### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TRRAP) # 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}}" "TRRAP" "transformation/transcription domain-associated protein" "7" "q21.2-q22.1" "unknown" "NG_030010.1" "UD_136019751321" "" "https://www.LOVD.nl/TRRAP" "" "1" "12347" "8295" "603015" "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/TRRAP_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-03-09 10:32:43" "00000" "2025-05-05 21:14:00" ## 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}}" "00025389" "TRRAP" "transcript variant 1" "001" "NM_001244580.1" "" "NP_001231509.1" "" "" "" "-209" "12468" "11580" "98476113" "98610866" "00006" "2019-03-09 09:04:35" "" "" ## 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" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "06768" "DEDDFA" "Developmental delay with or without dysmorphic facies and autism" "AD" "618454" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06774" "DFNA75" "?Deafness, autosomal dominant 75" "AD" "618778" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "TRRAP" "00139" "TRRAP" "06768" "TRRAP" "06774" ## Individuals ## Do not remove or alter this header ## ## Count = 37 "{{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}}" "00226378" "" "" "" "1" "" "00006" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "F" "" "United States" "" "0" "" "" "white, Somalia" "Pat1" "00226379" "" "" "" "1" "" "00006" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "F" "" "United States" "" "0" "" "" "mixed" "Pat2" "00226380" "" "" "" "1" "" "00006" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "F" "" "United States" "" "0" "" "" "white France, Germany, Czech" "Pat3" "00226381" "" "" "" "1" "" "00006" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "F" "" "France" "" "0" "" "" "Bengali" "Pat4" "00226382" "" "" "" "1" "" "00006" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "F" "" "Norway" "" "0" "" "" "white" "Pat5" "00226383" "" "" "" "1" "" "00006" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "F" "" "France" "" "0" "" "" "white" "Pat6" "00226384" "" "" "" "1" "" "00006" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "F" "" "United States" "" "0" "" "" "white" "Pat7" "00226385" "" "" "" "1" "" "00006" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "F" "" "United States" "" "0" "" "" "" "Pat8" "00226386" "" "" "" "1" "" "00006" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "M" "" "Canada" "" "0" "" "" "white, Asia south-east" "Pat9" "00226387" "" "" "" "1" "" "00006" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "M" "" "France" "" "0" "" "" "" "Pat10" "00226388" "" "" "" "1" "" "00006" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "M" "" "United States" "" "0" "" "" "white Germany, Scotland, Ireland, Philippines" "Pat11" "00226389" "" "" "" "1" "" "00006" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Pat12" "00226390" "" "" "" "1" "" "00006" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "F" "" "Canada" "" "0" "" "" "England;Netherlands" "Pat13" "00226391" "" "" "" "1" "" "00006" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "M" "" "Mexico" "" "0" "" "" "Hispanic" "Pat14" "00226392" "" "" "" "1" "" "00006" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "M" "" "United States" "" "0" "" "" "white, European" "Pat15" "00226393" "" "" "" "1" "" "00006" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "F" "" "United States" "" "0" "" "" "white" "Pat16" "00226394" "" "" "" "1" "" "00006" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "M" "" "United States" "" "0" "" "" "white" "Pat17" "00226395" "" "" "" "1" "" "00006" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Pat18" "00226396" "" "" "" "1" "" "00006" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Pat19" "00226397" "" "" "" "1" "" "00006" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "F" "" "Sweden" "" "0" "" "" "white" "Pat20" "00226398" "" "" "" "1" "" "00006" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "M" "" "Netherlands" "" "0" "" "" "white" "Pat21" "00226399" "" "" "" "2" "" "00006" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "2-generation family, affcted sisters" "F" "" "United States" "" "0" "" "" "Ireland;Germany" "Pat22" "00226400" "" "" "00226399" "1" "" "00006" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "sister" "F" "" "United States" "" "0" "" "" "Ireland;Germany" "Pat23" "00226401" "" "" "" "1" "" "00006" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "F" "" "United States" "" "0" "" "" "white" "Pat24" "00226402" "" "" "" "1" "" "00006" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "M" "" "United States" "" "0" "" "" "white" "Pat25" "00226403" "" "" "" "1" "" "00006" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "M" "" "United States" "" "0" "" "" "white" "Pat26" "00226404" "" "" "" "1" "" "00006" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "M" "" "Netherlands" "" "0" "" "" "white" "Pat27" "00226405" "" "" "" "1" "" "00006" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "F" "" "United States" "" "0" "" "" "white" "Pat28" "00226406" "" "" "" "1" "" "00006" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Pat29" "00226407" "" "" "" "1" "" "00006" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "M" "" "United States" "" "0" "" "" "white" "Pat30" "00226408" "" "" "" "1" "" "00006" "{PMID:Mavros 2018:30424743}" "" "M" "no" "United States" "" "0" "" "" "" "PAt1" "00402812" "" "" "" "1" "" "04221" "PM1, PM2, PM5, PP3, PP5" "2-generation family, 1 affected, unaffected non carrier parents" "M" "no" "Mexico" "" "0" "" "none" "" "Pat3" "00428669" "" "" "" "2" "" "04147" "{PMID:Wonkam 2022:35440622}" "2-generation family, 2 affected brothers" "M" "no" "Ghana" "" "" "" "" "Africa" "Fam27" "00431542" "" "" "" "1" "" "01164" "" "" "M" "likely" "Iraq" "" "0" "" "" "Kurdish" "213556" "00441507" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "" "" "" "France" "" "0" "" "" "" "PAR094" "00441535" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "" "" "" "France" "" "0" "" "" "" "5536" "00441544" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "control" "" "" "France" "" "0" "" "" "" "CIC4764" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 37 "{{individualid}}" "{{diseaseid}}" "00226378" "00139" "00226379" "00139" "00226380" "00139" "00226381" "00139" "00226382" "00139" "00226383" "00139" "00226384" "00139" "00226385" "00139" "00226386" "00139" "00226387" "00139" "00226388" "00139" "00226389" "00139" "00226390" "00139" "00226391" "00139" "00226392" "00139" "00226393" "00139" "00226394" "00139" "00226395" "00139" "00226396" "00139" "00226397" "00139" "00226398" "00139" "00226399" "00139" "00226400" "00139" "00226401" "00139" "00226402" "00139" "00226403" "00139" "00226404" "00139" "00226405" "00139" "00226406" "00139" "00226407" "00139" "00226408" "00139" "00402812" "06768" "00428669" "06774" "00431542" "06768" "00441507" "05086" "00441535" "05086" "00441544" "00000" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 05086, 06768, 06774 ## Count = 36 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000171490" "00139" "00226378" "00006" "Isolated (sporadic)" "8y" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000171491" "00139" "00226379" "00006" "Isolated (sporadic)" "34m" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000171492" "00139" "00226380" "00006" "Isolated (sporadic)" "4y" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000171493" "00139" "00226381" "00006" "Isolated (sporadic)" "4y6m" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000171494" "00139" "00226382" "00006" "Isolated (sporadic)" "8y6m" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000171495" "00139" "00226383" "00006" "Isolated (sporadic)" "29y" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000171496" "00139" "00226384" "00006" "Isolated (sporadic)" "1d" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000171497" "00139" "00226385" "00006" "Isolated (sporadic)" "4y" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000171498" "00139" "00226386" "00006" "Isolated (sporadic)" "11y" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000171499" "00139" "00226387" "00006" "Isolated (sporadic)" "4y" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000171500" "00139" "00226388" "00006" "Isolated (sporadic)" "8y" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000171501" "00139" "00226389" "00006" "Isolated (sporadic)" "5y6m" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000171502" "00139" "00226390" "00006" "Isolated (sporadic)" "14y" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000171503" "00139" "00226391" "00006" "Isolated (sporadic)" "12y6m" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000171504" "00139" "00226392" "00006" "Isolated (sporadic)" "12y" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000171505" "00139" "00226393" "00006" "Isolated (sporadic)" "2y" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000171506" "00139" "00226394" "00006" "Isolated (sporadic)" "8y6m" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000171507" "00139" "00226395" "00006" "Isolated (sporadic)" "14y" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000171508" "00139" "00226396" "00006" "Isolated (sporadic)" "8y8m" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000171509" "00139" "00226397" "00006" "Isolated (sporadic)" "10y" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000171510" "00139" "00226398" "00006" "Isolated (sporadic)" "11y" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000171511" "00139" "00226399" "00006" "Familial, autosomal dominant" "24y" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000171512" "00139" "00226400" "00006" "Familial, autosomal dominant" "19y" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000171513" "00139" "00226401" "00006" "Isolated (sporadic)" "22y" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000171514" "00139" "00226402" "00006" "Isolated (sporadic)" "5y6m" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000171515" "00139" "00226403" "00006" "Isolated (sporadic)" "9y6m" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000171516" "00139" "00226404" "00006" "Isolated (sporadic)" "4y2m" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000171517" "00139" "00226405" "00006" "Isolated (sporadic)" "7y" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000171518" "00139" "00226406" "00006" "Isolated (sporadic)" "16y" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000171519" "00139" "00226407" "00006" "Isolated (sporadic)" "9y4m" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000171520" "00139" "00226408" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "intellectual disability" "0000295572" "06768" "00402812" "04221" "Isolated (sporadic)" "02y06m" "iris coloboma, neurodevelopmental delay , hypotonia, seizures, microcephaly, highly arched eyebrow, medial cleft lip and palate, bilateral cryptorchidism." "" "" "medial cleft lip and palate" "" "" "" "" "DEDDFA" "intellectual disability" "0000319574" "06774" "00428669" "04147" "Familial, autosomal dominant" "" "" "" "" "HP:0000399" "" "" "" "" "DFNA75" "Non-syndromic hearing impairment" "0000322120" "06768" "00431542" "01164" "Unknown" "02y" "Global developmental delay, Synophrys, Depressed nasal bridge, Abnormality of the face" "" "" "" "" "" "" "" "" "" "0000330945" "05086" "00441507" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "multiplex family age-related hearing loss" "0000330973" "05086" "00441535" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "simplex/sporadic age-related hearing loss" ## Screenings ## Do not remove or alter this header ## ## Count = 37 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000227466" "00226378" "1" "00006" "00006" "2019-03-09 09:52:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000227467" "00226379" "1" "00006" "00006" "2019-03-09 09:52:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000227468" "00226380" "1" "00006" "00006" "2019-03-09 09:52:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000227469" "00226381" "1" "00006" "00006" "2019-03-09 09:52:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000227470" "00226382" "1" "00006" "00006" "2019-03-09 09:52:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000227471" "00226383" "1" "00006" "00006" "2019-03-09 09:52:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000227472" "00226384" "1" "00006" "00006" "2019-03-09 09:52:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000227473" "00226385" "1" "00006" "00006" "2019-03-09 09:52:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000227474" "00226386" "1" "00006" "00006" "2019-03-09 09:52:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000227475" "00226387" "1" "00006" "00006" "2019-03-09 09:52:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000227476" "00226388" "1" "00006" "00006" "2019-03-09 09:52:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000227477" "00226389" "1" "00006" "00006" "2019-03-09 09:52:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000227478" "00226390" "1" "00006" "00006" "2019-03-09 09:52:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000227479" "00226393" "1" "00006" "00006" "2019-03-09 09:52:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000227480" "00226394" "1" "00006" "00006" "2019-03-09 09:52:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000227481" "00226395" "1" "00006" "00006" "2019-03-09 09:52:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000227482" "00226396" "1" "00006" "00006" "2019-03-09 09:52:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000227483" "00226397" "1" "00006" "00006" "2019-03-09 09:52:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000227484" "00226391" "1" "00006" "00006" "2019-03-09 09:52:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000227485" "00226392" "1" "00006" "00006" "2019-03-09 09:52:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000227486" "00226398" "1" "00006" "00006" "2019-03-09 09:52:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000227487" "00226399" "1" "00006" "00006" "2019-03-09 09:52:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000227488" "00226400" "1" "00006" "00006" "2019-03-09 09:52:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000227489" "00226401" "1" "00006" "00006" "2019-03-09 09:52:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000227490" "00226402" "1" "00006" "00006" "2019-03-09 09:52:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000227491" "00226403" "1" "00006" "00006" "2019-03-09 09:52:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000227492" "00226404" "1" "00006" "00006" "2019-03-09 09:52:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000227493" "00226405" "1" "00006" "00006" "2019-03-09 09:52:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000227494" "00226406" "1" "00006" "00006" "2019-03-09 09:52:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000227495" "00226407" "1" "00006" "00006" "2019-03-09 09:52:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000227496" "00226408" "1" "00006" "00006" "2019-03-09 10:12:07" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000404053" "00402812" "1" "04221" "04221" "2022-02-10 23:16:09" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000430082" "00428669" "1" "04147" "04147" "2023-01-06 13:02:47" "" "" "SEQ;SEQ-NG-I" "DNA" "Blood" "WES" "0000432967" "00431542" "1" "01164" "01164" "2023-02-14 15:49:30" "" "" "SEQ-NG-I" "DNA" "" "" "0000442993" "00441507" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443021" "00441535" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443030" "00441544" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 32 "{{screeningid}}" "{{geneid}}" "0000227466" "TRRAP" "0000227467" "TRRAP" "0000227468" "TRRAP" "0000227469" "TRRAP" "0000227470" "TRRAP" "0000227471" "TRRAP" "0000227472" "TRRAP" "0000227473" "TRRAP" "0000227474" "TRRAP" "0000227475" "TRRAP" "0000227476" "TRRAP" "0000227477" "TRRAP" "0000227478" "TRRAP" "0000227479" "TRRAP" "0000227480" "TRRAP" "0000227481" "TRRAP" "0000227482" "TRRAP" "0000227483" "TRRAP" "0000227484" "TRRAP" "0000227485" "TRRAP" "0000227486" "TRRAP" "0000227487" "TRRAP" "0000227488" "TRRAP" "0000227489" "TRRAP" "0000227490" "TRRAP" "0000227491" "TRRAP" "0000227492" "TRRAP" "0000227493" "TRRAP" "0000227494" "TRRAP" "0000227495" "TRRAP" "0000227496" "TRRAP" "0000432967" "TRRAP" ## 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 = 143 "{{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}}" "0000256294" "0" "50" "7" "98529049" "98529049" "subst" "4.06719E-6" "01943" "TRRAP_000004" "g.98529049A>G" "" "" "" "TRRAP(NM_001244580.1):c.3613A>G (p.M1205V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98931426A>G" "" "VUS" "" "0000317155" "0" "30" "7" "98507897" "98507897" "subst" "5.59477E-5" "01943" "TRRAP_000002" "g.98507897C>T" "" "" "" "TRRAP(NM_001244580.1):c.1569C>T (p.P523=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98910274C>T" "" "likely benign" "" "0000317156" "0" "30" "7" "98546191" "98546191" "subst" "0.000125886" "01943" "TRRAP_000005" "g.98546191G>A" "" "" "" "TRRAP(NM_001244580.1):c.4650G>A (p.A1550=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98948568G>A" "" "likely benign" "" "0000467305" "0" "90" "7" "98515093" "98515093" "subst" "0" "00006" "TRRAP_000007" "g.98515093C>T" "" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "" "" "De novo" "" "" "0" "" "" "g.98917470C>T" "" "pathogenic (dominant)" "" "0000467306" "0" "90" "7" "98515260" "98515260" "subst" "0" "00006" "TRRAP_000008" "g.98515260C>G" "" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "" "" "De novo" "" "" "0" "" "" "g.98917637C>G" "" "pathogenic (dominant)" "" "0000467307" "0" "90" "7" "98519431" "98519431" "subst" "0" "00006" "TRRAP_000009" "g.98519431G>T" "" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "" "" "De novo" "" "" "0" "" "" "g.98921808G>T" "" "pathogenic (dominant)" "" "0000467308" "0" "90" "7" "98524907" "98524907" "subst" "0" "00006" "TRRAP_000016" "g.98524907T>G" "" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "" "" "De novo" "" "" "0" "" "" "g.98927284T>G" "" "pathogenic (dominant)" "" "0000467309" "0" "90" "7" "98524918" "98524918" "subst" "0" "00006" "TRRAP_000017" "g.98524918G>A" "" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "" "" "De novo" "" "" "0" "" "" "g.98927295G>A" "" "pathogenic (dominant)" "" "0000467310" "0" "90" "7" "98524925" "98524925" "subst" "0" "00006" "TRRAP_000012" "g.98524925C>A" "" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "" "" "De novo" "" "" "0" "" "" "g.98927302C>A" "" "pathogenic (dominant)" "" "0000467311" "0" "90" "7" "98524941" "98524941" "subst" "0" "00006" "TRRAP_000013" "g.98524941G>A" "" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "" "" "De novo" "" "" "0" "" "" "g.98927318G>A" "" "pathogenic (dominant)" "" "0000467312" "0" "90" "7" "98524941" "98524941" "subst" "0" "00006" "TRRAP_000013" "g.98524941G>A" "" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "" "" "De novo" "" "" "0" "" "" "g.98927318G>A" "" "pathogenic (dominant)" "" "0000467313" "0" "90" "7" "98524941" "98524941" "subst" "0" "00006" "TRRAP_000013" "g.98524941G>A" "" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "" "" "De novo" "" "" "0" "" "" "g.98927318G>A" "" "pathogenic (dominant)" "" "0000467314" "0" "90" "7" "98524941" "98524941" "subst" "0" "00006" "TRRAP_000013" "g.98524941G>A" "" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "" "" "De novo" "" "" "0" "" "" "g.98927318G>A" "" "pathogenic (dominant)" "" "0000467315" "0" "90" "7" "98524941" "98524941" "subst" "0" "00006" "TRRAP_000013" "g.98524941G>A" "" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "" "" "De novo" "" "" "0" "" "" "g.98927318G>A" "" "pathogenic (dominant)" "" "0000467316" "0" "90" "7" "98527747" "98527747" "subst" "0" "00006" "TRRAP_000018" "g.98527747A>G" "" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "" "" "De novo" "" "" "0" "" "" "g.98930124A>G" "" "pathogenic (dominant)" "" "0000467317" "0" "90" "7" "98527752" "98527752" "subst" "0" "00006" "TRRAP_000014" "g.98527752G>A" "" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "" "" "De novo" "" "" "0" "" "" "g.98930129G>A" "" "pathogenic (dominant)" "" "0000467318" "0" "90" "7" "98527752" "98527752" "subst" "0" "00006" "TRRAP_000014" "g.98527752G>A" "" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "" "" "De novo" "" "" "0" "" "" "g.98930129G>A" "" "pathogenic (dominant)" "" "0000467319" "0" "90" "7" "98527767" "98527767" "subst" "0" "00006" "TRRAP_000019" "g.98527767G>T" "" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "" "" "De novo" "" "" "0" "" "" "g.98930144G>T" "" "pathogenic (dominant)" "" "0000467320" "0" "90" "7" "98528337" "98528337" "subst" "0" "00006" "TRRAP_000020" "g.98528337G>A" "" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "" "" "De novo" "" "" "0" "" "" "g.98930714G>A" "" "pathogenic (dominant)" "" "0000467321" "0" "90" "7" "98550922" "98550922" "subst" "0" "00006" "TRRAP_000021" "g.98550922C>T" "" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "" "" "De novo" "" "" "0" "" "" "g.98953299C>T" "" "pathogenic (dominant)" "" "0000467322" "0" "90" "7" "98550943" "98550943" "subst" "0" "00006" "TRRAP_000023" "g.98550943T>A" "" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "" "" "De novo" "" "" "0" "" "" "g.98953320T>A" "" "pathogenic (dominant)" "" "0000467323" "0" "90" "7" "98550945" "98550945" "subst" "0" "00006" "TRRAP_000024" "g.98550945G>T" "" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "" "" "De novo" "" "" "0" "" "" "g.98953322G>T" "" "pathogenic (dominant)" "" "0000467324" "0" "90" "7" "98550994" "98550994" "subst" "0" "00006" "TRRAP_000015" "g.98550994G>A" "" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "" "" "De novo" "" "" "0" "" "" "g.98953371G>A" "" "pathogenic (dominant)" "" "0000467325" "0" "90" "7" "98550994" "98550994" "subst" "0" "00006" "TRRAP_000015" "g.98550994G>A" "" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "" "" "De novo" "" "" "0" "" "" "g.98953371G>A" "" "pathogenic (dominant)" "" "0000467326" "0" "90" "7" "98552806" "98552806" "subst" "0" "00006" "TRRAP_000029" "g.98552806C>T" "" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "" "somatic mosaicism mother" "Germline" "yes" "" "0" "" "" "g.98955183C>T" "" "pathogenic (dominant)" "" "0000467327" "0" "90" "7" "98552806" "98552806" "subst" "0" "00006" "TRRAP_000029" "g.98552806C>T" "" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "" "somatic mosaicism mother" "Germline" "yes" "" "0" "" "" "g.98955183C>T" "" "pathogenic (dominant)" "" "0000467328" "0" "90" "7" "98609133" "98609133" "subst" "0" "00006" "TRRAP_000027" "g.98609133G>A" "" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "" "" "De novo" "" "" "0" "" "" "g.99011510G>A" "" "pathogenic (dominant)" "" "0000467329" "0" "90" "7" "98506430" "98506430" "subst" "0" "00006" "TRRAP_000010" "g.98506430G>A" "" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "" "" "De novo" "" "" "0" "" "" "g.98908807G>A" "" "pathogenic (dominant)" "" "0000467330" "0" "90" "7" "98515255" "98515255" "subst" "0" "00006" "TRRAP_000011" "g.98515255G>A" "" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.98917632G>A" "" "pathogenic (dominant)" "" "0000467331" "0" "90" "7" "98540632" "98540632" "subst" "0" "00006" "TRRAP_000022" "g.98540632G>A" "" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "" "" "De novo" "" "" "0" "" "" "g.98943009G>A" "" "pathogenic (dominant)" "" "0000467332" "0" "90" "7" "98557060" "98557060" "subst" "0" "00006" "TRRAP_000025" "g.98557060T>C" "" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "" "" "De novo" "" "" "0" "" "" "g.98959437T>C" "" "pathogenic (dominant)" "" "0000467333" "0" "90" "7" "98569447" "98569447" "subst" "0" "00006" "TRRAP_000026" "g.98569447C>G" "" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "" "" "De novo" "" "" "0" "" "" "g.98971824C>G" "" "pathogenic (dominant)" "" "0000467334" "0" "90" "7" "98609859" "98609859" "subst" "4.06382E-6" "00006" "TRRAP_000028" "g.98609859C>T" "" "{PMID:Cogne 2019:30827496}, {DOI:Cogne 2019:10.1016/j.ajhg.2019.01.010}" "" "" "" "De novo" "" "" "0" "" "" "g.99012236C>T" "" "pathogenic (dominant)" "" "0000467335" "0" "90" "7" "98553863" "98553863" "subst" "0" "00006" "TRRAP_000030" "g.98553863G>A" "" "{PMID:Mavros 2018:30424743}" "" "5957G>A" "" "De novo" "" "" "0" "" "" "g.98956240G>A" "" "pathogenic (dominant)" "" "0000533160" "0" "30" "7" "98479655" "98479655" "subst" "0.00229748" "01804" "TRRAP_000031" "g.98479655C>T" "" "" "" "TRRAP(NM_001375524.1):c.150+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98882032C>T" "" "likely benign" "" "0000533163" "0" "50" "7" "98550994" "98550994" "subst" "0" "02327" "TRRAP_000015" "g.98550994G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98953371G>A" "" "VUS" "" "0000533164" "0" "30" "7" "98554141" "98554141" "subst" "3.25219E-5" "01943" "TRRAP_000034" "g.98554141C>T" "" "" "" "TRRAP(NM_001244580.1):c.6195C>T (p.T2065=), TRRAP(NM_003496.4):c.6141C>T (p.T2047=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98956518C>T" "" "likely benign" "" "0000533166" "0" "30" "7" "98574675" "98574675" "subst" "8.1217E-5" "01943" "TRRAP_000036" "g.98574675C>T" "" "" "" "TRRAP(NM_001244580.1):c.8340C>T (p.Y2780=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98977052C>T" "" "likely benign" "" "0000611342" "0" "50" "7" "98478778" "98478778" "subst" "0" "02327" "TRRAP_000038" "g.98478778C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98881155C>T" "" "VUS" "" "0000611343" "0" "70" "7" "98515126" "98515126" "subst" "0" "02327" "TRRAP_000040" "g.98515126C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98917503C>T" "" "likely pathogenic" "" "0000621961" "0" "30" "7" "98487991" "98487991" "subst" "7.5822E-5" "02325" "TRRAP_000039" "g.98487991C>T" "" "" "" "TRRAP(NM_001244580.2):c.184C>T (p.L62=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98890368C>T" "" "likely benign" "" "0000655941" "0" "70" "7" "98555698" "98555698" "subst" "0" "02327" "TRRAP_000041" "g.98555698T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98958075T>C" "" "likely pathogenic" "" "0000655942" "0" "50" "7" "98592220" "98592220" "subst" "0" "02327" "TRRAP_000042" "g.98592220A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98994597A>G" "" "VUS" "" "0000678232" "0" "30" "7" "98581985" "98581985" "subst" "0.000145827" "02325" "TRRAP_000043" "g.98581985C>A" "" "" "" "TRRAP(NM_001244580.2):c.9300+4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678233" "0" "50" "7" "98609706" "98609706" "subst" "1.21854E-5" "02325" "TRRAP_000044" "g.98609706C>A" "" "" "" "TRRAP(NM_001244580.2):c.11308C>A (p.L3770M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690113" "0" "50" "7" "98515223" "98515223" "subst" "0" "02327" "TRRAP_000045" "g.98515223C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721626" "0" "70" "7" "98528347" "98528347" "subst" "0" "02329" "TRRAP_000046" "g.98528347T>G" "" "" "" "TRRAP(NM_001244580.2):c.3485T>G (p.V1162G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000721627" "0" "50" "7" "98547307" "98547307" "subst" "4.08654E-6" "02327" "TRRAP_000047" "g.98547307G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721628" "0" "50" "7" "98567763" "98567763" "subst" "0" "02325" "TRRAP_000048" "g.98567763C>T" "" "" "" "TRRAP(NM_003496.4):c.7466C>T (p.T2489I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721629" "0" "50" "7" "98567852" "98567852" "subst" "1.22285E-5" "02325" "TRRAP_000049" "g.98567852G>A" "" "" "" "TRRAP(NM_003496.4):c.7555G>A (p.A2519T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803316" "0" "50" "7" "98490140" "98490140" "subst" "4.13705E-6" "02327" "TRRAP_000050" "g.98490140C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803317" "0" "50" "7" "98581949" "98581949" "subst" "4.3017E-6" "02325" "TRRAP_000051" "g.98581949G>T" "" "" "" "TRRAP(NM_003496.4):c.9181G>T (p.A3061S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803318" "0" "50" "7" "98591280" "98591280" "subst" "0" "02327" "TRRAP_000052" "g.98591280G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803319" "0" "50" "7" "98609946" "98609946" "subst" "0" "02329" "TRRAP_000053" "g.98609946C>T" "" "" "" "TRRAP(NM_001244580.1):c.11548C>T (p.R3850C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000839638" "0" "90" "7" "98524941" "98524941" "subst" "0" "04221" "TRRAP_000013" "g.98524941G>A" "" "{PMID:Reyna-Fabian 2024:38909058}" "HphI+, Tsp45I+, Cac8I-" "" "ACMG PM1, PM2, PM5, PP3, PP5; de novo in patient" "De novo" "-" "rs1562945106" "0" "" "" "g.98927318G>A" "{CV:RCV000785654.1}" "likely pathogenic (dominant)" "ACMG" "0000851733" "0" "30" "7" "98528252" "98528252" "subst" "0.00033313" "02325" "TRRAP_000054" "g.98528252C>A" "" "" "" "TRRAP(NM_003496.4):c.3394-4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860980" "0" "50" "7" "98557021" "98557021" "subst" "0" "02327" "TRRAP_000055" "g.98557021T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888058" "0" "50" "7" "98506574" "98506574" "subst" "0" "02327" "TRRAP_000056" "g.98506574C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888059" "0" "50" "7" "98522768" "98522768" "subst" "4.06484E-6" "02327" "TRRAP_000057" "g.98522768G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888060" "0" "50" "7" "98528347" "98528347" "subst" "0" "02327" "TRRAP_000046" "g.98528347T>G" "" "" "" "TRRAP(NM_001244580.2):c.3485T>G (p.V1162G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888061" "0" "50" "7" "98533274" "98533274" "subst" "8.13226E-6" "02325" "TRRAP_000058" "g.98533274G>A" "" "" "" "TRRAP(NM_001244580.1):c.4087G>A (p.(Val1363Ile)), TRRAP(NM_003496.4):c.4087G>A (p.V1363I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888062" "0" "50" "7" "98547131" "98547131" "subst" "0" "02325" "TRRAP_000059" "g.98547131C>T" "" "" "" "TRRAP(NM_003496.4):c.4805C>T (p.A1602V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888063" "0" "50" "7" "98562285" "98562285" "subst" "0" "02325" "TRRAP_000060" "g.98562285A>G" "" "" "" "TRRAP(NM_003496.4):c.6788A>G (p.N2263S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000909811" "0" "90" "7" "98506391" "98506391" "subst" "0" "04147" "TRRAP_000061" "g.98506391G>A" "" "{PMID:Wonkam 2022:35440622}" "" "" "Both parents not tested" "Germline/De novo (untested)" "yes" "" "" "" "" "g.98908768G>A" "" "pathogenic (dominant)" "ACMG" "0000912836" "0" "50" "7" "98529122" "98529122" "subst" "0" "02327" "TRRAP_000062" "g.98529122A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912837" "0" "50" "7" "98545961" "98545961" "subst" "0" "02329" "TRRAP_000063" "g.98545961G>A" "" "" "" "TRRAP(NM_001244580.2):c.4645G>A (p.E1549K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912838" "0" "30" "7" "98547151" "98547151" "subst" "7.64929E-5" "02325" "TRRAP_000064" "g.98547151G>A" "" "" "" "TRRAP(NM_003496.4):c.4825G>A (p.G1609S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912839" "0" "50" "7" "98557060" "98557060" "subst" "3.24923E-5" "02325" "TRRAP_000065" "g.98557060T>G" "" "" "" "TRRAP(NM_003496.4):c.6361T>G (p.W2121G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912840" "0" "50" "7" "98567804" "98567804" "subst" "0" "02327" "TRRAP_000066" "g.98567804A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912841" "0" "50" "7" "98573821" "98573821" "subst" "2.43716E-5" "02325" "TRRAP_000067" "g.98573821C>T" "" "" "" "TRRAP(NM_003496.4):c.7814C>T (p.T2605M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912842" "0" "50" "7" "98579570" "98579570" "subst" "0" "02329" "TRRAP_000068" "g.98579570C>T" "" "" "" "TRRAP(NM_003496.4):c.8738C>T (p.T2913M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912843" "0" "50" "7" "98581716" "98581716" "subst" "4.32672E-6" "02325" "TRRAP_000069" "g.98581716C>T" "" "" "" "TRRAP(NM_003496.4):c.8948C>T (p.A2983V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000918589" "0" "50" "7" "98551037" "98551037" "subst" "0" "01164" "TRRAP_000070" "g.98551037A>C" "" "" "" "NM_001375524.1:c.5711A>C; p.(His1904Pro)" "ACMG: PM2_SUP, PP2, BP4" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000924793" "0" "50" "7" "98563502" "98563502" "subst" "2.0314E-5" "02325" "TRRAP_000071" "g.98563502C>G" "" "" "" "TRRAP(NM_003496.4):c.7085C>G (p.P2362R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924794" "0" "50" "7" "98573773" "98573773" "subst" "4.06775E-6" "02325" "TRRAP_000072" "g.98573773C>G" "" "" "" "TRRAP(NM_003496.4):c.7766C>G (p.T2589S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929399" "0" "30" "7" "98554141" "98554141" "subst" "3.25219E-5" "02325" "TRRAP_000034" "g.98554141C>T" "" "" "" "TRRAP(NM_001244580.1):c.6195C>T (p.T2065=), TRRAP(NM_003496.4):c.6141C>T (p.T2047=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000944352" "0" "70" "7" "98509723" "98509723" "subst" "0" "00006" "TRRAP_000074" "g.98509723C>T" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.98912100C>T" "" "likely pathogenic (dominant)" "" "0000944380" "0" "70" "7" "98550825" "98550825" "subst" "4.90284E-5" "00006" "TRRAP_000075" "g.98550825C>A" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.98953202C>A" "" "likely pathogenic (dominant)" "" "0000944450" "0" "90" "7" "98495474" "98495474" "subst" "0" "00006" "TRRAP_000073" "g.98495474C>A" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline" "" "" "0" "" "" "g.98897851C>A" "" "VUS" "" "0000948974" "0" "30" "7" "98547352" "98547352" "subst" "9.38109E-5" "02325" "TRRAP_000076" "g.98547352C>A" "" "" "" "TRRAP(NM_003496.4):c.4948C>A (p.R1650=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948975" "0" "50" "7" "98552729" "98552730" "del" "0" "02325" "TRRAP_000077" "g.98552729_98552730del" "" "" "" "TRRAP(NM_003496.4):c.5664_5665delTA (p.H1888Qfs*105)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948976" "0" "50" "7" "98574218" "98574218" "subst" "0" "02325" "TRRAP_000078" "g.98574218C>T" "" "" "" "TRRAP(NM_003496.4):c.7997C>T (p.P2666L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948977" "0" "50" "7" "98589850" "98589850" "subst" "0" "02325" "TRRAP_000079" "g.98589850G>A" "" "" "" "TRRAP(NM_003496.4):c.9772G>A (p.D3258N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964727" "0" "10" "7" "98506664" "98506664" "dup" "0" "02329" "TRRAP_000080" "g.98506664dup" "" "" "" "TRRAP(NM_001244580.2):c.1350+79dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000964731" "0" "50" "7" "98540632" "98540632" "subst" "0" "02327" "TRRAP_000022" "g.98540632G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977920" "0" "50" "7" "98478852" "98478852" "subst" "0" "01804" "TRRAP_000083" "g.98478852G>C" "" "" "" "TRRAP(NM_001375524.1):c.79G>C (p.(Ala27Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977921" "0" "30" "7" "98497398" "98497398" "subst" "1.62528E-5" "01804" "TRRAP_000084" "g.98497398G>A" "" "" "" "TRRAP(NM_001375524.1):c.800+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977922" "0" "30" "7" "98507898" "98507898" "subst" "0.00226439" "01804" "TRRAP_000085" "g.98507898G>A" "" "" "" "TRRAP(NM_001375524.1):c.1570G>A (p.(Val524Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977923" "0" "30" "7" "98509125" "98509125" "subst" "0" "01804" "TRRAP_000086" "g.98509125A>G" "" "" "" "TRRAP(NM_001375524.1):c.2007+231A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977924" "0" "50" "7" "98515054" "98515054" "subst" "0" "01804" "TRRAP_000087" "g.98515054A>G" "" "" "" "TRRAP(NM_001375524.1):c.2374A>G (p.(Met792Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977925" "0" "30" "7" "98517122" "98517122" "subst" "0" "01804" "TRRAP_000088" "g.98517122G>C" "" "" "" "TRRAP(NM_001375524.1):c.2622+1820G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977926" "0" "50" "7" "98543545" "98543545" "subst" "0" "01804" "TRRAP_000089" "g.98543545T>C" "" "" "" "TRRAP(NM_001375524.1):c.4528-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977927" "0" "30" "7" "98545973" "98545973" "subst" "4.06101E-6" "01804" "TRRAP_000090" "g.98545973A>G" "" "" "" "TRRAP(NM_001375524.1):c.4668+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977928" "0" "30" "7" "98547209" "98547209" "subst" "9.50261E-5" "01804" "TRRAP_000091" "g.98547209C>T" "" "" "" "TRRAP(NM_001375524.1):c.4953+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977929" "0" "30" "7" "98553889" "98553889" "subst" "2.84269E-5" "01804" "TRRAP_000092" "g.98553889G>A" "" "" "" "TRRAP(NM_001375524.1):c.6058G>A (p.(Val2020Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977930" "0" "50" "7" "98557072" "98557072" "subst" "4.06213E-6" "01804" "TRRAP_000093" "g.98557072G>A" "" "" "" "TRRAP(NM_001375524.1):c.6448G>A (p.(Glu2150Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977931" "0" "30" "7" "98567747" "98567747" "subst" "6.51917E-5" "01804" "TRRAP_000094" "g.98567747G>A" "" "" "" "TRRAP(NM_001375524.1):c.7525G>A (p.(Val2509Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977932" "0" "30" "7" "98574659" "98574659" "subst" "1.62429E-5" "02325" "TRRAP_000095" "g.98574659C>T" "" "" "" "TRRAP(NM_003496.4):c.8270C>T (p.A2757V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977933" "0" "50" "7" "98608995" "98608995" "subst" "0" "02327" "TRRAP_000096" "g.98608995G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977934" "0" "30" "7" "98609085" "98609085" "subst" "3.6545E-5" "01804" "TRRAP_000097" "g.98609085C>T" "" "" "" "TRRAP(NM_001375524.1):c.11264C>T (p.(Thr3755Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977935" "0" "30" "7" "98609161" "98609161" "subst" "8.19101E-6" "01804" "TRRAP_000098" "g.98609161G>A" "" "" "" "TRRAP(NM_001375524.1):c.11337+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977936" "0" "50" "7" "98609972" "98609972" "subst" "0" "02329" "TRRAP_000099" "g.98609972G>A" "" "" "" "TRRAP(NM_003496.4):c.11487G>A (p.W3829*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996774" "0" "50" "7" "98490062" "98490062" "subst" "1.64434E-5" "01804" "TRRAP_000100" "g.98490062G>A" "" "" "" "TRRAP(NM_001244580.1):c.277G>A (p.(Val93Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996775" "0" "30" "7" "98491442" "98491442" "subst" "3.26121E-5" "01804" "TRRAP_000101" "g.98491442C>A" "" "" "" "TRRAP(NM_001244580.1):c.388C>A (p.(Leu130Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996776" "0" "90" "7" "98506415" "98506415" "subst" "0" "01804" "TRRAP_000102" "g.98506415G>A" "" "" "" "TRRAP(NM_001244580.1):c.1180G>A (p.(Asp394Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000996777" "0" "50" "7" "98506464" "98506464" "subst" "0" "02329" "TRRAP_000103" "g.98506464C>A" "" "" "" "TRRAP(NM_001375524.1):c.1229C>A (p.S410Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996778" "0" "50" "7" "98506526" "98506526" "subst" "0" "01804" "TRRAP_000104" "g.98506526C>T" "" "" "" "TRRAP(NM_001244580.1):c.1291C>T (p.(Arg431Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996779" "0" "30" "7" "98507886" "98507886" "subst" "0" "01804" "TRRAP_000105" "g.98507886A>T" "" "" "" "TRRAP(NM_001244580.1):c.1558A>T (p.(Thr520Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996780" "0" "30" "7" "98508145" "98508145" "subst" "8.93742E-5" "02325" "TRRAP_000106" "g.98508145T>C" "" "" "" "TRRAP(NM_003496.4):c.1727T>C (p.I576T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996781" "0" "30" "7" "98524857" "98524857" "subst" "8.12137E-6" "01804" "TRRAP_000107" "g.98524857C>T" "" "" "" "TRRAP(NM_001244580.1):c.3043C>T (p.(Arg1015Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996782" "0" "30" "7" "98529072" "98529072" "subst" "3.25198E-5" "01804" "TRRAP_000108" "g.98529072G>C" "" "" "" "TRRAP(NM_001244580.1):c.3636G>C (p.(Gln1212His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996783" "0" "30" "7" "98529092" "98529092" "subst" "1.2199E-5" "01804" "TRRAP_000109" "g.98529092C>T" "" "" "" "TRRAP(NM_001244580.1):c.3656C>T (p.(Thr1219Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996784" "0" "50" "7" "98529121" "98529121" "subst" "4.06696E-6" "01804" "TRRAP_000110" "g.98529121G>C" "" "" "" "TRRAP(NM_001244580.1):c.3685G>C (p.(Glu1229Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996785" "0" "50" "7" "98533274" "98533274" "subst" "8.13226E-6" "01804" "TRRAP_000058" "g.98533274G>A" "" "" "" "TRRAP(NM_001244580.1):c.4087G>A (p.(Val1363Ile)), TRRAP(NM_003496.4):c.4087G>A (p.V1363I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996786" "0" "30" "7" "98547353" "98547353" "subst" "2.0399E-5" "01804" "TRRAP_000111" "g.98547353G>A" "" "" "" "TRRAP(NM_001244580.1):c.5003G>A (p.(Arg1668Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996787" "0" "50" "7" "98553764" "98553764" "subst" "2.04982E-5" "01804" "TRRAP_000112" "g.98553764C>T" "" "" "" "TRRAP(NM_001244580.1):c.5917-5C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996788" "0" "30" "7" "98555628" "98555628" "subst" "1.62496E-5" "01804" "TRRAP_000113" "g.98555628C>T" "" "" "" "TRRAP(NM_001244580.1):c.6235C>T (p.(Pro2079Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996789" "0" "10" "7" "98556962" "98556962" "subst" "0.0953548" "02327" "TRRAP_000114" "g.98556962C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000996790" "0" "30" "7" "98560049" "98560049" "subst" "0" "01804" "TRRAP_000115" "g.98560049C>G" "" "" "" "TRRAP(NM_001244580.1):c.6807C>G (p.(Phe2269Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996791" "0" "30" "7" "98565263" "98565263" "subst" "5.27902E-5" "01804" "TRRAP_000116" "g.98565263C>T" "" "" "" "TRRAP(NM_001244580.1):c.7433C>T (p.(Thr2478Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996792" "0" "50" "7" "98567762" "98567762" "subst" "0" "01804" "TRRAP_000117" "g.98567762A>G" "" "" "" "TRRAP(NM_001244580.1):c.7519A>G (p.(Thr2507Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996793" "0" "30" "7" "98574253" "98574253" "subst" "4.06072E-6" "01804" "TRRAP_000118" "g.98574253C>G" "" "" "" "TRRAP(NM_001244580.1):c.8086C>G (p.(Leu2696Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996794" "0" "30" "7" "98575886" "98575886" "subst" "0" "01804" "TRRAP_000119" "g.98575886G>A" "" "" "" "TRRAP(NM_001244580.1):c.8417G>A (p.(Arg2806Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996795" "0" "30" "7" "98575892" "98575892" "subst" "2.84252E-5" "01804" "TRRAP_000120" "g.98575892A>G" "" "" "" "TRRAP(NM_001244580.1):c.8423A>G (p.(Asn2808Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996796" "0" "50" "7" "98579398" "98579398" "subst" "0" "01804" "TRRAP_000121" "g.98579398G>A" "" "" "" "TRRAP(NM_001244580.1):c.8620G>A (p.(Val2874Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996797" "0" "50" "7" "98579459" "98579459" "subst" "1.32356E-5" "01804" "TRRAP_000122" "g.98579459G>C" "" "" "" "TRRAP(NM_001244580.1):c.8681G>C (p.(Cys2894Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996798" "0" "30" "7" "98602969" "98602969" "subst" "2.84759E-5" "01804" "TRRAP_000123" "g.98602969C>A" "" "" "" "TRRAP(NM_001244580.1):c.10709C>A (p.(Thr3570Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996799" "0" "50" "7" "98606150" "98606150" "subst" "4.06865E-5" "01804" "TRRAP_000124" "g.98606150C>T" "" "" "" "TRRAP(NM_001244580.1):c.10862C>T (p.(Thr3621Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996800" "0" "50" "7" "98609829" "98609829" "subst" "0" "01804" "TRRAP_000125" "g.98609829G>A" "" "" "" "TRRAP(NM_001244580.1):c.11431G>A (p.(Val3811Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025457" "0" "50" "7" "98547194" "98547194" "subst" "0" "02327" "TRRAP_000126" "g.98547194A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025458" "0" "50" "7" "98547364" "98547364" "subst" "4.08323E-6" "02325" "TRRAP_000127" "g.98547364G>A" "" "" "" "TRRAP(NM_003496.4):c.4960G>A (p.V1654M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025459" "0" "50" "7" "98559094" "98559094" "subst" "0" "02329" "TRRAP_000128" "g.98559094C>T" "" "" "" "TRRAP(NM_001375524.1):c.6700C>T (p.P2234S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025460" "0" "50" "7" "98609141" "98609141" "subst" "0" "02327" "TRRAP_000129" "g.98609141G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036616" "0" "30" "7" "98478708" "98478708" "subst" "0" "01804" "TRRAP_000130" "g.98478708C>T" "" "" "" "TRRAP(NM_001375524.1):c.-61-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036617" "0" "30" "7" "98485371" "98485372" "ins" "0" "01804" "TRRAP_000131" "g.98485371_98485372insGA" "" "" "" "TRRAP(NM_001375524.1):c.151-2587_151-2586insGA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036618" "0" "30" "7" "98490412" "98490412" "subst" "0" "01804" "TRRAP_000132" "g.98490412G>T" "" "" "" "TRRAP(NM_001375524.1):c.366+261G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036619" "0" "50" "7" "98507849" "98507866" "del" "0" "01804" "TRRAP_000133" "g.98507849_98507866del" "" "" "" "TRRAP(NM_001375524.1):c.1521_1538del (p.(Pro510_Pro515del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036620" "0" "30" "7" "98513818" "98513818" "subst" "0" "01804" "TRRAP_000134" "g.98513818A>G" "" "" "" "TRRAP(NM_001375524.1):c.2365+307A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036621" "0" "30" "7" "98516910" "98516910" "subst" "0" "01804" "TRRAP_000135" "g.98516910G>A" "" "" "" "TRRAP(NM_001375524.1):c.2622+1608G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036622" "0" "30" "7" "98545891" "98545891" "subst" "0.00175015" "01804" "TRRAP_000136" "g.98545891G>A" "" "" "" "TRRAP(NM_001375524.1):c.4596G>A (p.(Pro1532=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036623" "0" "50" "7" "98553896" "98553896" "subst" "1.21827E-5" "01804" "TRRAP_000137" "g.98553896A>G" "" "" "" "TRRAP(NM_001375524.1):c.6065A>G (p.(Lys2022Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036624" "0" "30" "7" "98557119" "98557122" "del" "0" "01804" "TRRAP_000138" "g.98557119_98557122del" "" "" "" "TRRAP(NM_001375524.1):c.6489+6_6489+9del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036625" "0" "50" "7" "98581845" "98581845" "subst" "4.06108E-5" "01804" "TRRAP_000139" "g.98581845A>G" "" "" "" "TRRAP(NM_001375524.1):c.9152A>G (p.(Asn3051Ser))" "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 TRRAP ## Count = 143 "{{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}}" "0000256294" "00025389" "50" "3613" "0" "3613" "0" "c.3613A>G" "r.(?)" "p.(Met1205Val)" "" "0000317155" "00025389" "30" "1569" "0" "1569" "0" "c.1569C>T" "r.(?)" "p.(Pro523=)" "" "0000317156" "00025389" "30" "4650" "0" "4650" "0" "c.4650G>A" "r.(?)" "p.(Ala1550=)" "" "0000467305" "00025389" "90" "2413" "0" "2413" "0" "c.2413C>T" "r.(?)" "p.(Leu805Phe)" "" "0000467306" "00025389" "90" "2580" "0" "2580" "0" "c.2580C>G" "r.(?)" "p.(Phe860Leu)" "" "0000467307" "00025389" "90" "2678" "0" "2678" "0" "c.2678G>T" "r.(?)" "p.(Arg893Leu)" "" "0000467308" "00025389" "90" "3093" "0" "3093" "0" "c.3093T>G" "r.(?)" "p.(Ile1031Met)" "" "0000467309" "00025389" "90" "3104" "0" "3104" "0" "c.3104G>A" "r.(?)" "p.(Arg1035Gln)" "" "0000467310" "00025389" "90" "3111" "0" "3111" "0" "c.3111C>A" "r.(?)" "p.(Ser1037Arg)" "" "0000467311" "00025389" "90" "3127" "0" "3127" "0" "c.3127G>A" "r.(?)" "p.(Ala1043Thr)" "" "0000467312" "00025389" "90" "3127" "0" "3127" "0" "c.3127G>A" "r.(?)" "p.(Ala1043Thr)" "" "0000467313" "00025389" "90" "3127" "0" "3127" "0" "c.3127G>A" "r.(?)" "p.(Ala1043Thr)" "" "0000467314" "00025389" "90" "3127" "0" "3127" "0" "c.3127G>A" "r.(?)" "p.(Ala1043Thr)" "" "0000467315" "00025389" "90" "3127" "0" "3127" "0" "c.3127G>A" "r.(?)" "p.(Ala1043Thr)" "" "0000467316" "00025389" "90" "3311" "0" "3311" "0" "c.3311A>G" "r.(?)" "p.(Glu1104Gly)" "" "0000467317" "00025389" "90" "3316" "0" "3316" "0" "c.3316G>A" "r.(?)" "p.(Glu1106Lys)" "" "0000467318" "00025389" "90" "3316" "0" "3316" "0" "c.3316G>A" "r.(?)" "p.(Glu1106Lys)" "" "0000467319" "00025389" "90" "3331" "0" "3331" "0" "c.3331G>T" "r.(?)" "p.(Gly1111Trp)" "" "0000467320" "00025389" "90" "3475" "0" "3475" "0" "c.3475G>A" "r.(?)" "p.(Gly1159Arg)" "" "0000467321" "00025389" "90" "5575" "0" "5575" "0" "c.5575C>T" "r.(?)" "p.(Arg1859Cys)" "" "0000467322" "00025389" "90" "5596" "0" "5596" "0" "c.5596T>A" "r.(?)" "p.(Trp1866Arg)" "" "0000467323" "00025389" "90" "5598" "0" "5598" "0" "c.5598G>T" "r.(?)" "p.(Trp1866Cys)" "" "0000467324" "00025389" "90" "5647" "0" "5647" "0" "c.5647G>A" "r.(?)" "p.(Gly1883Arg)" "" "0000467325" "00025389" "90" "5647" "0" "5647" "0" "c.5647G>A" "r.(?)" "p.(Gly1883Arg)" "" "0000467326" "00025389" "90" "5795" "0" "5795" "0" "c.5795C>T" "r.(?)" "p.(Pro1932Leu)" "" "0000467327" "00025389" "90" "5795" "0" "5795" "0" "c.5795C>T" "r.(?)" "p.(Pro1932Leu)" "" "0000467328" "00025389" "90" "11270" "0" "11270" "0" "c.11270G>A" "r.(?)" "p.(Arg3757Gln)" "" "0000467329" "00025389" "90" "1195" "0" "1195" "0" "c.1195G>A" "r.(?)" "p.(Val399Ile)" "" "0000467330" "00025389" "90" "2575" "0" "2575" "0" "c.2575G>A" "r.(?)" "p.(Asp859Asn)" "" "0000467331" "00025389" "90" "4465" "0" "4465" "0" "c.4465G>A" "r.(?)" "p.(Asp1489Asn)" "" "0000467332" "00025389" "90" "6415" "0" "6415" "0" "c.6415T>C" "r.(?)" "p.(Trp2139Arg)" "" "0000467333" "00025389" "90" "7697" "0" "7697" "0" "c.7697C>G" "r.(?)" "p.(Ala2566Gly)" "" "0000467334" "00025389" "90" "11461" "0" "11461" "0" "c.11461C>T" "r.(?)" "p.(Arg3821Cys)" "" "0000467335" "00025389" "90" "6011" "0" "6011" "0" "c.6011G>A" "r.(?)" "p.(Arg2004Gln)" "" "0000533160" "00025389" "30" "150" "8" "150" "8" "c.150+8C>T" "r.(=)" "p.(=)" "" "0000533163" "00025389" "50" "5647" "0" "5647" "0" "c.5647G>A" "r.(?)" "p.(Gly1883Arg)" "" "0000533164" "00025389" "30" "6195" "0" "6195" "0" "c.6195C>T" "r.(?)" "p.(Thr2065=)" "" "0000533166" "00025389" "30" "8340" "0" "8340" "0" "c.8340C>T" "r.(?)" "p.(Tyr2780=)" "" "0000611342" "00025389" "50" "5" "0" "5" "0" "c.5C>T" "r.(?)" "p.(Ala2Val)" "" "0000611343" "00025389" "70" "2446" "0" "2446" "0" "c.2446C>T" "r.(?)" "p.(Arg816Trp)" "" "0000621961" "00025389" "30" "184" "0" "184" "0" "c.184C>T" "r.(?)" "p.(Leu62=)" "" "0000655941" "00025389" "70" "6305" "0" "6305" "0" "c.6305T>C" "r.(?)" "p.(Ile2102Thr)" "" "0000655942" "00025389" "50" "10016" "0" "10016" "0" "c.10016A>G" "r.(?)" "p.(Gln3339Arg)" "" "0000678232" "00025389" "30" "9300" "4" "9300" "4" "c.9300+4C>A" "r.spl?" "p.?" "" "0000678233" "00025389" "50" "11308" "0" "11308" "0" "c.11308C>A" "r.(?)" "p.(Leu3770Met)" "" "0000690113" "00025389" "50" "2543" "0" "2543" "0" "c.2543C>T" "r.(?)" "p.(Thr848Met)" "" "0000721626" "00025389" "70" "3485" "0" "3485" "0" "c.3485T>G" "r.(?)" "p.(Val1162Gly)" "" "0000721627" "00025389" "50" "4957" "0" "4957" "0" "c.4957G>A" "r.(?)" "p.(Asp1653Asn)" "" "0000721628" "00025389" "50" "7520" "0" "7520" "0" "c.7520C>T" "r.(?)" "p.(Thr2507Ile)" "" "0000721629" "00025389" "50" "7609" "0" "7609" "0" "c.7609G>A" "r.(?)" "p.(Ala2537Thr)" "" "0000803316" "00025389" "50" "355" "0" "355" "0" "c.355C>T" "r.(?)" "p.(Arg119Cys)" "" "0000803317" "00025389" "50" "9268" "0" "9268" "0" "c.9268G>T" "r.(?)" "p.(Ala3090Ser)" "" "0000803318" "00025389" "50" "9925" "0" "9925" "0" "c.9925G>A" "r.(?)" "p.(Glu3309Lys)" "" "0000803319" "00025389" "50" "11548" "0" "11548" "0" "c.11548C>T" "r.(?)" "p.(Arg3850Cys)" "" "0000839638" "00025389" "90" "3127" "0" "3127" "0" "c.3127G>A" "r.(?)" "p.(Ala1043Thr)" "23" "0000851733" "00025389" "30" "3394" "-4" "3394" "-4" "c.3394-4C>A" "r.spl?" "p.?" "" "0000860980" "00025389" "50" "6376" "0" "6376" "0" "c.6376T>C" "r.(?)" "p.(Cys2126Arg)" "" "0000888058" "00025389" "50" "1339" "0" "1339" "0" "c.1339C>T" "r.(?)" "p.(Arg447Trp)" "" "0000888059" "00025389" "50" "2857" "0" "2857" "0" "c.2857G>A" "r.(?)" "p.(Ala953Thr)" "" "0000888060" "00025389" "50" "3485" "0" "3485" "0" "c.3485T>G" "r.(?)" "p.(Val1162Gly)" "" "0000888061" "00025389" "50" "4087" "0" "4087" "0" "c.4087G>A" "r.(?)" "p.(Val1363Ile)" "" "0000888062" "00025389" "50" "4859" "0" "4859" "0" "c.4859C>T" "r.(?)" "p.(Ala1620Val)" "" "0000888063" "00025389" "50" "6842" "0" "6842" "0" "c.6842A>G" "r.(?)" "p.(Asn2281Ser)" "" "0000909811" "00025389" "90" "1156" "0" "1156" "0" "c.1156G>A" "r.(?)" "p.(Val386Ile)" "" "0000912836" "00025389" "50" "3686" "0" "3686" "0" "c.3686A>G" "r.(?)" "p.(Glu1229Gly)" "" "0000912837" "00025389" "50" "4645" "0" "4645" "0" "c.4645G>A" "r.(?)" "p.(Glu1549Lys)" "" "0000912838" "00025389" "30" "4879" "0" "4879" "0" "c.4879G>A" "r.(?)" "p.(Gly1627Ser)" "" "0000912839" "00025389" "50" "6415" "0" "6415" "0" "c.6415T>G" "r.(?)" "p.(Trp2139Gly)" "" "0000912840" "00025389" "50" "7561" "0" "7561" "0" "c.7561A>G" "r.(?)" "p.(Ile2521Val)" "" "0000912841" "00025389" "50" "7868" "0" "7868" "0" "c.7868C>T" "r.(?)" "p.(Thr2623Met)" "" "0000912842" "00025389" "50" "8792" "0" "8792" "0" "c.8792C>T" "r.(?)" "p.(Thr2931Met)" "" "0000912843" "00025389" "50" "9035" "0" "9035" "0" "c.9035C>T" "r.(?)" "p.(Ser3012Leu)" "" "0000918589" "00025389" "50" "5690" "0" "5690" "0" "c.5690A>C" "r.(?)" "p.(His1897Pro)" "E40" "0000924793" "00025389" "50" "7139" "0" "7139" "0" "c.7139C>G" "r.(?)" "p.(Pro2380Arg)" "" "0000924794" "00025389" "50" "7820" "0" "7820" "0" "c.7820C>G" "r.(?)" "p.(Thr2607Ser)" "" "0000929399" "00025389" "30" "6195" "0" "6195" "0" "c.6195C>T" "r.(?)" "p.(Thr2065=)" "" "0000944352" "00025389" "70" "2086" "0" "2086" "0" "c.2086C>T" "r.(?)" "p.(Arg696Cys)" "" "0000944380" "00025389" "70" "5478" "0" "5478" "0" "c.5478C>A" "r.(?)" "p.(Asp1826Glu)" "" "0000944450" "00025389" "90" "618" "0" "618" "0" "c.618C>A" "r.(?)" "p.(Asp206Glu)" "" "0000948974" "00025389" "30" "5002" "0" "5002" "0" "c.5002C>A" "r.(?)" "p.(=)" "" "0000948975" "00025389" "50" "5718" "0" "5719" "0" "c.5718_5719del" "r.(?)" "p.(His1906Glnfs*105)" "" "0000948976" "00025389" "50" "8051" "0" "8051" "0" "c.8051C>T" "r.(?)" "p.(Pro2684Leu)" "" "0000948977" "00025389" "50" "9859" "0" "9859" "0" "c.9859G>A" "r.(?)" "p.(Asp3287Asn)" "" "0000964727" "00025389" "10" "1350" "79" "1350" "79" "c.1350+79dup" "r.(=)" "p.(=)" "" "0000964731" "00025389" "50" "4465" "0" "4465" "0" "c.4465G>A" "r.(?)" "p.(Asp1489Asn)" "" "0000977920" "00025389" "50" "79" "0" "79" "0" "c.79G>C" "r.(?)" "p.(Ala27Pro)" "" "0000977921" "00025389" "30" "800" "8" "800" "8" "c.800+8G>A" "r.(=)" "p.(=)" "" "0000977922" "00025389" "30" "1570" "0" "1570" "0" "c.1570G>A" "r.(?)" "p.(Val524Met)" "" "0000977923" "00025389" "30" "2007" "231" "2007" "231" "c.2007+231A>G" "r.(=)" "p.(=)" "" "0000977924" "00025389" "50" "2374" "0" "2374" "0" "c.2374A>G" "r.(?)" "p.(Met792Val)" "" "0000977925" "00025389" "30" "2622" "1820" "2622" "1820" "c.2622+1820G>C" "r.(=)" "p.(=)" "" "0000977926" "00025389" "50" "4527" "122" "4527" "122" "c.4527+122T>C" "r.(=)" "p.(=)" "" "0000977927" "00025389" "30" "4647" "10" "4647" "10" "c.4647+10A>G" "r.(=)" "p.(=)" "" "0000977928" "00025389" "30" "4932" "5" "4932" "5" "c.4932+5C>T" "r.spl?" "p.?" "" "0000977929" "00025389" "30" "6037" "0" "6037" "0" "c.6037G>A" "r.(?)" "p.(Val2013Ile)" "" "0000977930" "00025389" "50" "6427" "0" "6427" "0" "c.6427G>A" "r.(?)" "p.(Glu2143Lys)" "" "0000977931" "00025389" "30" "7504" "0" "7504" "0" "c.7504G>A" "r.(?)" "p.(Val2502Met)" "" "0000977932" "00025389" "30" "8324" "0" "8324" "0" "c.8324C>T" "r.(?)" "p.(Ala2775Val)" "" "0000977933" "00025389" "50" "11132" "0" "11132" "0" "c.11132G>A" "r.(?)" "p.(Arg3711Gln)" "" "0000977934" "00025389" "30" "11222" "0" "11222" "0" "c.11222C>T" "r.(?)" "p.(Thr3741Ile)" "" "0000977935" "00025389" "30" "11295" "3" "11295" "3" "c.11295+3G>A" "r.spl?" "p.?" "" "0000977936" "00025389" "50" "11574" "0" "11574" "0" "c.11574G>A" "r.(?)" "p.(Trp3858*)" "" "0000996774" "00025389" "50" "277" "0" "277" "0" "c.277G>A" "r.(?)" "p.(Val93Ile)" "" "0000996775" "00025389" "30" "388" "0" "388" "0" "c.388C>A" "r.(?)" "p.(Leu130Ile)" "" "0000996776" "00025389" "90" "1180" "0" "1180" "0" "c.1180G>A" "r.(?)" "p.(Asp394Asn)" "" "0000996777" "00025389" "50" "1229" "0" "1229" "0" "c.1229C>A" "r.(?)" "p.(Ser410Tyr)" "" "0000996778" "00025389" "50" "1291" "0" "1291" "0" "c.1291C>T" "r.(?)" "p.(Arg431Cys)" "" "0000996779" "00025389" "30" "1558" "0" "1558" "0" "c.1558A>T" "r.(?)" "p.(Thr520Ser)" "" "0000996780" "00025389" "30" "1727" "0" "1727" "0" "c.1727T>C" "r.(?)" "p.(Ile576Thr)" "" "0000996781" "00025389" "30" "3043" "0" "3043" "0" "c.3043C>T" "r.(?)" "p.(Arg1015Trp)" "" "0000996782" "00025389" "30" "3636" "0" "3636" "0" "c.3636G>C" "r.(?)" "p.(Gln1212His)" "" "0000996783" "00025389" "30" "3656" "0" "3656" "0" "c.3656C>T" "r.(?)" "p.(Thr1219Met)" "" "0000996784" "00025389" "50" "3685" "0" "3685" "0" "c.3685G>C" "r.(?)" "p.(Glu1229Gln)" "" "0000996785" "00025389" "50" "4087" "0" "4087" "0" "c.4087G>A" "r.(?)" "p.(Val1363Ile)" "" "0000996786" "00025389" "30" "5003" "0" "5003" "0" "c.5003G>A" "r.(?)" "p.(Arg1668Gln)" "" "0000996787" "00025389" "50" "5917" "-5" "5917" "-5" "c.5917-5C>T" "r.spl?" "p.?" "" "0000996788" "00025389" "30" "6235" "0" "6235" "0" "c.6235C>T" "r.(?)" "p.(Pro2079Ser)" "" "0000996789" "00025389" "10" "6322" "-5" "6322" "-5" "c.6322-5C>T" "r.spl?" "p.?" "" "0000996790" "00025389" "30" "6807" "0" "6807" "0" "c.6807C>G" "r.(?)" "p.(Phe2269Leu)" "" "0000996791" "00025389" "30" "7433" "0" "7433" "0" "c.7433C>T" "r.(?)" "p.(Thr2478Ile)" "" "0000996792" "00025389" "50" "7519" "0" "7519" "0" "c.7519A>G" "r.(?)" "p.(Thr2507Ala)" "" "0000996793" "00025389" "30" "8086" "0" "8086" "0" "c.8086C>G" "r.(?)" "p.(Leu2696Val)" "" "0000996794" "00025389" "30" "8417" "0" "8417" "0" "c.8417G>A" "r.(?)" "p.(Arg2806Lys)" "" "0000996795" "00025389" "30" "8423" "0" "8423" "0" "c.8423A>G" "r.(?)" "p.(Asn2808Ser)" "" "0000996796" "00025389" "50" "8620" "0" "8620" "0" "c.8620G>A" "r.(?)" "p.(Val2874Met)" "" "0000996797" "00025389" "50" "8681" "0" "8681" "0" "c.8681G>C" "r.(?)" "p.(Cys2894Ser)" "" "0000996798" "00025389" "30" "10709" "0" "10709" "0" "c.10709C>A" "r.(?)" "p.(Thr3570Lys)" "" "0000996799" "00025389" "50" "10862" "0" "10862" "0" "c.10862C>T" "r.(?)" "p.(Thr3621Met)" "" "0000996800" "00025389" "50" "11431" "0" "11431" "0" "c.11431G>A" "r.(?)" "p.(Val3811Ile)" "" "0001025457" "00025389" "50" "4922" "0" "4922" "0" "c.4922A>G" "r.(?)" "p.(Gln1641Arg)" "" "0001025458" "00025389" "50" "5014" "0" "5014" "0" "c.5014G>A" "r.(?)" "p.(Val1672Met)" "" "0001025459" "00025389" "50" "6679" "0" "6679" "0" "c.6679C>T" "r.(?)" "p.(Pro2227Ser)" "" "0001025460" "00025389" "50" "11278" "0" "11278" "0" "c.11278G>A" "r.(?)" "p.(Ala3760Thr)" "" "0001036616" "00025389" "30" "-61" "-5" "-61" "-5" "c.-61-5C>T" "r.spl?" "p.?" "" "0001036617" "00025389" "30" "151" "-2587" "151" "-2586" "c.151-2587_151-2586insGA" "r.(=)" "p.(=)" "" "0001036618" "00025389" "30" "366" "261" "366" "261" "c.366+261G>T" "r.(=)" "p.(=)" "" "0001036619" "00025389" "50" "1521" "0" "1538" "0" "c.1521_1538del" "r.(?)" "p.(Pro510_Pro515del)" "" "0001036620" "00025389" "30" "2365" "307" "2365" "307" "c.2365+307A>G" "r.(=)" "p.(=)" "" "0001036621" "00025389" "30" "2622" "1608" "2622" "1608" "c.2622+1608G>A" "r.(=)" "p.(=)" "" "0001036622" "00025389" "30" "4575" "0" "4575" "0" "c.4575G>A" "r.(?)" "p.(=)" "" "0001036623" "00025389" "50" "6044" "0" "6044" "0" "c.6044A>G" "r.(?)" "p.(Lys2015Arg)" "" "0001036624" "00025389" "30" "6468" "6" "6468" "9" "c.6468+6_6468+9del" "r.(=)" "p.(=)" "" "0001036625" "00025389" "50" "9164" "0" "9164" "0" "c.9164A>G" "r.(?)" "p.(Asn3055Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 37 "{{screeningid}}" "{{variantid}}" "0000227466" "0000467305" "0000227467" "0000467306" "0000227468" "0000467307" "0000227469" "0000467308" "0000227470" "0000467309" "0000227471" "0000467310" "0000227472" "0000467311" "0000227473" "0000467312" "0000227474" "0000467313" "0000227475" "0000467314" "0000227476" "0000467315" "0000227477" "0000467316" "0000227478" "0000467317" "0000227479" "0000467320" "0000227480" "0000467321" "0000227481" "0000467322" "0000227482" "0000467323" "0000227483" "0000467324" "0000227484" "0000467318" "0000227485" "0000467319" "0000227486" "0000467325" "0000227487" "0000467326" "0000227488" "0000467327" "0000227489" "0000467328" "0000227490" "0000467329" "0000227491" "0000467330" "0000227492" "0000467331" "0000227493" "0000467332" "0000227494" "0000467333" "0000227495" "0000467334" "0000227496" "0000467335" "0000404053" "0000839638" "0000430082" "0000909811" "0000432967" "0000918589" "0000442993" "0000944352" "0000443021" "0000944380" "0000443030" "0000944450"