### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TREX1) # 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}}" "TREX1" "three prime repair exonuclease 1" "3" "p21.31" "unknown" "NG_009820.2" "UD_136018180362" "" "https://www.LOVD.nl/TREX1" "" "1" "12269" "11277" "606609" "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/TREX1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2008-06-06 00:00:00" "00006" "2017-08-04 16:39:06" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00021780" "TREX1" "transcript variant 1" "001" "NM_016381.4" "" "NP_057465.1" "" "" "" "-971" "1155" "1110" "48506919" "48509044" "" "0000-00-00 00:00:00" "" "" "00024308" "TREX1" "transcript variant 4" "002" "NM_033629.3" "" "NP_338599.1" "" "" "" "-816" "990" "945" "48506919" "48509044" "00006" "2017-08-04 16:42:02" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00885" "AGS1" "Aicardi-Goutieres syndrome, type 1, dominant and recessive (AGS1)" "AD;AR" "225750" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00886" "CHBL1" "Chilblain lupus, type 1 (CHBL1)" "AD" "610448" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-11-18 14:25:22" "00887" "RVCL" "vasculopathy, retinal, with cerebral leukodystrophy (RVCL)" "AD" "192315" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-11-18 14:22:57" "01417" "SLE" "lupus erythematosus, systemic, susceptibility to (SLE)" "AD" "152700" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01814" "GLC3A" "glaucoma, congenital, primary, type 3A (GLC-3A)" "AR" "231300" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05881" "CHBL" "Chilblain lupus (CHBL)" "" "" "" "" "" "00006" "2020-11-18 14:26:13" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{geneid}}" "{{diseaseid}}" "TREX1" "00139" "TREX1" "00885" "TREX1" "00886" "TREX1" "00887" "TREX1" "01417" "TREX1" "05881" ## Individuals ## Do not remove or alter this header ## ## Count = 83 "{{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}}" "00112321" "" "" "" "1" "" "01534" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "" "Brazil" "" "0" "" "" "" "" "00112322" "" "" "" "1" "" "01534" "{PMID:Lee-Kirsch 2007:17440703}" "heterozygous mutation" "" "" "" "" "0" "" "" "" "" "00112323" "" "" "" "1" "" "01534" "{PMID:Haaxma 2010:20799324}" "de novo heterozygous mutation" "" "" "" "" "0" "" "" "" "" "00112324" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "dominant heterozygous mutation" "" "" "" "" "0" "" "" "" "" "00112325" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00112326" "" "" "" "3" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00112327" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00112328" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "single heterozygous mutation - second, if present, uncharacterised" "" "" "" "" "0" "" "" "" "" "00112329" "" "" "" "8" "" "01534" "{PMID:Crow 2006:16845398}" "homozygous mutation" "" "" "" "" "0" "" "" "" "" "00112330" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00112331" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00112332" "" "" "" "1" "" "01534" "{PMID:Ramantani 2010:20131292}" "compound heterozygous mutation with R114H" "" "" "" "" "0" "" "" "" "" "00112333" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00112334" "" "" "" "2" "" "01534" "{PMID:Rice 2007:17846997}" "homozygous mutation" "" "" "" "" "0" "" "" "" "" "00112335" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00112336" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00112337" "" "" "" "18" "" "01534" "{PMID:Crow 2006:16845398}" "homozygous and compound heterozygous mutation for AGS1, also identied as heterozygous mutation in SLE patient" "" "" "" "" "0" "" "" "" "" "00112338" "" "" "" "5" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "one case with heterozygosity for the RNASEH2B mutation c.529G>A as well - unclear significance" "" "" "" "" "0" "" "" "" "" "00112339" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00112340" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00112341" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00112342" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00112343" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "single heterozygous mutation - second, if present, uncharacterised" "" "" "" "" "0" "" "" "" "" "00112344" "" "" "" "1" "" "01534" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "" "Belgium" "" "0" "" "" "" "" "00112345" "" "" "" "1" "" "01534" "{PMID:Rice 2007:17846997}" "homozygous mutation" "" "" "" "" "0" "" "" "" "" "00112346" "" "" "" "1" "" "01534" "{PMID:Rice 2007:17846997}" "homozygous mutation" "" "" "" "" "0" "" "" "" "" "00112347" "" "" "" "1" "" "01534" "{PMID:Rice 2007:17357087}" "heterozygous mutation" "" "" "" "" "0" "" "" "" "" "00112348" "" "" "" "1" "" "01534" "{PMID:Rice 2007:17357087}" "heterozygous mutation" "" "" "" "" "0" "" "" "" "" "00112349" "" "" "" "2" "" "01534" "{PMID:Rice 2007:17846997}" "homozygous mutation" "" "" "" "" "0" "" "" "" "" "00112350" "" "" "" "2" "" "01534" "{PMID:Rice 2007:17846997}" "homozygous and compound heterozygous mutation" "" "" "" "" "0" "" "" "" "" "00112351" "" "" "" "1" "" "01534" "{PMID:Lee-Kirsch 2007:17660818}" "heterozygous mutation" "" "" "" "" "0" "" "" "" "" "00112352" "" "" "" "2" "" "01534" "{PMID:Crow 2006:16845398}" "homozygous mutation" "" "" "" "" "0" "" "" "" "" "00112353" "" "" "" "1" "" "01534" "{PMID:Ramantani 2010:20131292}" "compound heterozygous mutation with R114H" "" "" "" "" "0" "" "" "" "" "00112354" "" "" "" "1" "" "01534" "{PMID:Rice 2007:17846997}" "homozygous mutation" "" "" "" "" "0" "" "" "" "" "00112355" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "heterozygous variant" "" "" "" "" "0" "" "" "" "" "00112356" "" "" "" "1" "" "01534" "{PMID:Ramantani 2010:20131292}" "homozygous mutation" "" "" "" "" "0" "" "" "" "" "00112357" "" "" "" "1" "" "01534" "{PMID:Rice 2007:17357087}" "heterozygous de novo mutation" "" "" "" "" "0" "" "" "" "" "00112358" "" "" "" "1" "" "01534" "{PMID:Ramantani 2010:20131292}" "heterozygous, de novo mutation" "" "" "" "" "0" "" "" "" "" "00112359" "" "" "" "2" "" "01534" "{PMID:Crow 2006:16845398}" "compound heterozygous mutation with R114H" "" "" "" "" "0" "" "" "" "" "00112360" "" "" "" "2" "" "01534" "{PMID:Crow 2006:16845398}" "homozygous mutation" "" "" "" "" "0" "" "" "" "" "00112361" "" "" "" "2" "" "01534" "{PMID:Rice 2007:17846997}" "homozygous mutation" "" "" "" "" "0" "" "" "" "" "00112362" "" "" "" "1" "" "01534" "{PMID:Rice 2007:17846997}" "homozygous mutation" "" "" "" "" "0" "" "" "" "" "00112363" "" "" "" "2" "" "01534" "{PMID:Rice 2007:17846997}" "homozygous mutation" "" "" "" "" "0" "" "" "" "" "00112364" "" "" "" "1" "" "01534" "{PMID:Lee-Kirsch 2007:17660818}" "heterozygous mutation" "" "" "" "" "0" "" "" "" "" "00112365" "" "" "" "1" "" "01534" "{PMID:Ramantani 2010:20131292}" "compound heterozygous mutation with R114H" "" "" "" "" "0" "" "" "" "" "00112366" "" "" "" "1" "" "01534" "{PMID:Lee-Kirsch 2007:17660818}" "heterozygous mutation" "" "" "" "" "0" "" "" "" "" "00112367" "" "" "" "5" "" "01534" "{PMID:Richards 2007:17660820}" "heterozygous mutation" "" "" "" "" "0" "" "" "" "" "00112368" "" "" "" "1" "" "01534" "{PMID:Richards 2007:17660820}" "heterozygous mutation" "" "" "" "" "0" "" "" "" "" "00112369" "" "" "" "1" "" "01534" "{PMID:Lee-Kirsch 2007:17660818}" "heterozygous mutation" "" "" "" "" "0" "" "" "" "" "00112370" "" "" "" "1" "" "01534" "{PMID:Richards 2007:17660820}" "heterozygous mutation" "" "" "" "" "0" "" "" "" "" "00112371" "" "" "" "1" "" "01534" "{PMID:Lee-Kirsch 2007:17660818}" "heterozygous mutation" "" "" "" "" "0" "" "" "" "" "00112372" "" "" "" "1" "" "01534" "{PMID:Richards 2007:17660820}" "heterozygous mutation" "" "" "" "" "0" "" "" "" "" "00112373" "" "" "" "1" "" "01534" "{PMID:Richards 2007:17660820}" "heterozygous mutation" "" "" "" "" "0" "" "" "" "" "00112374" "" "" "" "1" "" "01534" "{PMID:Ramantani 2010:20131292}" "homozygous mutation" "" "" "" "" "0" "" "" "" "" "00112375" "" "" "" "2" "" "01534" "{PMID:Rice 2007:17846997}" "homozygous mutation" "" "" "" "" "0" "" "" "" "" "00112376" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00112377" "" "" "" "1" "" "01534" "{PMID:Lee-Kirsch 2007:17660818}" "heterozygous mutation" "" "" "" "" "0" "" "" "" "" "00112378" "" "" "" "2" "" "01534" "{PMID:Rice 2007:17846997}" "homozygous mutation" "" "" "" "" "0" "" "" "" "" "00112379" "" "" "" "1" "" "01534" "{PMID:Gruver 2011:21131853}" "heterozygous mutation" "" "" "" "" "0" "" "" "" "" "00112380" "" "" "" "1" "" "01534" "{PMID:Lee-Kirsch 2007:17660818}" "heterozygous mutation" "" "" "" "" "0" "" "" "" "" "00112381" "" "" "" "1" "" "01534" "{PMID:Lee-Kirsch 2007:17660818}" "heterozygous mutation" "" "" "" "" "0" "" "" "" "" "00112382" "" "" "" "1" "" "01534" "{PMID:Lee-Kirsch 2007:17660818}" "heterozygous mutation" "" "" "" "" "0" "" "" "" "" "00112383" "" "" "" "1" "" "01534" "{PMID:Lee-Kirsch 2007:17660818}" "heterozygous mutation" "" "" "" "" "0" "" "" "" "" "00112385" "" "" "" "1" "" "01864" "" "" "M" "no" "China" ">02y" "0" "" "" "" "P18" "00112386" "" "" "" "1" "" "01534" "{PMID:de Vries 2010:19875384}" "heterozygous mutation" "" "" "" "" "0" "" "" "" "" "00209999" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00295637" "" "" "" "1" "" "01164" "" "" "?" "" "" "" "0" "" "" "" "" "00308030" "" "" "" "2" "" "00006" "{PMID:Mahler 2019:31056085}" "2-generation family, several affected, unaffected heterozygous carrier parents" "" "no" "Germany" "" "0" "" "" "" "Pat9" "00320006" "" "" "" "1" "" "01164" "" "" "M" "?" "Germany" "" "0" "" "" "" "171633" "00328367" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "M" "" "China" "" "0" "" "" "" "690716" "00328391" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "680722" "00328434" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "690986" "00363352" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM751" "00363370" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM866" "00374125" "" "" "" "1" "" "00006" "{PMID:Lefebvre 2021:32732226}" "fetus" "F" "yes" "France" "" "0" "" "" "" "" "00374876" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5501" "00379401" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379435" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379447" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00382118" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "223" "00390041" "" "" "" "1" "" "00000" "{PMID:Liu 2020:32562694}" "" "?" "" "China" "" "0" "" "" "" "G1517" "00392914" "" "" "" "1" "" "00000" "{PMID:Bergant 2021:33807868}" "" "" "" "Italy" "" "0" "" "" "" "P12" "00426946" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 50, individual 59" "F" "" "" "" "0" "" "" "" "50_59" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 82 "{{individualid}}" "{{diseaseid}}" "00112321" "00885" "00112322" "00886" "00112323" "00885" "00112324" "00886" "00112325" "00885" "00112326" "00885" "00112327" "00885" "00112328" "00885" "00112329" "00885" "00112330" "00885" "00112331" "00885" "00112332" "00885" "00112333" "00885" "00112334" "00885" "00112335" "00885" "00112336" "00885" "00112337" "00885" "00112338" "00885" "00112339" "00885" "00112340" "00885" "00112341" "00885" "00112342" "00885" "00112343" "00885" "00112344" "00885" "00112345" "00885" "00112346" "00885" "00112347" "00886" "00112348" "00886" "00112349" "00885" "00112350" "00885" "00112351" "01417" "00112352" "00198" "00112353" "00885" "00112354" "00885" "00112355" "00885" "00112356" "00885" "00112357" "00885" "00112358" "00885" "00112359" "00885" "00112360" "00885" "00112361" "00885" "00112362" "00885" "00112363" "00885" "00112364" "01417" "00112365" "00885" "00112366" "01417" "00112367" "00887" "00112368" "00887" "00112369" "01417" "00112370" "00887" "00112371" "01417" "00112372" "00887" "00112373" "00887" "00112374" "00885" "00112375" "00885" "00112376" "00885" "00112377" "01417" "00112378" "00885" "00112379" "00887" "00112380" "01417" "00112381" "01417" "00112382" "01417" "00112383" "01417" "00112385" "00139" "00112386" "01417" "00295637" "00198" "00308030" "00198" "00320006" "00887" "00328367" "04214" "00328391" "04214" "00328434" "04214" "00363352" "04214" "00363370" "04214" "00374125" "00198" "00374876" "00198" "00379401" "04214" "00379435" "04214" "00379447" "04214" "00382118" "01814" "00390041" "04214" "00392914" "04214" "00426946" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00885, 00886, 00887, 01417, 01814, 04214, 05881 ## Count = 83 "{{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}}" "0000087885" "00885" "00112321" "01534" "Unknown" "" "Aicardi Goutieres Syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000087886" "00886" "00112322" "01534" "Unknown" "" "chilblain lupus" "" "" "" "" "" "" "" "" "" "" "" "0000087887" "00885" "00112323" "01534" "Unknown" "" "Aicardi-Goutieres Syndrome 1" "" "" "" "" "" "" "" "" "" "" "" "0000087888" "00886" "00112324" "01536" "Unknown" "" "familial chilblain lupus" "" "" "" "" "" "" "" "" "" "" "" "0000087889" "00885" "00112325" "01536" "Unknown" "" "Aicardi-Goutieres Syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000087890" "00885" "00112326" "01536" "Unknown" "" "Aicardi-Goutieres Syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000087891" "00885" "00112327" "01536" "Unknown" "" "Aicardi-Goutieres Syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000087892" "00885" "00112328" "01536" "Unknown" "" "Aicardi-Goutieres Syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000087893" "00885" "00112329" "01534" "Unknown" "" "Aicardi-Goutieres Syndrome 1" "" "" "" "" "" "" "" "" "" "" "" "0000087894" "00885" "00112330" "01536" "Unknown" "" "Aicardi-Goutieres Syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000087895" "00885" "00112331" "01536" "Unknown" "" "Aicardi-Goutieres Syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000087896" "00885" "00112332" "01534" "Unknown" "" "Aicardi-Goutieres Syndrome 1" "" "" "" "" "" "" "" "" "" "" "" "0000087897" "00885" "00112333" "01536" "Unknown" "" "Aicardi-Goutieres Syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000087898" "00885" "00112334" "01534" "Unknown" "" "Aicardi-Goutieres Syndrome 1" "" "" "" "" "" "" "" "" "" "" "" "0000087899" "00885" "00112335" "01536" "Unknown" "" "Aicardi-Goutieres Syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000087900" "00885" "00112336" "01536" "Unknown" "" "Aicardi-Goutieres Syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000087901" "00885" "00112337" "01534" "Unknown" "" "Aicardi-Goutieres Syndrome 1" "" "" "" "" "" "" "" "" "" "" "" "0000087902" "00885" "00112338" "01536" "Familial, autosomal recessive" "" "Aicardi-Goutieres Syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000087903" "00885" "00112339" "01536" "Unknown" "" "Aicardi-Goutieres Syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000087904" "00885" "00112340" "01536" "Unknown" "" "Aicardi-Goutieres Syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000087905" "00885" "00112341" "01536" "Unknown" "" "Aicardi-Goutieres Syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000087906" "00885" "00112342" "01536" "Unknown" "" "Aicardi-Goutieres Syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000087907" "00885" "00112343" "01536" "Unknown" "" "Aicardi-Goutieres Syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000087908" "00885" "00112344" "01534" "Unknown" "" "Aicardi Goutieres Syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000087909" "00885" "00112345" "01534" "Unknown" "" "Aicardi-Goutieres Syndrome 1" "" "" "" "" "" "" "" "" "" "" "" "0000087910" "00885" "00112346" "01534" "Unknown" "" "Aicardi-Goutieres Syndrome 1" "" "" "" "" "" "" "" "" "" "" "" "0000087911" "00886" "00112347" "01534" "Unknown" "" "familial chilblain lupus" "" "" "" "" "" "" "" "" "" "" "" "0000087912" "00886" "00112348" "01534" "Unknown" "" "familial chilblain lupus" "" "" "" "" "" "" "" "" "" "" "" "0000087913" "00885" "00112349" "01534" "Unknown" "" "Aicardi-Goutieres Syndrome 1" "" "" "" "" "" "" "" "" "" "" "" "0000087914" "00885" "00112350" "01534" "Unknown" "" "Aicardi-Goutieres Syndrome 1" "" "" "" "" "" "" "" "" "" "" "" "0000087915" "01417" "00112351" "01534" "Unknown" "" "systemic lupus erythematosus" "" "" "" "" "" "" "" "" "" "" "" "0000087916" "00198" "00112352" "01534" "Unknown" "" "Cree Encephalitis" "" "" "" "" "" "" "" "" "" "" "" "0000087917" "00885" "00112353" "01534" "Unknown" "" "Aicardi-Goutieres Syndrome 1" "" "" "" "" "" "" "" "" "" "" "" "0000087918" "00885" "00112354" "01534" "Unknown" "" "Aicardi-Goutieres Syndrome 1" "" "" "" "" "" "" "" "" "" "" "" "0000087919" "00885" "00112355" "01536" "Unknown" "" "Aicardi-Goutieres Syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000087920" "00885" "00112356" "01534" "Unknown" "" "Aicardi-Goutieres Syndrome 1" "" "" "" "" "" "" "" "" "" "" "" "0000087921" "00885" "00112357" "01534" "Unknown" "" "Aicardi-Goutieres Syndrome 1" "" "" "" "" "" "" "" "" "" "" "" "0000087922" "00885" "00112358" "01534" "Unknown" "" "Aicardi-Goutieres Syndrome 1" "" "" "" "" "" "" "" "" "" "" "" "0000087923" "00885" "00112359" "01534" "Unknown" "" "Aicardi-Goutieres Syndrome 1" "" "" "" "" "" "" "" "" "" "" "" "0000087924" "00885" "00112360" "01534" "Unknown" "" "Aicardi-Goutieres Syndrome 1" "" "" "" "" "" "" "" "" "" "" "" "0000087925" "00885" "00112361" "01534" "Unknown" "" "Aicardi-Goutieres Syndrome 1" "" "" "" "" "" "" "" "" "" "" "" "0000087926" "00885" "00112362" "01534" "Unknown" "" "Aicardi-Goutieres Syndrome 1" "" "" "" "" "" "" "" "" "" "" "" "0000087927" "00885" "00112363" "01534" "Unknown" "" "Aicardi-Goutieres Syndrome 1" "" "" "" "" "" "" "" "" "" "" "" "0000087928" "01417" "00112364" "01534" "Unknown" "" "systemic lupus erythematosus" "" "" "" "" "" "" "" "" "" "" "" "0000087929" "00885" "00112365" "01534" "Unknown" "" "Aicardi-Goutieres Syndrome 1" "" "" "" "" "" "" "" "" "" "" "" "0000087930" "01417" "00112366" "01534" "Unknown" "" "systemic lupus erythematosus" "" "" "" "" "" "" "" "" "" "" "" "0000087931" "00887" "00112367" "01534" "Unknown" "" "retinal vasculopathy with cerebral leukodystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000087932" "00887" "00112368" "01534" "Unknown" "" "retinal vasculopathy with cerebral leukodystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000087933" "01417" "00112369" "01534" "Unknown" "" "systemic lupus erythematosus" "" "" "" "" "" "" "" "" "" "" "" "0000087934" "00887" "00112370" "01534" "Unknown" "" "retinal vasculopathy with cerebral leukodystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000087935" "01417" "00112371" "01534" "Unknown" "" "systemic lupus erythematosus" "" "" "" "" "" "" "" "" "" "" "" "0000087936" "00887" "00112372" "01534" "Unknown" "" "retinal vasculopathy with cerebral leukodystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000087937" "00887" "00112373" "01534" "Unknown" "" "retinal vasculopathy with cerebral leukodystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000087938" "00885" "00112374" "01534" "Unknown" "" "Aicardi-Goutieres Syndrome 1" "" "" "" "" "" "" "" "" "" "" "" "0000087939" "00885" "00112375" "01534" "Unknown" "" "Aicardi-Goutieres Syndrome 1" "" "" "" "" "" "" "" "" "" "" "" "0000087940" "00885" "00112376" "01536" "Unknown" "" "Aicardi-Goutieres Syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000087941" "01417" "00112377" "01534" "Unknown" "" "systemic lupus erythematosus" "" "" "" "" "" "" "" "" "" "" "" "0000087942" "00885" "00112378" "01534" "Unknown" "" "Aicardi-Goutieres Syndrome 1" "" "" "" "" "" "" "" "" "" "" "" "0000087943" "00887" "00112379" "01534" "Unknown" "" "Retinal Vasculopathy with Cerebral Leukodystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000087944" "01417" "00112380" "01534" "Unknown" "" "systemic lupus erythematosus" "" "" "" "" "" "" "" "" "" "" "" "0000087945" "01417" "00112381" "01534" "Unknown" "" "systemic lupus erythematosus" "" "" "" "" "" "" "" "" "" "" "" "0000087946" "01417" "00112382" "01534" "Unknown" "" "systemic lupus erythematosus" "" "" "" "" "" "" "" "" "" "" "" "0000087947" "01417" "00112383" "01534" "Unknown" "" "systemic lupus erythematosus" "" "" "" "" "" "" "" "" "" "" "" "0000087949" "00139" "00112385" "01864" "Isolated (sporadic)" "" "HP:0000252; HP:0001999; HP:0007042; HP:0000639; HP:0000028; HP:0008081; HP:0002019; global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "" "" "0000087950" "01417" "00112386" "01534" "Unknown" "" "neurophsychiatric systemic lupus erythematosus" "" "" "" "" "" "" "" "" "" "" "" "0000158597" "00198" "00209999" "01164" "Unknown" "" "HP:0012159 (Internal carotid artery dissection); HP:0001382 (Joint hypermobility)" "" "" "" "" "" "" "" "" "" "" "" "0000223201" "00198" "00295637" "01164" "Unknown" "" "Aplasia/Hypoplasia of the cerebellum (HP:0007360); Abnormality of prenatal development or birth (HP:0001197); Abnormality of nervous system morphology (HP:0012639)" "" "" "" "" "" "" "" "" "" "" "" "0000233456" "00198" "00308030" "00006" "Familial, autosomal recessive" "" "severe global developmental delay, leukodystrophy, cerebellar hypoplasia" "" "" "" "" "" "" "" "" "AGS1" "developmental delay" "" "0000242050" "00887" "00320006" "01164" "Unknown" "50y" "Cerebral microangiopathy; unclear WML and suspected migraine headache DD CADASIL" "" "" "" "" "" "" "" "" "" "" "" "0000246593" "04214" "00328367" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246617" "04214" "00328391" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "late-onset high myopia" "" "0000246660" "04214" "00328434" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000258717" "04214" "00363352" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000258735" "04214" "00363370" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000269336" "00198" "00374125" "00006" "Familial, autosomal recessive" "<0d" "26w-fetus, ultrasound Hydrops, intrauterine growth retardation; autopsy Hydrops, intrauterine growth retardation, cerebral calcification, hepatomegaly" "" "" "" "" "" "" "" "" "" "multiple congenital abnormalities" "" "0000270086" "00198" "00374876" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "epilepsy, leukodystrophy" "" "0000273274" "04214" "00379401" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "late-onset high myopia (loHM)" "" "0000273308" "04214" "00379435" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273320" "04214" "00379447" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000275960" "01814" "00382118" "00000" "Familial, autosomal recessive" "" "anterior segment developmental anomalies including glaucoma; MIM, 225750" "" "" "" "" "" "" "" "" "" "MIM, 225750" "" "0000283581" "04214" "00390041" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "early-onset primary angle closure glaucoma" "early-onset primary angle closure glaucoma" "" "0000286154" "04214" "00392914" "00000" "Familial, autosomal dominant" "58y" "endotheliopathy, retinopathy, nephropathy, hepatopathy and leukopathy; dysarthria, dysmetria, wide gait and psychomotor impairment; pancytopenia with low erythropoietin as well as low thyroid hormone levels" "35y" "" "" "" "" "" "" "" "HERNS syndrome" "" "" "0000318084" "04214" "00426946" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 83 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000112779" "00112321" "1" "01534" "01534" "2012-11-30 16:54:20" "" "" "SEQ" "DNA" "" "" "0000112780" "00112322" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:44:44" "SEQ" "DNA" "" "" "0000112781" "00112323" "1" "01534" "01534" "2011-02-17 08:55:37" "01534" "2012-06-01 13:54:07" "SEQ" "DNA" "" "" "0000112782" "00112324" "1" "01536" "01536" "2012-01-11 18:33:11" "01534" "2012-04-16 15:50:50" "SEQ" "DNA" "" "" "0000112783" "00112325" "1" "01536" "01536" "2012-07-21 18:27:12" "" "" "SEQ" "DNA" "" "" "0000112784" "00112326" "1" "01536" "01536" "2012-01-12 14:20:27" "" "" "SEQ" "DNA" "" "" "0000112785" "00112327" "1" "01536" "01536" "2012-01-12 16:53:57" "" "" "SEQ" "DNA" "" "" "0000112786" "00112328" "1" "01536" "01536" "2012-09-29 16:17:01" "" "" "SEQ" "DNA" "" "" "0000112787" "00112329" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:47:50" "SEQ" "DNA" "" "" "0000112788" "00112330" "1" "01536" "01536" "2012-01-14 14:35:31" "" "" "SEQ" "DNA" "" "" "0000112789" "00112331" "1" "01536" "01536" "2012-01-17 17:22:56" "" "" "SEQ" "DNA" "" "" "0000112790" "00112332" "1" "01534" "01534" "2011-02-17 08:55:37" "01534" "2012-06-01 13:54:53" "SEQ" "DNA" "" "" "0000112791" "00112333" "1" "01536" "01536" "2012-01-17 18:59:24" "" "" "SEQ" "DNA" "" "" "0000112792" "00112334" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:51:14" "SEQ" "DNA" "" "" "0000112793" "00112335" "1" "01536" "01536" "2012-01-17 19:11:32" "" "" "SEQ" "DNA" "" "" "0000112794" "00112336" "1" "01536" "01536" "2012-01-14 14:52:52" "" "" "SEQ" "DNA" "" "" "0000112795" "00112337" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:47:50" "SEQ" "DNA" "" "" "0000112796" "00112338" "1" "01536" "01536" "2012-01-14 14:05:25" "01536" "2012-09-29 18:05:18" "SEQ" "DNA" "" "" "0000112797" "00112339" "1" "01536" "01536" "2012-01-14 14:29:10" "" "" "SEQ" "DNA" "" "" "0000112798" "00112340" "1" "01536" "01536" "2012-01-14 15:02:43" "" "" "SEQ" "DNA" "" "" "0000112799" "00112341" "1" "01536" "01536" "2012-01-14 15:13:25" "" "" "SEQ" "DNA" "" "" "0000112800" "00112342" "1" "01536" "01536" "2012-01-17 13:51:09" "" "" "SEQ" "DNA" "" "" "0000112801" "00112343" "1" "01536" "01536" "2012-03-24 18:11:01" "" "" "SEQ" "DNA" "" "" "0000112802" "00112344" "1" "01534" "01534" "2012-11-30 16:59:15" "" "" "SEQ" "DNA" "" "" "0000112803" "00112345" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:51:14" "SEQ" "DNA" "" "" "0000112804" "00112346" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:51:14" "SEQ" "DNA" "" "" "0000112805" "00112347" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:53:23" "SEQ" "DNA" "" "" "0000112806" "00112348" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:52:25" "SEQ" "DNA" "" "" "0000112807" "00112349" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:51:14" "SEQ" "DNA" "" "" "0000112808" "00112350" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:51:14" "SEQ" "DNA" "" "" "0000112809" "00112351" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:50:04" "SEQ" "DNA" "" "" "0000112810" "00112352" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:47:50" "SEQ" "DNA" "" "" "0000112811" "00112353" "1" "01534" "01534" "2011-02-17 08:55:37" "01534" "2012-06-01 13:54:53" "SEQ" "DNA" "" "" "0000112812" "00112354" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:51:14" "SEQ" "DNA" "" "" "0000112813" "00112355" "1" "01536" "01536" "2012-03-28 19:37:10" "01536" "2012-03-28 19:38:41" "SEQ" "DNA" "" "" "0000112814" "00112356" "1" "01534" "01534" "2011-02-17 08:55:37" "01534" "2012-06-01 13:48:53" "SEQ" "DNA" "" "" "0000112815" "00112357" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:53:23" "SEQ" "DNA" "" "" "0000112816" "00112358" "1" "01534" "01534" "2011-02-17 08:55:37" "01534" "2012-06-01 13:48:53" "SEQ" "DNA" "" "" "0000112817" "00112359" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:47:50" "SEQ" "DNA" "" "" "0000112818" "00112360" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:47:50" "SEQ" "DNA" "" "" "0000112819" "00112361" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:51:14" "SEQ" "DNA" "" "" "0000112820" "00112362" "1" "01534" "01534" "2011-02-17 08:55:37" "01534" "2012-06-01 13:58:06" "SEQ" "DNA" "" "" "0000112821" "00112363" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:51:14" "SEQ" "DNA" "" "" "0000112822" "00112364" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:50:04" "SEQ" "DNA" "" "" "0000112823" "00112365" "1" "01534" "01534" "2011-02-17 08:55:37" "01534" "2012-06-01 13:48:53" "SEQ" "DNA" "" "" "0000112824" "00112366" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:50:04" "SEQ" "DNA" "" "" "0000112825" "00112367" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:57:14" "SEQ" "DNA" "" "" "0000112826" "00112368" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:57:14" "SEQ" "DNA" "" "" "0000112827" "00112369" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:50:04" "SEQ" "DNA" "" "" "0000112828" "00112370" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:57:14" "SEQ" "DNA" "" "" "0000112829" "00112371" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:50:04" "SEQ" "DNA" "" "" "0000112830" "00112372" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:57:14" "SEQ" "DNA" "" "" "0000112831" "00112373" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:57:14" "SEQ" "DNA" "" "" "0000112832" "00112374" "1" "01534" "01534" "2011-02-17 08:55:37" "01534" "2012-06-01 13:48:53" "SEQ" "DNA" "" "" "0000112833" "00112375" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:51:14" "SEQ" "DNA" "" "" "0000112834" "00112376" "1" "01536" "01536" "2012-01-17 18:48:51" "" "" "SEQ" "DNA" "" "" "0000112835" "00112377" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:50:04" "SEQ" "DNA" "" "" "0000112836" "00112378" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:51:14" "SEQ" "DNA" "" "" "0000112837" "00112379" "1" "01534" "01534" "2011-07-22 16:03:44" "01534" "2012-07-31 14:44:25" "SEQ" "DNA" "" "" "0000112838" "00112380" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:50:04" "SEQ" "DNA" "" "" "0000112839" "00112381" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:50:04" "SEQ" "DNA" "" "" "0000112840" "00112382" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:50:04" "SEQ" "DNA" "" "" "0000112841" "00112383" "1" "01534" "01534" "2011-02-17 08:55:37" "01534" "2012-06-01 13:59:00" "SEQ" "DNA" "" "" "0000112843" "00112385" "1" "01864" "01864" "2017-03-30 09:50:47" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000112844" "00112386" "1" "01534" "01534" "2011-02-17 08:55:37" "01534" "2012-06-01 13:56:05" "SEQ" "DNA" "" "" "0000211056" "00209999" "1" "01164" "01164" "2018-12-25 09:53:41" "" "" "SEQ-NG" "DNA" "" "" "0000296809" "00295637" "1" "01164" "01164" "2020-03-22 12:42:58" "" "" "SEQ-NG-S" "DNA" "" "" "0000309174" "00308030" "1" "00006" "00006" "2020-08-25 19:47:51" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000321189" "00320006" "1" "01164" "01164" "2020-11-18 12:11:48" "" "" "SEQ-NG-I" "DNA" "" "" "0000329581" "00328367" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329605" "00328391" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329648" "00328434" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000364580" "00363352" "1" "00000" "00006" "2021-04-26 18:22:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000364598" "00363370" "1" "00000" "00006" "2021-04-26 18:22:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000375318" "00374125" "1" "00006" "00006" "2021-05-23 14:33:57" "" "" "SEQ-NG" "DNA" "" "WES" "0000376070" "00374876" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000380601" "00379401" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380635" "00379435" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380647" "00379447" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000383334" "00382118" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG" "DNA" "blood" "" "0000391282" "00390041" "1" "00000" "03840" "2021-11-08 12:45:13" "" "" "SEQ-NG-I" "DNA" "blood" "326 selected genes from whole exome sequencing" "0000394161" "00392914" "1" "00000" "03840" "2021-11-25 10:23:18" "" "" "SEQ" "DNA" "blood" "whole genome sequencing after negative exome" "0000428266" "00426946" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 82 "{{screeningid}}" "{{geneid}}" "0000112779" "TREX1" "0000112780" "TREX1" "0000112781" "TREX1" "0000112782" "TREX1" "0000112783" "TREX1" "0000112784" "TREX1" "0000112785" "TREX1" "0000112786" "TREX1" "0000112787" "TREX1" "0000112788" "TREX1" "0000112789" "TREX1" "0000112790" "TREX1" "0000112791" "TREX1" "0000112792" "TREX1" "0000112793" "TREX1" "0000112794" "TREX1" "0000112795" "TREX1" "0000112796" "TREX1" "0000112797" "TREX1" "0000112798" "TREX1" "0000112799" "TREX1" "0000112800" "TREX1" "0000112801" "TREX1" "0000112802" "TREX1" "0000112803" "TREX1" "0000112804" "TREX1" "0000112805" "TREX1" "0000112806" "TREX1" "0000112807" "TREX1" "0000112808" "TREX1" "0000112809" "TREX1" "0000112810" "TREX1" "0000112811" "TREX1" "0000112812" "TREX1" "0000112813" "TREX1" "0000112814" "TREX1" "0000112815" "TREX1" "0000112816" "TREX1" "0000112817" "TREX1" "0000112818" "TREX1" "0000112819" "TREX1" "0000112820" "TREX1" "0000112821" "TREX1" "0000112822" "TREX1" "0000112823" "TREX1" "0000112824" "TREX1" "0000112825" "TREX1" "0000112826" "TREX1" "0000112827" "TREX1" "0000112828" "TREX1" "0000112829" "TREX1" "0000112830" "TREX1" "0000112831" "TREX1" "0000112832" "TREX1" "0000112833" "TREX1" "0000112834" "TREX1" "0000112835" "TREX1" "0000112836" "TREX1" "0000112837" "TREX1" "0000112838" "TREX1" "0000112839" "TREX1" "0000112840" "TREX1" "0000112841" "TREX1" "0000112843" "TREX1" "0000112844" "TREX1" "0000309174" "TREX1" "0000321189" "TREX1" "0000329581" "RPGR" "0000329581" "TREX1" "0000329605" "TREX1" "0000329648" "TREX1" "0000364580" "TREX1" "0000364598" "PAX2" "0000375318" "TREX1" "0000376070" "TREX1" "0000380601" "TREX1" "0000380635" "TREX1" "0000380647" "TREX1" "0000383334" "TREX1" "0000391282" "TREX1" "0000394161" "TREX1" "0000428266" "ABCA4" ## 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 = 230 "{{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}}" "0000181470" "21" "70" "3" "48508247" "48508249" "dup" "0" "01864" "TREX1_000062" "g.48508247_48508249dup" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.48466848_48466850dup" "" "likely pathogenic" "" "0000181471" "11" "50" "3" "48508028" "48508028" "subst" "7.74271E-5" "01864" "TREX1_000061" "g.48508028G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.48466629G>A" "" "VUS" "" "0000181472" "0" "95" "3" "0" "0" "" "0" "01534" "TREX1_000037" "g.?" "" "{PMID:de Vries 2010:19875384}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000181473" "0" "99" "3" "48508757" "48508757" "dup" "0" "01534" "TREX1_000001" "g.48508757dup" "" "{PMID:Richards 2007:17660820}" "" "" "Functional tests have been reported with variant" "Germline" "" "" "0" "" "" "g.48467358dup" "" "pathogenic" "" "0000181474" "0" "99" "3" "48508797" "48508800" "dup" "0" "01534" "TREX1_000002" "g.48508797_48508800dup" "" "{PMID:Richards 2007:17660820}" "" "743_746dupGTCA" "" "Germline" "" "" "0" "" "" "g.48467398_48467401dup" "" "pathogenic" "" "0000181475" "0" "99" "3" "48508760" "48508760" "dup" "0" "01534" "TREX1_000003" "g.48508760dup" "" "{PMID:Richards 2007:17660820}" "" "" "" "Germline" "" "" "0" "" "" "g.48467361dup" "" "pathogenic" "" "0000181476" "0" "99" "3" "48508904" "48508904" "dup" "0" "01534" "TREX1_000004" "g.48508904dup" "" "{PMID:Richards 2007:17660820}" "" "" "" "Germline" "" "" "0" "" "" "g.48467505dup" "" "pathogenic" "" "0000181477" "0" "99" "3" "48508912" "48508912" "dup" "0" "01534" "TREX1_000005" "g.48508912dup" "" "{PMID:Richards 2007:17660820}" "" "" "" "Germline" "" "" "0" "" "" "g.48467513dup" "" "pathogenic" "" "0000181478" "0" "99" "3" "48508395" "48508395" "subst" "0.000192484" "01534" "TREX1_000006" "g.48508395G>A" "" "{PMID:Crow 2006:16845398}" "" "" "Functional tests reported with variant" "Germline" "" "" "0" "" "" "g.48466996G>A" "" "pathogenic" "" "0000181479" "3" "95" "3" "48508395" "48508395" "subst" "0.000192484" "01536" "TREX1_000006" "g.48508395G>A" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.48466996G>A" "" "pathogenic" "" "0000181480" "0" "95" "3" "48508395" "48508395" "subst" "0.000192484" "01536" "TREX1_000006" "g.48508395G>A" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.48466996G>A" "" "pathogenic" "" "0000181481" "0" "95" "3" "48508395" "48508395" "subst" "0.000192484" "01536" "TREX1_000006" "g.48508395G>A" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.48466996G>A" "" "pathogenic" "" "0000181482" "1" "95" "3" "48508395" "48508395" "subst" "0.000192484" "01536" "TREX1_000006" "g.48508395G>A" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.48466996G>A" "" "pathogenic" "" "0000181483" "0" "95" "3" "48508395" "48508395" "subst" "0.000192484" "01536" "TREX1_000006" "g.48508395G>A" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.48466996G>A" "" "pathogenic" "" "0000181484" "1" "95" "3" "48508395" "48508395" "subst" "0.000192484" "01536" "TREX1_000006" "g.48508395G>A" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.48466996G>A" "" "pathogenic" "" "0000181485" "3" "95" "3" "48508395" "48508395" "subst" "0.000192484" "01536" "TREX1_000006" "g.48508395G>A" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.48466996G>A" "" "pathogenic" "" "0000181486" "11" "75" "3" "48508395" "48508395" "subst" "0.000192484" "01536" "TREX1_000006" "g.48508395G>A" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.48466996G>A" "" "likely pathogenic" "" "0000181487" "2" "99" "3" "48508395" "48508395" "subst" "0.000192484" "01534" "TREX1_000006" "g.48508395G>A" "" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "Functional tests reported with variant" "Germline" "" "" "0" "" "" "g.48466996G>A" "" "pathogenic" "" "0000181488" "0" "77" "3" "48508653" "48508655" "dup" "0" "01534" "TREX1_000007" "g.48508653_48508655dup" "" "{PMID:Crow 2006:16845398}" "" "598_600dupGAT" "" "Germline" "" "" "0" "" "" "g.48467254_48467256dup" "" "likely pathogenic" "" "0000181489" "0" "99" "3" "48508429" "48508429" "dup" "0" "01534" "TREX1_000008" "g.48508429dup" "" "{PMID:Rice 2007:17357087}" "" "" "" "Germline" "" "" "0" "" "" "g.48467030dup" "" "pathogenic" "" "0000181490" "0" "31" "3" "48508429" "48508429" "dup" "0" "01534" "TREX1_000008" "g.48508429dup" "" "{PMID:Rice 2007:17357087}" "" "" "" "Germline" "" "" "0" "" "" "g.48467030dup" "" "likely benign" "" "0000181491" "0" "99" "3" "48508544" "48508544" "subst" "0" "01534" "TREX1_000009" "g.48508544C>T" "" "{PMID:Crow 2006:16845398}" "" "" "Functional tests reported with this variant" "Germline" "" "" "0" "" "" "g.48467145C>T" "" "pathogenic" "" "0000181492" "0" "75" "3" "48508652" "48508652" "subst" "0" "01534" "TREX1_000011" "g.48508652G>A" "" "{PMID:Rice 2007:17357087}" "" "" "Functional tests reported with variant" "Germline" "" "" "0" "" "" "g.48467253G>A" "" "likely pathogenic" "" "0000181493" "0" "55" "3" "48508968" "48508968" "subst" "0.000118341" "01534" "TREX1_000012" "g.48508968A>G" "" "{PMID:Lee-Kirsch 2007:17660818}" "" "" "" "Germline" "" "" "0" "" "" "g.48467569A>G" "" "VUS" "" "0000181494" "0" "55" "3" "48508968" "48508968" "subst" "0.000118341" "01534" "TREX1_000012" "g.48508968A>G" "" "{PMID:Lee-Kirsch 2007:17660818}" "" "" "" "Germline" "" "" "0" "" "" "g.48467569A>G" "" "VUS" "" "0000181495" "0" "99" "3" "48508106" "48508106" "subst" "0" "01534" "TREX1_000013" "g.48508106G>A" "" "{PMID:Lee-Kirsch 2007:17440703}" "" "" "Functional tests reported with variant" "Germline" "" "" "0" "" "" "g.48466707G>A" "" "pathogenic" "" "0000181496" "21" "95" "3" "48508106" "48508106" "subst" "0" "01536" "TREX1_000013" "g.48508106G>A" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.48466707G>A" "" "pathogenic" "" "0000181497" "0" "95" "3" "48508106" "48508106" "subst" "0" "01536" "TREX1_000013" "g.48508106G>A" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.48466707G>A" "" "pathogenic" "" "0000181498" "0" "95" "3" "48508106" "48508106" "subst" "0" "01534" "TREX1_000013" "g.48508106G>A" "" "{PMID:Haaxma 2010:20799324}" "" "" "" "Germline" "" "" "0" "" "" "g.48466707G>A" "" "pathogenic" "" "0000181499" "0" "57" "3" "48508112" "48508112" "dup" "0" "01534" "TREX1_000014" "g.48508112dup" "" "{PMID:Crow 2006:16845398}" "" "58_59insG" "" "Germline" "" "" "0" "" "" "g.48466713dup" "" "VUS" "" "0000181500" "3" "95" "3" "48508112" "48508112" "dup" "0" "01536" "TREX1_000014" "g.48508112dup" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.48466713dup" "" "pathogenic" "" "0000181501" "1" "95" "3" "48508112" "48508112" "dup" "0" "01536" "TREX1_000014" "g.48508112dup" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.48466713dup" "" "pathogenic" "" "0000181502" "0" "95" "3" "48508112" "48508112" "dup" "0" "01536" "TREX1_000014" "g.48508112dup" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.48466713dup" "" "pathogenic" "" "0000181503" "0" "99" "3" "48508656" "48508656" "subst" "0" "01534" "TREX1_000015" "g.48508656T>A" "" "{PMID:Crow 2006:16845398}" "" "" "Functional tests reported with this variant" "Germline" "" "" "0" "" "" "g.48467257T>A" "" "pathogenic" "" "0000181504" "0" "57" "3" "48508419" "48508419" "subst" "0" "01534" "TREX1_000016" "g.48508419T>C" "" "{PMID:Rice 2007:17846997}" "" "" "" "Germline" "" "" "0" "" "" "g.48467020T>C" "" "VUS" "" "0000181505" "0" "55" "3" "48508961" "48508961" "subst" "1.63043E-5" "01534" "TREX1_000017" "g.48508961A>C" "" "{PMID:Rice 2007:17846997}" "" "" "" "Germline" "" "" "0" "" "" "g.48467562A>C" "" "VUS" "" "0000181506" "1" "75" "3" "48508961" "48508961" "subst" "1.63043E-5" "01536" "TREX1_000017" "g.48508961A>C" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.48467562A>C" "" "likely pathogenic" "" "0000181507" "0" "55" "3" "48508266" "48508267" "dup" "0" "01534" "TREX1_000018" "g.48508266_48508267dup" "" "{PMID:Rice 2007:17846997}" "" "212_213dupTG" "" "Germline" "" "" "0" "" "" "g.48466867_48466868dup" "" "VUS" "" "0000181508" "3" "95" "3" "48508266" "48508267" "dup" "0" "01536" "TREX1_000018" "g.48508266_48508267dup" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "212_213dupTG" "" "Germline" "" "" "0" "" "" "g.48466867_48466868dup" "" "pathogenic" "" "0000181509" "2" "95" "3" "48508290" "48508297" "dup" "0" "01536" "TREX1_000032" "g.48508290_48508297dup" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.48466891_48466898dup" "" "pathogenic" "" "0000181510" "0" "57" "3" "48508420" "48508422" "dup" "0" "01534" "TREX1_000019" "g.48508420_48508422dup" "" "{PMID:Rice 2007:17846997}" "" "366_368dupGGC" "" "Germline" "" "" "0" "" "" "g.48467021_48467023dup" "" "VUS" "" "0000181511" "0" "57" "3" "48508447" "48508462" "dup" "0" "01534" "TREX1_000020" "g.48508447_48508462dup" "" "{PMID:Rice 2007:17846997}" "" "" "" "Germline" "" "" "0" "" "" "g.48467048_48467063dup" "" "VUS" "" "0000181512" "0" "57" "3" "48508663" "48508716" "dup" "0" "01534" "TREX1_000021" "g.48508663_48508716dup" "" "{PMID:Rice 2007:17846997}" "" "" "" "Germline" "" "" "0" "" "" "g.48467264_48467317dup" "" "VUS" "" "0000181513" "0" "95" "3" "48508663" "48508716" "dup" "0" "01534" "TREX1_000021" "g.48508663_48508716dup" "" "{PMID:Rice 2007:17846997}" "" "" "" "Germline" "" "" "0" "" "" "g.48467264_48467317dup" "" "pathogenic" "" "0000181514" "0" "55" "3" "48508679" "48508682" "dup" "0" "01534" "TREX1_000022" "g.48508679_48508682dup" "" "{PMID:Rice 2007:17846997}" "" "625_628dupCAGT" "" "Germline" "" "" "0" "" "" "g.48467280_48467283dup" "" "VUS" "" "0000181515" "0" "57" "3" "48508922" "48508939" "del" "0" "01534" "TREX1_000023" "g.48508922_48508939del" "" "{PMID:Rice 2007:17846997}" "" "" "" "Germline" "" "" "0" "" "" "g.48467523_48467540del" "" "VUS" "" "0000181516" "3" "95" "3" "48508922" "48508939" "del" "0" "01536" "TREX1_000023" "g.48508922_48508939del" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.48467523_48467540del" "" "pathogenic" "" "0000181517" "0" "55" "3" "48508451" "48508451" "del" "0" "01534" "TREX1_000024" "g.48508451del" "" "{PMID:Rice 2007:17846997}" "" "" "" "Germline" "" "" "0" "" "" "g.48467052del" "" "VUS" "" "0000181518" "0" "55" "3" "48508554" "48508554" "del" "4.078E-6" "01534" "TREX1_000025" "g.48508554del" "" "{PMID:Rice 2007:17846997}" "" "" "" "Germline" "" "" "0" "" "" "g.48467155del" "" "VUS" "" "0000181519" "0" "55" "3" "48508527" "48508527" "subst" "4.48529E-5" "01534" "TREX1_000026" "g.48508527C>T" "" "{PMID:Lee-Kirsch 2007:17660818}" "" "" "" "Germline" "" "" "0" "" "" "g.48467128C>T" "" "VUS" "" "0000181520" "0" "99" "3" "48508689" "48508689" "del" "0" "01534" "TREX1_000027" "g.48508689del" "" "{PMID:Lee-Kirsch 2007:17660818}" "" "634delC" "Functional tests reported with this variant" "Germline" "" "" "0" "" "" "g.48467290del" "" "pathogenic" "" "0000181521" "0" "95" "3" "48508689" "48508689" "del" "0" "01534" "TREX1_000027" "g.48508689del" "" "{PMID:Ramantani 2010:20131292}" "" "" "" "Germline" "" "" "0" "" "" "g.48467290del" "" "pathogenic" "" "0000181522" "0" "55" "3" "48508733" "48508733" "subst" "0.000113834" "01534" "TREX1_000028" "g.48508733G>A" "" "{PMID:Lee-Kirsch 2007:17660818}" "" "" "" "Germline" "" "" "0" "" "" "g.48467334G>A" "" "VUS" "" "0000181523" "0" "55" "3" "48508774" "48508774" "subst" "0.000190953" "01534" "TREX1_000029" "g.48508774G>C" "" "{PMID:Lee-Kirsch 2007:17660818}" "" "" "" "Germline" "" "" "0" "" "" "g.48467375G>C" "" "VUS" "" "0000181524" "0" "99" "3" "48508866" "48508867" "dup" "0" "01534" "TREX1_000030" "g.48508866_48508867dup" "" "{PMID:Lee-Kirsch 2007:17660818}" "" "" "Functional tests reported with this variant" "Germline" "" "" "0" "" "" "g.48467467_48467468dup" "" "pathogenic" "" "0000181525" "0" "55" "3" "48508923" "48508923" "subst" "5.69471E-5" "01534" "TREX1_000031" "g.48508923C>T" "" "{PMID:Lee-Kirsch 2007:17660818}" "" "" "" "Germline" "" "" "0" "" "" "g.48467524C>T" "" "VUS" "" "0000181526" "0" "55" "3" "48508971" "48508971" "subst" "4.08547E-6" "01534" "TREX1_000033" "g.48508971G>C" "" "{PMID:Lee-Kirsch 2007:17660818}" "" "" "" "Germline" "" "" "0" "" "" "g.48467572G>C" "" "VUS" "" "0000181527" "0" "95" "3" "48508204" "48508205" "del" "0" "01534" "TREX1_000036" "g.48508204_48508205del" "" "{PMID:Ramantani 2010:20131292}" "" "150_151delTC" "" "Germline" "" "" "0" "" "" "g.48466805_48466806del" "" "pathogenic" "" "0000181528" "3" "95" "3" "48508204" "48508205" "del" "0" "01536" "TREX1_000036" "g.48508204_48508205del" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "150_151delTC" "" "Germline" "" "" "0" "" "" "g.48466805_48466806del" "" "pathogenic" "" "0000181529" "0" "95" "3" "48508554" "48508554" "del" "4.078E-6" "01534" "TREX1_000038" "g.48508554del" "" "{PMID:Ramantani 2010:20131292}" "" "" "" "Germline" "" "" "0" "" "" "g.48467155del" "" "pathogenic" "" "0000181530" "0" "95" "3" "48508646" "48508646" "subst" "4.06785E-6" "01534" "TREX1_000039" "g.48508646G>A" "" "{PMID:Ramantani 2010:20131292}" "" "" "" "Germline" "" "" "0" "" "" "g.48467247G>A" "" "pathogenic" "" "0000181531" "0" "95" "3" "48508652" "48508652" "subst" "0" "01534" "TREX1_000040" "g.48508652G>C" "" "{PMID:Ramantani 2010:20131292}" "" "" "" "Germline" "" "" "0" "" "" "g.48467253G>C" "" "pathogenic" "" "0000181532" "0" "95" "3" "48508922" "48508939" "del" "0" "01534" "TREX1_000043" "g.48508922_48508939del" "" "{PMID:Ramantani 2010:20131292}" "" "859_876del18" "" "Germline" "" "" "0" "" "" "g.48467523_48467540del" "" "pathogenic" "" "0000181533" "0" "95" "3" "48509033" "48509033" "del" "0" "01534" "TREX1_000044" "g.48509033delC" "" "{PMID:Lee-Kirsch 2007:17660818}" "" "" "Variant originally reported as \"c.*979delC\" and \"p. 3\'UTR\r\nVariant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000181534" "0" "95" "3" "48508961" "48508964" "dup" "0" "01534" "TREX1_000045" "g.48508961_48508964dup" "" "{PMID:Gruver 2011:21131853}" "" "907_910dupGTCA" "" "Germline" "" "" "0" "" "" "g.48467562_48467565dup" "" "pathogenic" "" "0000181535" "2" "95" "3" "48508294" "48508294" "dup" "0" "01536" "TREX1_000047" "g.48508294dup" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.48466895dup" "" "pathogenic" "" "0000181536" "0" "95" "3" "48508747" "48508747" "dup" "0" "01536" "TREX1_000048" "g.48508747dup" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.48467348dup" "" "pathogenic" "" "0000181537" "0" "75" "3" "48508149" "48508149" "subst" "4.06283E-6" "01536" "TREX1_000049" "g.48508149C>G" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "95C>G" "" "Germline" "" "" "0" "" "" "g.48466750C>G" "" "likely pathogenic" "" "0000181538" "0" "75" "3" "48508713" "48508713" "subst" "0" "01536" "TREX1_000051" "g.48508713A>G" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.48467314A>G" "" "likely pathogenic" "" "0000181539" "2" "95" "3" "48508469" "48508470" "del" "0" "01536" "TREX1_000052" "g.48508469_48508470del" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "415_416delGC" "" "Germline" "" "" "0" "" "" "g.48467070_48467071del" "" "pathogenic" "" "0000181540" "1" "35" "3" "48508429" "48508429" "subst" "0" "01536" "TREX1_000053" "g.48508429T>C" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "Silent mutation p.(Asn124Asn)" "Germline" "" "" "0" "" "" "g.48467030T>C" "" "likely benign" "" "0000181541" "2" "95" "3" "48508198" "48508198" "dup" "0" "01536" "TREX1_000054" "g.48508198dup" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "144dupC" "" "Germline" "" "" "0" "" "" "g.48466799dup" "" "pathogenic" "" "0000181542" "0" "55" "3" "48508607" "48508607" "subst" "1.2213E-5" "01536" "TREX1_000055" "g.48508607C>T" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.48467208C>T" "" "VUS" "" "0000181543" "0" "55" "3" "48508793" "48508793" "subst" "0.000105617" "01534" "TREX1_000056" "g.48508793G>C" "" "{PMID:Lee-Kirsch 2007:17660818}" "" "" "" "Germline" "" "" "0" "" "" "g.48467394G>C" "" "VUS" "" "0000181544" "1" "77" "3" "48508092" "48508092" "subst" "0" "01534" "TREX1_000057" "g.48508092C>A" "" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.48466693C>A" "" "likely pathogenic" "" "0000181545" "1" "77" "3" "48508912" "48508912" "del" "0" "01534" "TREX1_000058" "g.48508912del" "" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.48467513del" "" "likely pathogenic" "" "0000181546" "1" "77" "3" "48508521" "48508521" "del" "0" "01534" "TREX1_000059" "g.48508521del" "" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.48467122del" "" "likely pathogenic" "" "0000246202" "0" "50" "3" "48508968" "48508968" "subst" "0.000118341" "02330" "TREX1_000012" "g.48508968A>G" "" "" "" "TREX1(NM_007248.5):c.884A>G (p.Y295C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48467569A>G" "" "VUS" "" "0000254742" "0" "30" "3" "48506389" "48506389" "subst" "0.00169362" "01943" "ATRIP_000007" "g.48506389A>T" "" "" "" "ATRIP(NM_130384.3):c.2215A>T (p.M739L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48464990A>T" "" "likely benign" "" "0000254955" "0" "30" "3" "48507910" "48507910" "subst" "1.64136E-5" "01943" "ATRIP_000010" "g.48507910A>G" "" "" "" "ATRIP(NM_130384.3):c.*957A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48466511A>G" "" "likely benign" "" "0000255374" "0" "70" "3" "48500756" "48500756" "subst" "0" "01943" "ATRIP_000002" "g.48500756A>G" "" "" "" "ATRIP(NM_001271023.1):c.551-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48459357A>G" "" "likely pathogenic" "" "0000263416" "0" "30" "3" "48501929" "48501929" "subst" "0.00161795" "01943" "ATRIP_000003" "g.48501929C>T" "" "" "" "ATRIP(NM_130384.3):c.1476C>T (p.V492=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48460530C>T" "" "likely benign" "" "0000263417" "0" "50" "3" "48502077" "48502077" "subst" "2.03036E-5" "01943" "ATRIP_000004" "g.48502077C>T" "" "" "" "ATRIP(NM_130384.3):c.1624C>T (p.L542F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48460678C>T" "" "VUS" "" "0000263418" "0" "30" "3" "48506049" "48506049" "subst" "0.000101523" "01943" "ATRIP_000005" "g.48506049G>C" "" "" "" "ATRIP(NM_130384.3):c.2043G>C (p.Q681H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48464650G>C" "" "likely benign" "" "0000312039" "0" "10" "3" "48508252" "48508252" "subst" "0.00120378" "02325" "ATRIP_000014" "g.48508252G>A" "" "" "" "TREX1(NM_007248.4):c.168G>A (p.K56=), TREX1(NM_007248.5):c.168G>A (p.K56=), TREX1(NM_033629.6):c.198G>A (p.K66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48466853G>A" "" "benign" "" "0000312040" "0" "30" "3" "48508366" "48508366" "subst" "0.000102051" "02325" "ATRIP_000017" "g.48508366G>C" "" "" "" "TREX1(NM_033629.6):c.312G>C (p.L104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48466967G>C" "" "likely benign" "" "0000312041" "0" "10" "3" "48508516" "48508516" "subst" "0.00151962" "02325" "ATRIP_000018" "g.48508516T>C" "" "" "" "TREX1(NM_007248.4):c.432T>C (p.D144=), TREX1(NM_007248.5):c.432T>C (p.D144=), TREX1(NM_033629.6):c.462T>C (p.D154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48467117T>C" "" "benign" "" "0000312042" "0" "10" "3" "48508585" "48508585" "subst" "0.367297" "02325" "ATRIP_000021" "g.48508585C>T" "" "" "" "TREX1(NM_007248.4):c.501C>T (p.Y167=), TREX1(NM_007248.5):c.501C>T (p.Y167=), TREX1(NM_033629.6):c.531C>T (p.Y177=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48467186C>T" "" "benign" "" "0000314819" "0" "30" "3" "48508774" "48508774" "subst" "2.03141E-5" "02326" "ATRIP_000023" "g.48508774G>A" "" "" "" "TREX1(NM_007248.4):c.690G>A (p.R230=), TREX1(NM_007248.5):c.690G>A (p.R230=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48467375G>A" "" "likely benign" "" "0000317028" "0" "10" "3" "48507872" "48507872" "subst" "2.05312E-5" "01943" "ATRIP_000008" "g.48507872C>T" "" "" "" "ATRIP(NM_130384.3):c.*919C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48466473C>T" "" "benign" "" "0000317029" "0" "10" "3" "48508966" "48508966" "subst" "0.00924361" "01943" "ATRIP_000025" "g.48508966G>A" "" "" "" "TREX1(NM_007248.2):c.882G>A (p.(Leu294=)), TREX1(NM_007248.4):c.882G>A (p.L294=), TREX1(NM_007248.5):c.882G>A (p.L294=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48467567G>A" "" "benign" "" "0000317030" "0" "50" "3" "48508086" "48508086" "subst" "8.12526E-6" "01943" "ATRIP_000012" "g.48508086T>C" "" "" "" "TREX1(NM_007248.2):c.2T>C (p.(Met1?)), TREX1(NM_007248.4):c.2T>C (p.M1?), TREX1(NM_033629.6):c.32T>C (p.M11T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48466687T>C" "" "VUS" "" "0000317032" "0" "50" "3" "48508266" "48508266" "subst" "1.22129E-5" "01943" "ATRIP_000015" "g.48508266T>C" "" "" "" "TREX1(NM_007248.4):c.182T>C (p.V61A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48466867T>C" "" "VUS" "" "0000317033" "0" "90" "3" "48508348" "48508348" "dup" "0" "01943" "ATRIP_000016" "g.48508348dup" "" "" "" "TREX1(NM_007248.4):c.264dupA (p.C89Mfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48466949dup" "" "pathogenic" "" "0000317034" "0" "50" "3" "48507894" "48507894" "subst" "0.00012315" "01943" "ATRIP_000009" "g.48507894G>A" "" "" "" "ATRIP(NM_130384.3):c.*941G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48466495G>A" "" "VUS" "" "0000317035" "0" "30" "3" "48508540" "48508540" "subst" "0.000126418" "01943" "ATRIP_000019" "g.48508540G>A" "" "" "" "TREX1(NM_007248.4):c.456G>A (p.L152=), TREX1(NM_007248.5):c.456G>A (p.L152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48467141G>A" "" "likely benign" "" "0000317036" "0" "30" "3" "48508555" "48508555" "subst" "1.22353E-5" "01943" "ATRIP_000020" "g.48508555C>T" "" "" "" "TREX1(NM_007248.4):c.471C>T (p.S157=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48467156C>T" "" "likely benign" "" "0000317037" "0" "10" "3" "48508585" "48508585" "subst" "0.367297" "01943" "ATRIP_000021" "g.48508585C>T" "" "" "" "TREX1(NM_007248.4):c.501C>T (p.Y167=), TREX1(NM_007248.5):c.501C>T (p.Y167=), TREX1(NM_033629.6):c.531C>T (p.Y177=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48467186C>T" "" "benign" "" "0000317038" "0" "50" "3" "48508721" "48508721" "subst" "1.62649E-5" "01943" "ATRIP_000022" "g.48508721G>A" "" "" "" "TREX1(NM_007248.4):c.637G>A (p.A213T), TREX1(NM_033629.6):c.667G>A (p.A223T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48467322G>A" "" "VUS" "" "0000317039" "0" "50" "3" "48508793" "48508793" "subst" "0.000105617" "01943" "TREX1_000056" "g.48508793G>C" "" "" "" "TREX1(NM_007248.4):c.709G>C (p.A237P), TREX1(NM_007248.5):c.709G>C (p.A237P), TREX1(NM_033629.6):c.739G>C (p.(Ala247Pro), p.A247P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48467394G>C" "" "VUS" "" "0000317040" "0" "70" "3" "48508836" "48508836" "del" "0" "01943" "ATRIP_000024" "g.48508836del" "" "" "" "TREX1(NM_007248.4):c.752delG (p.S251Ifs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48467437del" "" "likely pathogenic" "" "0000329382" "0" "50" "3" "48491477" "48491477" "subst" "0" "01804" "ATRIP_000001" "g.48491477G>A" "" "" "" "ATRIP(NM_032166.3):c.282G>A (p.(Met94Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48450071G>A" "" "VUS" "" "0000329383" "0" "50" "3" "48506237" "48506237" "subst" "0" "01804" "ATRIP_000006" "g.48506237G>A" "" "" "" "ATRIP(NM_001271022.1):c.1682G>A (p.(Arg561Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48464838G>A" "" "VUS" "" "0000329386" "0" "50" "3" "48510551" "48510553" "del" "0" "01804" "SHISA5_000001" "g.48510551_48510553del" "" "" "" "SHISA5(NM_001272065.1):c.658_660del (p.(Pro220del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48469152_48469154del" "" "VUS" "" "0000341038" "0" "10" "3" "48508585" "48508585" "subst" "0.367297" "02327" "ATRIP_000021" "g.48508585C>T" "" "" "" "TREX1(NM_007248.4):c.501C>T (p.Y167=), TREX1(NM_007248.5):c.501C>T (p.Y167=), TREX1(NM_033629.6):c.531C>T (p.Y177=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48467186C>T" "" "benign" "" "0000342056" "0" "70" "3" "48508395" "48508395" "subst" "0.000192484" "02327" "TREX1_000006" "g.48508395G>A" "" "" "" "TREX1(NM_007248.2):c.311G>A (p.(Arg104His)), TREX1(NM_007248.4):c.311G>A (p.R104H), TREX1(NM_007248.5):c.311G>A (p.R104H), TREX1(NM_033629.6):c.341..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48466996G>A" "" "likely pathogenic" "" "0000442474" "0" "90" "3" "48508689" "48508689" "del" "0" "01164" "TREX1_000063" "g.48508689del" "" "" "" "" "ACMG grading: PVS1,PP5,PM2; reported in Lee-Kirsch 2007. NatGenet 39: 1065; Rice 2013. Lancet Neurol 12: 1159" "Germline" "" "rs756664985" "0" "" "" "g.48467290del" "" "pathogenic" "ACMG" "0000520067" "0" "30" "3" "48506279" "48506279" "subst" "0.00620495" "01804" "ATRIP_000028" "g.48506279G>A" "" "" "" "ATRIP(NM_001271022.1):c.1724G>A (p.(Arg575Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48464880G>A" "" "likely benign" "" "0000520068" "0" "10" "3" "48507667" "48507667" "subst" "0" "02330" "ATRIP_000029" "g.48507667T>C" "" "" "" "ATRIP-TREX1(NR_153405.1):n.3242T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48466268T>C" "" "benign" "" "0000520069" "0" "30" "3" "48507934" "48507934" "subst" "0.000443186" "01943" "ATRIP_000030" "g.48507934G>T" "" "" "" "ATRIP(NM_130384.3):c.*981G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48466535G>T" "" "likely benign" "" "0000520070" "0" "50" "3" "48507959" "48507959" "subst" "0.000151814" "01943" "ATRIP_000031" "g.48507959C>G" "" "" "" "ATRIP(NM_130384.3):c.*1006C>G, TREX1(NM_016381.4):c.70C>G (p.(Pro24Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48466560C>G" "" "VUS" "" "0000520071" "0" "50" "3" "48507959" "48507959" "subst" "0.000151814" "01804" "ATRIP_000031" "g.48507959C>G" "" "" "" "ATRIP(NM_130384.3):c.*1006C>G, TREX1(NM_016381.4):c.70C>G (p.(Pro24Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48466560C>G" "" "VUS" "" "0000520072" "0" "30" "3" "48507964" "48507964" "subst" "0" "01943" "ATRIP_000032" "g.48507964C>A" "" "" "" "ATRIP(NM_130384.3):c.*1011C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48466565C>A" "" "likely benign" "" "0000520073" "0" "50" "3" "48508028" "48508028" "subst" "7.74271E-5" "01943" "TREX1_000061" "g.48508028G>A" "" "" "" "ATRIP(NM_130384.3):c.*1075G>A, TREX1(NM_033629.6):c.-26-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48466629G>A" "" "VUS" "" "0000520074" "0" "30" "3" "48508053" "48508053" "subst" "0" "01943" "ATRIP_000033" "g.48508053C>T" "" "" "" "ATRIP-TREX1(NR_153405.1):n.3308C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48466654C>T" "" "likely benign" "" "0000520075" "0" "50" "3" "48508055" "48508055" "subst" "1.62636E-5" "02325" "ATRIP_000034" "g.48508055A>G" "" "" "" "TREX1(NM_033629.6):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48466656A>G" "" "VUS" "" "0000520076" "0" "30" "3" "48508196" "48508196" "subst" "2.03191E-5" "01943" "ATRIP_000035" "g.48508196C>T" "" "" "" "TREX1(NM_007248.4):c.112C>T (p.P38S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48466797C>T" "" "likely benign" "" "0000520077" "0" "70" "3" "48508198" "48508198" "dup" "0" "01943" "ATRIP_000036" "g.48508198dup" "" "" "" "TREX1(NM_007248.4):c.114dupC (p.T39Hfs*53), TREX1(NM_007248.5):c.114dupC (p.T39Hfs*53)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48466799dup" "" "likely pathogenic" "" "0000520078" "0" "30" "3" "48508199" "48508199" "subst" "0" "01943" "ATRIP_000037" "g.48508199A>C" "" "" "" "TREX1(NM_007248.4):c.115A>C (p.T39P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48466800A>C" "" "likely benign" "" "0000520079" "0" "10" "3" "48508252" "48508252" "subst" "0.00120378" "01943" "ATRIP_000014" "g.48508252G>A" "" "" "" "TREX1(NM_007248.4):c.168G>A (p.K56=), TREX1(NM_007248.5):c.168G>A (p.K56=), TREX1(NM_033629.6):c.198G>A (p.K66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48466853G>A" "" "benign" "" "0000520080" "0" "30" "3" "48508393" "48508393" "subst" "0.000211769" "01943" "ATRIP_000038" "g.48508393G>A" "" "" "" "TREX1(NM_007248.4):c.309G>A (p.R103=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48466994G>A" "" "likely benign" "" "0000520081" "0" "70" "3" "48508395" "48508395" "subst" "0.000192484" "02330" "TREX1_000006" "g.48508395G>A" "" "" "" "TREX1(NM_007248.2):c.311G>A (p.(Arg104His)), TREX1(NM_007248.4):c.311G>A (p.R104H), TREX1(NM_007248.5):c.311G>A (p.R104H), TREX1(NM_033629.6):c.341..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48466996G>A" "" "likely pathogenic" "" "0000520082" "0" "90" "3" "48508395" "48508395" "subst" "0.000192484" "01943" "TREX1_000006" "g.48508395G>A" "" "" "" "TREX1(NM_007248.2):c.311G>A (p.(Arg104His)), TREX1(NM_007248.4):c.311G>A (p.R104H), TREX1(NM_007248.5):c.311G>A (p.R104H), TREX1(NM_033629.6):c.341..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48466996G>A" "" "pathogenic" "" "0000520083" "0" "90" "3" "48508395" "48508395" "subst" "0.000192484" "02325" "TREX1_000006" "g.48508395G>A" "" "" "" "TREX1(NM_007248.2):c.311G>A (p.(Arg104His)), TREX1(NM_007248.4):c.311G>A (p.R104H), TREX1(NM_007248.5):c.311G>A (p.R104H), TREX1(NM_033629.6):c.341..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48466996G>A" "" "pathogenic" "" "0000520084" "0" "70" "3" "48508395" "48508395" "subst" "0.000192484" "02329" "TREX1_000006" "g.48508395G>A" "" "" "" "TREX1(NM_007248.2):c.311G>A (p.(Arg104His)), TREX1(NM_007248.4):c.311G>A (p.R104H), TREX1(NM_007248.5):c.311G>A (p.R104H), TREX1(NM_033629.6):c.341..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48466996G>A" "" "likely pathogenic" "" "0000520085" "0" "30" "3" "48508441" "48508441" "subst" "4.47162E-5" "02330" "ATRIP_000039" "g.48508441C>T" "" "" "" "TREX1(NM_007248.4):c.357C>T (p.Y119=), TREX1(NM_007248.5):c.357C>T (p.Y119=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48467042C>T" "" "likely benign" "" "0000520086" "0" "30" "3" "48508441" "48508441" "subst" "4.47162E-5" "01943" "ATRIP_000039" "g.48508441C>T" "" "" "" "TREX1(NM_007248.4):c.357C>T (p.Y119=), TREX1(NM_007248.5):c.357C>T (p.Y119=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48467042C>T" "" "likely benign" "" "0000520087" "0" "50" "3" "48508461" "48508461" "subst" "0" "01943" "ATRIP_000040" "g.48508461C>T" "" "" "" "TREX1(NM_007248.4):c.377C>T (p.A126V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48467062C>T" "" "VUS" "" "0000520088" "0" "10" "3" "48508516" "48508516" "subst" "0.00151962" "01943" "ATRIP_000018" "g.48508516T>C" "" "" "" "TREX1(NM_007248.4):c.432T>C (p.D144=), TREX1(NM_007248.5):c.432T>C (p.D144=), TREX1(NM_033629.6):c.462T>C (p.D154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48467117T>C" "" "benign" "" "0000520089" "0" "70" "3" "48508544" "48508544" "subst" "0" "01804" "TREX1_000009" "g.48508544C>T" "" "" "" "TREX1(NM_016381.4):c.655C>T (p.(Arg219Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48467145C>T" "" "likely pathogenic" "" "0000520090" "0" "50" "3" "48508677" "48508677" "subst" "7.72609E-5" "01943" "ATRIP_000041" "g.48508677G>C" "" "" "" "TREX1(NM_007248.2):c.593G>C (p.(Cys198Ser)), TREX1(NM_007248.4):c.593G>C (p.C198S), TREX1(NM_033629.6):c.623G>C (p.C208S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48467278G>C" "" "VUS" "" "0000520091" "0" "10" "3" "48508733" "48508733" "subst" "0.000113834" "02330" "TREX1_000028" "g.48508733G>A" "" "" "" "TREX1(NM_007248.4):c.649G>A (p.G217S), TREX1(NM_007248.5):c.649G>A (p.G217S), TREX1(NM_033629.6):c.679G>A (p.(Gly227Ser), p.G227S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48467334G>A" "" "benign" "" "0000520092" "0" "30" "3" "48508733" "48508733" "subst" "0.000113834" "01943" "TREX1_000028" "g.48508733G>A" "" "" "" "TREX1(NM_007248.4):c.649G>A (p.G217S), TREX1(NM_007248.5):c.649G>A (p.G217S), TREX1(NM_033629.6):c.679G>A (p.(Gly227Ser), p.G227S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48467334G>A" "" "likely benign" "" "0000520093" "0" "10" "3" "48508774" "48508774" "subst" "2.03141E-5" "02330" "ATRIP_000023" "g.48508774G>A" "" "" "" "TREX1(NM_007248.4):c.690G>A (p.R230=), TREX1(NM_007248.5):c.690G>A (p.R230=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48467375G>A" "" "benign" "" "0000520094" "0" "30" "3" "48508774" "48508774" "subst" "2.03141E-5" "01943" "ATRIP_000023" "g.48508774G>A" "" "" "" "TREX1(NM_007248.4):c.690G>A (p.R230=), TREX1(NM_007248.5):c.690G>A (p.R230=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48467375G>A" "" "likely benign" "" "0000520095" "0" "30" "3" "48508805" "48508805" "subst" "0" "01804" "ATRIP_000042" "g.48508805A>G" "" "" "" "TREX1(NM_033629.3):c.751A>G (p.(Thr251Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48467406A>G" "" "likely benign" "" "0000520096" "0" "30" "3" "48508851" "48508851" "subst" "0.00167318" "02330" "ATRIP_000043" "g.48508851A>G" "" "" "" "ATRIP(NM_001271023.2):c.*1898A>G, TREX1(NM_007248.2):c.767A>G (p.(Glu256Gly)), TREX1(NM_007248.4):c.767A>G (p.E256G), TREX1(NM_007248.5):c.767A>G ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48467452A>G" "" "likely benign" "" "0000520097" "0" "50" "3" "48508851" "48508851" "subst" "0.00167318" "01943" "ATRIP_000043" "g.48508851A>G" "" "" "" "ATRIP(NM_001271023.2):c.*1898A>G, TREX1(NM_007248.2):c.767A>G (p.(Glu256Gly)), TREX1(NM_007248.4):c.767A>G (p.E256G), TREX1(NM_007248.5):c.767A>G ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48467452A>G" "" "VUS" "" "0000520098" "0" "30" "3" "48508851" "48508851" "subst" "0.00167318" "01804" "ATRIP_000043" "g.48508851A>G" "" "" "" "ATRIP(NM_001271023.2):c.*1898A>G, TREX1(NM_007248.2):c.767A>G (p.(Glu256Gly)), TREX1(NM_007248.4):c.767A>G (p.E256G), TREX1(NM_007248.5):c.767A>G ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48467452A>G" "" "likely benign" "" "0000520099" "0" "10" "3" "48508851" "48508851" "subst" "0.00167318" "02326" "ATRIP_000043" "g.48508851A>G" "" "" "" "ATRIP(NM_001271023.2):c.*1898A>G, TREX1(NM_007248.2):c.767A>G (p.(Glu256Gly)), TREX1(NM_007248.4):c.767A>G (p.E256G), TREX1(NM_007248.5):c.767A>G ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48467452A>G" "" "benign" "" "0000520100" "0" "90" "3" "48508922" "48508939" "del" "0" "02326" "TREX1_000023" "g.48508922_48508939del" "" "" "" "TREX1(NM_007248.5):c.838_855delCCACTGGGTCTGCTGGCC (p.P280_A285del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48467523_48467540del" "" "pathogenic" "" "0000608759" "0" "50" "3" "48508970" "48508970" "subst" "0" "01943" "ATRIP_000044" "g.48508970G>A" "" "" "" "TREX1(NM_033629.6):c.916G>A (p.G306R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48467571G>A" "" "VUS" "" "0000653521" "0" "90" "3" "48508395" "48508395" "subst" "0.000192484" "01164" "TREX1_000006" "g.48508395G>A" "" "" "" "" "ACMG: PS3,PM2,PM3,PP1,PP3; no second variant detected in TREX1, CNV negative; Crow et al. 2006. Nature genetics 8: 917; de Silva et al. 2007. J Biol Chem 14: 10537" "Germline" "" "rs72556554" "0" "" "" "g.48466996G>A" "" "pathogenic" "ACMG" "0000654978" "0" "50" "3" "48488452" "48488452" "subst" "9.35435E-5" "01943" "ATRIP_000045" "g.48488452C>T" "" "" "" "ATRIP(NM_130384.3):c.203C>T (p.S68L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48447048C>T" "" "VUS" "" "0000654979" "0" "50" "3" "48508910" "48508910" "subst" "0" "01943" "ATRIP_000046" "g.48508910G>A" "" "" "" "TREX1(NM_007248.4):c.826G>A (p.G276R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48467511G>A" "" "VUS" "" "0000654980" "0" "50" "3" "48508989" "48508989" "subst" "4.10904E-6" "02325" "ATRIP_000047" "g.48508989C>G" "" "" "" "TREX1(NM_033629.6):c.935C>G (p.P312R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48467590C>G" "" "VUS" "" "0000677020" "0" "30" "3" "48505204" "48505204" "subst" "2.84259E-5" "01943" "ATRIP_000048" "g.48505204C>T" "" "" "" "ATRIP(NM_130384.3):c.1806C>T (p.S602=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677021" "0" "50" "3" "48508097" "48508099" "dup" "0" "01943" "ATRIP_000049" "g.48508097_48508099dup" "" "" "" "TREX1(NM_007248.4):c.13_15dupATC (p.I5dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677022" "0" "50" "3" "48508442" "48508442" "subst" "0" "01943" "ATRIP_000050" "g.48508442G>A" "" "" "" "TREX1(NM_007248.4):c.358G>A (p.D120N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000683674" "3" "90" "3" "48508344" "48508344" "subst" "6.54922E-5" "00006" "TREX1_000064" "g.48508344G>A" "" "{PMID:Mahler 2019:31056085}" "" "290G>A (Arg97His)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000689100" "0" "90" "3" "48508198" "48508198" "del" "0" "01943" "ATRIP_000051" "g.48508198del" "" "" "" "TREX1(NM_007248.4):c.114delC (p.T39Pfs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000689101" "0" "30" "3" "48508471" "48508471" "subst" "3.25428E-5" "01943" "ATRIP_000052" "g.48508471T>C" "" "" "" "TREX1(NM_007248.4):c.387T>C (p.A129=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689102" "0" "30" "3" "48508540" "48508540" "subst" "0.000126418" "02326" "ATRIP_000019" "g.48508540G>A" "" "" "" "TREX1(NM_007248.4):c.456G>A (p.L152=), TREX1(NM_007248.5):c.456G>A (p.L152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000703994" "0" "50" "3" "48508436" "48508436" "subst" "2.43898E-5" "01164" "TREX1_000065" "g.48508436C>T" "" "" "" "" "ACMG: PM2, PP3: Class 3" "Germline" "?" "" "" "" "" "" "{CV:000535847}" "VUS" "ACMG" "0000713953" "1" "90" "3" "48508635" "48508635" "subst" "0" "00000" "TREX1_000068" "g.48508635C>G" "" "{PMID:Zhou 2018:29453956}" "" "581C>T (S194W)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000713996" "1" "50" "3" "48508149" "48508149" "subst" "2.03141E-5" "00000" "TREX1_000066" "g.48508149C>T" "" "{PMID:Zhou 2018:29453956}" "" "95C>T (T32M)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000713999" "1" "70" "3" "48508346" "48508346" "dup" "0" "00000" "TREX1_000067" "g.48508346dup" "" "{PMID:Zhou 2018:29453956}" "" "459dup (C154fs)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000719474" "0" "50" "3" "48508977" "48508977" "subst" "4.09242E-5" "01943" "ATRIP_000053" "g.48508977C>G" "" "" "" "TREX1(NM_007248.4):c.893C>G (p.S298C), TREX1(NM_033629.6):c.923C>G (p.(Ser308Cys), p.S308C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000765445" "1" "90" "3" "48508348" "48508348" "dup" "0" "00000" "ATRIP_000016" "g.48508348dup" "1/596 chromosomes" "{PMID:Sun 2015:26747767}" "" "" "not in 624 control chromosomes" "Germline" "" "" "0" "" "" "g.48466949dup" "" "pathogenic" "" "0000765500" "1" "70" "3" "48507905" "48507905" "subst" "0" "00000" "TREX1_000069" "g.48507905C>T" "1/596 chromosomes" "{PMID:Sun 2015:26747767}" "" "" "not in 624 control chromosomes" "Germline" "" "" "0" "" "" "g.48466506C>T" "" "likely pathogenic" "" "0000786659" "3" "70" "3" "48508451" "48508451" "del" "0" "00006" "TREX1_000024" "g.48508451del" "" "{PMID:Lefebvre 2021:32732226}" "" "NM_033629.6:c.397del" "" "Germline" "" "" "0" "" "" "g.48467052del" "" "likely pathogenic" "" "0000787421" "0" "50" "3" "0" "0" "" "0" "00006" "TREX1_000037" "g.?" "" "{PMID:Ganapathy 2019:31069529}" "" "c.137G>C (Ser46Thr)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000793753" "0" "70" "3" "48508470" "48508470" "subst" "0" "00000" "TREX1_000070" "g.48508470C>G" "" "{PMID:Zhou-2011:21677794}" "" "c.581C>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793787" "0" "70" "3" "48508348" "48508348" "dup" "0" "00000" "ATRIP_000016" "g.48508348dup" "" "{PMID:Zhou-2011:21677794}" "" "c.459dup" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793799" "0" "70" "3" "48507984" "48507984" "subst" "0" "00000" "TREX1_000000" "g.48507984C>T" "" "{PMID:Zhou-2011:21677794}" "" "c.95C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000797395" "3" "70" "3" "48508517" "48508520" "dup" "0" "00000" "TREX1_000071" "g.48508517_48508520dup" "" "{PMID:Patel 2019:30653986}" "" "error in annotation c.628_631dup; p.Ala221Glyfs*2 instead of p.(Ile211LysfsTer44)" "no Sanger sequencing; homozygous" "Germline" "?" "" "0" "" "" "g.48467118_48467121dup" "" "likely pathogenic" "" "0000801264" "0" "50" "3" "48506317" "48506317" "subst" "2.03661E-5" "01943" "ATRIP_000054" "g.48506317C>T" "" "" "" "ATRIP(NM_130384.3):c.2143C>T (p.R715W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801265" "0" "30" "3" "48506471" "48506471" "subst" "0.000271771" "01943" "ATRIP_000055" "g.48506471C>T" "" "" "" "ATRIP(NM_130384.3):c.2297C>T (p.T766M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801266" "0" "30" "3" "48507980" "48507980" "subst" "8.19961E-6" "02330" "ATRIP_000056" "g.48507980C>T" "" "" "" "TREX1(NM_007248.5):c.-18-87C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801267" "0" "30" "3" "48508081" "48508081" "subst" "0" "01943" "ATRIP_000057" "g.48508081G>A" "" "" "" "TREX1(NM_033629.6):c.27G>A (p.G9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801268" "0" "50" "3" "48508517" "48508517" "subst" "8.1487E-6" "02325" "ATRIP_000058" "g.48508517A>G" "" "" "" "TREX1(NM_033629.6):c.463A>G (p.S155G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801269" "0" "50" "3" "48508677" "48508677" "subst" "7.72609E-5" "02325" "ATRIP_000041" "g.48508677G>C" "" "" "" "TREX1(NM_007248.2):c.593G>C (p.(Cys198Ser)), TREX1(NM_007248.4):c.593G>C (p.C198S), TREX1(NM_033629.6):c.623G>C (p.C208S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000821018" "0" "70" "3" "48508428" "48508428" "subst" "0" "00000" "ATRIP_000059" "g.48508428A>G" "1/64" "{PMID:Liu 2020:32562694}" "" "TREX1 c.539A>G, p.Asn180Ser" "heterozygous" "Germline/De novo (untested)" "?" "rs757863487" "0" "" "" "g.48467029A>G" "" "likely pathogenic" "" "0000825072" "11" "70" "3" "48508910" "48508919" "dup" "0" "00000" "ATRIP_000060" "g.48508910_48508919dup" "" "{PMID:Bergant 2021:33807868}" "" "LRG_282t1(TREX1):c.1019_1020insGGGGCTGCTG (het)" "c.1019_1020insGGGGCTGCTG automapped to NM_016381.4:c.1021_1030dupGGGCTGCTGG, heterozygous" "Germline" "?" "" "0" "" "" "g.48467511_48467520dup" "" "likely pathogenic" "" "0000850355" "0" "30" "3" "48508237" "48508237" "subst" "0.000601665" "01943" "ATRIP_000063" "g.48508237G>A" "" "" "" "TREX1(NM_007248.4):c.153G>A (p.P51=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850356" "0" "30" "3" "48508402" "48508402" "subst" "0" "01943" "ATRIP_000065" "g.48508402A>G" "" "" "" "TREX1(NM_007248.4):c.318A>G (p.P106=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850357" "0" "50" "3" "48508793" "48508793" "subst" "0.000105617" "02329" "TREX1_000056" "g.48508793G>C" "" "" "" "TREX1(NM_007248.4):c.709G>C (p.A237P), TREX1(NM_007248.5):c.709G>C (p.A237P), TREX1(NM_033629.6):c.739G>C (p.(Ala247Pro), p.A247P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859052" "0" "30" "3" "48506307" "48506307" "subst" "5.29329E-5" "01943" "ATRIP_000061" "g.48506307C>G" "" "" "" "ATRIP(NM_130384.3):c.2133C>G (p.D711E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859053" "0" "30" "3" "48507961" "48507961" "subst" "0" "01804" "ATRIP_000062" "g.48507961T>A" "" "" "" "TREX1(NM_007248.2):c.-18-106T>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859054" "0" "10" "3" "48508252" "48508252" "subst" "0.00120378" "02330" "ATRIP_000014" "g.48508252G>A" "" "" "" "TREX1(NM_007248.4):c.168G>A (p.K56=), TREX1(NM_007248.5):c.168G>A (p.K56=), TREX1(NM_033629.6):c.198G>A (p.K66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000859055" "0" "30" "3" "48508335" "48508335" "subst" "2.45863E-5" "01943" "ATRIP_000064" "g.48508335C>T" "" "" "" "TREX1(NM_007248.4):c.251C>T (p.A84V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859056" "0" "70" "3" "48508344" "48508344" "subst" "6.54922E-5" "02325" "TREX1_000064" "g.48508344G>A" "" "" "" "TREX1(NM_007248.2):c.260G>A (p.(Arg87His)), TREX1(NM_033629.6):c.290G>A (p.R97H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000859057" "0" "30" "3" "48508516" "48508516" "subst" "0.00151962" "02330" "ATRIP_000018" "g.48508516T>C" "" "" "" "TREX1(NM_007248.4):c.432T>C (p.D144=), TREX1(NM_007248.5):c.432T>C (p.D144=), TREX1(NM_033629.6):c.462T>C (p.D154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859058" "0" "50" "3" "48508677" "48508677" "subst" "7.72609E-5" "01804" "ATRIP_000041" "g.48508677G>C" "" "" "" "TREX1(NM_007248.2):c.593G>C (p.(Cys198Ser)), TREX1(NM_007248.4):c.593G>C (p.C198S), TREX1(NM_033629.6):c.623G>C (p.C208S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859059" "0" "30" "3" "48508705" "48508705" "subst" "6.9136E-5" "01804" "ATRIP_000066" "g.48508705G>A" "" "" "" "TREX1(NM_007248.2):c.621G>A (p.(Arg207=)), TREX1(NM_033629.6):c.651G>A (p.R217=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859060" "0" "30" "3" "48508774" "48508774" "subst" "0.000190953" "01943" "TREX1_000029" "g.48508774G>C" "" "" "" "TREX1(NM_033629.6):c.720G>C (p.R240S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859061" "0" "30" "3" "48508966" "48508966" "subst" "0.00924361" "01804" "ATRIP_000025" "g.48508966G>A" "" "" "" "TREX1(NM_007248.2):c.882G>A (p.(Leu294=)), TREX1(NM_007248.4):c.882G>A (p.L294=), TREX1(NM_007248.5):c.882G>A (p.L294=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885882" "0" "50" "3" "48508074" "48508074" "subst" "4.06537E-6" "02329" "ATRIP_000067" "g.48508074C>G" "" "" "" "TREX1(NM_033629.3):c.20C>G (p.(Pro7Arg)), TREX1(NM_033629.6):c.20C>G (p.P7R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885883" "0" "50" "3" "48508128" "48508128" "subst" "8.12414E-6" "02325" "ATRIP_000068" "g.48508128C>T" "" "" "" "TREX1(NM_033629.6):c.74C>T (p.P25L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885884" "0" "30" "3" "48508198" "48508198" "subst" "8.1279E-6" "01804" "ATRIP_000069" "g.48508198C>G" "" "" "" "TREX1(NM_007248.2):c.114C>G (p.(Pro38=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885885" "0" "30" "3" "48508483" "48508483" "subst" "4.06961E-6" "02326" "ATRIP_000070" "g.48508483C>T" "" "" "" "TREX1(NM_033629.6):c.429C>T (p.L143=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885886" "0" "30" "3" "48508733" "48508733" "subst" "0.000113834" "02326" "TREX1_000028" "g.48508733G>A" "" "" "" "TREX1(NM_007248.4):c.649G>A (p.G217S), TREX1(NM_007248.5):c.649G>A (p.G217S), TREX1(NM_033629.6):c.679G>A (p.(Gly227Ser), p.G227S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885887" "0" "30" "3" "48508859" "48508859" "subst" "0" "02326" "ATRIP_000071" "g.48508859G>A" "" "" "" "TREX1(NM_033629.6):c.805G>A (p.(Gly269Ser), p.G269S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885888" "0" "50" "3" "48508977" "48508977" "subst" "4.09242E-5" "02325" "ATRIP_000053" "g.48508977C>G" "" "" "" "TREX1(NM_007248.4):c.893C>G (p.S298C), TREX1(NM_033629.6):c.923C>G (p.(Ser308Cys), p.S308C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000905981" "0" "90" "3" "48508395" "48508395" "subst" "0.000192484" "00000" "TREX1_000006" "g.48508395G>A" "" "{PMID:Zhu 2022:35456422}" "" "TREX1 c.341G>A, p.(Arg114His)" "different transcript, NM_033629.6:c.341G>A is NM_016381.4(TREX1):c.506G>A, p.(Arg169His); heterozygous, probably non-causal incidental finding" "Germline/De novo (untested)" "?" "" "0" "" "" "g.48466996G>A" "" "pathogenic" "ACMG" "0000911958" "0" "10" "3" "48508585" "48508585" "subst" "0.367297" "02329" "ATRIP_000021" "g.48508585C>T" "" "" "" "TREX1(NM_007248.4):c.501C>T (p.Y167=), TREX1(NM_007248.5):c.501C>T (p.Y167=), TREX1(NM_033629.6):c.531C>T (p.Y177=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000911959" "0" "30" "3" "48508705" "48508705" "subst" "6.9136E-5" "02326" "ATRIP_000066" "g.48508705G>A" "" "" "" "TREX1(NM_007248.2):c.621G>A (p.(Arg207=)), TREX1(NM_033629.6):c.651G>A (p.R217=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923963" "0" "50" "3" "48508253" "48508253" "subst" "0" "02325" "ATRIP_000072" "g.48508253C>T" "" "" "" "TREX1(NM_033629.6):c.199C>T (p.L67F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923964" "0" "50" "3" "48508623" "48508623" "subst" "4.06881E-6" "02325" "ATRIP_000073" "g.48508623C>T" "" "" "" "TREX1(NM_033629.6):c.569C>T (p.S190F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923965" "0" "10" "3" "48508966" "48508966" "subst" "0.00924361" "02329" "ATRIP_000025" "g.48508966G>A" "" "" "" "TREX1(NM_007248.2):c.882G>A (p.(Leu294=)), TREX1(NM_007248.4):c.882G>A (p.L294=), TREX1(NM_007248.5):c.882G>A (p.L294=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928803" "0" "50" "3" "48508115" "48508115" "subst" "0" "02326" "ATRIP_000074" "g.48508115G>A" "" "" "" "TREX1(NM_033629.6):c.61G>A (p.A21T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928804" "0" "30" "3" "48508354" "48508354" "subst" "0" "02326" "ATRIP_000075" "g.48508354T>C" "" "" "" "TREX1(NM_033629.6):c.300T>C (p.F100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948182" "0" "90" "3" "48508198" "48508198" "dup" "0" "02330" "TREX1_000054" "g.48508198dup" "" "" "" "TREX1(NM_007248.4):c.114dupC (p.T39Hfs*53), TREX1(NM_007248.5):c.114dupC (p.T39Hfs*53)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000948183" "0" "50" "3" "48508376" "48508376" "subst" "0" "02325" "ATRIP_000076" "g.48508376C>T" "" "" "" "TREX1(NM_033629.6):c.322C>T (p.L108F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000962811" "0" "50" "3" "48508086" "48508086" "subst" "8.12526E-6" "02325" "ATRIP_000012" "g.48508086T>C" "" "" "" "TREX1(NM_007248.2):c.2T>C (p.(Met1?)), TREX1(NM_007248.4):c.2T>C (p.M1?), TREX1(NM_033629.6):c.32T>C (p.M11T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975871" "0" "50" "3" "48508145" "48508145" "subst" "4.0626E-6" "01804" "ATRIP_000078" "g.48508145G>A" "" "" "" "TREX1(NM_033629.6):c.91G>A (p.(Val31Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975872" "0" "30" "3" "48508336" "48508336" "subst" "7.78421E-5" "01804" "ATRIP_000079" "g.48508336G>A" "" "" "" "TREX1(NM_007248.2):c.252G>A (p.(Ala84=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975873" "0" "70" "3" "48508395" "48508395" "subst" "0.000192484" "01804" "TREX1_000006" "g.48508395G>A" "" "" "" "TREX1(NM_007248.2):c.311G>A (p.(Arg104His)), TREX1(NM_007248.4):c.311G>A (p.R104H), TREX1(NM_007248.5):c.311G>A (p.R104H), TREX1(NM_033629.6):c.341..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000975874" "0" "50" "3" "48508721" "48508721" "subst" "1.62649E-5" "02325" "ATRIP_000022" "g.48508721G>A" "" "" "" "TREX1(NM_007248.4):c.637G>A (p.A213T), TREX1(NM_033629.6):c.667G>A (p.A223T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975875" "0" "50" "3" "48508977" "48508977" "subst" "4.09242E-5" "01804" "ATRIP_000053" "g.48508977C>G" "" "" "" "TREX1(NM_007248.4):c.893C>G (p.S298C), TREX1(NM_033629.6):c.923C>G (p.(Ser308Cys), p.S308C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993751" "0" "30" "3" "48508074" "48508074" "subst" "4.06537E-6" "01804" "ATRIP_000067" "g.48508074C>G" "" "" "" "TREX1(NM_033629.3):c.20C>G (p.(Pro7Arg)), TREX1(NM_033629.6):c.20C>G (p.P7R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993752" "0" "50" "3" "48508607" "48508607" "subst" "1.2213E-5" "02325" "TREX1_000055" "g.48508607C>T" "" "" "" "TREX1(NM_033629.6):c.553C>T (p.(Arg185Cys), p.R185C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993753" "0" "50" "3" "48508689" "48508689" "subst" "0" "01804" "ATRIP_000080" "g.48508689C>A" "" "" "" "TREX1(NM_033629.3):c.635C>A (p.(Pro212Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993754" "0" "30" "3" "48508996" "48508996" "subst" "0" "01804" "ATRIP_000081" "g.48508996G>T" "" "" "" "TREX1(NM_016381.4):c.1107G>T (p.(Glu369Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013899" "0" "50" "3" "48508086" "48508086" "subst" "8.12526E-6" "01804" "ATRIP_000012" "g.48508086T>C" "" "" "" "TREX1(NM_007248.2):c.2T>C (p.(Met1?)), TREX1(NM_007248.4):c.2T>C (p.M1?), TREX1(NM_033629.6):c.32T>C (p.M11T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013900" "0" "50" "3" "48508607" "48508607" "subst" "1.2213E-5" "02327" "TREX1_000055" "g.48508607C>T" "" "" "" "TREX1(NM_033629.6):c.553C>T (p.(Arg185Cys), p.R185C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013901" "0" "30" "3" "48508733" "48508733" "subst" "0.000113834" "02327" "TREX1_000028" "g.48508733G>A" "" "" "" "TREX1(NM_007248.4):c.649G>A (p.G217S), TREX1(NM_007248.5):c.649G>A (p.G217S), TREX1(NM_033629.6):c.679G>A (p.(Gly227Ser), p.G227S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013902" "0" "50" "3" "48508793" "48508793" "subst" "0.000105617" "02327" "TREX1_000056" "g.48508793G>C" "" "" "" "TREX1(NM_007248.4):c.709G>C (p.A237P), TREX1(NM_007248.5):c.709G>C (p.A237P), TREX1(NM_033629.6):c.739G>C (p.(Ala247Pro), p.A247P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013903" "0" "30" "3" "48508800" "48508800" "subst" "0" "01804" "ATRIP_000082" "g.48508800C>A" "" "" "" "TREX1(NM_007248.2):c.716C>A (p.(Thr239Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034005" "0" "50" "3" "48508028" "48508028" "subst" "7.74271E-5" "01804" "TREX1_000061" "g.48508028G>A" "" "" "" "ATRIP(NM_130384.3):c.*1075G>A, TREX1(NM_033629.6):c.-26-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034006" "0" "70" "3" "48508290" "48508297" "dup" "0" "01804" "TREX1_000032" "g.48508290_48508297dup" "" "" "" "TREX1(NM_033629.6):c.236_243dup (p.(Ser82LeufsTer9))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001034007" "0" "50" "3" "48508343" "48508343" "subst" "0" "01804" "ATRIP_000089" "g.48508343C>A" "" "" "" "TREX1(NM_033629.6):c.289C>A (p.(Arg97Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034008" "0" "50" "3" "48508923" "48508923" "subst" "5.69471E-5" "01804" "TREX1_000031" "g.48508923C>T" "" "" "" "TREX1(NM_007248.2):c.839C>T (p.(Pro280Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045927" "0" "50" "3" "48508793" "48508793" "subst" "0.000105617" "02325" "TREX1_000056" "g.48508793G>C" "" "" "" "TREX1(NM_007248.4):c.709G>C (p.A237P), TREX1(NM_007248.5):c.709G>C (p.A237P), TREX1(NM_033629.6):c.739G>C (p.(Ala247Pro), p.A247P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051309" "0" "90" "3" "48508344" "48508344" "subst" "" "01804" "TREX1_000064" "g.48508344G>A" "" "" "" "TREX1(NM_007248.2):c.260G>A (p.(Arg87His)), TREX1(NM_033629.6):c.290G>A (p.R97H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001051310" "0" "50" "3" "48508607" "48508607" "subst" "" "01804" "TREX1_000055" "g.48508607C>T" "" "" "" "TREX1(NM_033629.6):c.553C>T (p.(Arg185Cys), p.R185C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051311" "0" "50" "3" "48508733" "48508733" "subst" "" "01804" "TREX1_000028" "g.48508733G>A" "" "" "" "TREX1(NM_007248.4):c.649G>A (p.G217S), TREX1(NM_007248.5):c.649G>A (p.G217S), TREX1(NM_033629.6):c.679G>A (p.(Gly227Ser), p.G227S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051312" "0" "50" "3" "48508793" "48508793" "subst" "" "01804" "TREX1_000056" "g.48508793G>C" "" "" "" "TREX1(NM_007248.4):c.709G>C (p.A237P), TREX1(NM_007248.5):c.709G>C (p.A237P), TREX1(NM_033629.6):c.739G>C (p.(Ala247Pro), p.A247P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051313" "0" "50" "3" "48508859" "48508859" "subst" "" "01804" "ATRIP_000071" "g.48508859G>A" "" "" "" "TREX1(NM_033629.6):c.805G>A (p.(Gly269Ser), p.G269S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051314" "0" "50" "3" "48508961" "48508961" "subst" "" "01804" "TREX1_000017" "g.48508961A>C" "" "" "" "TREX1(NM_033629.6):c.907A>C (p.(Thr303Pro))" "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 TREX1 ## Count = 445 "{{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}}" "0000181470" "00021780" "70" "358" "0" "360" "0" "c.358_360dup" "r.(?)" "p.(Asp120dup)" "1" "0000181470" "00024308" "70" "193" "0" "195" "0" "c.193_195dup" "r.(?)" "p.(Asp65dup)" "2" "0000181471" "00021780" "50" "139" "0" "139" "0" "c.139G>A" "r.(?)" "p.(Gly47Ser)" "1" "0000181471" "00024308" "90" "-26" "-1" "-26" "-1" "c.-26-1G>A" "r.spl" "p.?" "1i" "0000181472" "00024308" "95" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Arg128His)" "2" "0000181473" "00021780" "99" "868" "0" "868" "0" "c.868dup" "r.(?)" "p.(Val290Glyfs*6)" "1" "0000181473" "00024308" "99" "703" "0" "703" "0" "c.703dup" "r.(?)" "p.(Val235Glyfs*6)" "2" "0000181474" "00021780" "99" "908" "0" "911" "0" "c.908_911dup" "r.(?)" "p.(Thr305Hisfs*13)" "1" "0000181474" "00024308" "99" "743" "0" "746" "0" "c.743_746dup" "r.(?)" "p.(Thr250Hisfs*13)" "2" "0000181475" "00021780" "99" "871" "0" "871" "0" "c.871dup" "r.(?)" "p.(Thr291Asnfs*5)" "1" "0000181475" "00024308" "99" "706" "0" "706" "0" "c.706dup" "r.(?)" "p.(Thr236Asnfs*5)" "2" "0000181476" "00021780" "99" "1015" "0" "1015" "0" "c.1015dup" "r.(?)" "p.(Arg339Lysfs*41)" "1" "0000181476" "00024308" "99" "850" "0" "850" "0" "c.850dup" "r.(?)" "p.(Arg284Lysfs*41)" "2" "0000181477" "00021780" "99" "1023" "0" "1023" "0" "c.1023dup" "r.(?)" "p.(Leu342Alafs*38)" "1" "0000181477" "00024308" "99" "858" "0" "858" "0" "c.858dup" "r.(?)" "p.(Leu287Alafs*38)" "2" "0000181478" "00021780" "99" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169His)" "1" "0000181478" "00024308" "99" "341" "0" "341" "0" "c.341G>A" "r.(?)" "p.(Arg114His)" "2" "0000181479" "00021780" "95" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169His)" "1" "0000181479" "00024308" "95" "341" "0" "341" "0" "c.341G>A" "r.(?)" "p.(Arg114His)" "2" "0000181480" "00021780" "95" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169His)" "1" "0000181480" "00024308" "95" "341" "0" "341" "0" "c.341G>A" "r.(?)" "p.(Arg114His)" "2" "0000181481" "00021780" "95" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169His)" "1" "0000181481" "00024308" "95" "341" "0" "341" "0" "c.341G>A" "r.(?)" "p.(Arg114His)" "2" "0000181482" "00021780" "95" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169His)" "1" "0000181482" "00024308" "95" "341" "0" "341" "0" "c.341G>A" "r.(?)" "p.(Arg114His)" "2" "0000181483" "00021780" "95" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169His)" "1" "0000181483" "00024308" "95" "341" "0" "341" "0" "c.341G>A" "r.(?)" "p.(Arg114His)" "2" "0000181484" "00021780" "95" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169His)" "1" "0000181484" "00024308" "95" "341" "0" "341" "0" "c.341G>A" "r.(?)" "p.(Arg114His)" "2" "0000181485" "00021780" "95" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169His)" "1" "0000181485" "00024308" "95" "341" "0" "341" "0" "c.341G>A" "r.(?)" "p.(Arg114His)" "2" "0000181486" "00021780" "75" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169His)" "1" "0000181486" "00024308" "75" "341" "0" "341" "0" "c.341G>A" "r.(?)" "p.(Arg114His)" "2" "0000181487" "00021780" "99" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169His)" "1" "0000181487" "00024308" "99" "341" "0" "341" "0" "c.341G>A" "r.(?)" "p.(Arg114His)" "2" "0000181488" "00021780" "77" "763" "0" "765" "0" "c.763_765dup" "r.(?)" "p.(Asp255dup)" "1" "0000181488" "00024308" "77" "599" "0" "601" "0" "c.599_601dup" "r.(?)" "p.(Asp200dup)" "2" "0000181489" "00021780" "99" "540" "0" "540" "0" "c.540dup" "r.(?)" "p.(Gly181Trpfs*2)" "1" "0000181489" "00024308" "99" "375" "0" "375" "0" "c.375dup" "r.(?)" "p.(Gly126Trpfs*2)" "2" "0000181490" "00021780" "31" "540" "0" "540" "0" "c.540dup" "r.(?)" "p.(Gly181Trpfs*2)" "1" "0000181490" "00024308" "31" "375" "0" "375" "0" "c.375dup" "r.(?)" "p.(Gly126Trpfs*2)" "2" "0000181491" "00021780" "99" "655" "0" "655" "0" "c.655C>T" "r.(?)" "p.(Arg219*)" "1" "0000181491" "00024308" "99" "490" "0" "490" "0" "c.490C>T" "r.(?)" "p.(Arg164*)" "2" "0000181492" "00021780" "75" "763" "0" "763" "0" "c.763G>A" "r.(?)" "p.(Asp255Asn)" "1" "0000181492" "00024308" "75" "598" "0" "598" "0" "c.598G>A" "r.(?)" "p.(Asp200Asn)" "2" "0000181493" "00021780" "55" "1079" "0" "1079" "0" "c.1079A>G" "r.(?)" "p.(Tyr360Cys)" "1" "0000181493" "00024308" "55" "914" "0" "914" "0" "c.914A>G" "r.(?)" "p.(Tyr305Cys)" "2" "0000181494" "00021780" "55" "1079" "0" "1079" "0" "c.1079A>G" "r.(?)" "p.(Tyr360Cys)" "1" "0000181494" "00024308" "55" "914" "0" "914" "0" "c.914A>G" "r.(?)" "p.(Tyr305Cys)" "2" "0000181495" "00021780" "99" "217" "0" "217" "0" "c.217G>A" "r.(?)" "p.(Asp73Asn)" "1" "0000181495" "00024308" "99" "52" "0" "52" "0" "c.52G>A" "r.(?)" "p.(Asp18Asn)" "2" "0000181496" "00021780" "95" "217" "0" "217" "0" "c.217G>A" "r.(?)" "p.(Asp73Asn)" "1" "0000181496" "00024308" "95" "52" "0" "52" "0" "c.52G>A" "r.(?)" "p.(Asp18Asn)" "2" "0000181497" "00021780" "95" "217" "0" "217" "0" "c.217G>A" "r.(?)" "p.(Asp73Asn)" "1" "0000181497" "00024308" "95" "52" "0" "52" "0" "c.52G>A" "r.(?)" "p.(Asp18Asn)" "2" "0000181498" "00021780" "95" "217" "0" "217" "0" "c.217G>A" "r.(?)" "p.(Asp73Asn)" "1" "0000181498" "00024308" "95" "52" "0" "52" "0" "c.52G>A" "r.(?)" "p.(Asp18Asn)" "2" "0000181499" "00021780" "57" "223" "0" "223" "0" "c.223dup" "r.(?)" "p.(Glu75Glyfs*82)" "1" "0000181499" "00024308" "57" "58" "0" "58" "0" "c.58dup" "r.(?)" "p.(Glu20Glyfs*82)" "2" "0000181500" "00021780" "95" "223" "0" "223" "0" "c.223dup" "r.(?)" "p.(Glu75Glyfs*82)" "1" "0000181500" "00024308" "95" "58" "0" "58" "0" "c.58dup" "r.(?)" "p.(Glu20Glyfs*82)" "2" "0000181501" "00021780" "95" "223" "0" "223" "0" "c.223dup" "r.(?)" "p.(Glu75Glyfs*82)" "1" "0000181501" "00024308" "95" "58" "0" "58" "0" "c.58dup" "r.(?)" "p.(Glu20Glyfs*82)" "2" "0000181502" "00021780" "95" "223" "0" "223" "0" "c.223dup" "r.(?)" "p.(Glu75Glyfs*82)" "1" "0000181502" "00024308" "95" "58" "0" "58" "0" "c.58dup" "r.(?)" "p.(Glu20Glyfs*82)" "2" "0000181503" "00021780" "99" "767" "0" "767" "0" "c.767T>A" "r.(?)" "p.(Val256Asp)" "1" "0000181503" "00024308" "99" "602" "0" "602" "0" "c.602T>A" "r.(?)" "p.(Val201Asp)" "2" "0000181504" "00021780" "57" "530" "0" "530" "0" "c.530T>C" "r.(?)" "p.(Val177Ala)" "1" "0000181504" "00024308" "57" "365" "0" "365" "0" "c.365T>C" "r.(?)" "p.(Val122Ala)" "2" "0000181505" "00021780" "55" "1072" "0" "1072" "0" "c.1072A>C" "r.(?)" "p.(Thr358Pro)" "1" "0000181505" "00024308" "55" "907" "0" "907" "0" "c.907A>C" "r.(?)" "p.(Thr303Pro)" "2" "0000181506" "00021780" "75" "1072" "0" "1072" "0" "c.1072A>C" "r.(?)" "p.(Thr358Pro)" "1" "0000181506" "00024308" "75" "907" "0" "907" "0" "c.907A>C" "r.(?)" "p.(Thr303Pro)" "2" "0000181507" "00021780" "55" "377" "0" "378" "0" "c.377_378dup" "r.(?)" "p.(Ala127Trpfs*17)" "1" "0000181507" "00024308" "55" "212" "0" "213" "0" "c.212_213dup" "r.(?)" "p.(Ala72Trpfs*17)" "2" "0000181508" "00021780" "95" "377" "0" "378" "0" "c.377_378dup" "r.(?)" "p.(Ala127Trpfs*17)" "1" "0000181508" "00024308" "95" "212" "0" "213" "0" "c.212_213dup" "r.(?)" "p.(Ala72Trpfs*17)" "2" "0000181509" "00021780" "95" "401" "0" "408" "0" "c.401_408dup" "r.(?)" "p.(Ser137Leufs*9)" "1" "0000181509" "00024308" "95" "236" "0" "243" "0" "c.236_243dup" "r.(?)" "p.(Ser82Leufs*9)" "2" "0000181510" "00021780" "57" "531" "0" "533" "0" "c.531_533dup" "r.(?)" "p.(Ala178dup)" "1" "0000181510" "00024308" "57" "366" "0" "368" "0" "c.366_368dup" "r.(?)" "p.(Ala123dup)" "2" "0000181511" "00021780" "57" "558" "0" "573" "0" "c.558_573dup" "r.(?)" "p.(Glu192Profs*24)" "1" "0000181511" "00024308" "57" "393" "0" "408" "0" "c.393_408dup" "r.(?)" "p.(Glu137Profs*24)" "2" "0000181512" "00021780" "57" "774" "0" "827" "0" "c.774_827dup" "r.(?)" "p.(Leu259_Ala276dup)" "1" "0000181512" "00024308" "57" "609" "0" "662" "0" "c.609_662dup" "r.(?)" "p.(Leu204_Ala221dup)" "2" "0000181513" "00021780" "95" "774" "0" "827" "0" "c.774_827dup" "r.(?)" "p.(Leu259_Ala276dup)" "1" "0000181513" "00024308" "95" "609" "0" "662" "0" "c.609_662dup" "r.(?)" "p.(Leu204_Ala221dup)" "2" "0000181514" "00021780" "55" "790" "0" "793" "0" "c.790_793dup" "r.(?)" "p.(Trp265Serfs*32)" "1" "0000181514" "00024308" "55" "625" "0" "628" "0" "c.625_628dup" "r.(?)" "p.(Trp210Serfs*32)" "2" "0000181515" "00021780" "57" "1033" "0" "1050" "0" "c.1033_1050del" "r.(?)" "p.(Pro345_Ala350del)" "1" "0000181515" "00024308" "57" "868" "0" "885" "0" "c.868_885del" "r.(?)" "p.(Pro290_Ala295del)" "2" "0000181516" "00021780" "95" "1033" "0" "1050" "0" "c.1033_1050del" "r.(?)" "p.(Pro345_Ala350del)" "1" "0000181516" "00024308" "95" "868" "0" "885" "0" "c.868_885del" "r.(?)" "p.(Pro290_Ala295del)" "2" "0000181517" "00021780" "55" "562" "0" "562" "0" "c.562del" "r.(?)" "p.(Leu188Cysfs*27)" "1" "0000181517" "00024308" "55" "397" "0" "397" "0" "c.397del" "r.(?)" "p.(Leu133Cysfs*27)" "2" "0000181518" "00021780" "55" "665" "0" "665" "0" "c.665del" "r.(?)" "p.(Ser222Thrfs*13)" "1" "0000181518" "00024308" "55" "500" "0" "500" "0" "c.500del" "r.(?)" "p.(Ser167Thrfs*13)" "2" "0000181519" "00021780" "55" "638" "0" "638" "0" "c.638C>T" "r.(?)" "p.(Ala213Val)" "1" "0000181519" "00024308" "55" "473" "0" "473" "0" "c.473C>T" "r.(?)" "p.(Ala158Val)" "2" "0000181520" "00021780" "99" "800" "0" "800" "0" "c.800del" "r.(?)" "p.(Pro267Hisfs*65)" "1" "0000181520" "00024308" "99" "635" "0" "635" "0" "c.635del" "r.(?)" "p.(Pro212Hisfs*65)" "2" "0000181521" "00021780" "95" "800" "0" "800" "0" "c.800del" "r.(?)" "p.(Pro267Hisfs*65)" "1" "0000181521" "00024308" "95" "635" "0" "635" "0" "c.635del" "r.(?)" "p.(Pro212Hisfs*65)" "2" "0000181522" "00021780" "55" "844" "0" "844" "0" "c.844G>A" "r.(?)" "p.(Gly282Ser)" "1" "0000181522" "00024308" "55" "679" "0" "679" "0" "c.679G>A" "r.(?)" "p.(Gly227Ser)" "2" "0000181523" "00021780" "55" "885" "0" "885" "0" "c.885G>C" "r.(?)" "p.(Arg295Ser)" "1" "0000181523" "00024308" "55" "720" "0" "720" "0" "c.720G>C" "r.(?)" "p.(Arg240Ser)" "2" "0000181524" "00021780" "99" "977" "0" "978" "0" "c.977_978dup" "r.(?)" "p.(Asp327Argfs*6)" "1" "0000181524" "00024308" "99" "812" "0" "813" "0" "c.812_813dup" "r.(?)" "p.(Asp272Argfs*6)" "2" "0000181525" "00021780" "55" "1034" "0" "1034" "0" "c.1034C>T" "r.(?)" "p.(Pro345Leu)" "1" "0000181525" "00024308" "55" "869" "0" "869" "0" "c.869C>T" "r.(?)" "p.(Pro290Leu)" "2" "0000181526" "00021780" "55" "1082" "0" "1082" "0" "c.1082G>C" "r.(?)" "p.(Gly361Ala)" "1" "0000181526" "00024308" "55" "917" "0" "917" "0" "c.917G>C" "r.(?)" "p.(Gly306Ala)" "2" "0000181527" "00021780" "95" "315" "0" "316" "0" "c.315_316del" "r.(?)" "p.(Gln106Glyfs*50)" "1" "0000181527" "00024308" "95" "150" "0" "151" "0" "c.150_151del" "r.(?)" "p.(Gln51Glyfs*50)" "2" "0000181528" "00021780" "95" "315" "0" "316" "0" "c.315_316del" "r.(?)" "p.(Gln106Glyfs*50)" "1" "0000181528" "00024308" "95" "150" "0" "151" "0" "c.150_151del" "r.(?)" "p.(Gln51Glyfs*50)" "2" "0000181529" "00021780" "95" "665" "0" "665" "0" "c.665del" "r.(?)" "p.(Ser222Thrfs*13)" "1" "0000181529" "00024308" "95" "500" "0" "500" "0" "c.500del" "r.(?)" "p.(Ser167Thrfs*13)" "2" "0000181530" "00021780" "95" "757" "0" "757" "0" "c.757G>A" "r.(?)" "p.(Glu253Lys)" "1" "0000181530" "00024308" "95" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Glu198Lys)" "2" "0000181531" "00021780" "95" "763" "0" "763" "0" "c.763G>C" "r.(?)" "p.(Asp255His)" "1" "0000181531" "00024308" "95" "598" "0" "598" "0" "c.598G>C" "r.(?)" "p.(Asp200His)" "2" "0000181532" "00021780" "95" "1024" "0" "1041" "0" "c.1024_1041del" "r.(?)" "p.(Pro345_Ala350del)" "1" "0000181532" "00024308" "95" "868" "0" "885" "0" "c.868_885del" "r.(?)" "p.(Pro290_Ala295del)" "2" "0000181533" "00021780" "95" "1144" "0" "1144" "0" "c.*34delC" "r.(=)" "p.(=)" "1" "0000181533" "00024308" "95" "979" "0" "979" "0" "c.979delC" "r.(?)" "p.?" "2" "0000181534" "00021780" "95" "1072" "0" "1075" "0" "c.1072_1075dup" "r.(?)" "p.(Leu359Hisfs*22)" "1" "0000181534" "00024308" "95" "907" "0" "910" "0" "c.907_910dup" "r.(?)" "p.(Leu304Hisfs*22)" "2" "0000181535" "00021780" "95" "405" "0" "405" "0" "c.405dup" "r.(?)" "p.(Ala136Serfs*21)" "1" "0000181535" "00024308" "95" "240" "0" "240" "0" "c.240dup" "r.(?)" "p.(Ala81Serfs*21)" "2" "0000181536" "00021780" "95" "858" "0" "858" "0" "c.858dup" "r.(?)" "p.(Met287Hisfs*9)" "1" "0000181536" "00024308" "95" "693" "0" "693" "0" "c.693dup" "r.(?)" "p.(Met232Hisfs*9)" "2" "0000181537" "00021780" "75" "260" "0" "260" "0" "c.260C>G" "r.(?)" "p.(Thr87Arg)" "1" "0000181537" "00024308" "75" "95" "0" "95" "0" "c.95C>G" "r.(?)" "p.(Thr32Arg)" "2" "0000181538" "00021780" "75" "824" "0" "824" "0" "c.824A>G" "r.(?)" "p.(Asp275Gly)" "1" "0000181538" "00024308" "75" "659" "0" "659" "0" "c.659A>G" "r.(?)" "p.(Asp220Gly)" "2" "0000181539" "00021780" "95" "580" "0" "581" "0" "c.580_581del" "r.(?)" "p.(Ala194Tyrfs*16)" "1" "0000181539" "00024308" "95" "415" "0" "416" "0" "c.415_416del" "r.(?)" "p.(Ala139Tyrfs*16)" "2" "0000181540" "00021780" "35" "540" "0" "540" "0" "c.540T>C" "r.(=)" "p.(=)" "1" "0000181540" "00024308" "35" "375" "0" "375" "0" "c.375T>C" "r.(?)" "p.(=)" "2" "0000181541" "00021780" "95" "309" "0" "309" "0" "c.309dup" "r.(?)" "p.(Thr104Hisfs*53)" "1" "0000181541" "00024308" "95" "144" "0" "144" "0" "c.144dup" "r.(?)" "p.(Thr49Hisfs*53)" "2" "0000181542" "00021780" "55" "718" "0" "718" "0" "c.718C>T" "r.(?)" "p.(Arg240Cys)" "1" "0000181542" "00024308" "55" "553" "0" "553" "0" "c.553C>T" "r.(?)" "p.(Arg185Cys)" "2" "0000181543" "00021780" "55" "904" "0" "904" "0" "c.904G>C" "r.(?)" "p.(Ala302Pro)" "1" "0000181543" "00024308" "55" "739" "0" "739" "0" "c.739G>C" "r.(?)" "p.(Ala247Pro)" "2" "0000181544" "00021780" "77" "203" "0" "203" "0" "c.203C>A" "r.(?)" "p.(Thr68Asn)" "1" "0000181544" "00024308" "77" "38" "0" "38" "0" "c.38C>A" "r.(?)" "p.(Thr13Asn)" "2" "0000181545" "00021780" "77" "1023" "0" "1023" "0" "c.1023del" "r.(?)" "p.(Leu342Cysfs*11)" "1" "0000181545" "00024308" "77" "858" "0" "858" "0" "c.858del" "r.(?)" "p.(Leu287Cysfs*11)" "2" "0000181546" "00021780" "77" "632" "0" "632" "0" "c.632del" "r.(?)" "p.(Ile211Thrfs*4)" "1" "0000181546" "00024308" "77" "467" "0" "467" "0" "c.467del" "r.(?)" "p.(Ile156Thrfs*4)" "2" "0000246202" "00021780" "50" "1079" "0" "1079" "0" "c.1079A>G" "r.(?)" "p.(Tyr360Cys)" "" "0000246202" "00024308" "50" "914" "0" "914" "0" "c.914A>G" "r.(?)" "p.(Tyr305Cys)" "" "0000254742" "00021780" "30" "-1501" "0" "-1501" "0" "c.-1501A>T" "r.(?)" "p.(=)" "" "0000254742" "00024308" "30" "-1346" "0" "-1346" "0" "c.-1346A>T" "r.(?)" "p.(=)" "" "0000254955" "00021780" "30" "21" "0" "21" "0" "c.21A>G" "r.(?)" "p.(Arg7=)" "" "0000254955" "00024308" "30" "-26" "-119" "-26" "-119" "c.-26-119A>G" "r.(=)" "p.(=)" "" "0000255374" "00021780" "70" "-7134" "0" "-7134" "0" "c.-7134A>G" "r.(?)" "p.(=)" "" "0000255374" "00024308" "70" "-6979" "0" "-6979" "0" "c.-6979A>G" "r.(?)" "p.(=)" "" "0000263416" "00021780" "30" "-5961" "0" "-5961" "0" "c.-5961C>T" "r.(?)" "p.(=)" "" "0000263416" "00024308" "30" "-5806" "0" "-5806" "0" "c.-5806C>T" "r.(?)" "p.(=)" "" "0000263417" "00021780" "50" "-5813" "0" "-5813" "0" "c.-5813C>T" "r.(?)" "p.(=)" "" "0000263417" "00024308" "50" "-5658" "0" "-5658" "0" "c.-5658C>T" "r.(?)" "p.(=)" "" "0000263418" "00021780" "30" "-1841" "0" "-1841" "0" "c.-1841G>C" "r.(?)" "p.(=)" "" "0000263418" "00024308" "30" "-1686" "0" "-1686" "0" "c.-1686G>C" "r.(?)" "p.(=)" "" "0000312039" "00021780" "10" "363" "0" "363" "0" "c.363G>A" "r.(?)" "p.(Lys121=)" "" "0000312039" "00024308" "10" "198" "0" "198" "0" "c.198G>A" "r.(?)" "p.(Lys66=)" "" "0000312040" "00021780" "30" "477" "0" "477" "0" "c.477G>C" "r.(?)" "p.(Leu159=)" "" "0000312040" "00024308" "30" "312" "0" "312" "0" "c.312G>C" "r.(?)" "p.(Leu104=)" "" "0000312041" "00021780" "10" "627" "0" "627" "0" "c.627T>C" "r.(?)" "p.(Asp209=)" "" "0000312041" "00024308" "10" "462" "0" "462" "0" "c.462T>C" "r.(?)" "p.(Asp154=)" "" "0000312042" "00021780" "10" "696" "0" "696" "0" "c.696=" "r.(=)" "p.(Tyr232=)" "" "0000312042" "00024308" "10" "531" "0" "531" "0" "c.531=" "r.(=)" "p.(Tyr177=)" "" "0000314819" "00021780" "30" "885" "0" "885" "0" "c.885G>A" "r.(?)" "p.(Arg295=)" "" "0000314819" "00024308" "30" "720" "0" "720" "0" "c.720G>A" "r.(?)" "p.(Arg240=)" "" "0000317028" "00021780" "10" "-18" "0" "-18" "0" "c.-18C>T" "r.(?)" "p.(=)" "" "0000317028" "00024308" "10" "-26" "-157" "-26" "-157" "c.-26-157C>T" "r.(=)" "p.(=)" "" "0000317029" "00021780" "10" "1077" "0" "1077" "0" "c.1077G>A" "r.(?)" "p.(Leu359=)" "" "0000317029" "00024308" "10" "912" "0" "912" "0" "c.912G>A" "r.(?)" "p.(Leu304=)" "" "0000317030" "00021780" "50" "197" "0" "197" "0" "c.197T>C" "r.(?)" "p.(Met66Thr)" "" "0000317030" "00024308" "50" "32" "0" "32" "0" "c.32T>C" "r.(?)" "p.(Met11Thr)" "" "0000317032" "00021780" "50" "377" "0" "377" "0" "c.377T>C" "r.(?)" "p.(Val126Ala)" "" "0000317032" "00024308" "50" "212" "0" "212" "0" "c.212T>C" "r.(?)" "p.(Val71Ala)" "" "0000317033" "00021780" "90" "459" "0" "459" "0" "c.459dup" "r.(?)" "p.(Cys154MetfsTer3)" "" "0000317033" "00024308" "90" "294" "0" "294" "0" "c.294dup" "r.(?)" "p.(Cys99MetfsTer3)" "" "0000317034" "00021780" "50" "5" "0" "5" "0" "c.5G>A" "r.(?)" "p.(Gly2Asp)" "" "0000317034" "00024308" "50" "-26" "-135" "-26" "-135" "c.-26-135G>A" "r.(=)" "p.(=)" "" "0000317035" "00021780" "30" "651" "0" "651" "0" "c.651G>A" "r.(?)" "p.(Leu217=)" "" "0000317035" "00024308" "30" "486" "0" "486" "0" "c.486G>A" "r.(?)" "p.(Leu162=)" "" "0000317036" "00021780" "30" "666" "0" "666" "0" "c.666C>T" "r.(?)" "p.(Ser222=)" "" "0000317036" "00024308" "30" "501" "0" "501" "0" "c.501C>T" "r.(?)" "p.(Ser167=)" "" "0000317037" "00021780" "10" "696" "0" "696" "0" "c.696=" "r.(=)" "p.(Tyr232=)" "" "0000317037" "00024308" "10" "531" "0" "531" "0" "c.531=" "r.(=)" "p.(Tyr177=)" "" "0000317038" "00021780" "50" "832" "0" "832" "0" "c.832G>A" "r.(?)" "p.(Ala278Thr)" "" "0000317038" "00024308" "50" "667" "0" "667" "0" "c.667G>A" "r.(?)" "p.(Ala223Thr)" "" "0000317039" "00021780" "50" "904" "0" "904" "0" "c.904G>C" "r.(?)" "p.(Ala302Pro)" "" "0000317039" "00024308" "50" "739" "0" "739" "0" "c.739G>C" "r.(?)" "p.(Ala247Pro)" "" "0000317040" "00021780" "70" "947" "0" "947" "0" "c.947del" "r.(?)" "p.(Ser316IlefsTer16)" "" "0000317040" "00024308" "70" "782" "0" "782" "0" "c.782del" "r.(?)" "p.(Ser261IlefsTer16)" "" "0000329382" "00021780" "50" "-16413" "0" "-16413" "0" "c.-16413G>A" "r.(?)" "p.(=)" "" "0000329382" "00024308" "50" "-16258" "0" "-16258" "0" "c.-16258G>A" "r.(?)" "p.(=)" "" "0000329383" "00021780" "50" "-1653" "0" "-1653" "0" "c.-1653G>A" "r.(?)" "p.(=)" "" "0000329383" "00024308" "50" "-1498" "0" "-1498" "0" "c.-1498G>A" "r.(?)" "p.(=)" "" "0000329386" "00021780" "50" "2662" "0" "2664" "0" "c.*1552_*1554del" "r.(=)" "p.(=)" "" "0000329386" "00024308" "50" "2497" "0" "2499" "0" "c.*1552_*1554del" "r.(=)" "p.(=)" "" "0000341038" "00021780" "10" "696" "0" "696" "0" "c.696=" "r.(=)" "p.(Tyr232=)" "" "0000341038" "00024308" "10" "531" "0" "531" "0" "c.531=" "r.(=)" "p.(Tyr177=)" "" "0000342056" "00021780" "70" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169His)" "" "0000342056" "00024308" "70" "341" "0" "341" "0" "c.341G>A" "r.(?)" "p.(Arg114His)" "" "0000442474" "00024308" "90" "635" "0" "635" "0" "c.635del" "r.(?)" "p.Pro212Hisfs*65" "" "0000520067" "00021780" "30" "-1611" "0" "-1611" "0" "c.-1611G>A" "r.(?)" "p.(=)" "" "0000520067" "00024308" "30" "-1456" "0" "-1456" "0" "c.-1456G>A" "r.(?)" "p.(=)" "" "0000520068" "00021780" "10" "-223" "0" "-223" "0" "c.-223T>C" "r.(?)" "p.(=)" "" "0000520068" "00024308" "10" "-68" "0" "-68" "0" "c.-68T>C" "r.(?)" "p.(=)" "" "0000520069" "00021780" "30" "45" "0" "45" "0" "c.45G>T" "r.(?)" "p.(Arg15Ser)" "" "0000520069" "00024308" "30" "-26" "-95" "-26" "-95" "c.-26-95G>T" "r.(=)" "p.(=)" "" "0000520070" "00021780" "50" "70" "0" "70" "0" "c.70C>G" "r.(?)" "p.(Pro24Ala)" "" "0000520070" "00024308" "50" "-26" "-70" "-26" "-70" "c.-26-70C>G" "r.(=)" "p.(=)" "" "0000520071" "00021780" "50" "70" "0" "70" "0" "c.70C>G" "r.(?)" "p.(Pro24Ala)" "" "0000520071" "00024308" "50" "-26" "-70" "-26" "-70" "c.-26-70C>G" "r.(=)" "p.(=)" "" "0000520072" "00021780" "30" "75" "0" "75" "0" "c.75C>A" "r.(?)" "p.(Thr25=)" "" "0000520072" "00024308" "30" "-26" "-65" "-26" "-65" "c.-26-65C>A" "r.(=)" "p.(=)" "" "0000520073" "00021780" "50" "139" "0" "139" "0" "c.139G>A" "r.(?)" "p.(Gly47Ser)" "" "0000520073" "00024308" "50" "-26" "-1" "-26" "-1" "c.-26-1G>A" "r.spl?" "p.?" "" "0000520074" "00021780" "30" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Thr55Ile)" "" "0000520074" "00024308" "30" "-2" "0" "-2" "0" "c.-2C>T" "r.(?)" "p.(=)" "" "0000520075" "00021780" "50" "166" "0" "166" "0" "c.166A>G" "r.(?)" "p.(Met56Val)" "" "0000520075" "00024308" "50" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000520076" "00021780" "30" "307" "0" "307" "0" "c.307C>T" "r.(?)" "p.(Pro103Ser)" "" "0000520076" "00024308" "30" "142" "0" "142" "0" "c.142C>T" "r.(?)" "p.(Pro48Ser)" "" "0000520077" "00021780" "70" "309" "0" "309" "0" "c.309dup" "r.(?)" "p.(Thr104HisfsTer53)" "" "0000520077" "00024308" "70" "144" "0" "144" "0" "c.144dup" "r.(?)" "p.(Thr49HisfsTer53)" "" "0000520078" "00021780" "30" "310" "0" "310" "0" "c.310A>C" "r.(?)" "p.(Thr104Pro)" "" "0000520078" "00024308" "30" "145" "0" "145" "0" "c.145A>C" "r.(?)" "p.(Thr49Pro)" "" "0000520079" "00021780" "10" "363" "0" "363" "0" "c.363G>A" "r.(?)" "p.(Lys121=)" "" "0000520079" "00024308" "10" "198" "0" "198" "0" "c.198G>A" "r.(?)" "p.(Lys66=)" "" "0000520080" "00021780" "30" "504" "0" "504" "0" "c.504G>A" "r.(?)" "p.(Arg168=)" "" "0000520080" "00024308" "30" "339" "0" "339" "0" "c.339G>A" "r.(?)" "p.(Arg113=)" "" "0000520081" "00021780" "70" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169His)" "" "0000520081" "00024308" "70" "341" "0" "341" "0" "c.341G>A" "r.(?)" "p.(Arg114His)" "" "0000520082" "00021780" "90" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169His)" "" "0000520082" "00024308" "90" "341" "0" "341" "0" "c.341G>A" "r.(?)" "p.(Arg114His)" "" "0000520083" "00021780" "90" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169His)" "" "0000520083" "00024308" "90" "341" "0" "341" "0" "c.341G>A" "r.(?)" "p.(Arg114His)" "" "0000520084" "00021780" "70" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169His)" "" "0000520084" "00024308" "70" "341" "0" "341" "0" "c.341G>A" "r.(?)" "p.(Arg114His)" "" "0000520085" "00021780" "30" "552" "0" "552" "0" "c.552C>T" "r.(?)" "p.(Tyr184=)" "" "0000520085" "00024308" "30" "387" "0" "387" "0" "c.387C>T" "r.(?)" "p.(Tyr129=)" "" "0000520086" "00021780" "30" "552" "0" "552" "0" "c.552C>T" "r.(?)" "p.(Tyr184=)" "" "0000520086" "00024308" "30" "387" "0" "387" "0" "c.387C>T" "r.(?)" "p.(Tyr129=)" "" "0000520087" "00021780" "50" "572" "0" "572" "0" "c.572C>T" "r.(?)" "p.(Ala191Val)" "" "0000520087" "00024308" "50" "407" "0" "407" "0" "c.407C>T" "r.(?)" "p.(Ala136Val)" "" "0000520088" "00021780" "10" "627" "0" "627" "0" "c.627T>C" "r.(?)" "p.(Asp209=)" "" "0000520088" "00024308" "10" "462" "0" "462" "0" "c.462T>C" "r.(?)" "p.(Asp154=)" "" "0000520089" "00021780" "70" "655" "0" "655" "0" "c.655C>T" "r.(?)" "p.(Arg219Ter)" "" "0000520089" "00024308" "70" "490" "0" "490" "0" "c.490C>T" "r.(?)" "p.(Arg164Ter)" "" "0000520090" "00021780" "50" "788" "0" "788" "0" "c.788G>C" "r.(?)" "p.(Cys263Ser)" "" "0000520090" "00024308" "50" "623" "0" "623" "0" "c.623G>C" "r.(?)" "p.(Cys208Ser)" "" "0000520091" "00021780" "10" "844" "0" "844" "0" "c.844G>A" "r.(?)" "p.(Gly282Ser)" "" "0000520091" "00024308" "10" "679" "0" "679" "0" "c.679G>A" "r.(?)" "p.(Gly227Ser)" "" "0000520092" "00021780" "30" "844" "0" "844" "0" "c.844G>A" "r.(?)" "p.(Gly282Ser)" "" "0000520092" "00024308" "30" "679" "0" "679" "0" "c.679G>A" "r.(?)" "p.(Gly227Ser)" "" "0000520093" "00021780" "10" "885" "0" "885" "0" "c.885G>A" "r.(?)" "p.(Arg295=)" "" "0000520093" "00024308" "10" "720" "0" "720" "0" "c.720G>A" "r.(?)" "p.(Arg240=)" "" "0000520094" "00021780" "30" "885" "0" "885" "0" "c.885G>A" "r.(?)" "p.(Arg295=)" "" "0000520094" "00024308" "30" "720" "0" "720" "0" "c.720G>A" "r.(?)" "p.(Arg240=)" "" "0000520095" "00021780" "30" "916" "0" "916" "0" "c.916A>G" "r.(?)" "p.(Thr306Ala)" "" "0000520095" "00024308" "30" "751" "0" "751" "0" "c.751A>G" "r.(?)" "p.(Thr251Ala)" "" "0000520096" "00021780" "30" "962" "0" "962" "0" "c.962A>G" "r.(?)" "p.(Glu321Gly)" "" "0000520096" "00024308" "30" "797" "0" "797" "0" "c.797A>G" "r.(?)" "p.(Glu266Gly)" "" "0000520097" "00021780" "50" "962" "0" "962" "0" "c.962A>G" "r.(?)" "p.(Glu321Gly)" "" "0000520097" "00024308" "50" "797" "0" "797" "0" "c.797A>G" "r.(?)" "p.(Glu266Gly)" "" "0000520098" "00021780" "30" "962" "0" "962" "0" "c.962A>G" "r.(?)" "p.(Glu321Gly)" "" "0000520098" "00024308" "30" "797" "0" "797" "0" "c.797A>G" "r.(?)" "p.(Glu266Gly)" "" "0000520099" "00021780" "10" "962" "0" "962" "0" "c.962A>G" "r.(?)" "p.(Glu321Gly)" "" "0000520099" "00024308" "10" "797" "0" "797" "0" "c.797A>G" "r.(?)" "p.(Glu266Gly)" "" "0000520100" "00021780" "90" "1033" "0" "1050" "0" "c.1033_1050del" "r.(?)" "p.(Pro345_Ala350del)" "" "0000520100" "00024308" "90" "868" "0" "885" "0" "c.868_885del" "r.(?)" "p.(Pro290_Ala295del)" "" "0000608759" "00021780" "50" "1081" "0" "1081" "0" "c.1081G>A" "r.(?)" "p.(Gly361Arg)" "" "0000608759" "00024308" "50" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Gly306Arg)" "" "0000653521" "00024308" "90" "341" "0" "341" "0" "c.341G>A" "r.(?)" "p.(Arg114His)" "" "0000654978" "00021780" "50" "-19438" "0" "-19438" "0" "c.-19438C>T" "r.(?)" "p.(=)" "" "0000654978" "00024308" "50" "-19283" "0" "-19283" "0" "c.-19283C>T" "r.(?)" "p.(=)" "" "0000654979" "00021780" "50" "1021" "0" "1021" "0" "c.1021G>A" "r.(?)" "p.(Gly341Arg)" "" "0000654979" "00024308" "50" "856" "0" "856" "0" "c.856G>A" "r.(?)" "p.(Gly286Arg)" "" "0000654980" "00021780" "50" "1100" "0" "1100" "0" "c.1100C>G" "r.(?)" "p.(Pro367Arg)" "" "0000654980" "00024308" "50" "935" "0" "935" "0" "c.935C>G" "r.(?)" "p.(Pro312Arg)" "" "0000677020" "00021780" "30" "-2686" "0" "-2686" "0" "c.-2686C>T" "r.(?)" "p.(=)" "" "0000677020" "00024308" "30" "-2531" "0" "-2531" "0" "c.-2531C>T" "r.(?)" "p.(=)" "" "0000677021" "00021780" "50" "208" "0" "210" "0" "c.208_210dup" "r.(?)" "p.(Ile70dup)" "" "0000677021" "00024308" "50" "43" "0" "45" "0" "c.43_45dup" "r.(?)" "p.(Ile15dup)" "" "0000677022" "00021780" "50" "553" "0" "553" "0" "c.553G>A" "r.(?)" "p.(Asp185Asn)" "" "0000677022" "00024308" "50" "388" "0" "388" "0" "c.388G>A" "r.(?)" "p.(Asp130Asn)" "" "0000683674" "00021780" "90" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152His)" "" "0000689100" "00021780" "90" "309" "0" "309" "0" "c.309del" "r.(?)" "p.(Thr104ProfsTer16)" "" "0000689100" "00024308" "90" "144" "0" "144" "0" "c.144del" "r.(?)" "p.(Thr49ProfsTer16)" "" "0000689101" "00021780" "30" "582" "0" "582" "0" "c.582T>C" "r.(?)" "p.(Ala194=)" "" "0000689101" "00024308" "30" "417" "0" "417" "0" "c.417T>C" "r.(?)" "p.(Ala139=)" "" "0000689102" "00021780" "30" "651" "0" "651" "0" "c.651G>A" "r.(?)" "p.(Leu217=)" "" "0000689102" "00024308" "30" "486" "0" "486" "0" "c.486G>A" "r.(?)" "p.(Leu162=)" "" "0000703994" "00021780" "50" "547" "0" "547" "0" "c.547C>T" "r.(?)" "p.(Arg183Cys)" "" "0000703994" "00024308" "50" "382" "0" "382" "0" "c.382C>T" "r.(?)" "p.(Arg128Cys)" "2" "0000713953" "00021780" "90" "746" "0" "746" "0" "c.746C>G" "r.(?)" "p.(Ser249Leu)" "" "0000713996" "00021780" "50" "260" "0" "260" "0" "c.260C>T" "r.(?)" "p.(Thr87Met)" "" "0000713999" "00021780" "70" "457" "0" "457" "0" "c.457dup" "r.(?)" "p.(Gln153Profs*4)" "" "0000719474" "00021780" "50" "1088" "0" "1088" "0" "c.1088C>G" "r.(?)" "p.(Ser363Cys)" "" "0000719474" "00024308" "50" "923" "0" "923" "0" "c.923C>G" "r.(?)" "p.(Ser308Cys)" "" "0000765445" "00021780" "90" "459" "0" "459" "0" "c.459dup" "r.(?)" "p.(Cys154MetfsTer3)" "" "0000765500" "00021780" "70" "16" "0" "16" "0" "c.16C>T" "r.(?)" "p.(Arg6Cys)" "" "0000786659" "00021780" "70" "562" "0" "562" "0" "c.562del" "r.(?)" "p.(Leu188CysfsTer27)" "" "0000787421" "00021780" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "2" "0000793753" "00021780" "70" "581" "0" "581" "0" "c.581C>G" "r.(?)" "p.(Ala194Gly)" "1" "0000793787" "00021780" "70" "459" "0" "459" "0" "c.459dup" "r.(?)" "p.(Cys154Metfs*3)" "1" "0000793799" "00021780" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "1" "0000797395" "00021780" "70" "628" "0" "631" "0" "c.628_631dup" "r.(?)" "p.(Ile211Lysfs*44)" "" "0000801264" "00021780" "50" "-1573" "0" "-1573" "0" "c.-1573C>T" "r.(?)" "p.(=)" "" "0000801264" "00024308" "50" "-1418" "0" "-1418" "0" "c.-1418C>T" "r.(?)" "p.(=)" "" "0000801265" "00021780" "30" "-1419" "0" "-1419" "0" "c.-1419C>T" "r.(?)" "p.(=)" "" "0000801265" "00024308" "30" "-1264" "0" "-1264" "0" "c.-1264C>T" "r.(?)" "p.(=)" "" "0000801266" "00021780" "30" "91" "0" "91" "0" "c.91C>T" "r.(?)" "p.(Arg31Trp)" "" "0000801266" "00024308" "30" "-26" "-49" "-26" "-49" "c.-26-49C>T" "r.(=)" "p.(=)" "" "0000801267" "00021780" "30" "192" "0" "192" "0" "c.192G>A" "r.(?)" "p.(Gly64=)" "" "0000801267" "00024308" "30" "27" "0" "27" "0" "c.27G>A" "r.(?)" "p.(Gly9=)" "" "0000801268" "00021780" "50" "628" "0" "628" "0" "c.628A>G" "r.(?)" "p.(Ser210Gly)" "" "0000801268" "00024308" "50" "463" "0" "463" "0" "c.463A>G" "r.(?)" "p.(Ser155Gly)" "" "0000801269" "00021780" "50" "788" "0" "788" "0" "c.788G>C" "r.(?)" "p.(Cys263Ser)" "" "0000801269" "00024308" "50" "623" "0" "623" "0" "c.623G>C" "r.(?)" "p.(Cys208Ser)" "" "0000821018" "00021780" "70" "539" "0" "539" "0" "c.539A>G" "r.(?)" "p.(Asn180Ser)" "" "0000821018" "00024308" "70" "374" "0" "374" "0" "c.374A>G" "r.(?)" "p.(Asn125Ser)" "" "0000825072" "00021780" "70" "1021" "0" "1030" "0" "c.1021_1030dup" "r.(?)" "p.(Ala344GlyfsTer39)" "" "0000825072" "00024308" "70" "856" "0" "865" "0" "c.856_865dup" "r.(?)" "p.(Ala289Glyfs*39)" "" "0000850355" "00021780" "30" "348" "0" "348" "0" "c.348G>A" "r.(?)" "p.(=)" "" "0000850355" "00024308" "30" "183" "0" "183" "0" "c.183G>A" "r.(?)" "p.(Pro61=)" "" "0000850356" "00021780" "30" "513" "0" "513" "0" "c.513A>G" "r.(?)" "p.(=)" "" "0000850356" "00024308" "30" "348" "0" "348" "0" "c.348A>G" "r.(?)" "p.(Pro116=)" "" "0000850357" "00021780" "50" "904" "0" "904" "0" "c.904G>C" "r.(?)" "p.(Ala302Pro)" "" "0000850357" "00024308" "50" "739" "0" "739" "0" "c.739G>C" "r.(?)" "p.(Ala247Pro)" "" "0000859052" "00021780" "30" "-1583" "0" "-1583" "0" "c.-1583C>G" "r.(?)" "p.(=)" "" "0000859052" "00024308" "30" "-1428" "0" "-1428" "0" "c.-1428C>G" "r.(?)" "p.(=)" "" "0000859053" "00021780" "30" "72" "0" "72" "0" "c.72T>A" "r.(?)" "p.(=)" "" "0000859053" "00024308" "30" "-26" "-68" "-26" "-68" "c.-26-68T>A" "r.(=)" "p.(=)" "" "0000859054" "00021780" "10" "363" "0" "363" "0" "c.363G>A" "r.(?)" "p.(Lys121=)" "" "0000859054" "00024308" "10" "198" "0" "198" "0" "c.198G>A" "r.(?)" "p.(Lys66=)" "" "0000859055" "00021780" "30" "446" "0" "446" "0" "c.446C>T" "r.(?)" "p.(Ala149Val)" "" "0000859055" "00024308" "30" "281" "0" "281" "0" "c.281C>T" "r.(?)" "p.(Ala94Val)" "" "0000859056" "00021780" "70" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152His)" "" "0000859056" "00024308" "70" "290" "0" "290" "0" "c.290G>A" "r.(?)" "p.(Arg97His)" "" "0000859057" "00021780" "30" "627" "0" "627" "0" "c.627T>C" "r.(?)" "p.(Asp209=)" "" "0000859057" "00024308" "30" "462" "0" "462" "0" "c.462T>C" "r.(?)" "p.(Asp154=)" "" "0000859058" "00021780" "50" "788" "0" "788" "0" "c.788G>C" "r.(?)" "p.(Cys263Ser)" "" "0000859058" "00024308" "50" "623" "0" "623" "0" "c.623G>C" "r.(?)" "p.(Cys208Ser)" "" "0000859059" "00021780" "30" "816" "0" "816" "0" "c.816G>A" "r.(?)" "p.(=)" "" "0000859059" "00024308" "30" "651" "0" "651" "0" "c.651G>A" "r.(?)" "p.(Arg217=)" "" "0000859060" "00021780" "30" "885" "0" "885" "0" "c.885G>C" "r.(?)" "p.(Arg295Ser)" "" "0000859060" "00024308" "30" "720" "0" "720" "0" "c.720G>C" "r.(?)" "p.(Arg240Ser)" "" "0000859061" "00021780" "30" "1077" "0" "1077" "0" "c.1077G>A" "r.(?)" "p.(Leu359=)" "" "0000859061" "00024308" "30" "912" "0" "912" "0" "c.912G>A" "r.(?)" "p.(Leu304=)" "" "0000885882" "00021780" "50" "185" "0" "185" "0" "c.185C>G" "r.(?)" "p.(Pro62Arg)" "" "0000885882" "00024308" "50" "20" "0" "20" "0" "c.20C>G" "r.(?)" "p.(Pro7Arg)" "" "0000885883" "00021780" "50" "239" "0" "239" "0" "c.239C>T" "r.(?)" "p.(Pro80Leu)" "" "0000885883" "00024308" "50" "74" "0" "74" "0" "c.74C>T" "r.(?)" "p.(Pro25Leu)" "" "0000885884" "00021780" "30" "309" "0" "309" "0" "c.309C>G" "r.(?)" "p.(=)" "" "0000885884" "00024308" "30" "144" "0" "144" "0" "c.144C>G" "r.(?)" "p.(Pro48=)" "" "0000885885" "00021780" "30" "594" "0" "594" "0" "c.594C>T" "r.(?)" "p.(=)" "" "0000885885" "00024308" "30" "429" "0" "429" "0" "c.429C>T" "r.(?)" "p.(Leu143=)" "" "0000885886" "00021780" "30" "844" "0" "844" "0" "c.844G>A" "r.(?)" "p.(Gly282Ser)" "" "0000885886" "00024308" "30" "679" "0" "679" "0" "c.679G>A" "r.(?)" "p.(Gly227Ser)" "" "0000885887" "00021780" "30" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Gly324Ser)" "" "0000885887" "00024308" "30" "805" "0" "805" "0" "c.805G>A" "r.(?)" "p.(Gly269Ser)" "" "0000885888" "00021780" "50" "1088" "0" "1088" "0" "c.1088C>G" "r.(?)" "p.(Ser363Cys)" "" "0000885888" "00024308" "50" "923" "0" "923" "0" "c.923C>G" "r.(?)" "p.(Ser308Cys)" "" "0000905981" "00021780" "90" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169His)" "" "0000905981" "00024308" "90" "341" "0" "341" "0" "c.341G>A" "r.(?)" "p.(Arg114His)" "" "0000911958" "00021780" "10" "696" "0" "696" "0" "c.696=" "r.(=)" "p.(Tyr232=)" "" "0000911958" "00024308" "10" "531" "0" "531" "0" "c.531=" "r.(=)" "p.(Tyr177=)" "" "0000911959" "00021780" "30" "816" "0" "816" "0" "c.816G>A" "r.(?)" "p.(=)" "" "0000911959" "00024308" "30" "651" "0" "651" "0" "c.651G>A" "r.(?)" "p.(Arg217=)" "" "0000923963" "00021780" "50" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Leu122Phe)" "" "0000923963" "00024308" "50" "199" "0" "199" "0" "c.199C>T" "r.(?)" "p.(Leu67Phe)" "" "0000923964" "00021780" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Ser245Phe)" "" "0000923964" "00024308" "50" "569" "0" "569" "0" "c.569C>T" "r.(?)" "p.(Ser190Phe)" "" "0000923965" "00021780" "10" "1077" "0" "1077" "0" "c.1077G>A" "r.(?)" "p.(Leu359=)" "" "0000923965" "00024308" "10" "912" "0" "912" "0" "c.912G>A" "r.(?)" "p.(Leu304=)" "" "0000928803" "00021780" "50" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Ala76Thr)" "" "0000928803" "00024308" "50" "61" "0" "61" "0" "c.61G>A" "r.(?)" "p.(Ala21Thr)" "" "0000928804" "00021780" "30" "465" "0" "465" "0" "c.465T>C" "r.(?)" "p.(=)" "" "0000928804" "00024308" "30" "300" "0" "300" "0" "c.300T>C" "r.(?)" "p.(=)" "" "0000948182" "00021780" "90" "309" "0" "309" "0" "c.309dup" "r.(?)" "p.(Thr104HisfsTer53)" "" "0000948182" "00024308" "90" "144" "0" "144" "0" "c.144dup" "r.(?)" "p.(Thr49HisfsTer53)" "" "0000948183" "00021780" "50" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Leu163Phe)" "" "0000948183" "00024308" "50" "322" "0" "322" "0" "c.322C>T" "r.(?)" "p.(Leu108Phe)" "" "0000962811" "00021780" "50" "197" "0" "197" "0" "c.197T>C" "r.(?)" "p.(Met66Thr)" "" "0000962811" "00024308" "50" "32" "0" "32" "0" "c.32T>C" "r.(?)" "p.(Met11Thr)" "" "0000975871" "00021780" "50" "256" "0" "256" "0" "c.256G>A" "r.(?)" "p.(Val86Ile)" "" "0000975871" "00024308" "50" "91" "0" "91" "0" "c.91G>A" "r.(?)" "p.(Val31Ile)" "" "0000975872" "00021780" "30" "447" "0" "447" "0" "c.447G>A" "r.(?)" "p.(=)" "" "0000975872" "00024308" "30" "282" "0" "282" "0" "c.282G>A" "r.(?)" "p.(=)" "" "0000975873" "00021780" "70" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169His)" "" "0000975873" "00024308" "70" "341" "0" "341" "0" "c.341G>A" "r.(?)" "p.(Arg114His)" "" "0000975874" "00021780" "50" "832" "0" "832" "0" "c.832G>A" "r.(?)" "p.(Ala278Thr)" "" "0000975874" "00024308" "50" "667" "0" "667" "0" "c.667G>A" "r.(?)" "p.(Ala223Thr)" "" "0000975875" "00021780" "50" "1088" "0" "1088" "0" "c.1088C>G" "r.(?)" "p.(Ser363Cys)" "" "0000975875" "00024308" "50" "923" "0" "923" "0" "c.923C>G" "r.(?)" "p.(Ser308Cys)" "" "0000993751" "00021780" "30" "185" "0" "185" "0" "c.185C>G" "r.(?)" "p.(Pro62Arg)" "" "0000993751" "00024308" "30" "20" "0" "20" "0" "c.20C>G" "r.(?)" "p.(Pro7Arg)" "" "0000993752" "00021780" "50" "718" "0" "718" "0" "c.718C>T" "r.(?)" "p.(Arg240Cys)" "" "0000993752" "00024308" "50" "553" "0" "553" "0" "c.553C>T" "r.(?)" "p.(Arg185Cys)" "" "0000993753" "00021780" "50" "800" "0" "800" "0" "c.800C>A" "r.(?)" "p.(Pro267Gln)" "" "0000993753" "00024308" "50" "635" "0" "635" "0" "c.635C>A" "r.(?)" "p.(Pro212Gln)" "" "0000993754" "00021780" "30" "1107" "0" "1107" "0" "c.1107G>T" "r.(?)" "p.(Glu369Asp)" "" "0000993754" "00024308" "30" "942" "0" "942" "0" "c.942G>T" "r.(?)" "p.(Glu314Asp)" "" "0001013899" "00021780" "50" "197" "0" "197" "0" "c.197T>C" "r.(?)" "p.(Met66Thr)" "" "0001013899" "00024308" "50" "32" "0" "32" "0" "c.32T>C" "r.(?)" "p.(Met11Thr)" "" "0001013900" "00021780" "50" "718" "0" "718" "0" "c.718C>T" "r.(?)" "p.(Arg240Cys)" "" "0001013900" "00024308" "50" "553" "0" "553" "0" "c.553C>T" "r.(?)" "p.(Arg185Cys)" "" "0001013901" "00021780" "30" "844" "0" "844" "0" "c.844G>A" "r.(?)" "p.(Gly282Ser)" "" "0001013901" "00024308" "30" "679" "0" "679" "0" "c.679G>A" "r.(?)" "p.(Gly227Ser)" "" "0001013902" "00021780" "50" "904" "0" "904" "0" "c.904G>C" "r.(?)" "p.(Ala302Pro)" "" "0001013902" "00024308" "50" "739" "0" "739" "0" "c.739G>C" "r.(?)" "p.(Ala247Pro)" "" "0001013903" "00021780" "30" "911" "0" "911" "0" "c.911C>A" "r.(?)" "p.(Thr304Lys)" "" "0001013903" "00024308" "30" "746" "0" "746" "0" "c.746C>A" "r.(?)" "p.(Thr249Lys)" "" "0001034005" "00021780" "50" "139" "0" "139" "0" "c.139G>A" "r.(?)" "p.(Gly47Ser)" "" "0001034005" "00024308" "50" "-26" "-1" "-26" "-1" "c.-26-1G>A" "r.spl?" "p.?" "" "0001034006" "00021780" "70" "401" "0" "408" "0" "c.401_408dup" "r.(?)" "p.(Ser137Leufs*9)" "" "0001034006" "00024308" "70" "236" "0" "243" "0" "c.236_243dup" "r.(?)" "p.(Ser82Leufs*9)" "" "0001034007" "00021780" "50" "454" "0" "454" "0" "c.454C>A" "r.(?)" "p.(Arg152Ser)" "" "0001034007" "00024308" "50" "289" "0" "289" "0" "c.289C>A" "r.(?)" "p.(Arg97Ser)" "" "0001034008" "00021780" "50" "1034" "0" "1034" "0" "c.1034C>T" "r.(?)" "p.(Pro345Leu)" "" "0001034008" "00024308" "50" "869" "0" "869" "0" "c.869C>T" "r.(?)" "p.(Pro290Leu)" "" "0001045927" "00021780" "50" "904" "0" "904" "0" "c.904G>C" "r.(?)" "p.(Ala302Pro)" "" "0001045927" "00024308" "50" "739" "0" "739" "0" "c.739G>C" "r.(?)" "p.(Ala247Pro)" "" "0001051309" "00021780" "90" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152His)" "" "0001051309" "00024308" "90" "290" "0" "290" "0" "c.290G>A" "r.(?)" "p.(Arg97His)" "" "0001051310" "00021780" "50" "718" "0" "718" "0" "c.718C>T" "r.(?)" "p.(Arg240Cys)" "" "0001051310" "00024308" "50" "553" "0" "553" "0" "c.553C>T" "r.(?)" "p.(Arg185Cys)" "" "0001051311" "00021780" "50" "844" "0" "844" "0" "c.844G>A" "r.(?)" "p.(Gly282Ser)" "" "0001051311" "00024308" "50" "679" "0" "679" "0" "c.679G>A" "r.(?)" "p.(Gly227Ser)" "" "0001051312" "00021780" "50" "904" "0" "904" "0" "c.904G>C" "r.(?)" "p.(Ala302Pro)" "" "0001051312" "00024308" "50" "739" "0" "739" "0" "c.739G>C" "r.(?)" "p.(Ala247Pro)" "" "0001051313" "00021780" "50" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Gly324Ser)" "" "0001051313" "00024308" "50" "805" "0" "805" "0" "c.805G>A" "r.(?)" "p.(Gly269Ser)" "" "0001051314" "00021780" "50" "1072" "0" "1072" "0" "c.1072A>C" "r.(?)" "p.(Thr358Pro)" "" "0001051314" "00024308" "50" "907" "0" "907" "0" "c.907A>C" "r.(?)" "p.(Thr303Pro)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 95 "{{screeningid}}" "{{variantid}}" "0000112779" "0000181544" "0000112779" "0000181545" "0000112780" "0000181495" "0000112781" "0000181498" "0000112782" "0000181496" "0000112783" "0000181497" "0000112784" "0000181500" "0000112785" "0000181501" "0000112785" "0000181535" "0000112786" "0000181502" "0000112787" "0000181499" "0000112788" "0000181481" "0000112788" "0000181537" "0000112789" "0000181506" "0000112789" "0000181541" "0000112790" "0000181527" "0000112791" "0000181528" "0000112792" "0000181507" "0000112793" "0000181508" "0000112794" "0000181482" "0000112794" "0000181509" "0000112795" "0000181478" "0000112796" "0000181479" "0000112797" "0000181480" "0000112797" "0000181536" "0000112798" "0000181483" "0000112798" "0000181538" "0000112799" "0000181484" "0000112799" "0000181539" "0000112800" "0000181485" "0000112800" "0000181540" "0000112801" "0000181486" "0000112802" "0000181487" "0000112802" "0000181546" "0000112803" "0000181504" "0000112804" "0000181510" "0000112805" "0000181489" "0000112806" "0000181490" "0000112807" "0000181511" "0000112808" "0000181517" "0000112809" "0000181519" "0000112810" "0000181491" "0000112811" "0000181529" "0000112812" "0000181518" "0000112813" "0000181542" "0000112814" "0000181530" "0000112815" "0000181492" "0000112816" "0000181531" "0000112817" "0000181488" "0000112818" "0000181503" "0000112819" "0000181512" "0000112820" "0000181513" "0000112821" "0000181514" "0000112822" "0000181520" "0000112823" "0000181521" "0000112824" "0000181522" "0000112824" "0000181543" "0000112825" "0000181473" "0000112826" "0000181475" "0000112827" "0000181523" "0000112828" "0000181474" "0000112829" "0000181524" "0000112830" "0000181476" "0000112831" "0000181477" "0000112832" "0000181532" "0000112833" "0000181515" "0000112834" "0000181516" "0000112835" "0000181525" "0000112836" "0000181505" "0000112837" "0000181534" "0000112838" "0000181493" "0000112839" "0000181494" "0000112840" "0000181526" "0000112841" "0000181533" "0000112843" "0000181470" "0000112843" "0000181471" "0000112844" "0000181472" "0000211056" "0000442474" "0000296809" "0000653521" "0000309174" "0000683674" "0000321189" "0000703994" "0000329581" "0000713999" "0000329605" "0000713953" "0000329648" "0000713996" "0000364580" "0000765445" "0000364598" "0000765500" "0000375318" "0000786659" "0000376070" "0000787421" "0000380601" "0000793753" "0000380635" "0000793787" "0000380647" "0000793799" "0000383334" "0000797395" "0000391282" "0000821018" "0000394161" "0000825072" "0000428266" "0000905981"