### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GPC3) # 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}}" "GPC3" "glypican 3" "X" "q26" "unknown" "NG_009286.1" "UD_132119017453" "" "http://www.LOVD.nl/GPC3" "" "1" "4451" "2719" "300037" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/GPC3_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2016-03-29 21:13:49" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00001058" "GPC3" "transcript variant 2" "003" "NM_004484.3" "" "NP_004475.1" "" "" "" "-197" "2122" "1743" "132669773" "133119673" "00000" "2012-09-13 13:10:14" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00773" "SGBS1" "Simpson-Golabi-Behmel syndrome, type 1 (SGBS1)" "XLR" "312870" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00774" "WT1" "Wilms tumor, type 1, somatic (WT-1, nephroblastoma)" "AD;SMu" "194070" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01544" "RB1" "retinoblastoma, type 1" "AD;SMu" "180200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-01-14 18:01:23" "05262" "SGBS" "Simpson-Golabi-Behmel syndrome (SGBS)" "" "" "" "" "" "00006" "2017-04-21 21:59:47" "00006" "2021-12-10 21:51:32" "05489" "cancer, colon" "cancer, colon" "" "" "" "" "" "00006" "2018-10-26 16:33:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "GPC3" "00139" "GPC3" "00773" "GPC3" "00774" "GPC3" "05262" ## Individuals ## Do not remove or alter this header ## ## Count = 77 "{{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" "" "" "" "" "00060249" "" "" "" "1" "" "00563" "" "" "M" "no" "Italy" "" "0" "" "" "" "" "00103218" "" "" "" "3" "" "01924" "{PMID:Schmidt 2017:28371070}, {DOI:Schmidt 2017:10.1002/ajmg.a.38188}" "3-generation family, 3 affected cousins, unaffected carrier mothers" "M" "no" "Germany" "" "0" "" "" "German" "28371070-Fam1Pat1" "00103223" "" "" "00103218" "1" "" "01924" "{PMID:Schmidt 2017:28371070}, {DOI:Schmidt 2017:10.1002/ajmg.a.38188}" "" "M" "no" "Germany" "" "0" "" "" "German" "28371070-Fam1Pat2" "00103225" "" "" "00101218" "1" "" "01924" "{PMID:Schmidt 2017:28371070}, {DOI:Schmidt 2017:10.1002/ajmg.a.38188}" "" "M" "no" "Germany" "" "0" "" "" "German" "28371070-Fam1Pat3" "00103232" "" "" "" "1" "" "01924" "{PMID:Vaisfeld 2016:27739211}, {DOI:Vaisfeld 2016:10.1002/ajmg.a.38003}" "2 generation family, 1 affected (1F), unaffected non-carrier parents, older brother reported as normal" "F" "no" "Italy" "" "0" "" "" "" "27739211-Pat1" "00103754" "" "" "" "1" "" "01924" "{PMID:Halayem 2015:26692054}, {DOI:Halayem 2015:10.1002/ajmg.a.37518}" "2 generation family, 1 affected, unaffected non-carrier parents" "M" "no" "Tunisia" "" "0" "" "" "" "26692054-P1" "00103756" "" "" "" "4" "" "01924" "{PMID:Magini 2016:27612164}, {DOI:Magini 2016:10.1002/ajmg.a.37873}" "3-generation family; 3 affected fetuses (all terminated pregnancies), carrier mother" "M" "no" "Italy" "00y00m00d" "0" "" "" "white" "27612164-Fam1PatIII1" "00103757" "" "" "00103756" "1" "" "01924" "{PMID:Magini 2016:27612164}, {DOI:Magini 2016:10.1002/ajmg.a.37873}" "" "M" "no" "Italy" "00y00m00d" "0" "" "" "white" "27612164-Fam1PatIII2" "00103758" "" "" "" "1" "" "01924" "{PMID:Magini 2016:27612164}, {DOI:Magini 2016:10.1002/ajmg.a.37873}" "fetus PatIII3" "M" "no" "Italy" "00y00m00d" "0" "" "" "white" "27612164-Fam1PatIII3" "00103759" "" "" "" "2" "" "01924" "{PMID:Magini 2016:27612164}, {DOI:Magini 2016:10.1002/ajmg.a.37873}" "3-generation family; mother, 1 affected fetus (terminated pregnancy, normal twin fetus)" "F" "no" "Italy" "" "0" "" "" "white" "27612164-Fam2PatIIIMot" "00103762" "" "" "" "1" "" "01924" "{PMID:Das Bhowmik 2015:26321508}, {DOI:Das Bhowmik 2015:10.1016/j.gene.2015.08.053}" "2 generation family 1 female carrier (mother) and one affected (1M)." "M" "no" "India" "" "0" "" "" "South Indian" "26321508-P1" "00103763" "" "" "" "1" "" "01924" "{PMID:Spencer 2016:26915941}, {DOI:Spencer 2016:10.7196/SAMJ.2016.v106i3.9476.}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "" "South Africa" "" "0" "" "" "" "26915941-PatB" "00103876" "" "" "00103756" "1" "" "00006" "{PMID:Magini 2016:27612164}, {DOI:Magini 2016:10.1002/ajmg.a.37873}" "mother" "F" "" "Italy" "" "0" "" "" "" "27612164-Fam1MotII" "00103877" "" "" "00103759" "1" "" "00006" "{PMID:Magini 2016:27612164}, {DOI:Magini 2016:10.1002/ajmg.a.37873}" "affected fetus" "M" "no" "Italy" "<00y00m00d" "0" "" "" "" "27612164-Fam2PatIV1" "00108468" "" "" "" "1" "" "02184" "{PMID:Vuillaume 2018:29637653}" "" "M" "" "France" "" "0" "" "" "" "1-P" "00109422" "" "" "" "2" "" "02184" "{PMID:Vuillaume 2018:29637653}" "family, 2 affected" "M" "" "France" "" "0" "" "" "" "2-1-P" "00111171" "" "" "" "1" "" "02184" "{PMID:Vuillaume 2018:29637653}" "" "M" "" "France" "" "0" "" "" "" "3-P" "00117142" "" "" "" "1" "" "02184" "{PMID:Vuillaume 2018:29637653}" "" "M" "" "France" "" "0" "" "" "" "4-P" "00117143" "" "" "" "2" "" "02184" "{PMID:Vuillaume 2018:29637653}" "family, 2 affected" "M" "" "France" "" "0" "" "" "" "5-1-P" "00117144" "" "" "" "2" "" "02184" "{PMID:Vuillaume 2018:29637653}" "family, 2 affected" "M" "" "France" "" "0" "" "" "" "6-1-T" "00117145" "" "" "" "1" "" "02184" "{PMID:Vuillaume 2018:29637653}" "" "M" "" "France" "" "0" "" "" "" "7-P" "00117146" "" "" "" "2" "" "02184" "{PMID:Vuillaume 2018:29637653}" "family, 2 affected" "M" "" "France" "" "0" "" "" "" "8-1-T" "00117147" "" "" "" "1" "" "02184" "{PMID:Vuillaume 2018:29637653}" "" "M" "" "France" "" "0" "" "" "" "9-T" "00117148" "" "" "" "1" "" "02184" "{PMID:Vuillaume 2018:29637653}" "" "M" "" "France" "" "0" "" "" "" "10-T" "00117149" "" "" "" "1" "" "02184" "{PMID:Vuillaume 2018:29637653}" "" "M" "" "France" "" "0" "" "" "" "11-P" "00117150" "" "" "" "1" "" "02184" "{PMID:Vuillaume 2018:29637653}" "" "M" "" "France" "" "0" "" "" "" "12-P" "00117151" "" "" "" "1" "" "02184" "{PMID:Vuillaume 2018:29637653}" "" "M" "" "France" "" "0" "" "" "" "13-T" "00117152" "" "" "" "1" "" "02184" "{PMID:Vuillaume 2018:29637653}" "" "M" "" "France" "" "0" "" "" "" "14-P" "00117153" "" "" "" "2" "" "02184" "{PMID:Vuillaume 2018:29637653}" "family, 2 affected" "M" "" "France" "" "0" "" "" "" "15-1" "00117154" "" "" "" "1" "" "02184" "{PMID:Vuillaume 2018:29637653}" "" "M" "" "France" "" "0" "" "" "" "16-T" "00117155" "" "" "" "1" "" "02184" "{PMID:Vuillaume 2018:29637653}" "" "M" "" "France" "" "0" "" "" "" "17-P" "00117156" "" "" "" "1" "" "02184" "{PMID:Vuillaume 2018:29637653}" "" "M" "" "France" "" "0" "" "" "" "18-P" "00117157" "" "" "" "2" "" "02184" "{PMID:Vuillaume 2018:29637653}" "family, 2 affected" "M" "" "France" "" "0" "" "" "" "19-1-P" "00117158" "" "" "" "1" "" "02184" "{PMID:Vuillaume 2018:29637653}" "" "M" "" "France" "" "0" "" "" "" "20-P" "00117159" "" "" "" "3" "" "02184" "{PMID:Vuillaume 2018:29637653}" "family, 3 affected" "M" "" "France" "" "0" "" "" "" "21-1-P" "00117160" "" "" "" "1" "" "02184" "{PMID:Vuillaume 2018:29637653}" "" "M" "" "France" "" "0" "" "" "" "22-T" "00117161" "" "" "" "1" "" "02184" "{PMID:Vuillaume 2018:29637653}" "" "M" "" "France" "" "0" "" "" "" "23-T" "00117162" "" "" "" "2" "" "02184" "{PMID:Vuillaume 2018:29637653}" "family, 2 affected" "M" "" "France" "" "0" "" "" "" "24-1-P" "00117163" "" "" "" "4" "" "02184" "{PMID:Vuillaume 2018:29637653}" "family, 4 affected" "M" "" "France" "" "0" "" "" "" "25-1-T" "00117164" "" "" "" "2" "" "02184" "{PMID:Vuillaume 2018:29637653}" "family, 2 affected" "M" "" "France" "" "0" "" "" "" "26-1-P" "00117165" "" "" "" "1" "" "02184" "{PMID:Vuillaume 2018:29637653}" "" "M" "" "France" "" "0" "" "" "" "27-T" "00117166" "" "" "" "1" "" "02184" "{PMID:Vuillaume 2018:29637653}" "" "M" "" "France" "" "0" "" "" "" "28-T" "00117167" "" "" "" "1" "" "02184" "{PMID:Vuillaume 2018:29637653}" "" "M" "" "France" "" "0" "" "" "" "29-P" "00117168" "" "" "" "1" "" "02184" "{PMID:Vuillaume 2018:29637653}" "" "M" "" "France" "" "0" "" "" "" "30-P" "00117169" "" "" "" "1" "" "02184" "{PMID:Vuillaume 2018:29637653}" "" "M" "" "France" "" "0" "" "" "" "31-T" "00117170" "" "" "" "1" "" "02184" "{PMID:Vuillaume 2018:29637653}" "" "M" "" "France" "" "0" "" "" "" "32-T" "00117171" "" "" "" "2" "" "02184" "{PMID:Vuillaume 2018:29637653}" "family, 2 affected" "M" "" "France" "" "0" "" "" "" "33-1" "00117172" "" "" "" "1" "" "02184" "{PMID:Vuillaume 2018:29637653}" "" "M" "" "France" "" "0" "" "" "" "34-T" "00117173" "" "" "" "1" "" "02184" "{PMID:Vuillaume 2018:29637653}" "" "M" "" "France" "" "0" "" "" "" "35-P" "00117174" "" "" "" "1" "" "02184" "{PMID:Vuillaume 2018:29637653}" "" "M" "" "France" "" "0" "" "" "" "36-T" "00117175" "" "" "" "1" "" "02184" "{PMID:Vuillaume 2018:29637653}" "" "M" "" "France" "" "0" "" "" "" "37-T" "00117176" "" "" "" "1" "" "02184" "{PMID:Vuillaume 2018:29637653}" "" "M" "" "France" "" "0" "" "" "" "38-P" "00117177" "" "" "" "1" "" "02184" "{PMID:Vuillaume 2018:29637653}" "" "M" "" "France" "" "0" "" "" "" "39-T" "00117178" "" "" "" "1" "" "02184" "{PMID:Vuillaume 2018:29637653}" "" "M" "" "France" "" "0" "" "" "" "40-P" "00117179" "" "" "" "1" "" "02184" "{PMID:Vuillaume 2018:29637653}" "" "M" "" "France" "" "0" "" "" "" "41-T" "00117180" "" "" "" "1" "" "02184" "{PMID:Vuillaume 2018:29637653}" "" "M" "" "France" "" "0" "" "" "" "42-T" "00117181" "" "" "" "1" "" "02184" "{PMID:Vuillaume 2018:29637653}" "" "M" "" "France" "" "0" "" "" "" "43-T" "00117182" "" "" "" "1" "" "02184" "{PMID:Vuillaume 2018:29637653}" "" "M" "" "France" "" "0" "" "" "" "44-T" "00117183" "" "" "" "1" "" "02184" "{PMID:Vuillaume 2018:29637653}" "" "M" "" "France" "" "0" "" "" "" "45-T" "00117184" "" "" "" "1" "" "02184" "{PMID:Vuillaume 2018:29637653}" "" "M" "" "France" "" "0" "" "" "" "46-P" "00117185" "" "" "" "1" "" "02184" "{PMID:Vuillaume 2018:29637653}" "" "M" "" "France" "" "0" "" "" "" "47-T" "00117186" "" "" "" "1" "" "02184" "{PMID:Vuillaume 2018:29637653}" "" "M" "" "France" "" "0" "" "" "" "48-T" "00117187" "" "" "" "1" "" "02184" "{PMID:Vuillaume 2018:29637653}" "" "M" "" "France" "" "0" "" "" "" "49-T" "00294937" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294938" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305268" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307145" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "no" "Brazil" "" "0" "" "" "" "Patient 21" "00307262" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "" "Brazil" "" "" "" "" "" "Patient 86" "00307738" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5411358" "00385932" "" "" "" "2" "" "01261" "{PMID:Ridnõi 2018:30158844}" "2-generation family, 3 affected fetuses, unaffected heterozygous carrier mother" "M" "" "(Estonia)" "" "0" "" "" "" "" "00428222" "" "" "" "1" "" "00006" "{PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}" "family, 1 affected fetus" "M" "" "Germany" "<0d" "0" "" "" "" "Fam3PatII1" "00443659" "" "" "" "1" "" "04599" "" "" "M" "" "Mexico" "" "" "" "" "Mexican" "MXCCR0138" "00449818" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00450293" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG0260" "00450294" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG0769" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 77 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00060249" "00773" "00103218" "05262" "00103223" "05262" "00103225" "05262" "00103232" "00198" "00103754" "05262" "00103756" "05262" "00103757" "05262" "00103758" "05262" "00103759" "00198" "00103762" "00198" "00103763" "00198" "00103876" "00198" "00103877" "05262" "00108468" "05262" "00109422" "05262" "00111171" "05262" "00117142" "05262" "00117143" "05262" "00117144" "05262" "00117145" "05262" "00117146" "05262" "00117147" "05262" "00117148" "05262" "00117149" "05262" "00117150" "05262" "00117151" "05262" "00117152" "05262" "00117153" "05262" "00117154" "05262" "00117155" "05262" "00117156" "05262" "00117157" "05262" "00117158" "05262" "00117159" "05262" "00117160" "05262" "00117161" "05262" "00117162" "05262" "00117163" "05262" "00117164" "05262" "00117165" "05262" "00117166" "05262" "00117167" "05262" "00117168" "05262" "00117169" "05262" "00117170" "05262" "00117171" "05262" "00117172" "05262" "00117173" "05262" "00117174" "05262" "00117175" "05262" "00117176" "05262" "00117177" "05262" "00117178" "05262" "00117179" "05262" "00117180" "05262" "00117181" "05262" "00117182" "05262" "00117183" "05262" "00117184" "05262" "00117185" "05262" "00117186" "05262" "00117187" "05262" "00294937" "00198" "00294938" "00198" "00305268" "00198" "00307145" "01544" "00307262" "01544" "00307738" "00139" "00385932" "05262" "00428222" "00198" "00443659" "05489" "00449818" "00198" "00450293" "00198" "00450294" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00773, 00774, 01157, 01544, 05262, 05489 ## Count = 72 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "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" "" "" "" "" "" "" "" "" "" "0000046793" "00773" "00060249" "00563" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081794" "05262" "00103754" "01924" "Unknown" "06y" "Simpson–Golabi–Behmel syndrome; birth 36w, weight 3350g, length 50cm, OFC 35.5cm; Macrosomia (HP:0001520), Coarse face (HP:0000280), Macrocephaly (HP:0000256), Broad nasal bridge (HP:0000431), Macrostomia (HP:0000154), Macrognathia (HP:0000303), Thoracolumbar kyphosis (HP:0005619), ..." "00y00m00d" "" "" "" "" "" "" "" "" "" "" "0000081795" "05262" "00103756" "00006" "Familial, X-linked recessive" "<00y00m00d" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000081796" "00198" "00103876" "00006" "Unknown" "30y" "heigth 181cm, \"square\" face, high forehead, hypertelorism, protruding mandible" "" "" "" "" "" "" "" "" "" "" "" "0000081797" "00198" "00103759" "00006" "Unknown" "32y" "height 178cm tall, \"square\" face, high forehead, hypertelorism, protruding jaw;\r\nbrother affected with MCA died at birth; reported neonatal death baby boy fathered by maternal uncle" "" "" "" "" "" "" "" "" "" "" "" "0000081798" "05262" "00103877" "00006" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000081799" "05262" "00103758" "01924" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000081800" "05262" "00103757" "00006" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000081801" "05262" "00103232" "01924" "Unknown" "02y03m" "Simpson–Golabi–Behmel syndrome; birth 38w, weight 4410g, length 51cm, OFC 36.5cm; 27m (02y03m) weight 11.1kg, length 75cm, OFC 47cm; Congenital overgrowth (HP:0001548), Postnatal overgrowth (HP:0001548), Coarse face (HP:0000280), Macroglossia (HP:0000158), macrostomia (HP:0000154), Congenital heart defect (HP:0001627), Speech delay (HP:0000750), Intellectual disability (HP:0001249), ..." "00y00m00d" "" "" "" "" "" "" "" "" "" "" "0000081802" "05262" "00103218" "01924" "Familial, X-linked recessive" "02y10m" "Pre- and postnatal overgrowth syndrome with intellectual disability and congenital malformations; ultrasonograph macrosomia (HP:0001520), polyhydramnios (HP:0001561); birth 27w weight 1400g, length 40cm, OFC 29cm; 02y10m weight 17,7kg, length 99cm, OFC 49.2cm; brachycephaly (HP:0000248), coarse face (HP:0000280), hypertelorism (HP:0000316), epicanthal folds (HP:0000286), short nose (HP:0003196), broad nasal bridge (HP:0000431), arched eyebrows (HP:0002553), macrostomia (HP:0000154), macroglossia (HP:0000158), midline furrow of the tongue (HP:0000221), prognathism (HP:0000303), sparse hair (HP:0008070), low-set posteriorly rotated ears (HP:0000368), pectus carinatum (HP:0000768), broad fingers (HP:0001500), toes with short nails (HP:0001799); X-ray broad shortened phalanges (HP:0009803, HP:0006009), delayed bone age (HP:0002750), ..." "00y00m00d" "" "" "" "" "" "" "" "" "" "" "0000081803" "05262" "00103225" "01924" "Familial, X-linked recessive" "07y04m" "pre- and postnatal overgrowth syndrome with intellectual disability and congenital malformations; birth 36w weight 3940g, length 54cm, OFC 35.5cm; 07y04m weight 34.3kg, length 138cm, OFC 55.3cm; Neurodevelopmental delay, delayed speech, coarse face (HP:0000280),hypertelorism (HP:0000316), short nose (HP:0003196), broad nasal bridge (HP:0000431), long philtrum (HP:0000343), macrostomia (HP:0000154), macroglossia (HP:0000158), midline furrow of the tongue (HP:0000221), prognathism (HP:0000303), arched bushy eyebrows (HP:0000574, HP:0002553), synophrys (HP:0000664), ..." "00y00m00d" "" "" "" "" "" "" "" "" "" "" "0000081804" "05262" "00103223" "01924" "Familial, X-linked recessive" "01y09m" "pre- and postnatal overgrowth syndrome with intellectual disability and congenital malformations; birth 37w weight 4010g, length 56cm, OFC 36 cm; 01y09m weight 15kg, length 89.3cm, OFC 50.5cm;\r\ncoarse face (HP:0000280), hypertelorism (HP:0000316), epicanthal folds (HP:0000286), short nose (HP:0003196), broad nasal bridge (HP:0000431), prognatism (HP:0000303), macrostomia (HP:0000154), macroglossia (HP:0000158), downturned lower lip (HP:0000232), bifid uvula (HP:0000193), low-set posteriorly rotated ears (HP:0000368), arched eyebrows (HP:0002553)" "00y00m00d" "" "" "" "" "" "" "" "" "" "" "0000081886" "00198" "00103762" "01924" "Familial, X-linked" "06y" "Overgrowth syndrome; birth by cesarean section, weight 4200g; 06y normal milestones, generalized overgrowth (HP:0001548) with height, weight and head circumference above 95th centile for age and gender." "00y00m00d" "06y" "" "" "" "" "" "" "" "overgrowth syndrome" "" "0000086064" "05262" "00108468" "02184" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092386" "05262" "00117142" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092387" "05262" "00117143" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092388" "05262" "00117144" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092389" "05262" "00117145" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092390" "05262" "00117146" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092391" "05262" "00117147" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092392" "05262" "00117148" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092393" "05262" "00117149" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092394" "05262" "00117150" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092395" "05262" "00117151" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092396" "05262" "00117152" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092397" "05262" "00117153" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092398" "05262" "00117154" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092399" "05262" "00117155" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092400" "05262" "00117156" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092401" "05262" "00117157" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092402" "05262" "00117158" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092403" "05262" "00117159" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092404" "05262" "00117160" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092405" "05262" "00117161" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092406" "05262" "00117162" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092407" "05262" "00117163" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092408" "05262" "00117164" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092409" "05262" "00117165" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092410" "05262" "00117166" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092411" "05262" "00117167" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092412" "05262" "00117168" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092413" "05262" "00117169" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092414" "05262" "00117170" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092415" "05262" "00117171" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092416" "05262" "00117172" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092417" "05262" "00117173" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092418" "05262" "00117174" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092419" "05262" "00117175" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092420" "05262" "00117176" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092421" "05262" "00117177" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092422" "05262" "00117178" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092423" "05262" "00117179" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092424" "05262" "00117180" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092425" "05262" "00117181" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092426" "05262" "00117182" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092427" "05262" "00117183" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092428" "05262" "00117184" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092429" "05262" "00117185" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092430" "05262" "00117186" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092431" "05262" "00117187" "02184" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092432" "05262" "00111171" "02184" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000232950" "01544" "00307145" "03753" "Unknown" "" "Unilateral" "" "00y32m" "HP:0000555" "" "" "" "" "" "" "" "" "0000233066" "01544" "00307262" "03753" "Unknown" "" "Unilateral" "" "00y05m" "HP:0000486" "" "" "" "" "" "" "" "" "0000279733" "05262" "00385932" "01261" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "Simpson-Golabi-Behmel (SGBS) syndrome" "" "" "0000319134" "00198" "00428222" "00006" "Familial, X-linked recessive" "<0d" "termination pregnancy 25w; reduced fetal movements; contractures xrists, knees, talipes equinovarus (bilateral); no dysmorphism; echogenic areas in the myocardium of the ventricular septum and left ventricle" "" "" "" "" "" "" "" "" "SGBS1" "fetal akinesia" "" "0000332960" "05489" "00443659" "04599" "Unknown" "40" "" "" "" "" "" "" "" "" "" "" "" "" "0000338964" "00198" "00449818" "03544" "Unknown" "" "HP:0033794, HP:0000767, HP:0000193, HP:0001264" "" "" "" "" "" "" "" "" "SGBS1" "gigantism" "" "0000339353" "00198" "00450293" "00006" "Unknown" "4y" "overgrowth; Intellectual disability;" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339354" "00198" "00450294" "00006" "Unknown" "0y2m" "overgrowth head; mild intellectual disability;" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339541" "05262" "00109422" "00006" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "SGBS1" "Simpson-Golabi-Behmel syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 77 "{{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" "" "" "0000060234" "00060249" "1" "00563" "00563" "2016-03-18 12:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000103673" "00103218" "1" "01924" "01924" "2017-04-10 16:40:46" "00006" "2017-04-21 23:13:57" "arrayCGH;RT-PCR;SEQ" "DNA;RNA" "Total Blood" "" "0000103679" "00103223" "1" "01924" "01924" "2017-04-11 12:23:20" "" "" "arrayCGH;RT-PCRq;SEQ" "DNA;RNA" "Total Blood" "" "0000103681" "00103225" "1" "01924" "01924" "2017-04-11 13:03:12" "" "" "arrayCGH;RT-PCRq;SEQ" "DNA;RNA" "Total Blood" "" "0000104209" "00103232" "1" "01924" "01924" "2017-04-18 15:30:50" "" "" "MAPH;SEQ" "DNA" "Peripheral Blood, skin fibroblast" "" "0000104210" "00103754" "1" "01924" "01924" "2017-04-18 17:49:18" "00006" "2017-04-21 21:54:00" "?" "DNA" "" "" "0000104212" "00103756" "1" "01924" "01924" "2017-04-18 21:32:19" "" "" "arrayCGH;SEQ-NG" "DNA" "" "" "0000104331" "00103876" "1" "00006" "00006" "2017-04-21 22:18:05" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000104332" "00103759" "1" "00006" "00006" "2017-04-21 22:29:46" "" "" "arrayCGH" "DNA" "" "" "0000104333" "00103877" "1" "00006" "00006" "2017-04-21 22:38:44" "" "" "arrayCGH" "DNA" "" "" "0000104334" "00103758" "1" "00006" "00006" "2017-04-21 22:45:37" "" "" "SEQ" "DNA" "" "" "0000104335" "00103757" "1" "00006" "00006" "2017-04-21 22:50:16" "" "" "SEQ" "DNA" "" "" "0000104415" "00103762" "1" "01924" "01924" "2017-04-25 14:34:35" "" "" "SEQ;SEQ-NG" "DNA" "Whole Blood" "" "0000104416" "00103763" "1" "01924" "01924" "2017-04-25 17:02:06" "" "" "SEQ-NG" "DNA" "Venous Blood specimens" "" "0000109210" "00108468" "1" "02184" "02184" "2017-07-28 16:54:55" "" "" "SEQ" "DNA" "" "" "0000109888" "00109422" "1" "02184" "02184" "2017-07-28 17:22:33" "" "" "SEQ" "DNA" "" "" "0000111638" "00111171" "1" "02184" "02184" "2017-08-01 11:54:56" "" "" "SEQ" "DNA" "" "" "0000117602" "00117142" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ" "DNA" "" "" "0000117603" "00117143" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ" "DNA" "" "" "0000117604" "00117144" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ" "DNA" "" "" "0000117605" "00117145" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ" "DNA" "" "" "0000117606" "00117146" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ" "DNA" "" "" "0000117607" "00117147" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ" "DNA" "" "" "0000117608" "00117148" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ" "DNA" "" "" "0000117609" "00117149" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ" "DNA" "" "" "0000117610" "00117150" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ" "DNA" "" "" "0000117611" "00117151" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ" "DNA" "" "" "0000117612" "00117152" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ" "DNA" "" "" "0000117613" "00117153" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ" "DNA" "" "" "0000117614" "00117154" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ" "DNA" "" "" "0000117615" "00117155" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ" "DNA" "" "" "0000117616" "00117156" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ" "DNA" "" "" "0000117617" "00117157" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ" "DNA" "" "" "0000117618" "00117158" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ" "DNA" "" "" "0000117619" "00117159" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ" "DNA" "" "" "0000117620" "00117160" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ" "DNA" "" "" "0000117621" "00117161" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ" "DNA" "" "" "0000117622" "00117162" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ" "DNA" "" "" "0000117623" "00117163" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ" "DNA" "" "" "0000117624" "00117164" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ" "DNA" "" "" "0000117625" "00117165" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ" "DNA" "" "" "0000117626" "00117166" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ" "DNA" "" "" "0000117627" "00117167" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ" "DNA" "" "" "0000117628" "00117168" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ" "DNA" "" "" "0000117629" "00117169" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ" "DNA" "" "" "0000117630" "00117170" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ;MLPA" "DNA" "" "" "0000117631" "00117171" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ;MLPA" "DNA" "" "" "0000117632" "00117172" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ;MLPA;arrayCGH" "DNA" "" "" "0000117633" "00117173" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ;MLPA;arrayCGH" "DNA" "" "" "0000117634" "00117174" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ;MLPA;arrayCGH" "DNA" "" "" "0000117635" "00117175" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ;MLPA" "DNA" "" "" "0000117636" "00117176" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ;MLPA" "DNA" "" "" "0000117637" "00117177" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ;MLPA" "DNA" "" "" "0000117638" "00117178" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ;MLPA" "DNA" "" "" "0000117639" "00117179" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ;MLPA;arrayCGH" "DNA" "" "" "0000117640" "00117180" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ;MLPA;arrayCGH" "DNA" "" "" "0000117641" "00117181" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ;MLPA" "DNA" "" "" "0000117642" "00117182" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ;MLPA" "DNA" "" "" "0000117643" "00117183" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ;MLPA" "DNA" "" "" "0000117644" "00117184" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ;MLPA;arrayCGH" "DNA" "" "" "0000117645" "00117185" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "SEQ;MLPA;RT-PCR" "DNA;RNA" "" "" "0000117646" "00117186" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "arrayCGH;MLPA;RT-PCR" "DNA;RNA" "" "" "0000117647" "00117187" "1" "02184" "00006" "2017-08-01 16:01:35" "" "" "arrayCGH;MLPA;RT-PCR" "DNA;RNA" "" "" "0000296105" "00294937" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296106" "00294938" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306397" "00305268" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308287" "00307145" "1" "03753" "03753" "2020-08-04 20:52:23" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "" "0000308404" "00307262" "1" "03753" "03753" "2020-08-07 04:11:37" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "160 genes" "0000308878" "00307738" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000387160" "00385932" "1" "01261" "01261" "2021-10-19 07:16:18" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000429633" "00428222" "1" "00006" "00006" "2022-12-24 16:09:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445152" "00443659" "1" "04599" "04599" "2023-11-30 00:00:01" "" "" "SEQ-NG-I" "DNA" "Blood" "TruSight Cancer Sequencing Panel" "0000451413" "00449818" "1" "03544" "03544" "2024-05-16 09:37:24" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000451889" "00450293" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451890" "00450294" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 65 "{{screeningid}}" "{{geneid}}" "0000103673" "GPC3" "0000103679" "GPC3" "0000103681" "GPC3" "0000104209" "GPC3" "0000104210" "GPC3" "0000104212" "GPC3" "0000104331" "GPC3" "0000104332" "GPC3" "0000104333" "GPC3" "0000104334" "GPC3" "0000104335" "GPC3" "0000104415" "GPC3" "0000104416" "GPC3" "0000109210" "GPC3" "0000109888" "GPC3" "0000111638" "GPC3" "0000117602" "GPC3" "0000117603" "GPC3" "0000117604" "GPC3" "0000117605" "GPC3" "0000117606" "GPC3" "0000117607" "GPC3" "0000117608" "GPC3" "0000117609" "GPC3" "0000117610" "GPC3" "0000117611" "GPC3" "0000117612" "GPC3" "0000117613" "GPC3" "0000117614" "GPC3" "0000117615" "GPC3" "0000117616" "GPC3" "0000117617" "GPC3" "0000117618" "GPC3" "0000117619" "GPC3" "0000117620" "GPC3" "0000117621" "GPC3" "0000117622" "GPC3" "0000117623" "GPC3" "0000117624" "GPC3" "0000117625" "GPC3" "0000117626" "GPC3" "0000117627" "GPC3" "0000117628" "GPC3" "0000117629" "GPC3" "0000117630" "GPC3" "0000117631" "GPC3" "0000117632" "GPC3" "0000117633" "GPC3" "0000117634" "GPC3" "0000117635" "GPC3" "0000117636" "GPC3" "0000117637" "GPC3" "0000117638" "GPC3" "0000117639" "GPC3" "0000117640" "GPC3" "0000117641" "GPC3" "0000117642" "GPC3" "0000117643" "GPC3" "0000117644" "GPC3" "0000117645" "GPC3" "0000117646" "GPC3" "0000117647" "GPC3" "0000308287" "RB1" "0000308878" "GPC3" "0000445152" "GPC3" ## 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 = 177 "{{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}}" "0000003246" "0" "30" "X" "132888207" "132888207" "del" "0" "00037" "GPC3_000005" "g.132888207del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.133754180del" "" "likely benign" "" "0000007663" "20" "30" "X" "133086829" "133086829" "subst" "0" "00037" "GPC3_000001" "g.133086829C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.133952802C>T" "" "likely benign" "" "0000009801" "0" "30" "X" "132670067" "132670067" "dup" "0" "00037" "GPC3_000004" "g.132670067dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.133536039dup" "" "likely benign" "" "0000011218" "0" "30" "X" "132670054" "132670054" "del" "0" "00037" "GPC3_000002" "g.132670054del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.133536026del" "" "likely benign" "" "0000011219" "0" "30" "X" "132888207" "132888207" "del" "0" "00037" "GPC3_000005" "g.132888207del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.133754180del" "" "likely benign" "" "0000015629" "20" "30" "X" "133086829" "133086829" "subst" "0" "00037" "GPC3_000001" "g.133086829C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.133952802C>T" "" "likely benign" "" "0000091228" "21" "90" "X" "132888195" "132888195" "subst" "0" "00563" "GPC3_000003" "g.132888195C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.133754168C>A" "" "pathogenic" "" "0000167155" "21" "90" "X" "132785619" "132829237" "del" "0" "01924" "GPC3_000009" "g.132785619_132829237del" "" "{PMID:Schmidt 2017:28371070}, {DOI:Schmidt 2017:10.1002/ajmg.a.38188}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133651591_133695209del" "" "pathogenic" "" "0000167156" "21" "90" "X" "132785619" "132829237" "del" "0" "01924" "GPC3_000009" "g.132785619_132829237del" "" "{PMID:Schmidt 2017:28371070}, {DOI:Schmidt 2017:10.1002/ajmg.a.38188}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133651591_133695209del" "" "pathogenic" "" "0000167158" "21" "90" "X" "132785619" "132829237" "del" "0" "01924" "GPC3_000009" "g.132785619_132829237del" "" "{PMID:Schmidt 2017:28371070}, {DOI:Schmidt 2017:10.1002/ajmg.a.38188}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133651591_133695209del" "" "pathogenic" "" "0000168866" "1" "90" "X" "133119301" "133119673" "" "0" "01924" "GPC3_000008" "g.(133087239_133119301)_(133119673_?)del" "" "{PMID:Vaisfeld 2016:27739211}, {DOI:Vaisfeld 2016:10.1002/ajmg.a.38003}" "" "" "no skewed X inactivation" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "" "0000168869" "21" "90" "X" "132888195" "132888195" "subst" "0" "01924" "GPC3_000003" "g.132888195C>A" "" "{PMID:Magini 2016:27612164}, {DOI:Magini 2016:10.1002/ajmg.a.37873}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133754168C>A" "" "pathogenic" "" "0000169010" "0" "90" "X" "132670151" "132795879" "" "0" "00006" "GPC3_000006" "g.(?_132670151)_(132795879_132826396)del" "" "{PMID:Halayem 2015:26692054}, {DOI:Halayem 2015:10.1002/ajmg.a.37518}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "" "0000169011" "0" "90" "X" "132888195" "132888195" "subst" "0" "00006" "GPC3_000003" "g.132888195C>A" "" "{PMID:Magini 2016:27612164}, {DOI:Magini 2016:10.1002/ajmg.a.37873}" "" "" "" "De novo" "" "" "0" "" "" "g.133754168C>A" "" "pathogenic" "" "0000169012" "0" "90" "X" "132834006" "132986815" "" "0" "00006" "GPC3_000007" "g.(132766827_132834006)_(132986815_133043769)del" "" "{PMID:Magini 2016:27612164}, {DOI:Magini 2016:10.1002/ajmg.a.37873}" "" "" "152.8 kb deletion" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000169013" "21" "90" "X" "132834006" "132986815" "" "0" "00006" "GPC3_000007" "g.(132766827_132834006)_(132986815_133043769)del" "" "{PMID:Magini 2016:27612164}, {DOI:Magini 2016:10.1002/ajmg.a.37873}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000169014" "21" "90" "X" "132888195" "132888195" "subst" "0" "00006" "GPC3_000003" "g.132888195C>A" "" "{PMID:Magini 2016:27612164}, {DOI:Magini 2016:10.1002/ajmg.a.37873}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133754168C>A" "" "pathogenic" "" "0000169015" "21" "90" "X" "132888195" "132888195" "subst" "0" "00006" "GPC3_000003" "g.132888195C>A" "" "{PMID:Magini 2016:27612164}, {DOI:Magini 2016:10.1002/ajmg.a.37873}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133754168C>A" "" "pathogenic" "" "0000169140" "21" "90" "X" "132670204" "132670204" "del" "0" "01924" "GPC3_000010" "g.132670204del" "" "{PMID:Das Bhowmik 2015:26321508}, {DOI:Das Bhowmik 2015:10.1016/j.gene.2015.08.053}" "HindIII -" "1692delT" "mother heterozygous" "Germline" "yes" "" "0" "" "" "g.133536176del" "" "pathogenic" "" "0000169141" "21" "90" "X" "132834015" "132834018" "delins" "0" "01924" "GPC3_000011" "g.132834015_132834018delinsAAG" "" "{PMID:Spencer 2016:26915941}, {DOI:Spencer 2016:10.7196/SAMJ.2016.v106i3.9476.}" "" "1071_1074delTAGAinsCTT" "" "Germline" "yes" "" "0" "" "" "g.133699987_133699990delinsAAG" "" "pathogenic" "" "0000175314" "0" "70" "X" "133087208" "133087208" "subst" "0" "02184" "GPC3_000012" "g.133087208C>T" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133953181C>T" "" "likely pathogenic" "" "0000176384" "0" "70" "X" "132888080" "132888080" "subst" "0" "02184" "GPC3_000013" "g.132888080A>G" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133754053A>G" "" "likely pathogenic" "" "0000178787" "21" "70" "X" "132887657" "132887657" "subst" "0" "02184" "GPC3_000014" "g.132887657T>C" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133753630T>C" "" "likely pathogenic" "" "0000188570" "21" "70" "X" "132795758" "132795758" "subst" "0" "02184" "GPC3_000025" "g.132795758C>G" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133661730C>G" "" "likely pathogenic" "" "0000188571" "21" "70" "X" "132670229" "132670229" "subst" "0" "02184" "GPC3_000020" "g.132670229C>T" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133536201C>T" "" "likely pathogenic" "" "0000188572" "1" "70" "X" "132670229" "132670229" "subst" "0" "02184" "GPC3_000020" "g.132670229C>T" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133536201C>T" "" "likely pathogenic" "" "0000188573" "21" "70" "X" "132670229" "132670229" "subst" "0" "02184" "GPC3_000020" "g.132670229C>T" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133536201C>T" "" "likely pathogenic" "" "0000188574" "21" "70" "X" "132670228" "132670228" "subst" "0" "02184" "GPC3_000019" "g.132670228C>A" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133536200C>A" "" "likely pathogenic" "" "0000188575" "1" "70" "X" "133087158" "133087158" "subst" "0" "02184" "GPC3_000041" "g.133087158G>A" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133953131G>A" "" "likely pathogenic" "" "0000188576" "1" "70" "X" "133087158" "133087158" "subst" "0" "02184" "GPC3_000041" "g.133087158G>A" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133953131G>A" "" "likely pathogenic" "" "0000188577" "21" "70" "X" "133087158" "133087158" "subst" "0" "02184" "GPC3_000041" "g.133087158G>A" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133953131G>A" "" "likely pathogenic" "" "0000188578" "1" "70" "X" "133087158" "133087158" "subst" "0" "02184" "GPC3_000041" "g.133087158G>A" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133953131G>A" "" "likely pathogenic" "" "0000188579" "0" "70" "X" "133087143" "133087143" "subst" "0" "02184" "GPC3_000040" "g.133087143G>A" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "De novo" "yes" "" "0" "" "" "g.133953116G>A" "" "likely pathogenic" "" "0000188580" "1" "70" "X" "132887946" "132887946" "subst" "0" "02184" "GPC3_000035" "g.132887946G>A" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133753919G>A" "" "likely pathogenic" "" "0000188581" "21" "70" "X" "132833930" "132833930" "subst" "0" "02184" "GPC3_000028" "g.132833930G>A" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133699902G>A" "" "likely pathogenic" "" "0000188582" "1" "70" "X" "132833930" "132833930" "subst" "0" "02184" "GPC3_000028" "g.132833930G>A" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133699902G>A" "" "likely pathogenic" "" "0000188583" "1" "70" "X" "132833930" "132833930" "subst" "0" "02184" "GPC3_000028" "g.132833930G>A" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133699902G>A" "" "likely pathogenic" "" "0000188584" "21" "70" "X" "132795760" "132795760" "subst" "0" "02184" "GPC3_000026" "g.132795760G>A" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133661732G>A" "" "likely pathogenic" "" "0000188585" "21" "70" "X" "133119396" "133119397" "delins" "0" "02184" "GPC3_000046" "g.133119396_133119397delinsA" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133985369_133985370delinsA" "" "likely pathogenic" "" "0000188586" "1" "70" "X" "133119341" "133119344" "delins" "0" "02184" "GPC3_000045" "g.133119341_133119344delinsTCCAGAGTCCT" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133985314_133985317delinsTCCAGAGTCCT" "" "likely pathogenic" "" "0000188587" "21" "70" "X" "133087208" "133087209" "ins" "0" "02184" "GPC3_000042" "g.133087208_133087209insG" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133953181_133953182insG" "" "likely pathogenic" "" "0000188588" "0" "70" "X" "132888131" "132888134" "del" "0" "02184" "GPC3_000037" "g.132888131_132888134del" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "De novo" "yes" "" "0" "" "" "g.133754104_133754107del" "" "likely pathogenic" "" "0000188589" "21" "70" "X" "132888011" "132888011" "del" "0" "02184" "GPC3_000036" "g.132888011del" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133753984del" "" "likely pathogenic" "" "0000188590" "21" "70" "X" "132887934" "132887953" "del" "0" "02184" "GPC3_000034" "g.132887934_132887953del" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133753907_133753926del" "" "likely pathogenic" "" "0000188591" "21" "70" "X" "132887880" "132887880" "del" "0" "02184" "GPC3_000033" "g.132887880del" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133753853del" "" "likely pathogenic" "" "0000188592" "21" "70" "X" "132887853" "132887867" "delins" "0" "02184" "GPC3_000032" "g.132887853_132887867delinsT" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133753826_133753840delinsT" "" "likely pathogenic" "" "0000188593" "1" "70" "X" "132887778" "132887785" "del" "0" "02184" "GPC3_000031" "g.132887778_132887785del" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133753751_133753758del" "" "likely pathogenic" "" "0000188594" "21" "70" "X" "132887750" "132887750" "dup" "0" "02184" "GPC3_000030" "g.132887750dup" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133753723dup" "" "likely pathogenic" "" "0000188595" "0" "70" "X" "132833989" "132833990" "del" "0" "02184" "GPC3_000029" "g.132833989_132833990del" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "De novo" "yes" "" "0" "" "" "g.133699961_133699962del" "" "likely pathogenic" "" "0000188596" "21" "70" "X" "133119301" "133119301" "subst" "0" "02184" "GPC3_000044" "g.133119301C>T" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133985274C>T" "" "likely pathogenic" "" "0000188597" "1" "70" "X" "133119300" "133119300" "subst" "0" "02184" "GPC3_000043" "g.133119300A>G" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133985273A>G" "" "likely pathogenic" "" "0000188598" "1" "70" "X" "133119525" "133120216" "del" "0" "02184" "GPC3_000047" "g.133119525_133120216del" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133985498_133986189del" "" "likely pathogenic" "" "0000188599" "21" "70" "X" "133119301" "133119673" "del" "0" "02184" "GPC3_000008" "g.(133087239_133119301)_(133119673_?)del" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000188600" "21" "70" "X" "132971999" "133128643" "del" "0" "02184" "GPC3_000038" "g.(?_132971999)_(133128643_?)del" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000188601" "1" "70" "X" "132761685" "133455720" "del" "0" "02184" "GPC3_000024" "g.(?_132761685)_(133455720_?)del" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000188602" "21" "70" "X" "131540134" "133305858" "del" "0" "02184" "GPC3_000015" "g.(?_131540134)_(133305858_?)del" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000188603" "1" "70" "X" "132833922" "132834057" "del" "0" "02184" "GPC3_000027" "g.(132826523_132833922)_(132834057_132887508)del" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000188604" "0" "70" "X" "132730467" "132795879" "del" "0" "02184" "GPC3_000023" "g.(132670322_132730467)_(132795879_132826396)del" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "De novo" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000188605" "21" "70" "X" "132730467" "132730628" "del" "0" "02184" "GPC3_000022" "g.(132670322_132730467)_(132730628_132795757)del" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000188606" "21" "70" "X" "132730467" "132730628" "del" "0" "02184" "GPC3_000022" "g.(132670322_132730467)_(132730628_132795757)del" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000188607" "0" "70" "X" "131872895" "132761744" "del" "0" "02184" "GPC3_000016" "g.(?_131872895)_(132761744_?)del" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "De novo" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000188608" "21" "70" "X" "132588444" "132744654" "del" "0" "02184" "GPC3_000016" "g.(?_132588444)_(132744654_?)del" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000188609" "21" "70" "X" "132579767" "132695101" "del" "0" "02184" "GPC3_000018" "g.(?_132579767)_(132695101_?)del" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000188610" "1" "70" "X" "132579767" "132695101" "del" "0" "02184" "GPC3_000018" "g.(?_132579767)_(132695101_?)del" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000188611" "0" "70" "X" "132579767" "132695101" "del" "0" "02184" "GPC3_000018" "g.(?_132579767)_(132695101_?)del" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "De novo" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000188612" "21" "70" "X" "132579767" "132695101" "del" "0" "02184" "GPC3_000018" "g.(?_132579767)_(132695101_?)del" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000188613" "1" "70" "X" "133087076" "133087239" "dup" "0" "02184" "GPC3_000039" "g.(132888204_133087076)_(133087239_133119301)del" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000188614" "21" "70" "X" "132161510" "132986815" "dup" "0" "02184" "GPC3_000017" "g.(?_132161510)_(132986815_?)del" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000188615" "21" "70" "X" "132717085" "132769148" "dup" "0" "02184" "GPC3_000021" "g.(?_132717085)_(132769148_?)del" "" "{PMID:Vuillaume 2018:29637653}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000249273" "0" "10" "X" "132838318" "132838318" "del" "0" "02325" "GPC3_000064" "g.132838318del" "" "" "" "GPC3(NM_001164617.1):c.1033-5delT, GPC3(NM_001164617.2):c.1033-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133704290del" "" "benign" "" "0000249863" "0" "30" "X" "132888223" "132888223" "del" "0" "02329" "GPC3_000073" "g.132888223del" "" "" "" "GPC3(NM_001164617.1):c.338-5del (p.?), GPC3(NM_001164617.1):c.338-5delT, GPC3(NM_001164617.2):c.338-5delT, GPC3(NM_004484.4):c.338-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133754196del" "" "likely benign" "" "0000250612" "0" "30" "X" "132888223" "132888223" "del" "0" "02326" "GPC3_000073" "g.132888223del" "" "" "" "GPC3(NM_001164617.1):c.338-5del (p.?), GPC3(NM_001164617.1):c.338-5delT, GPC3(NM_001164617.2):c.338-5delT, GPC3(NM_004484.4):c.338-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133754196del" "" "likely benign" "" "0000250685" "0" "10" "X" "132838318" "132838318" "del" "0" "02326" "GPC3_000077" "g.132838318del" "" "" "" "GPC3(NM_001164617.1):c.1033-5delT, GPC3(NM_001164617.2):c.1033-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133704290del" "" "benign" "" "0000250821" "0" "30" "X" "132826530" "132826530" "subst" "0.00250373" "02326" "GPC3_000054" "g.132826530A>G" "" "" "" "GPC3(NM_001164617.1):c.1236-8T>C (p.(=)), GPC3(NM_001164617.2):c.1236-8T>C, GPC3(NM_004484.4):c.1167-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133692502A>G" "" "likely benign" "" "0000251661" "0" "10" "X" "132670067" "132670067" "del" "0" "02326" "GPC3_000048" "g.132670067del" "" "" "" "GPC3(NM_001164617.2):c.*97delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133536039del" "" "benign" "" "0000251662" "0" "10" "X" "132838307" "132838307" "subst" "0" "02326" "GPC3_000060" "g.132838307A>C" "" "" "" "GPC3(NM_001164617.2):c.1033-6T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133704279A>C" "" "benign" "" "0000251663" "0" "10" "X" "132838307" "132838307" "subst" "0" "02326" "GPC3_000061" "g.132838307A>G" "" "" "" "GPC3(NM_001164617.2):c.1033-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133704279A>G" "" "benign" "" "0000252964" "0" "10" "X" "132888223" "132888223" "del" "0" "01943" "GPC3_000073" "g.132888223del" "" "" "" "GPC3(NM_001164617.1):c.338-5del (p.?), GPC3(NM_001164617.1):c.338-5delT, GPC3(NM_001164617.2):c.338-5delT, GPC3(NM_004484.4):c.338-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133754196del" "" "benign" "" "0000253037" "0" "10" "X" "132838318" "132838318" "del" "0" "01943" "GPC3_000077" "g.132838318del" "" "" "" "GPC3(NM_001164617.1):c.1033-5delT, GPC3(NM_001164617.2):c.1033-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133704290del" "" "benign" "" "0000254040" "0" "30" "X" "132826530" "132826530" "subst" "0.00250373" "01943" "GPC3_000054" "g.132826530A>G" "" "" "" "GPC3(NM_001164617.1):c.1236-8T>C (p.(=)), GPC3(NM_001164617.2):c.1236-8T>C, GPC3(NM_004484.4):c.1167-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133692502A>G" "" "likely benign" "" "0000281125" "0" "30" "X" "132838305" "132838305" "subst" "0" "02325" "GPC3_000058" "g.132838305G>T" "" "" "" "GPC3(NM_001164617.2):c.1033-4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133704277G>T" "" "likely benign" "" "0000283378" "0" "50" "X" "132670286" "132670286" "subst" "0" "02329" "GPC3_000049" "g.132670286C>T" "" "" "" "GPC3(NM_001164617.2):c.1678G>A (p.G560R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133536258C>T" "" "VUS" "" "0000283379" "0" "30" "X" "132888222" "132888223" "del" "0" "02329" "GPC3_000074" "g.132888222_132888223del" "" "" "" "GPC3(NM_001164617.1):c.338-6_338-5del (p.?), GPC3(NM_004484.4):c.338-6_338-5delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133754195_133754196del" "" "likely benign" "" "0000283380" "0" "30" "X" "132888221" "132888223" "del" "0" "02329" "GPC3_000075" "g.132888221_132888223del" "" "" "" "GPC3(NM_004484.4):c.338-7_338-5delTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133754194_133754196del" "" "likely benign" "" "0000284761" "0" "30" "X" "132887500" "132887500" "subst" "0.00098842" "02326" "GPC3_000065" "g.132887500G>A" "" "" "" "GPC3(NM_001164617.1):c.1032+9C>T, GPC3(NM_001164617.2):c.1032+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133753473G>A" "" "likely benign" "" "0000284762" "0" "10" "X" "132838318" "132838318" "dup" "0" "02326" "GPC3_000059" "g.132838318dup" "" "" "" "GPC3(NM_001164617.1):c.1033-5dupT, GPC3(NM_001164617.2):c.1033-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133704290dup" "" "benign" "" "0000284763" "0" "30" "X" "132826404" "132826404" "subst" "0.00617291" "02326" "GPC3_000053" "g.132826404C>T" "" "" "" "GPC3(NM_001164617.1):c.1354G>A (p.V452M, p.(Val452Met)), GPC3(NM_001164617.2):c.1354G>A (p.V452M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133692376C>T" "" "likely benign" "" "0000284764" "0" "10" "X" "132795672" "132795672" "subst" "0" "02326" "GPC3_000052" "g.132795672T>C" "" "" "" "GPC3(NM_001164617.2):c.1482+86A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133661644T>C" "" "benign" "" "0000284765" "0" "30" "X" "132670329" "132670332" "del" "0" "02326" "GPC3_000050" "g.132670329_132670332del" "" "" "" "GPC3(NM_001164617.1):c.1643-7_1643-4del (p.?), GPC3(NM_001164617.1):c.1643-7_1643-4delTTGA, GPC3(NM_001164617.2):c.1643-7_1643-4delTTGA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133536301_133536304del" "" "likely benign" "" "0000284766" "0" "30" "X" "132888182" "132888182" "subst" "0.000297152" "02326" "GPC3_000072" "g.132888182C>T" "" "" "" "GPC3(NM_001164617.1):c.359G>A (p.R120H), GPC3(NM_001164617.2):c.359G>A (p.R120H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133754155C>T" "" "likely benign" "" "0000284767" "0" "30" "X" "132888056" "132888056" "subst" "1.68277E-5" "02326" "GPC3_000070" "g.132888056T>C" "" "" "" "GPC3(NM_001164617.1):c.485A>G (p.N162S), GPC3(NM_001164617.2):c.485A>G (p.N162S), GPC3(NM_004484.3):c.485A>G (p.(Asn162Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133754029T>C" "" "likely benign" "" "0000284768" "0" "30" "X" "132887652" "132887652" "subst" "0.00023519" "02326" "GPC3_000068" "g.132887652T>C" "" "" "" "GPC3(NM_001164617.1):c.889A>G (p.R297G), GPC3(NM_001164617.2):c.889A>G (p.R297G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133753625T>C" "" "likely benign" "" "0000288605" "0" "10" "X" "132826404" "132826404" "subst" "0.00617291" "01943" "GPC3_000053" "g.132826404C>T" "" "" "" "GPC3(NM_001164617.1):c.1354G>A (p.V452M, p.(Val452Met)), GPC3(NM_001164617.2):c.1354G>A (p.V452M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133692376C>T" "" "benign" "" "0000288606" "0" "30" "X" "132670329" "132670332" "del" "0" "01943" "GPC3_000050" "g.132670329_132670332del" "" "" "" "GPC3(NM_001164617.1):c.1643-7_1643-4del (p.?), GPC3(NM_001164617.1):c.1643-7_1643-4delTTGA, GPC3(NM_001164617.2):c.1643-7_1643-4delTTGA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133536301_133536304del" "" "likely benign" "" "0000288607" "0" "30" "X" "132888182" "132888182" "subst" "0.000297152" "01943" "GPC3_000072" "g.132888182C>T" "" "" "" "GPC3(NM_001164617.1):c.359G>A (p.R120H), GPC3(NM_001164617.2):c.359G>A (p.R120H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133754155C>T" "" "likely benign" "" "0000288608" "0" "50" "X" "132888149" "132888149" "subst" "2.25703E-5" "01943" "GPC3_000071" "g.132888149T>C" "" "" "" "GPC3(NM_001164617.1):c.392A>G (p.K131R, p.(Lys131Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133754122T>C" "" "VUS" "" "0000288609" "0" "50" "X" "132887715" "132887715" "subst" "0.000246511" "01943" "GPC3_000069" "g.132887715C>T" "" "" "" "GPC3(NM_001164617.1):c.826G>A (p.G276S), GPC3(NM_001164617.2):c.826G>A (p.G276S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133753688C>T" "" "VUS" "" "0000335572" "0" "50" "X" "132670329" "132670332" "del" "0" "01804" "GPC3_000050" "g.132670329_132670332del" "" "" "" "GPC3(NM_001164617.1):c.1643-7_1643-4del (p.?), GPC3(NM_001164617.1):c.1643-7_1643-4delTTGA, GPC3(NM_001164617.2):c.1643-7_1643-4delTTGA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133536301_133536304del" "" "VUS" "" "0000335574" "0" "30" "X" "132826530" "132826530" "subst" "0.00250373" "01804" "GPC3_000054" "g.132826530A>G" "" "" "" "GPC3(NM_001164617.1):c.1236-8T>C (p.(=)), GPC3(NM_001164617.2):c.1236-8T>C, GPC3(NM_004484.4):c.1167-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133692502A>G" "" "likely benign" "" "0000335575" "0" "50" "X" "132833932" "132833932" "subst" "1.72077E-5" "01804" "GPC3_000055" "g.132833932C>A" "" "" "" "GPC3(NM_001164617.1):c.1226G>T (p.(Ser409Ile)), GPC3(NM_004484.4):c.1157G>T (p.S386I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133699904C>A" "" "VUS" "" "0000335576" "0" "30" "X" "132838274" "132838274" "subst" "0.000357918" "01804" "GPC3_000056" "g.132838274T>C" "" "" "" "GPC3(NM_001164617.1):c.1060A>G (p.(Lys354Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133704246T>C" "" "likely benign" "" "0000335577" "0" "30" "X" "132887546" "132887546" "subst" "0.000162428" "01804" "GPC3_000066" "g.132887546T>C" "" "" "" "GPC3(NM_004484.4):c.995A>G (p.(Gln332Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133753519T>C" "" "likely benign" "" "0000335578" "0" "50" "X" "132887616" "132887616" "subst" "0" "01804" "GPC3_000067" "g.132887616C>T" "" "" "" "GPC3(NM_001164617.1):c.925G>A (p.(Gly309Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133753589C>T" "" "VUS" "" "0000335579" "0" "30" "X" "132888056" "132888056" "subst" "1.68277E-5" "01804" "GPC3_000070" "g.132888056T>C" "" "" "" "GPC3(NM_001164617.1):c.485A>G (p.N162S), GPC3(NM_001164617.2):c.485A>G (p.N162S), GPC3(NM_004484.3):c.485A>G (p.(Asn162Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133754029T>C" "" "likely benign" "" "0000335580" "0" "50" "X" "132888149" "132888149" "subst" "2.25703E-5" "01804" "GPC3_000071" "g.132888149T>C" "" "" "" "GPC3(NM_001164617.1):c.392A>G (p.K131R, p.(Lys131Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133754122T>C" "" "VUS" "" "0000335581" "0" "30" "X" "132888222" "132888223" "del" "0" "01804" "GPC3_000074" "g.132888222_132888223del" "" "" "" "GPC3(NM_001164617.1):c.338-6_338-5del (p.?), GPC3(NM_004484.4):c.338-6_338-5delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133754195_133754196del" "" "likely benign" "" "0000573599" "0" "30" "X" "132670264" "132670264" "subst" "0.000319835" "01804" "GPC3_000078" "g.132670264G>A" "" "" "" "GPC3(NM_001164617.1):c.1700C>T (p.(Pro567Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133536236G>A" "" "likely benign" "" "0000573600" "0" "50" "X" "132730479" "132730479" "subst" "0" "02327" "GPC3_000079" "g.132730479C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133596451C>A" "" "VUS" "" "0000573601" "0" "10" "X" "132826404" "132826404" "subst" "0.00617291" "01804" "GPC3_000053" "g.132826404C>T" "" "" "" "GPC3(NM_001164617.1):c.1354G>A (p.V452M, p.(Val452Met)), GPC3(NM_001164617.2):c.1354G>A (p.V452M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133692376C>T" "" "benign" "" "0000573602" "0" "50" "X" "132826449" "132826449" "subst" "0" "02327" "GPC3_000080" "g.132826449G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133692421G>A" "" "VUS" "" "0000573603" "0" "30" "X" "132826453" "132826453" "subst" "1.67916E-5" "01943" "GPC3_000081" "g.132826453A>G" "" "" "" "GPC3(NM_001164617.1):c.1305T>C (p.H435=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133692425A>G" "" "likely benign" "" "0000573604" "0" "30" "X" "132833980" "132833980" "subst" "0" "01943" "GPC3_000082" "g.132833980T>C" "" "" "" "GPC3(NM_001164617.1):c.1178A>G (p.K393R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133699952T>C" "" "likely benign" "" "0000573605" "0" "30" "X" "132838293" "132838293" "subst" "0" "01943" "GPC3_000083" "g.132838293C>T" "" "" "" "GPC3(NM_001164617.1):c.1041G>A (p.E347=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133704265C>T" "" "likely benign" "" "0000573606" "0" "30" "X" "132838305" "132838305" "subst" "0" "02326" "GPC3_000058" "g.132838305G>T" "" "" "" "GPC3(NM_001164617.2):c.1033-4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133704277G>T" "" "likely benign" "" "0000573609" "0" "10" "X" "132838318" "132838318" "dup" "0" "01943" "GPC3_000059" "g.132838318dup" "" "" "" "GPC3(NM_001164617.1):c.1033-5dupT, GPC3(NM_001164617.2):c.1033-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133704290dup" "" "benign" "" "0000573611" "0" "30" "X" "132887500" "132887500" "subst" "0.00098842" "01943" "GPC3_000065" "g.132887500G>A" "" "" "" "GPC3(NM_001164617.1):c.1032+9C>T, GPC3(NM_001164617.2):c.1032+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133753473G>A" "" "likely benign" "" "0000573612" "0" "30" "X" "132887652" "132887652" "subst" "0.00023519" "01943" "GPC3_000068" "g.132887652T>C" "" "" "" "GPC3(NM_001164617.1):c.889A>G (p.R297G), GPC3(NM_001164617.2):c.889A>G (p.R297G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133753625T>C" "" "likely benign" "" "0000573613" "0" "30" "X" "132887665" "132887665" "subst" "0.000207173" "01943" "GPC3_000084" "g.132887665A>G" "" "" "" "GPC3(NM_001164617.1):c.876T>C (p.I292=), GPC3(NM_001164617.2):c.876T>C (p.I292=), GPC3(NM_004484.4):c.876T>C (p.I292=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133753638A>G" "" "likely benign" "" "0000573614" "0" "30" "X" "132887665" "132887665" "subst" "0.000207173" "02326" "GPC3_000084" "g.132887665A>G" "" "" "" "GPC3(NM_001164617.1):c.876T>C (p.I292=), GPC3(NM_001164617.2):c.876T>C (p.I292=), GPC3(NM_004484.4):c.876T>C (p.I292=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133753638A>G" "" "likely benign" "" "0000573615" "0" "30" "X" "132887715" "132887715" "subst" "0.000246511" "02326" "GPC3_000069" "g.132887715C>T" "" "" "" "GPC3(NM_001164617.1):c.826G>A (p.G276S), GPC3(NM_001164617.2):c.826G>A (p.G276S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133753688C>T" "" "likely benign" "" "0000573616" "0" "50" "X" "132887754" "132887754" "subst" "0" "01943" "GPC3_000085" "g.132887754A>T" "" "" "" "GPC3(NM_001164617.1):c.787T>A (p.S263T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133753727A>T" "" "VUS" "" "0000573619" "0" "30" "X" "132888223" "132888223" "del" "0" "01804" "GPC3_000073" "g.132888223del" "" "" "" "GPC3(NM_001164617.1):c.338-5del (p.?), GPC3(NM_001164617.1):c.338-5delT, GPC3(NM_001164617.2):c.338-5delT, GPC3(NM_004484.4):c.338-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133754196del" "" "likely benign" "" "0000573621" "0" "10" "X" "132888223" "132888223" "dup" "0" "01943" "GPC3_000087" "g.132888223dup" "" "" "" "GPC3(NM_001164617.1):c.338-5dupT, GPC3(NM_001164617.2):c.338-5dupT, GPC3(NM_004484.3):c.338-5dupT, GPC3(NM_004484.4):c.338-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133754196dup" "" "benign" "" "0000573623" "0" "50" "X" "133087088" "133087088" "subst" "1.68076E-5" "01943" "GPC3_000088" "g.133087088G>T" "" "" "" "GPC3(NM_001164617.1):c.326C>A (p.A109E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133953061G>T" "" "VUS" "" "0000573624" "0" "30" "X" "133119309" "133119309" "subst" "8.62838E-5" "02326" "GPC3_000089" "g.133119309G>C" "" "" "" "GPC3(NM_001164617.1):c.168C>G (p.P56=), GPC3(NM_001164617.2):c.168C>G (p.P56=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133985282G>C" "" "likely benign" "" "0000573626" "0" "30" "X" "133119396" "133119398" "dup" "0" "02326" "GPC3_000091" "g.133119396_133119398dup" "" "" "" "GPC3(NM_001164617.1):c.93_94insCCG (p.(Pro31dup)), GPC3(NM_001164617.2):c.91_93dupCCG (p.P31dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133985369_133985371dup" "" "likely benign" "" "0000619011" "0" "30" "X" "132730615" "132730615" "subst" "0" "01943" "GPC3_000051" "g.132730615T>A" "" "" "" "GPC3(NM_001164617.1):c.1495A>T (p.M499L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133596587T>A" "" "likely benign" "" "0000619013" "0" "30" "X" "132887999" "132887999" "subst" "1.68626E-5" "01943" "GPC3_000095" "g.132887999T>C" "" "" "" "GPC3(NM_001164617.1):c.542A>G (p.Q181R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133753972T>C" "" "likely benign" "" "0000624428" "0" "50" "X" "132670312" "132670312" "subst" "0" "01943" "GPC3_000092" "g.132670312T>G" "" "" "" "GPC3(NM_001164617.1):c.1652A>C (p.Y551S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133536284T>G" "" "VUS" "" "0000624429" "0" "30" "X" "132887881" "132887881" "subst" "0.000400542" "01943" "GPC3_000094" "g.132887881G>A" "" "" "" "GPC3(NM_001164617.1):c.660C>T (p.S220=), GPC3(NM_001164617.2):c.660C>T (p.S220=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133753854G>A" "" "likely benign" "" "0000624431" "0" "30" "X" "133119309" "133119309" "subst" "8.62838E-5" "01943" "GPC3_000089" "g.133119309G>C" "" "" "" "GPC3(NM_001164617.1):c.168C>G (p.P56=), GPC3(NM_001164617.2):c.168C>G (p.P56=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133985282G>C" "" "likely benign" "" "0000652794" "1" "30" "X" "132826404" "132826404" "subst" "0.00617291" "03575" "GPC3_000053" "g.132826404C>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous; {DB:CLININexm1658126}" "Germline" "" "" "0" "" "" "g.133692376C>T" "" "likely benign" "" "0000652795" "1" "90" "X" "132833930" "132833930" "subst" "0" "03575" "GPC3_000028" "g.132833930G>A" "6/2749 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 heterozygous, no homozygous; {DB:CLININrs122453121}" "Germline" "" "rs122453121" "0" "" "" "g.133699902G>A" "" "pathogenic" "" "0000659094" "0" "10" "X" "132888223" "132888223" "dup" "0" "02325" "GPC3_000087" "g.132888223dup" "" "" "" "GPC3(NM_001164617.1):c.338-5dupT, GPC3(NM_001164617.2):c.338-5dupT, GPC3(NM_004484.3):c.338-5dupT, GPC3(NM_004484.4):c.338-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133754196dup" "" "benign" "" "0000670085" "0" "30" "X" "132826404" "132826404" "subst" "0.00617291" "03575" "GPC3_000053" "g.132826404C>T" "6/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 homozygous; {DB:CLININexm1658126}" "Germline" "" "" "0" "" "" "g.133692376C>T" "" "likely benign" "" "0000675218" "0" "70" "X" "132826421" "132826421" "subst" "0" "03753" "GPC3_000097" "g.132826421C>T" "0.069" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000682105" "0" "30" "X" "132826441" "132826441" "subst" "1.11947E-5" "01943" "GPC3_000098" "g.132826441C>T" "" "" "" "GPC3(NM_001164617.1):c.1317G>A (p.A439=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682106" "0" "30" "X" "132888056" "132888056" "subst" "1.68277E-5" "01943" "GPC3_000070" "g.132888056T>C" "" "" "" "GPC3(NM_001164617.1):c.485A>G (p.N162S), GPC3(NM_001164617.2):c.485A>G (p.N162S), GPC3(NM_004484.3):c.485A>G (p.(Asn162Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682107" "0" "30" "X" "132888222" "132888222" "subst" "0" "02326" "GPC3_000099" "g.132888222A>G" "" "" "" "GPC3(NM_001164617.2):c.338-19T>C, GPC3(NM_004484.4):c.338-19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682108" "0" "50" "X" "133119396" "133119398" "dup" "0" "01804" "GPC3_000091" "g.133119396_133119398dup" "" "" "" "GPC3(NM_001164617.1):c.93_94insCCG (p.(Pro31dup)), GPC3(NM_001164617.2):c.91_93dupCCG (p.P31dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000682771" "0" "70" "X" "132670253" "132670253" "subst" "1.12148E-5" "03753" "GPC3_000096" "g.132670253C>T" "0.044" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000683312" "0" "70" "X" "132826446" "132826446" "del" "0" "00006" "GPC3_000100" "g.132826446del" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.133692418del" "" "likely pathogenic" "" "0000693356" "0" "30" "X" "132670215" "132670215" "subst" "6.16278E-5" "01943" "GPC3_000101" "g.132670215G>A" "" "" "" "GPC3(NM_001164617.1):c.1749C>T (p.S583=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693357" "0" "30" "X" "133119305" "133119305" "subst" "4.60997E-5" "01943" "GPC3_000102" "g.133119305G>A" "" "" "" "GPC3(NM_001164617.1):c.172C>T (p.P58S), GPC3(NM_001164617.2):c.172C>T (p.P58S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693358" "0" "30" "X" "133119305" "133119305" "subst" "4.60997E-5" "02326" "GPC3_000102" "g.133119305G>A" "" "" "" "GPC3(NM_001164617.1):c.172C>T (p.P58S), GPC3(NM_001164617.2):c.172C>T (p.P58S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728437" "0" "90" "X" "132833930" "132833930" "subst" "0" "02325" "GPC3_000028" "g.132833930G>A" "" "" "" "GPC3(NM_004484.4):c.1159C>T (p.R387*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000728438" "0" "50" "X" "132887780" "132887780" "subst" "3.36893E-5" "02329" "GPC3_000093" "g.132887780C>A" "" "" "" "GPC3(NM_001164617.2):c.761G>T (p.R254L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728439" "0" "30" "X" "132887881" "132887881" "subst" "0.000400542" "02326" "GPC3_000094" "g.132887881G>A" "" "" "" "GPC3(NM_001164617.1):c.660C>T (p.S220=), GPC3(NM_001164617.2):c.660C>T (p.S220=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728440" "0" "10" "X" "132888223" "132888223" "dup" "0" "02326" "GPC3_000087" "g.132888223dup" "" "" "" "GPC3(NM_001164617.1):c.338-5dupT, GPC3(NM_001164617.2):c.338-5dupT, GPC3(NM_004484.3):c.338-5dupT, GPC3(NM_004484.4):c.338-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000809908" "0" "10" "X" "132826530" "132826530" "subst" "0.00250373" "02329" "GPC3_000054" "g.132826530A>G" "" "" "" "GPC3(NM_001164617.1):c.1236-8T>C (p.(=)), GPC3(NM_001164617.2):c.1236-8T>C, GPC3(NM_004484.4):c.1167-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000809909" "0" "30" "X" "132887893" "132887893" "subst" "6.20508E-5" "01943" "GPC3_000103" "g.132887893C>G" "" "" "" "GPC3(NM_001164617.1):c.648G>C (p.M216I), GPC3(NM_004484.4):c.648G>C (p.M216I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809910" "0" "10" "X" "132888223" "132888223" "dup" "0" "02329" "GPC3_000087" "g.132888223dup" "" "" "" "GPC3(NM_001164617.1):c.338-5dupT, GPC3(NM_001164617.2):c.338-5dupT, GPC3(NM_004484.3):c.338-5dupT, GPC3(NM_004484.4):c.338-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000815029" "21" "90" "X" "132833922" "132833922" "subst" "0" "01261" "GPC3_000104" "g.132833922C>A" "" "{PMID:Ridnõi 2018:30158844}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133699894C>A" "" "pathogenic (recessive)" "ACMG" "0000856353" "0" "30" "X" "133119409" "133119409" "subst" "0" "01943" "GPC3_000108" "g.133119409T>C" "" "" "" "GPC3(NM_001164617.1):c.68A>G (p.Q23R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867051" "0" "30" "X" "132670254" "132670254" "subst" "3.36506E-5" "01943" "GPC3_000105" "g.132670254G>A" "" "" "" "GPC3(NM_001164617.1):c.1710C>T (p.N570=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867052" "0" "50" "X" "132670279" "132670279" "subst" "5.61577E-6" "01943" "GPC3_000106" "g.132670279C>G" "" "" "" "GPC3(NM_001164617.1):c.1685G>C (p.S562T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867053" "0" "30" "X" "133087215" "133087215" "subst" "0" "01943" "GPC3_000107" "g.133087215G>A" "" "" "" "GPC3(NM_001164617.1):c.199C>T (p.P67S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895939" "0" "50" "X" "132670301" "132670301" "subst" "0" "02325" "GPC3_000109" "g.132670301C>T" "" "" "" "GPC3(NM_004484.4):c.1594G>A (p.V532M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000909218" "21" "70" "X" "132670229" "132670229" "subst" "0" "00006" "GPC3_000110" "g.132670229C>G" "" "{PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}" "" "" "" "Germline" "" "" "0" "" "" "g.133536201C>G" "" "likely pathogenic (recessive)" "" "0000915605" "0" "50" "X" "132795877" "132795877" "del" "0" "02325" "GPC3_000111" "g.132795877del" "" "" "" "GPC3(NM_004484.3):c.1294delT (p.Y432Tfs*10), GPC3(NM_004484.4):c.1294delT (p.Y432Tfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915606" "0" "70" "X" "132795881" "132795884" "del" "0" "02325" "GPC3_000112" "g.132795881_132795884del" "" "" "" "GPC3(NM_004484.4):c.1293-6_1293-3delTTAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000915607" "0" "30" "X" "132888222" "132888222" "subst" "0" "02329" "GPC3_000099" "g.132888222A>G" "" "" "" "GPC3(NM_001164617.2):c.338-19T>C, GPC3(NM_004484.4):c.338-19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915608" "0" "30" "X" "133087210" "133087210" "subst" "0.00287593" "02326" "GPC3_000113" "g.133087210C>T" "" "" "" "GPC3(NM_004484.3):c.204G>A (p.K68=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927262" "0" "50" "X" "132887893" "132887893" "subst" "6.20508E-5" "02325" "GPC3_000103" "g.132887893C>G" "" "" "" "GPC3(NM_001164617.1):c.648G>C (p.M216I), GPC3(NM_004484.4):c.648G>C (p.M216I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000952050" "0" "90" "X" "132887742" "132887742" "subst" "0" "04599" "GPC3_000114" "g.132887742C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000970749" "0" "50" "X" "132833932" "132833932" "subst" "1.72077E-5" "02325" "GPC3_000055" "g.132833932C>A" "" "" "" "GPC3(NM_001164617.1):c.1226G>T (p.(Ser409Ile)), GPC3(NM_004484.4):c.1157G>T (p.S386I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984457" "0" "50" "X" "132670268" "132670268" "subst" "0" "01804" "GPC3_000115" "g.132670268T>G" "" "" "" "GPC3(NM_004484.4):c.1627A>C (p.(Thr543Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984458" "0" "30" "X" "132821279" "132821279" "subst" "0" "01804" "GPC3_000116" "g.132821279T>C" "" "" "" "GPC3(NM_004484.4):c.1292+5118A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984459" "0" "30" "X" "132958016" "132958016" "subst" "0" "01804" "GPC3_000117" "g.132958016A>T" "" "" "" "GPC3(NM_004484.4):c.338-69813T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984460" "0" "30" "X" "132973608" "132973608" "subst" "0" "01804" "GPC3_000118" "g.132973608A>G" "" "" "" "GPC3(NM_004484.4):c.338-85405T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984461" "0" "50" "X" "133022249" "133022249" "del" "0" "01804" "GPC3_000119" "g.133022249del" "" "" "" "GPC3(NM_004484.4):c.337+64828del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000985285" "21" "70" "X" "133119476" "133119484" "delins" "0" "03544" "GPC3_000120" "g.133119476_133119484delinsGAA" "" "" "" "" "inherited from the mother (heterozygous carrier of the variant)" "Germline" "yes" "" "0" "" "" "g.133985449_133985457delinsGAA" "" "likely pathogenic" "ACMG" "0000985806" "0" "90" "X" "132670280" "132670280" "dup" "0" "00006" "GPC3_000121" "g.132670280dup" "" "{PMID:Tatton-Brown 2017:28475857}" "" "1615dupA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.133536252dup" "" "pathogenic (dominant)" "" "0000985807" "0" "90" "X" "133119404" "133119404" "subst" "0" "00006" "GPC3_000122" "g.133119404G>A" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.133985377G>A" "" "pathogenic (dominant)" "" "0001006442" "0" "30" "X" "132826457" "132826457" "subst" "6.15708E-5" "01804" "GPC3_000123" "g.132826457C>A" "" "" "" "GPC3(NM_004484.3):c.1232G>T (p.(Ser411Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027438" "0" "30" "X" "132887665" "132887665" "subst" "0.000207173" "02329" "GPC3_000084" "g.132887665A>G" "" "" "" "GPC3(NM_001164617.1):c.876T>C (p.I292=), GPC3(NM_001164617.2):c.876T>C (p.I292=), GPC3(NM_004484.4):c.876T>C (p.I292=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044112" "0" "30" "X" "132996534" "132996534" "subst" "0" "01804" "GPC3_000124" "g.132996534C>T" "" "" "" "GPC3(NM_004484.4):c.337+90543G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 GPC3 ## Count = 177 "{{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}}" "0000003246" "00001058" "30" "338" "-4" "338" "-4" "c.338-4del" "r.(?)" "p.(=)" "2i" "0000007663" "00001058" "30" "337" "248" "337" "248" "c.337+248G>A" "r.(=)" "p.(=)" "2i" "0000009801" "00001058" "30" "1840" "0" "1840" "0" "c.*97dup" "r.(=)" "p.(=)" "8" "0000011218" "00001058" "30" "1841" "0" "1841" "0" "c.*98del" "r.(?)" "p.(=)" "8" "0000011219" "00001058" "30" "338" "-4" "338" "-4" "c.338-4del" "r.(?)" "p.(=)" "2i" "0000015629" "00001058" "30" "337" "248" "337" "248" "c.337+248G>A" "r.(=)" "p.(=)" "2i" "0000091228" "00001058" "70" "346" "0" "346" "0" "c.346G>T" "r.(?)" "p.(Glu116*)" "3" "0000167155" "00001058" "90" "1167" "-2714" "1413" "10140" "c.1167-2714_1413+10140del" "r.1167_1413del" "p.Arg389Serfs*3" "4i_6i" "0000167156" "00001058" "90" "1167" "-2714" "1413" "10140" "c.1167-2714_1413+10140del" "r.1167_1413del" "p.Arg389Serfs*3" "4i_6i" "0000167158" "00001058" "90" "1167" "-2714" "1413" "10140" "c.1167-2714_1413+10140del" "r.1167_1413del" "p.Arg389Serfs*3" "4i_6i" "0000168866" "00001058" "90" "-197" "0" "175" "1" "c.(?_-197)_(175+1_176-1)del" "r.0" "p.0" "_1_1i" "0000168869" "00001058" "90" "346" "0" "346" "0" "c.346G>T" "r.(?)" "p.(Glu116*)" "3" "0000169010" "00001058" "90" "1293" "-1" "1744" "0" "c.(1292+1_1293-1)_(*1_?)del" "r.?" "p.?" "5i_8_" "0000169011" "00001058" "90" "346" "0" "346" "0" "c.346G>T" "r.(?)" "p.(Glu116*)" "3" "0000169012" "00001058" "90" "338" "-98612" "1083" "0" "c.(337+43308_338-98612)_(1083_1413+28931)del" "r.?" "p.?" "2i_6i" "0000169013" "00001058" "90" "338" "-98612" "1083" "0" "c.(337+43308_338-98612)_(1083_1413+28931)del" "r.?" "p.?" "2i_6i" "0000169014" "00001058" "90" "346" "0" "346" "0" "c.346G>T" "r.(?)" "p.(Glu116*)" "3" "0000169015" "00001058" "90" "346" "0" "346" "0" "c.346G>T" "r.(?)" "p.(Glu116*)" "3" "0000169140" "00001058" "90" "1692" "0" "1692" "0" "c.1692del" "r.(?)" "p.(Leu565Serfs*63)" "8" "0000169141" "00001058" "90" "1071" "0" "1074" "0" "c.1071_1074delinsCTT" "r.(?)" "p.(Arg358Phefs*16)" "4" "0000175314" "00001058" "70" "206" "0" "206" "0" "c.206G>A" "r.(?)" "p.(Gly69Asp)" "2" "0000176384" "00001058" "70" "461" "0" "461" "0" "c.461T>C" "r.(?)" "p.(Leu154Pro)" "3" "0000178787" "00001058" "70" "884" "0" "884" "0" "c.884A>G" "r.(?)" "p.(Tyr295Cys)" "3" "0000188570" "00001058" "70" "1413" "0" "1413" "0" "c.1413G>C" "r.spl?" "p.(Gln471His)" "6" "0000188571" "00001058" "70" "1666" "0" "1666" "0" "c.1666G>A" "r.(?)" "p.(Gly556Arg)" "8" "0000188572" "00001058" "70" "1666" "0" "1666" "0" "c.1666G>A" "r.(?)" "p.(Gly556Arg)" "8" "0000188573" "00001058" "70" "1666" "0" "1666" "0" "c.1666G>A" "r.(?)" "p.(Gly556Arg)" "8" "0000188574" "00001058" "70" "1667" "0" "1667" "0" "c.1667G>T" "r.(?)" "p.(Gly556Val)" "8" "0000188575" "00001058" "70" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Arg86*)" "2" "0000188576" "00001058" "70" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Arg86*)" "2" "0000188577" "00001058" "70" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Arg86*)" "2" "0000188578" "00001058" "70" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Arg86*)" "2" "0000188579" "00001058" "70" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Gln91*)" "2" "0000188580" "00001058" "70" "595" "0" "595" "0" "c.595C>T" "r.(?)" "p.(Arg199*)" "3" "0000188581" "00001058" "70" "1159" "0" "1159" "0" "c.1159C>T" "r.(?)" "p.(Arg387*)" "4" "0000188582" "00001058" "70" "1159" "0" "1159" "0" "c.1159C>T" "r.(?)" "p.(Arg387*)" "4" "0000188583" "00001058" "70" "1159" "0" "1159" "0" "c.1159C>T" "r.(?)" "p.(Arg387*)" "4" "0000188584" "00001058" "70" "1411" "0" "1411" "0" "c.1411C>T" "r.(?)" "p.(Gln471*)" "6" "0000188585" "00001058" "70" "80" "0" "81" "0" "c.80_81delinsT" "r.(?)" "p.(Pro27Leufs*57)" "1" "0000188586" "00001058" "70" "133" "0" "136" "0" "c.133_136delinsAGGACTCTGGA" "r.(?)" "p.(Leu45Argfs*26)" "1" "0000188587" "00001058" "70" "205" "0" "206" "0" "c.205_206insC" "r.(?)" "p.(Gly69Alafs*48)" "2" "0000188588" "00001058" "70" "408" "0" "411" "0" "c.408_411del" "r.(?)" "p.(Ser136Argfs*27)" "3" "0000188589" "00001058" "70" "530" "0" "530" "0" "c.530del" "r.(?)" "p.(Val177Alafs*6)" "3" "0000188590" "00001058" "70" "591" "0" "610" "0" "c.591_610del" "r.(?)" "p.(Cys197*)" "3" "0000188591" "00001058" "70" "662" "0" "662" "0" "c.662del" "r.(?)" "p.(Lys221Serfs*13)" "3" "0000188592" "00001058" "70" "674" "0" "688" "0" "c.674_688delinsA" "r.(?)" "p.(Val225Aspfs*9)" "3" "0000188593" "00001058" "70" "758" "0" "765" "0" "c.758_765del" "r.(?)" "p.(Gly253Alafs*17)" "3" "0000188594" "00001058" "70" "791" "0" "791" "0" "c.791dup" "r.(?)" "p.(Tyr264*)" "3" "0000188595" "00001058" "70" "1100" "0" "1101" "0" "c.1100_1101del" "r.(?)" "p.(Phe367Tyrfs*2)" "4" "0000188596" "00001058" "70" "175" "1" "175" "1" "c.175+1G>A" "r.spl" "p.?" "1i" "0000188597" "00001058" "70" "175" "2" "175" "2" "c.175+2T>C" "r.spl" "p.?" "1i" "0000188598" "00001058" "70" "-740" "0" "-49" "0" "c.-740_-49del" "r.0?" "p.?" "_1" "0000188599" "00001058" "70" "-1" "0" "175" "1" "c.-197_(175+1_176-1){0}" "r.0?" "p.0?" "_1_1i" "0000188600" "00001058" "70" "-1" "0" "337" "1" "c.-197_(337+1_338-1){0}" "r.0?" "p.0?" "_1_2i" "0000188601" "00001058" "70" "-1" "0" "1413" "1" "c.-197_(1413+1_1414-1){0}" "r.0?" "p.0?" "_1_6i" "0000188602" "00001058" "70" "-1" "0" "1744" "0" "c.-197_*379{0}" "r.0" "p.0" "_1_8_" "0000188603" "00001058" "70" "1033" "-1" "1166" "1" "c.(1032+1_1033-1)_(1166+1_1167-1)del" "r.(?)" "p.(Ile345Glyfs*14)" "3i_4i" "0000188604" "00001058" "70" "1293" "-1" "1573" "1" "c.(1292+1_1293-1)_(1573+1_1574-1)del" "r.(?)" "p.(Tyr432Thrfs*4)" "5i_7i" "0000188605" "00001058" "70" "1414" "-1" "1573" "1" "c.(1413+1_1414-1)_(1573+1_1574-1)del" "r.(?)" "p.(Leu472Asnfs*25)" "6i_7i" "0000188606" "00001058" "70" "1414" "-1" "1573" "1" "c.(1413+1_1414-1)_(1573+1_1574-1)del" "r.(?)" "p.(Leu472Asnfs*25)" "6i_7i" "0000188607" "00001058" "70" "1414" "-1" "1744" "0" "c.(1413+1_1414-1)_*379{0}" "r.(?)" "p.?" "6i_8_" "0000188608" "00001058" "70" "1414" "-1" "1744" "0" "c.(1413+1_1414-1)_*379{0}" "r.(?)" "p.?" "6i_8_" "0000188609" "00001058" "70" "1574" "-1" "1744" "0" "c.(1573+1_1574-1)_*379{0}" "r.(?)" "p.?" "6i_8_" "0000188610" "00001058" "70" "1574" "-1" "1744" "0" "c.(1573+1_1574-1)_*379{0}" "r.(?)" "p.?" "6i_8_" "0000188611" "00001058" "70" "1574" "-1" "1744" "0" "c.(1573+1_1574-1)_*379{0}" "r.(?)" "p.?" "6i_8_" "0000188612" "00001058" "70" "1574" "-1" "1744" "0" "c.(1573+1_1574-1)_*379{0}" "r.(?)" "p.?" "6i_8_" "0000188613" "00001058" "70" "176" "-1" "337" "1" "c.(175+1_176-1)_(337+1_338-1)dup" "r.(?)" "p.Gln112_Glu113ins54" "1i_2i" "0000188614" "00001058" "70" "338" "-1" "1413" "1" "c.(337+1_338-1)_(1413+1_1414-1)dup" "r.(?)" "p.Leu472Argfs*25" "2i_6i" "0000188615" "00001058" "70" "1414" "-1" "1573" "1" "c.(1413+1_1414-1)_(1573+1_1574-1)dup" "r.(?)" "p.Glu525Alafs*11" "6i_7i" "0000249273" "00001058" "10" "1033" "-4250" "1033" "-4250" "c.1033-4250del" "r.(=)" "p.(=)" "" "0000249863" "00001058" "30" "338" "-5" "338" "-5" "c.338-5del" "r.spl?" "p.?" "" "0000250612" "00001058" "30" "338" "-5" "338" "-5" "c.338-5del" "r.spl?" "p.?" "" "0000250685" "00001058" "10" "1033" "-4250" "1033" "-4250" "c.1033-4250del" "r.(=)" "p.(=)" "" "0000250821" "00001058" "30" "1167" "-8" "1167" "-8" "c.1167-8T>C" "r.(=)" "p.(=)" "" "0000251661" "00001058" "10" "1840" "0" "1840" "0" "c.*97del" "r.(?)" "p.(=)" "" "0000251662" "00001058" "10" "1033" "-4251" "1033" "-4251" "c.1033-4251T>G" "r.(=)" "p.(=)" "" "0000251663" "00001058" "10" "1033" "-4251" "1033" "-4251" "c.1033-4251T>C" "r.(=)" "p.(=)" "" "0000252964" "00001058" "10" "338" "-5" "338" "-5" "c.338-5del" "r.spl?" "p.?" "" "0000253037" "00001058" "10" "1033" "-4250" "1033" "-4250" "c.1033-4250del" "r.(=)" "p.(=)" "" "0000254040" "00001058" "30" "1167" "-8" "1167" "-8" "c.1167-8T>C" "r.(=)" "p.(=)" "" "0000281125" "00001058" "30" "1033" "-4249" "1033" "-4249" "c.1033-4249C>A" "r.(=)" "p.(=)" "" "0000283378" "00001058" "50" "1609" "0" "1609" "0" "c.1609G>A" "r.(?)" "p.(Gly537Arg)" "" "0000283379" "00001058" "30" "338" "-6" "338" "-5" "c.338-6_338-5del" "r.spl?" "p.?" "" "0000283380" "00001058" "30" "338" "-7" "338" "-5" "c.338-7_338-5del" "r.spl?" "p.?" "" "0000284761" "00001058" "30" "1032" "9" "1032" "9" "c.1032+9C>T" "r.(=)" "p.(=)" "" "0000284762" "00001058" "10" "1033" "-4250" "1033" "-4250" "c.1033-4250dup" "r.(=)" "p.(=)" "" "0000284763" "00001058" "30" "1285" "0" "1285" "0" "c.1285G>A" "r.(?)" "p.(Val429Met)" "" "0000284764" "00001058" "10" "1413" "86" "1413" "86" "c.1413+86A>G" "r.(=)" "p.(=)" "" "0000284765" "00001058" "30" "1574" "-7" "1574" "-4" "c.1574-7_1574-4del" "r.spl?" "p.?" "" "0000284766" "00001058" "30" "359" "0" "359" "0" "c.359G>A" "r.(?)" "p.(Arg120His)" "" "0000284767" "00001058" "30" "485" "0" "485" "0" "c.485A>G" "r.(?)" "p.(Asn162Ser)" "" "0000284768" "00001058" "30" "889" "0" "889" "0" "c.889A>G" "r.(?)" "p.(Arg297Gly)" "" "0000288605" "00001058" "10" "1285" "0" "1285" "0" "c.1285G>A" "r.(?)" "p.(Val429Met)" "" "0000288606" "00001058" "30" "1574" "-7" "1574" "-4" "c.1574-7_1574-4del" "r.spl?" "p.?" "" "0000288607" "00001058" "30" "359" "0" "359" "0" "c.359G>A" "r.(?)" "p.(Arg120His)" "" "0000288608" "00001058" "50" "392" "0" "392" "0" "c.392A>G" "r.(?)" "p.(Lys131Arg)" "" "0000288609" "00001058" "50" "826" "0" "826" "0" "c.826G>A" "r.(?)" "p.(Gly276Ser)" "" "0000335572" "00001058" "50" "1574" "-7" "1574" "-4" "c.1574-7_1574-4del" "r.spl?" "p.?" "" "0000335574" "00001058" "30" "1167" "-8" "1167" "-8" "c.1167-8T>C" "r.(=)" "p.(=)" "" "0000335575" "00001058" "50" "1157" "0" "1157" "0" "c.1157G>T" "r.(?)" "p.(Ser386Ile)" "" "0000335576" "00001058" "30" "1033" "-4218" "1033" "-4218" "c.1033-4218A>G" "r.(=)" "p.(=)" "" "0000335577" "00001058" "30" "995" "0" "995" "0" "c.995A>G" "r.(?)" "p.(Gln332Arg)" "" "0000335578" "00001058" "50" "925" "0" "925" "0" "c.925G>A" "r.(?)" "p.(Gly309Ser)" "" "0000335579" "00001058" "30" "485" "0" "485" "0" "c.485A>G" "r.(?)" "p.(Asn162Ser)" "" "0000335580" "00001058" "50" "392" "0" "392" "0" "c.392A>G" "r.(?)" "p.(Lys131Arg)" "" "0000335581" "00001058" "30" "338" "-6" "338" "-5" "c.338-6_338-5del" "r.spl?" "p.?" "" "0000573599" "00001058" "30" "1631" "0" "1631" "0" "c.1631C>T" "r.(?)" "p.(Pro544Leu)" "" "0000573600" "00001058" "50" "1562" "0" "1562" "0" "c.1562G>T" "r.(?)" "p.(Arg521Leu)" "" "0000573601" "00001058" "10" "1285" "0" "1285" "0" "c.1285G>A" "r.(?)" "p.(Val429Met)" "" "0000573602" "00001058" "50" "1240" "0" "1240" "0" "c.1240C>T" "r.(?)" "p.(Pro414Ser)" "" "0000573603" "00001058" "30" "1236" "0" "1236" "0" "c.1236T>C" "r.(?)" "p.(His412=)" "" "0000573604" "00001058" "30" "1109" "0" "1109" "0" "c.1109A>G" "r.(?)" "p.(Lys370Arg)" "" "0000573605" "00001058" "30" "1033" "-4237" "1033" "-4237" "c.1033-4237G>A" "r.(=)" "p.(=)" "" "0000573606" "00001058" "30" "1033" "-4249" "1033" "-4249" "c.1033-4249C>A" "r.(=)" "p.(=)" "" "0000573609" "00001058" "10" "1033" "-4250" "1033" "-4250" "c.1033-4250dup" "r.(=)" "p.(=)" "" "0000573611" "00001058" "30" "1032" "9" "1032" "9" "c.1032+9C>T" "r.(=)" "p.(=)" "" "0000573612" "00001058" "30" "889" "0" "889" "0" "c.889A>G" "r.(?)" "p.(Arg297Gly)" "" "0000573613" "00001058" "30" "876" "0" "876" "0" "c.876T>C" "r.(?)" "p.(Ile292=)" "" "0000573614" "00001058" "30" "876" "0" "876" "0" "c.876T>C" "r.(?)" "p.(Ile292=)" "" "0000573615" "00001058" "30" "826" "0" "826" "0" "c.826G>A" "r.(?)" "p.(Gly276Ser)" "" "0000573616" "00001058" "50" "787" "0" "787" "0" "c.787T>A" "r.(?)" "p.(Ser263Thr)" "" "0000573619" "00001058" "30" "338" "-5" "338" "-5" "c.338-5del" "r.spl?" "p.?" "" "0000573621" "00001058" "10" "338" "-5" "338" "-5" "c.338-5dup" "r.spl?" "p.?" "" "0000573623" "00001058" "50" "326" "0" "326" "0" "c.326C>A" "r.(?)" "p.(Ala109Glu)" "" "0000573624" "00001058" "30" "168" "0" "168" "0" "c.168C>G" "r.(?)" "p.(Pro56=)" "" "0000573626" "00001058" "30" "91" "0" "93" "0" "c.91_93dup" "r.(?)" "p.(Pro31dup)" "" "0000619011" "00001058" "30" "1426" "0" "1426" "0" "c.1426A>T" "r.(?)" "p.(Met476Leu)" "" "0000619013" "00001058" "30" "542" "0" "542" "0" "c.542A>G" "r.(?)" "p.(Gln181Arg)" "" "0000624428" "00001058" "50" "1583" "0" "1583" "0" "c.1583A>C" "r.(?)" "p.(Tyr528Ser)" "" "0000624429" "00001058" "30" "660" "0" "660" "0" "c.660C>T" "r.(?)" "p.(Ser220=)" "" "0000624431" "00001058" "30" "168" "0" "168" "0" "c.168C>G" "r.(?)" "p.(Pro56=)" "" "0000652794" "00001058" "30" "1285" "0" "1285" "0" "c.1285G>A" "r.(?)" "p.(Val429Met)" "" "0000652795" "00001058" "90" "1159" "0" "1159" "0" "c.1159C>T" "r.(?)" "p.(Arg387*)" "" "0000659094" "00001058" "10" "338" "-5" "338" "-5" "c.338-5dup" "r.spl?" "p.?" "" "0000670085" "00001058" "30" "1285" "0" "1285" "0" "c.1285G>A" "r.(?)" "p.(Val429Met)" "" "0000675218" "00001058" "70" "1268" "0" "1268" "0" "c.1268G>A" "r.(?)" "p.(Trp423*)" "" "0000682105" "00001058" "30" "1248" "0" "1248" "0" "c.1248G>A" "r.(?)" "p.(Ala416=)" "" "0000682106" "00001058" "30" "485" "0" "485" "0" "c.485A>G" "r.(?)" "p.(Asn162Ser)" "" "0000682107" "00001058" "30" "338" "-19" "338" "-19" "c.338-19T>C" "r.(=)" "p.(=)" "" "0000682108" "00001058" "50" "91" "0" "93" "0" "c.91_93dup" "r.(?)" "p.(Pro31dup)" "" "0000682771" "00001058" "70" "1642" "0" "1642" "0" "c.1642G>A" "r.(?)" "p.(Glu548Lys)" "" "0000683312" "00001058" "70" "1243" "0" "1243" "0" "c.1243del" "r.(?)" "p.(Val415Trpfs*27)" "" "0000693356" "00001058" "30" "1680" "0" "1680" "0" "c.1680C>T" "r.(?)" "p.(Ser560=)" "" "0000693357" "00001058" "30" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.(Pro58Ser)" "" "0000693358" "00001058" "30" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.(Pro58Ser)" "" "0000728437" "00001058" "90" "1159" "0" "1159" "0" "c.1159C>T" "r.(?)" "p.(Arg387*)" "" "0000728438" "00001058" "50" "761" "0" "761" "0" "c.761G>T" "r.(?)" "p.(Arg254Leu)" "" "0000728439" "00001058" "30" "660" "0" "660" "0" "c.660C>T" "r.(?)" "p.(Ser220=)" "" "0000728440" "00001058" "10" "338" "-5" "338" "-5" "c.338-5dup" "r.spl?" "p.?" "" "0000809908" "00001058" "10" "1167" "-8" "1167" "-8" "c.1167-8T>C" "r.(=)" "p.(=)" "" "0000809909" "00001058" "30" "648" "0" "648" "0" "c.648G>C" "r.(?)" "p.(Met216Ile)" "" "0000809910" "00001058" "10" "338" "-5" "338" "-5" "c.338-5dup" "r.spl?" "p.?" "" "0000815029" "00001058" "90" "1166" "1" "1166" "1" "c.1166+1G>T" "r.spl" "p.?" "" "0000856353" "00001058" "30" "68" "0" "68" "0" "c.68A>G" "r.(?)" "p.(Gln23Arg)" "" "0000867051" "00001058" "30" "1641" "0" "1641" "0" "c.1641C>T" "r.(?)" "p.(Asn547=)" "" "0000867052" "00001058" "50" "1616" "0" "1616" "0" "c.1616G>C" "r.(?)" "p.(Ser539Thr)" "" "0000867053" "00001058" "30" "199" "0" "199" "0" "c.199C>T" "r.(?)" "p.(Pro67Ser)" "" "0000895939" "00001058" "50" "1594" "0" "1594" "0" "c.1594G>A" "r.(?)" "p.(Val532Met)" "" "0000909218" "00001058" "70" "1666" "0" "1666" "0" "c.1666G>C" "r.(?)" "p.(Gly556Arg)" "" "0000915605" "00001058" "50" "1294" "0" "1294" "0" "c.1294del" "r.(?)" "p.(Tyr432Thrfs*10)" "" "0000915606" "00001058" "70" "1293" "-6" "1293" "-3" "c.1293-6_1293-3del" "r.spl?" "p.?" "" "0000915607" "00001058" "30" "338" "-19" "338" "-19" "c.338-19T>C" "r.(=)" "p.(=)" "" "0000915608" "00001058" "30" "204" "0" "204" "0" "c.204G>A" "r.(?)" "p.(Lys68=)" "" "0000927262" "00001058" "50" "648" "0" "648" "0" "c.648G>C" "r.(?)" "p.(Met216Ile)" "" "0000952050" "00001058" "90" "799" "0" "799" "0" "c.799G>T" "r.(?)" "p.(Gly267*)" "" "0000970749" "00001058" "50" "1157" "0" "1157" "0" "c.1157G>T" "r.(?)" "p.(Ser386Ile)" "" "0000984457" "00001058" "50" "1627" "0" "1627" "0" "c.1627A>C" "r.(?)" "p.(Thr543Pro)" "" "0000984458" "00001058" "30" "1292" "5118" "1292" "5118" "c.1292+5118A>G" "r.(=)" "p.(=)" "" "0000984459" "00001058" "30" "338" "-69813" "338" "-69813" "c.338-69813T>A" "r.(=)" "p.(=)" "" "0000984460" "00001058" "30" "338" "-85405" "338" "-85405" "c.338-85405T>C" "r.(=)" "p.(=)" "" "0000984461" "00001058" "50" "337" "64828" "337" "64828" "c.337+64828del" "r.(=)" "p.(=)" "" "0000985285" "00001058" "70" "-8" "0" "1" "0" "c.-8_1delinsTTC" "r.?" "p.0?" "" "0000985806" "00001058" "90" "1615" "0" "1615" "0" "c.1615dup" "r.(?)" "p.(Ser539LysfsTer87)" "" "0000985807" "00001058" "90" "73" "0" "73" "0" "c.73C>T" "r.(?)" "p.(Gln25Ter)" "" "0001006442" "00001058" "30" "1232" "0" "1232" "0" "c.1232G>T" "r.(?)" "p.(Ser411Ile)" "" "0001027438" "00001058" "30" "876" "0" "876" "0" "c.876T>C" "r.(?)" "p.(Ile292=)" "" "0001044112" "00001058" "30" "337" "90543" "337" "90543" "c.337+90543G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 81 "{{screeningid}}" "{{variantid}}" "0000000209" "0000003246" "0000000209" "0000007663" "0000000210" "0000009801" "0000000210" "0000011218" "0000000210" "0000011219" "0000000210" "0000015629" "0000060234" "0000091228" "0000103673" "0000167155" "0000103679" "0000167156" "0000103681" "0000167158" "0000104209" "0000168866" "0000104210" "0000169010" "0000104212" "0000168869" "0000104331" "0000169011" "0000104332" "0000169012" "0000104333" "0000169013" "0000104334" "0000169014" "0000104335" "0000169015" "0000104415" "0000169140" "0000104416" "0000169141" "0000109210" "0000175314" "0000109888" "0000176384" "0000111638" "0000178787" "0000117602" "0000188570" "0000117603" "0000188571" "0000117604" "0000188572" "0000117605" "0000188573" "0000117606" "0000188574" "0000117607" "0000188575" "0000117608" "0000188576" "0000117609" "0000188577" "0000117610" "0000188578" "0000117611" "0000188579" "0000117612" "0000188580" "0000117613" "0000188581" "0000117614" "0000188582" "0000117615" "0000188583" "0000117616" "0000188584" "0000117617" "0000188585" "0000117618" "0000188586" "0000117619" "0000188587" "0000117620" "0000188588" "0000117621" "0000188589" "0000117622" "0000188590" "0000117623" "0000188591" "0000117624" "0000188592" "0000117625" "0000188593" "0000117626" "0000188594" "0000117627" "0000188595" "0000117628" "0000188596" "0000117629" "0000188597" "0000117630" "0000188598" "0000117631" "0000188599" "0000117632" "0000188600" "0000117633" "0000188601" "0000117634" "0000188602" "0000117635" "0000188603" "0000117636" "0000188604" "0000117637" "0000188605" "0000117638" "0000188606" "0000117639" "0000188607" "0000117640" "0000188608" "0000117641" "0000188609" "0000117642" "0000188610" "0000117643" "0000188611" "0000117644" "0000188612" "0000117645" "0000188613" "0000117646" "0000188614" "0000117647" "0000188615" "0000296105" "0000652794" "0000296106" "0000652795" "0000306397" "0000670085" "0000308287" "0000675218" "0000308404" "0000682771" "0000308878" "0000683312" "0000387160" "0000815029" "0000429633" "0000909218" "0000445152" "0000952050" "0000451413" "0000985285" "0000451889" "0000985806" "0000451890" "0000985807"