### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TAB3) # 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}}" "TAB3" "TGF-beta activated kinase 1/MAP3K7 binding protein 3" "X" "p21.2" "unknown" "NG_012845.2" "UD_132118507978" "" "https://www.LOVD.nl/TAB3" "" "1" "30681" "257397" "300480" "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/TAB3_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2010-03-17 00:00:00" "00006" "2020-01-05 19:01:30" "00006" "2024-10-02 10:36:08" ## 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}}" "00000857" "TAB3" "TGF-beta activated kinase 1/MAP3K7 binding protein 3" "001" "NM_152787.3" "" "NP_690000.2" "" "" "" "-663" "6124" "2139" "30845559" "30907511" "00000" "2012-09-13 12:55:51" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "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" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "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 = 5 "{{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" "" "" "" "" "00173031" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00289438" "" "" "" "1" "" "00006" "{PMID:Heide 2015:25917374}" "" "F" "" "France" "" "0" "" "" "" "Pat1" "00455154" "" "" "" "4" "" "00006" "{PMID:Ma 2024:39285482}" "2-generation family, 2 carrier males and 2 carrier females" "F;M" "" "China" "" "0" "" "" "" "FamA" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00173031" "00187" "00289438" "00139" "00455154" "00000" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00187, 01157 ## Count = 5 "{{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" "" "" "" "" "" "" "" "0000137895" "00187" "00173031" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000223048" "00139" "00289438" "00006" "Isolated (sporadic)" "07y" "pregnancy marked by breakthrough bleeding during first trimester, prenatal ultrasound examination normal; birth 39w, normal measurements; neonatal period uneventful; sit-9m, walk-18m initially difficult with frequent falls; expressive language delayed; hyperopia, multiple serous otitis; 7y-WISC low scores intellectual quotient (50-63); 7y-normal growth height, weight and head circumference; able to write name, recognize alphabet letters; mild joint laxity, no dysmorphic features, no motor deficiency; normal serum CK level; ECG normal, cardiac ultrasound normal, MRI brain normal" "" "" "" "" "" "" "" "" "" "intellectual disability" "0000343745" "00000" "00455154" "00006" "Unknown" "" "2 brothers normal movement, normal walking, normal cognition, Gower’s sign, no bilateral pseudohypertrophy lower legs" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{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" "" "" "0000173914" "00173031" "1" "00124" "00006" "2009-04-08 14:01:02" "00002" "2010-03-17 11:18:00" "SEQ" "DNA" "" "" "0000290607" "00289438" "1" "00006" "00006" "2020-03-09 19:48:10" "" "" "arrayCNV" "DNA" "" "Illumina CytoSNP12 microarray" "0000456767" "00455154" "1" "00006" "00006" "2024-10-02 10:29:07" "" "" "MLPA;OM;PCR;SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000173914" "GPR112" "0000290607" "DMD" "0000456767" "DMD" ## 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 = 33 "{{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}}" "0000001850" "0" "50" "X" "30849040" "30849041" "dup" "0" "00037" "TAB3_000011" "g.30849040_30849041dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.30830923_30830924dup" "" "VUS" "" "0000001851" "0" "50" "X" "30849039" "30849041" "dup" "0" "00037" "TAB3_000012" "g.30849039_30849041dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.30830922_30830924dup" "" "VUS" "" "0000001852" "0" "50" "X" "30877508" "30877509" "dup" "0" "00037" "TAB3_000004" "g.30877508_30877509dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.30859391_30859392dup" "" "VUS" "" "0000002865" "0" "50" "X" "30849041" "30849041" "dup" "0" "00037" "TAB3_000021" "g.30849041dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.30830924dup" "" "VUS" "" "0000002866" "0" "50" "X" "30849040" "30849041" "dup" "0" "00037" "TAB3_000022" "g.30849040_30849041dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.30830923_30830924dup" "" "VUS" "" "0000002867" "0" "50" "X" "30851972" "30851972" "del" "0" "00037" "TAB3_000019" "g.30851972del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.30833855del" "" "VUS" "" "0000006547" "20" "50" "X" "30849176" "30849176" "subst" "0" "00037" "TAB3_000014" "g.30849176G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.30831059G>A" "" "VUS" "" "0000006548" "20" "50" "X" "30872602" "30872602" "subst" "0.999983" "00037" "TAB3_000001" "g.30872602A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.30854485=" "" "VUS" "" "0000006549" "20" "50" "X" "30889857" "30889857" "subst" "0" "00037" "TAB3_000007" "g.30889857A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.30871740A>G" "" "VUS" "" "0000008607" "0" "50" "X" "30849039" "30849041" "dup" "0" "00037" "TAB3_000012" "g.30849039_30849041dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.30830922_30830924dup" "" "VUS" "" "0000008608" "0" "50" "X" "30849041" "30849041" "dup" "0" "00037" "TAB3_000010" "g.30849041dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.30830924dup" "" "VUS" "" "0000008609" "20" "50" "X" "30849176" "30849176" "subst" "0" "00037" "TAB3_000014" "g.30849176G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.30831059G>A" "" "VUS" "" "0000008610" "20" "50" "X" "30872602" "30872602" "subst" "0.999983" "00037" "TAB3_000001" "g.30872602A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.30854485=" "" "VUS" "" "0000008611" "0" "50" "X" "30877508" "30877509" "dup" "0" "00037" "TAB3_000004" "g.30877508_30877509dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.30859391_30859392dup" "" "VUS" "" "0000008612" "20" "50" "X" "30889857" "30889857" "subst" "0" "00037" "TAB3_000007" "g.30889857A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.30871740A>G" "" "VUS" "" "0000010864" "20" "50" "X" "30849041" "30849041" "dup" "0" "00037" "TAB3_000021" "g.30849041dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.30830924dup" "" "VUS" "" "0000010865" "20" "50" "X" "30877508" "30877509" "dup" "0" "00037" "TAB3_000023" "g.30877508_30877509dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.30859391_30859392dup" "" "VUS" "" "0000010866" "0" "50" "X" "30877801" "30877801" "del" "0" "00037" "TAB3_000020" "g.30877801del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.30859684del" "" "VUS" "" "0000014512" "20" "50" "X" "30871916" "30871916" "subst" "0" "00037" "TAB3_000018" "g.30871916C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.30853799C>T" "" "VUS" "" "0000333576" "0" "50" "X" "30872571" "30872571" "subst" "3.9165E-5" "01804" "TAB3_000025" "g.30872571G>A" "" "" "" "TAB3(NM_152787.3):c.1211C>T (p.(Thr404Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30854454G>A" "" "VUS" "" "0000333577" "0" "50" "X" "30873066" "30873066" "subst" "0.00141143" "01804" "TAB3_000026" "g.30873066G>A" "" "" "" "TAB3(NM_152787.3):c.716C>T (p.(Ser239Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30854949G>A" "" "VUS" "" "0000333578" "0" "50" "X" "30873574" "30873574" "subst" "1.12608E-5" "01804" "TAB3_000027" "g.30873574G>A" "" "" "" "TAB3(NM_152787.3):c.208C>T (p.(Arg70Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30855457G>A" "" "VUS" "" "0000333579" "0" "50" "X" "30877796" "30877796" "subst" "0" "01804" "TAB3_000028" "g.30877796C>T" "" "" "" "TAB3(NM_152787.3):c.-90-1G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30859679C>T" "" "VUS" "" "0000333580" "0" "50" "X" "30877816" "30877816" "del" "0" "01804" "TAB3_000029" "g.30877816del" "" "" "" "TAB3(NM_152787.3):c.-90-9del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30859699del" "" "VUS" "" "0000394154" "1" "30" "X" "30877616" "30877616" "subst" "1.13501E-5" "00124" "TAB3_000030" "g.30877616C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "Q30Q" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.30859499C>T" "" "likely benign" "" "0000575536" "0" "30" "X" "30872700" "30872700" "subst" "8.95766E-5" "01804" "TAB3_000032" "g.30872700C>A" "" "" "" "TAB3(NM_152787.3):c.1082G>T (p.(Gly361Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30854583C>A" "" "likely benign" "" "0000575537" "0" "50" "X" "30873366" "30873366" "subst" "0" "01943" "TAB3_000033" "g.30873366G>T" "" "" "" "TAB3(NM_152787.4):c.416C>A (p.P139Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30855249G>T" "" "VUS" "" "0000575539" "0" "30" "X" "30877816" "30877816" "dup" "0" "01804" "TAB3_000035" "g.30877816dup" "" "" "" "TAB3(NM_152787.3):c.-90-9dup (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30859699dup" "" "likely benign" "" "0000624580" "0" "30" "X" "30852183" "30852183" "subst" "0" "01943" "TAB3_000036" "g.30852183C>T" "" "" "" "TAB3(NM_152787.4):c.1975G>A (p.A659T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30834066C>T" "" "likely benign" "" "0000647294" "0" "90" "X" "25878399" "31987991" "del" "0" "00006" "DMD_066683" "g.(25400000_25878399)_(31987991_32000000)del" "" "{PMID:Heide 2015:25917374}" "" "hg19 25878399_31987991del" "6.09 Mb deletion including IL1RAPL1, DAX1, GK and last 37 exons of DMD" "De novo" "" "" "0" "X-inactivation CpG island 5\' CAG repeat AR gene 59%:41%" "" "" "" "pathogenic (recessive)" "" "0000659261" "0" "30" "X" "30852234" "30852234" "subst" "1.6812E-5" "01804" "TAB3_000037" "g.30852234G>C" "" "" "" "TAB3(NM_152787.3):c.1924C>G (p.(Arg642Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30834117G>C" "" "likely benign" "" "0000693549" "0" "30" "X" "30873039" "30873039" "subst" "0.00012299" "01943" "TAB3_000038" "g.30873039G>A" "" "" "" "TAB3(NM_152787.4):c.743C>T (p.T248M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001011129" "21" "30" "X" "0" "0" "" "" "00006" "DMD_069031" "g.30904654_31256692[5]" "" "{PMID:Ma 2024:39285482}" "" "dup ex64-79" "insertion of 4 additional tandem copies (multi-copy duplication)" "Germline" "yes" "" "0" "" "" "g.30886537_31238575[5]" "" "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 TAB3 ## Count = 33 "{{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}}" "0000001850" "00000857" "50" "2652" "0" "2653" "0" "c.*513_*514dup" "r.(=)" "p.(=)" "" "0000001851" "00000857" "50" "2651" "0" "2653" "0" "c.*512_*514dup" "r.(=)" "p.(=)" "" "0000001852" "00000857" "50" "102" "125" "102" "126" "c.102+125_102+126dup" "r.(=)" "p.(=)" "" "0000002865" "00000857" "50" "2653" "0" "2653" "0" "c.*514dup" "r.(=)" "p.(=)" "" "0000002866" "00000857" "50" "2652" "0" "2653" "0" "c.*513_*514dup" "r.(=)" "p.(=)" "" "0000002867" "00000857" "50" "1990" "197" "1990" "197" "c.1990+197del" "r.(=)" "p.(=)" "" "0000006547" "00000857" "50" "2507" "0" "2507" "0" "c.*368C>T" "r.(=)" "p.(=)" "" "0000006548" "00000857" "50" "1180" "0" "1180" "0" "c.1180T>C" "r.(?)" "p.(Trp394Arg)" "" "0000006549" "00000857" "50" "-321" "0" "-321" "0" "c.-321T>C" "r.(?)" "p.(=)" "" "0000008607" "00000857" "50" "2651" "0" "2653" "0" "c.*512_*514dup" "r.(=)" "p.(=)" "" "0000008608" "00000857" "50" "2653" "0" "2653" "0" "c.*514dup" "r.(=)" "p.(=)" "" "0000008609" "00000857" "50" "2507" "0" "2507" "0" "c.*368C>T" "r.(=)" "p.(=)" "" "0000008610" "00000857" "50" "1180" "0" "1180" "0" "c.1180T>C" "r.(?)" "p.(Trp394Arg)" "" "0000008611" "00000857" "50" "102" "125" "102" "126" "c.102+125_102+126dup" "r.(=)" "p.(=)" "" "0000008612" "00000857" "50" "-321" "0" "-321" "0" "c.-321T>C" "r.(?)" "p.(=)" "" "0000010864" "00000857" "50" "2653" "0" "2653" "0" "c.*514dup" "r.(=)" "p.(=)" "" "0000010865" "00000857" "50" "102" "125" "102" "126" "c.102+125_102+126dup" "r.(=)" "p.(=)" "" "0000010866" "00000857" "50" "-90" "-4" "-90" "-4" "c.-90-4del" "r.spl?" "p.?" "" "0000014512" "00000857" "50" "1549" "317" "1549" "317" "c.1549+317G>A" "r.(=)" "p.(=)" "" "0000333576" "00000857" "50" "1211" "0" "1211" "0" "c.1211C>T" "r.(?)" "p.(Thr404Met)" "" "0000333577" "00000857" "50" "716" "0" "716" "0" "c.716C>T" "r.(?)" "p.(Ser239Leu)" "" "0000333578" "00000857" "50" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70Cys)" "" "0000333579" "00000857" "50" "-90" "-1" "-90" "-1" "c.-90-1G>A" "r.spl?" "p.?" "" "0000333580" "00000857" "50" "-90" "-7" "-90" "-7" "c.-90-7del" "r.(=)" "p.(=)" "" "0000394154" "00000857" "30" "90" "0" "90" "0" "c.90G>A" "r.(=)" "p.(=)" "" "0000575536" "00000857" "30" "1082" "0" "1082" "0" "c.1082G>T" "r.(?)" "p.(Gly361Val)" "" "0000575537" "00000857" "50" "416" "0" "416" "0" "c.416C>A" "r.(?)" "p.(Pro139Gln)" "" "0000575539" "00000857" "30" "-90" "-7" "-90" "-7" "c.-90-7dup" "r.(=)" "p.(=)" "" "0000624580" "00000857" "30" "1975" "0" "1975" "0" "c.1975G>A" "r.(?)" "p.(Ala659Thr)" "" "0000647294" "00000857" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000659261" "00000857" "30" "1924" "0" "1924" "0" "c.1924C>G" "r.(?)" "p.(Arg642Gly)" "" "0000693549" "00000857" "30" "743" "0" "743" "0" "c.743C>T" "r.(?)" "p.(Thr248Met)" "" "0001011129" "00000857" "30" "0" "0" "0" "0" "c.-663_-383+2577{5}" "r.(?)" "p.(=)" "_1_1i" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{variantid}}" "0000000209" "0000001850" "0000000209" "0000001851" "0000000209" "0000001852" "0000000209" "0000002865" "0000000209" "0000002866" "0000000209" "0000002867" "0000000209" "0000006547" "0000000209" "0000006548" "0000000209" "0000006549" "0000000210" "0000008607" "0000000210" "0000008608" "0000000210" "0000008609" "0000000210" "0000008610" "0000000210" "0000008611" "0000000210" "0000008612" "0000000210" "0000010864" "0000000210" "0000010865" "0000000210" "0000010866" "0000000210" "0000014512" "0000173914" "0000394154" "0000290607" "0000647294" "0000456767" "0001011129"