### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PLS3) # 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}}" "PLS3" "plastin 3" "X" "q23" "unknown" "NG_012518.2" "UD_132118543134" "" "https://www.LOVD.nl/PLS3" "Osteogenesis Imperfecta & Ehlers-Danlos syndrome variant databases \r\nOsteogenesis Imperfecta Federation Europe (OIFE) " "1" "9091" "5358" "300131" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543.
Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.\r\nThis database is supported by Osteogenesis Imperfecta Federation Europe (OIFE)" "" "g" "https://databases.lovd.nl/shared/refseq/PLS3_codingDNA.html" "1" "" "
Osteogenesis Imperfecta Variant Database\r\n
\r\n\r\n
" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2023-10-06 11:50:04" "00006" "2025-09-24 08:32:36" ## 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}}" "00025329" "PLS3" "transcript variant 1" "001" "NM_005032.5" "" "NP_005023.2" "" "" "" "-419" "3193" "1893" "114795177" "114885181" "00006" "2018-10-22 17:06:35" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01484" "-" "osteoporosis" "AD" "166710" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02201" "BMND18" "bone mineral density quantitative trait locus 18 (BMND-18)" "XLD" "300910" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05296" "OI" "osteogenesis imperfecta" "" "" "" "" "" "00006" "2017-06-26 22:59:16" "00006" "2025-09-23 21:54:31" "05306" "BMND" "bone mineral density, quantitative trait locus (BMND)" "" "" "" "" "" "00006" "2017-07-14 19:04:41" "" "" "05480" "DIH" "hernia, diaphragmatic, congential" "" "" "" "" "" "00006" "2018-10-22 17:14:17" "00006" "2023-10-06 11:50:29" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "PLS3" "02201" "PLS3" "05306" "PLS3" "05480" ## Individuals ## Do not remove or alter this header ## ## Count = 50 "{{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}}" "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" "" "" "" "" "00173334" "" "" "" "7" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173335" "" "" "" "7" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173336" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173337" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173338" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00183310" "" "" "" "10" "" "00006" "Petit ASHG2018 P1260" "3-generation family, 10 affected (10M)" "M" "" "France" "" "0" "" "" "" "ASHG2018-P1260-Fam1" "00183311" "" "" "" "2" "" "00006" "Petit ASHG2018 P1260" "family, 2 affected (2M)" "M" "" "" "" "0" "" "" "" "ASHG2018-P1260-Fam2" "00183312" "" "" "" "3" "" "00006" "Petit ASHG2018 P1260" "family, 3 affected (3M)" "M" "" "" "" "0" "" "" "" "ASHG2018-P1260-Fam3" "00372601" "" "" "" "1" "" "00085" "{PMID:Fahiminiya 2014:24616189}" "patient has a younger brother who harbours the same PLS3 variant" "" "" "" "" "0" "" "" "" "P1" "00372610" "" "" "" "1" "" "00085" "{PMID:Laine 2015:25209159}" "" "" "" "" "" "0" "" "" "" "" "00372611" "" "" "" "1" "" "00085" "{PMID:van Dijk 2013:24088043}" "A report of a boy from this family was subsequently reported by {PMID27477003:van de Laarschot and Zillikens, 2017}" "" "" "" "" "0" "" "" "" "Family 1" "00372612" "" "" "" "1" "" "00085" "{PMID:Chen 2018:30405713}" "" "" "" "China" "" "0" "" "" "" "IV-1" "00372613" "" "" "" "1" "" "00085" "{PMID:van Dijk 2013:24088043}" "" "" "" "" "" "0" "" "" "" "Family 3" "00372614" "" "" "" "1" "" "00085" "{PMID:van Dijk 2013:24088043}" "" "" "" "" "" "0" "" "" "" "Family 4" "00372615" "" "" "" "1" "" "00085" "{PMID:Cao 2019:30913006}" "The authors were contacted for further clarification of the OI type but they were unable to give a specific OI type." "" "" "China" "" "0" "" "" "" "P4" "00372616" "" "" "" "1" "" "00085" "{PMID:Lv 2017:28620780}" "The patient is male and his mother is presumed to be a carrier for the deletion. She has osteopaenia, but no bone fractures." "" "" "China" "" "0" "" "" "Han" "" "00372618" "" "" "" "1" "" "00085" "{PMID:Constantini 2018:29884797}" "The proband\'s mother does not harbour the variant." "" "" "Greece" "" "0" "" "" "" "" "00372619" "" "" "" "1" "" "00085" "{PMID:Nishi 2016:27566442}" "Patient 3 is the brother of patient 2." "" "" "Finland" "" "0" "" "" "" "Patient 2" "00372620" "" "" "" "1" "" "00085" "{PMID:Fahiminiya 2014:24616189}" "The patient\'s dizygotic twin brother also harbours the same variant." "" "" "" "" "0" "" "" "" "P3 (Family 2)" "00372621" "" "" "" "1" "" "00085" "{PMID:van Dijk 2013:24088043}" "" "" "" "" "" "0" "" "" "" "Family 2" "00372622" "" "" "" "1" "" "00085" "{PMID:van Dijk 2013:24088043}" "" "" "" "" "" "0" "" "" "" "Family 5" "00431416" "" "" "" "2" "" "04465" "{PMID:Hu 2020:33166085}" "" "M" "?" "China" ">12y" "" "" "" "" "Pat1" "00431417" "" "" "00431416" "1" "" "04465" "{PMID:Hu 2020:33166085}" "" "M" "?" "China" ">06y" "" "" "" "" "Pat2" "00431831" "" "" "" "1" "" "04465" "{PMID:Brlek 2021:34946798}" "" "M" "no" "Croatia (Hrvatska)" ">16y" "" "" "" "" "Pat1" "00436744" "" "" "00436743" "1" "" "00006" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "relative" "F" "" "France" "" "0" "" "" "" "Fam1PatIII1" "00436745" "" "" "00436743" "1" "" "00006" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "relative" "M" "" "France" "" "0" "" "" "" "Fam1PatIII2" "00436746" "" "" "00436743" "1" "" "00006" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "relative" "F" "" "France" "" "0" "" "" "" "Fam1PatIII4" "00436748" "" "" "00436743" "1" "" "00006" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "relative" "F" "" "France" "" "0" "" "" "" "Fam1PatIII10" "00436749" "" "" "00436743" "1" "" "00006" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "relative" "F" "" "France" "" "0" "" "" "" "Fam1PatIV3" "00436750" "" "" "00436743" "1" "" "00006" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "relative" "F" "" "France" "" "0" "" "" "" "Fam1PatIV4" "00436751" "" "" "00436743" "1" "" "00006" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "relative" "F" "" "France" "" "0" "" "" "" "Fam1PatIV12" "00436753" "" "" "00436743" "1" "" "00006" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "relative" "F" "" "France" "" "0" "" "" "" "Fam1PatIV15" "00436754" "" "" "00436743" "1" "" "00006" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "relative" "M" "" "France" "" "0" "" "" "" "Fam1PatIV16" "00436755" "" "" "00436743" "1" "" "00006" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "relative" "F" "" "France" "" "0" "" "" "" "Fam1PatIV34" "00436758" "" "" "00436743" "1" "" "00006" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "relative" "M" "" "France" "" "0" "" "" "" "Fam1PatV2" "00436759" "" "" "00436743" "1" "" "00006" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "relative (fetus)" "M" "" "France" "" "0" "" "" "" "Fam1PatV6" "00436760" "" "" "" "3" "" "00006" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "2-generation family, affected mother/2 sons" "F" "" "United States" "" "0" "" "" "" "Fam2PatI2" "00436761" "" "" "00436760" "1" "" "00006" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "son" "M" "" "United States" "" "0" "" "" "" "Fam2PatII1" "00436762" "" "" "00436760" "1" "" "00006" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "son" "M" "" "United States" "" "0" "" "" "" "Fam2PatII2" "00436763" "" "" "" "6" "" "00006" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "4-generation family, 6 affected (3F, 3M)" "M" "" "United States" "" "0" "" "" "" "Fam3PatIII3" "00436764" "" "" "00436763" "1" "" "00006" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "relative" "M" "" "United States" "" "0" "" "" "" "Fam3PatIV1" "00436765" "" "" "00436763" "1" "" "00006" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "relative" "M" "" "United States" "" "0" "" "" "" "Fam3PatIV2" "00436768" "" "" "00436766" "1" "" "00006" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "relative" "M" "" "United States" "" "0" "" "" "" "Fam4PatIII3" "00436769" "" "" "" "1" "" "00006" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "United States" "" "0" "" "" "" "Fam5PatII1" "00436770" "" "" "" "1" "" "00006" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "United States" "" "0" "" "" "" "Fam6PatII1" "00436771" "" "" "" "1" "" "00006" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "Hispanic" "Fam7PatII2" "00436774" "" "" "00436772" "1" "" "00006" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "son (half-brother)" "M" "" "United States" "" "0" "" "" "white" "Fam8PatII5" "00466840" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat127" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 50 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00173334" "00187" "00173335" "00187" "00173336" "00187" "00173337" "00187" "00173338" "00187" "00183310" "05480" "00183311" "05480" "00183312" "05480" "00372601" "01484" "00372610" "01484" "00372611" "01484" "00372612" "05296" "00372613" "01484" "00372614" "01484" "00372615" "05296" "00372616" "01484" "00372618" "01484" "00372619" "01484" "00372620" "01484" "00372621" "01484" "00372622" "01484" "00431416" "05296" "00431417" "05296" "00431831" "05296" "00436744" "05480" "00436745" "05480" "00436746" "05480" "00436748" "05480" "00436749" "05480" "00436750" "05480" "00436751" "05480" "00436753" "05480" "00436754" "05480" "00436755" "05480" "00436758" "05480" "00436759" "05480" "00436760" "05480" "00436761" "05480" "00436762" "05480" "00436763" "05480" "00436764" "05480" "00436765" "05480" "00436768" "05480" "00436769" "05480" "00436770" "05480" "00436771" "05480" "00436774" "05480" "00466840" "05296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 01157, 01484, 02201, 05296, 05306, 05480 ## Count = 34 "{{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/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "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" "" "" "" "" "" "" "" "0000138198" "00187" "00173334" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000138199" "00187" "00173335" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000138200" "00187" "00173336" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000138201" "00187" "00173337" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000138202" "00187" "00173338" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000321991" "05296" "00431416" "04465" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000321992" "05296" "00431417" "04465" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000322400" "05296" "00431831" "04465" "Familial, X-linked recessive" "16y" "Fractures, white sclerae, subluxations" "" "" "" "" "" "" "" "" "" "" "0000326857" "05480" "00436744" "00006" "Familial, X-linked dominant" "" "see paper; ..., alive; no diaphragm defect type; no body-wall defect; hypertelorism; no neurodevelopmental features" "" "" "" "" "" "" "" "" "" "congenital diaphragmatic hernia" "0000326858" "05480" "00436745" "00006" "Familial, X-linked dominant" "" "see paper; ..., alive; no diaphragm defect type; supraumbilical abdominal hernia; hypertelorism; no neurodevelopmental features; high bone densitometry, genu valgum" "" "" "" "" "" "" "" "" "" "congenital diaphragmatic hernia" "0000326859" "05480" "00436746" "00006" "Familial, X-linked dominant" "" "see paper; ..., alive; no diaphragm defect type; no body-wall defect; hypertelorism; no neurodevelopmental features" "" "" "" "" "" "" "" "" "" "congenital diaphragmatic hernia" "0000326861" "05480" "00436748" "00006" "Familial, X-linked dominant" "" "see paper; ..., alive; no diaphragm defect type; hypertelorism; no neurodevelopmental features" "" "" "" "" "" "" "" "" "" "congenital diaphragmatic hernia" "0000326862" "05480" "00436749" "00006" "Familial, X-linked dominant" "" "see paper; ..., alive; no diaphragm defect type; no body-wall defect; hypertelorism; no neurodevelopmental features" "" "" "" "" "" "" "" "" "" "congenital diaphragmatic hernia" "0000326863" "05480" "00436750" "00006" "Familial, X-linked dominant" "" "see paper; ..., alive; no diaphragm defect type; supraumbilical abdominal hernia; hypertelorism; no neurodevelopmental features" "" "" "" "" "" "" "" "" "" "congenital diaphragmatic hernia" "0000326864" "05480" "00436751" "00006" "Familial, X-linked dominant" "" "see paper; ..., alive; no diaphragm defect type; supraumbilical abdominal hernia; hypertelorism; no neurodevelopmental features" "" "" "" "" "" "" "" "" "" "congenital diaphragmatic hernia" "0000326866" "05480" "00436753" "00006" "Familial, X-linked dominant" "" "see paper; ..., alive; no diaphragm defect type; no body-wall defect; hypertelorism; no neurodevelopmental features" "" "" "" "" "" "" "" "" "" "congenital diaphragmatic hernia" "0000326867" "05480" "00436754" "00006" "Familial, X-linked dominant" "" "see paper; ..., deceased; diaphragm agenesis; no body-wall defect; neonatal seizures; bilateral renal pelvis dilation" "" "" "" "" "" "" "" "" "" "congenital diaphragmatic hernia" "0000326868" "05480" "00436755" "00006" "Familial, X-linked dominant" "" "see paper; ..., alive; no diaphragm defect type; hypertelorism; no neurodevelopmental features" "" "" "" "" "" "" "" "" "" "congenital diaphragmatic hernia" "0000326871" "05480" "00436758" "00006" "Familial, X-linked dominant" "" "see paper; ..., deceased; left diaphragm agenesis; no body-wall defect; hypertelorism; hypotonia; left lung segmentation defect, bicuspid aortic valve, two choroid cysts" "" "" "" "" "" "" "" "" "" "congenital diaphragmatic hernia" "0000326872" "05480" "00436759" "00006" "Familial, X-linked dominant" "" "see paper; ..., deceased (termination of pregnancy); left diaphragm agenesis; cystic hygroma, left lung segmentation defect" "" "" "" "" "" "" "" "" "" "congenital diaphragmatic hernia" "0000326873" "05480" "00436760" "00006" "Unknown" "" "see paper; ..., alive; no diaphragm defect type; umbilical hernia; no dysmorphic features; no neurodevelopmental features" "" "" "" "" "" "" "" "" "" "congenital diaphragmatic hernia" "0000326874" "05480" "00436761" "00006" "Familial, X-linked dominant" "" "see paper; ..., deceased; left posterolateral congenital diaphragmatic hernia; supraumbilical abdominal muscle deficiency, cleft sternum; hypoplasia of corpus callosum" "" "" "" "" "" "" "" "" "" "congenital diaphragmatic hernia" "0000326875" "05480" "00436762" "00006" "Familial, X-linked dominant" "" "see paper; ..., deceased; left diaphragm agenesis; supraumbilical abdominal muscle deficiency" "" "" "" "" "" "" "" "" "" "congenital diaphragmatic hernia" "0000326876" "05480" "00436763" "00006" "Familial, X-linked dominant" "" "see paper; ..., alive; left posterolateral congenital diaphragmatic hernia; no body-wall defect; no dysmorphic features" "" "" "" "" "" "" "" "" "" "congenital diaphragmatic hernia" "0000326877" "05480" "00436764" "00006" "Familial, X-linked dominant" "" "see paper; ..., deceased; no body-wall defect; left posterolateral congenital diaphragmatic hernia" "" "" "" "" "" "" "" "" "" "congenital diaphragmatic hernia" "0000326878" "05480" "00436765" "00006" "Familial, X-linked dominant" "" "see paper; ..., alive; left posterolateral congenital diaphragmatic hernia; no body-wall defect; no dysmorphic features; hydronephrosis with ureteral abnormality" "" "" "" "" "" "" "" "" "" "congenital diaphragmatic hernia" "0000326881" "05480" "00436768" "00006" "Familial, X-linked dominant" "" "see paper; ..., alive; congenital diaphragmatic hernia (unspecified); no neurodevelopmental features" "" "" "" "" "" "" "" "" "" "congenital diaphragmatic hernia" "0000326882" "05480" "00436769" "00006" "Familial, X-linked dominant" "" "see paper; ..., alive; right congenital diaphragmatic hernia; absence of right-sided internal oblique and transversus abdominis muscles; no dysmorphic features; no neurodevelopmental features" "" "" "" "" "" "" "" "" "" "congenital diaphragmatic hernia" "0000326883" "05480" "00436770" "00006" "Familial, X-linked dominant" "" "see paper; ..., alive; diaphragm eventration; no body-wall defect; no dysmorphic features; no neurodevelopmental features" "" "" "" "" "" "" "" "" "" "congenital diaphragmatic hernia" "0000326884" "05480" "00436771" "00006" "Isolated (sporadic)" "" "see paper; ..., alive; bilateral ventral CDH with hernia sacs; epigastric skin-covered abdominal-wall defect; hypertelorism, prominent forehead, broad flattened nasal bridge, downslanting palpebral fissures, low-set ears, micrognathia, anteverted nares; no neurodevelopmental features; membranous ventricular septal defect, atrial septal defect, hydronephrosis, unilateral cryptorchidism, unilateral inguinal hernia" "" "" "" "" "" "" "" "" "" "congenital diaphragmatic hernia" "0000326887" "05480" "00436774" "00006" "Familial, X-linked dominant" "" "see paper; ..., alive; left congenital diaphragmatic hernia with hernia sac; no body-wall defect; hypertelorism, low-set right ear, short nose with wide nasal root, downslanting palpebral fissures, widely spaced teeth, high arched palate; intermittent horizontal nystagmus, dilation of lateral ventricles, speech delay, intellectual disability, autism, complex partial seizures; corneal pannus, sensory neural hearing loss, malocclusion, two-vessel umbilical cord" "" "" "" "" "" "" "" "" "" "congenital diaphragmatic hernia" "0000352203" "05296" "00466840" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" ## Screenings ## Do not remove or alter this header ## ## Count = 50 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "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" "" "" "0000174217" "00173334" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000174218" "00173335" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000174219" "00173336" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000174220" "00173337" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000174221" "00173338" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000184271" "00183310" "1" "00006" "00006" "2018-10-22 17:20:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000184272" "00183311" "1" "00006" "00006" "2018-10-22 17:23:42" "" "" "SEQ" "DNA" "" "" "0000184273" "00183312" "1" "00006" "00006" "2018-10-22 17:25:21" "" "" "SEQ" "DNA" "" "" "0000373833" "00372601" "1" "00085" "00085" "2014-03-14 11:54:24" "00001" "2021-05-10 11:43:07" "PCR;SEQ" "DNA" "" "" "0000373842" "00372610" "1" "00085" "00085" "2017-03-15 13:14:28" "00085" "2017-03-15 13:16:14" "PCR;SEQ;SEQ-NG" "DNA" "" "" "0000373843" "00372611" "1" "00085" "00085" "2013-11-05 09:34:39" "00085" "2017-03-29 13:47:14" "PCR;SEQ" "DNA" "" "" "0000373844" "00372612" "1" "00085" "00085" "2019-09-05 08:58:27" "" "" "SEQ" "DNA" "" "" "0000373845" "00372613" "1" "00085" "00085" "2013-11-05 09:47:26" "" "" "PCR;SEQ" "DNA" "" "" "0000373846" "00372614" "1" "00085" "00085" "2013-11-05 09:51:00" "" "" "PCR;SEQ" "DNA" "" "" "0000373847" "00372615" "1" "00085" "00085" "2019-08-16 11:43:45" "00085" "2019-08-23 14:59:22" "SEQ" "DNA" "" "" "0000373848" "00372616" "1" "00085" "00085" "2018-01-22 11:57:44" "" "" "PCR;SEQ;arraySEQ" "DNA" "" "" "0000373850" "00372618" "1" "00085" "00085" "2018-06-25 16:19:16" "00085" "2018-06-25 16:23:37" "PCR;SEQ" "DNA" "" "" "0000373851" "00372619" "1" "00085" "00085" "2017-03-15 13:50:52" "00085" "2017-03-15 14:07:16" "PCR;SEQ;SEQ-NG" "DNA" "" "" "0000373852" "00372620" "1" "00085" "00085" "2014-03-14 12:49:20" "" "" "PCR;SEQ" "DNA" "" "" "0000373853" "00372621" "1" "00085" "00085" "2013-10-16 13:16:40" "" "" "PCR;SEQ" "DNA" "" "" "0000373854" "00372622" "1" "00085" "00085" "2013-11-05 09:53:12" "" "" "PCR;SEQ" "DNA" "" "" "0000432831" "00431416" "1" "04465" "04465" "2023-02-13 10:11:07" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000432832" "00431417" "1" "04465" "04465" "2023-02-13 10:20:27" "" "" "SEQ" "DNA" "blood" "" "0000433270" "00431831" "1" "04465" "04465" "2023-02-16 14:29:49" "" "" "SEQ-NG" "DNA" "blood" "multi-gene panel" "0000438230" "00436744" "1" "00006" "00006" "2023-10-06 11:49:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000438231" "00436745" "1" "00006" "00006" "2023-10-06 11:49:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000438232" "00436746" "1" "00006" "00006" "2023-10-06 11:49:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000438233" "00436748" "1" "00006" "00006" "2023-10-06 11:49:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000438234" "00436749" "1" "00006" "00006" "2023-10-06 11:49:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000438235" "00436750" "1" "00006" "00006" "2023-10-06 11:49:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000438236" "00436751" "1" "00006" "00006" "2023-10-06 11:49:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000438237" "00436753" "1" "00006" "00006" "2023-10-06 11:49:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000438238" "00436754" "1" "00006" "00006" "2023-10-06 11:49:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000438239" "00436755" "1" "00006" "00006" "2023-10-06 11:49:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000438240" "00436758" "1" "00006" "00006" "2023-10-06 11:49:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000438241" "00436759" "1" "00006" "00006" "2023-10-06 11:49:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000438242" "00436760" "1" "00006" "00006" "2023-10-06 11:49:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000438243" "00436761" "1" "00006" "00006" "2023-10-06 11:49:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000438244" "00436762" "1" "00006" "00006" "2023-10-06 11:49:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000438245" "00436763" "1" "00006" "00006" "2023-10-06 11:49:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000438246" "00436764" "1" "00006" "00006" "2023-10-06 11:49:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000438247" "00436765" "1" "00006" "00006" "2023-10-06 11:49:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000438248" "00436768" "1" "00006" "00006" "2023-10-06 11:49:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000438249" "00436769" "1" "00006" "00006" "2023-10-06 11:49:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000438250" "00436770" "1" "00006" "00006" "2023-10-06 11:49:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000438251" "00436771" "1" "00006" "00006" "2023-10-06 11:49:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000438252" "00436774" "1" "00006" "00006" "2023-10-06 11:49:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468504" "00466840" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{geneid}}" "0000174217" "PNMA5" "0000174218" "PNPLA4" "0000174219" "POLA1" "0000174220" "POLA1" "0000174221" "POLA1" "0000184271" "PLS3" "0000184272" "PLS3" "0000184273" "PLS3" "0000373833" "BMP1" "0000373833" "PLS3" "0000373842" "PLS3" "0000373843" "PLS3" "0000373844" "PLS3" "0000373845" "PLS3" "0000373846" "PLS3" "0000373847" "PLS3" "0000373848" "PLS3" "0000373850" "PLS3" "0000373851" "PLS3" "0000373852" "PLS3" "0000373853" "PLS3" "0000373854" "PLS3" "0000432832" "PLS3" ## 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 = 96 "{{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}}" "0000003177" "0" "30" "X" "114797163" "114797163" "del" "0" "00037" "PLS3_000015" "g.114797163del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.115562836del" "" "likely benign" "" "0000003178" "0" "50" "X" "114871127" "114871127" "del" "0" "00037" "PLS3_000030" "g.114871127del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.115636815del" "" "VUS" "" "0000007480" "20" "50" "X" "114796421" "114796421" "subst" "0" "00037" "PLS3_000042" "g.114796421A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.115562094=" "" "VUS" "" "0000015454" "20" "30" "X" "114796421" "114796421" "subst" "0" "00037" "PLS3_000042" "g.114796421A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.115562094=" "" "likely benign" "" "0000298933" "0" "10" "X" "114879399" "114879399" "subst" "0.0625611" "02329" "PLS3_000036" "g.114879399T>C" "" "" "" "PLS3(NM_005032.7):c.1242T>C (p.P414=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115645079T>C" "" "benign" "" "0000298934" "0" "10" "X" "114880423" "114880423" "subst" "0.0572823" "02329" "PLS3_000037" "g.114880423T>C" "" "" "" "PLS3(NM_005032.7):c.1294T>C (p.L432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115646103T>C" "" "benign" "" "0000298935" "0" "10" "X" "114880523" "114880523" "subst" "0.0730517" "02329" "PLS3_000038" "g.114880523C>T" "" "" "" "PLS3(NM_005032.7):c.1377+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115646203C>T" "" "benign" "" "0000298936" "0" "30" "X" "114863593" "114863593" "subst" "0.0148265" "02329" "PLS3_000031" "g.114863593T>A" "" "" "" "PLS3(NM_005032.7):c.321T>A (p.G107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115629281T>A" "" "likely benign" "" "0000298937" "0" "10" "X" "114871140" "114871140" "del" "0" "02329" "PLS3_000034" "g.114871140del" "" "" "" "PLS3(NM_005032.7):c.749-20delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115636828del" "" "benign" "" "0000305944" "0" "50" "X" "114877711" "114877713" "del" "0" "01943" "PLS3_000006" "g.114877711_114877713del" "" "" "" "PLS3(NM_001282337.1):c.1035_1037delTGT (p.V346del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115643399_115643401del" "" "VUS" "" "0000305945" "0" "30" "X" "114877726" "114877726" "subst" "0" "01943" "PLS3_000035" "g.114877726C>T" "" "" "" "PLS3(NM_001282337.1):c.1050C>T (p.P350=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115643414C>T" "" "likely benign" "" "0000305946" "0" "50" "X" "114864207" "114864207" "subst" "0" "01943" "PLS3_000032" "g.114864207G>C" "" "" "" "PLS3(NM_001282337.1):c.362G>C (p.C121S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115629895G>C" "" "VUS" "" "0000337026" "0" "70" "X" "114879420" "114879420" "subst" "0" "02327" "PLS3_000039" "g.114879420G>A" "" "" "" "PLS3(NM_005032.7):c.1262+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115645100G>A" "" "likely pathogenic" "" "0000401236" "1" "30" "X" "114879399" "114879399" "subst" "0.0625611" "00124" "PLS3_000036" "g.114879399T>C" "7/208 cases" "{PMID:Tarpey 2009:19377476}" "" "P414P" "recurrent, found 7 times" "Germline" "" "" "0" "" "" "g.115645079T>C" "" "likely benign" "" "0000401237" "1" "30" "X" "114880423" "114880423" "subst" "0.0572823" "00124" "PLS3_000037" "g.114880423T>C" "7/208 cases" "{PMID:Tarpey 2009:19377476}" "" "L432L" "recurrent, found 7 times" "Germline" "" "" "0" "" "" "g.115646103T>C" "" "likely benign" "" "0000401238" "1" "30" "X" "114880820" "114880820" "subst" "0.00158521" "00124" "PLS3_000040" "g.114880820C>G" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "T492T" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.115646500C>G" "" "likely benign" "" "0000401239" "1" "30" "X" "114881903" "114881903" "subst" "5.59942E-5" "00124" "PLS3_000041" "g.114881903T>C" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "D515D" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.115647583T>C" "" "likely benign" "" "0000401240" "1" "30" "X" "114863593" "114863593" "subst" "0.0148265" "00124" "PLS3_000031" "g.114863593T>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "G107G" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.115629281T>A" "" "likely benign" "" "0000408283" "1" "90" "X" "0" "0" "" "0" "00006" "PLS3_000000" "g.?" "" "Petit ASHG2018 P1260" "" "" "segregating missense variant" "Germline" "yes" "" "1" "" "" "" "" "pathogenic (dominant)" "" "0000408286" "21" "90" "X" "0" "0" "" "0" "00006" "PLS3_000000" "g.?" "" "Petit ASHG2018 P1260" "" "" "" "Germline" "yes" "" "1" "" "" "" "" "pathogenic (dominant)" "" "0000408287" "21" "90" "X" "0" "0" "" "0" "00006" "PLS3_000000" "g.?" "" "Petit ASHG2018 P1260" "" "" "" "Germline" "yes" "" "1" "" "" "" "" "pathogenic (dominant)" "" "0000573131" "0" "10" "X" "114863650" "114863650" "subst" "0.00687495" "02329" "PLS3_000016" "g.114863650T>C" "" "" "" "PLS3(NM_005032.7):c.367+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115629338T>C" "" "benign" "" "0000573133" "0" "10" "X" "114871140" "114871140" "dup" "0" "02329" "PLS3_000018" "g.114871140dup" "" "" "" "PLS3(NM_005032.7):c.749-20dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115636828dup" "" "benign" "" "0000573134" "0" "10" "X" "114871141" "114871141" "subst" "0" "01804" "PLS3_000019" "g.114871141C>T" "" "" "" "PLS3(NM_001136025.3):c.749-7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115636829C>T" "" "benign" "" "0000573135" "0" "30" "X" "114871144" "114871144" "subst" "0" "01804" "PLS3_000020" "g.114871144C>T" "" "" "" "PLS3(NM_001136025.3):c.749-4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115636832C>T" "" "likely benign" "" "0000573136" "0" "30" "X" "114871166" "114871166" "subst" "0" "01804" "PLS3_000021" "g.114871166G>A" "" "" "" "PLS3(NM_001136025.3):c.767G>A (p.(Arg256Gln)), PLS3(NM_001282337.1):c.701G>A (p.R234Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115636854G>A" "" "likely benign" "" "0000573137" "0" "30" "X" "114874753" "114874753" "subst" "0.00159856" "01943" "PLS3_000022" "g.114874753A>G" "" "" "" "PLS3(NM_001136025.3):c.925A>G (p.(Ile309Val)), PLS3(NM_001282337.1):c.886A>G (p.I296V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115640441A>G" "" "likely benign" "" "0000573138" "0" "30" "X" "114874753" "114874753" "subst" "0.00159856" "01804" "PLS3_000022" "g.114874753A>G" "" "" "" "PLS3(NM_001136025.3):c.925A>G (p.(Ile309Val)), PLS3(NM_001282337.1):c.886A>G (p.I296V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115640441A>G" "" "likely benign" "" "0000573139" "0" "90" "X" "114879420" "114879420" "subst" "0" "02329" "PLS3_000039" "g.114879420G>A" "" "" "" "PLS3(NM_005032.7):c.1262+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115645100G>A" "" "pathogenic" "" "0000573140" "0" "90" "X" "114882224" "114882224" "del" "0" "02329" "PLS3_000005" "g.114882224del" "" "" "" "PLS3(NM_005032.7):c.1647delC (p.S550Afs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115647904del" "" "pathogenic" "" "0000618922" "0" "90" "X" "114871165" "114871165" "subst" "0" "02329" "PLS3_000024" "g.114871165C>T" "" "" "" "PLS3(NM_005032.7):c.766C>T (p.R256*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115636853C>T" "" "pathogenic" "" "0000618923" "0" "50" "X" "114879403" "114879403" "subst" "0" "01804" "PLS3_000025" "g.114879403G>A" "" "" "" "PLS3(NM_001136025.3):c.1246G>A (p.(Val416Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115645083G>A" "" "VUS" "" "0000624388" "0" "30" "X" "114883876" "114883876" "subst" "0" "01943" "PLS3_000026" "g.114883876G>C" "" "" "" "PLS3(NM_001282337.1):c.1849G>C (p.V617L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115649556G>C" "" "likely benign" "" "0000659052" "0" "50" "X" "114883790" "114883790" "subst" "3.36562E-5" "02325" "PLS3_000027" "g.114883790A>G" "" "" "" "PLS3(NM_001282337.2):c.1763A>G (p.Y588C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115649470A>G" "" "VUS" "" "0000728355" "0" "30" "X" "114864250" "114864250" "subst" "0.000450595" "01943" "PLS3_000028" "g.114864250C>T" "" "" "" "PLS3(NM_001282337.1):c.405C>T (p.F135=), PLS3(NM_005032.7):c.471C>T (p.F157=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728356" "0" "30" "X" "114868401" "114868401" "subst" "0.000207885" "01943" "PLS3_000029" "g.114868401T>G" "" "" "" "PLS3(NM_001282337.1):c.516+8T>G, PLS3(NM_005032.7):c.582+8T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728357" "0" "30" "X" "114868401" "114868401" "subst" "0.000207885" "02329" "PLS3_000029" "g.114868401T>G" "" "" "" "PLS3(NM_001282337.1):c.516+8T>G, PLS3(NM_005032.7):c.582+8T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000784107" "21" "99" "X" "114856534" "114856534" "subst" "0" "00085" "PLS3_000008" "g.114856534T>A" "" "{PMID:Laine 2015:25209159}" "" "" "incorrectly reported by the authors as c.73-24T>A.; The intronic sequence variant creates a new splice acceptor site resulting in a frameshift." "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000784108" "21" "99" "X" "114856719" "114856719" "del" "0" "00085" "PLS3_000002" "g.114856719del" "" "{PMID:van Dijk 2013:24088043}" "" "235delT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000784109" "21" "99" "X" "114869355" "114869355" "subst" "0" "00085" "PLS3_000014" "g.114869355G>T" "" "{PMID:Chen 2018:30405713}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000784110" "20" "99" "X" "114869359" "114869359" "subst" "0" "00085" "PLS3_000003" "g.114869359G>A" "" "{PMID:van Dijk 2013:24088043}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000784111" "20" "99" "X" "114871158" "114871159" "ins" "0" "00085" "PLS3_000004" "g.114871158_114871159insAAT" "" "{PMID:van Dijk 2013:24088043}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000784112" "21" "99" "X" "114874719" "114874719" "subst" "0" "00085" "PLS3_000013" "g.114874719G>A" "" "{PMID:Cao 2019:30913006}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000784113" "20" "99" "X" "114875757" "114887986" "del" "0" "00085" "PLS3_000010" "g.114875757_114887986del" "" "{PMID:Lv 2017:28620780}" "" "NC_000023.11:g.115641445_115653674del" "" "Germline" "" "" "0" "" "" "g.115641445_115653674del" "" "pathogenic (dominant)" "" "0000784114" "21" "99" "X" "114877631" "114877632" "del" "0" "00085" "PLS3_000006" "g.114877631_114877632del" "" "{PMID:Fahiminiya 2014:24616189}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000784115" "0" "99" "X" "114877734" "114877738" "del" "0" "00085" "PLS3_000011" "g.114877734_114877738del" "" "{PMID:Constantini 2018:29884797}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000784116" "21" "99" "X" "114877740" "114877740" "subst" "0" "00085" "PLS3_000009" "g.114877740C>A" "" "{PMID:Nishi 2016:27566442}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000784117" "20" "99" "X" "114880777" "114880777" "subst" "0" "00085" "PLS3_000007" "g.114880777T>C" "" "{PMID:Fahiminiya 2014:24616189}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000784118" "21" "99" "X" "114880815" "114880815" "subst" "0" "00085" "PLS3_000001" "g.114880815C>T" "" "{PMID:van Dijk 2013:24088043}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000784119" "20" "99" "X" "114882224" "114882224" "del" "0" "00085" "PLS3_000005" "g.114882224del" "" "{PMID:van Dijk 2013:24088043}" "" "1647delC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000809806" "0" "30" "X" "114871258" "114871258" "subst" "2.24729E-5" "01804" "PLS3_000043" "g.114871258C>A" "" "" "" "PLS3(NM_005032.5):c.859C>A (p.(Gln287Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856289" "0" "50" "X" "114864266" "114864266" "subst" "0" "02327" "PLS3_000044" "g.114864266G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856290" "0" "70" "X" "114869313" "114869313" "subst" "0" "02329" "PLS3_000045" "g.114869313A>T" "" "" "" "PLS3(NM_005032.7):c.703A>T (p.I235F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000856291" "0" "30" "X" "114871129" "114871129" "subst" "0" "02329" "PLS3_000046" "g.114871129T>C" "" "" "" "PLS3(NM_005032.7):c.749-19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856292" "0" "30" "X" "114871166" "114871166" "subst" "0" "01943" "PLS3_000021" "g.114871166G>A" "" "" "" "PLS3(NM_001136025.3):c.767G>A (p.(Arg256Gln)), PLS3(NM_001282337.1):c.701G>A (p.R234Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856293" "0" "30" "X" "114877687" "114877687" "subst" "9.52952E-5" "02329" "PLS3_000047" "g.114877687A>G" "" "" "" "PLS3(NM_005032.7):c.1050A>G (p.R350=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856294" "0" "50" "X" "114882220" "114882220" "subst" "3.39075E-5" "01943" "PLS3_000048" "g.114882220C>T" "" "" "" "PLS3(NM_001282337.1):c.1604C>T (p.T535M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866996" "0" "30" "X" "114881903" "114881903" "subst" "5.59942E-5" "01943" "PLS3_000041" "g.114881903T>C" "" "" "" "PLS3(NM_001282337.1):c.1506T>C (p.D502=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895890" "0" "10" "X" "114856739" "114856739" "subst" "0.00197663" "02329" "PLS3_000049" "g.114856739C>A" "" "" "" "PLS3(NM_005032.7):c.237+18C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000895891" "0" "50" "X" "114869248" "114869248" "subst" "0" "02329" "PLS3_000050" "g.114869248A>T" "" "" "" "PLS3(NM_005032.7):c.638A>T (p.N213I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895892" "0" "70" "X" "114880432" "114880432" "subst" "0" "02327" "PLS3_000051" "g.114880432C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000895893" "0" "50" "X" "114880728" "114880728" "subst" "0" "02329" "PLS3_000052" "g.114880728A>G" "" "" "" "PLS3(NM_005032.7):c.1384A>G (p.N462D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000918446" "21" "90" "X" "114877743" "114877744" "ins" "0" "04465" "PLS3_000053" "g.114877743_114877744insGAAA" "" "{PMID:Hu 2020:33166085}" "" "" "" "Germline" "" "" "0" "" "" "g.115643431_115643432insGAAA" "" "pathogenic (dominant)" "" "0000918447" "0" "90" "X" "114877743" "114877744" "ins" "0" "04465" "PLS3_000053" "g.114877743_114877744insGAAA" "" "{PMID:Hu 2020:33166085}" "" "" "" "Germline" "" "" "0" "" "" "g.115643431_115643432insGAAA" "" "pathogenic (dominant)" "" "0000918913" "21" "90" "X" "114869295" "114869295" "subst" "0" "04465" "PLS3_000054" "g.114869295G>A" "" "{PMID:Brlek 2021:34946798}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000931329" "0" "30" "X" "114863890" "114863890" "subst" "0" "02329" "PLS3_000055" "g.114863890C>T" "" "" "" "PLS3(NM_005032.7):c.367+251C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000933822" "20" "70" "X" "114871207" "114871207" "subst" "0" "00006" "PLS3_000059" "g.114871207G>A" "" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "" "" "" "Germline" "" "" "0" "" "" "g.115636895G>A" "" "likely pathogenic (dominant)" "" "0000933823" "20" "70" "X" "114871207" "114871207" "subst" "0" "00006" "PLS3_000059" "g.114871207G>A" "" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "" "" "" "Germline" "" "" "0" "" "" "g.115636895G>A" "" "likely pathogenic (dominant)" "" "0000933824" "20" "70" "X" "114871207" "114871207" "subst" "0" "00006" "PLS3_000059" "g.114871207G>A" "" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "" "" "" "Germline" "" "" "0" "" "" "g.115636895G>A" "" "likely pathogenic (dominant)" "" "0000933825" "20" "70" "X" "114871207" "114871207" "subst" "0" "00006" "PLS3_000059" "g.114871207G>A" "" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "" "" "" "Germline" "" "" "0" "" "" "g.115636895G>A" "" "likely pathogenic (dominant)" "" "0000933826" "21" "70" "X" "114871207" "114871207" "subst" "0" "00006" "PLS3_000059" "g.114871207G>A" "" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "" "" "" "Germline" "" "" "0" "" "" "g.115636895G>A" "" "likely pathogenic (dominant)" "" "0000933827" "21" "70" "X" "114871207" "114871207" "subst" "0" "00006" "PLS3_000059" "g.114871207G>A" "" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "" "" "" "Germline" "" "" "0" "" "" "g.115636895G>A" "" "likely pathogenic (dominant)" "" "0000933828" "21" "70" "X" "114871207" "114871207" "subst" "0" "00006" "PLS3_000059" "g.114871207G>A" "" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "" "" "" "Germline" "" "" "0" "" "" "g.115636895G>A" "" "likely pathogenic (dominant)" "" "0000933829" "21" "70" "X" "114871207" "114871207" "subst" "0" "00006" "PLS3_000059" "g.114871207G>A" "" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "" "" "" "Germline" "" "" "0" "" "" "g.115636895G>A" "" "likely pathogenic (dominant)" "" "0000933830" "21" "70" "X" "114871207" "114871207" "subst" "0" "00006" "PLS3_000059" "g.114871207G>A" "" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "" "" "" "Germline" "" "" "0" "" "" "g.115636895G>A" "" "likely pathogenic (dominant)" "" "0000933831" "21" "70" "X" "114871207" "114871207" "subst" "0" "00006" "PLS3_000059" "g.114871207G>A" "" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "" "" "" "Germline" "" "" "0" "" "" "g.115636895G>A" "" "likely pathogenic (dominant)" "" "0000933832" "21" "70" "X" "114871207" "114871207" "subst" "0" "00006" "PLS3_000059" "g.114871207G>A" "" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "" "" "" "Germline" "" "" "0" "" "" "g.115636895G>A" "" "likely pathogenic (dominant)" "" "0000933833" "21" "70" "X" "114871207" "114871207" "subst" "0" "00006" "PLS3_000059" "g.114871207G>A" "" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "" "" "" "Germline" "" "" "0" "" "" "g.115636895G>A" "" "likely pathogenic (dominant)" "" "0000933834" "0" "70" "X" "114880841" "114880841" "subst" "0" "00006" "PLS3_000062" "g.114880841G>C" "" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.115646521G>C" "" "likely pathogenic (dominant)" "" "0000933835" "21" "70" "X" "114880841" "114880841" "subst" "0" "00006" "PLS3_000062" "g.114880841G>C" "" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "" "" "" "Germline" "" "" "0" "" "" "g.115646521G>C" "" "likely pathogenic (dominant)" "" "0000933836" "21" "70" "X" "114880841" "114880841" "subst" "0" "00006" "PLS3_000062" "g.114880841G>C" "" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "" "" "" "Germline" "" "" "0" "" "" "g.115646521G>C" "" "likely pathogenic (dominant)" "" "0000933837" "21" "70" "X" "114883762" "114883762" "subst" "0" "00006" "PLS3_000063" "g.114883762A>G" "" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "" "" "" "Germline" "" "" "0" "" "" "g.115649442A>G" "" "likely pathogenic (dominant)" "" "0000933838" "21" "70" "X" "114883762" "114883762" "subst" "0" "00006" "PLS3_000063" "g.114883762A>G" "" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "" "" "" "Germline" "" "" "0" "" "" "g.115649442A>G" "" "likely pathogenic (dominant)" "" "0000933839" "21" "70" "X" "114883762" "114883762" "subst" "0" "00006" "PLS3_000063" "g.114883762A>G" "" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "" "" "" "Germline" "" "" "0" "" "" "g.115649442A>G" "" "likely pathogenic (dominant)" "" "0000933840" "21" "70" "X" "114877727" "114877727" "subst" "0" "00006" "PLS3_000061" "g.114877727A>G" "" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "" "" "" "Germline" "" "" "0" "" "" "g.115643415A>G" "" "likely pathogenic (dominant)" "" "0000933841" "21" "70" "X" "114863631" "114863631" "subst" "0" "00006" "PLS3_000056" "g.114863631C>T" "" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "" "" "" "Germline" "" "" "0" "" "" "g.115629319C>T" "" "likely pathogenic (dominant)" "" "0000933842" "21" "70" "X" "114869313" "114869313" "subst" "0" "00006" "PLS3_000058" "g.114869313A>G" "" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "" "" "" "Germline" "" "" "0" "" "" "g.115635001A>G" "" "likely pathogenic (dominant)" "" "0000933843" "0" "70" "X" "114869227" "114869227" "subst" "0" "00006" "PLS3_000057" "g.114869227C>T" "" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "" "" "" "De novo" "" "" "0" "" "" "g.115634915C>T" "" "likely pathogenic (dominant)" "" "0000933844" "21" "70" "X" "114877691" "114877691" "subst" "0" "00006" "PLS3_000060" "g.114877691T>C" "" "{PMID:Petit 2023:37751738}, {DOI:Petit 2023:10.1016/j.ajhg.2023.09.002}" "" "" "" "Germline" "" "" "0" "" "" "g.115643379T>C" "" "likely pathogenic (dominant)" "" "0000951666" "0" "10" "X" "114864250" "114864250" "subst" "0.000450595" "02329" "PLS3_000028" "g.114864250C>T" "" "" "" "PLS3(NM_001282337.1):c.405C>T (p.F135=), PLS3(NM_005032.7):c.471C>T (p.F157=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000970626" "0" "30" "X" "114880717" "114880717" "subst" "5.67402E-6" "02327" "PLS3_000064" "g.114880717T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984405" "0" "70" "X" "114863570" "114863570" "subst" "0" "02329" "PLS3_000065" "g.114863570A>G" "" "" "" "PLS3(NM_005032.7):c.298A>G (p.K100E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000984406" "0" "30" "X" "114880404" "114880404" "subst" "0.000464498" "02329" "PLS3_000066" "g.114880404T>C" "" "" "" "PLS3(NM_005032.7):c.1275T>C (p.D425=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006367" "0" "70" "X" "114880507" "114880507" "subst" "0" "02329" "PLS3_000067" "g.114880507G>A" "" "" "" "PLS3(NM_005032.7):c.1377+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001027432" "0" "50" "X" "114856638" "114856638" "subst" "0" "02329" "PLS3_000068" "g.114856638A>G" "" "" "" "PLS3(NM_005032.7):c.154A>G (p.K52E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001048338" "21" "90" "X" "114868376" "114868376" "dup" "0" "00006" "PLS3_000069" "g.114868376dup" "" "{PMID:Tuysuz 2022:34902613}" "" "" "ACMG PM1, PM2, PM5, PP2, PP3, PP5, PM6" "Germline" "" "" "0" "" "" "g.115634064dup" "" "pathogenic" "" ## 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 PLS3 ## Count = 96 "{{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}}" "0000003177" "00025329" "30" "-9" "1576" "-9" "1576" "c.-9+1576del" "r.(=)" "p.(=)" "" "0000003178" "00025329" "00" "749" "-21" "749" "-21" "c.749-21del" "r.(=)" "p.(=)" "" "0000007480" "00025329" "30" "-9" "834" "-9" "834" "c.-9+834A>G" "r.(=)" "p.(=)" "" "0000015454" "00025329" "30" "-9" "834" "-9" "834" "c.-9+834A>G" "r.(=)" "p.(=)" "" "0000298933" "00025329" "10" "1242" "0" "1242" "0" "c.1242T>C" "r.(?)" "p.(Pro414=)" "" "0000298934" "00025329" "10" "1294" "0" "1294" "0" "c.1294T>C" "r.(?)" "p.(Leu432=)" "" "0000298935" "00025329" "10" "1377" "17" "1377" "17" "c.1377+17C>T" "r.(=)" "p.(=)" "" "0000298936" "00025329" "30" "321" "0" "321" "0" "c.321T>A" "r.(?)" "p.(Gly107=)" "" "0000298937" "00025329" "10" "749" "-8" "749" "-8" "c.749-8del" "r.(=)" "p.(=)" "" "0000305944" "00025329" "50" "1074" "0" "1076" "0" "c.1074_1076del" "r.(?)" "p.(Val359del)" "" "0000305945" "00025329" "30" "1089" "0" "1089" "0" "c.1089C>T" "r.(?)" "p.(Pro363=)" "" "0000305946" "00025329" "50" "428" "0" "428" "0" "c.428G>C" "r.(?)" "p.(Cys143Ser)" "" "0000337026" "00025329" "70" "1262" "1" "1262" "1" "c.1262+1G>A" "r.spl?" "p.?" "" "0000401236" "00025329" "30" "1242" "0" "1242" "0" "c.1242T>C" "r.(=)" "p.(Pro414=)" "" "0000401237" "00025329" "30" "1294" "0" "1294" "0" "c.1294T>C" "r.(=)" "p.(Leu432=)" "" "0000401238" "00025329" "30" "1476" "0" "1476" "0" "c.1476C>G" "r.(=)" "p.(Thr492=)" "" "0000401239" "00025329" "30" "1545" "0" "1545" "0" "c.1545T>C" "r.(=)" "p.(Asp515=)" "" "0000401240" "00025329" "30" "321" "0" "321" "0" "c.321T>A" "r.(?)" "p.(Gly107=)" "" "0000408283" "00025329" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000408286" "00025329" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000408287" "00025329" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000573131" "00025329" "10" "367" "11" "367" "11" "c.367+11T>C" "r.(=)" "p.(=)" "" "0000573133" "00025329" "10" "749" "-8" "749" "-8" "c.749-8dup" "r.(=)" "p.(=)" "" "0000573134" "00025329" "10" "749" "-7" "749" "-7" "c.749-7C>T" "r.(=)" "p.(=)" "" "0000573135" "00025329" "30" "749" "-4" "749" "-4" "c.749-4C>T" "r.spl?" "p.?" "" "0000573136" "00025329" "30" "767" "0" "767" "0" "c.767G>A" "r.(?)" "p.(Arg256Gln)" "" "0000573137" "00025329" "30" "925" "0" "925" "0" "c.925A>G" "r.(?)" "p.(Ile309Val)" "" "0000573138" "00025329" "30" "925" "0" "925" "0" "c.925A>G" "r.(?)" "p.(Ile309Val)" "" "0000573139" "00025329" "90" "1262" "1" "1262" "1" "c.1262+1G>A" "r.spl?" "p.?" "" "0000573140" "00025329" "90" "1647" "0" "1647" "0" "c.1647del" "r.(?)" "p.(Ser550AlafsTer9)" "" "0000618922" "00025329" "90" "766" "0" "766" "0" "c.766C>T" "r.(?)" "p.(Arg256Ter)" "" "0000618923" "00025329" "50" "1246" "0" "1246" "0" "c.1246G>A" "r.(?)" "p.(Val416Ile)" "" "0000624388" "00025329" "30" "1888" "0" "1888" "0" "c.1888G>C" "r.(?)" "p.(Val630Leu)" "" "0000659052" "00025329" "50" "1802" "0" "1802" "0" "c.1802A>G" "r.(?)" "p.(Tyr601Cys)" "" "0000728355" "00025329" "30" "471" "0" "471" "0" "c.471C>T" "r.(?)" "p.(Phe157=)" "" "0000728356" "00025329" "30" "582" "8" "582" "8" "c.582+8T>G" "r.(=)" "p.(=)" "" "0000728357" "00025329" "30" "582" "8" "582" "8" "c.582+8T>G" "r.(=)" "p.(=)" "" "0000784107" "00025329" "99" "74" "-24" "74" "-24" "c.74-24T>A" "r.spl?" "p.?" "2i" "0000784108" "00025329" "99" "235" "0" "235" "0" "c.235del" "r.(?)" "p.(Tyr79Ilefs*6)" "03" "0000784109" "00025329" "99" "745" "0" "745" "0" "c.745G>T" "r.(?)" "p.(Glu249*)" "07" "0000784110" "00025329" "99" "748" "1" "748" "1" "c.748+1G>A" "r.spl" "p.?" "7i" "0000784111" "00025329" "99" "759" "0" "760" "0" "c.759_760insAAT" "r.(?)" "p.(Ala253_Leu254insAsn)" "08" "0000784112" "00025329" "99" "892" "-1" "892" "-1" "c.892-1G>A" "r.spl" "p.?" "8i" "0000784113" "00025329" "99" "987" "942" "5998" "0" "c.987+942_*4105del" "r.?" "p.?" "9i_16_" "0000784114" "00025329" "99" "994" "0" "995" "0" "c.994_995del" "r.(?)" "p.(Asp332*)" "10" "0000784115" "00025329" "99" "1097" "0" "1101" "0" "c.1097_1101del" "r.(?)" "p.(Asn366Serfs*5)" "10" "0000784116" "00025329" "99" "1103" "0" "1103" "0" "c.1103C>A" "r.(?)" "p.(Ala368Asp)" "10" "0000784117" "00025329" "99" "1433" "0" "1433" "0" "c.1433T>C" "r.(?)" "p.(Leu478Pro)" "13" "0000784118" "00025329" "99" "1471" "0" "1471" "0" "c.1471C>T" "r.(?)" "p.(Gln491*)" "14" "0000784119" "00025329" "99" "1647" "0" "1647" "0" "c.1647del" "r.(?)" "p.(Ser550Alafs*9)" "15" "0000809806" "00025329" "30" "859" "0" "859" "0" "c.859C>A" "r.(?)" "p.(Gln287Lys)" "" "0000856289" "00025329" "50" "487" "0" "487" "0" "c.487G>A" "r.(?)" "p.(Gly163Arg)" "" "0000856290" "00025329" "70" "703" "0" "703" "0" "c.703A>T" "r.(?)" "p.(Ile235Phe)" "" "0000856291" "00025329" "30" "749" "-19" "749" "-19" "c.749-19T>C" "r.(=)" "p.(=)" "" "0000856292" "00025329" "30" "767" "0" "767" "0" "c.767G>A" "r.(?)" "p.(Arg256Gln)" "" "0000856293" "00025329" "30" "1050" "0" "1050" "0" "c.1050A>G" "r.(?)" "p.(Arg350=)" "" "0000856294" "00025329" "50" "1643" "0" "1643" "0" "c.1643C>T" "r.(?)" "p.(Thr548Met)" "" "0000866996" "00025329" "30" "1545" "0" "1545" "0" "c.1545T>C" "r.(?)" "p.(Asp515=)" "" "0000895890" "00025329" "10" "237" "18" "237" "18" "c.237+18C>A" "r.(=)" "p.(=)" "" "0000895891" "00025329" "50" "638" "0" "638" "0" "c.638A>T" "r.(?)" "p.(Asn213Ile)" "" "0000895892" "00025329" "70" "1303" "0" "1303" "0" "c.1303C>T" "r.(?)" "p.(Arg435*)" "" "0000895893" "00025329" "50" "1384" "0" "1384" "0" "c.1384A>G" "r.(?)" "p.(Asn462Asp)" "" "0000918446" "00025329" "90" "1106" "0" "1107" "0" "c.1106_1107insGAAA" "r.(?)" "p.(Phe369Leufs*5)" "10" "0000918447" "00025329" "90" "1106" "0" "1107" "0" "c.1106_1107insGAAA" "r.(?)" "p.(Phe369Leufs*5)" "10" "0000918913" "00025329" "90" "685" "0" "685" "0" "c.685G>A" "r.(?)" "p.(Gly229Arg)" "" "0000931329" "00025329" "30" "367" "251" "367" "251" "c.367+251C>T" "r.(=)" "p.(=)" "" "0000933822" "00025329" "70" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Glu270Lys)" "" "0000933823" "00025329" "70" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Glu270Lys)" "" "0000933824" "00025329" "70" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Glu270Lys)" "" "0000933825" "00025329" "70" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Glu270Lys)" "" "0000933826" "00025329" "70" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Glu270Lys)" "" "0000933827" "00025329" "70" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Glu270Lys)" "" "0000933828" "00025329" "70" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Glu270Lys)" "" "0000933829" "00025329" "70" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Glu270Lys)" "" "0000933830" "00025329" "70" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Glu270Lys)" "" "0000933831" "00025329" "70" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Glu270Lys)" "" "0000933832" "00025329" "70" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Glu270Lys)" "" "0000933833" "00025329" "70" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Glu270Lys)" "" "0000933834" "00025329" "70" "1497" "0" "1497" "0" "c.1497G>C" "r.(?)" "p.(Trp499Cys)" "" "0000933835" "00025329" "70" "1497" "0" "1497" "0" "c.1497G>C" "r.(?)" "p.(Trp499Cys)" "" "0000933836" "00025329" "70" "1497" "0" "1497" "0" "c.1497G>C" "r.(?)" "p.(Trp499Cys)" "" "0000933837" "00025329" "70" "1774" "0" "1774" "0" "c.1774A>G" "r.(?)" "p.(Met592Val)" "" "0000933838" "00025329" "70" "1774" "0" "1774" "0" "c.1774A>G" "r.(?)" "p.(Met592Val)" "" "0000933839" "00025329" "70" "1774" "0" "1774" "0" "c.1774A>G" "r.(?)" "p.(Met592Val)" "" "0000933840" "00025329" "70" "1090" "0" "1090" "0" "c.1090A>G" "r.(?)" "p.(Lys364Glu)" "" "0000933841" "00025329" "70" "359" "0" "359" "0" "c.359C>T" "r.(?)" "p.(Ser120Phe)" "" "0000933842" "00025329" "70" "703" "0" "703" "0" "c.703A>G" "r.(?)" "p.(Ile235Val)" "" "0000933843" "00025329" "70" "617" "0" "617" "0" "c.617C>T" "r.(?)" "p.(Ala206Val)" "" "0000933844" "00025329" "70" "1054" "0" "1054" "0" "c.1054T>C" "r.(?)" "p.(Phe352Leu)" "" "0000951666" "00025329" "10" "471" "0" "471" "0" "c.471C>T" "r.(?)" "p.(Phe157=)" "" "0000970626" "00025329" "30" "1378" "-5" "1378" "-5" "c.1378-5T>C" "r.spl?" "p.?" "" "0000984405" "00025329" "70" "298" "0" "298" "0" "c.298A>G" "r.(?)" "p.(Lys100Glu)" "" "0000984406" "00025329" "30" "1275" "0" "1275" "0" "c.1275T>C" "r.(?)" "p.(=)" "" "0001006367" "00025329" "70" "1377" "1" "1377" "1" "c.1377+1G>A" "r.spl?" "p.?" "" "0001027432" "00025329" "50" "154" "0" "154" "0" "c.154A>G" "r.(?)" "p.(Lys52Glu)" "" "0001048338" "00025329" "90" "565" "0" "565" "0" "c.565dup" "r.(?)" "p.(Thr189AsnfsTer48)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 52 "{{screeningid}}" "{{variantid}}" "0000000209" "0000003177" "0000000209" "0000003178" "0000000209" "0000007480" "0000000210" "0000015454" "0000174217" "0000401236" "0000174218" "0000401237" "0000174219" "0000401238" "0000174220" "0000401239" "0000174221" "0000401240" "0000184271" "0000408283" "0000184272" "0000408286" "0000184273" "0000408287" "0000373833" "0000784114" "0000373842" "0000784107" "0000373843" "0000784108" "0000373844" "0000784109" "0000373845" "0000784110" "0000373846" "0000784111" "0000373847" "0000784112" "0000373848" "0000784113" "0000373850" "0000784115" "0000373851" "0000784116" "0000373852" "0000784117" "0000373853" "0000784118" "0000373854" "0000784119" "0000432831" "0000918446" "0000432832" "0000918447" "0000433270" "0000918913" "0000438230" "0000933822" "0000438231" "0000933823" "0000438232" "0000933824" "0000438233" "0000933825" "0000438234" "0000933826" "0000438235" "0000933827" "0000438236" "0000933828" "0000438237" "0000933829" "0000438238" "0000933830" "0000438239" "0000933831" "0000438240" "0000933832" "0000438241" "0000933833" "0000438242" "0000933834" "0000438243" "0000933835" "0000438244" "0000933836" "0000438245" "0000933837" "0000438246" "0000933838" "0000438247" "0000933839" "0000438248" "0000933840" "0000438249" "0000933841" "0000438250" "0000933842" "0000438251" "0000933843" "0000438252" "0000933844" "0000468504" "0001048338"