### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = THAP1) # 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}}" "THAP1" "THAP domain containing, apoptosis associated protein 1" "8" "p11.1" "unknown" "NG_011837.1" "UD_132085372183" "" "https://www.LOVD.nl/THAP1" "" "1" "20856" "55145" "609520" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/THAP1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-10-20 18:53:03" "00000" "2024-02-26 20:06:56" ## 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}}" "00021067" "THAP1" "transcript variant 1" "002" "NM_018105.2" "" "NP_060575.1" "" "" "" "-237" "1930" "642" "42698474" "42691817" "" "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}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00108" "DYT" "dystonia (DYT)" "" "" "" "" "" "00054" "2013-01-24 21:46:00" "00006" "2018-04-03 21:21:00" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "02435" "DYT6" "dystonia, type 6, torsion (DYT6)" "AD" "602629" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-10-20 19:10:52" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "THAP1" "00108" "THAP1" "02435" ## Individuals ## Do not remove or alter this header ## ## Count = 69 "{{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}}" "00300288" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00300289" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00300290" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00324167" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "173221" "00386303" "" "" "" "4" "" "00006" "{PMID:Fuchs 2009:19182804}" "3-generation family, 4 affected (2F, 2M)" "F" "" "Germany;United States" "" "0" "" "" "" "FamSPat416" "00386304" "" "" "00386303" "1" "" "00006" "{PMID:Fuchs 2009:19182804}" "" "M" "" "United States;Germany" "" "0" "" "" "" "FamSPat413" "00386305" "" "" "00386303" "1" "" "00006" "{PMID:Fuchs 2009:19182804}" "" "M" "" "United States;Germany" "" "0" "" "" "" "FamSPat411" "00386306" "" "" "00386303" "1" "" "00006" "{PMID:Fuchs 2009:19182804}" "" "F" "" "United States;Germany" "" "0" "" "" "" "FamSPat302" "00386307" "" "" "" "2" "" "00006" "{PMID:Fuchs 2009:19182804}" "4-generation family, 2 affected (2M), 1 asymptomatic" "M" "" "United States" "" "0" "" "" "Amish-Mennonite" "FamWPat303" "00386308" "" "" "00386307" "1" "" "00006" "{PMID:Fuchs 2009:19182804}" "" "M" "" "United States" "" "0" "" "" "Amish-Mennonite" "FamWPat502" "00386309" "" "" "" "14" "" "00006" "{PMID:Fuchs 2009:19182804}" "family, 14 affected" "M" "" "United States" "" "0" "" "" "Amish-Mennonite" "FamMPat524" "00386310" "" "" "00386309" "1" "" "00006" "{PMID:Fuchs 2009:19182804}" "" "M" "" "United States" "" "0" "" "" "Amish-Mennonite" "FamMPat212" "00386311" "" "" "00386309" "1" "" "00006" "{PMID:Fuchs 2009:19182804}" "" "F" "" "United States" "" "0" "" "" "Amish-Mennonite" "FamMPat309" "00386312" "" "" "00386309" "1" "" "00006" "{PMID:Fuchs 2009:19182804}" "" "M" "" "United States" "" "0" "" "" "Amish-Mennonite" "FamMPat319" "00386313" "" "" "00386309" "1" "" "00006" "{PMID:Fuchs 2009:19182804}" "" "F" "" "United States" "" "0" "" "" "Amish-Mennonite" "FamMPat334" "00386314" "" "" "00386309" "1" "" "00006" "{PMID:Fuchs 2009:19182804}" "" "F" "" "United States" "" "0" "" "" "Amish-Mennonite" "FamMPat342" "00386315" "" "" "00386309" "1" "" "00006" "{PMID:Fuchs 2009:19182804}" "" "F" "" "United States" "" "0" "" "" "Amish-Mennonite" "FamMPat404" "00386316" "" "" "00386309" "1" "" "00006" "{PMID:Fuchs 2009:19182804}" "" "F" "" "United States" "" "0" "" "" "Amish-Mennonite" "FamMPat417" "00386317" "" "" "00386309" "1" "" "00006" "{PMID:Fuchs 2009:19182804}" "" "M" "" "United States" "" "0" "" "" "Amish-Mennonite" "FamMPat481" "00386318" "" "" "00386309" "1" "" "00006" "{PMID:Fuchs 2009:19182804}" "" "F" "" "United States" "" "0" "" "" "Amish-Mennonite" "FamMPat486" "00386319" "" "" "00386309" "1" "" "00006" "{PMID:Fuchs 2009:19182804}" "" "F" "" "United States" "" "0" "" "" "Amish-Mennonite" "FamMPat514" "00386320" "" "" "00386309" "1" "" "00006" "{PMID:Fuchs 2009:19182804}" "" "F" "" "United States" "" "0" "" "" "Amish-Mennonite" "FamMPat516" "00386321" "" "" "00386309" "1" "" "00006" "{PMID:Fuchs 2009:19182804}" "" "F" "" "United States" "" "0" "" "" "Amish-Mennonite" "FamMPat517" "00386322" "" "" "00386309" "1" "" "00006" "{PMID:Fuchs 2009:19182804}" "" "M" "" "United States" "" "0" "" "" "Amish-Mennonite" "FamMPat522" "00386323" "" "" "" "6" "" "00006" "{PMID:Fuchs 2009:19182804}" "family, 6 affected" "M" "" "United States" "" "0" "" "" "Amish-Mennonite" "FamCPat417" "00386324" "" "" "00386323" "1" "" "00006" "{PMID:Fuchs 2009:19182804}" "" "F" "" "United States" "" "0" "" "" "Amish-Mennonite" "FamCPat419" "00386325" "" "" "00386323" "1" "" "00006" "{PMID:Fuchs 2009:19182804}" "" "F" "" "United States" "" "0" "" "" "Amish-Mennonite" "FamCPat470" "00386326" "" "" "00386323" "1" "" "00006" "{PMID:Fuchs 2009:19182804}" "" "F" "" "United States" "" "0" "" "" "Amish-Mennonite" "FamCPat498" "00386327" "" "" "00386323" "1" "" "00006" "{PMID:Fuchs 2009:19182804}" "" "F" "" "United States" "" "0" "" "" "Amish-Mennonite" "FamCPat512" "00386328" "" "" "00386323" "1" "" "00006" "{PMID:Fuchs 2009:19182804}" "" "F" "" "United States" "" "0" "" "" "Amish-Mennonite" "FamCPat526" "00386329" "" "" "" "2" "" "00006" "{PMID:Fuchs 2009:19182804}" "family, 2 affected" "M" "" "United States" "" "0" "" "" "Amish-Mennonite" "FamRPat309" "00386330" "" "" "00386329" "1" "" "00006" "{PMID:Fuchs 2009:19182804}" "" "M" "" "United States" "" "0" "" "" "Amish-Mennonite" "FamRPat401" "00386332" "" "" "" "6" "" "00006" "{PMID:Bressman 2009:19345147}" "3-generation family, 6 affected" "" "" "" "" "0" "" "" "Europe" "Fam1" "00386333" "" "" "" "2" "" "00006" "{PMID:Bressman 2009:19345147}" "2-generation family, 2 affected" "" "" "" "" "0" "" "" "Europe" "Fam2" "00386334" "" "" "" "2" "" "00006" "{PMID:Bressman 2009:19345147}" "2-generation family, 2 affected" "" "" "" "" "0" "" "" "Europe" "Fam3" "00386335" "" "" "" "3" "" "00006" "{PMID:Bressman 2009:19345147}" "2-generation family, 3 affected" "" "" "" "" "0" "" "" "Europe" "Fam4" "00386336" "" "" "" "3" "" "00006" "{PMID:Bressman 2009:19345147}" "3-generation family, 3 affected, 1 asymptomatic carrier" "" "" "" "" "0" "" "" "Europe" "Fam5" "00386337" "" "" "" "4" "" "00006" "{PMID:Bressman 2009:19345147}" "4-generation family, 4 affected" "" "" "" "" "0" "" "" "Europe" "Fam6" "00386338" "" "" "" "2" "" "00006" "{PMID:Bressman 2009:19345147}" "3-generation family, 2 affected, 1 asymptomatic carrier" "" "" "" "" "0" "" "" "Europe" "Fam7" "00386339" "" "" "" "1" "" "00006" "{PMID:Bressman 2009:19345147}" "2-generation family, 1 affected" "" "" "" "" "0" "" "" "Europe" "Fam8" "00386340" "" "" "" "2" "" "00006" "{PMID:Bressman 2009:19345147}" "2-generation family, 2 affected" "" "" "" "" "0" "" "" "Europe" "Fam9" "00386341" "" "" "" "1" "" "00006" "{PMID:Djarmati 2009:19345148}" "4-generation family, 1 affected (M), 2 unaffected carriers (2F)" "M" "" "Germany" "" "0" "" "" "" "Fam1PatL2257" "00386342" "" "" "" "1" "" "00006" "{PMID:Djarmati 2009:19345148}" "" "M" "" "Germany" "" "0" "" "" "" "Pat1(7021)" "00386343" "" "" "" "20" "" "00006" "{PMID:Djarmati 2009:19345148}" "" "" "" "Germany" "" "0" "" "" "" "patients" "00386344" "" "" "" "7" "" "00006" "{PMID:Djarmati 2009:19345148}" "" "" "" "Germany" "" "0" "" "" "" "controls" "00386345" "" "" "" "3" "" "00006" "{PMID:Xiao 2010:20083799}" "3-generation family, 3 affected (2F, M), 1 unaffected carriers (F)" "F;M" "" "United States" "" "0" "" "" "" "FamA" "00386346" "" "" "" "3" "" "00006" "{PMID:Xiao 2010:20083799}" "4-generation family, 3 affected (F, 2M)" "F;M" "" "United States" "" "0" "" "" "" "FamB" "00386347" "" "" "" "3" "" "00006" "{PMID:Xiao 2010:20083799}" "4-generation family, 3 affected (F, 2M)" "F;M" "" "United States" "" "0" "" "" "" "FamC" "00386348" "" "" "" "1" "" "00006" "{PMID:Xiao 2010:20083799}" "patient" "F" "" "United States" "" "0" "" "" "" "PatD-1378" "00386349" "" "" "" "1" "" "00006" "{PMID:Xiao 2010:20083799}" "patient" "F" "" "United States" "" "0" "" "" "" "PatE-6144" "00386350" "" "" "" "1" "" "00006" "{PMID:Xiao 2010:20083799}" "patient" "F" "" "United States" "" "0" "" "" "" "PatF-6224" "00386351" "" "" "" "1" "" "00006" "{PMID:Xiao 2010:20083799}" "" "F" "" "United States" "" "0" "" "" "white" "patient" "00386352" "" "" "" "1" "" "00006" "{PMID:Xiao 2010:20083799}" "" "F" "" "United States" "" "0" "" "" "white" "patient" "00386353" "" "" "" "1" "" "00006" "{PMID:Xiao 2010:20083799}" "" "" "" "United States" "" "0" "" "" "white" "patient" "00386354" "" "" "" "7" "" "00006" "{PMID:Xiao 2010:20083799}" "" "" "" "United States" "" "0" "" "" "" "patients" "00386355" "" "" "" "1" "" "00006" "{PMID:Xiao 2010:20083799}" "" "" "" "United States" "" "0" "" "" "" "controls" "00386356" "" "" "" "1" "" "00006" "{PMID:Lohmann 2012:218471439}" "family" "F" "" "Germany" "" "0" "" "" "" "PatL3641" "00386357" "" "" "" "1" "" "00006" "{PMID:Lohmann 2012:218471439}" "no family history" "F" "" "Germany" "" "0" "" "" "" "PatL3841" "00386358" "" "" "" "1" "" "00006" "{PMID:Lohmann 2012:218471439}" "no family history" "M" "" "Germany" "" "0" "" "" "" "PatL3969" "00386359" "" "" "" "1" "" "00006" "{PMID:Lohmann 2012:218471439}" "no family history" "F" "" "Germany" "" "0" "" "" "" "PatL4071" "00386360" "" "" "" "1" "" "00006" "{PMID:Lohmann 2012:218471439}" "family" "M" "" "Germany" "" "0" "" "" "" "PatL4155" "00386361" "" "" "" "1" "" "00006" "{PMID:Lohmann 2012:218471439}" "family" "M" "" "Germany" "" "0" "" "" "" "PatL4318" "00386362" "" "" "" "1" "" "00006" "{PMID:Lohmann 2012:218471439}" "no family history" "M" "" "Germany" "" "0" "" "" "" "PatL4325" "00386363" "" "" "" "1" "" "00006" "{PMID:Lohmann 2012:218471439}" "no family history" "M" "" "Germany" "" "0" "" "" "" "PatL4455" "00386364" "" "" "" "1" "" "00006" "{PMID:Lohmann 2012:218471439}" "no family history" "M" "" "Germany" "" "0" "" "" "" "PatL4457" "00386365" "" "" "" "17" "" "00006" "{PMID:Lohmann 2012:218471439}" "" "" "" "Germany" "" "0" "" "" "" "patients" "00386366" "" "" "" "6" "" "00006" "{PMID:Lohmann 2012:218471439}" "" "" "" "Serbia" "" "0" "" "" "" "patients" "00386367" "" "" "" "19" "" "00006" "{PMID:Lohmann 2012:218471439}" "" "" "" "" "" "0" "" "" "" "controls" "00427818" "" "" "" "1" "" "00006" "{PMID:Veeramah 2013:23647072}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "" "PatJ" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 69 "{{individualid}}" "{{diseaseid}}" "00300288" "00198" "00300289" "00198" "00300290" "00198" "00324167" "00108" "00386303" "00108" "00386304" "00108" "00386305" "00108" "00386306" "00108" "00386307" "00108" "00386308" "00108" "00386309" "00108" "00386310" "00108" "00386311" "00108" "00386312" "00108" "00386313" "00108" "00386314" "00108" "00386315" "00108" "00386316" "00108" "00386317" "00108" "00386318" "00108" "00386319" "00108" "00386320" "00108" "00386321" "00108" "00386322" "00108" "00386323" "00108" "00386324" "00108" "00386325" "00108" "00386326" "00108" "00386327" "00108" "00386328" "00108" "00386329" "00108" "00386330" "00108" "00386332" "00108" "00386333" "00108" "00386334" "00108" "00386335" "00108" "00386336" "00108" "00386337" "00108" "00386338" "00108" "00386339" "00108" "00386340" "00108" "00386341" "00108" "00386342" "00108" "00386343" "00108" "00386344" "00000" "00386345" "00108" "00386346" "00108" "00386347" "00108" "00386348" "00108" "00386349" "00108" "00386350" "00108" "00386351" "00108" "00386352" "00108" "00386353" "00108" "00386354" "00108" "00386355" "00000" "00386356" "00108" "00386357" "00108" "00386358" "00108" "00386359" "00108" "00386360" "00108" "00386361" "00108" "00386362" "00108" "00386363" "00108" "00386364" "00108" "00386365" "00108" "00386366" "00108" "00386367" "00000" "00427818" "00344" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00108, 00198, 00344, 02435 ## Count = 64 "{{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}}" "0000227596" "00198" "00300288" "01807" "Unknown" "" "Dystonia (HP:0001332)" "" "" "" "" "" "" "" "" "" "" "" "0000227597" "00198" "00300289" "01807" "Unknown" "" "Healthy (HP:0032322)" "" "" "" "" "" "" "" "" "" "" "" "0000227598" "00198" "00300290" "01807" "Unknown" "" "Dystonia (HP:0001332)" "" "" "" "" "" "" "" "" "" "" "" "0000242748" "00108" "00324167" "01164" "Unknown" "01y02m" "(+) Dystonia,(+) Abnormality of extrapyramidal motor function , clinical suspicion of Segawa-syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000280106" "00108" "00386303" "00006" "Familial, autosomal dominant" "42y" "dystonia sites involve lower face, neck, larynx, tongue, jaw, right arm, left arm, right leg, left leg, trunk" "13y" "" "primary torsion dystonia cranial" "" "" "" "" "" "DYT6" "generalized dystonia" "" "0000280107" "00108" "00386304" "00006" "Familial, autosomal dominant" "46y" "dystonia sites involve upper face, lower face, neck, tongue, jaw, right arm, left arm, left leg, trunk" "13y" "" "primary torsion dystonia leg" "" "" "" "" "" "DYT6" "generalized dystonia" "" "0000280108" "00108" "00386305" "00006" "Familial, autosomal dominant" "47y" "dystonia sites involve lower face, jaw" "9y" "" "primary torsion dystonia cranial" "" "" "" "" "" "DYT6" "segmental dystonia" "" "0000280109" "00108" "00386306" "00006" "Familial, autosomal dominant" "79y" "dystonia sites involve upper face, lower face, neck, tongue, jaw, right arm, left arm, right leg, left leg, trunk" "13y" "" "primary torsion dystonia arm" "" "" "" "" "" "DYT6" "generalized dystonia" "" "0000280110" "00108" "00386307" "00006" "Familial, autosomal dominant" "66y" "dystonia sites involve lower face, larynx, pharynx, tongue, jaw, right arm, left arm" "21y" "" "primary torsion dystonia cranial" "" "" "" "" "" "DYT6" "segmental dystonia" "" "0000280111" "00108" "00386308" "00006" "Familial, autosomal dominant" "13y" "dystonia sites involve right arm, left arm" "9y" "" "primary torsion dystonia arm" "" "" "" "" "" "DYT6" "segmental dystonia" "" "0000280112" "00108" "00386309" "00006" "Familial, autosomal dominant" "19y" "dystonia sites involve larynx" "16y" "" "primary torsion dystonia cranial" "" "" "" "" "" "DYT6" "focal dystonia" "" "0000280113" "00108" "00386310" "00006" "Familial, autosomal dominant" "78y" "dystonia sites involve neck, larynx, tongue, right arm, left arm, right leg, left leg, trunk" "14y" "" "primary torsion dystonia cranial" "" "" "" "" "" "DYT6" "generalized dystonia" "" "0000280114" "00108" "00386311" "00006" "Familial, autosomal dominant" "54y" "dystonia sites involve upper face, lower face, larynx, jaw, right arm, right leg" "34y" "" "primary torsion dystonia arm" "" "" "" "" "" "DYT6" "multifocal dystonia" "" "0000280115" "00108" "00386312" "00006" "Familial, autosomal dominant" "64y" "dystonia sites involve upper face, neck, larynx, right arm, left arm, right leg, left leg, trunk" "7y" "" "primary torsion dystonia leg" "" "" "" "" "" "DYT6" "generalized dystonia" "" "0000280116" "00108" "00386313" "00006" "Familial, autosomal dominant" "57y" "dystonia sites involve upper face, lower face, neck, left arm, right leg, left leg, trunk" "13y" "" "primary torsion dystonia neck" "" "" "" "" "" "DYT6" "generalized dystonia" "" "0000280117" "00108" "00386314" "00006" "Familial, autosomal dominant" "40y" "dystonia sites involve upper face, lower face, larynx, left arm, left leg" "24y" "" "primary torsion dystonia cranial" "" "" "" "" "" "DYT6" "multifocal dystonia" "" "0000280118" "00108" "00386315" "00006" "Familial, autosomal dominant" "34y" "dystonia sites involve neck, larynx, right arm, left arm, right leg, left leg" "6y" "" "primary torsion dystonia arm" "" "" "" "" "" "DYT6" "generalized dystonia" "" "0000280119" "00108" "00386316" "00006" "Familial, autosomal dominant" "15y" "dystonia sites involve right arm, left leg" "5y" "" "primary torsion dystonia arm" "" "" "" "" "" "DYT6" "multifocal dystonia" "" "0000280120" "00108" "00386317" "00006" "Familial, autosomal dominant" "49y" "dystonia sites involve right arm" "31y" "" "primary torsion dystonia arm" "" "" "" "" "" "DYT6" "focal dystonia" "" "0000280121" "00108" "00386318" "00006" "Familial, autosomal dominant" "45y" "dystonia sites involve right arm, left arm" "28y" "" "primary torsion dystonia arm" "" "" "" "" "" "DYT6" "segmental dystonia" "" "0000280122" "00108" "00386319" "00006" "Familial, autosomal dominant" "17y" "dystonia sites involve neck, right arm" "15y" "" "primary torsion dystonia neck" "" "" "" "" "" "DYT6" "segmental dystonia" "" "0000280123" "00108" "00386320" "00006" "Familial, autosomal dominant" "18y" "dystonia sites involve neck, pharynx, tongue, right arm, left arm, right leg" "8y" "" "primary torsion dystonia arm" "" "" "" "" "" "DYT6" "multifocal dystonia" "" "0000280124" "00108" "00386321" "00006" "Familial, autosomal dominant" "12y" "dystonia sites involve right arm, left arm, right leg, left leg" "10y" "" "primary torsion dystonia arm" "" "" "" "" "" "DYT6" "generalized dystonia" "" "0000280125" "00108" "00386322" "00006" "Familial, autosomal dominant" "23y" "dystonia sites involve upper face, lower face, neck, larynx, pharynx, tongue, jaw, right arm" "10y" "" "primary torsion dystonia cranial" "" "" "" "" "" "DYT6" "segmental dystonia" "" "0000280126" "00108" "00386323" "00006" "Familial, autosomal dominant" "55y" "dystonia sites involve neck, larynx, right arm, left arm" "38y" "" "primary torsion dystonia arm" "" "" "" "" "" "DYT6" "segmental dystonia" "" "0000280127" "00108" "00386324" "00006" "Familial, autosomal dominant" "44y" "dystonia sites involve lower face, neck, tongue, jaw, right arm, right leg, trunk" "9y" "" "primary torsion dystonia neck" "" "" "" "" "" "DYT6" "generalized dystonia" "" "0000280128" "00108" "00386325" "00006" "Familial, autosomal dominant" "43y" "dystonia sites involve upper face, lower face, tongue" "20y" "" "primary torsion dystonia cranial" "" "" "" "" "" "DYT6" "segmental dystonia" "" "0000280129" "00108" "00386326" "00006" "Familial, autosomal dominant" "47y" "dystonia sites involve lower face, neck, tongue, jaw, right arm" "21y" "" "primary torsion dystonia cranial" "" "" "" "" "" "DYT6" "segmental dystonia" "" "0000280130" "00108" "00386327" "00006" "Familial, autosomal dominant" "17y" "dystonia sites involve neck, right arm" "6y" "" "primary torsion dystonia arm" "" "" "" "" "" "DYT6" "segmental dystonia" "" "0000280131" "00108" "00386328" "00006" "Familial, autosomal dominant" "19y" "dystonia sites involve upper face, neck, larynx" "16y" "" "primary torsion dystonia neck" "" "" "" "" "" "DYT6" "segmental dystonia" "" "0000280132" "00108" "00386329" "00006" "Familial, autosomal dominant" "35y" "dystonia sites involve upper face, lower face, neck, right arm, left arm, right leg, left leg" "18y" "" "primary torsion dystonia cranial" "" "" "" "" "" "DYT6" "generalized dystonia" "" "0000280133" "00108" "00386330" "00006" "Familial, autosomal dominant" "10y" "dystonia sites involve lower face, neck, tongue, right arm, left arm, right leg, trunk" "6y" "" "primary torsion dystonia neck" "" "" "" "" "" "DYT6" "generalized dystonia" "" "0000280135" "00108" "00386332" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DYT6" "early onset primary dystonia" "" "0000280136" "00108" "00386333" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DYT6" "early onset primary dystonia" "" "0000280137" "00108" "00386334" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DYT6" "early onset primary dystonia" "" "0000280138" "00108" "00386335" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DYT6" "early onset primary dystonia" "" "0000280139" "00108" "00386336" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DYT6" "early onset primary dystonia" "" "0000280140" "00108" "00386337" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DYT6" "early onset primary dystonia" "" "0000280141" "00108" "00386338" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DYT6" "early onset primary dystonia" "" "0000280142" "00108" "00386339" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DYT6" "early onset primary dystonia" "" "0000280143" "00108" "00386340" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DYT6" "early onset primary dystonia" "" "0000280144" "00108" "00386341" "00006" "Familial, autosomal dominant" "68y" "see paper; ..., childhood laryngeal dystonia developed generalised dystonia, orobulbar involvement; two unaffected carriers with subtle motor signs" "10y" "" "" "" "" "" "" "" "DYT6" "dystonia" "" "0000280145" "00108" "00386342" "00006" "Familial, autosomal dominant" "35y" "see paper; ..., childhood laryngeal dystonia developed generalised dystonia, orobulbar involvement" "9y" "" "" "" "" "" "" "" "DYT6" "dystonia" "" "0000280146" "00108" "00386343" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dystonia" "" "0000280147" "00108" "00386345" "00006" "Familial, autosomal dominant" "" "see paper; ...; dystonia cervical, masticatory, arm" "" "" "" "" "" "" "" "" "DYT6" "dystonia" "" "0000280148" "00108" "00386346" "00006" "Familial, autosomal dominant" "" "see paper; ..., slowly progressive left leg and truncal dystonia" "" "" "" "" "" "" "" "" "DYT6" "dystonia" "" "0000280149" "00108" "00386347" "00006" "Familial, autosomal dominant" "" "see paper; ..., cervical dystonia" "" "" "" "" "" "" "" "" "DYT6" "dystonia" "" "0000280150" "00108" "00386348" "00006" "Familial, autosomal dominant" "" "see paper; ..., cervical dystonia" "" "" "" "" "" "" "" "" "DYT6" "dystonia" "" "0000280151" "00108" "00386349" "00006" "Familial, autosomal dominant" "" "see paper; ..., laryngeal dystonia (adductor subtype)" "" "" "" "" "" "" "" "" "DYT6" "dystonia" "" "0000280152" "00108" "00386350" "00006" "Familial, autosomal dominant" "" "see paper; ..., adductor laryngeal dystonia" "" "" "" "" "" "" "" "" "DYT6" "dystonia" "" "0000280153" "00108" "00386351" "00006" "Familial, autosomal dominant" "" "see paper; ..., blepharospasm" "" "" "" "" "" "" "" "" "DYT6" "dystonia" "" "0000280154" "00108" "00386352" "00006" "Familial, autosomal dominant" "" "see paper; ..., laryngeal dystonia" "" "" "" "" "" "" "" "" "DYT6" "dystonia" "" "0000280155" "00108" "00386353" "00006" "Familial, autosomal dominant" "" "see paper; ..., segmental craniocervical dystonia, laryngeal dystonia (adductor subtype), blepharospasm, lower facial dystonia" "" "" "" "" "" "" "" "" "DYT6" "dystonia" "" "0000280156" "00108" "00386354" "00006" "Familial, autosomal dominant" "" "see paper; ..., segmental craniocervical dystonia" "" "" "" "" "" "" "" "" "DYT6" "dystonia" "" "0000280157" "00108" "00386356" "00006" "Familial, autosomal dominant" "59y" "see paper; ..., focal dystonia, speech not affected" "49y" "" "neck" "" "" "" "" "" "DYT6" "dystonia" "" "0000280158" "00108" "00386357" "00006" "Unknown" "32y" "see paper; ..., generalized dystonia, speech affected mildly" "8y" "" "neck" "" "" "" "" "" "DYT6" "dystonia" "" "0000280159" "00108" "00386358" "00006" "Unknown" "30y" "see paper; ..., generalized dystonia, speech affected" "6y" "" "arm" "" "" "" "" "" "DYT6" "dystonia" "" "0000280160" "00108" "00386359" "00006" "Unknown" "46y" "see paper; ..., generalized dystonia, speech affected" "11y" "" "neck" "" "" "" "" "" "DYT6" "dystonia" "" "0000280161" "00108" "00386360" "00006" "Familial, autosomal dominant" "33y" "see paper; ..., segmental dystonia, speech not affected" "9y" "" "arm" "" "" "" "" "" "DYT6" "dystonia" "" "0000280162" "00108" "00386361" "00006" "Familial, autosomal dominant" "56y" "see paper; ..., segmental dystonia, speech affected" "10y" "" "arm" "" "" "" "" "" "DYT6" "dystonia" "" "0000280163" "00108" "00386362" "00006" "Unknown" "35y" "see paper; ..., focal dystonia (musicians\' dystonia), speech not affected" "33y" "" "arm" "" "" "" "" "" "" "dystonia" "" "0000280164" "00108" "00386363" "00006" "Unknown" "33y" "see paper; ..., generalized dystonia , speech affected, aphonia" "19y" "" "arm" "" "" "" "" "" "" "dystonia" "" "0000280165" "00108" "00386364" "00006" "Unknown" "54y" "see paper; ..., focal dystonia, speech not affected" "41y" "" "neck" "" "" "" "" "" "" "dystonia" "" "0000318792" "00344" "00427818" "00006" "Isolated (sporadic)" "17y" "gestational diabetes (diet-treated); born 37w; severe failure to thrive; complex partial seizures, giggling with decreased awareness, eye deviation, complex partial seizures, now partly controlled (brief/infrequent, every few weeks, on valproate & zonisamide); EEG diffuse slowing, multifocal spikes bifrontal/L occipital, clinical seiures originating from L frontal region; acquired microcephaly (<2nd percenile); motor regression, progressing to spastic quadriparesis; choreoathetosis, dystonic posturing; severe intellectual disability, nonverbal; short stature" "08y06m" "" "" "" "" "" "" "" "" "epileptic encephalopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 69 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000301407" "00300288" "1" "01807" "01807" "2020-04-28 10:14:01" "" "" "SEQ" "DNA" "" "" "0000301408" "00300289" "1" "01807" "01807" "2020-04-28 10:15:01" "" "" "SEQ" "DNA" "" "" "0000301409" "00300290" "1" "01807" "01807" "2020-04-28 10:16:01" "" "" "SEQ" "DNA" "" "" "0000325357" "00324167" "1" "01164" "01164" "2020-12-03 14:22:29" "" "" "SEQ-NG-I" "DNA" "" "" "0000387532" "00386303" "1" "00006" "00006" "2021-10-21 09:54:42" "" "" "SEQ" "DNA" "" "" "0000387533" "00386304" "1" "00006" "00006" "2021-10-21 09:54:42" "" "" "SEQ" "DNA" "" "" "0000387534" "00386305" "1" "00006" "00006" "2021-10-21 09:54:42" "" "" "SEQ" "DNA" "" "" "0000387535" "00386306" "1" "00006" "00006" "2021-10-21 09:54:42" "" "" "SEQ" "DNA" "" "" "0000387536" "00386307" "1" "00006" "00006" "2021-10-21 09:54:42" "" "" "SEQ" "DNA" "" "" "0000387537" "00386308" "1" "00006" "00006" "2021-10-21 09:54:42" "" "" "SEQ" "DNA" "" "" "0000387538" "00386309" "1" "00006" "00006" "2021-10-21 09:54:42" "" "" "SEQ" "DNA" "" "" "0000387539" "00386310" "1" "00006" "00006" "2021-10-21 09:54:42" "" "" "SEQ" "DNA" "" "" "0000387540" "00386311" "1" "00006" "00006" "2021-10-21 09:54:42" "" "" "SEQ" "DNA" "" "" "0000387541" "00386312" "1" "00006" "00006" "2021-10-21 09:54:42" "" "" "SEQ" "DNA" "" "" "0000387542" "00386313" "1" "00006" "00006" "2021-10-21 09:54:42" "" "" "SEQ" "DNA" "" "" "0000387543" "00386314" "1" "00006" "00006" "2021-10-21 09:54:42" "" "" "SEQ" "DNA" "" "" "0000387544" "00386315" "1" "00006" "00006" "2021-10-21 09:54:42" "" "" "SEQ" "DNA" "" "" "0000387545" "00386316" "1" "00006" "00006" "2021-10-21 09:54:42" "" "" "SEQ" "DNA" "" "" "0000387546" "00386317" "1" "00006" "00006" "2021-10-21 09:54:42" "" "" "SEQ" "DNA" "" "" "0000387547" "00386318" "1" "00006" "00006" "2021-10-21 09:54:42" "" "" "SEQ" "DNA" "" "" "0000387548" "00386319" "1" "00006" "00006" "2021-10-21 09:54:42" "" "" "SEQ" "DNA" "" "" "0000387549" "00386320" "1" "00006" "00006" "2021-10-21 09:54:42" "" "" "SEQ" "DNA" "" "" "0000387550" "00386321" "1" "00006" "00006" "2021-10-21 09:54:42" "" "" "SEQ" "DNA" "" "" "0000387551" "00386322" "1" "00006" "00006" "2021-10-21 09:54:42" "" "" "SEQ" "DNA" "" "" "0000387552" "00386323" "1" "00006" "00006" "2021-10-21 09:54:42" "" "" "SEQ" "DNA" "" "" "0000387553" "00386324" "1" "00006" "00006" "2021-10-21 09:54:42" "" "" "SEQ" "DNA" "" "" "0000387554" "00386325" "1" "00006" "00006" "2021-10-21 09:54:42" "" "" "SEQ" "DNA" "" "" "0000387555" "00386326" "1" "00006" "00006" "2021-10-21 09:54:42" "" "" "SEQ" "DNA" "" "" "0000387556" "00386327" "1" "00006" "00006" "2021-10-21 09:54:42" "" "" "SEQ" "DNA" "" "" "0000387557" "00386328" "1" "00006" "00006" "2021-10-21 09:54:42" "" "" "SEQ" "DNA" "" "" "0000387558" "00386329" "1" "00006" "00006" "2021-10-21 09:54:42" "" "" "SEQ" "DNA" "" "" "0000387559" "00386330" "1" "00006" "00006" "2021-10-21 09:54:42" "" "" "SEQ" "DNA" "" "" "0000387561" "00386332" "1" "00006" "00006" "2021-10-21 10:27:57" "" "" "SEQ" "DNA" "" "" "0000387562" "00386333" "1" "00006" "00006" "2021-10-21 10:27:57" "" "" "SEQ" "DNA" "" "" "0000387563" "00386334" "1" "00006" "00006" "2021-10-21 10:27:57" "" "" "SEQ" "DNA" "" "" "0000387564" "00386335" "1" "00006" "00006" "2021-10-21 10:27:57" "" "" "SEQ" "DNA" "" "" "0000387565" "00386336" "1" "00006" "00006" "2021-10-21 10:27:57" "" "" "SEQ" "DNA" "" "" "0000387566" "00386337" "1" "00006" "00006" "2021-10-21 10:27:57" "" "" "SEQ" "DNA" "" "" "0000387567" "00386338" "1" "00006" "00006" "2021-10-21 10:27:57" "" "" "SEQ" "DNA" "" "" "0000387568" "00386339" "1" "00006" "00006" "2021-10-21 10:27:57" "" "" "SEQ" "DNA" "" "" "0000387569" "00386340" "1" "00006" "00006" "2021-10-21 10:27:57" "" "" "SEQ" "DNA" "" "" "0000387570" "00386341" "1" "00006" "00006" "2021-10-21 10:48:27" "" "" "SEQ" "DNA" "" "" "0000387571" "00386342" "1" "00006" "00006" "2021-10-21 10:48:27" "" "" "SEQ" "DNA" "" "" "0000387572" "00386343" "1" "00006" "00006" "2021-10-21 10:48:27" "" "" "SEQ" "DNA" "" "" "0000387573" "00386344" "1" "00006" "00006" "2021-10-21 10:48:27" "" "" "SEQ" "DNA" "" "" "0000387574" "00386345" "1" "00006" "00006" "2021-10-21 11:17:38" "" "" "SEQ" "DNA" "" "" "0000387575" "00386346" "1" "00006" "00006" "2021-10-21 11:17:38" "" "" "SEQ" "DNA" "" "" "0000387576" "00386347" "1" "00006" "00006" "2021-10-21 11:17:38" "" "" "SEQ" "DNA" "" "" "0000387577" "00386348" "1" "00006" "00006" "2021-10-21 11:17:38" "" "" "SEQ" "DNA" "" "" "0000387578" "00386349" "1" "00006" "00006" "2021-10-21 11:17:38" "" "" "SEQ" "DNA" "" "" "0000387579" "00386350" "1" "00006" "00006" "2021-10-21 11:17:38" "" "" "SEQ" "DNA" "" "" "0000387580" "00386351" "1" "00006" "00006" "2021-10-21 11:17:38" "" "" "SEQ" "DNA" "" "" "0000387581" "00386352" "1" "00006" "00006" "2021-10-21 11:17:38" "" "" "SEQ" "DNA" "" "" "0000387582" "00386353" "1" "00006" "00006" "2021-10-21 11:17:38" "" "" "SEQ" "DNA" "" "" "0000387583" "00386354" "1" "00006" "00006" "2021-10-21 11:17:38" "" "" "SEQ" "DNA" "" "" "0000387584" "00386355" "1" "00006" "00006" "2021-10-21 11:17:38" "" "" "SEQ" "DNA" "" "" "0000387585" "00386356" "1" "00006" "00006" "2021-10-21 11:43:01" "" "" "SEQ" "DNA" "" "" "0000387586" "00386357" "1" "00006" "00006" "2021-10-21 11:43:01" "" "" "SEQ" "DNA" "" "" "0000387587" "00386358" "1" "00006" "00006" "2021-10-21 11:43:01" "" "" "SEQ" "DNA" "" "" "0000387588" "00386359" "1" "00006" "00006" "2021-10-21 11:43:01" "" "" "SEQ" "DNA" "" "" "0000387589" "00386360" "1" "00006" "00006" "2021-10-21 11:43:01" "" "" "SEQ" "DNA" "" "" "0000387590" "00386361" "1" "00006" "00006" "2021-10-21 11:43:01" "" "" "SEQ" "DNA" "" "" "0000387591" "00386362" "1" "00006" "00006" "2021-10-21 11:43:01" "" "" "SEQ" "DNA" "" "" "0000387592" "00386363" "1" "00006" "00006" "2021-10-21 11:43:01" "" "" "SEQ" "DNA" "" "" "0000387593" "00386364" "1" "00006" "00006" "2021-10-21 11:43:01" "" "" "SEQ" "DNA" "" "" "0000387594" "00386365" "1" "00006" "00006" "2021-10-21 12:07:52" "" "" "SEQ" "DNA" "" "" "0000387595" "00386366" "1" "00006" "00006" "2021-10-21 12:08:37" "" "" "SEQ" "DNA" "" "" "0000387596" "00386367" "1" "00006" "00006" "2021-10-21 12:09:55" "" "" "SEQ" "DNA" "" "" "0000429141" "00427818" "1" "00006" "00006" "2022-12-13 13:34:17" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 64 "{{screeningid}}" "{{geneid}}" "0000325357" "THAP1" "0000387532" "THAP1" "0000387533" "THAP1" "0000387534" "THAP1" "0000387535" "THAP1" "0000387536" "THAP1" "0000387537" "THAP1" "0000387538" "THAP1" "0000387539" "THAP1" "0000387540" "THAP1" "0000387541" "THAP1" "0000387542" "THAP1" "0000387543" "THAP1" "0000387544" "THAP1" "0000387545" "THAP1" "0000387546" "THAP1" "0000387547" "THAP1" "0000387548" "THAP1" "0000387549" "THAP1" "0000387550" "THAP1" "0000387551" "THAP1" "0000387552" "THAP1" "0000387553" "THAP1" "0000387554" "THAP1" "0000387555" "THAP1" "0000387556" "THAP1" "0000387557" "THAP1" "0000387558" "THAP1" "0000387561" "THAP1" "0000387562" "THAP1" "0000387563" "THAP1" "0000387564" "THAP1" "0000387565" "THAP1" "0000387566" "THAP1" "0000387567" "THAP1" "0000387568" "THAP1" "0000387569" "THAP1" "0000387570" "THAP1" "0000387571" "THAP1" "0000387572" "THAP1" "0000387573" "THAP1" "0000387574" "THAP1" "0000387575" "THAP1" "0000387576" "THAP1" "0000387577" "THAP1" "0000387578" "THAP1" "0000387579" "THAP1" "0000387580" "THAP1" "0000387581" "THAP1" "0000387582" "THAP1" "0000387583" "THAP1" "0000387584" "THAP1" "0000387585" "THAP1" "0000387586" "THAP1" "0000387587" "THAP1" "0000387588" "THAP1" "0000387589" "THAP1" "0000387590" "THAP1" "0000387591" "THAP1" "0000387592" "THAP1" "0000387593" "THAP1" "0000387594" "THAP1" "0000387595" "THAP1" "0000387596" "THAP1" ## 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 = 111 "{{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}}" "0000311846" "0" "50" "8" "42693223" "42693223" "subst" "0" "02325" "THAP1_000003" "g.42693223C>T" "" "" "" "THAP1(NM_018105.3):c.524G>A (p.R175Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42838080C>T" "" "VUS" "" "0000311847" "0" "30" "8" "42693110" "42693110" "subst" "0" "02325" "THAP1_000001" "g.42693110C>T" "" "" "" "THAP1(NM_018105.3):c.637G>A (p.A213T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42837967C>T" "" "likely benign" "" "0000311848" "0" "30" "8" "42698158" "42698158" "subst" "0.00113445" "02325" "THAP1_000004" "g.42698158G>T" "" "" "" "THAP1(NM_018105.2):c.71+9C>A, THAP1(NM_018105.3):c.71+9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42843015G>T" "" "likely benign" "" "0000316594" "0" "30" "8" "42693146" "42693146" "subst" "0.000113966" "01943" "THAP1_000002" "g.42693146G>A" "" "" "" "THAP1(NM_018105.2):c.601C>T (p.L201=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42838003G>A" "" "likely benign" "" "0000338073" "0" "30" "8" "42698158" "42698158" "subst" "0.00113445" "02327" "THAP1_000004" "g.42698158G>T" "" "" "" "THAP1(NM_018105.2):c.71+9C>A, THAP1(NM_018105.3):c.71+9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42843015G>T" "" "likely benign" "" "0000338074" "0" "50" "8" "42698271" "42698271" "subst" "0" "02327" "THAP1_000015" "g.42698271C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42843128C>T" "" "VUS" "" "0000340833" "0" "30" "8" "42693360" "42693360" "subst" "0" "02327" "THAP1_000007" "g.42693360G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42838217G>C" "" "likely benign" "" "0000341204" "0" "50" "8" "42693251" "42693251" "subst" "2.03034E-5" "02327" "THAP1_000005" "g.42693251C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42838108C>T" "" "VUS" "" "0000342572" "0" "50" "8" "42694510" "42694510" "subst" "0" "02327" "THAP1_000010" "g.42694510C>G" "" "" "" "THAP1(NM_018105.3):c.86G>C (p.R29P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42839367C>G" "" "VUS" "" "0000344362" "0" "50" "8" "42694498" "42694498" "subst" "0" "02327" "THAP1_000009" "g.42694498C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42839355C>T" "" "VUS" "" "0000344579" "0" "70" "8" "42693283" "42693283" "subst" "0" "02327" "THAP1_000006" "g.42693283T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42838140T>G" "" "likely pathogenic" "" "0000344746" "0" "90" "8" "42698231" "42698231" "subst" "0" "02327" "THAP1_000014" "g.42698231G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42843088G>A" "" "pathogenic" "" "0000344819" "0" "50" "8" "42698230" "42698230" "subst" "0" "02327" "THAP1_000013" "g.42698230T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42843087T>G" "" "VUS" "" "0000348125" "0" "50" "8" "42693430" "42693430" "subst" "8.12394E-6" "02327" "THAP1_000008" "g.42693430G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42838287G>A" "" "VUS" "" "0000349143" "0" "90" "8" "42698221" "42698221" "subst" "0" "02327" "THAP1_000012" "g.42698221G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42843078G>A" "" "pathogenic" "" "0000351189" "0" "90" "8" "42694525" "42694525" "subst" "0" "02327" "THAP1_000011" "g.42694525C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42839382C>A" "" "pathogenic" "" "0000534846" "0" "30" "8" "42693282" "42693282" "subst" "8.1215E-6" "01943" "THAP1_000016" "g.42693282T>C" "" "" "" "THAP1(NM_018105.2):c.465A>G (p.Q155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42838139T>C" "" "likely benign" "" "0000534847" "0" "50" "8" "42693326" "42693326" "subst" "0" "02325" "THAP1_000017" "g.42693326C>A" "" "" "" "THAP1(NM_018105.3):c.421G>T (p.D141Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42838183C>A" "" "VUS" "" "0000534849" "0" "90" "8" "42694510" "42694510" "subst" "4.06372E-6" "02325" "THAP1_000019" "g.42694510C>T" "" "" "" "THAP1(NM_018105.3):c.86G>A (p.R29Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42839367C>T" "" "pathogenic" "" "0000664340" "0" "90" "8" "42693105" "42694524" "del" "0" "01807" "THAP1_000020" "g.(?_42693105)_(42694524_?)del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000664341" "0" "90" "8" "42693105" "42694524" "del" "0" "01807" "THAP1_000020" "g.(?_42693105)_(42694524_?)del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000664342" "0" "90" "8" "42693105" "42694524" "del" "0" "01807" "THAP1_000020" "g.(?_42693105)_(42694524_?)del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000678388" "0" "90" "8" "42693248" "42693248" "subst" "0" "02325" "THAP1_000021" "g.42693248G>A" "" "" "" "THAP1(NM_018105.3):c.499C>T (p.Q167*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000690272" "0" "30" "8" "42693321" "42693321" "subst" "4.06075E-5" "01943" "THAP1_000022" "g.42693321T>G" "" "" "" "THAP1(NM_018105.2):c.426A>C (p.T142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000708347" "0" "50" "8" "42693320" "42693320" "subst" "5.2791E-5" "01164" "THAP1_000023" "g.42693320T>C" "" "" "" "" "ACMG: PM2, BP4: class 3" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000721996" "0" "90" "8" "42694345" "42694346" "del" "0" "02325" "THAP1_000024" "g.42694345_42694346del" "" "" "" "THAP1(NM_018105.3):c.250_251delAC (p.T84*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000721997" "0" "90" "8" "42694510" "42694510" "subst" "0" "02325" "THAP1_000010" "g.42694510C>G" "" "" "" "THAP1(NM_018105.3):c.86G>C (p.R29P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000721998" "0" "30" "8" "42698158" "42698158" "subst" "0.00113445" "01943" "THAP1_000004" "g.42698158G>T" "" "" "" "THAP1(NM_018105.2):c.71+9C>A, THAP1(NM_018105.3):c.71+9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000815634" "1" "90" "8" "42694355" "42694355" "subst" "0" "00006" "THAP1_000037" "g.42694355A>G" "" "{PMID:Fuchs 2009:19182804}" "" "" "" "Germline" "" "" "0" "" "" "g.42839212A>G" "" "pathogenic (dominant)" "" "0000815635" "1" "90" "8" "42694355" "42694355" "subst" "0" "00006" "THAP1_000037" "g.42694355A>G" "" "{PMID:Fuchs 2009:19182804}" "" "" "" "Germline" "" "" "0" "" "" "g.42839212A>G" "" "pathogenic (dominant)" "" "0000815636" "1" "90" "8" "42694355" "42694355" "subst" "0" "00006" "THAP1_000037" "g.42694355A>G" "" "{PMID:Fuchs 2009:19182804}" "" "" "" "Germline" "" "" "0" "" "" "g.42839212A>G" "" "pathogenic (dominant)" "" "0000815637" "1" "90" "8" "42694355" "42694355" "subst" "0" "00006" "THAP1_000037" "g.42694355A>G" "" "{PMID:Fuchs 2009:19182804}" "" "" "" "Germline" "" "" "0" "" "" "g.42839212A>G" "" "pathogenic (dominant)" "" "0000815638" "1" "90" "8" "42694457" "42694461" "delins" "0" "00006" "THAP1_000040" "g.42694457_42694461delinsTAAACCC" "" "{PMID:Fuchs 2009:19182804}" "" "[134_135insGGGTT;137_139delAAC] F45fs73x" "" "Germline" "" "" "0" "" "" "g.42839314_42839318delinsTAAACCC" "" "pathogenic (dominant)" "" "0000815639" "1" "90" "8" "42694457" "42694461" "delins" "0" "00006" "THAP1_000040" "g.42694457_42694461delinsTAAACCC" "" "{PMID:Fuchs 2009:19182804}" "" "[134_135insGGGTT;137_139delAAC] F45fs73x" "" "Germline" "" "" "0" "" "" "g.42839314_42839318delinsTAAACCC" "" "pathogenic (dominant)" "" "0000815640" "1" "90" "8" "42694457" "42694461" "delins" "0" "00006" "THAP1_000040" "g.42694457_42694461delinsTAAACCC" "" "{PMID:Fuchs 2009:19182804}" "" "[134_135insGGGTT;137_139delAAC] F45fs73x" "" "Germline" "" "" "0" "" "" "g.42839314_42839318delinsTAAACCC" "" "pathogenic (dominant)" "" "0000815641" "1" "90" "8" "42694457" "42694461" "delins" "0" "00006" "THAP1_000040" "g.42694457_42694461delinsTAAACCC" "" "{PMID:Fuchs 2009:19182804}" "" "[134_135insGGGTT;137_139delAAC] F45fs73x" "" "Germline" "" "" "0" "" "" "g.42839314_42839318delinsTAAACCC" "" "pathogenic (dominant)" "" "0000815642" "1" "90" "8" "42694457" "42694461" "delins" "0" "00006" "THAP1_000040" "g.42694457_42694461delinsTAAACCC" "" "{PMID:Fuchs 2009:19182804}" "" "[134_135insGGGTT;137_139delAAC] F45fs73x" "" "Germline" "" "" "0" "" "" "g.42839314_42839318delinsTAAACCC" "" "pathogenic (dominant)" "" "0000815643" "1" "90" "8" "42694457" "42694461" "delins" "0" "00006" "THAP1_000040" "g.42694457_42694461delinsTAAACCC" "" "{PMID:Fuchs 2009:19182804}" "" "[134_135insGGGTT;137_139delAAC] F45fs73x" "" "Germline" "" "" "0" "" "" "g.42839314_42839318delinsTAAACCC" "" "pathogenic (dominant)" "" "0000815644" "1" "90" "8" "42694457" "42694461" "delins" "0" "00006" "THAP1_000040" "g.42694457_42694461delinsTAAACCC" "" "{PMID:Fuchs 2009:19182804}" "" "[134_135insGGGTT;137_139delAAC] F45fs73x" "" "Germline" "" "" "0" "" "" "g.42839314_42839318delinsTAAACCC" "" "pathogenic (dominant)" "" "0000815645" "1" "90" "8" "42694457" "42694461" "delins" "0" "00006" "THAP1_000040" "g.42694457_42694461delinsTAAACCC" "" "{PMID:Fuchs 2009:19182804}" "" "[134_135insGGGTT;137_139delAAC] F45fs73x" "" "Germline" "" "" "0" "" "" "g.42839314_42839318delinsTAAACCC" "" "pathogenic (dominant)" "" "0000815646" "1" "90" "8" "42694457" "42694461" "delins" "0" "00006" "THAP1_000040" "g.42694457_42694461delinsTAAACCC" "" "{PMID:Fuchs 2009:19182804}" "" "[134_135insGGGTT;137_139delAAC] F45fs73x" "" "Germline" "" "" "0" "" "" "g.42839314_42839318delinsTAAACCC" "" "pathogenic (dominant)" "" "0000815647" "1" "90" "8" "42694457" "42694461" "delins" "0" "00006" "THAP1_000040" "g.42694457_42694461delinsTAAACCC" "" "{PMID:Fuchs 2009:19182804}" "" "[134_135insGGGTT;137_139delAAC] F45fs73x" "" "Germline" "" "" "0" "" "" "g.42839314_42839318delinsTAAACCC" "" "pathogenic (dominant)" "" "0000815648" "1" "90" "8" "42694457" "42694461" "delins" "0" "00006" "THAP1_000040" "g.42694457_42694461delinsTAAACCC" "" "{PMID:Fuchs 2009:19182804}" "" "[134_135insGGGTT;137_139delAAC] F45fs73x" "" "Germline" "" "" "0" "" "" "g.42839314_42839318delinsTAAACCC" "" "pathogenic (dominant)" "" "0000815649" "1" "90" "8" "42694457" "42694461" "delins" "0" "00006" "THAP1_000040" "g.42694457_42694461delinsTAAACCC" "" "{PMID:Fuchs 2009:19182804}" "" "[134_135insGGGTT;137_139delAAC] F45fs73x" "" "Germline" "" "" "0" "" "" "g.42839314_42839318delinsTAAACCC" "" "pathogenic (dominant)" "" "0000815650" "1" "90" "8" "42694457" "42694461" "delins" "0" "00006" "THAP1_000040" "g.42694457_42694461delinsTAAACCC" "" "{PMID:Fuchs 2009:19182804}" "" "[134_135insGGGTT;137_139delAAC] F45fs73x" "" "Germline" "" "" "0" "" "" "g.42839314_42839318delinsTAAACCC" "" "pathogenic (dominant)" "" "0000815651" "1" "90" "8" "42694457" "42694461" "delins" "0" "00006" "THAP1_000040" "g.42694457_42694461delinsTAAACCC" "" "{PMID:Fuchs 2009:19182804}" "" "[134_135insGGGTT;137_139delAAC] F45fs73x" "" "Germline" "" "" "0" "" "" "g.42839314_42839318delinsTAAACCC" "" "pathogenic (dominant)" "" "0000815652" "1" "90" "8" "42694457" "42694461" "delins" "0" "00006" "THAP1_000040" "g.42694457_42694461delinsTAAACCC" "" "{PMID:Fuchs 2009:19182804}" "" "[134_135insGGGTT;137_139delAAC] F45fs73x" "" "Germline" "" "" "0" "" "" "g.42839314_42839318delinsTAAACCC" "" "pathogenic (dominant)" "" "0000815653" "1" "90" "8" "42694457" "42694461" "delins" "0" "00006" "THAP1_000040" "g.42694457_42694461delinsTAAACCC" "" "{PMID:Fuchs 2009:19182804}" "" "[134_135insGGGTT;137_139delAAC] F45fs73x" "" "Germline" "" "" "0" "" "" "g.42839314_42839318delinsTAAACCC" "" "pathogenic (dominant)" "" "0000815654" "1" "90" "8" "42694457" "42694461" "delins" "0" "00006" "THAP1_000040" "g.42694457_42694461delinsTAAACCC" "" "{PMID:Fuchs 2009:19182804}" "" "[134_135insGGGTT;137_139delAAC] F45fs73x" "" "Germline" "" "" "0" "" "" "g.42839314_42839318delinsTAAACCC" "" "pathogenic (dominant)" "" "0000815655" "1" "90" "8" "42694457" "42694461" "delins" "0" "00006" "THAP1_000040" "g.42694457_42694461delinsTAAACCC" "" "{PMID:Fuchs 2009:19182804}" "" "[134_135insGGGTT;137_139delAAC] F45fs73x" "" "Germline" "" "" "0" "" "" "g.42839314_42839318delinsTAAACCC" "" "pathogenic (dominant)" "" "0000815656" "1" "90" "8" "42694457" "42694461" "delins" "0" "00006" "THAP1_000040" "g.42694457_42694461delinsTAAACCC" "" "{PMID:Fuchs 2009:19182804}" "" "[134_135insGGGTT;137_139delAAC] F45fs73x" "" "Germline" "" "" "0" "" "" "g.42839314_42839318delinsTAAACCC" "" "pathogenic (dominant)" "" "0000815657" "1" "90" "8" "42694457" "42694461" "delins" "0" "00006" "THAP1_000040" "g.42694457_42694461delinsTAAACCC" "" "{PMID:Fuchs 2009:19182804}" "" "[134_135insGGGTT;137_139delAAC] F45fs73x" "" "Germline" "" "" "0" "" "" "g.42839314_42839318delinsTAAACCC" "" "pathogenic (dominant)" "" "0000815658" "1" "90" "8" "42694457" "42694461" "delins" "0" "00006" "THAP1_000040" "g.42694457_42694461delinsTAAACCC" "" "{PMID:Fuchs 2009:19182804}" "" "[134_135insGGGTT;137_139delAAC] F45fs73x" "" "Germline" "" "" "0" "" "" "g.42839314_42839318delinsTAAACCC" "" "pathogenic (dominant)" "" "0000815659" "1" "90" "8" "42694457" "42694461" "delins" "0" "00006" "THAP1_000040" "g.42694457_42694461delinsTAAACCC" "" "{PMID:Fuchs 2009:19182804}" "" "[134_135insGGGTT;137_139delAAC] F45fs73x" "" "Germline" "" "" "0" "" "" "g.42839314_42839318delinsTAAACCC" "" "pathogenic (dominant)" "" "0000815660" "1" "90" "8" "42694457" "42694461" "delins" "0" "00006" "THAP1_000040" "g.42694457_42694461delinsTAAACCC" "" "{PMID:Fuchs 2009:19182804}" "" "[134_135insGGGTT;137_139delAAC] F45fs73x" "" "Germline" "" "" "0" "" "" "g.42839314_42839318delinsTAAACCC" "" "pathogenic (dominant)" "" "0000815661" "1" "90" "8" "42694457" "42694461" "delins" "0" "00006" "THAP1_000040" "g.42694457_42694461delinsTAAACCC" "" "{PMID:Fuchs 2009:19182804}" "" "[134_135insGGGTT;137_139delAAC] F45fs73x" "" "Germline" "" "" "0" "" "" "g.42839314_42839318delinsTAAACCC" "" "pathogenic (dominant)" "" "0000815663" "1" "90" "8" "42693287" "42693287" "del" "0" "00006" "THAP1_000031" "g.42693287del" "" "{PMID:Bressman 2009:19345147}" "" "460delC" "" "Germline" "" "" "0" "" "" "g.42838144del" "" "pathogenic (dominant)" "" "0000815664" "1" "90" "8" "42694457" "42694461" "delins" "0" "00006" "THAP1_000040" "g.42694457_42694461delinsTAAACCC" "" "{PMID:Bressman 2009:19345147}" "" "134_135insGGGTT;137_139delAAC" "" "Germline" "" "" "0" "" "" "g.42839314_42839318delinsTAAACCC" "" "pathogenic (dominant)" "" "0000815665" "1" "90" "8" "42698236" "42698236" "del" "0" "00006" "THAP1_000054" "g.42698236del" "" "{PMID:Bressman 2009:19345147}" "" "2delT" "" "Germline" "" "" "0" "" "" "g.42843093del" "" "pathogenic (dominant)" "" "0000815666" "1" "90" "8" "42694511" "42694511" "subst" "0" "00006" "THAP1_000042" "g.42694511G>A" "" "{PMID:Bressman 2009:19345147}" "" "" "" "Germline" "" "" "0" "" "" "g.42839368G>A" "" "pathogenic (dominant)" "" "0000815667" "1" "90" "8" "42694481" "42694481" "subst" "0" "00006" "THAP1_000041" "g.42694481C>T" "" "{PMID:Bressman 2009:19345147}" "" "" "" "Germline" "" "" "0" "" "" "g.42839338C>T" "" "pathogenic (dominant)" "" "0000815668" "1" "90" "8" "42694330" "42694330" "subst" "0" "00006" "THAP1_000036" "g.42694330T>C" "" "{PMID:Bressman 2009:19345147}" "" "" "" "Germline" "" "" "0" "" "" "g.42839187T>C" "" "pathogenic (dominant)" "" "0000815669" "1" "90" "8" "42694510" "42694510" "subst" "0" "00006" "THAP1_000010" "g.42694510C>G" "" "{PMID:Bressman 2009:19345147}" "" "" "" "Germline" "" "" "0" "" "" "g.42839367C>G" "" "pathogenic (dominant)" "" "0000815670" "1" "90" "8" "42698202" "42698202" "subst" "0" "00006" "THAP1_000052" "g.42698202G>T" "" "{PMID:Bressman 2009:19345147}" "" "" "" "Germline" "" "" "0" "" "" "g.42843059G>T" "" "pathogenic (dominant)" "" "0000815671" "1" "90" "8" "42698177" "42698177" "subst" "0" "00006" "THAP1_000047" "g.42698177A>T" "" "{PMID:Bressman 2009:19345147}" "" "" "" "Germline" "" "" "0" "" "" "g.42843034A>T" "" "pathogenic (dominant)" "" "0000815672" "1" "90" "8" "42693277" "42693277" "del" "0" "00006" "THAP1_000030" "g.42693277del" "" "{PMID:Djarmati 2009:19345148}" "" "474delA" "" "Germline" "" "" "0" "" "" "g.42838134del" "" "pathogenic (dominant)" "" "0000815673" "1" "90" "8" "42693362" "42693363" "del" "0" "00006" "THAP1_000035" "g.42693362_42693363del" "" "{PMID:Djarmati 2009:19345148}" "" "388_389delTC" "" "Germline" "" "" "0" "" "" "g.42838219_42838220del" "" "pathogenic (dominant)" "" "0000815674" "0" "50" "8" "42698473" "42698474" "delins" "0" "00006" "THAP1_000025" "g.42698473_42698474delinsAA" "20/320 patients" "{PMID:Djarmati 2009:19345148}" "" "-236_235GA>TT" "" "Germline" "" "" "0" "" "" "g.42843330_42843331delinsAA" "" "VUS" "" "0000815675" "0" "50" "8" "42698473" "42698474" "delins" "0" "00006" "THAP1_000025" "g.42698473_42698474delinsAA" "7/355 controls" "{PMID:Djarmati 2009:19345148}" "" "-236_235GA>TT" "" "Germline" "" "" "0" "" "" "g.42843330_42843331delinsAA" "" "VUS" "" "0000815676" "1" "90" "8" "42698213" "42698213" "subst" "0" "00006" "THAP1_000053" "g.42698213C>A" "" "{PMID:Xiao 2010:20083799}" "" "" "" "Germline" "" "" "0" "" "" "g.42843070C>A" "" "pathogenic (dominant)" "" "0000815677" "1" "90" "8" "42693301" "42693301" "subst" "0" "00006" "THAP1_000032" "g.42693301A>G" "" "{PMID:Xiao 2010:20083799}" "" "" "" "Germline" "" "" "0" "" "" "g.42838158A>G" "" "pathogenic (dominant)" "" "0000815678" "1" "90" "8" "42693188" "42693188" "subst" "0" "00006" "THAP1_000029" "g.42693188G>T" "" "{PMID:Xiao 2010:20083799}" "" "" "" "Germline" "" "" "0" "" "" "g.42838045G>T" "" "pathogenic (dominant)" "" "0000815679" "1" "90" "8" "42698188" "42698188" "subst" "2.86034E-5" "00006" "THAP1_000049" "g.42698188T>C" "" "{PMID:Xiao 2010:20083799}" "" "" "" "Germline" "" "" "0" "" "" "g.42843045T>C" "" "pathogenic" "" "0000815680" "1" "90" "8" "42693352" "42693352" "subst" "1.62435E-5" "00006" "THAP1_000034" "g.42693352A>G" "" "{PMID:Xiao 2010:20083799}" "" "" "" "Germline" "" "" "0" "" "" "g.42838209A>G" "" "pathogenic" "" "0000815681" "1" "90" "8" "42693251" "42693251" "subst" "2.03034E-5" "00006" "THAP1_000005" "g.42693251C>T" "" "{PMID:Xiao 2010:20083799}" "" "" "" "Germline" "" "" "0" "" "" "g.42838108C>T" "" "pathogenic" "" "0000815682" "0" "50" "8" "42698279" "42698279" "subst" "4.06848E-6" "00006" "THAP1_000056" "g.42698279G>A" "" "{PMID:Xiao 2010:20083799}" "" "" "" "Germline" "" "" "0" "" "" "g.42843136G>A" "" "VUS" "" "0000815683" "0" "50" "8" "42698279" "42698279" "subst" "4.06848E-6" "00006" "THAP1_000056" "g.42698279G>A" "" "{PMID:Xiao 2010:20083799}" "" "" "" "Germline" "" "" "0" "" "" "g.42843136G>A" "" "VUS" "" "0000815684" "0" "50" "8" "42698181" "42698181" "subst" "8.18378E-5" "00006" "THAP1_000048" "g.42698181G>A" "" "{PMID:Xiao 2010:20083799}" "" "" "" "Germline" "" "" "0" "" "" "g.42843038G>A" "" "VUS" "" "0000815685" "0" "50" "8" "42698158" "42698158" "subst" "0.00113445" "00006" "THAP1_000004" "g.42698158G>T" "7/1210 patients" "{PMID:Xiao 2010:20083799}" "" "" "" "Germline" "" "" "0" "" "" "g.42843015G>T" "" "VUS" "" "0000815686" "0" "50" "8" "42698158" "42698158" "subst" "0.00113445" "00006" "THAP1_000004" "g.42698158G>T" "1/600 controls" "{PMID:Xiao 2010:20083799}" "" "" "" "Germline" "" "" "0" "" "" "g.42843015G>T" "" "VUS" "" "0000815687" "1" "90" "8" "42693179" "42693179" "del" "0" "00006" "THAP1_000028" "g.42693179del" "" "{PMID:Lohmann 2012:218471439}" "" "570delA" "" "Germline" "" "" "0" "" "" "g.42838036del" "" "pathogenic (dominant)" "" "0000815688" "1" "90" "8" "42698168" "42698168" "subst" "0" "00006" "THAP1_000045" "g.42698168T>C" "" "{PMID:Lohmann 2012:218471439}" "" "" "" "Germline" "" "" "0" "" "" "g.42843025T>C" "" "pathogenic" "" "0000815689" "1" "90" "8" "42698200" "42698200" "subst" "0" "00006" "THAP1_000051" "g.42698200C>T" "" "{PMID:Lohmann 2012:218471439}" "" "" "" "Germline" "" "" "0" "" "" "g.42843057C>T" "" "pathogenic" "" "0000815690" "1" "90" "8" "42698192" "42698192" "subst" "0" "00006" "THAP1_000050" "g.42698192T>C" "" "{PMID:Lohmann 2012:218471439}" "" "" "" "Germline" "" "" "0" "" "" "g.42843049T>C" "" "pathogenic" "" "0000815691" "1" "90" "8" "42698170" "42698170" "subst" "0" "00006" "THAP1_000046" "g.42698170T>G" "" "{PMID:Lohmann 2012:218471439}" "" "" "" "Germline" "" "" "0" "" "" "g.42843027T>G" "" "pathogenic (dominant)" "" "0000815692" "1" "90" "8" "42694519" "42694519" "subst" "0" "00006" "THAP1_000043" "g.42694519G>A" "" "{PMID:Lohmann 2012:218471439}" "" "" "" "Germline" "" "" "0" "" "" "g.42839376G>A" "" "pathogenic (dominant)" "" "0000815693" "0" "50" "8" "42698269" "42698269" "subst" "1.22211E-5" "00006" "THAP1_000055" "g.42698269G>A" "" "{PMID:Lohmann 2012:218471439}" "" "" "" "Germline" "" "" "0" "" "" "g.42843126G>A" "" "VUS" "" "0000815694" "1" "50" "8" "42693104" "42693104" "subst" "0" "00006" "THAP1_000027" "g.42693104T>C" "" "{PMID:Lohmann 2012:218471439}" "" "" "" "Germline" "" "" "0" "" "" "g.42837961T>C" "" "VUS" "" "0000815695" "0" "10" "8" "42694358" "42694358" "subst" "2.84299E-5" "00006" "THAP1_000038" "g.42694358T>C" "" "{PMID:Lohmann 2012:218471439}" "" "" "" "Germline" "" "" "0" "" "" "g.42839215T>C" "" "benign" "" "0000815696" "0" "30" "8" "42693095" "42693095" "subst" "0" "00006" "THAP1_000026" "g.42693095T>A" "" "{PMID:Lohmann 2012:218471439}" "" "" "" "Germline" "" "" "0" "" "" "g.42837952T>A" "" "VUS" "" "0000815697" "0" "90" "8" "42698168" "42698168" "subst" "0" "00006" "THAP1_000045" "g.42698168T>C" "" "{PMID:Lohmann 2012:218471439}" "" "" "luciferase reporter gene assay 0.6 THAP1 activity" "In vitro (cloned)" "" "" "0" "" "" "g.42843025T>C" "" "NA" "" "0000815698" "0" "70" "8" "42698200" "42698200" "subst" "0" "00006" "THAP1_000051" "g.42698200C>T" "" "{PMID:Lohmann 2012:218471439}" "" "" "luciferase reporter gene assay 0.8 THAP1 activity" "In vitro (cloned)" "" "" "0" "" "" "g.42843057C>T" "" "NA" "" "0000815699" "0" "90" "8" "42698192" "42698192" "subst" "0" "00006" "THAP1_000050" "g.42698192T>C" "" "{PMID:Lohmann 2012:218471439}" "" "" "luciferase reporter gene assay 0.6 THAP1 activity" "In vitro (cloned)" "" "" "0" "" "" "g.42843049T>C" "" "NA" "" "0000815700" "0" "90" "8" "42698170" "42698170" "subst" "0" "00006" "THAP1_000046" "g.42698170T>G" "" "{PMID:Lohmann 2012:218471439}" "" "" "luciferase reporter gene assay 0.2 THAP1 activity" "In vitro (cloned)" "" "" "0" "" "" "g.42843027T>G" "" "NA" "" "0000815701" "0" "90" "8" "42694519" "42694519" "subst" "0" "00006" "THAP1_000043" "g.42694519G>A" "" "{PMID:Lohmann 2012:218471439}" "" "" "luciferase reporter gene assay 0.4 THAP1 activity" "In vitro (cloned)" "" "" "0" "" "" "g.42839376G>A" "" "NA" "" "0000815702" "0" "10" "8" "42694358" "42694358" "subst" "2.84299E-5" "00006" "THAP1_000038" "g.42694358T>C" "" "{PMID:Lohmann 2012:218471439}" "" "" "luciferase reporter gene assay 1.0 THAP1 activity" "In vitro (cloned)" "" "" "0" "" "" "g.42839215T>C" "" "NA" "" "0000815703" "0" "30" "8" "42698473" "42698474" "delins" "0" "00006" "THAP1_000025" "g.42698473_42698474delinsAA" "17/378 patients" "{PMID:Lohmann 2012:218471439}" "" "" "" "Germline" "" "" "0" "" "" "g.42843330_42843331delinsAA" "" "likely benign" "" "0000815704" "0" "30" "8" "42698473" "42698474" "delins" "0" "00006" "THAP1_000025" "g.42698473_42698474delinsAA" "6/120 patients" "{PMID:Lohmann 2012:218471439}" "" "" "" "Germline" "" "" "0" "" "" "g.42843330_42843331delinsAA" "" "likely benign" "" "0000815705" "0" "30" "8" "42698473" "42698474" "delins" "0" "00006" "THAP1_000025" "g.42698473_42698474delinsAA" "19/365 controls" "{PMID:Lohmann 2012:218471439}" "" "" "" "Germline" "" "" "0" "" "" "g.42843330_42843331delinsAA" "" "likely benign" "" "0000815709" "1" "90" "8" "42693306" "42693313" "del" "0" "00006" "THAP1_000033" "g.42693306_42693313del" "" "{DOI:Domingo 2021:10.1016/j.ajhg.2021.09.017}" "" "" "variant introduced in induced pluripotent stem cell, characterisation incl. transcript profiling" "In vitro (cloned)" "" "" "0" "" "" "g.42838163_42838170del" "" "NA" "" "0000815710" "1" "90" "8" "42694435" "42694435" "subst" "0" "00006" "THAP1_000039" "g.42694435C>T" "" "{DOI:Domingo 2021:10.1016/j.ajhg.2021.09.017}" "" "" "variant introduced in induced pluripotent stem cell, characterisation incl. transcript profiling; no significant effects observed" "In vitro (cloned)" "" "" "0" "" "" "g.42839292C>T" "" "NA" "" "0000815711" "1" "90" "8" "42698170" "42698170" "subst" "0" "00006" "THAP1_000046" "g.42698170T>G" "" "{DOI:Domingo 2021:10.1016/j.ajhg.2021.09.017}" "" "" "variant introduced in induced pluripotent stem cell, characterisation incl. transcript profiling" "In vitro (cloned)" "" "" "0" "" "" "g.42843027T>G" "" "NA" "" "0000815712" "1" "30" "8" "42693320" "42693320" "subst" "5.2791E-5" "00006" "THAP1_000023" "g.42693320T>C" "" "{DOI:Domingo 2021:10.1016/j.ajhg.2021.09.017}" "" "" "variant introduced in induced pluripotent stem cell, characterisation incl. transcript profiling" "In vitro (cloned)" "" "" "0" "" "" "g.42838177T>C" "" "NA" "" "0000815713" "1" "90" "8" "42694519" "42694519" "subst" "0" "00006" "THAP1_000044" "g.42694519G>C" "" "{DOI:Domingo 2021:10.1016/j.ajhg.2021.09.017}" "" "" "variant introduced in induced pluripotent stem cell, characterisation incl. transcript profiling" "In vitro (cloned)" "" "" "0" "" "" "g.42839376G>C" "" "NA" "" "0000815714" "1" "70" "8" "42698177" "42698177" "subst" "0" "00006" "THAP1_000047" "g.42698177A>T" "" "{DOI:Domingo 2021:10.1016/j.ajhg.2021.09.017}" "" "" "variant introduced in induced pluripotent stem cell, characterisation incl. transcript profiling" "In vitro (cloned)" "" "" "0" "" "" "g.42843034A>T" "" "NA" "" "0000815715" "1" "90" "8" "42698202" "42698202" "subst" "0" "00006" "THAP1_000052" "g.42698202G>T" "" "{DOI:Domingo 2021:10.1016/j.ajhg.2021.09.017}" "" "" "variant introduced in induced pluripotent stem cell, characterisation incl. transcript profiling" "In vitro (cloned)" "" "" "0" "" "" "g.42843059G>T" "" "NA" "" "0000815716" "3" "90" "8" "42698177" "42698177" "subst" "0" "00006" "THAP1_000047" "g.42698177A>T" "" "{DOI:Domingo 2021:10.1016/j.ajhg.2021.09.017}" "" "" "variant introduced in induced pluripotent stem cell, characterisation incl. transcript profiling; effect homozygous change much stronger compared to heterozygous" "In vitro (cloned)" "" "" "0" "" "" "g.42843034A>T" "" "NA" "" "0000851928" "0" "50" "8" "42694349" "42694349" "subst" "4.06128E-6" "02327" "THAP1_000058" "g.42694349A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861220" "0" "70" "8" "42693339" "42693339" "subst" "0" "02327" "THAP1_000057" "g.42693339G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000908569" "0" "90" "8" "42698232" "42698233" "ins" "0" "00006" "THAP1_000059" "g.42698232_42698233insT" "" "{PMID:Veeramah 2013:23647072}" "" "6insA (V2fs)" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000965002" "0" "50" "8" "42694420" "42694420" "subst" "0" "02325" "THAP1_000060" "g.42694420G>A" "" "" "" "THAP1(NM_018105.3):c.176C>T (p.T59I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes THAP1 ## Count = 111 "{{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}}" "0000311846" "00021067" "50" "524" "0" "524" "0" "c.524G>A" "r.(?)" "p.(Arg175Gln)" "" "0000311847" "00021067" "30" "637" "0" "637" "0" "c.637G>A" "r.(?)" "p.(Ala213Thr)" "" "0000311848" "00021067" "30" "71" "9" "71" "9" "c.71+9C>A" "r.(=)" "p.(=)" "" "0000316594" "00021067" "30" "601" "0" "601" "0" "c.601C>T" "r.(?)" "p.(Leu201=)" "" "0000338073" "00021067" "30" "71" "9" "71" "9" "c.71+9C>A" "r.(=)" "p.(=)" "" "0000338074" "00021067" "50" "-34" "0" "-34" "0" "c.-34G>A" "r.(?)" "p.(=)" "" "0000340833" "00021067" "30" "387" "0" "387" "0" "c.387C>G" "r.(?)" "p.(Leu129=)" "" "0000341204" "00021067" "50" "496" "0" "496" "0" "c.496G>A" "r.(?)" "p.(Ala166Thr)" "" "0000342572" "00021067" "50" "86" "0" "86" "0" "c.86G>C" "r.(?)" "p.(Arg29Pro)" "" "0000344362" "00021067" "50" "98" "0" "98" "0" "c.98G>A" "r.(?)" "p.(Cys33Tyr)" "" "0000344579" "00021067" "70" "464" "0" "464" "0" "c.464A>C" "r.(?)" "p.(Gln155Pro)" "" "0000344746" "00021067" "90" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Gln3Ter)" "" "0000344819" "00021067" "50" "8" "0" "8" "0" "c.8A>C" "r.(?)" "p.(Gln3Pro)" "" "0000348125" "00021067" "50" "317" "0" "317" "0" "c.317C>T" "r.(?)" "p.(Pro106Leu)" "" "0000349143" "00021067" "90" "17" "0" "17" "0" "c.17C>T" "r.(?)" "p.(Ser6Phe)" "" "0000351189" "00021067" "90" "72" "-1" "72" "-1" "c.72-1G>T" "r.spl?" "p.?" "" "0000534846" "00021067" "30" "465" "0" "465" "0" "c.465A>G" "r.(?)" "p.(Gln155=)" "" "0000534847" "00021067" "50" "421" "0" "421" "0" "c.421G>T" "r.(?)" "p.(Asp141Tyr)" "" "0000534849" "00021067" "90" "86" "0" "86" "0" "c.86G>A" "r.(?)" "p.(Arg29Gln)" "" "0000664340" "00021067" "90" "176" "0" "580" "0" "c.(45_176)_(580_?)del" "r.(?)" "p.(?)" "" "0000664341" "00021067" "90" "176" "0" "580" "0" "c.(45_176)_(580_?)del" "r.(?)" "p.(?)" "" "0000664342" "00021067" "90" "176" "0" "580" "0" "c.(45_176)_(580_?)del" "r.(?)" "p.(?)" "" "0000678388" "00021067" "90" "499" "0" "499" "0" "c.499C>T" "r.(?)" "p.(Gln167Ter)" "" "0000690272" "00021067" "30" "426" "0" "426" "0" "c.426A>C" "r.(?)" "p.(Thr142=)" "" "0000708347" "00021067" "50" "427" "0" "427" "0" "c.427A>G" "r.(?)" "p.(Met143Val)" "3" "0000721996" "00021067" "90" "250" "0" "251" "0" "c.250_251del" "r.(?)" "p.(Thr84*)" "" "0000721997" "00021067" "90" "86" "0" "86" "0" "c.86G>C" "r.(?)" "p.(Arg29Pro)" "" "0000721998" "00021067" "30" "71" "9" "71" "9" "c.71+9C>A" "r.(=)" "p.(=)" "" "0000815634" "00021067" "90" "241" "0" "241" "0" "c.241T>C" "r.(?)" "p.(Phe81Leu)" "" "0000815635" "00021067" "90" "241" "0" "241" "0" "c.241T>C" "r.(?)" "p.(Phe81Leu)" "" "0000815636" "00021067" "90" "241" "0" "241" "0" "c.241T>C" "r.(?)" "p.(Phe81Leu)" "" "0000815637" "00021067" "90" "241" "0" "241" "0" "c.241T>C" "r.(?)" "p.(Phe81Leu)" "" "0000815638" "00021067" "90" "135" "0" "139" "0" "c.135_139delinsGGGTTTA" "r.(?)" "p.(Phe45LeufsTer29)" "" "0000815639" "00021067" "90" "135" "0" "139" "0" "c.135_139delinsGGGTTTA" "r.(?)" "p.(Phe45LeufsTer29)" "" "0000815640" "00021067" "90" "135" "0" "139" "0" "c.135_139delinsGGGTTTA" "r.(?)" "p.(Phe45LeufsTer29)" "" "0000815641" "00021067" "90" "135" "0" "139" "0" "c.135_139delinsGGGTTTA" "r.(?)" "p.(Phe45LeufsTer29)" "" "0000815642" "00021067" "90" "135" "0" "139" "0" "c.135_139delinsGGGTTTA" "r.(?)" "p.(Phe45LeufsTer29)" "" "0000815643" "00021067" "90" "135" "0" "139" "0" "c.135_139delinsGGGTTTA" "r.(?)" "p.(Phe45LeufsTer29)" "" "0000815644" "00021067" "90" "135" "0" "139" "0" "c.135_139delinsGGGTTTA" "r.(?)" "p.(Phe45LeufsTer29)" "" "0000815645" "00021067" "90" "135" "0" "139" "0" "c.135_139delinsGGGTTTA" "r.(?)" "p.(Phe45LeufsTer29)" "" "0000815646" "00021067" "90" "135" "0" "139" "0" "c.135_139delinsGGGTTTA" "r.(?)" "p.(Phe45LeufsTer29)" "" "0000815647" "00021067" "90" "135" "0" "139" "0" "c.135_139delinsGGGTTTA" "r.(?)" "p.(Phe45LeufsTer29)" "" "0000815648" "00021067" "90" "135" "0" "139" "0" "c.135_139delinsGGGTTTA" "r.(?)" "p.(Phe45LeufsTer29)" "" "0000815649" "00021067" "90" "135" "0" "139" "0" "c.135_139delinsGGGTTTA" "r.(?)" "p.(Phe45LeufsTer29)" "" "0000815650" "00021067" "90" "135" "0" "139" "0" "c.135_139delinsGGGTTTA" "r.(?)" "p.(Phe45LeufsTer29)" "" "0000815651" "00021067" "90" "135" "0" "139" "0" "c.135_139delinsGGGTTTA" "r.(?)" "p.(Phe45LeufsTer29)" "" "0000815652" "00021067" "90" "135" "0" "139" "0" "c.135_139delinsGGGTTTA" "r.(?)" "p.(Phe45LeufsTer29)" "" "0000815653" "00021067" "90" "135" "0" "139" "0" "c.135_139delinsGGGTTTA" "r.(?)" "p.(Phe45LeufsTer29)" "" "0000815654" "00021067" "90" "135" "0" "139" "0" "c.135_139delinsGGGTTTA" "r.(?)" "p.(Phe45LeufsTer29)" "" "0000815655" "00021067" "90" "135" "0" "139" "0" "c.135_139delinsGGGTTTA" "r.(?)" "p.(Phe45LeufsTer29)" "" "0000815656" "00021067" "90" "135" "0" "139" "0" "c.135_139delinsGGGTTTA" "r.(?)" "p.(Phe45LeufsTer29)" "" "0000815657" "00021067" "90" "135" "0" "139" "0" "c.135_139delinsGGGTTTA" "r.(?)" "p.(Phe45LeufsTer29)" "" "0000815658" "00021067" "90" "135" "0" "139" "0" "c.135_139delinsGGGTTTA" "r.(?)" "p.(Phe45LeufsTer29)" "" "0000815659" "00021067" "90" "135" "0" "139" "0" "c.135_139delinsGGGTTTA" "r.(?)" "p.(Phe45LeufsTer29)" "" "0000815660" "00021067" "90" "135" "0" "139" "0" "c.135_139delinsGGGTTTA" "r.(?)" "p.(Phe45LeufsTer29)" "" "0000815661" "00021067" "90" "135" "0" "139" "0" "c.135_139delinsGGGTTTA" "r.(?)" "p.(Phe45LeufsTer29)" "" "0000815663" "00021067" "90" "460" "0" "460" "0" "c.460del" "r.(?)" "p.(Gln154SerfsTer27)" "" "0000815664" "00021067" "90" "135" "0" "139" "0" "c.135_139delinsGGGTTTA" "r.(?)" "p.(Phe45LeufsTer29)" "" "0000815665" "00021067" "90" "2" "0" "2" "0" "c.2del" "r.(?)" "p.(Met1?)" "" "0000815666" "00021067" "90" "85" "0" "85" "0" "c.85C>T" "r.(?)" "p.(Arg29Ter)" "" "0000815667" "00021067" "90" "115" "0" "115" "0" "c.115G>A" "r.(?)" "p.(Ala39Thr)" "" "0000815668" "00021067" "90" "266" "0" "266" "0" "c.266A>G" "r.(?)" "p.(Lys89Arg)" "" "0000815669" "00021067" "90" "86" "0" "86" "0" "c.86G>C" "r.(?)" "p.(Arg29Pro)" "" "0000815670" "00021067" "90" "36" "0" "36" "0" "c.36C>A" "r.(?)" "p.(Asn12Lys)" "" "0000815671" "00021067" "90" "61" "0" "61" "0" "c.61T>A" "r.(?)" "p.(Ser21Thr)" "" "0000815672" "00021067" "90" "474" "0" "474" "0" "c.474del" "r.(?)" "p.(Lys158AsnfsTer23)" "" "0000815673" "00021067" "90" "388" "0" "389" "0" "c.388_389del" "r.(?)" "p.(Val131PhefsTer3)" "" "0000815674" "00021067" "50" "-237" "0" "-236" "0" "c.-237_-236delinsTT" "r.(?)" "p.(?)" "1" "0000815675" "00021067" "50" "-237" "0" "-236" "0" "c.-237_-236delinsTT" "r.(?)" "p.(?)" "1" "0000815676" "00021067" "90" "25" "0" "25" "0" "c.25G>T" "r.(?)" "p.(Gly9Cys)" "" "0000815677" "00021067" "90" "446" "0" "446" "0" "c.446T>C" "r.(?)" "p.(Ile149Thr)" "" "0000815678" "00021067" "90" "559" "0" "559" "0" "c.559C>A" "r.(?)" "p.(Gln187Lys)" "" "0000815679" "00021067" "90" "50" "0" "50" "0" "c.50A>G" "r.(?)" "p.(Asp17Gly)" "" "0000815680" "00021067" "90" "395" "0" "395" "0" "c.395T>C" "r.(?)" "p.(Phe132Ser)" "" "0000815681" "00021067" "90" "496" "0" "496" "0" "c.496G>A" "r.(?)" "p.(Ala166Thr)" "" "0000815682" "00021067" "50" "-42" "0" "-42" "0" "c.-42C>T" "r.(?)" "p.(?)" "" "0000815683" "00021067" "50" "-42" "0" "-42" "0" "c.-42C>T" "r.(?)" "p.(?)" "" "0000815684" "00021067" "50" "57" "0" "57" "0" "c.57C>T" "r.(?)" "p.(Pro19=)" "" "0000815685" "00021067" "50" "71" "9" "71" "9" "c.71+9C>A" "r.(?)" "p.(?)" "" "0000815686" "00021067" "50" "71" "9" "71" "9" "c.71+9C>A" "r.(?)" "p.(?)" "" "0000815687" "00021067" "90" "570" "0" "570" "0" "c.570del" "r.(?)" "p.(Asp191ThrfsTer9)" "" "0000815688" "00021067" "90" "70" "0" "70" "0" "c.70A>G" "r.(?)" "p.(Lys24Glu)" "" "0000815689" "00021067" "90" "38" "0" "38" "0" "c.38G>A" "r.(?)" "p.(Arg13His)" "" "0000815690" "00021067" "90" "46" "0" "46" "0" "c.46A>G" "r.(?)" "p.(Lys16Glu)" "" "0000815691" "00021067" "90" "68" "0" "68" "0" "c.68A>C" "r.(?)" "p.(His23Pro)" "" "0000815692" "00021067" "90" "77" "0" "77" "0" "c.77C>T" "r.(?)" "p.(Pro26Leu)" "" "0000815693" "00021067" "50" "-32" "0" "-32" "0" "c.-32C>T" "r.(?)" "p.?" "" "0000815694" "00021067" "50" "643" "0" "643" "0" "c.*1A>G" "r.(?)" "p.?" "" "0000815695" "00021067" "10" "238" "0" "238" "0" "c.238A>G" "r.(?)" "p.(Ile80Val)" "" "0000815696" "00021067" "30" "652" "0" "652" "0" "c.*10A>T" "r.(?)" "p.?" "" "0000815697" "00021067" "90" "70" "0" "70" "0" "c.70A>G" "-" "p.Lys24Glu" "" "0000815698" "00021067" "70" "38" "0" "38" "0" "c.38G>A" "-" "p.Arg13His" "" "0000815699" "00021067" "90" "46" "0" "46" "0" "c.46A>G" "-" "p.Lys16Glu" "" "0000815700" "00021067" "90" "68" "0" "68" "0" "c.68A>C" "-" "p.His23Pro" "" "0000815701" "00021067" "90" "77" "0" "77" "0" "c.77C>T" "-" "p.Pro26Leu" "" "0000815702" "00021067" "10" "238" "0" "238" "0" "c.238A>G" "-" "p.Ile80Val" "" "0000815703" "00021067" "30" "-237" "0" "-236" "0" "c.-237_-236delinsTT" "r.(?)" "p.(?)" "1" "0000815704" "00021067" "30" "-237" "0" "-236" "0" "c.-237_-236delinsTT" "r.(?)" "p.(?)" "1" "0000815705" "00021067" "30" "-237" "0" "-236" "0" "c.-237_-236delinsTT" "r.(?)" "p.(?)" "1" "0000815709" "00021067" "90" "436" "0" "443" "0" "c.436_443del" "r.(?)" "p.(Arg146Aspfs∗9)" "" "0000815710" "00021067" "90" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr)" "" "0000815711" "00021067" "90" "68" "0" "68" "0" "c.68A>C" "r.(?)" "p.(His23Pro)" "" "0000815712" "00021067" "30" "427" "0" "427" "0" "c.427A>G" "r.(?)" "p.(Met143Val)" "" "0000815713" "00021067" "90" "77" "0" "77" "0" "c.77C>G" "r.(?)" "p.(Pro26Arg)" "" "0000815714" "00021067" "70" "61" "0" "61" "0" "c.61T>A" "r.(?)" "p.(Ser21Thr)" "" "0000815715" "00021067" "90" "36" "0" "36" "0" "c.36C>A" "r.(?)" "p.(Asn12Lys)" "" "0000815716" "00021067" "90" "61" "0" "61" "0" "c.61T>A" "r.(?)" "p.(Ser21Thr)" "" "0000851928" "00021067" "50" "247" "0" "247" "0" "c.247T>C" "r.(?)" "p.(Cys83Arg)" "" "0000861220" "00021067" "70" "408" "0" "408" "0" "c.408C>G" "r.(?)" "p.(Asn136Lys)" "" "0000908569" "00021067" "90" "5" "0" "6" "0" "c.5_6insA" "r.(?)" "p.(Gln3Alafs*32)" "" "0000965002" "00021067" "50" "176" "0" "176" "0" "c.176C>T" "r.(?)" "p.(Thr59Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 70 "{{screeningid}}" "{{variantid}}" "0000301407" "0000664340" "0000301408" "0000664341" "0000301409" "0000664342" "0000325357" "0000708347" "0000387532" "0000815634" "0000387533" "0000815635" "0000387534" "0000815636" "0000387535" "0000815637" "0000387536" "0000815638" "0000387537" "0000815639" "0000387538" "0000815640" "0000387539" "0000815641" "0000387540" "0000815642" "0000387541" "0000815643" "0000387542" "0000815644" "0000387543" "0000815645" "0000387544" "0000815646" "0000387545" "0000815647" "0000387546" "0000815648" "0000387547" "0000815649" "0000387548" "0000815650" "0000387549" "0000815651" "0000387550" "0000815652" "0000387551" "0000815653" "0000387552" "0000815654" "0000387553" "0000815655" "0000387554" "0000815656" "0000387555" "0000815657" "0000387556" "0000815658" "0000387557" "0000815659" "0000387558" "0000815660" "0000387559" "0000815661" "0000387561" "0000815663" "0000387562" "0000815664" "0000387563" "0000815665" "0000387564" "0000815666" "0000387565" "0000815667" "0000387566" "0000815668" "0000387567" "0000815669" "0000387568" "0000815670" "0000387569" "0000815671" "0000387570" "0000815672" "0000387571" "0000815673" "0000387572" "0000815674" "0000387573" "0000815675" "0000387574" "0000815676" "0000387575" "0000815677" "0000387576" "0000815678" "0000387577" "0000815679" "0000387578" "0000815680" "0000387579" "0000815681" "0000387580" "0000815682" "0000387581" "0000815683" "0000387582" "0000815684" "0000387583" "0000815685" "0000387584" "0000815686" "0000387585" "0000815687" "0000387586" "0000815688" "0000387587" "0000815689" "0000387588" "0000815690" "0000387589" "0000815691" "0000387590" "0000815692" "0000387591" "0000815693" "0000387592" "0000815694" "0000387592" "0000815696" "0000387593" "0000815695" "0000387594" "0000815703" "0000387595" "0000815704" "0000387596" "0000815705" "0000429141" "0000908569"