### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PQBP1) # 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}}" "PQBP1" "polyglutamine binding protein 1" "X" "p11.23" "unknown" "NG_015967.1" "UD_132084565805" "" "https://www.LOVD.nl/PQBP1" "" "1" "9330" "10084" "300463" "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" "https://databases.lovd.nl/shared/refseq/PQBP1_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2021-02-09 15:11:15" "00006" "2025-10-10 16:21:07" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000574" "PQBP1" "transcript variant 4" "002" "NM_001032383.1" "" "NP_001027555.1" "" "" "" "-200" "857" "798" "48755195" "48760420" "00000" "2012-09-13 12:33:34" "" "" "00025598" "PQBP1" "transcript variant 1" "010" "NM_005710.2" "" "NP_005701.1" "" "" "" "-254" "857" "798" "48755539" "48760420" "00006" "2021-02-09 15:09:43" "" "" ## 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" "01063" "RENS" "Renpenning syndrome (RENS)" "" "" "" "" "" "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" "05899" "RENS1" "Renpenning syndrome, type 1 (RENS1)" "XLR" "309500" "" "" "" "00006" "2021-02-09 15:16:23" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PQBP1" "00139" "PQBP1" "05899" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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" "" "" "" "" "00050407" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected and affected2nd degree relatives" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00172644" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172645" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00180161" "" "" "" "1" "" "00006" "{PMID:Tumienė 2018:29286531}" "" "" "" "(Slovenia)" "" "0" "" "" "" "29286531-Pat13" "00183116" "" "" "" "5" "" "00006" "{PMID:Hu 2016:25644381}" "family, 5 affected, 3 unaffected heterozygous carrier females" "M" "" "" "" "0" "" "" "" "25644381-FamP57" "00183161" "" "" "" "1" "" "00006" "{PMID:Hu 2016:25644381}" "family, 1 affected, 1 unaffected heterozygous carrier female" "M" "" "" "" "0" "" "" "" "25644381-FamAU72" "00296789" "" "" "" "2" "" "00006" "{PMID:Redin 2014:25167861}" "analysis 106 patients; 2-generation family, 2 affected brothers, unaffected carrier mother" "M" "" "France" "" "0" "" "" "" "APN-70" "00307761" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5411452" "00307762" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5410844" "00327047" "" "" "" "2" "" "01793" "" "" "" "yes" "Turkey" "" "" "" "" "" "" "00466080" "" "" "" "1" "" "01164" "" "" "M" "?" "Syria" "" "0" "" "" "" "337928" "00467291" "" "" "" "2" "" "00006" "{PMID:Soden 2014:25473036}" "family, 2 affected" "" "" "United States" "" "0" "" "" "" "CMH311/312" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00050407" "00198" "00172644" "00187" "00172645" "00187" "00180161" "00198" "00183116" "00187" "00183161" "00187" "00296789" "00139" "00307761" "00139" "00307762" "00139" "00327047" "01063" "00466080" "05899" "00467291" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 00198, 01063, 01157, 05899 ## Count = 13 "{{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}}" "0000037019" "00198" "00050407" "00006" "Unknown" "" "intellectual disability profound, double outlet right ventricle, abnormality of the choroid, reduced factor xi activity" "" "" "" "" "" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "" "" "0000137508" "00187" "00172644" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137509" "00187" "00172645" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000142615" "00198" "00180161" "00006" "Familial, X-linked recessive" "" "Epilepsy (HP:0001250), microcephaly (HP:0000252), mild intellectual disability (HP:0001256), speech delay (HP:0000750), hyperactivity (HP:0000752), prominent ears (HP:0000411)." "" "" "" "" "" "" "" "" "" "Renpenning syndrome" "epilepsy or seizures associated with neurodevelopmental disorders and/or congenital malformations" "" "0000143870" "00187" "00183116" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000143915" "00187" "00183161" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000224188" "00139" "00296789" "00006" "Familial, X-linked recessive" "" "moderate intellectual disability" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000245490" "02056" "00327047" "01793" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "Renpening syndrome" "" "0000245499" "01063" "00327047" "01793" "Familial, X-linked recessive" "" "Long face\r\nTriangular face\r\nMicrognathia / Mandibular prognathia\r\nLarge cupped ears\r\nWide nasal bridge\r\nHigh Palate\r\nThin upper lip\r\nThin hair\r\nLaterally sparse eyebrows" "" "" "" "" "Bayram TORAMAN" "" "" "" "" "" "" "" "0000351465" "05899" "00466080" "01164" "Familial, X-linked recessive" "12y" "Absent speech, Intellectual disability, Pruritus, Autism, Microcephaly, Neurodevelopmental delay" "" "" "" "" "" "" "" "" "" "" "" "" "0000352498" "00198" "00467291" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "Renpenning syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{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" "" "" "0000050352" "00050407" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000173527" "00172644" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173528" "00172645" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000181064" "00180161" "1" "00006" "00006" "2018-08-24 19:40:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000184074" "00183116" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000184119" "00183161" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000297899" "00296789" "1" "00006" "00006" "2020-04-13 12:27:32" "" "" "SEQ;SEQ-NG" "DNA" "" "244-gene ID panel" "0000308901" "00307761" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000308902" "00307762" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000328263" "00327047" "1" "01793" "01793" "2021-01-19 16:12:06" "" "" "arraySNP;SEQ-NG" "DNA" "Blood" "" "0000467737" "00466080" "1" "01164" "01164" "2025-08-01 12:45:02" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000468954" "00467291" "1" "00006" "00006" "2025-10-10 16:20:58" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{geneid}}" "0000050352" "PQBP1" "0000173527" "FOXO4" "0000173528" "HDAC6" "0000181064" "PQBP1" "0000184074" "PQBP1" "0000184119" "PQBP1" "0000297899" "PQBP1" "0000308901" "PQBP1" "0000308902" "PQBP1" "0000328263" "PQBP1" "0000467737" "PQBP1" ## 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 = 71 "{{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}}" "0000001926" "20" "50" "X" "48758766" "48758767" "del" "0" "00037" "PQBP1_000004" "g.48758766_48758767del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48901489_48901490del" "" "VUS" "" "0000002954" "0" "50" "X" "48756063" "48756067" "del" "0" "00037" "PQBP1_000009" "g.48756063_48756067del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48898780_48898784del" "" "VUS" "" "0000002955" "20" "50" "X" "48758760" "48758761" "del" "0" "00037" "PQBP1_000010" "g.48758760_48758761del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48901483_48901484del" "" "VUS" "" "0000006830" "20" "50" "X" "48759204" "48759204" "subst" "0.605892" "00037" "PQBP1_000006" "g.48759204C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48901927C>T" "" "VUS" "" "0000008904" "20" "50" "X" "48758766" "48758767" "del" "0" "00037" "PQBP1_000004" "g.48758766_48758767del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48901489_48901490del" "" "VUS" "" "0000008905" "20" "50" "X" "48759204" "48759204" "subst" "0.605892" "00037" "PQBP1_000006" "g.48759204C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48901927C>T" "" "VUS" "" "0000010953" "20" "50" "X" "48758760" "48758761" "del" "0" "00037" "PQBP1_000010" "g.48758760_48758761del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48901483_48901484del" "" "VUS" "" "0000079332" "21" "90" "X" "48759676" "48759679" "del" "0" "00006" "PQBP1_000011" "g.48759676_48759679del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.48902399_48902402del" "" "pathogenic" "" "0000297295" "0" "10" "X" "48759204" "48759204" "subst" "0.605892" "02325" "PQBP1_000006" "g.48759204C>T" "" "" "" "PQBP1(NM_005710.2):c.180-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48901927C>T" "" "benign" "" "0000299541" "0" "90" "X" "48762368" "48762368" "subst" "0" "02329" "SLC35A2_000013" "g.48762368C>T" "" "" "" "SLC35A2(NM_001042498.3):c.818G>A (p.G273D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48905091C>T" "" "pathogenic" "" "0000301169" "0" "30" "X" "48755380" "48755380" "subst" "0" "02326" "TIMM17B_000003" "g.48755380G>A" "" "" "" "PQBP1(NM_001032383.1):c.-19+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48898097G>A" "" "likely benign" "" "0000301170" "0" "30" "X" "48759277" "48759277" "subst" "1.11872E-5" "02326" "PQBP1_000012" "g.48759277G>A" "" "" "" "PQBP1(NM_005710.2):c.250G>A (p.V84M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48902000G>A" "" "likely benign" "" "0000308422" "0" "50" "X" "48762245" "48762245" "subst" "0" "01943" "SLC35A2_000012" "g.48762245C>A" "" "" "" "SLC35A2(NM_001282651.1):c.1025G>T (p.R342L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48904968C>A" "" "VUS" "" "0000308423" "0" "50" "X" "48762179" "48762179" "subst" "0" "01943" "SLC35A2_000011" "g.48762179T>C" "" "" "" "SLC35A2(NM_001282651.1):c.1091A>G (p.Y364C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48904902T>C" "" "VUS" "" "0000308427" "0" "50" "X" "48762689" "48762689" "subst" "0" "01943" "SLC35A2_000016" "g.48762689C>T" "" "" "" "SLC35A2(NM_001282651.1):c.581G>A (p.R194Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48905412C>T" "" "VUS" "" "0000308428" "0" "30" "X" "48762571" "48762571" "subst" "0" "01943" "SLC35A2_000015" "g.48762571G>A" "" "" "" "SLC35A2(NM_001282651.1):c.699C>T (p.A233=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48905294G>A" "" "likely benign" "" "0000308430" "0" "90" "X" "48762434" "48762434" "del" "0" "01943" "SLC35A2_000014" "g.48762434del" "" "" "" "SLC35A2(NM_001042498.2):c.753delG (p.W251Cfs*98)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48905157del" "" "pathogenic" "" "0000334020" "0" "30" "X" "48759614" "48759614" "subst" "3.40346E-5" "01804" "PQBP1_000013" "g.48759614C>T" "" "" "" "PQBP1(NM_001032381.1):c.397C>T (p.(Arg133Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48902337C>T" "" "likely benign" "" "0000334021" "0" "30" "X" "48762057" "48762057" "subst" "1.68826E-5" "01804" "SLC35A2_000010" "g.48762057G>A" "" "" "" "SLC35A2(NM_001032289.1):c.539C>T (p.(Pro180Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48904780G>A" "" "likely benign" "" "0000341212" "0" "50" "X" "48762678" "48762678" "subst" "0" "02327" "SLC35A2_000026" "g.48762678C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48905401C>G" "" "VUS" "" "0000345948" "0" "70" "X" "48762342" "48762342" "subst" "0" "02327" "SLC35A2_000023" "g.48762342C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48905065C>T" "" "likely pathogenic" "" "0000350252" "0" "30" "X" "48763745" "48763745" "subst" "0" "02327" "SLC35A2_000027" "g.48763745A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48906468A>G" "" "likely benign" "" "0000350387" "0" "50" "X" "48762570" "48762570" "subst" "0" "02327" "SLC35A2_000024" "g.48762570C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48905293C>T" "" "VUS" "" "0000393386" "1" "50" "X" "48755811" "48755811" "subst" "0" "00124" "PQBP1_000016" "g.48755811C>G" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.48898528C>G" "" "VUS" "" "0000393387" "1" "50" "X" "48759551" "48759571" "del" "0" "00124" "PQBP1_000017" "g.48759551_48759571del" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "334_354delAGGGGCCATGACAAGTCGGAC" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.48902274_48902294del" "" "VUS" "" "0000404700" "1" "90" "X" "48759676" "48759679" "del" "0" "00006" "PQBP1_000015" "g.48759676_48759679del" "" "{PMID:Tumienė 2018:29286531}" "" "459_462delAGAG" "" "Germline" "" "" "0" "" "" "g.48902399_48902402del" "" "pathogenic" "ACMG" "0000408043" "21" "90" "X" "48760282" "48760282" "del" "0" "00006" "PQBP1_000019" "g.48760282del" "" "{PMID:Hu 2016:25644381}" "" "PQBP1 F240Sfs*26" "" "Germline" "yes" "" "0" "" "" "g.48903005del" "" "pathogenic" "" "0000408088" "20" "90" "X" "48760017" "48760017" "subst" "0" "00006" "PQBP1_000018" "g.48760017C>T" "" "{PMID:Hu 2016:25644381}" "" "PQBP1 R196*" "" "Germline" "" "" "0" "" "" "g.48902740C>T" "" "pathogenic" "" "0000576272" "0" "30" "X" "48752372" "48752372" "subst" "0.00060117" "01804" "TIMM17B_000004" "g.48752372G>A" "" "" "" "TIMM17B(NM_001167947.1):c.289C>T (p.(Arg97Trp)), TIMM17B(NM_001167947.2):c.289C>T (p.R97W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48895089G>A" "" "likely benign" "" "0000576273" "0" "30" "X" "48752704" "48752704" "subst" "0" "01943" "TIMM17B_000005" "g.48752704C>A" "" "" "" "TIMM17B(NM_001167947.2):c.207G>T (p.E69D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48895421C>A" "" "likely benign" "" "0000576275" "0" "30" "X" "48759558" "48759558" "subst" "5.59951E-6" "01943" "TIMM17B_000006" "g.48759558A>G" "" "" "" "PQBP1(NM_005710.2):c.341A>G (p.H114R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48902281A>G" "" "likely benign" "" "0000576276" "0" "50" "X" "48759647" "48759647" "subst" "0" "01943" "TIMM17B_000007" "g.48759647C>T" "" "" "" "PQBP1(NM_005710.2):c.430C>T (p.R144C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48902370C>T" "" "VUS" "" "0000576278" "0" "30" "X" "48760016" "48760016" "subst" "0.0004395" "02326" "TIMM17B_000008" "g.48760016C>T" "" "" "" "PQBP1(NM_005710.2):c.585C>T (p.S195=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48902739C>T" "" "likely benign" "" "0000576279" "0" "90" "X" "48760017" "48760017" "subst" "0" "01943" "PQBP1_000018" "g.48760017C>T" "" "" "" "PQBP1(NM_005710.2):c.586C>T (p.R196*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48902740C>T" "" "pathogenic" "" "0000576280" "0" "30" "X" "48761989" "48761989" "subst" "2.25688E-5" "01943" "TIMM17B_000009" "g.48761989C>T" "" "" "" "SLC35A2(NM_001032289.2):c.607G>A (p.G203R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48904712C>T" "" "likely benign" "" "0000576282" "0" "30" "X" "48762124" "48762124" "subst" "5.64866E-5" "01943" "TIMM17B_000011" "g.48762124G>A" "" "" "" "SLC35A2(NM_001032289.2):c.472C>T (p.R158C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48904847G>A" "" "likely benign" "" "0000619634" "0" "30" "X" "48760016" "48760016" "subst" "0.0004395" "01943" "TIMM17B_000008" "g.48760016C>T" "" "" "" "PQBP1(NM_005710.2):c.585C>T (p.S195=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48902739C>T" "" "likely benign" "" "0000619636" "0" "30" "X" "48762358" "48762358" "subst" "6.23169E-5" "01943" "TIMM17B_000013" "g.48762358G>A" "" "" "" "SLC35A2(NM_001282651.1):c.912C>T (p.L304=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48905081G>A" "" "likely benign" "" "0000619637" "0" "50" "X" "48762555" "48762555" "subst" "0" "02327" "TIMM17B_000014" "g.48762555G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48905278G>C" "" "VUS" "" "0000659343" "0" "30" "X" "48759207" "48759207" "subst" "2.23992E-5" "01943" "TIMM17B_000015" "g.48759207C>T" "" "" "" "PQBP1(NM_005710.2):c.180C>T (p.C60=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48901930C>T" "" "likely benign" "" "0000659344" "0" "30" "X" "48760636" "48760636" "subst" "0" "02325" "TIMM17B_000016" "g.48760636A>G" "" "" "" "SLC35A2(NM_005660.3):c.*79T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48903359A>G" "" "likely benign" "" "0000660599" "21" "70" "X" "48760294" "48760294" "subst" "0" "00006" "PQBP1_000020" "g.48760294C>T" "" "{PMID:Redin 2014:25167861}" "" "" "" "Germline" "" "" "0" "" "" "g.48903017C>T" "" "pathogenic (recessive)" "" "0000682476" "0" "50" "X" "48758481" "48758481" "subst" "0" "01943" "TIMM17B_000017" "g.48758481A>G" "" "" "" "PQBP1(NM_005710.2):c.82A>G (p.I28V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000683335" "0" "70" "X" "48759320" "48759320" "subst" "0" "00006" "PQBP1_000021" "g.48759320G>A" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.48902043G>A" "" "likely pathogenic" "" "0000683336" "0" "70" "X" "48759676" "48759679" "del" "0" "00006" "PQBP1_000011" "g.48759676_48759679del" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.48902399_48902402del" "" "likely pathogenic" "" "0000693626" "0" "30" "X" "48762147" "48762147" "subst" "5.08742E-5" "02326" "TIMM17B_000018" "g.48762147C>T" "" "" "" "SLC35A2(NM_001282651.2):c.1123G>A (p.A375T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000712203" "21" "90" "X" "48759676" "48759679" "del" "0" "01793" "PQBP1_000011" "g.48759676_48759679del" "" "" "" "451_452delAGAG" "" "Germline" "yes" "rs606231193" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000728970" "0" "50" "X" "48759693" "48759693" "subst" "0" "01943" "TIMM17B_000019" "g.48759693G>A" "" "" "" "PQBP1(NM_005710.2):c.476G>A (p.R159Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728971" "0" "30" "X" "48761984" "48761984" "subst" "3.95845E-5" "02326" "TIMM17B_000020" "g.48761984C>G" "" "" "" "SLC35A2(NM_001032289.3):c.612G>C (p.G204=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728972" "0" "30" "X" "48762547" "48762547" "subst" "0.000101326" "02326" "TIMM17B_000021" "g.48762547G>A" "" "" "" "SLC35A2(NM_001282651.2):c.723C>T (p.S241=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810455" "0" "30" "X" "48762056" "48762056" "subst" "2.25185E-5" "01943" "TIMM17B_000022" "g.48762056C>T" "" "" "" "SLC35A2(NM_001282651.1):c.1214G>A (p.R405H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810456" "0" "50" "X" "48762109" "48762109" "subst" "5.65624E-6" "01943" "TIMM17B_000023" "g.48762109G>A" "" "" "" "SLC35A2(NM_001032289.2):c.487C>T (p.R163C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856654" "0" "30" "X" "48751418" "48751418" "subst" "1.92488E-5" "01943" "TIMM17B_000024" "g.48751418G>C" "" "" "" "TIMM17B(NM_001167947.2):c.431C>G (p.T144S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856655" "0" "30" "X" "48759551" "48759571" "del" "0" "01943" "PQBP1_000017" "g.48759551_48759571del" "" "" "" "PQBP1(NM_005710.2):c.334_354delAGGGGCCATGACAAGTCGGAC (p.G113_R119del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856656" "0" "30" "X" "48762415" "48762415" "subst" "2.92557E-5" "01943" "TIMM17B_000027" "g.48762415G>A" "" "" "" "SLC35A2(NM_001282651.1):c.855C>T (p.A285=), SLC35A2(NM_001282651.2):c.855C>T (p.A285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867414" "0" "50" "X" "48759780" "48759780" "subst" "0" "01943" "TIMM17B_000025" "g.48759780C>G" "" "" "" "PQBP1(NM_005710.2):c.563C>G (p.P188R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867415" "0" "30" "X" "48762196" "48762196" "subst" "0.000558471" "01943" "TIMM17B_000026" "g.48762196G>A" "" "" "" "SLC35A2(NM_001282651.1):c.1074C>T (p.L358=), SLC35A2(NM_005660.3):c.990C>T (p.(Leu330=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896264" "0" "30" "X" "48752372" "48752372" "subst" "0.00060117" "02326" "TIMM17B_000004" "g.48752372G>A" "" "" "" "TIMM17B(NM_001167947.1):c.289C>T (p.(Arg97Trp)), TIMM17B(NM_001167947.2):c.289C>T (p.R97W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927385" "0" "50" "X" "48760696" "48760696" "subst" "5.68395E-6" "02325" "TIMM17B_000028" "g.48760696A>T" "" "" "" "SLC35A2(NM_001042498.3):c.*1308T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984718" "0" "10" "X" "48762196" "48762196" "subst" "0.000558471" "01804" "TIMM17B_000026" "g.48762196G>A" "" "" "" "SLC35A2(NM_001282651.1):c.1074C>T (p.L358=), SLC35A2(NM_005660.3):c.990C>T (p.(Leu330=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001006792" "0" "50" "X" "48758545" "48758545" "subst" "0" "01804" "TIMM17B_000029" "g.48758545C>T" "" "" "" "PQBP1(NM_005710.2):c.146C>T (p.(Pro49Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006793" "0" "50" "X" "48759290" "48759290" "subst" "0" "01804" "TIMM17B_000030" "g.48759290C>T" "" "" "" "PQBP1(NM_005710.2):c.263C>T (p.(Ser88Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006794" "0" "10" "X" "48759551" "48759571" "del" "0" "02326" "PQBP1_000017" "g.48759551_48759571del" "" "" "" "PQBP1(NM_005710.2):c.334_354delAGGGGCCATGACAAGTCGGAC (p.G113_R119del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001006795" "0" "50" "X" "48759614" "48759614" "subst" "5.67244E-6" "01804" "TIMM17B_000031" "g.48759614C>G" "" "" "" "PQBP1(NM_005710.2):c.397C>G (p.(Arg133Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006796" "0" "30" "X" "48759674" "48759674" "subst" "0" "01804" "TIMM17B_000032" "g.48759674A>G" "" "" "" "PQBP1(NM_001032382.1):c.457A>G (p.(Arg153Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027508" "0" "50" "X" "48760007" "48760007" "subst" "0" "01943" "TIMM17B_000033" "g.48760007A>G" "" "" "" "PQBP1(NM_005710.2):c.578-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027509" "0" "30" "X" "48762415" "48762415" "subst" "2.92557E-5" "02326" "TIMM17B_000027" "g.48762415G>A" "" "" "" "SLC35A2(NM_001282651.1):c.855C>T (p.A285=), SLC35A2(NM_001282651.2):c.855C>T (p.A285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044364" "0" "50" "X" "48760708" "48760708" "subst" "0" "01804" "TIMM17B_000034" "g.48760708C>G" "" "" "" "SLC35A2(NM_001282647.2):c.608G>C (p.(Gly203Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046867" "0" "50" "X" "48759525" "48759566" "del" "0" "02325" "TIMM17B_000035" "g.48759525_48759566del" "" "" "" "PQBP1(NM_005710.2):c.308_349del (p.L103_K116del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047047" "21" "70" "X" "48759676" "48759679" "del" "0" "01164" "PQBP1_000011" "g.48759676_48759679del" "" "PMID: 20950397, 30500859, 31316545, 14634649" "" "" "ACMG: PVS1-very strong,PS3-strong,PM2-supporting,PP1-supporting" "Germline" "yes" "" "0" "" "" "g.48902399_48902402del" "VCV000010980.71" "pathogenic (recessive)" "ACMG" "0001049048" "21" "90" "X" "48759676" "48759679" "del" "0" "00006" "PQBP1_000011" "g.48759676_48759679del" "" "{PMID:Soden 2014:25473036}" "" "ref?:c.459_462delAGAG" "" "Germline" "" "" "0" "" "" "g.48902399_48902402del" "" "pathogenic (recessive)" "" ## 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 PQBP1 ## Count = 135 "{{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}}" "0000001926" "00000574" "50" "179" "188" "179" "189" "c.179+188_179+189del" "r.(=)" "p.(=)" "" "0000001926" "00025598" "50" "179" "188" "179" "189" "c.179+188_179+189del" "r.(=)" "p.(=)" "" "0000002954" "00000574" "50" "67" "204" "67" "208" "c.67+204_67+208del" "r.(=)" "p.(=)" "" "0000002954" "00025598" "50" "67" "204" "67" "208" "c.67+204_67+208del" "r.(=)" "p.(=)" "" "0000002955" "00000574" "50" "179" "182" "179" "183" "c.179+182_179+183del" "r.(=)" "p.(=)" "" "0000002955" "00025598" "50" "179" "182" "179" "183" "c.179+182_179+183del" "r.(=)" "p.(=)" "" "0000006830" "00000574" "50" "180" "-3" "180" "-3" "c.180-3C>T" "r.spl?" "p.(=)" "" "0000006830" "00025598" "50" "180" "-3" "180" "-3" "c.180-3C>T" "r.spl?" "p.?" "" "0000008904" "00000574" "50" "179" "188" "179" "189" "c.179+188_179+189del" "r.(=)" "p.(=)" "" "0000008904" "00025598" "50" "179" "188" "179" "189" "c.179+188_179+189del" "r.(=)" "p.(=)" "" "0000008905" "00000574" "50" "180" "-3" "180" "-3" "c.180-3C>T" "r.spl?" "p.(=)" "" "0000008905" "00025598" "50" "180" "-3" "180" "-3" "c.180-3C>T" "r.spl?" "p.?" "" "0000010953" "00000574" "50" "179" "182" "179" "183" "c.179+182_179+183del" "r.(=)" "p.(=)" "" "0000010953" "00025598" "50" "179" "182" "179" "183" "c.179+182_179+183del" "r.(=)" "p.(=)" "" "0000079332" "00000574" "00" "459" "0" "462" "0" "c.459_462del" "r.(?)" "p.(Arg153SerfsTer41)" "" "0000079332" "00025598" "90" "459" "0" "462" "0" "c.459_462del" "r.(?)" "p.(Arg153Serfs*41)" "" "0000297295" "00000574" "10" "180" "-3" "180" "-3" "c.180-3C>T" "r.spl?" "p.?" "" "0000297295" "00025598" "10" "180" "-3" "180" "-3" "c.180-3C>T" "r.spl?" "p.?" "" "0000299541" "00000574" "90" "2805" "0" "2805" "0" "c.*2007C>T" "r.(=)" "p.(=)" "" "0000299541" "00025598" "90" "2805" "0" "2805" "0" "c.*2007C>T" "r.(=)" "p.(=)" "" "0000301169" "00000574" "30" "-19" "4" "-19" "4" "c.-19+4G>A" "r.spl?" "p.?" "" "0000301169" "00025598" "30" "-413" "0" "-413" "0" "c.-413G>A" "r.(?)" "p.(=)" "" "0000301170" "00000574" "30" "250" "0" "250" "0" "c.250G>A" "r.(?)" "p.(Val84Met)" "" "0000301170" "00025598" "30" "250" "0" "250" "0" "c.250G>A" "r.(?)" "p.(Val84Met)" "" "0000308422" "00000574" "50" "2682" "0" "2682" "0" "c.*1884C>A" "r.(=)" "p.(=)" "" "0000308422" "00025598" "50" "2682" "0" "2682" "0" "c.*1884C>A" "r.(=)" "p.(=)" "" "0000308423" "00000574" "50" "2616" "0" "2616" "0" "c.*1818T>C" "r.(=)" "p.(=)" "" "0000308423" "00025598" "50" "2616" "0" "2616" "0" "c.*1818T>C" "r.(=)" "p.(=)" "" "0000308427" "00000574" "50" "3126" "0" "3126" "0" "c.*2328C>T" "r.(=)" "p.(=)" "" "0000308427" "00025598" "50" "3126" "0" "3126" "0" "c.*2328C>T" "r.(=)" "p.(=)" "" "0000308428" "00000574" "30" "3008" "0" "3008" "0" "c.*2210G>A" "r.(=)" "p.(=)" "" "0000308428" "00025598" "30" "3008" "0" "3008" "0" "c.*2210G>A" "r.(=)" "p.(=)" "" "0000308430" "00000574" "90" "2871" "0" "2871" "0" "c.*2073del" "r.(?)" "p.(=)" "" "0000308430" "00025598" "90" "2871" "0" "2871" "0" "c.*2073del" "r.(?)" "p.(=)" "" "0000334020" "00000574" "30" "397" "0" "397" "0" "c.397C>T" "r.(?)" "p.(Arg133Trp)" "" "0000334020" "00025598" "30" "397" "0" "397" "0" "c.397C>T" "r.(?)" "p.(Arg133Trp)" "" "0000334021" "00000574" "30" "2494" "0" "2494" "0" "c.*1696G>A" "r.(=)" "p.(=)" "" "0000334021" "00025598" "30" "2494" "0" "2494" "0" "c.*1696G>A" "r.(=)" "p.(=)" "" "0000341212" "00000574" "50" "3115" "0" "3115" "0" "c.*2317C>G" "r.(=)" "p.(=)" "" "0000341212" "00025598" "50" "3115" "0" "3115" "0" "c.*2317C>G" "r.(=)" "p.(=)" "" "0000345948" "00000574" "70" "2779" "0" "2779" "0" "c.*1981C>T" "r.(=)" "p.(=)" "" "0000345948" "00025598" "70" "2779" "0" "2779" "0" "c.*1981C>T" "r.(=)" "p.(=)" "" "0000350252" "00000574" "30" "4182" "0" "4182" "0" "c.*3384A>G" "r.(=)" "p.(=)" "" "0000350252" "00025598" "30" "4182" "0" "4182" "0" "c.*3384A>G" "r.(=)" "p.(=)" "" "0000350387" "00000574" "50" "3007" "0" "3007" "0" "c.*2209C>T" "r.(=)" "p.(=)" "" "0000350387" "00025598" "50" "3007" "0" "3007" "0" "c.*2209C>T" "r.(=)" "p.(=)" "" "0000393386" "00000574" "50" "19" "0" "19" "0" "c.19C>G" "r.(?)" "p.(Leu7Val)" "" "0000393386" "00025598" "50" "19" "0" "19" "0" "c.19C>G" "r.(?)" "p.(Leu7Val)" "" "0000393387" "00000574" "50" "334" "0" "354" "0" "c.334_354del" "r.(?)" "p.(Gly113_Arg119del)" "" "0000393387" "00025598" "50" "334" "0" "354" "0" "c.334_354del" "r.(?)" "p.(Gly113_Arg119del)" "" "0000404700" "00000574" "90" "459" "0" "462" "0" "c.459_462del" "r.(?)" "p.(Arg153Serfs*41)" "5" "0000408043" "00000574" "00" "719" "0" "719" "0" "c.719del" "r.(?)" "p.(Phe240Serfs*36)" "" "0000408043" "00025598" "90" "719" "0" "719" "0" "c.719del" "r.(?)" "p.(Phe240Serfs*36)" "" "0000408088" "00000574" "00" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Arg196*)" "" "0000408088" "00025598" "90" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Arg196*)" "" "0000576272" "00000574" "30" "-3023" "0" "-3023" "0" "c.-3023G>A" "r.(?)" "p.(=)" "" "0000576272" "00025598" "30" "-3421" "0" "-3421" "0" "c.-3421G>A" "r.(?)" "p.(=)" "" "0000576273" "00000574" "30" "-2691" "0" "-2691" "0" "c.-2691C>A" "r.(?)" "p.(=)" "" "0000576273" "00025598" "30" "-3089" "0" "-3089" "0" "c.-3089C>A" "r.(?)" "p.(=)" "" "0000576275" "00000574" "30" "341" "0" "341" "0" "c.341A>G" "r.(?)" "p.(His114Arg)" "" "0000576275" "00025598" "30" "341" "0" "341" "0" "c.341A>G" "r.(?)" "p.(His114Arg)" "" "0000576276" "00000574" "50" "430" "0" "430" "0" "c.430C>T" "r.(?)" "p.(Arg144Cys)" "" "0000576276" "00025598" "50" "430" "0" "430" "0" "c.430C>T" "r.(?)" "p.(Arg144Cys)" "" "0000576278" "00000574" "30" "585" "0" "585" "0" "c.585C>T" "r.(?)" "p.(Ser195=)" "" "0000576278" "00025598" "30" "585" "0" "585" "0" "c.585C>T" "r.(?)" "p.(Ser195=)" "" "0000576279" "00000574" "90" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Arg196Ter)" "" "0000576279" "00025598" "90" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Arg196Ter)" "" "0000576280" "00000574" "30" "2426" "0" "2426" "0" "c.*1628C>T" "r.(=)" "p.(=)" "" "0000576280" "00025598" "30" "2426" "0" "2426" "0" "c.*1628C>T" "r.(=)" "p.(=)" "" "0000576282" "00000574" "30" "2561" "0" "2561" "0" "c.*1763G>A" "r.(=)" "p.(=)" "" "0000576282" "00025598" "30" "2561" "0" "2561" "0" "c.*1763G>A" "r.(=)" "p.(=)" "" "0000619634" "00000574" "30" "585" "0" "585" "0" "c.585C>T" "r.(?)" "p.(Ser195=)" "" "0000619634" "00025598" "30" "585" "0" "585" "0" "c.585C>T" "r.(?)" "p.(Ser195=)" "" "0000619636" "00000574" "30" "2795" "0" "2795" "0" "c.*1997G>A" "r.(=)" "p.(=)" "" "0000619636" "00025598" "30" "2795" "0" "2795" "0" "c.*1997G>A" "r.(=)" "p.(=)" "" "0000619637" "00000574" "50" "2992" "0" "2992" "0" "c.*2194G>C" "r.(=)" "p.(=)" "" "0000619637" "00025598" "50" "2992" "0" "2992" "0" "c.*2194G>C" "r.(=)" "p.(=)" "" "0000659343" "00000574" "30" "180" "0" "180" "0" "c.180C>T" "r.(?)" "p.(Cys60=)" "" "0000659343" "00025598" "30" "180" "0" "180" "0" "c.180C>T" "r.(?)" "p.(Cys60=)" "" "0000659344" "00000574" "30" "1073" "0" "1073" "0" "c.*275A>G" "r.(=)" "p.(=)" "" "0000659344" "00025598" "30" "1073" "0" "1073" "0" "c.*275A>G" "r.(=)" "p.(=)" "" "0000660599" "00000574" "70" "731" "0" "731" "0" "c.731C>T" "r.(?)" "p.(Pro244Leu)" "" "0000682476" "00000574" "50" "82" "0" "82" "0" "c.82A>G" "r.(?)" "p.(Ile28Val)" "" "0000682476" "00025598" "50" "82" "0" "82" "0" "c.82A>G" "r.(?)" "p.(Ile28Val)" "" "0000683335" "00000574" "70" "292" "1" "292" "1" "c.292+1G>A" "r.spl" "p.?" "" "0000683336" "00000574" "70" "459" "0" "462" "0" "c.459_462del" "r.(?)" "p.(Arg153Serfs*41)" "" "0000693626" "00000574" "30" "2584" "0" "2584" "0" "c.*1786C>T" "r.(=)" "p.(=)" "" "0000693626" "00025598" "30" "2584" "0" "2584" "0" "c.*1786C>T" "r.(=)" "p.(=)" "" "0000712203" "00025598" "90" "459" "0" "462" "0" "c.459_462del" "r.(?)" "p.(Arg153Serfs*41)" "" "0000728970" "00000574" "50" "476" "0" "476" "0" "c.476G>A" "r.(?)" "p.(Arg159Gln)" "" "0000728970" "00025598" "50" "476" "0" "476" "0" "c.476G>A" "r.(?)" "p.(Arg159Gln)" "" "0000728971" "00000574" "30" "2421" "0" "2421" "0" "c.*1623C>G" "r.(=)" "p.(=)" "" "0000728971" "00025598" "30" "2421" "0" "2421" "0" "c.*1623C>G" "r.(=)" "p.(=)" "" "0000728972" "00000574" "30" "2984" "0" "2984" "0" "c.*2186G>A" "r.(=)" "p.(=)" "" "0000728972" "00025598" "30" "2984" "0" "2984" "0" "c.*2186G>A" "r.(=)" "p.(=)" "" "0000810455" "00000574" "30" "2493" "0" "2493" "0" "c.*1695C>T" "r.(=)" "p.(=)" "" "0000810455" "00025598" "30" "2493" "0" "2493" "0" "c.*1695C>T" "r.(=)" "p.(=)" "" "0000810456" "00000574" "50" "2546" "0" "2546" "0" "c.*1748G>A" "r.(=)" "p.(=)" "" "0000810456" "00025598" "50" "2546" "0" "2546" "0" "c.*1748G>A" "r.(=)" "p.(=)" "" "0000856654" "00000574" "30" "-3977" "0" "-3977" "0" "c.-3977G>C" "r.(?)" "p.(=)" "" "0000856654" "00025598" "30" "-4375" "0" "-4375" "0" "c.-4375G>C" "r.(?)" "p.(=)" "" "0000856655" "00000574" "30" "334" "0" "354" "0" "c.334_354del" "r.(?)" "p.(Gly113_Arg119del)" "" "0000856655" "00025598" "30" "334" "0" "354" "0" "c.334_354del" "r.(?)" "p.(Gly113_Arg119del)" "" "0000856656" "00000574" "30" "2852" "0" "2852" "0" "c.*2054G>A" "r.(=)" "p.(=)" "" "0000856656" "00025598" "30" "2852" "0" "2852" "0" "c.*2054G>A" "r.(=)" "p.(=)" "" "0000867414" "00000574" "50" "563" "0" "563" "0" "c.563C>G" "r.(?)" "p.(Pro188Arg)" "" "0000867414" "00025598" "50" "563" "0" "563" "0" "c.563C>G" "r.(?)" "p.(Pro188Arg)" "" "0000867415" "00000574" "30" "2633" "0" "2633" "0" "c.*1835G>A" "r.(=)" "p.(=)" "" "0000867415" "00025598" "30" "2633" "0" "2633" "0" "c.*1835G>A" "r.(=)" "p.(=)" "" "0000896264" "00000574" "30" "-3023" "0" "-3023" "0" "c.-3023G>A" "r.(?)" "p.(=)" "" "0000896264" "00025598" "30" "-3421" "0" "-3421" "0" "c.-3421G>A" "r.(?)" "p.(=)" "" "0000927385" "00000574" "50" "1133" "0" "1133" "0" "c.*335A>T" "r.(=)" "p.(=)" "" "0000927385" "00025598" "50" "1133" "0" "1133" "0" "c.*335A>T" "r.(=)" "p.(=)" "" "0000984718" "00000574" "10" "2633" "0" "2633" "0" "c.*1835G>A" "r.(=)" "p.(=)" "" "0000984718" "00025598" "10" "2633" "0" "2633" "0" "c.*1835G>A" "r.(=)" "p.(=)" "" "0001006792" "00000574" "50" "146" "0" "146" "0" "c.146C>T" "r.(?)" "p.(Pro49Leu)" "" "0001006792" "00025598" "50" "146" "0" "146" "0" "c.146C>T" "r.(?)" "p.(Pro49Leu)" "" "0001006793" "00000574" "50" "263" "0" "263" "0" "c.263C>T" "r.(?)" "p.(Ser88Leu)" "" "0001006793" "00025598" "50" "263" "0" "263" "0" "c.263C>T" "r.(?)" "p.(Ser88Leu)" "" "0001006794" "00000574" "10" "334" "0" "354" "0" "c.334_354del" "r.(?)" "p.(Gly113_Arg119del)" "" "0001006794" "00025598" "10" "334" "0" "354" "0" "c.334_354del" "r.(?)" "p.(Gly113_Arg119del)" "" "0001006795" "00000574" "50" "397" "0" "397" "0" "c.397C>G" "r.(?)" "p.(Arg133Gly)" "" "0001006795" "00025598" "50" "397" "0" "397" "0" "c.397C>G" "r.(?)" "p.(Arg133Gly)" "" "0001006796" "00000574" "30" "457" "0" "457" "0" "c.457A>G" "r.(?)" "p.(Arg153Gly)" "" "0001006796" "00025598" "30" "457" "0" "457" "0" "c.457A>G" "r.(?)" "p.(Arg153Gly)" "" "0001027508" "00000574" "50" "578" "-2" "578" "-2" "c.578-2A>G" "r.spl?" "p.?" "" "0001027508" "00025598" "50" "578" "-2" "578" "-2" "c.578-2A>G" "r.spl?" "p.?" "" "0001027509" "00000574" "30" "2852" "0" "2852" "0" "c.*2054G>A" "r.(=)" "p.(=)" "" "0001027509" "00025598" "30" "2852" "0" "2852" "0" "c.*2054G>A" "r.(=)" "p.(=)" "" "0001044364" "00000574" "50" "1145" "0" "1145" "0" "c.*347C>G" "r.(=)" "p.(=)" "" "0001044364" "00025598" "50" "1145" "0" "1145" "0" "c.*347C>G" "r.(=)" "p.(=)" "" "0001046867" "00000574" "50" "308" "0" "349" "0" "c.308_349del" "r.(?)" "p.(Leu103_Lys116del)" "" "0001046867" "00025598" "50" "308" "0" "349" "0" "c.308_349del" "r.(?)" "p.(Leu103_Lys116del)" "" "0001047047" "00000574" "70" "459" "0" "462" "0" "c.459_462del" "r.(?)" "p.(Arg153Serfs*41)" "5" "0001049048" "00000574" "90" "459" "0" "462" "0" "c.459_462del" "r.(?)" "p.(Arg153SerfsTer41)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000000209" "0000001926" "0000000209" "0000002954" "0000000209" "0000002955" "0000000209" "0000006830" "0000000210" "0000008904" "0000000210" "0000008905" "0000000210" "0000010953" "0000050352" "0000079332" "0000173527" "0000393386" "0000173528" "0000393387" "0000181064" "0000404700" "0000184074" "0000408043" "0000184119" "0000408088" "0000297899" "0000660599" "0000308901" "0000683335" "0000308902" "0000683336" "0000328263" "0000712203" "0000467737" "0001047047" "0000468954" "0001049048"