### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MAGEB2) # 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}}" "MAGEB2" "melanoma antigen family B, 2" "X" "p21.3" "unknown" "NG_013246.1" "UD_132119046120" "" "https://www.LOVD.nl/MAGEB2" "" "1" "6809" "4113" "300098" "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/MAGEB2_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2018-10-12 11:00:34" "00000" "2020-07-17 21:28:54" ## 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}}" "00000509" "MAGEB2" "melanoma antigen family B, 2" "001" "NM_002364.4" "" "NP_002355.2" "" "" "" "-103" "1509" "960" "30233675" "30238206" "00000" "2012-09-13 12:25:52" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{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)" "" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-10-24 17:14:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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" "" "" "" "" "00172447" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172448" "" "" "" "185" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172449" "" "" "" "59" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172450" "" "" "" "74" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172451" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172452" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00181202" "" "" "" "1" "" "01836" "" "" "M" "no" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00172447" "00187" "00172448" "00187" "00172449" "00187" "00172450" "00187" "00172451" "00187" "00172452" "00187" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 01157 ## Count = 8 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "0000137311" "00187" "00172447" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137312" "00187" "00172448" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137313" "00187" "00172449" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137314" "00187" "00172450" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137315" "00187" "00172451" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137316" "00187" "00172452" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{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" "" "" "0000173330" "00172447" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173331" "00172448" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000173332" "00172449" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000173333" "00172450" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000173334" "00172451" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173335" "00172452" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000182160" "00181202" "1" "01836" "01836" "2018-10-04 10:48:11" "" "" "SEQ-NG" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000173330" "MAGEB2" "0000173331" "MAGEB2" "0000173332" "MAGEB2" "0000173333" "MAGEB2" "0000173334" "MAGEB2" "0000173335" "MAGEB2" "0000182160" "BCOR" "0000182160" "FAAH2" "0000182160" "MAGEB2" "0000182160" "NNAT" ## 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 = 32 "{{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}}" "0000001847" "20" "50" "X" "30237835" "30237835" "dup" "0" "00037" "MAGEB2_000001" "g.30237835dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.30219718dup" "" "VUS" "" "0000002861" "0" "50" "X" "30237835" "30237835" "dup" "0" "00037" "MAGEB2_000022" "g.30237835dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.30219718dup" "" "VUS" "" "0000006520" "20" "50" "X" "30236658" "30236658" "subst" "0.354299" "00037" "MAGEB2_000010" "g.30236658T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.30218541T>C" "" "VUS" "" "0000006521" "20" "50" "X" "30236878" "30236878" "subst" "0.919889" "00037" "MAGEB2_000013" "g.30236878G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.30218761G>A" "" "VUS" "" "0000006522" "20" "50" "X" "30236913" "30236913" "subst" "0.223144" "00037" "MAGEB2_000016" "g.30236913G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.30218796G>A" "" "VUS" "" "0000006523" "20" "50" "X" "30237003" "30237003" "subst" "0.347861" "00037" "MAGEB2_000019" "g.30237003C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.30218886C>T" "" "VUS" "" "0000006524" "20" "50" "X" "30238026" "30238026" "subst" "0" "00037" "MAGEB2_000004" "g.30238026G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.30219909G>A" "" "VUS" "" "0000006525" "20" "50" "X" "30238090" "30238090" "subst" "0" "00037" "MAGEB2_000007" "g.30238090T>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.30219973T>G" "" "VUS" "" "0000008579" "20" "50" "X" "30236658" "30236658" "subst" "0.354299" "00037" "MAGEB2_000010" "g.30236658T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.30218541T>C" "" "VUS" "" "0000008580" "20" "50" "X" "30236878" "30236878" "subst" "0.919889" "00037" "MAGEB2_000013" "g.30236878G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.30218761G>A" "" "VUS" "" "0000008581" "20" "50" "X" "30236913" "30236913" "subst" "0.223144" "00037" "MAGEB2_000016" "g.30236913G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.30218796G>A" "" "VUS" "" "0000008582" "20" "50" "X" "30237003" "30237003" "subst" "0.347861" "00037" "MAGEB2_000019" "g.30237003C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.30218886C>T" "" "VUS" "" "0000008583" "0" "50" "X" "30237835" "30237835" "dup" "0" "00037" "MAGEB2_000001" "g.30237835dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.30219718dup" "" "VUS" "" "0000008584" "0" "50" "X" "30237834" "30237835" "dup" "0" "00037" "MAGEB2_000003" "g.30237834_30237835dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.30219717_30219718dup" "" "VUS" "" "0000008585" "20" "50" "X" "30238026" "30238026" "subst" "0" "00037" "MAGEB2_000004" "g.30238026G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.30219909G>A" "" "VUS" "" "0000008586" "20" "50" "X" "30238090" "30238090" "subst" "0" "00037" "MAGEB2_000007" "g.30238090T>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.30219973T>G" "" "VUS" "" "0000010860" "0" "50" "X" "30237835" "30237835" "dup" "0" "00037" "MAGEB2_000022" "g.30237835dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.30219718dup" "" "VUS" "" "0000010861" "0" "50" "X" "30237834" "30237835" "dup" "0" "00037" "MAGEB2_000023" "g.30237834_30237835dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.30219717_30219718dup" "" "VUS" "" "0000333558" "0" "50" "X" "30236732" "30236732" "subst" "0.0000456134" "01804" "MAGEB2_000024" "g.30236732G>A" "" "" "" "MAGEB2(NM_002364.4):c.35G>A (p.(Arg12His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30218615G>A" "" "VUS" "" "0000333560" "0" "50" "X" "30236744" "30236744" "subst" "0.000329489" "01804" "MAGEB2_000026" "g.30236744G>T" "" "" "" "MAGEB2(NM_002364.4):c.47G>T (p.(Arg16Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30218627G>T" "" "VUS" "" "0000393187" "1" "50" "X" "30236815" "30236815" "subst" "0.0000182826" "00124" "MAGEB2_000029" "g.30236815T>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.30218698T>A" "" "VUS" "" "0000393188" "1" "50" "X" "30236878" "30236878" "subst" "0.919889" "00124" "MAGEB2_000013" "g.30236878G>A" "185/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "recurrent, found 185 times" "Germline" "" "" "0" "" "" "g.30218761G>A" "" "VUS" "" "0000393189" "1" "30" "X" "30236913" "30236913" "subst" "0.223144" "00124" "MAGEB2_000016" "g.30236913G>A" "59/208 cases" "{PMID:Tarpey 2009:19377476}" "" "A72A" "recurrent, found 59 times" "Germline" "" "" "0" "" "" "g.30218796G>A" "" "likely benign" "" "0000393190" "1" "30" "X" "30237003" "30237003" "subst" "0.347861" "00124" "MAGEB2_000019" "g.30237003C>T" "74/208 cases" "{PMID:Tarpey 2009:19377476}" "" "S102S" "recurrent, found 74 times" "Germline" "" "" "0" "" "" "g.30218886C>T" "" "likely benign" "" "0000393191" "1" "50" "X" "30237395" "30237395" "subst" "0.0000224149" "00124" "MAGEB2_000030" "g.30237395A>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.30219278A>T" "" "VUS" "" "0000393192" "1" "30" "X" "30237517" "30237517" "subst" "0.0000615739" "00124" "MAGEB2_000031" "g.30237517C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "L274L" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.30219400C>T" "" "likely benign" "" "0000406030" "0" "50" "X" "30236992" "30236992" "subst" "0" "01836" "MAGEB2_000028" "g.30236992G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.30218875G>A" "" "VUS" "" "0000575498" "0" "30" "X" "30236729" "30236729" "subst" "0" "01943" "MAGEB2_000032" "g.30236729C>G" "" "" "" "MAGEB2(NM_002364.4):c.32C>G (p.A11G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30218612C>G" "" "likely benign" "" "0000575500" "0" "30" "X" "30237196" "30237196" "subst" "0.000285899" "01943" "MAGEB2_000034" "g.30237196G>C" "" "" "" "MAGEB2(NM_002364.4):c.499G>C (p.E167Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30219079G>C" "" "likely benign" "" "0000575501" "0" "30" "X" "30237220" "30237220" "subst" "0.000114576" "01943" "MAGEB2_000035" "g.30237220G>A" "" "" "" "MAGEB2(NM_002364.4):c.523G>A (p.G175S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30219103G>A" "" "likely benign" "" "0000575502" "0" "30" "X" "30237590" "30237590" "subst" "0.0000168285" "01943" "MAGEB2_000036" "g.30237590C>A" "" "" "" "MAGEB2(NM_002364.4):c.893C>A (p.T298N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30219473C>A" "" "likely benign" "" "0000619450" "0" "50" "X" "30237625" "30237625" "subst" "0.0000174197" "01943" "MAGEB2_000038" "g.30237625G>A" "" "" "" "MAGEB2(NM_002364.4):c.928G>A (p.A310T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30219508G>A" "" "VUS" "" ## 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 MAGEB2 ## Count = 32 "{{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}}" "0000001847" "00000509" "50" "1138" "0" "1138" "0" "c.*178dup" "r.(=)" "p.(=)" "" "0000002861" "00000509" "50" "1138" "0" "1138" "0" "c.*178dup" "r.(=)" "p.(=)" "" "0000006520" "00000509" "50" "-5" "-35" "-5" "-35" "c.-5-35T>C" "r.(=)" "p.(=)" "" "0000006521" "00000509" "50" "181" "0" "181" "0" "c.181G>A" "r.(?)" "p.(Glu61Lys)" "" "0000006522" "00000509" "50" "216" "0" "216" "0" "c.216G>A" "r.(?)" "p.(=)" "" "0000006523" "00000509" "50" "306" "0" "306" "0" "c.306C>T" "r.(?)" "p.(=)" "" "0000006524" "00000509" "50" "1329" "0" "1329" "0" "c.*369G>A" "r.(=)" "p.(=)" "" "0000006525" "00000509" "50" "1393" "0" "1393" "0" "c.*433T>G" "r.(=)" "p.(=)" "" "0000008579" "00000509" "50" "-5" "-35" "-5" "-35" "c.-5-35T>C" "r.(=)" "p.(=)" "" "0000008580" "00000509" "50" "181" "0" "181" "0" "c.181G>A" "r.(?)" "p.(Glu61Lys)" "" "0000008581" "00000509" "50" "216" "0" "216" "0" "c.216G>A" "r.(?)" "p.(=)" "" "0000008582" "00000509" "50" "306" "0" "306" "0" "c.306C>T" "r.(?)" "p.(=)" "" "0000008583" "00000509" "50" "1138" "0" "1138" "0" "c.*178dup" "r.(=)" "p.(=)" "" "0000008584" "00000509" "50" "1137" "0" "1138" "0" "c.*177_*178dup" "r.(=)" "p.(=)" "" "0000008585" "00000509" "50" "1329" "0" "1329" "0" "c.*369G>A" "r.(=)" "p.(=)" "" "0000008586" "00000509" "50" "1393" "0" "1393" "0" "c.*433T>G" "r.(=)" "p.(=)" "" "0000010860" "00000509" "50" "1138" "0" "1138" "0" "c.*178dup" "r.(=)" "p.(=)" "" "0000010861" "00000509" "50" "1137" "0" "1138" "0" "c.*177_*178dup" "r.(=)" "p.(=)" "" "0000333558" "00000509" "50" "35" "0" "35" "0" "c.35G>A" "r.(?)" "p.(Arg12His)" "" "0000333560" "00000509" "50" "47" "0" "47" "0" "c.47G>T" "r.(?)" "p.(Arg16Leu)" "" "0000393187" "00000509" "50" "118" "0" "118" "0" "c.118T>A" "r.(?)" "p.(Cys40Ser)" "" "0000393188" "00000509" "50" "181" "0" "181" "0" "c.181G>A" "r.(?)" "p.(Glu61Lys)" "" "0000393189" "00000509" "30" "216" "0" "216" "0" "c.216G>A" "r.(=)" "p.(=)" "" "0000393190" "00000509" "30" "306" "0" "306" "0" "c.306C>T" "r.(=)" "p.(=)" "" "0000393191" "00000509" "50" "698" "0" "698" "0" "c.698A>T" "r.(?)" "p.(Tyr233Phe)" "" "0000393192" "00000509" "30" "820" "0" "820" "0" "c.820C>T" "r.(=)" "p.(=)" "" "0000406030" "00000509" "50" "295" "0" "295" "0" "c.295G>A" "r.(?)" "p.(Ala99Thr)" "" "0000575498" "00000509" "30" "32" "0" "32" "0" "c.32C>G" "r.(?)" "p.(Ala11Gly)" "" "0000575500" "00000509" "30" "499" "0" "499" "0" "c.499G>C" "r.(?)" "p.(Glu167Gln)" "" "0000575501" "00000509" "30" "523" "0" "523" "0" "c.523G>A" "r.(?)" "p.(Gly175Ser)" "" "0000575502" "00000509" "30" "893" "0" "893" "0" "c.893C>A" "r.(?)" "p.(Thr298Asn)" "" "0000619450" "00000509" "50" "928" "0" "928" "0" "c.928G>A" "r.(?)" "p.(Ala310Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 25 "{{screeningid}}" "{{variantid}}" "0000000209" "0000001847" "0000000209" "0000002861" "0000000209" "0000006520" "0000000209" "0000006521" "0000000209" "0000006522" "0000000209" "0000006523" "0000000209" "0000006524" "0000000209" "0000006525" "0000000210" "0000008579" "0000000210" "0000008580" "0000000210" "0000008581" "0000000210" "0000008582" "0000000210" "0000008583" "0000000210" "0000008584" "0000000210" "0000008585" "0000000210" "0000008586" "0000000210" "0000010860" "0000000210" "0000010861" "0000173330" "0000393187" "0000173331" "0000393188" "0000173332" "0000393189" "0000173333" "0000393190" "0000173334" "0000393191" "0000173335" "0000393192" "0000182160" "0000406030"