### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DRP2) # 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}}" "DRP2" "dystrophin related protein 2" "X" "q22" "unknown" "NG_016403.1" "UD_132119070225" "" "https://www.LOVD.nl/DRP2" "" "1" "3032" "1821" "300052" "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.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/DRP2_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2018-08-22 20:35:14" "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}}" "00000512" "DRP2" "transcript variant 1" "001" "NM_001939.2" "" "NP_001930.2" "" "" "" "-369" "6749" "2874" "100474933" "100519485" "00000" "2012-09-13 12:26:01" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02184" "XLA;AGMX1" "agammaglobulinemia, X-linked (XLA, agammaglobulinemia, X-linked, type 1 (AGMX-1))" "XLR" "300755" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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" "" "" "" "" "00173157" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173158" "" "" "" "7" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173159" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173160" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173161" "" "" "" "3" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173162" "" "" "" "19" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173163" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173418" "" "" "" "4" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00179460" "" "" "" "1" "" "00006" "{PMID:Arai 2011:21753765}" "" "M" "" "Japan" "" "0" "" "" "" "21753765-Pat2" "00179461" "" "" "" "1" "" "00006" "{PMID:Arai 2011:21753765}" "" "M" "" "Japan" "" "0" "" "" "" "21753765-Pat3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00173157" "00187" "00173158" "00187" "00173159" "00187" "00173160" "00187" "00173161" "00187" "00173162" "00187" "00173163" "00187" "00173418" "00187" "00179460" "02184" "00179461" "02184" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 01157, 02184 ## Count = 12 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/BCells}}" "{{Phenotype/BCells_surf_Ig}}" "{{Phenotype/CD19}}" "{{Phenotype/CD20}}" "{{Phenotype/Immunoglobulin/IgA}}" "{{Phenotype/Immunoglobulin/IgE}}" "{{Phenotype/Immunoglobulin/IgG}}" "{{Phenotype/Immunoglobulin/IgG/IgG1}}" "{{Phenotype/Immunoglobulin/IgG/IgG2}}" "{{Phenotype/Immunoglobulin/IgG/IgG3}}" "{{Phenotype/Immunoglobulin/IgG/IgG4}}" "{{Phenotype/Immunoglobulin/IgM}}" "{{Phenotype/Enzyme/Kinase}}" "{{Phenotype/CD3}}" "{{Phenotype/CD4}}" "{{Phenotype/CD8}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138021" "00187" "00173157" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000138022" "00187" "00173158" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000138023" "00187" "00173159" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000138024" "00187" "00173160" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000138025" "00187" "00173161" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000138026" "00187" "00173162" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000138027" "00187" "00173163" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000138282" "00187" "00173418" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000141946" "02184" "00179460" "00006" "Familial, X-linked recessive" "10y" "recurrent otitis media and sinusitis; 18m-deafness, autism; 8y-agammaglobulinemia, lack of circulating B cells" "01y" "" "08y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "recurrent otitis media and sinusitis" "0000141947" "02184" "00179461" "00006" "Familial, X-linked recessive" "" "agammaglobulinemia; 3y-sensorineural hearing loss" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{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" "" "" "0000174040" "00173157" "1" "00124" "00006" "2009-10-28 15:09:48" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" "" "0000174041" "00173158" "1" "00124" "00006" "2009-10-28 15:09:48" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" "" "0000174042" "00173159" "1" "00124" "00006" "2009-10-28 15:09:48" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" "" "0000174043" "00173160" "1" "00124" "00006" "2009-10-28 15:09:48" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" "" "0000174044" "00173161" "1" "00124" "00006" "2009-10-28 15:09:48" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" "" "0000174045" "00173162" "1" "00124" "00006" "2009-10-28 15:09:48" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" "" "0000174046" "00173163" "1" "00124" "00006" "2009-10-28 15:09:48" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" "" "0000174301" "00173418" "1" "00124" "00006" "2009-10-28 15:09:48" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" "" "0000180364" "00179460" "1" "00006" "00006" "2018-08-22 20:28:18" "" "" "arrayCGH;FISH;PCR" "DNA" "" "" "0000180365" "00179461" "1" "00006" "00006" "2018-08-22 20:59:13" "" "" "PCR;SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000174040" "DRP2" "0000174041" "DRP2" "0000174042" "GRIPAP1" "0000174043" "GRIPAP1" "0000174044" "GRIPAP1" "0000174045" "GRIPAP1" "0000174046" "HEPH" "0000174301" "MOSPD2" "0000180364" "BTK" "0000180365" "BTK" ## 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 = 90 "{{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}}" "0000002062" "20" "50" "X" "100509162" "100509163" "ins" "0" "00037" "DRP2_000006" "g.100509162_100509163insTT" "" "" "" "" "" "Germline" "" "" "" "" "" "g.101254173_101254174insTT" "" "VUS" "" "0000003104" "20" "50" "X" "100516334" "100516335" "dup" "0" "00037" "DRP2_000027" "g.100516334_100516335dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.101261345_101261346dup" "" "VUS" "" "0000007322" "20" "50" "X" "100490933" "100490933" "subst" "0.111017" "00037" "DRP2_000020" "g.100490933G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.101235944G>C" "" "VUS" "" "0000007323" "20" "50" "X" "100505617" "100505617" "subst" "0.3272" "00037" "DRP2_000023" "g.100505617G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.101250628G>C" "" "VUS" "" "0000007324" "20" "50" "X" "100511098" "100511098" "subst" "0.326558" "00037" "DRP2_000007" "g.100511098C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.101256109C>T" "" "VUS" "" "0000007325" "20" "50" "X" "100514753" "100514753" "subst" "0" "00037" "DRP2_000011" "g.100514753C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.101259764C>T" "" "VUS" "" "0000007326" "20" "50" "X" "100514986" "100514986" "subst" "0" "00037" "DRP2_000014" "g.100514986G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.101259997G>A" "" "VUS" "" "0000007327" "20" "50" "X" "100515332" "100515332" "subst" "0" "00037" "DRP2_000017" "g.100515332A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.101260343A>G" "" "VUS" "" "0000007328" "20" "50" "X" "100515792" "100515792" "subst" "0" "00037" "DRP2_000001" "g.100515792A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.101260803A>G" "" "VUS" "" "0000009427" "0" "50" "X" "100475298" "100475303" "dup" "0" "00037" "DRP2_000004" "g.100475298_100475303dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.101220309_101220314dup" "" "VUS" "" "0000009428" "0" "50" "X" "100475300" "100475303" "dup" "0" "00037" "DRP2_000005" "g.100475300_100475303dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.101220311_101220314dup" "" "VUS" "" "0000009429" "0" "50" "X" "100486333" "100486333" "subst" "0" "00037" "DRP2_000026" "g.100486333C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.101231344C>A" "" "VUS" "" "0000009430" "20" "50" "X" "100490933" "100490933" "subst" "0.111017" "00037" "DRP2_000020" "g.100490933G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.101235944G>C" "" "VUS" "" "0000009431" "20" "50" "X" "100505617" "100505617" "subst" "0.3272" "00037" "DRP2_000023" "g.100505617G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.101250628G>C" "" "VUS" "" "0000009432" "20" "50" "X" "100511098" "100511098" "subst" "0.326558" "00037" "DRP2_000007" "g.100511098C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.101256109C>T" "" "VUS" "" "0000009433" "20" "50" "X" "100514753" "100514753" "subst" "0" "00037" "DRP2_000011" "g.100514753C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.101259764C>T" "" "VUS" "" "0000009434" "20" "50" "X" "100514986" "100514986" "subst" "0" "00037" "DRP2_000014" "g.100514986G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.101259997G>A" "" "VUS" "" "0000009435" "20" "50" "X" "100515332" "100515332" "subst" "0" "00037" "DRP2_000017" "g.100515332A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.101260343A>G" "" "VUS" "" "0000009436" "20" "50" "X" "100515792" "100515792" "subst" "0" "00037" "DRP2_000001" "g.100515792A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.101260803A>G" "" "VUS" "" "0000011088" "20" "50" "X" "100509162" "100509163" "ins" "0" "00037" "DRP2_000006" "g.100509162_100509163insTT" "" "" "" "" "" "Germline" "" "" "" "" "" "g.101254173_101254174insTT" "" "VUS" "" "0000015297" "20" "50" "X" "100514628" "100514628" "subst" "0" "00037" "DRP2_000010" "g.100514628T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.101259639T>C" "" "VUS" "" "0000255928" "0" "50" "X" "100503208" "100503208" "subst" "0" "01943" "DRP2_000030" "g.100503208A>C" "" "" "" "DRP2(NM_001939.2):c.1383A>C (p.E461D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101248219A>C" "" "VUS" "" "0000275526" "0" "50" "X" "100509879" "100509879" "subst" "3.91659E-5" "01943" "DRP2_000031" "g.100509879G>A" "" "" "" "DRP2(NM_001939.2):c.2146G>A (p.D716N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101254890G>A" "" "VUS" "" "0000275527" "0" "50" "X" "100511153" "100511153" "subst" "0.00026463" "01943" "DRP2_000032" "g.100511153C>T" "" "" "" "DRP2(NM_001939.2):c.2293C>T (p.R765W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101256164C>T" "" "VUS" "" "0000275528" "0" "30" "X" "100513511" "100513511" "subst" "0" "01943" "DRP2_000033" "g.100513511G>A" "" "" "" "DRP2(NM_001939.2):c.2604G>A (p.Q868=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101258522G>A" "" "likely benign" "" "0000275529" "0" "50" "X" "100486722" "100486722" "del" "0" "01943" "DRP2_000028" "g.100486722del" "" "" "" "DRP2(NM_001939.2):c.86delG (p.S29Tfs*31), DRP2(NM_001939.3):c.86delG (p.S29Tfs*31)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101231733del" "" "VUS" "" "0000316201" "0" "30" "X" "100524197" "100524197" "subst" "0.00636659" "01943" "TAF7L_000037" "g.100524197C>T" "" "" "" "TAF7L(NM_001168474.1):c.1115G>A (p.(Arg372His)), TAF7L(NM_024885.3):c.1373G>A (p.R458H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101269209C>T" "" "likely benign" "" "0000400868" "1" "50" "X" "100500067" "100500067" "subst" "0" "00124" "DRP2_000042" "g.100500067G>C" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "IVS10+1G>C" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.101245078G>C" "" "VUS" "" "0000400869" "1" "50" "X" "100503284" "100503284" "subst" "0.0131811" "00124" "DRP2_000041" "g.100503284G>A" "7/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "recurrent, found 7 times" "Germline" "" "" "0" "" "" "g.101248295G>A" "" "VUS" "" "0000400870" "1" "50" "X" "100503565" "100503565" "subst" "0.00028031" "00124" "DRP2_000038" "g.100503565C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "T503M" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.101248576C>T" "" "VUS" "" "0000400871" "1" "50" "X" "100505962" "100505962" "subst" "0.00565852" "00124" "DRP2_000039" "g.100505962G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "E582E" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.101250973G>A" "" "VUS" "" "0000400872" "1" "50" "X" "100507675" "100507675" "subst" "0.00912384" "00124" "DRP2_000040" "g.100507675G>T" "3/208 cases" "{PMID:Tarpey 2009:19377476}" "" "L646L" "recurrent, found 3 times" "Germline" "" "" "0" "" "" "g.101252686G>T" "" "VUS" "" "0000400873" "1" "50" "X" "100490933" "100490933" "subst" "0.111017" "00124" "DRP2_000020" "g.100490933G>C" "19/208 cases" "{PMID:Tarpey 2009:19377476}" "" "V65L" "recurrent, found 19 times" "Germline" "" "" "0" "" "" "g.101235944G>C" "" "VUS" "" "0000400874" "1" "50" "X" "100493970" "100493970" "subst" "0.000939307" "00124" "DRP2_000037" "g.100493970G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "A144T" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.101238981G>A" "" "VUS" "" "0000400947" "1" "50" "X" "100490911" "100490911" "subst" "0.0120663" "00124" "DRP2_000036" "g.100490911C>A" "4/208 cases" "{PMID:Tarpey 2009:19377476}" "" "S57R" "recurrent, found 4 times" "Germline" "" "" "0" "" "" "g.101235922C>A" "" "VUS" "" "0000403842" "0" "90" "X" "100470587" "100620286" "del" "0" "00006" "BTK_000930" "g.100470587_100620286del" "" "{PMID:Arai 2011:21753765}" "" "" "149.7 kb deletion" "Germline" "" "" "0" "" "" "g.101215595_101365294del" "" "pathogenic (recessive)" "" "0000403843" "0" "90" "X" "100443248" "100639269" "del" "0" "00006" "BTK_000931" "g.100443248_100639269del" "" "{PMID:Arai 2011:21753765}" "" "" "196 kb deletion (sequences Fig.3 incorrect, top BTK, bottom DRP2, junction sequence?)" "Germline" "" "" "0" "" "" "g.101188262_101384283del" "" "pathogenic" "" "0000572539" "0" "10" "X" "100490911" "100490911" "subst" "0.0120663" "02330" "DRP2_000036" "g.100490911C>A" "" "" "" "DRP2(NM_001939.3):c.180C>A (p.S60R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101235922C>A" "" "benign" "" "0000572542" "0" "30" "X" "100492631" "100492631" "subst" "3.75183E-5" "01943" "DRP2_000044" "g.100492631A>G" "" "" "" "DRP2(NM_001939.2):c.305A>G (p.D102G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101237642A>G" "" "likely benign" "" "0000572543" "0" "10" "X" "100492773" "100492773" "subst" "0.0811013" "02330" "DRP2_000045" "g.100492773G>A" "" "" "" "DRP2(NM_001939.3):c.438+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101237784G>A" "" "benign" "" "0000572544" "0" "30" "X" "100493970" "100493970" "subst" "0.000939307" "01804" "DRP2_000037" "g.100493970G>A" "" "" "" "DRP2(NM_001171184.1):c.205G>A (p.(Ala69Thr)), DRP2(NM_001939.3):c.439G>A (p.A147T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101238981G>A" "" "likely benign" "" "0000572545" "0" "50" "X" "100500420" "100500420" "subst" "0" "01804" "DRP2_000046" "g.100500420G>A" "" "" "" "DRP2(NM_001171184.1):c.925G>A (p.(Glu309Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101245431G>A" "" "VUS" "" "0000572546" "0" "30" "X" "100503146" "100503146" "subst" "0.000251765" "01804" "DRP2_000047" "g.100503146G>A" "" "" "" "DRP2(NM_001171184.1):c.1087G>A (p.(Val363Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101248157G>A" "" "likely benign" "" "0000572547" "0" "30" "X" "100503284" "100503284" "subst" "0.0131811" "01804" "DRP2_000041" "g.100503284G>A" "" "" "" "DRP2(NM_001171184.1):c.1220+5G>A (p.?), DRP2(NM_001939.3):c.1454+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101248295G>A" "" "likely benign" "" "0000572548" "0" "50" "X" "100505912" "100505912" "subst" "0.000936383" "01943" "DRP2_000048" "g.100505912G>A" "" "" "" "DRP2(NM_001939.2):c.1705G>A (p.G569R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101250923G>A" "" "VUS" "" "0000572549" "0" "10" "X" "100505962" "100505962" "subst" "0.00565852" "02330" "DRP2_000039" "g.100505962G>A" "" "" "" "DRP2(NM_001939.3):c.1755G>A (p.E585=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101250973G>A" "" "benign" "" "0000572551" "0" "10" "X" "100511098" "100511098" "subst" "0.326558" "02330" "DRP2_000007" "g.100511098C>T" "" "" "" "DRP2(NM_001939.3):c.2247-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101256109C>T" "" "benign" "" "0000572552" "0" "50" "X" "100513417" "100513417" "subst" "0" "01943" "DRP2_000050" "g.100513417C>T" "" "" "" "DRP2(NM_001939.2):c.2510C>T (p.A837V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101258428C>T" "" "VUS" "" "0000572553" "0" "30" "X" "100524197" "100524197" "subst" "0.00636659" "01804" "TAF7L_000037" "g.100524197C>T" "" "" "" "TAF7L(NM_001168474.1):c.1115G>A (p.(Arg372His)), TAF7L(NM_024885.3):c.1373G>A (p.R458H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101269209C>T" "" "likely benign" "" "0000572554" "0" "30" "X" "100524212" "100524212" "subst" "0" "01943" "DRP2_000051" "g.100524212T>C" "" "" "" "TAF7L(NM_024885.3):c.1358A>G (p.Q453R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101269224T>C" "" "likely benign" "" "0000618685" "0" "10" "X" "100490933" "100490933" "subst" "0.111017" "02330" "DRP2_000020" "g.100490933G>C" "" "" "" "DRP2(NM_001939.3):c.202G>C (p.V68L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101235944G>C" "" "benign" "" "0000618686" "0" "50" "X" "100511151" "100511151" "subst" "5.8762E-6" "01943" "DRP2_000055" "g.100511151A>G" "" "" "" "DRP2(NM_001939.2):c.2291A>G (p.D764G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101256162A>G" "" "VUS" "" "0000624341" "0" "10" "X" "100492761" "100492761" "subst" "0.00400596" "02330" "DRP2_000052" "g.100492761T>C" "" "" "" "DRP2(NM_001939.3):c.435T>C (p.H145=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101237772T>C" "" "benign" "" "0000624342" "0" "50" "X" "100496666" "100496666" "subst" "5.65157E-6" "01943" "DRP2_000053" "g.100496666C>G" "" "" "" "DRP2(NM_001939.2):c.569C>G (p.P190R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101241677C>G" "" "VUS" "" "0000624343" "0" "30" "X" "100496715" "100496715" "subst" "2.24483E-5" "01943" "DRP2_000054" "g.100496715G>A" "" "" "" "DRP2(NM_001939.2):c.618G>A (p.T206=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101241726G>A" "" "likely benign" "" "0000624344" "0" "30" "X" "100513475" "100513475" "subst" "0.000719272" "02330" "DRP2_000056" "g.100513475C>T" "" "" "" "DRP2(NM_001939.3):c.2568C>T (p.L856=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101258486C>T" "" "likely benign" "" "0000659005" "0" "10" "X" "100503284" "100503284" "subst" "0.0131811" "02330" "DRP2_000041" "g.100503284G>A" "" "" "" "DRP2(NM_001171184.1):c.1220+5G>A (p.?), DRP2(NM_001939.3):c.1454+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101248295G>A" "" "benign" "" "0000659006" "0" "10" "X" "100507675" "100507675" "subst" "0.00912384" "02330" "DRP2_000040" "g.100507675G>T" "" "" "" "DRP2(NM_001939.3):c.1947G>T (p.L649=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101252686G>T" "" "benign" "" "0000681965" "0" "30" "X" "100486731" "100486731" "subst" "0.000152126" "01804" "DRP2_000057" "g.100486731G>A" "" "" "" "DRP2(NM_001939.2):c.95G>A (p.(Arg32Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681966" "0" "50" "X" "100496680" "100496680" "subst" "0" "02327" "DRP2_000058" "g.100496680C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681967" "0" "50" "X" "100515558" "100515558" "subst" "0" "02327" "DRP2_000059" "g.100515558T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693231" "0" "50" "X" "100496743" "100496743" "subst" "7.28512E-5" "01943" "DRP2_000060" "g.100496743A>G" "" "" "" "DRP2(NM_001939.2):c.646A>G (p.T216A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693232" "0" "30" "X" "100497329" "100497329" "subst" "2.84878E-5" "01943" "DRP2_000061" "g.100497329T>C" "" "" "" "DRP2(NM_001939.2):c.844T>C (p.F282L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728246" "0" "50" "X" "100486646" "100486646" "subst" "5.59973E-6" "02330" "DRP2_000062" "g.100486646A>G" "" "" "" "DRP2(NM_001939.3):c.10A>G (p.M4V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728247" "0" "50" "X" "100486722" "100486722" "del" "0" "02327" "DRP2_000028" "g.100486722del" "" "" "" "DRP2(NM_001939.2):c.86delG (p.S29Tfs*31), DRP2(NM_001939.3):c.86delG (p.S29Tfs*31)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728248" "0" "50" "X" "100496711" "100496711" "subst" "2.80777E-5" "01943" "DRP2_000063" "g.100496711C>T" "" "" "" "DRP2(NM_001939.2):c.614C>T (p.A205V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728249" "0" "50" "X" "100497936" "100497936" "subst" "0" "02330" "DRP2_000064" "g.100497936G>A" "" "" "" "DRP2(NM_001939.3):c.1019G>A (p.R340Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728250" "0" "30" "X" "100509875" "100509875" "subst" "6.71411E-5" "01943" "DRP2_000065" "g.100509875C>T" "" "" "" "DRP2(NM_001939.2):c.2142C>T (p.H714=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809706" "0" "30" "X" "100490866" "100490866" "subst" "0" "01943" "DRP2_000066" "g.100490866C>T" "" "" "" "DRP2(NM_001939.2):c.135C>T (p.T45=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809707" "0" "50" "X" "100490928" "100490928" "subst" "2.23949E-5" "01943" "DRP2_000067" "g.100490928G>A" "" "" "" "DRP2(NM_001939.2):c.197G>A (p.G66E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809708" "0" "30" "X" "100493970" "100493970" "subst" "0.000939307" "02330" "DRP2_000037" "g.100493970G>A" "" "" "" "DRP2(NM_001171184.1):c.205G>A (p.(Ala69Thr)), DRP2(NM_001939.3):c.439G>A (p.A147T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809709" "0" "50" "X" "100515075" "100515075" "subst" "0.000224103" "01943" "DRP2_000034" "g.100515075C>T" "" "" "" "DRP2(NM_001939.2):c.2666C>T (p.S889L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856219" "0" "50" "X" "100510223" "100510223" "subst" "5.6079E-6" "01943" "DRP2_000068" "g.100510223C>T" "" "" "" "DRP2(NM_001939.2):c.2231C>T (p.S744F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866930" "0" "30" "X" "100490926" "100490926" "subst" "5.5991E-5" "02330" "DRP2_000043" "g.100490926C>T" "" "" "" "DRP2(NM_001939.3):c.195C>T (p.N65=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895830" "0" "50" "X" "100492660" "100492660" "subst" "0" "02327" "DRP2_000069" "g.100492660C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895831" "0" "30" "X" "100494055" "100494055" "subst" "0.00130717" "02330" "DRP2_000029" "g.100494055T>G" "" "" "" "DRP2(NM_001939.3):c.524T>G (p.F175C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895832" "0" "50" "X" "100497372" "100497372" "subst" "5.61123E-6" "02327" "DRP2_000070" "g.100497372C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895833" "0" "10" "X" "100497889" "100497889" "subst" "0.00423367" "02330" "DRP2_000071" "g.100497889A>G" "" "" "" "DRP2(NM_001939.3):c.976-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000895834" "0" "10" "X" "100511236" "100511236" "subst" "0.00214919" "02330" "DRP2_000072" "g.100511236G>A" "" "" "" "DRP2(NM_001939.3):c.2376G>A (p.L792=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915575" "0" "10" "X" "100494077" "100494077" "subst" "0.00246461" "02330" "DRP2_000073" "g.100494077T>C" "" "" "" "DRP2(NM_001939.3):c.546T>C (p.H182=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915576" "0" "30" "X" "100507724" "100507724" "subst" "0.000218356" "02330" "DRP2_000074" "g.100507724G>A" "" "" "" "DRP2(NM_001939.3):c.1977+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915577" "0" "10" "X" "100513506" "100513506" "subst" "0.00090071" "02330" "DRP2_000075" "g.100513506C>T" "" "" "" "DRP2(NM_001939.3):c.2599C>T (p.L867=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000927231" "0" "50" "X" "100486722" "100486722" "del" "0" "02330" "DRP2_000028" "g.100486722del" "" "" "" "DRP2(NM_001939.2):c.86delG (p.S29Tfs*31), DRP2(NM_001939.3):c.86delG (p.S29Tfs*31)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000970560" "0" "50" "X" "100505543" "100505543" "subst" "2.33122E-5" "02325" "DRP2_000076" "g.100505543C>G" "" "" "" "DRP2(NM_001939.3):c.1672C>G (p.P558A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984341" "0" "50" "X" "100515152" "100515152" "subst" "0" "01804" "DRP2_000077" "g.100515152G>C" "" "" "" "DRP2(NM_001939.3):c.2743G>C (p.(Ala915Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006280" "0" "50" "X" "100497365" "100497365" "subst" "0" "01804" "DRP2_000078" "g.100497365G>T" "" "" "" "DRP2(NM_001939.2):c.880G>T (p.(Asp294Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006281" "0" "30" "X" "100511163" "100511163" "subst" "5.82364E-6" "01804" "DRP2_000079" "g.100511163C>G" "" "" "" "DRP2(NM_001939.2):c.2303C>G (p.(Ala768Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006282" "0" "30" "X" "100524198" "100524198" "subst" "0" "01804" "DRP2_000080" "g.100524198G>A" "" "" "" "TAF7L(NM_001168474.1):c.1114C>T (p.(Arg372Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043987" "0" "30" "X" "100497889" "100497889" "subst" "0.00423367" "01804" "DRP2_000071" "g.100497889A>G" "" "" "" "DRP2(NM_001939.3):c.976-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043988" "0" "30" "X" "100503287" "100503287" "subst" "0.00134741" "01804" "DRP2_000081" "g.100503287C>T" "" "" "" "DRP2(NM_001939.3):c.1454+8C>T" "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 DRP2 ## Count = 90 "{{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}}" "0000002062" "00000512" "50" "1978" "-252" "1978" "-251" "c.1978-252_1978-251insTT" "r.(=)" "p.(=)" "" "0000003104" "00000512" "50" "3598" "0" "3599" "0" "c.*724_*725dup" "r.(=)" "p.(=)" "" "0000007322" "00000512" "50" "202" "0" "202" "0" "c.202G>C" "r.(?)" "p.(Val68Leu)" "" "0000007323" "00000512" "50" "1698" "48" "1698" "48" "c.1698+48G>C" "r.(=)" "p.(=)" "" "0000007324" "00000512" "50" "2247" "-9" "2247" "-9" "c.2247-9C>T" "r.(=)" "p.(=)" "" "0000007325" "00000512" "50" "2629" "-285" "2629" "-285" "c.2629-285C>T" "r.(=)" "p.(=)" "" "0000007326" "00000512" "50" "2629" "-52" "2629" "-52" "c.2629-52G>A" "r.(=)" "p.(=)" "" "0000007327" "00000512" "50" "2750" "-154" "2750" "-154" "c.2750-154A>G" "r.(=)" "p.(=)" "" "0000007328" "00000512" "50" "3056" "0" "3056" "0" "c.*182A>G" "r.(=)" "p.(=)" "" "0000009427" "00000512" "50" "-167" "163" "-167" "168" "c.-167+163_-167+168dup" "r.(=)" "p.(=)" "" "0000009428" "00000512" "50" "-167" "165" "-167" "168" "c.-167+165_-167+168dup" "r.(=)" "p.(=)" "" "0000009429" "00000512" "50" "-63" "-241" "-63" "-241" "c.-63-241C>A" "r.(=)" "p.(=)" "" "0000009430" "00000512" "50" "202" "0" "202" "0" "c.202G>C" "r.(?)" "p.(Val68Leu)" "" "0000009431" "00000512" "50" "1698" "48" "1698" "48" "c.1698+48G>C" "r.(=)" "p.(=)" "" "0000009432" "00000512" "50" "2247" "-9" "2247" "-9" "c.2247-9C>T" "r.(=)" "p.(=)" "" "0000009433" "00000512" "50" "2629" "-285" "2629" "-285" "c.2629-285C>T" "r.(=)" "p.(=)" "" "0000009434" "00000512" "50" "2629" "-52" "2629" "-52" "c.2629-52G>A" "r.(=)" "p.(=)" "" "0000009435" "00000512" "50" "2750" "-154" "2750" "-154" "c.2750-154A>G" "r.(=)" "p.(=)" "" "0000009436" "00000512" "50" "3056" "0" "3056" "0" "c.*182A>G" "r.(=)" "p.(=)" "" "0000011088" "00000512" "50" "1978" "-252" "1978" "-251" "c.1978-252_1978-251insTT" "r.(=)" "p.(=)" "" "0000015297" "00000512" "50" "2629" "-410" "2629" "-410" "c.2629-410T>C" "r.(=)" "p.(=)" "" "0000255928" "00000512" "50" "1383" "0" "1383" "0" "c.1383A>C" "r.(?)" "p.(Glu461Asp)" "" "0000275526" "00000512" "50" "2146" "0" "2146" "0" "c.2146G>A" "r.(?)" "p.(Asp716Asn)" "" "0000275527" "00000512" "50" "2293" "0" "2293" "0" "c.2293C>T" "r.(?)" "p.(Arg765Trp)" "" "0000275528" "00000512" "30" "2604" "0" "2604" "0" "c.2604G>A" "r.(?)" "p.(Gln868=)" "" "0000275529" "00000512" "50" "86" "0" "86" "0" "c.86del" "r.(?)" "p.(Ser29ThrfsTer31)" "" "0000316201" "00000512" "30" "11461" "0" "11461" "0" "c.*8587C>T" "r.(=)" "p.(=)" "" "0000400868" "00000512" "50" "1115" "1" "1115" "1" "c.1115+1G>C" "r.spl" "p.?" "10" "0000400869" "00000512" "50" "1454" "5" "1454" "5" "c.1454+5G>A" "r.spl?" "p.?" "13" "0000400870" "00000512" "50" "1517" "0" "1517" "0" "c.1517C>T" "r.(?)" "p.(Thr506Met)" "14" "0000400871" "00000512" "50" "1755" "0" "1755" "0" "c.1755G>A" "r.(=)" "p.(=)" "16" "0000400872" "00000512" "50" "1947" "0" "1947" "0" "c.1947G>T" "r.(=)" "p.(=)" "17" "0000400873" "00000512" "50" "202" "0" "202" "0" "c.202G>C" "r.(?)" "p.(Val68Leu)" "4" "0000400874" "00000512" "50" "439" "0" "439" "0" "c.439G>A" "r.(?)" "p.(Ala147Thr)" "5" "0000400947" "00000512" "50" "180" "0" "180" "0" "c.180C>A" "r.(?)" "p.(Ser60Arg)" "4" "0000403842" "00000512" "90" "-4715" "0" "107550" "0" "c.-4715_*104676del" "r.0" "p.0" "_1_24_" "0000403843" "00000512" "90" "-32054" "0" "126533" "0" "c.-32054_*123659del" "r.0" "p.0" "_1_24_" "0000572539" "00000512" "10" "180" "0" "180" "0" "c.180C>A" "r.(?)" "p.(Ser60Arg)" "" "0000572542" "00000512" "30" "305" "0" "305" "0" "c.305A>G" "r.(?)" "p.(Asp102Gly)" "" "0000572543" "00000512" "10" "438" "9" "438" "9" "c.438+9G>A" "r.(=)" "p.(=)" "" "0000572544" "00000512" "30" "439" "0" "439" "0" "c.439G>A" "r.(?)" "p.(Ala147Thr)" "" "0000572545" "00000512" "50" "1159" "0" "1159" "0" "c.1159G>A" "r.(?)" "p.(Glu387Lys)" "" "0000572546" "00000512" "30" "1321" "0" "1321" "0" "c.1321G>A" "r.(?)" "p.(Val441Met)" "" "0000572547" "00000512" "30" "1454" "5" "1454" "5" "c.1454+5G>A" "r.spl?" "p.?" "" "0000572548" "00000512" "50" "1705" "0" "1705" "0" "c.1705G>A" "r.(?)" "p.(Gly569Arg)" "" "0000572549" "00000512" "10" "1755" "0" "1755" "0" "c.1755G>A" "r.(?)" "p.(Glu585=)" "" "0000572551" "00000512" "10" "2247" "-9" "2247" "-9" "c.2247-9C>T" "r.(=)" "p.(=)" "" "0000572552" "00000512" "50" "2510" "0" "2510" "0" "c.2510C>T" "r.(?)" "p.(Ala837Val)" "" "0000572553" "00000512" "30" "11461" "0" "11461" "0" "c.*8587C>T" "r.(=)" "p.(=)" "" "0000572554" "00000512" "30" "11476" "0" "11476" "0" "c.*8602T>C" "r.(=)" "p.(=)" "" "0000618685" "00000512" "10" "202" "0" "202" "0" "c.202G>C" "r.(?)" "p.(Val68Leu)" "" "0000618686" "00000512" "50" "2291" "0" "2291" "0" "c.2291A>G" "r.(?)" "p.(Asp764Gly)" "" "0000624341" "00000512" "10" "435" "0" "435" "0" "c.435T>C" "r.(?)" "p.(His145=)" "" "0000624342" "00000512" "50" "569" "0" "569" "0" "c.569C>G" "r.(?)" "p.(Pro190Arg)" "" "0000624343" "00000512" "30" "618" "0" "618" "0" "c.618G>A" "r.(?)" "p.(Thr206=)" "" "0000624344" "00000512" "30" "2568" "0" "2568" "0" "c.2568C>T" "r.(?)" "p.(Leu856=)" "" "0000659005" "00000512" "10" "1454" "5" "1454" "5" "c.1454+5G>A" "r.spl?" "p.?" "" "0000659006" "00000512" "10" "1947" "0" "1947" "0" "c.1947G>T" "r.(?)" "p.(Leu649=)" "" "0000681965" "00000512" "30" "95" "0" "95" "0" "c.95G>A" "r.(?)" "p.(Arg32Gln)" "" "0000681966" "00000512" "50" "583" "0" "583" "0" "c.583C>T" "r.(?)" "p.(Gln195Ter)" "" "0000681967" "00000512" "50" "2822" "0" "2822" "0" "c.2822T>C" "r.(?)" "p.(Phe941Ser)" "" "0000693231" "00000512" "50" "646" "0" "646" "0" "c.646A>G" "r.(?)" "p.(Thr216Ala)" "" "0000693232" "00000512" "30" "844" "0" "844" "0" "c.844T>C" "r.(?)" "p.(Phe282Leu)" "" "0000728246" "00000512" "50" "10" "0" "10" "0" "c.10A>G" "r.(?)" "p.(Met4Val)" "" "0000728247" "00000512" "50" "86" "0" "86" "0" "c.86del" "r.(?)" "p.(Ser29ThrfsTer31)" "" "0000728248" "00000512" "50" "614" "0" "614" "0" "c.614C>T" "r.(?)" "p.(Ala205Val)" "" "0000728249" "00000512" "50" "1019" "0" "1019" "0" "c.1019G>A" "r.(?)" "p.(Arg340Gln)" "" "0000728250" "00000512" "30" "2142" "0" "2142" "0" "c.2142C>T" "r.(?)" "p.(His714=)" "" "0000809706" "00000512" "30" "135" "0" "135" "0" "c.135C>T" "r.(?)" "p.(Thr45=)" "" "0000809707" "00000512" "50" "197" "0" "197" "0" "c.197G>A" "r.(?)" "p.(Gly66Glu)" "" "0000809708" "00000512" "30" "439" "0" "439" "0" "c.439G>A" "r.(?)" "p.(Ala147Thr)" "" "0000809709" "00000512" "50" "2666" "0" "2666" "0" "c.2666C>T" "r.(?)" "p.(Ser889Leu)" "" "0000856219" "00000512" "50" "2231" "0" "2231" "0" "c.2231C>T" "r.(?)" "p.(Ser744Phe)" "" "0000866930" "00000512" "30" "195" "0" "195" "0" "c.195C>T" "r.(?)" "p.(Asn65=)" "" "0000895830" "00000512" "50" "334" "0" "334" "0" "c.334C>T" "r.(?)" "p.(Gln112*)" "" "0000895831" "00000512" "30" "524" "0" "524" "0" "c.524T>G" "r.(?)" "p.(Phe175Cys)" "" "0000895832" "00000512" "50" "887" "0" "887" "0" "c.887C>T" "r.(?)" "p.(Ala296Val)" "" "0000895833" "00000512" "10" "976" "-4" "976" "-4" "c.976-4A>G" "r.spl?" "p.?" "" "0000895834" "00000512" "10" "2376" "0" "2376" "0" "c.2376G>A" "r.(?)" "p.(Leu792=)" "" "0000915575" "00000512" "10" "546" "0" "546" "0" "c.546T>C" "r.(?)" "p.(His182=)" "" "0000915576" "00000512" "30" "1977" "19" "1977" "19" "c.1977+19G>A" "r.(=)" "p.(=)" "" "0000915577" "00000512" "10" "2599" "0" "2599" "0" "c.2599C>T" "r.(?)" "p.(Leu867=)" "" "0000927231" "00000512" "50" "86" "0" "86" "0" "c.86del" "r.(?)" "p.(Ser29ThrfsTer31)" "" "0000970560" "00000512" "50" "1672" "0" "1672" "0" "c.1672C>G" "r.(?)" "p.(Pro558Ala)" "" "0000984341" "00000512" "50" "2743" "0" "2743" "0" "c.2743G>C" "r.(?)" "p.(Ala915Pro)" "" "0001006280" "00000512" "50" "880" "0" "880" "0" "c.880G>T" "r.(?)" "p.(Asp294Tyr)" "" "0001006281" "00000512" "30" "2303" "0" "2303" "0" "c.2303C>G" "r.(?)" "p.(Ala768Gly)" "" "0001006282" "00000512" "30" "11462" "0" "11462" "0" "c.*8588G>A" "r.(=)" "p.(=)" "" "0001043987" "00000512" "30" "976" "-4" "976" "-4" "c.976-4A>G" "r.spl?" "p.?" "" "0001043988" "00000512" "30" "1454" "8" "1454" "8" "c.1454+8C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 31 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002062" "0000000209" "0000003104" "0000000209" "0000007322" "0000000209" "0000007323" "0000000209" "0000007324" "0000000209" "0000007325" "0000000209" "0000007326" "0000000209" "0000007327" "0000000209" "0000007328" "0000000210" "0000009427" "0000000210" "0000009428" "0000000210" "0000009429" "0000000210" "0000009430" "0000000210" "0000009431" "0000000210" "0000009432" "0000000210" "0000009433" "0000000210" "0000009434" "0000000210" "0000009435" "0000000210" "0000009436" "0000000210" "0000011088" "0000000210" "0000015297" "0000174040" "0000400868" "0000174041" "0000400869" "0000174042" "0000400870" "0000174043" "0000400871" "0000174044" "0000400872" "0000174045" "0000400873" "0000174046" "0000400874" "0000174301" "0000400947" "0000180364" "0000403842" "0000180365" "0000403843"