### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DLG3) # 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}}" "DLG3" "discs, large homolog 3 (Drosophila)" "X" "q13.1" "unknown" "NG_015849.2" "UD_132118292188" "" "https://www.LOVD.nl/DLG3" "" "1" "2902" "1741" "300189" "1" "1" "1" "1" "The establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement nº 200754 - the GEN2PHEN project. The database was initiated associated with Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543." "" "g" "http://databases.lovd.nl/shared/refseq/DLG3_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2012-05-01 00:00:00" "00006" "2020-05-11 17:07:58" "00000" "2024-05-16 14:19:03" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000007" "DLG3" "discs, large homolog 3 (Drosophila), transcript variant 1" "001" "NM_021120.3" "" "NP_066943.2" "" "" "" "-347" "5675" "2454" "69664705" "69725340" "00002" "2012-05-11 13:11:48" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00827" "MRX90" "mental retardation, X-linked, type 90 (MRX90)" "XLR" "300850" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-05-11 17:07:41" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "DLG3" "00139" "DLG3" "00827" ## Individuals ## Do not remove or alter this header ## ## Count = 16 "{{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}}" "00000029" "" "" "" "1" "" "00004" "{PMID:Almomani 2011:21102627}" "" "" "" "" "" "0" "" "" "" "" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00016952" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377120-Pat?" "00016953" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377121-Pat?" "00017021" "" "" "" "1" "" "00714" "{PMID:Tzschach 2015:25649377}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "" "" "" "0" "" "" "?" "Pat15" "00058821" "" "" "" "10" "" "01528" "{PMID:Kumar 2016:27222290}, {DOI:Kumar 2016:10.1038/ejhg.2016.46}" "6-generation family with mutliple affected" "M" "no" "Australia" "" "0" "" "" "" "" "00183099" "" "" "" "2" "" "00006" "{PMID:Hu 2016:25644381}" "family, 2 affected, 2 unaffected heterozygous carrier females" "M" "" "" "" "0" "" "" "" "25644381-FamP130" "00183148" "" "" "" "6" "" "00006" "{PMID:Hu 2016:25644381}" "family, 6 affected, 2 unaffected heterozygous carrier females" "M" "" "" "" "0" "" "" "" "25644381-FamN31" "00183149" "" "" "" "3" "" "00006" "{PMID:Philips 2014:24721225}, {PMID:Hu 2016:25644381}" "5-generation family, 3 affected, 3 unaffected heterozygous carrier females" "M" "" "Finland" "" "0" "" "" "" "FamD172" "00183150" "" "" "" "5" "" "00006" "{PMID:Philips 2014:24721225}, {PMID:Hu 2016:25644381}" "5-generation family, 5 affected, 5 unaffected heterozygous carrier females" "M" "" "Finland" "" "0" "" "" "" "FamD301" "00269888" "" "" "" "1" "" "01807" "" "" "?" "" "" "" "0" "" "" "" "" "00289308" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00303962" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00403864" "" "" "" "2" "" "00006" "{PMID:Froukh 2020:32056211}" "analysis 103 families with neurodevelopmental disorders; family, 2 affected sibs" "M" "" "Jordan" "" "0" "" "" "" "TF042_1" "00419583" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "2-generation family, patient with carrier mother" "M" "" "Greece" "" "0" "" "" "" "8068" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00016952" "00187" "00016953" "00187" "00017021" "00187" "00058821" "00187" "00183099" "00187" "00183148" "00187" "00183149" "00187" "00183150" "00187" "00269888" "00198" "00289308" "00198" "00303962" "00198" "00403864" "05611" "00419583" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 00198, 00827, 01157, 05611 ## Count = 15 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{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}}" "0000015311" "00187" "00016952" "00124" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015312" "00187" "00016953" "00124" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015380" "00187" "00017021" "00714" "Familial, X-linked recessive" "03y" "mild-moderate intellectual disability, 3y-seizures, no malformations, no facial dysmorphism, MRI brain normal" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000046730" "00187" "00058821" "01528" "Familial, X-linked" "" "The individual had non-syndromic X-linked intellectual disability with no observable clinical features noted" "" "" "" "" "" "" "" "" "" "" "" "" "0000143853" "00187" "00183099" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000143902" "00187" "00183148" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000143903" "00187" "00183149" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000143904" "00187" "00183150" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000207684" "00198" "00269888" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Macrocephaly (HP:0000256); Hypertrichosis (HP:0000998)" "" "" "" "" "" "" "" "" "" "" "" "" "0000222939" "00198" "00289308" "01807" "Unknown" "" "Intellectual disability (HP:0001249); Behavioral abnormality (HP:0000708); Aggressive behavior (HP:0000718); Delayed speech and language development (HP:0000750)" "" "" "" "" "" "" "" "" "" "" "" "" "0000231022" "00198" "00303962" "01807" "Unknown" "" "Delayed speech and language development (HP:0000750); Specific learning disability (HP:0001328); Cognitive impairment (HP:0100543)" "" "" "" "" "" "" "" "" "" "" "" "" "0000296544" "05611" "00403864" "00006" "Familial, X-linked recessive" "" "macrocephaly, delayed motor development, moderate intellectual disability" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000310864" "00198" "00419583" "02300" "Familial, X-linked recessive" "7y" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental abnormality" "" ## Screenings ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000029" "00000029" "1" "00004" "" "2012-05-11 13:18:42" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000016929" "00016952" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000016930" "00016953" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000016998" "00017021" "1" "00714" "00001" "2014-06-04 13:42:23" "" "" "SEQ" "DNA" "" "" "0000058785" "00058821" "1" "01528" "01528" "2016-02-04 07:45:07" "" "" "SEQ-NG" "DNA" "ThuongHa" "" "0000184057" "00183099" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000184106" "00183148" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000184107" "00183149" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000184108" "00183150" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000271041" "00269888" "1" "01807" "01807" "2019-12-10 12:31:45" "" "" "SEQ" "DNA" "" "" "0000290478" "00289308" "1" "01807" "01807" "2020-03-02 12:47:13" "" "" "SEQ" "DNA" "" "" "0000305091" "00303962" "1" "01807" "01807" "2020-06-22 08:45:01" "" "" "SEQ" "DNA" "" "" "0000405102" "00403864" "1" "00006" "00006" "2022-02-24 16:43:58" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000420887" "00419583" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 38 "{{screeningid}}" "{{geneid}}" "0000000029" "ALG9" "0000000029" "ASPM" "0000000029" "B3GLCT" "0000000029" "BBS1" "0000000029" "CBS" "0000000029" "CC2D1A" "0000000029" "CDK5RAP2" "0000000029" "DLG3" "0000000029" "DNMT3B" "0000000029" "DPM1" "0000000029" "DPP3" "0000000029" "GLI3" "0000000029" "JAG1" "0000000029" "KRAS" "0000000029" "MECP2" "0000000029" "MPDU1" "0000000029" "NLGN4X" "0000000029" "NSD1" "0000000029" "PHF8" "0000000029" "PMM2" "0000000029" "RAI1" "0000000029" "REST" "0000000029" "SATB2" "0000000029" "SCN8A" "0000000029" "SHANK3" "0000000029" "SLC35C1" "0000000029" "TCF4" "0000000029" "TSC1" "0000000029" "UPF3B" "0000000029" "ZEB2" "0000000029" "ZNF41" "0000016929" "DLG3" "0000016930" "DLG3" "0000016998" "DLG3" "0000184057" "DLG3" "0000184106" "DLG3" "0000184107" "DLG3" "0000184108" "DLG3" ## 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 = 87 "{{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}}" "0000001304" "3" "50" "X" "69673811" "69673811" "subst" "0" "00002" "DLG3_000004" "g.69673811T>C" "" "{PMID:Almomani 2011:21102627}" "" "" "" "Germline" "" "rs2274309" "0" "" "" "g.70453961T>C" "" "VUS" "" "0000001305" "3" "50" "X" "69724094" "69724094" "subst" "0" "00002" "DLG3_000005" "g.69724094G>A" "" "{PMID:Almomani 2011:21102627}" "" "" "" "Germline" "" "rs1044422" "0" "" "" "g.70504244G>A" "" "VUS" "" "0000001997" "20" "50" "X" "69718534" "69718537" "del" "0" "00037" "DLG3_000013" "g.69718534_69718537del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70498684_70498687del" "" "VUS" "" "0000001998" "0" "50" "X" "69723460" "69723460" "dup" "0" "00037" "DLG3_000018" "g.69723460dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70503610dup" "" "VUS" "" "0000003032" "0" "50" "X" "69713187" "69713187" "dup" "0" "00037" "DLG3_000033" "g.69713187dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70493337dup" "" "VUS" "" "0000003033" "20" "50" "X" "69718533" "69718536" "del" "0" "00037" "DLG3_000031" "g.69718533_69718536del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70498683_70498686del" "" "VUS" "" "0000007082" "20" "50" "X" "69672462" "69672462" "subst" "0.27448" "00037" "DLG3_000028" "g.69672462G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70452612G>C" "" "VUS" "" "0000007083" "20" "50" "X" "69672655" "69672655" "subst" "0.48765" "00037" "DLG3_000030" "g.69672655T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70452805T>C" "" "VUS" "" "0000007084" "20" "50" "X" "69673811" "69673811" "subst" "0" "00037" "DLG3_000004" "g.69673811T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70453961T>C" "" "VUS" "" "0000007085" "20" "50" "X" "69698723" "69698723" "subst" "0" "00037" "DLG3_000003" "g.69698723C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70478873C>T" "" "VUS" "" "0000007086" "20" "50" "X" "69716727" "69716727" "subst" "0" "00037" "DLG3_000006" "g.69716727G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70496877G>C" "" "VUS" "" "0000007087" "20" "50" "X" "69718314" "69718314" "subst" "0" "00037" "DLG3_000008" "g.69718314C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70498464C>T" "" "VUS" "" "0000007088" "20" "50" "X" "69719575" "69719575" "subst" "0" "00037" "DLG3_000015" "g.69719575C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70499725C>T" "" "VUS" "" "0000007089" "20" "50" "X" "69724094" "69724094" "subst" "0" "00037" "DLG3_000005" "g.69724094G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70504244G>A" "" "VUS" "" "0000007090" "20" "50" "X" "69724731" "69724731" "subst" "0" "00037" "DLG3_000022" "g.69724731G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70504881G>T" "" "VUS" "" "0000009171" "20" "50" "X" "69673811" "69673811" "subst" "0" "00037" "DLG3_000004" "g.69673811T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70453961T>C" "" "VUS" "" "0000009172" "20" "50" "X" "69698723" "69698723" "subst" "0" "00037" "DLG3_000003" "g.69698723C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70478873C>T" "" "VUS" "" "0000009173" "20" "50" "X" "69718314" "69718314" "subst" "0" "00037" "DLG3_000008" "g.69718314C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70498464C>T" "" "VUS" "" "0000009174" "20" "50" "X" "69718534" "69718537" "del" "0" "00037" "DLG3_000013" "g.69718534_69718537del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70498684_70498687del" "" "VUS" "" "0000009175" "20" "50" "X" "69719575" "69719575" "subst" "0" "00037" "DLG3_000015" "g.69719575C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70499725C>T" "" "VUS" "" "0000009176" "20" "50" "X" "69724094" "69724094" "subst" "0" "00037" "DLG3_000005" "g.69724094G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70504244G>A" "" "VUS" "" "0000009177" "20" "50" "X" "69724731" "69724731" "subst" "0" "00037" "DLG3_000022" "g.69724731G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70504881G>T" "" "VUS" "" "0000011021" "20" "50" "X" "69718533" "69718536" "del" "0" "00037" "DLG3_000031" "g.69718533_69718536del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70498683_70498686del" "" "VUS" "" "0000015053" "20" "50" "X" "69672462" "69672462" "subst" "0.27448" "00037" "DLG3_000028" "g.69672462G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70452612G>C" "" "VUS" "" "0000015056" "20" "50" "X" "69716727" "69716727" "subst" "0" "00037" "DLG3_000006" "g.69716727G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70496877G>C" "" "VUS" "" "0000036892" "1" "55" "X" "69665355" "69665355" "subst" "0.00331773" "00124" "DLG3_000001" "g.69665355G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, non-recurrent change" "Germline" "?" "" "0" "" "" "g.70445505G>A" "" "VUS" "" "0000036893" "1" "35" "X" "69669229" "69669229" "subst" "0.00133419" "00124" "DLG3_000002" "g.69669229C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "F143F" "found once, non-recurrent change" "Germline" "?" "" "0" "" "" "g.70449379C>T" "" "likely benign" "" "0000036894" "21" "90" "X" "69669655" "69669655" "subst" "0" "00714" "DLG3_000007" "g.69669655C>T" "" "{PMID:Tzschach 2015:25649377}" "" "" "" "Germline" "?" "" "0" "" "" "g.70449805C>T" "" "pathogenic" "" "0000089472" "21" "70" "X" "69665044" "69665044" "dup" "0" "01528" "DLG3_000034" "g.69665044dup" "" "{PMID:Kumar 2016:27222290}, {DOI:Kumar 2016:10.1038/ejhg.2016.46}" "" "-14_-13insG" "" "Germline" "" "" "0" "" "" "g.70445194dup" "" "likely benign" "" "0000249277" "0" "10" "X" "69668463" "69668463" "subst" "0.521738" "02325" "DLG3_000038" "g.69668463A>G" "" "" "" "DLG3(NM_021120.4):c.358-300A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70448613A>G" "" "benign" "" "0000267414" "0" "30" "X" "69669205" "69669205" "subst" "0.00102167" "02325" "DLG3_000039" "g.69669205G>T" "" "" "" "DLG3(NM_020730.2):c.-3267G>T (p.(=)), DLG3(NM_021120.3):c.409-4G>T, DLG3(NM_021120.4):c.409-4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70449355G>T" "" "likely benign" "" "0000268695" "0" "90" "X" "69665143" "69665143" "del" "0" "02329" "DLG3_000036" "g.69665143del" "" "" "" "DLG3(NM_021120.4):c.92delG (p.G31Afs*90)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70445293del" "" "pathogenic" "" "0000275091" "0" "30" "X" "69699112" "69699112" "subst" "3.35708E-5" "01943" "DLG3_000042" "g.69699112C>G" "" "" "" "DLG3(NM_021120.3):c.1518C>G (p.V506=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70479262C>G" "" "likely benign" "" "0000275092" "0" "30" "X" "69719054" "69719054" "subst" "0.000269227" "01943" "DLG3_000044" "g.69719054G>A" "" "" "" "DLG3(NM_021120.3):c.1899G>A (p.L633=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70499204G>A" "" "likely benign" "" "0000275093" "0" "30" "X" "69665324" "69665324" "subst" "0" "01943" "DLG3_000037" "g.69665324G>A" "" "" "" "DLG3(NM_021120.3):c.273G>A (p.P91=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70445474G>A" "" "likely benign" "" "0000275094" "0" "30" "X" "69665355" "69665355" "subst" "0.00331773" "01943" "DLG3_000001" "g.69665355G>A" "" "" "" "DLG3(NM_021120.3):c.304G>A (p.G102S, p.(Gly102Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70445505G>A" "" "likely benign" "" "0000275095" "0" "30" "X" "69669205" "69669205" "subst" "0.00102167" "01943" "DLG3_000039" "g.69669205G>T" "" "" "" "DLG3(NM_020730.2):c.-3267G>T (p.(=)), DLG3(NM_021120.3):c.409-4G>T, DLG3(NM_021120.4):c.409-4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70449355G>T" "" "likely benign" "" "0000275096" "0" "10" "X" "69672519" "69672519" "subst" "0.00194545" "01943" "DLG3_000041" "g.69672519G>C" "" "" "" "DLG3(NM_001166278.1):c.-2639G>C (p.(=)), DLG3(NM_020730.2):c.48G>C (p.L16F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70452669G>C" "" "benign" "" "0000275097" "0" "30" "X" "69669640" "69669640" "subst" "1.84027E-5" "01943" "DLG3_000040" "g.69669640T>C" "" "" "" "DLG3(NM_021120.3):c.634T>C (p.L212=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70449790T>C" "" "likely benign" "" "0000275098" "0" "50" "X" "69713241" "69713241" "subst" "1.72829E-5" "01943" "DLG3_000043" "g.69713241C>T" "" "" "" "DLG3(NM_020730.2):c.778C>T (p.R260C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70493391C>T" "" "VUS" "" "0000334538" "0" "50" "X" "69665056" "69665056" "subst" "1.05491E-5" "01804" "DLG3_000035" "g.69665056A>C" "" "" "" "DLG3(NM_021120.3):c.5A>C (p.(His2Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70445206A>C" "" "VUS" "" "0000334539" "0" "50" "X" "69665355" "69665355" "subst" "0.00331773" "01804" "DLG3_000001" "g.69665355G>A" "" "" "" "DLG3(NM_021120.3):c.304G>A (p.G102S, p.(Gly102Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70445505G>A" "" "VUS" "" "0000334540" "0" "50" "X" "69669205" "69669205" "subst" "0.00102167" "01804" "DLG3_000039" "g.69669205G>T" "" "" "" "DLG3(NM_020730.2):c.-3267G>T (p.(=)), DLG3(NM_021120.3):c.409-4G>T, DLG3(NM_021120.4):c.409-4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70449355G>T" "" "VUS" "" "0000334541" "0" "50" "X" "69672519" "69672519" "subst" "0.00194545" "01804" "DLG3_000041" "g.69672519G>C" "" "" "" "DLG3(NM_001166278.1):c.-2639G>C (p.(=)), DLG3(NM_020730.2):c.48G>C (p.L16F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70452669G>C" "" "VUS" "" "0000334543" "0" "50" "X" "69719094" "69719094" "subst" "0" "01804" "DLG3_000045" "g.69719094G>A" "" "" "" "DLG3(NM_021120.3):c.1939G>A (p.(Glu647Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70499244G>A" "" "VUS" "" "0000343227" "0" "90" "X" "69719741" "69719741" "subst" "0" "02327" "DLG3_000046" "g.69719741C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70499891C>T" "" "pathogenic" "" "0000345077" "0" "70" "X" "69665404" "69665404" "subst" "0" "02327" "DLG3_000047" "g.69665404A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70445554A>G" "" "likely pathogenic" "" "0000408026" "21" "90" "X" "69671823" "69671823" "dup" "0" "00006" "DLG3_000051" "g.69671823dup" "" "{PMID:Hu 2016:25644381}" "" "DLG3 insC T365Hfs*" "" "Germline" "yes" "" "0" "" "" "g.70451973dup" "" "pathogenic" "" "0000408075" "21" "90" "X" "69665143" "69665143" "del" "0" "00006" "DLG3_000048" "g.69665143del" "" "{PMID:Hu 2016:25644381}" "" "DLG3 G31Afs*90" "" "Germline" "yes" "" "0" "" "" "g.70445293del" "" "pathogenic" "" "0000408076" "21" "90" "X" "69665409" "69665409" "subst" "0" "00006" "DLG3_000049" "g.69665409G>C" "" "{PMID:Philips 2014:24721225}, {PMID:Hu 2016:25644381}" "" "" "affects splice donor" "Germline" "yes" "" "0" "" "" "g.70445559G>C" "" "pathogenic (recessive)" "" "0000408077" "21" "90" "X" "69670634" "69670634" "subst" "0" "00006" "DLG3_000050" "g.69670634G>C" "" "{PMID:Philips 2014:24721225}, {PMID:Hu 2016:25644381}" "" "" "affects splice donor" "Germline" "yes" "" "0" "" "" "g.70450784G>C" "" "pathogenic (recessive)" "" "0000577153" "0" "50" "X" "69665056" "69665056" "subst" "1.05491E-5" "02327" "DLG3_000035" "g.69665056A>C" "" "" "" "DLG3(NM_021120.3):c.5A>C (p.(His2Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70445206A>C" "" "VUS" "" "0000577154" "0" "50" "X" "69665142" "69665142" "subst" "0.000113385" "01943" "DLG3_000053" "g.69665142G>A" "" "" "" "DLG3(NM_021120.3):c.91G>A (p.G31S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70445292G>A" "" "VUS" "" "0000577155" "0" "30" "X" "69665193" "69665193" "subst" "2.88736E-5" "01943" "DLG3_000054" "g.69665193A>G" "" "" "" "DLG3(NM_021120.3):c.142A>G (p.S48G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70445343A>G" "" "likely benign" "" "0000577156" "0" "50" "X" "69665202" "69665202" "subst" "0" "01943" "DLG3_000055" "g.69665202T>G" "" "" "" "DLG3(NM_021120.3):c.151T>G (p.Y51D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70445352T>G" "" "VUS" "" "0000577157" "0" "30" "X" "69665288" "69665288" "subst" "0" "01943" "DLG3_000056" "g.69665288C>T" "" "" "" "DLG3(NM_021120.3):c.237C>T (p.G79=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70445438C>T" "" "likely benign" "" "0000577158" "0" "70" "X" "69669291" "69669291" "subst" "0" "02327" "DLG3_000057" "g.69669291A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70449441A>T" "" "likely pathogenic" "" "0000577159" "0" "30" "X" "69669713" "69669713" "subst" "0" "01804" "DLG3_000058" "g.69669713C>T" "" "" "" "DLG3(NM_020730.2):c.-2759C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70449863C>T" "" "likely benign" "" "0000577160" "0" "90" "X" "69670507" "69670507" "subst" "0" "02327" "DLG3_000059" "g.69670507C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70450657C>T" "" "pathogenic" "" "0000577161" "0" "10" "X" "69672462" "69672462" "subst" "0.27448" "02325" "DLG3_000028" "g.69672462G>C" "" "" "" "DLG3(NM_020730.3):c.-10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70452612G>C" "" "benign" "" "0000577163" "0" "50" "X" "69672606" "69672606" "subst" "6.85002E-6" "01804" "DLG3_000060" "g.69672606G>A" "" "" "" "DLG3(NM_020730.2):c.134+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70452756G>A" "" "VUS" "" "0000577164" "0" "50" "X" "69712424" "69712424" "subst" "1.12529E-5" "01943" "DLG3_000061" "g.69712424C>T" "" "" "" "DLG3(NM_021120.3):c.1751C>T (p.T584M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70492574C>T" "" "VUS" "" "0000577165" "0" "50" "X" "69720780" "69720780" "subst" "0" "01943" "DLG3_000062" "g.69720780C>T" "" "" "" "DLG3(NM_021120.3):c.2288C>T (p.A763V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70500930C>T" "" "VUS" "" "0000578201" "0" "90" "X" "69665044" "69665044" "dup" "0" "00006" "DLG3_000034" "g.69665044dup" "" "{PMID:Kumar 2016:27222290}, {DOI:Kumar 2016:10.1038/ejhg.2016.46}" "" "-14_-13insG" "HEK293T cell expression cloning dual luciferase reporter assay shows reduced protein translation" "In vitro (cloned)" "" "" "0" "" "" "g.70445194dup" "" "NA" "" "0000619813" "0" "30" "X" "69669603" "69669603" "subst" "0.000184178" "01943" "DLG3_000063" "g.69669603G>A" "" "" "" "DLG3(NM_021120.3):c.597G>A (p.A199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70449753G>A" "" "likely benign" "" "0000619814" "0" "50" "X" "69674122" "69674122" "subst" "3.93506E-5" "01943" "DLG3_000064" "g.69674122G>A" "" "" "" "DLG3(NM_021120.3):c.1361G>A (p.R454Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70454272G>A" "" "VUS" "" "0000619815" "0" "50" "X" "69699087" "69699087" "subst" "0" "02327" "DLG3_000065" "g.69699087C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70479237C>T" "" "VUS" "" "0000619816" "0" "50" "X" "69712031" "69712031" "subst" "0" "01804" "DLG3_000066" "g.69712031T>C" "" "" "" "DLG3(NM_001166278.1):c.146T>C (p.(Ile49Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70492181T>C" "" "VUS" "" "0000624889" "3" "90" "X" "69712393" "69712393" "subst" "0" "01807" "DLG3_000067" "g.69712393C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.70492543C>T" "" "pathogenic" "" "0000647150" "3" "70" "X" "69670156" "69670156" "subst" "0" "01807" "DLG3_000068" "g.69670156G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.70450306G>A" "" "likely pathogenic" "" "0000668654" "0" "90" "X" "69674130" "69674130" "del" "0" "01807" "DLG3_000069" "g.69674130del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.70454280del" "" "pathogenic" "" "0000682593" "0" "30" "X" "69665177" "69665177" "subst" "1.99164E-5" "01943" "DLG3_000070" "g.69665177T>A" "" "" "" "DLG3(NM_021120.3):c.126T>A (p.G42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682594" "0" "50" "X" "69670079" "69670079" "subst" "0" "02327" "DLG3_000071" "g.69670079T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000682595" "0" "70" "X" "69670634" "69670634" "subst" "0" "01943" "DLG3_000072" "g.69670634G>A" "" "" "" "DLG3(NM_021120.3):c.985+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000682596" "0" "50" "X" "69673621" "69673621" "subst" "6.21465E-6" "02327" "DLG3_000073" "g.69673621G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693704" "0" "50" "X" "69699118" "69699118" "subst" "0" "01804" "DLG3_000074" "g.69699118A>G" "" "" "" "DLG3(NM_021120.3):c.1520+4A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729135" "0" "50" "X" "69722058" "69722058" "subst" "0" "01943" "DLG3_000075" "g.69722058A>G" "" "" "" "DLG3(NM_021120.3):c.2393A>G (p.K798R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810611" "0" "50" "X" "69670118" "69670118" "subst" "0" "02325" "DLG3_000076" "g.69670118A>T" "" "" "" "DLG3(NM_021120.4):c.803A>T (p.K268M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810612" "0" "30" "X" "69673651" "69673651" "subst" "0" "01943" "DLG3_000077" "g.69673651G>A" "" "" "" "DLG3(NM_021120.3):c.1302+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000841163" "21" "90" "X" "69712393" "69712393" "subst" "0" "00006" "DLG3_000067" "g.69712393C>T" "" "{PMID:Froukh 2020:32056211}" "" "" "" "Germline" "" "" "0" "" "" "g.70492543C>T" "" "pathogenic (recessive)" "" "0000856745" "0" "30" "X" "69669713" "69669713" "subst" "0" "01943" "DLG3_000078" "g.69669713C>A" "" "" "" "DLG3(NM_021120.3):c.703+4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856746" "0" "50" "X" "69717030" "69717030" "subst" "0" "02325" "DLG3_000079" "g.69717030A>G" "" "" "" "DLG3(NM_020730.3):c.863A>G (p.Q288R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000881246" "21" "70" "X" "69665302" "69665302" "subst" "0" "02300" "DLG3_000080" "g.69665302C>T" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM2, PP3, PP4" "Germline" "" "" "0" "" "" "g.70445452C>T" "" "likely pathogenic (recessive)" "ACMG" "0000931455" "0" "50" "X" "69719766" "69719766" "subst" "0" "02325" "DLG3_000081" "g.69719766A>G" "" "" "" "DLG3(NM_021120.4):c.2012A>G (p.Q671R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984823" "0" "50" "X" "69669670" "69669670" "subst" "6.93496E-6" "02325" "DLG3_000082" "g.69669670G>A" "" "" "" "DLG3(NM_021120.4):c.664G>A (p.E222K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984824" "0" "50" "X" "69670691" "69670691" "subst" "0" "01804" "DLG3_000083" "g.69670691G>A" "" "" "" "DLG3(NM_021120.4):c.985+58G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000985303" "0" "30" "X" "69672543" "69672543" "subst" "0" "03779" "DLG3_000084" "g.69672543G>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs757449904" "0" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes DLG3 ## Count = 87 "{{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}}" "0000001304" "00000007" "50" "1302" "168" "1302" "168" "c.1302+168T>C" "r.(?)" "p.(=)" "8i" "0000001305" "00000007" "50" "4429" "0" "4429" "0" "c.*1975G>A" "r.(?)" "p.(=)" "19" "0000001997" "00000007" "50" "1870" "114" "1870" "117" "c.1870+114_1870+117del" "r.(=)" "p.(=)" "" "0000001998" "00000007" "50" "3795" "0" "3795" "0" "c.*1341dup" "r.(=)" "p.(=)" "" "0000003032" "00000007" "50" "1773" "741" "1773" "741" "c.1773+741dup" "r.(=)" "p.(=)" "" "0000003033" "00000007" "50" "1870" "113" "1870" "116" "c.1870+113_1870+116del" "r.(=)" "p.(=)" "" "0000007082" "00000007" "50" "1145" "586" "1145" "586" "c.1145+586G>C" "r.(=)" "p.(=)" "" "0000007083" "00000007" "50" "1145" "779" "1145" "779" "c.1145+779T>C" "r.(=)" "p.(=)" "" "0000007084" "00000007" "50" "1302" "168" "1302" "168" "c.1302+168T>C" "r.(?)" "p.(=)" "8i" "0000007085" "00000007" "50" "1406" "-277" "1406" "-277" "c.1406-277C>T" "r.(=)" "p.(=)" "" "0000007086" "00000007" "50" "1819" "1424" "1819" "1424" "c.1819+1424G>C" "r.(=)" "p.(=)" "" "0000007087" "00000007" "50" "1820" "-56" "1820" "-56" "c.1820-56C>T" "r.(=)" "p.(=)" "" "0000007088" "00000007" "50" "1973" "-152" "1973" "-152" "c.1973-152C>T" "r.(=)" "p.(=)" "" "0000007089" "00000007" "50" "4429" "0" "4429" "0" "c.*1975G>A" "r.(?)" "p.(=)" "19" "0000007090" "00000007" "50" "5066" "0" "5066" "0" "c.*2612G>T" "r.(=)" "p.(=)" "" "0000009171" "00000007" "50" "1302" "168" "1302" "168" "c.1302+168T>C" "r.(?)" "p.(=)" "8i" "0000009172" "00000007" "50" "1406" "-277" "1406" "-277" "c.1406-277C>T" "r.(=)" "p.(=)" "" "0000009173" "00000007" "50" "1820" "-56" "1820" "-56" "c.1820-56C>T" "r.(=)" "p.(=)" "" "0000009174" "00000007" "50" "1870" "114" "1870" "117" "c.1870+114_1870+117del" "r.(=)" "p.(=)" "" "0000009175" "00000007" "50" "1973" "-152" "1973" "-152" "c.1973-152C>T" "r.(=)" "p.(=)" "" "0000009176" "00000007" "50" "4429" "0" "4429" "0" "c.*1975G>A" "r.(?)" "p.(=)" "19" "0000009177" "00000007" "50" "5066" "0" "5066" "0" "c.*2612G>T" "r.(=)" "p.(=)" "" "0000011021" "00000007" "50" "1870" "113" "1870" "116" "c.1870+113_1870+116del" "r.(=)" "p.(=)" "" "0000015053" "00000007" "50" "1145" "586" "1145" "586" "c.1145+586G>C" "r.(=)" "p.(=)" "" "0000015056" "00000007" "50" "1819" "1424" "1819" "1424" "c.1819+1424G>C" "r.(=)" "p.(=)" "" "0000036892" "00000007" "55" "304" "0" "304" "0" "c.304G>A" "r.(?)" "p.(Gly102Ser)" "1" "0000036893" "00000007" "35" "429" "0" "429" "0" "c.429C>T" "r.(?)" "p.(=)" "3" "0000036894" "00000007" "90" "649" "0" "649" "0" "c.649C>T" "r.(?)" "p.(Arg217*)" "4" "0000089472" "00000007" "70" "-8" "0" "-8" "0" "c.-8dup" "r.(?)" "p.(=)" "1" "0000249277" "00000007" "10" "358" "-300" "358" "-300" "c.358-300A>G" "r.(=)" "p.(=)" "" "0000267414" "00000007" "30" "409" "-4" "409" "-4" "c.409-4G>T" "r.spl?" "p.?" "" "0000268695" "00000007" "90" "92" "0" "92" "0" "c.92del" "r.(?)" "p.(Gly31AlafsTer90)" "" "0000275091" "00000007" "30" "1518" "0" "1518" "0" "c.1518C>G" "r.(?)" "p.(Val506=)" "" "0000275092" "00000007" "30" "1899" "0" "1899" "0" "c.1899G>A" "r.(?)" "p.(Leu633=)" "" "0000275093" "00000007" "30" "273" "0" "273" "0" "c.273G>A" "r.(?)" "p.(Pro91=)" "" "0000275094" "00000007" "30" "304" "0" "304" "0" "c.304G>A" "r.(?)" "p.(Gly102Ser)" "" "0000275095" "00000007" "30" "409" "-4" "409" "-4" "c.409-4G>T" "r.spl?" "p.?" "" "0000275096" "00000007" "10" "1145" "643" "1145" "643" "c.1145+643G>C" "r.(=)" "p.(=)" "" "0000275097" "00000007" "30" "634" "0" "634" "0" "c.634T>C" "r.(?)" "p.(Leu212=)" "" "0000275098" "00000007" "50" "1773" "795" "1773" "795" "c.1773+795C>T" "r.(=)" "p.(=)" "" "0000334538" "00000007" "50" "5" "0" "5" "0" "c.5A>C" "r.(?)" "p.(His2Pro)" "" "0000334539" "00000007" "50" "304" "0" "304" "0" "c.304G>A" "r.(?)" "p.(Gly102Ser)" "" "0000334540" "00000007" "50" "409" "-4" "409" "-4" "c.409-4G>T" "r.spl?" "p.?" "" "0000334541" "00000007" "50" "1145" "643" "1145" "643" "c.1145+643G>C" "r.(=)" "p.(=)" "" "0000334543" "00000007" "50" "1939" "0" "1939" "0" "c.1939G>A" "r.(?)" "p.(Glu647Lys)" "" "0000343227" "00000007" "90" "1987" "0" "1987" "0" "c.1987C>T" "r.(?)" "p.(Arg663Ter)" "" "0000345077" "00000007" "70" "353" "0" "353" "0" "c.353A>G" "r.(?)" "p.(Glu118Gly)" "" "0000408026" "00000007" "00" "1092" "0" "1092" "0" "c.1092dup" "r.(?)" "p.(Thr365Hisfs*13)" "" "0000408075" "00000007" "00" "92" "0" "92" "0" "c.92del" "r.(?)" "p.(Gly31Alafs*90)" "" "0000408076" "00000007" "90" "357" "1" "357" "1" "c.357+1G>C" "r.spl" "p.?" "" "0000408077" "00000007" "90" "985" "1" "985" "1" "c.985+1G>C" "r.spl" "p.?" "" "0000577153" "00000007" "50" "5" "0" "5" "0" "c.5A>C" "r.(?)" "p.(His2Pro)" "" "0000577154" "00000007" "50" "91" "0" "91" "0" "c.91G>A" "r.(?)" "p.(Gly31Ser)" "" "0000577155" "00000007" "30" "142" "0" "142" "0" "c.142A>G" "r.(?)" "p.(Ser48Gly)" "" "0000577156" "00000007" "50" "151" "0" "151" "0" "c.151T>G" "r.(?)" "p.(Tyr51Asp)" "" "0000577157" "00000007" "30" "237" "0" "237" "0" "c.237C>T" "r.(?)" "p.(Gly79=)" "" "0000577158" "00000007" "70" "491" "0" "491" "0" "c.491A>T" "r.(?)" "p.(Lys164Met)" "" "0000577159" "00000007" "30" "703" "4" "703" "4" "c.703+4C>T" "r.spl?" "p.?" "" "0000577160" "00000007" "90" "859" "0" "859" "0" "c.859C>T" "r.(?)" "p.(Gln287Ter)" "" "0000577161" "00000007" "10" "1145" "586" "1145" "586" "c.1145+586G>C" "r.(=)" "p.(=)" "" "0000577163" "00000007" "50" "1145" "730" "1145" "730" "c.1145+730G>A" "r.(=)" "p.(=)" "" "0000577164" "00000007" "50" "1751" "0" "1751" "0" "c.1751C>T" "r.(?)" "p.(Thr584Met)" "" "0000577165" "00000007" "50" "2288" "0" "2288" "0" "c.2288C>T" "r.(?)" "p.(Ala763Val)" "" "0000578201" "00000007" "90" "-8" "0" "-8" "0" "c.-8dup" "r.(=)" "p.(=)" "1" "0000619813" "00000007" "30" "597" "0" "597" "0" "c.597G>A" "r.(?)" "p.(Ala199=)" "" "0000619814" "00000007" "50" "1361" "0" "1361" "0" "c.1361G>A" "r.(?)" "p.(Arg454Gln)" "" "0000619815" "00000007" "50" "1493" "0" "1493" "0" "c.1493C>T" "r.(?)" "p.(Thr498Ile)" "" "0000619816" "00000007" "50" "1595" "0" "1595" "0" "c.1595T>C" "r.(?)" "p.(Ile532Thr)" "" "0000624889" "00000007" "90" "1720" "0" "1720" "0" "c.1720C>T" "r.(?)" "p.(Arg574Ter)" "" "0000647150" "00000007" "70" "840" "1" "840" "1" "c.840+1G>A" "r.spl" "p.?" "" "0000668654" "00000007" "90" "1369" "0" "1369" "0" "c.1369del" "r.(?)" "p.(Gln457Serfs*28)" "" "0000682593" "00000007" "30" "126" "0" "126" "0" "c.126T>A" "r.(?)" "p.(Gly42=)" "" "0000682594" "00000007" "50" "764" "0" "764" "0" "c.764T>A" "r.(?)" "p.(Ile255Asn)" "" "0000682595" "00000007" "70" "985" "1" "985" "1" "c.985+1G>A" "r.spl?" "p.?" "" "0000682596" "00000007" "50" "1280" "0" "1280" "0" "c.1280G>T" "r.(?)" "p.(Arg427Leu)" "" "0000693704" "00000007" "50" "1520" "4" "1520" "4" "c.1520+4A>G" "r.spl?" "p.?" "" "0000729135" "00000007" "50" "2393" "0" "2393" "0" "c.2393A>G" "r.(?)" "p.(Lys798Arg)" "" "0000810611" "00000007" "50" "803" "0" "803" "0" "c.803A>T" "r.(?)" "p.(Lys268Met)" "" "0000810612" "00000007" "30" "1302" "8" "1302" "8" "c.1302+8G>A" "r.(=)" "p.(=)" "" "0000841163" "00000007" "90" "1720" "0" "1720" "0" "c.1720C>T" "r.(?)" "p.(Arg574Ter)" "" "0000856745" "00000007" "30" "703" "4" "703" "4" "c.703+4C>A" "r.spl?" "p.?" "" "0000856746" "00000007" "50" "1820" "-1340" "1820" "-1340" "c.1820-1340A>G" "r.(=)" "p.(=)" "" "0000881246" "00000007" "70" "251" "0" "251" "0" "c.251C>T" "r.(?)" "p.(Pro84Leu)" "" "0000931455" "00000007" "50" "2012" "0" "2012" "0" "c.2012A>G" "r.(?)" "p.(Gln671Arg)" "" "0000984823" "00000007" "50" "664" "0" "664" "0" "c.664G>A" "r.(?)" "p.(Glu222Lys)" "" "0000984824" "00000007" "50" "985" "58" "985" "58" "c.985+58G>A" "r.(=)" "p.(=)" "" "0000985303" "00000007" "30" "1145" "667" "1145" "667" "c.1145+667G>T" "r.(?)" "p.(?)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 38 "{{screeningid}}" "{{variantid}}" "0000000029" "0000001304" "0000000029" "0000001305" "0000000209" "0000001997" "0000000209" "0000001998" "0000000209" "0000003032" "0000000209" "0000003033" "0000000209" "0000007082" "0000000209" "0000007083" "0000000209" "0000007084" "0000000209" "0000007085" "0000000209" "0000007086" "0000000209" "0000007087" "0000000209" "0000007088" "0000000209" "0000007089" "0000000209" "0000007090" "0000000210" "0000009171" "0000000210" "0000009172" "0000000210" "0000009173" "0000000210" "0000009174" "0000000210" "0000009175" "0000000210" "0000009176" "0000000210" "0000009177" "0000000210" "0000011021" "0000000210" "0000015053" "0000000210" "0000015056" "0000016929" "0000036892" "0000016930" "0000036893" "0000016998" "0000036894" "0000058785" "0000089472" "0000184057" "0000408026" "0000184106" "0000408075" "0000184107" "0000408076" "0000184108" "0000408077" "0000271041" "0000624889" "0000290478" "0000647150" "0000305091" "0000668654" "0000405102" "0000841163" "0000420887" "0000881246"