### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SHROOM4) # 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}}" "SHROOM4" "shroom family member 4" "X" "p11.22" "unknown" "NG_011882.1" "UD_132118818078" "" "https://www.LOVD.nl/SHROOM4" "" "1" "29215" "57477" "300579" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/SHROOM4_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2017-01-04 11:44:18" "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}}" "00000455" "SHROOM4" "transcript variant 1" "002" "NM_020717.3" "" "NP_065768.2" "" "" "" "-26" "9535" "4482" "50334642" "50557044" "00000" "2012-09-13 12:18:10" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01067" "SDSX" "Stocco dos Santos X-linked mental retardation syndrome (SDSX)" "XL" "300434" "" "" "" "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" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SHROOM4" "00139" "SHROOM4" "01067" ## Individuals ## Do not remove or alter this header ## ## Count = 19 "{{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" "" "" "" "" "00065242" "" "" "" "1" "" "01606" "{PMID:Harel 2016:26942288}, {DOI:Harel 2016:10.1016/j.ajhg.2016.01.011}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "" ">12y" "0" "" "" "" "26942288 F4 BH14387_1" "00172853" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172854" "" "" "" "3" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172855" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172856" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172857" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172858" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172859" "" "" "" "3" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172860" "" "" "" "51" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172861" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172862" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172863" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00295075" "" "" "" "12" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296795" "" "" "" "1" "" "00006" "{PMID:Redin 2014:25167861}" "2-generation family, 1 affected, unaffected carrier mother and 2 brothers" "M" "" "France" "" "0" "" "" "" "APN-86" "00305313" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00376165" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "181927" "00426156" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, other affecteds in family" "M" "" "Oman" "" "0" "" "" "" "10DK12600" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 19 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00065242" "05162" "00172853" "00187" "00172854" "00187" "00172855" "00187" "00172856" "00187" "00172857" "00187" "00172858" "00187" "00172859" "00187" "00172860" "00187" "00172861" "00187" "00172862" "00187" "00172863" "00187" "00295075" "00198" "00296795" "00139" "00305313" "00198" "00376165" "01067" "00426156" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 00198, 01067, 01157, 05162 ## Count = 17 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "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" "" "" "" "" "" "" "" "" "" "0000051349" "05162" "00065242" "01606" "Isolated (sporadic)" "12y" "Global developmental delay (HP:0001263), Delayed speech and language development (HP:0000750), no seizures (-HP:0001250), Scoliosis (HP:0002650), no microcephaly (Z score -0.34) (-HP:0000252), Low anterior hairline (HP:0000294), Abnormality of the pinna (HP:0000377), Gingival overgrowth (HP:0000212), Micrognathia (HP:0000347), Muscular hypotonia of the trunk (HP:0008936), no limb hypertonia (-HP:0002509), Hyporeflexia (HP:0001265), no dystonic posturing (-HP:0002533), Myopia (HP:0000545), Optic atrophy (HP:0000648), Cerebellar atrophy (HP:0001272), mild cerebral atrophy (HP:0002059), Corpus callosum atrophy (HP:0007371), Vitiligo (HP:0001045)," "" "" "" "" "" "" "" "" "" "" "" "" "0000137717" "00187" "00172853" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137718" "00187" "00172854" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137719" "00187" "00172855" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137720" "00187" "00172856" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137721" "00187" "00172857" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137722" "00187" "00172858" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137723" "00187" "00172859" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137724" "00187" "00172860" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137725" "00187" "00172861" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137726" "00187" "00172862" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137727" "00187" "00172863" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000224194" "00139" "00296795" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000271375" "01067" "00376165" "01164" "Unknown" "" "Prenatal diagnostics, in ultrasound suspicion of Noonan syndrome, or other syndome, karyotype 46, XY" "" "" "" "" "" "" "" "" "" "" "" "" "0000317306" "00139" "00426156" "00006" "Familial, X-linked recessive" "5y" "" "" "" "" "" "" "" "" "" "" "Intellectual developmental disorder, X-linked syndromic, Stocco dos Santos type" "intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 19 "{{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" "" "" "0000065394" "00065242" "1" "01606" "01606" "2016-05-24 10:47:04" "" "" "SEQ" "DNA" "" "" "0000173736" "00172853" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173737" "00172854" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000173738" "00172855" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173739" "00172856" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173740" "00172857" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173741" "00172858" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173742" "00172859" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000173743" "00172860" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000173744" "00172861" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173745" "00172862" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173746" "00172863" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000296243" "00295075" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297905" "00296795" "1" "00006" "00006" "2020-04-13 16:23:48" "" "" "SEQ" "DNA" "" "" "0000306442" "00305313" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000377361" "00376165" "1" "01164" "01164" "2021-06-18 16:22:16" "" "" "SEQ-NG-I" "DNA" "" "" "0000427476" "00426156" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{geneid}}" "0000065394" "EMC1" "0000173736" "SHROOM4" "0000173737" "SHROOM4" "0000173738" "SHROOM4" "0000173739" "SHROOM4" "0000173740" "SHROOM4" "0000173741" "SHROOM4" "0000173742" "LRCH2" "0000173743" "LRCH2" "0000173744" "LRCH2" "0000173745" "LRCH2" "0000173746" "LRCH2" "0000297905" "SHROOM4" "0000377361" "SHROOM4" ## 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 = 131 "{{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}}" "0000001938" "20" "50" "X" "50336536" "50336536" "dup" "0" "00037" "SHROOM4_000027" "g.50336536dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.50593536dup" "" "VUS" "" "0000002971" "20" "50" "X" "50336536" "50336536" "dup" "0" "00037" "SHROOM4_000021" "g.50336536dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.50593536dup" "" "VUS" "" "0000002972" "0" "50" "X" "50378791" "50378791" "del" "0" "00037" "SHROOM4_000020" "g.50378791del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.50635791del" "" "VUS" "" "0000006876" "20" "50" "X" "50336022" "50336022" "subst" "0" "00037" "SHROOM4_000017" "g.50336022A>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.50593022A>T" "" "VUS" "" "0000006877" "20" "50" "X" "50341598" "50341598" "subst" "0" "00037" "SHROOM4_000029" "g.50341598G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.50598598G>A" "" "VUS" "" "0000006878" "20" "50" "X" "50341675" "50341675" "subst" "0" "00037" "SHROOM4_000012" "g.50341675G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.50598675G>C" "" "VUS" "" "0000006879" "20" "50" "X" "50346131" "50346131" "subst" "0" "00037" "SHROOM4_000015" "g.50346131C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.50603131C>T" "" "VUS" "" "0000006880" "20" "50" "X" "50351522" "50351522" "subst" "0" "00037" "SHROOM4_000019" "g.50351522T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.50608522T>C" "" "VUS" "" "0000006881" "20" "50" "X" "50379123" "50379123" "subst" "0" "00037" "SHROOM4_000025" "g.50379123T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.50636123T>C" "" "VUS" "" "0000008947" "20" "50" "X" "50336022" "50336022" "subst" "0" "00037" "SHROOM4_000017" "g.50336022A>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.50593022A>T" "" "VUS" "" "0000008948" "20" "50" "X" "50336536" "50336536" "dup" "0" "00037" "SHROOM4_000027" "g.50336536dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.50593536dup" "" "VUS" "" "0000008949" "20" "50" "X" "50341598" "50341598" "subst" "0" "00037" "SHROOM4_000029" "g.50341598G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.50598598G>A" "" "VUS" "" "0000008950" "20" "50" "X" "50341675" "50341675" "subst" "0" "00037" "SHROOM4_000012" "g.50341675G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.50598675G>C" "" "VUS" "" "0000010968" "20" "50" "X" "50336536" "50336536" "dup" "0" "00037" "SHROOM4_000021" "g.50336536dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.50593536dup" "" "VUS" "" "0000014844" "20" "50" "X" "50346131" "50346131" "subst" "0" "00037" "SHROOM4_000015" "g.50346131C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.50603131C>T" "" "VUS" "" "0000014845" "20" "50" "X" "50351522" "50351522" "subst" "0" "00037" "SHROOM4_000019" "g.50351522T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.50608522T>C" "" "VUS" "" "0000014846" "0" "50" "X" "50378792" "50378792" "subst" "0" "00037" "SHROOM4_000024" "g.50378792G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.50635792G>A" "" "VUS" "" "0000014847" "20" "50" "X" "50380717" "50380717" "subst" "0" "00037" "SHROOM4_000026" "g.50380717G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.50637717G>A" "" "VUS" "" "0000153893" "20" "30" "X" "50377758" "50377758" "subst" "0.000134481" "00006" "SHROOM4_000013" "g.50377758C>T" "" "{PMID:Harel 2016:26942288}, {DOI:Harel 2016:10.1016/j.ajhg.2016.01.011}" "" "" "" "Germline" "" "" "0" "" "" "g.50634758C>T" "" "likely benign" "" "0000256518" "0" "50" "X" "50557000" "50557000" "subst" "0" "01943" "SHROOM4_000066" "g.50557000A>C" "" "" "" "SHROOM4(NM_020717.3):c.19T>G (p.S7A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50814000A>C" "" "VUS" "" "0000298201" "0" "30" "X" "50377758" "50377758" "subst" "0.000134481" "02325" "SHROOM4_000013" "g.50377758C>T" "" "" "" "SHROOM4(NM_020717.5):c.1315G>A (p.V439I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50634758C>T" "" "likely benign" "" "0000298202" "0" "30" "X" "50377715" "50377715" "subst" "0" "02325" "SHROOM4_000057" "g.50377715C>T" "" "" "" "SHROOM4(NM_020717.5):c.1358G>A (p.S453N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50634715C>T" "" "likely benign" "" "0000298203" "0" "30" "X" "50376908" "50376908" "subst" "0.0016176" "02325" "SHROOM4_000052" "g.50376908C>T" "" "" "" "SHROOM4(NM_020717.3):c.2165G>A (p.R722H, p.(Arg722His)), SHROOM4(NM_020717.5):c.2165G>A (p.R722H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50633908C>T" "" "likely benign" "" "0000298204" "0" "30" "X" "50376881" "50376881" "subst" "0.00142974" "02325" "SHROOM4_000048" "g.50376881T>C" "" "" "" "SHROOM4(NM_020717.3):c.2192A>G (p.E731G), SHROOM4(NM_020717.4):c.2192A>G (p.(Glu731Gly)), SHROOM4(NM_020717.5):c.2192A>G (p.E731G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50633881T>C" "" "likely benign" "" "0000308096" "0" "30" "X" "50377505" "50377505" "subst" "2.8006E-5" "01943" "SHROOM4_000056" "g.50377505G>T" "" "" "" "SHROOM4(NM_020717.3):c.1568C>A (p.A523D, p.(Ala523Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50634505G>T" "" "likely benign" "" "0000308097" "0" "10" "X" "50377194" "50377194" "subst" "0.00146141" "01943" "SHROOM4_000055" "g.50377194G>A" "" "" "" "SHROOM4(NM_020717.3):c.1879C>T (p.P627S, p.(Pro627Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50634194G>A" "" "benign" "" "0000308098" "0" "10" "X" "50377101" "50377101" "subst" "0.00113157" "01943" "SHROOM4_000054" "g.50377101T>C" "" "" "" "SHROOM4(NM_020717.3):c.1972A>G (p.M658V, p.(Met658Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50634101T>C" "" "benign" "" "0000308099" "0" "50" "X" "50377066" "50377066" "subst" "0.000157093" "01943" "SHROOM4_000053" "g.50377066G>T" "" "" "" "SHROOM4(NM_020717.3):c.2007C>A (p.S669R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50634066G>T" "" "VUS" "" "0000308100" "0" "10" "X" "50376908" "50376908" "subst" "0.0016176" "01943" "SHROOM4_000052" "g.50376908C>T" "" "" "" "SHROOM4(NM_020717.3):c.2165G>A (p.R722H, p.(Arg722His)), SHROOM4(NM_020717.5):c.2165G>A (p.R722H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50633908C>T" "" "benign" "" "0000308101" "0" "10" "X" "50376900" "50376900" "subst" "0.000202095" "01943" "SHROOM4_000051" "g.50376900G>A" "" "" "" "SHROOM4(NM_020717.3):c.2173C>T (p.H725Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50633900G>A" "" "benign" "" "0000308102" "0" "50" "X" "50376892" "50376892" "subst" "0" "01943" "SHROOM4_000049" "g.50376892T>A" "" "" "" "SHROOM4(NM_020717.3):c.2181A>T (p.R727S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50633892T>A" "" "VUS" "" "0000308103" "0" "30" "X" "50376881" "50376881" "subst" "0.00142974" "01943" "SHROOM4_000048" "g.50376881T>C" "" "" "" "SHROOM4(NM_020717.3):c.2192A>G (p.E731G), SHROOM4(NM_020717.4):c.2192A>G (p.(Glu731Gly)), SHROOM4(NM_020717.5):c.2192A>G (p.E731G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50633881T>C" "" "likely benign" "" "0000308104" "0" "10" "X" "50438789" "50438789" "subst" "0.00207392" "01943" "SHROOM4_000065" "g.50438789C>T" "" "" "" "SHROOM4(NM_020717.3):c.266G>A (p.R89K, p.(Arg89Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50695789C>T" "" "benign" "" "0000308107" "0" "30" "X" "50350725" "50350725" "subst" "0" "01943" "SHROOM4_000038" "g.50350725T>C" "" "" "" "SHROOM4(NM_020717.3):c.3417A>G (p.E1139=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50607725T>C" "" "likely benign" "" "0000308108" "0" "30" "X" "50350638" "50350638" "subst" "0.000508839" "01943" "SHROOM4_000035" "g.50350638G>A" "" "" "" "SHROOM4(NM_020717.3):c.3504C>T (p.T1168=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50607638G>A" "" "likely benign" "" "0000308109" "0" "30" "X" "50345676" "50345676" "subst" "0.000240977" "01943" "SHROOM4_000033" "g.50345676C>T" "" "" "" "SHROOM4(NM_020717.3):c.3899G>A (p.G1300D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50602676C>T" "" "likely benign" "" "0000308110" "0" "50" "X" "50345656" "50345656" "subst" "3.36562E-5" "01943" "SHROOM4_000032" "g.50345656C>T" "" "" "" "SHROOM4(NM_020717.3):c.3919G>A (p.D1307N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50602656C>T" "" "VUS" "" "0000308111" "0" "30" "X" "50381165" "50381165" "subst" "0" "01943" "SHROOM4_000064" "g.50381165T>C" "" "" "" "SHROOM4(NM_020717.3):c.404+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50638165T>C" "" "likely benign" "" "0000308112" "0" "10" "X" "50341412" "50341412" "subst" "0.00318802" "01943" "SHROOM4_000031" "g.50341412C>T" "" "" "" "SHROOM4(NM_020717.3):c.4066G>A (p.V1356I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50598412C>T" "" "benign" "" "0000308113" "0" "30" "X" "50378637" "50378637" "subst" "0.000675067" "01943" "SHROOM4_000062" "g.50378637G>A" "" "" "" "SHROOM4(NM_020717.3):c.436C>T (p.R146W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50635637G>A" "" "likely benign" "" "0000308114" "0" "50" "X" "50378622" "50378622" "subst" "3.37372E-5" "01943" "SHROOM4_000061" "g.50378622C>T" "" "" "" "SHROOM4(NM_020717.3):c.451G>A (p.E151K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50635622C>T" "" "VUS" "" "0000308115" "0" "30" "X" "50378384" "50378384" "subst" "0.000798916" "01943" "SHROOM4_000060" "g.50378384C>T" "" "" "" "SHROOM4(NM_020717.3):c.689G>A (p.R230Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50635384C>T" "" "likely benign" "" "0000308116" "0" "30" "X" "50378342" "50378342" "subst" "0.000283166" "01943" "SHROOM4_000059" "g.50378342T>C" "" "" "" "SHROOM4(NM_020717.3):c.731A>G (p.N244S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50635342T>C" "" "likely benign" "" "0000334155" "0" "10" "X" "50341377" "50341377" "subst" "0.0139676" "01804" "SHROOM4_000030" "g.50341377C>A" "" "" "" "SHROOM4(NM_020717.3):c.4101G>T (p.L1367F, p.(Leu1367Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50598377C>A" "" "benign" "" "0000334156" "0" "30" "X" "50350531" "50350531" "subst" "0.0025062" "01804" "SHROOM4_000034" "g.50350531T>C" "" "" "" "SHROOM4(NM_020717.3):c.3611A>G (p.E1204G, p.(Glu1204Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50607531T>C" "" "likely benign" "" "0000334157" "0" "50" "X" "50350728" "50350730" "del" "0" "01804" "SHROOM4_000037" "g.50350728_50350730del" "" "" "" "SHROOM4(NM_020717.3):c.3426_3428del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50607728_50607730del" "" "VUS" "" "0000334159" "0" "50" "X" "50350727" "50350728" "ins" "0" "01804" "SHROOM4_000040" "g.50350727_50350728insCTC" "" "" "" "SHROOM4(NM_020717.3):c.3416_3417insGGA (p.(Glu1139dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50607727_50607728insCTC" "" "VUS" "" "0000334161" "0" "30" "X" "50350727" "50350727" "dup" "0" "01804" "SHROOM4_000041" "g.50350727dup" "" "" "" "SHROOM4(NM_020717.3):c.3415dup (p.(Glu1139Glyfs*39)), SHROOM4(NM_020717.3):c.3415dupG (p.E1139Gfs*39)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50607727dup" "" "likely benign" "" "0000334170" "0" "30" "X" "50376893" "50376893" "subst" "0" "01804" "SHROOM4_000050" "g.50376893C>T" "" "" "" "SHROOM4(NM_020717.3):c.2180G>A (p.(Arg727Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50633893C>T" "" "likely benign" "" "0000334171" "0" "50" "X" "50376908" "50376908" "subst" "0.0016176" "01804" "SHROOM4_000052" "g.50376908C>T" "" "" "" "SHROOM4(NM_020717.3):c.2165G>A (p.R722H, p.(Arg722His)), SHROOM4(NM_020717.5):c.2165G>A (p.R722H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50633908C>T" "" "VUS" "" "0000334172" "0" "50" "X" "50378020" "50378020" "subst" "0.000258185" "01804" "SHROOM4_000058" "g.50378020G>T" "" "" "" "SHROOM4(NM_020717.3):c.1053C>A (p.S351R, p.(Ser351Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50635020G>T" "" "VUS" "" "0000334175" "0" "30" "X" "50438789" "50438789" "subst" "0.00207392" "01804" "SHROOM4_000065" "g.50438789C>T" "" "" "" "SHROOM4(NM_020717.3):c.266G>A (p.R89K, p.(Arg89Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50695789C>T" "" "likely benign" "" "0000343598" "0" "30" "X" "50341348" "50341348" "subst" "0" "02327" "SHROOM4_000067" "g.50341348T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50598348T>G" "" "likely benign" "" "0000349205" "0" "30" "X" "50376360" "50376360" "subst" "0" "02327" "SHROOM4_000068" "g.50376360A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50633360A>G" "" "likely benign" "" "0000393975" "1" "50" "X" "50377938" "50377938" "subst" "8.61811E-5" "00124" "SHROOM4_000074" "g.50377938C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.50634938C>T" "" "VUS" "" "0000393976" "1" "50" "X" "50377194" "50377194" "subst" "0.00146141" "00124" "SHROOM4_000055" "g.50377194G>A" "3/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "recurrent, found 3 times" "Germline" "" "" "0" "" "" "g.50634194G>A" "" "VUS" "" "0000393977" "1" "50" "X" "50376404" "50376404" "subst" "5.59823E-6" "00124" "SHROOM4_000073" "g.50376404C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.50633404C>T" "" "VUS" "" "0000393978" "1" "50" "X" "50438789" "50438789" "subst" "0.00207392" "00124" "SHROOM4_000065" "g.50438789C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.50695789C>T" "" "VUS" "" "0000393979" "1" "50" "X" "50381284" "50381284" "subst" "1.69272E-5" "00124" "SHROOM4_000076" "g.50381284C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "P98P" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.50638284C>T" "" "VUS" "" "0000393980" "1" "50" "X" "50350974" "50350974" "subst" "0.0118569" "00124" "SHROOM4_000072" "g.50350974A>G" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "R1056R" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.50607974A>G" "" "VUS" "" "0000393981" "1" "50" "X" "50350758" "50350769" "dup" "0" "00124" "SHROOM4_000069" "g.50350758_50350769dup" "3/208 cases" "{PMID:Tarpey 2009:19377476}" "" "3383_3383dup" "recurrent, found 3 times" "Germline" "" "" "0" "" "" "g.50607758_50607769dup" "" "VUS" "" "0000393982" "1" "50" "X" "50350674" "50350674" "subst" "0" "00124" "SHROOM4_000071" "g.50350674T>C" "51/208 cases" "{PMID:Tarpey 2009:19377476}" "" "E1156E" "recurrent, found 51 times" "Germline" "" "" "0" "" "" "g.50607674T>C" "" "VUS" "" "0000393983" "1" "50" "X" "50341490" "50341490" "subst" "0" "00124" "SHROOM4_000070" "g.50341490C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.50598490C>T" "" "VUS" "" "0000393984" "1" "50" "X" "50341377" "50341377" "subst" "0.0139676" "00124" "SHROOM4_000030" "g.50341377C>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.50598377C>A" "" "VUS" "" "0000393985" "1" "50" "X" "50378623" "50378623" "subst" "7.30789E-5" "00124" "SHROOM4_000075" "g.50378623G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "T150T" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.50635623G>A" "" "VUS" "" "0000576470" "0" "30" "X" "50339899" "50339899" "subst" "1.13682E-5" "01943" "SHROOM4_000077" "g.50339899C>T" "" "" "" "SHROOM4(NM_020717.3):c.4278G>A (p.E1426=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50596899C>T" "" "likely benign" "" "0000576471" "0" "10" "X" "50341377" "50341377" "subst" "0.0139676" "01943" "SHROOM4_000030" "g.50341377C>A" "" "" "" "SHROOM4(NM_020717.3):c.4101G>T (p.L1367F, p.(Leu1367Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50598377C>A" "" "benign" "" "0000576472" "0" "30" "X" "50341534" "50341534" "subst" "0.000453335" "01943" "SHROOM4_000078" "g.50341534A>G" "" "" "" "SHROOM4(NM_020717.3):c.3944T>C (p.I1315T, p.(Ile1315Thr)), SHROOM4(NM_020717.5):c.3944T>C (p.I1315T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50598534A>G" "" "likely benign" "" "0000576473" "0" "30" "X" "50341534" "50341534" "subst" "0.000453335" "01804" "SHROOM4_000078" "g.50341534A>G" "" "" "" "SHROOM4(NM_020717.3):c.3944T>C (p.I1315T, p.(Ile1315Thr)), SHROOM4(NM_020717.5):c.3944T>C (p.I1315T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50598534A>G" "" "likely benign" "" "0000576474" "0" "30" "X" "50341534" "50341534" "subst" "0.000453335" "02325" "SHROOM4_000078" "g.50341534A>G" "" "" "" "SHROOM4(NM_020717.3):c.3944T>C (p.I1315T, p.(Ile1315Thr)), SHROOM4(NM_020717.5):c.3944T>C (p.I1315T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50598534A>G" "" "likely benign" "" "0000576475" "0" "30" "X" "50350408" "50350408" "subst" "0.0187963" "01804" "SHROOM4_000079" "g.50350408G>A" "" "" "" "SHROOM4(NM_020717.3):c.3734C>T (p.(Ser1245Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50607408G>A" "" "likely benign" "" "0000576478" "0" "10" "X" "50350727" "50350727" "dup" "0" "01943" "SHROOM4_000041" "g.50350727dup" "" "" "" "SHROOM4(NM_020717.3):c.3415dup (p.(Glu1139Glyfs*39)), SHROOM4(NM_020717.3):c.3415dupG (p.E1139Gfs*39)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50607727dup" "" "benign" "" "0000576480" "0" "10" "X" "50350728" "50350729" "ins" "0" "01943" "SHROOM4_000081" "g.50350728_50350729insCC" "" "" "" "SHROOM4(NM_020717.3):c.3413_3414insGG (p.E1140Kfs*42), SHROOM4(NM_020717.4):c.3413_3414insGG (p.(Glu1140LysfsTer42))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50607728_50607729insCC" "" "benign" "" "0000576483" "0" "30" "X" "50350775" "50350775" "subst" "0" "01943" "SHROOM4_000084" "g.50350775G>C" "" "" "" "SHROOM4(NM_020717.3):c.3367C>G (p.Q1123E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50607775G>C" "" "likely benign" "" "0000576484" "0" "30" "X" "50351038" "50351038" "subst" "0.000118206" "01943" "SHROOM4_000085" "g.50351038T>G" "" "" "" "SHROOM4(NM_020717.3):c.3104A>C (p.E1035A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50608038T>G" "" "likely benign" "" "0000576485" "0" "30" "X" "50351159" "50351159" "subst" "0" "01804" "SHROOM4_000086" "g.50351159A>C" "" "" "" "SHROOM4(NM_020717.3):c.2983T>G (p.(Phe995Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50608159A>C" "" "likely benign" "" "0000576486" "0" "30" "X" "50376576" "50376576" "subst" "0.00467569" "01804" "SHROOM4_000087" "g.50376576C>T" "" "" "" "SHROOM4(NM_020717.4):c.2497G>A (p.(Ala833Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50633576C>T" "" "likely benign" "" "0000576487" "0" "30" "X" "50376654" "50376654" "subst" "1.67827E-5" "01804" "SHROOM4_000088" "g.50376654T>C" "" "" "" "SHROOM4(NM_020717.3):c.2419A>G (p.(Ile807Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50633654T>C" "" "likely benign" "" "0000576488" "0" "30" "X" "50376734" "50376734" "subst" "6.15636E-5" "01943" "SHROOM4_000047" "g.50376734C>T" "" "" "" "SHROOM4(NM_020717.3):c.2339G>A (p.S780N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50633734C>T" "" "likely benign" "" "0000576489" "0" "30" "X" "50377101" "50377101" "subst" "0.00113157" "01804" "SHROOM4_000054" "g.50377101T>C" "" "" "" "SHROOM4(NM_020717.3):c.1972A>G (p.M658V, p.(Met658Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50634101T>C" "" "likely benign" "" "0000576490" "0" "30" "X" "50377194" "50377194" "subst" "0.00146141" "01804" "SHROOM4_000055" "g.50377194G>A" "" "" "" "SHROOM4(NM_020717.3):c.1879C>T (p.P627S, p.(Pro627Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50634194G>A" "" "likely benign" "" "0000576491" "0" "30" "X" "50377446" "50377446" "subst" "0.00483459" "01804" "SHROOM4_000089" "g.50377446T>A" "" "" "" "SHROOM4(NM_020717.3):c.1627A>T (p.(Thr543Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50634446T>A" "" "likely benign" "" "0000576492" "0" "30" "X" "50377785" "50377785" "subst" "0.00449292" "01804" "SHROOM4_000090" "g.50377785C>A" "" "" "" "SHROOM4(NM_020717.4):c.1288G>T (p.(Gly430Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50634785C>A" "" "likely benign" "" "0000576494" "0" "30" "X" "50378005" "50378005" "subst" "0.000230147" "01943" "SHROOM4_000092" "g.50378005C>A" "" "" "" "SHROOM4(NM_020717.3):c.1068G>T (p.E356D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50635005C>A" "" "likely benign" "" "0000576495" "0" "30" "X" "50378020" "50378020" "subst" "0.000258185" "01943" "SHROOM4_000058" "g.50378020G>T" "" "" "" "SHROOM4(NM_020717.3):c.1053C>A (p.S351R, p.(Ser351Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50635020G>T" "" "likely benign" "" "0000576496" "0" "30" "X" "50378234" "50378234" "subst" "0.000620055" "01804" "SHROOM4_000093" "g.50378234C>T" "" "" "" "SHROOM4(NM_020717.3):c.839G>A (p.(Arg280Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50635234C>T" "" "likely benign" "" "0000576497" "0" "50" "X" "50378443" "50378443" "subst" "0" "02325" "SHROOM4_000094" "g.50378443C>A" "" "" "" "SHROOM4(NM_020717.5):c.630G>T (p.E210D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50635443C>A" "" "VUS" "" "0000576498" "0" "30" "X" "50378570" "50378570" "subst" "0.000112757" "01943" "SHROOM4_000095" "g.50378570G>A" "" "" "" "SHROOM4(NM_020717.3):c.503C>T (p.A168V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50635570G>A" "" "likely benign" "" "0000576499" "0" "30" "X" "50378634" "50378634" "subst" "0.00482861" "01804" "SHROOM4_000096" "g.50378634G>A" "" "" "" "SHROOM4(NM_020717.3):c.439C>T (p.(His147Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50635634G>A" "" "likely benign" "" "0000619673" "0" "30" "X" "50350727" "50350727" "dup" "0" "02327" "SHROOM4_000041" "g.50350727dup" "" "" "" "SHROOM4(NM_020717.3):c.3415dup (p.(Glu1139Glyfs*39)), SHROOM4(NM_020717.3):c.3415dupG (p.E1139Gfs*39)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50607727dup" "" "likely benign" "" "0000619674" "0" "30" "X" "50350902" "50350902" "subst" "6.80778E-5" "01943" "SHROOM4_000098" "g.50350902G>T" "" "" "" "SHROOM4(NM_020717.3):c.3240C>A (p.L1080=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50607902G>T" "" "likely benign" "" "0000619675" "0" "30" "X" "50351001" "50351001" "subst" "0" "01943" "SHROOM4_000099" "g.50351001G>A" "" "" "" "SHROOM4(NM_020717.3):c.3141C>T (p.A1047=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50608001G>A" "" "likely benign" "" "0000619676" "0" "30" "X" "50376807" "50376807" "subst" "5.59726E-6" "01804" "SHROOM4_000100" "g.50376807C>T" "" "" "" "SHROOM4(NM_020717.3):c.2266G>A (p.(Ala756Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50633807C>T" "" "likely benign" "" "0000619677" "0" "30" "X" "50377398" "50377398" "subst" "0.000306465" "01943" "SHROOM4_000102" "g.50377398C>T" "" "" "" "SHROOM4(NM_020717.3):c.1675G>A (p.E559K), SHROOM4(NM_020717.5):c.1675G>A (p.E559K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50634398C>T" "" "likely benign" "" "0000619678" "0" "30" "X" "50377532" "50377532" "subst" "0.000246376" "01943" "SHROOM4_000103" "g.50377532C>A" "" "" "" "SHROOM4(NM_020717.3):c.1541G>T (p.R514I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50634532C>A" "" "likely benign" "" "0000624651" "0" "30" "X" "50376845" "50376845" "subst" "0" "01943" "SHROOM4_000101" "g.50376845T>G" "" "" "" "SHROOM4(NM_020717.3):c.2228A>C (p.E743A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50633845T>G" "" "likely benign" "" "0000624652" "0" "30" "X" "50377686" "50377686" "subst" "0.000481906" "01943" "SHROOM4_000104" "g.50377686G>T" "" "" "" "SHROOM4(NM_020717.3):c.1387C>A (p.P463T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50634686G>T" "" "likely benign" "" "0000624653" "0" "50" "X" "50377844" "50377844" "subst" "0" "01943" "SHROOM4_000105" "g.50377844T>C" "" "" "" "SHROOM4(NM_020717.3):c.1229A>G (p.H410R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50634844T>C" "" "VUS" "" "0000624654" "0" "30" "X" "50378636" "50378636" "subst" "0.000236178" "01943" "SHROOM4_000106" "g.50378636C>T" "" "" "" "SHROOM4(NM_020717.3):c.437G>A (p.R146Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50635636C>T" "" "likely benign" "" "0000652932" "1" "10" "X" "50341377" "50341377" "subst" "0.0139676" "03575" "SHROOM4_000030" "g.50341377C>A" "12/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "12 heterozygous; {DB:CLININrs28362302}" "Germline" "" "rs28362302" "0" "" "" "g.50598377C>A" "" "benign" "" "0000659374" "0" "30" "X" "50376657" "50376657" "subst" "0.000559428" "01943" "SHROOM4_000046" "g.50376657G>A" "" "" "" "SHROOM4(NM_020717.3):c.2416C>T (p.P806S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50633657G>A" "" "likely benign" "" "0000660608" "21" "70" "X" "50345803" "50345803" "subst" "0" "00006" "SHROOM4_000108" "g.50345803G>A" "" "{PMID:Redin 2014:25167861}" "" "" "variant in 2 unaffected brothers" "Germline" "no" "" "0" "" "" "g.50602803G>A" "" "likely benign" "" "0000670130" "0" "10" "X" "50341377" "50341377" "subst" "0.0139676" "03575" "SHROOM4_000030" "g.50341377C>A" "6/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 homozygous; {DB:CLININrs28362302}" "Germline" "" "rs28362302" "0" "" "" "g.50598377C>A" "" "benign" "" "0000682494" "0" "30" "X" "50350531" "50350531" "subst" "0.0025062" "01943" "SHROOM4_000034" "g.50350531T>C" "" "" "" "SHROOM4(NM_020717.3):c.3611A>G (p.E1204G, p.(Glu1204Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682495" "0" "30" "X" "50370640" "50370640" "subst" "0" "01943" "SHROOM4_000109" "g.50370640T>C" "" "" "" "SHROOM4(NM_020717.3):c.2931A>G (p.G977=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682496" "0" "30" "X" "50378348" "50378348" "subst" "7.09645E-5" "01943" "SHROOM4_000110" "g.50378348C>T" "" "" "" "SHROOM4(NM_020717.3):c.725G>A (p.R242H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693649" "0" "50" "X" "50339705" "50339705" "subst" "0" "02325" "SHROOM4_000112" "g.50339705C>A" "" "" "" "SHROOM4(NM_020717.5):c.4472G>T (p.S1491I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693650" "0" "10" "X" "50350748" "50350750" "del" "0" "02325" "SHROOM4_000113" "g.50350748_50350750del" "" "" "" "SHROOM4(NM_020717.5):c.3411_3413delGGA (p.E1151del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000729009" "0" "50" "X" "50339825" "50339825" "subst" "1.12571E-5" "01943" "SHROOM4_000114" "g.50339825T>C" "" "" "" "SHROOM4(NM_020717.3):c.4352A>G (p.Y1451C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729010" "0" "50" "X" "50376593" "50376593" "subst" "6.71107E-5" "02325" "SHROOM4_000115" "g.50376593T>C" "" "" "" "SHROOM4(NM_020717.5):c.2480A>G (p.D827G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000789678" "0" "70" "X" "50378669" "50378669" "subst" "0" "01164" "SHROOM4_000116" "g.50378669C>T" "" "" "" "" "ACMG: PVS1, PM2_SUP; variant confirmed de novo in trio-exome, variant allele frequency in male fetus 39%, mosaic constellation in fetus" "De novo" "?" "" "" "" "" "" "" "likely pathogenic" "ACMG" "0000810491" "0" "30" "X" "50350728" "50350730" "dup" "0" "01943" "SHROOM4_000117" "g.50350728_50350730dup" "" "" "" "SHROOM4(NM_020717.3):c.3426_3428dupAGA (p.E1151dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810492" "0" "30" "X" "50376252" "50376252" "subst" "0.000512168" "01943" "SHROOM4_000118" "g.50376252G>A" "" "" "" "SHROOM4(NM_020717.3):c.2821C>T (p.P941S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810493" "0" "30" "X" "50377398" "50377398" "subst" "0.000306465" "02325" "SHROOM4_000102" "g.50377398C>T" "" "" "" "SHROOM4(NM_020717.3):c.1675G>A (p.E559K), SHROOM4(NM_020717.5):c.1675G>A (p.E559K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810494" "0" "50" "X" "50377847" "50377847" "subst" "4.17624E-5" "01943" "SHROOM4_000119" "g.50377847C>T" "" "" "" "SHROOM4(NM_020717.3):c.1226G>A (p.R409H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810495" "0" "30" "X" "50378623" "50378623" "subst" "7.30789E-5" "01943" "SHROOM4_000075" "g.50378623G>A" "" "" "" "SHROOM4(NM_020717.3):c.450C>T (p.T150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856684" "0" "30" "X" "50370667" "50370667" "subst" "5.60881E-6" "01943" "SHROOM4_000122" "g.50370667A>C" "" "" "" "SHROOM4(NM_020717.3):c.2904T>G (p.P968=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856685" "0" "50" "X" "50376788" "50376788" "subst" "0" "01943" "SHROOM4_000123" "g.50376788C>G" "" "" "" "SHROOM4(NM_020717.3):c.2285G>C (p.G762A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867443" "0" "30" "X" "50350515" "50350515" "subst" "2.23746E-5" "01943" "SHROOM4_000120" "g.50350515T>C" "" "" "" "SHROOM4(NM_020717.3):c.3627A>G (p.A1209=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867444" "0" "30" "X" "50351163" "50351163" "subst" "0" "01943" "SHROOM4_000121" "g.50351163A>G" "" "" "" "SHROOM4(NM_020717.3):c.2979T>C (p.T993=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867445" "0" "50" "X" "50377313" "50377313" "subst" "0" "01804" "SHROOM4_000124" "g.50377313C>T" "" "" "" "SHROOM4(NM_020717.3):c.1760G>A (p.(Arg587His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000896288" "0" "50" "X" "50350713" "50350718" "del" "0" "01943" "SHROOM4_000125" "g.50350713_50350718del" "" "" "" "SHROOM4(NM_020717.3):c.3438_3443delAGAGGA (p.E1150_E1151del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000904836" "20" "70" "X" "50345656" "50345656" "subst" "3.36562E-5" "00006" "SHROOM4_000032" "g.50345656C>T" "" "{PMID:Al-Kasbi 2022:36344539}" "" "" "" "Germline" "" "rs138240622" "0" "" "" "g.50602656C>T" "" "VUS" "" "0000931435" "0" "50" "X" "50378237" "50378237" "subst" "0" "02325" "SHROOM4_000126" "g.50378237C>A" "" "" "" "SHROOM4(NM_020717.5):c.836G>T (p.R279M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984734" "0" "30" "X" "50350728" "50350729" "ins" "0" "01804" "SHROOM4_000081" "g.50350728_50350729insCC" "" "" "" "SHROOM4(NM_020717.3):c.3413_3414insGG (p.E1140Kfs*42), SHROOM4(NM_020717.4):c.3413_3414insGG (p.(Glu1140LysfsTer42))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006838" "0" "50" "X" "50350835" "50350835" "subst" "0" "01804" "SHROOM4_000127" "g.50350835G>A" "" "" "" "SHROOM4(NM_020717.3):c.3307C>T (p.(Arg1103Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006839" "0" "30" "X" "50377077" "50377077" "subst" "5.61E-6" "01804" "SHROOM4_000128" "g.50377077C>T" "" "" "" "SHROOM4(NM_020717.3):c.1996G>A (p.(Glu666Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006840" "0" "30" "X" "50377505" "50377505" "subst" "2.8006E-5" "01804" "SHROOM4_000056" "g.50377505G>T" "" "" "" "SHROOM4(NM_020717.3):c.1568C>A (p.A523D, p.(Ala523Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006841" "0" "50" "X" "50377797" "50377797" "subst" "0" "01804" "SHROOM4_000129" "g.50377797G>C" "" "" "" "SHROOM4(NM_020717.3):c.1276C>G (p.(Leu426Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044388" "0" "50" "X" "50376445" "50376445" "del" "0" "01804" "SHROOM4_000130" "g.50376445del" "" "" "" "SHROOM4(NM_020717.4):c.2628del (p.(Cys877Valfs*20))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044389" "0" "30" "X" "50376881" "50376881" "subst" "0.00142974" "01804" "SHROOM4_000048" "g.50376881T>C" "" "" "" "SHROOM4(NM_020717.3):c.2192A>G (p.E731G), SHROOM4(NM_020717.4):c.2192A>G (p.(Glu731Gly)), SHROOM4(NM_020717.5):c.2192A>G (p.E731G)" "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 SHROOM4 ## Count = 131 "{{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}}" "0000001938" "00000455" "50" "7647" "0" "7647" "0" "c.*3165dup" "r.(=)" "p.(=)" "" "0000002971" "00000455" "50" "7647" "0" "7647" "0" "c.*3165dup" "r.(=)" "p.(=)" "" "0000002972" "00000455" "50" "405" "-112" "405" "-112" "c.405-112del" "r.(=)" "p.(=)" "3i" "0000006876" "00000455" "50" "8155" "0" "8155" "0" "c.*3673T>A" "r.(=)" "p.(=)" "" "0000006877" "00000455" "50" "3943" "-63" "3943" "-63" "c.3943-63C>T" "r.(=)" "p.(=)" "" "0000006878" "00000455" "50" "3943" "-140" "3943" "-140" "c.3943-140C>G" "r.(=)" "p.(=)" "" "0000006879" "00000455" "50" "3762" "-318" "3762" "-318" "c.3762-318G>A" "r.(=)" "p.(=)" "" "0000006880" "00000455" "50" "2958" "-338" "2958" "-338" "c.2958-338A>G" "r.(=)" "p.(=)" "" "0000006881" "00000455" "50" "405" "-455" "405" "-455" "c.405-455A>G" "r.(=)" "p.(=)" "3i" "0000008947" "00000455" "50" "8155" "0" "8155" "0" "c.*3673T>A" "r.(=)" "p.(=)" "" "0000008948" "00000455" "50" "7647" "0" "7647" "0" "c.*3165dup" "r.(=)" "p.(=)" "" "0000008949" "00000455" "50" "3943" "-63" "3943" "-63" "c.3943-63C>T" "r.(=)" "p.(=)" "" "0000008950" "00000455" "50" "3943" "-140" "3943" "-140" "c.3943-140C>G" "r.(=)" "p.(=)" "" "0000010968" "00000455" "50" "7647" "0" "7647" "0" "c.*3165dup" "r.(=)" "p.(=)" "" "0000014844" "00000455" "50" "3762" "-318" "3762" "-318" "c.3762-318G>A" "r.(=)" "p.(=)" "" "0000014845" "00000455" "50" "2958" "-338" "2958" "-338" "c.2958-338A>G" "r.(=)" "p.(=)" "" "0000014846" "00000455" "50" "405" "-124" "405" "-124" "c.405-124C>T" "r.(=)" "p.(=)" "3i" "0000014847" "00000455" "50" "404" "457" "404" "457" "c.404+457C>T" "r.(=)" "p.(=)" "3i" "0000153893" "00000455" "30" "1315" "0" "1315" "0" "c.1315G>A" "r.(?)" "p.(Val439Ile)" "4" "0000256518" "00000455" "50" "19" "0" "19" "0" "c.19T>G" "r.(?)" "p.(Ser7Ala)" "" "0000298201" "00000455" "30" "1315" "0" "1315" "0" "c.1315G>A" "r.(?)" "p.(Val439Ile)" "" "0000298202" "00000455" "30" "1358" "0" "1358" "0" "c.1358G>A" "r.(?)" "p.(Ser453Asn)" "" "0000298203" "00000455" "30" "2165" "0" "2165" "0" "c.2165G>A" "r.(?)" "p.(Arg722His)" "" "0000298204" "00000455" "30" "2192" "0" "2192" "0" "c.2192A>G" "r.(?)" "p.(Glu731Gly)" "" "0000308096" "00000455" "30" "1568" "0" "1568" "0" "c.1568C>A" "r.(?)" "p.(Ala523Asp)" "" "0000308097" "00000455" "10" "1879" "0" "1879" "0" "c.1879C>T" "r.(?)" "p.(Pro627Ser)" "" "0000308098" "00000455" "10" "1972" "0" "1972" "0" "c.1972A>G" "r.(?)" "p.(Met658Val)" "" "0000308099" "00000455" "50" "2007" "0" "2007" "0" "c.2007C>A" "r.(?)" "p.(Ser669Arg)" "" "0000308100" "00000455" "10" "2165" "0" "2165" "0" "c.2165G>A" "r.(?)" "p.(Arg722His)" "" "0000308101" "00000455" "10" "2173" "0" "2173" "0" "c.2173C>T" "r.(?)" "p.(His725Tyr)" "" "0000308102" "00000455" "50" "2181" "0" "2181" "0" "c.2181A>T" "r.(?)" "p.(Arg727Ser)" "" "0000308103" "00000455" "30" "2192" "0" "2192" "0" "c.2192A>G" "r.(?)" "p.(Glu731Gly)" "" "0000308104" "00000455" "10" "266" "0" "266" "0" "c.266G>A" "r.(?)" "p.(Arg89Lys)" "" "0000308107" "00000455" "30" "3417" "0" "3417" "0" "c.3417A>G" "r.(?)" "p.(Glu1139=)" "" "0000308108" "00000455" "30" "3504" "0" "3504" "0" "c.3504C>T" "r.(?)" "p.(Thr1168=)" "" "0000308109" "00000455" "30" "3899" "0" "3899" "0" "c.3899G>A" "r.(?)" "p.(Gly1300Asp)" "" "0000308110" "00000455" "50" "3919" "0" "3919" "0" "c.3919G>A" "r.(?)" "p.(Asp1307Asn)" "" "0000308111" "00000455" "30" "404" "9" "404" "9" "c.404+9A>G" "r.(=)" "p.(=)" "" "0000308112" "00000455" "10" "4066" "0" "4066" "0" "c.4066G>A" "r.(?)" "p.(Val1356Ile)" "" "0000308113" "00000455" "30" "436" "0" "436" "0" "c.436C>T" "r.(?)" "p.(Arg146Trp)" "" "0000308114" "00000455" "50" "451" "0" "451" "0" "c.451G>A" "r.(?)" "p.(Glu151Lys)" "" "0000308115" "00000455" "30" "689" "0" "689" "0" "c.689G>A" "r.(?)" "p.(Arg230Gln)" "" "0000308116" "00000455" "30" "731" "0" "731" "0" "c.731A>G" "r.(?)" "p.(Asn244Ser)" "" "0000334155" "00000455" "10" "4101" "0" "4101" "0" "c.4101G>T" "r.(?)" "p.(Leu1367Phe)" "" "0000334156" "00000455" "30" "3611" "0" "3611" "0" "c.3611A>G" "r.(?)" "p.(Glu1204Gly)" "" "0000334157" "00000455" "50" "3426" "0" "3428" "0" "c.3426_3428del" "r.(?)" "p.(Glu1151del)" "" "0000334159" "00000455" "50" "3416" "0" "3417" "0" "c.3416_3417insGGA" "r.(?)" "p.(Glu1151dup)" "" "0000334161" "00000455" "30" "3415" "0" "3415" "0" "c.3415dup" "r.(?)" "p.(Glu1139GlyfsTer39)" "" "0000334170" "00000455" "30" "2180" "0" "2180" "0" "c.2180G>A" "r.(?)" "p.(Arg727Lys)" "" "0000334171" "00000455" "50" "2165" "0" "2165" "0" "c.2165G>A" "r.(?)" "p.(Arg722His)" "" "0000334172" "00000455" "50" "1053" "0" "1053" "0" "c.1053C>A" "r.(?)" "p.(Ser351Arg)" "" "0000334175" "00000455" "30" "266" "0" "266" "0" "c.266G>A" "r.(?)" "p.(Arg89Lys)" "" "0000343598" "00000455" "30" "4130" "0" "4130" "0" "c.4130A>C" "r.(?)" "p.(Asn1377Thr)" "" "0000349205" "00000455" "30" "2713" "0" "2713" "0" "c.2713T>C" "r.(?)" "p.(Ser905Pro)" "" "0000393975" "00000455" "50" "1135" "0" "1135" "0" "c.1135G>A" "r.(?)" "p.(Val379Met)" "" "0000393976" "00000455" "50" "1879" "0" "1879" "0" "c.1879C>T" "r.(?)" "p.(Pro627Ser)" "" "0000393977" "00000455" "50" "2669" "0" "2669" "0" "c.2669G>A" "r.(?)" "p.(Cys890Tyr)" "" "0000393978" "00000455" "50" "266" "0" "266" "0" "c.266G>A" "r.(?)" "p.(Arg89Lys)" "" "0000393979" "00000455" "50" "294" "0" "294" "0" "c.294G>A" "r.(=)" "p.(=)" "" "0000393980" "00000455" "50" "3168" "0" "3168" "0" "c.3168T>C" "r.(=)" "p.(=)" "" "0000393981" "00000455" "50" "3373" "0" "3384" "0" "c.3373_3384dup" "r.(?)" "p.(Gln1125_Gln1128dup)" "6" "0000393982" "00000455" "50" "3468" "0" "3468" "0" "c.3468A>G" "r.(=)" "p.(=)" "" "0000393983" "00000455" "50" "3988" "0" "3988" "0" "c.3988G>A" "r.(?)" "p.(Glu1330Lys)" "" "0000393984" "00000455" "50" "4101" "0" "4101" "0" "c.4101G>T" "r.(?)" "p.(Leu1367Phe)" "" "0000393985" "00000455" "50" "450" "0" "450" "0" "c.450C>T" "r.(=)" "p.(=)" "" "0000576470" "00000455" "30" "4278" "0" "4278" "0" "c.4278G>A" "r.(?)" "p.(Glu1426=)" "" "0000576471" "00000455" "10" "4101" "0" "4101" "0" "c.4101G>T" "r.(?)" "p.(Leu1367Phe)" "" "0000576472" "00000455" "30" "3944" "0" "3944" "0" "c.3944T>C" "r.(?)" "p.(Ile1315Thr)" "" "0000576473" "00000455" "30" "3944" "0" "3944" "0" "c.3944T>C" "r.(?)" "p.(Ile1315Thr)" "" "0000576474" "00000455" "30" "3944" "0" "3944" "0" "c.3944T>C" "r.(?)" "p.(Ile1315Thr)" "" "0000576475" "00000455" "30" "3734" "0" "3734" "0" "c.3734C>T" "r.(?)" "p.(Ser1245Leu)" "" "0000576478" "00000455" "10" "3415" "0" "3415" "0" "c.3415dup" "r.(?)" "p.(Glu1139GlyfsTer39)" "" "0000576480" "00000455" "10" "3413" "0" "3414" "0" "c.3413_3414insGG" "r.(?)" "p.(Glu1140LysfsTer42)" "" "0000576483" "00000455" "30" "3367" "0" "3367" "0" "c.3367C>G" "r.(?)" "p.(Gln1123Glu)" "" "0000576484" "00000455" "30" "3104" "0" "3104" "0" "c.3104A>C" "r.(?)" "p.(Glu1035Ala)" "" "0000576485" "00000455" "30" "2983" "0" "2983" "0" "c.2983T>G" "r.(?)" "p.(Phe995Val)" "" "0000576486" "00000455" "30" "2497" "0" "2497" "0" "c.2497G>A" "r.(?)" "p.(Ala833Thr)" "" "0000576487" "00000455" "30" "2419" "0" "2419" "0" "c.2419A>G" "r.(?)" "p.(Ile807Val)" "" "0000576488" "00000455" "30" "2339" "0" "2339" "0" "c.2339G>A" "r.(?)" "p.(Ser780Asn)" "" "0000576489" "00000455" "30" "1972" "0" "1972" "0" "c.1972A>G" "r.(?)" "p.(Met658Val)" "" "0000576490" "00000455" "30" "1879" "0" "1879" "0" "c.1879C>T" "r.(?)" "p.(Pro627Ser)" "" "0000576491" "00000455" "30" "1627" "0" "1627" "0" "c.1627A>T" "r.(?)" "p.(Thr543Ser)" "" "0000576492" "00000455" "30" "1288" "0" "1288" "0" "c.1288G>T" "r.(?)" "p.(Gly430Cys)" "" "0000576494" "00000455" "30" "1068" "0" "1068" "0" "c.1068G>T" "r.(?)" "p.(Glu356Asp)" "" "0000576495" "00000455" "30" "1053" "0" "1053" "0" "c.1053C>A" "r.(?)" "p.(Ser351Arg)" "" "0000576496" "00000455" "30" "839" "0" "839" "0" "c.839G>A" "r.(?)" "p.(Arg280Gln)" "" "0000576497" "00000455" "50" "630" "0" "630" "0" "c.630G>T" "r.(?)" "p.(Glu210Asp)" "" "0000576498" "00000455" "30" "503" "0" "503" "0" "c.503C>T" "r.(?)" "p.(Ala168Val)" "" "0000576499" "00000455" "30" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(His147Tyr)" "" "0000619673" "00000455" "30" "3415" "0" "3415" "0" "c.3415dup" "r.(?)" "p.(Glu1139GlyfsTer39)" "" "0000619674" "00000455" "30" "3240" "0" "3240" "0" "c.3240C>A" "r.(?)" "p.(Leu1080=)" "" "0000619675" "00000455" "30" "3141" "0" "3141" "0" "c.3141C>T" "r.(?)" "p.(Ala1047=)" "" "0000619676" "00000455" "30" "2266" "0" "2266" "0" "c.2266G>A" "r.(?)" "p.(Ala756Thr)" "" "0000619677" "00000455" "30" "1675" "0" "1675" "0" "c.1675G>A" "r.(?)" "p.(Glu559Lys)" "" "0000619678" "00000455" "30" "1541" "0" "1541" "0" "c.1541G>T" "r.(?)" "p.(Arg514Ile)" "" "0000624651" "00000455" "30" "2228" "0" "2228" "0" "c.2228A>C" "r.(?)" "p.(Glu743Ala)" "" "0000624652" "00000455" "30" "1387" "0" "1387" "0" "c.1387C>A" "r.(?)" "p.(Pro463Thr)" "" "0000624653" "00000455" "50" "1229" "0" "1229" "0" "c.1229A>G" "r.(?)" "p.(His410Arg)" "" "0000624654" "00000455" "30" "437" "0" "437" "0" "c.437G>A" "r.(?)" "p.(Arg146Gln)" "" "0000652932" "00000455" "10" "4101" "0" "4101" "0" "c.4101G>T" "r.(?)" "p.(Leu1367Phe)" "" "0000659374" "00000455" "30" "2416" "0" "2416" "0" "c.2416C>T" "r.(?)" "p.(Pro806Ser)" "" "0000660608" "00000455" "70" "3772" "0" "3772" "0" "c.3772C>T" "r.(?)" "p.(Gln1258*)" "" "0000670130" "00000455" "10" "4101" "0" "4101" "0" "c.4101G>T" "r.(?)" "p.(Leu1367Phe)" "" "0000682494" "00000455" "30" "3611" "0" "3611" "0" "c.3611A>G" "r.(?)" "p.(Glu1204Gly)" "" "0000682495" "00000455" "30" "2931" "0" "2931" "0" "c.2931A>G" "r.(?)" "p.(Gly977=)" "" "0000682496" "00000455" "30" "725" "0" "725" "0" "c.725G>A" "r.(?)" "p.(Arg242His)" "" "0000693649" "00000455" "50" "4472" "0" "4472" "0" "c.4472G>T" "r.(?)" "p.(Ser1491Ile)" "" "0000693650" "00000455" "10" "3411" "0" "3413" "0" "c.3411_3413del" "r.(?)" "p.(Glu1151del)" "" "0000729009" "00000455" "50" "4352" "0" "4352" "0" "c.4352A>G" "r.(?)" "p.(Tyr1451Cys)" "" "0000729010" "00000455" "50" "2480" "0" "2480" "0" "c.2480A>G" "r.(?)" "p.(Asp827Gly)" "" "0000789678" "00000455" "70" "405" "-1" "405" "-1" "c.405-1G>A" "r.spl?" "p.?" "" "0000810491" "00000455" "30" "3426" "0" "3428" "0" "c.3426_3428dup" "r.(?)" "p.(Glu1151dup)" "" "0000810492" "00000455" "30" "2821" "0" "2821" "0" "c.2821C>T" "r.(?)" "p.(Pro941Ser)" "" "0000810493" "00000455" "30" "1675" "0" "1675" "0" "c.1675G>A" "r.(?)" "p.(Glu559Lys)" "" "0000810494" "00000455" "50" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Arg409His)" "" "0000810495" "00000455" "30" "450" "0" "450" "0" "c.450C>T" "r.(?)" "p.(Thr150=)" "" "0000856684" "00000455" "30" "2904" "0" "2904" "0" "c.2904T>G" "r.(?)" "p.(Pro968=)" "" "0000856685" "00000455" "50" "2285" "0" "2285" "0" "c.2285G>C" "r.(?)" "p.(Gly762Ala)" "" "0000867443" "00000455" "30" "3627" "0" "3627" "0" "c.3627A>G" "r.(?)" "p.(Ala1209=)" "" "0000867444" "00000455" "30" "2979" "0" "2979" "0" "c.2979T>C" "r.(?)" "p.(Thr993=)" "" "0000867445" "00000455" "50" "1760" "0" "1760" "0" "c.1760G>A" "r.(?)" "p.(Arg587His)" "" "0000896288" "00000455" "50" "3438" "0" "3443" "0" "c.3438_3443del" "r.(?)" "p.(Glu1150_Glu1151del)" "" "0000904836" "00000455" "70" "3919" "0" "3919" "0" "c.3919G>A" "r.(?)" "p.(Asp1307Asn)" "" "0000931435" "00000455" "50" "836" "0" "836" "0" "c.836G>T" "r.(?)" "p.(Arg279Met)" "" "0000984734" "00000455" "30" "3413" "0" "3414" "0" "c.3413_3414insGG" "r.(?)" "p.(Glu1140LysfsTer42)" "" "0001006838" "00000455" "50" "3307" "0" "3307" "0" "c.3307C>T" "r.(?)" "p.(Arg1103Cys)" "" "0001006839" "00000455" "30" "1996" "0" "1996" "0" "c.1996G>A" "r.(?)" "p.(Glu666Lys)" "" "0001006840" "00000455" "30" "1568" "0" "1568" "0" "c.1568C>A" "r.(?)" "p.(Ala523Asp)" "" "0001006841" "00000455" "50" "1276" "0" "1276" "0" "c.1276C>G" "r.(?)" "p.(Leu426Val)" "" "0001044388" "00000455" "50" "2628" "0" "2628" "0" "c.2628del" "r.(?)" "p.(Cys877Valfs*20)" "" "0001044389" "00000455" "30" "2192" "0" "2192" "0" "c.2192A>G" "r.(?)" "p.(Glu731Gly)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 35 "{{screeningid}}" "{{variantid}}" "0000000209" "0000001938" "0000000209" "0000002971" "0000000209" "0000002972" "0000000209" "0000006876" "0000000209" "0000006877" "0000000209" "0000006878" "0000000209" "0000006879" "0000000209" "0000006880" "0000000209" "0000006881" "0000000210" "0000008947" "0000000210" "0000008948" "0000000210" "0000008949" "0000000210" "0000008950" "0000000210" "0000010968" "0000000210" "0000014844" "0000000210" "0000014845" "0000000210" "0000014846" "0000000210" "0000014847" "0000065394" "0000153893" "0000173736" "0000393975" "0000173737" "0000393976" "0000173738" "0000393977" "0000173739" "0000393978" "0000173740" "0000393979" "0000173741" "0000393980" "0000173742" "0000393981" "0000173743" "0000393982" "0000173744" "0000393983" "0000173745" "0000393984" "0000173746" "0000393985" "0000296243" "0000652932" "0000297905" "0000660608" "0000306442" "0000670130" "0000377361" "0000789678" "0000427476" "0000904836"