### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MID1) # 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}}" "MID1" "midline 1 (Opitz/BBB syndrome)" "X" "p22" "unknown" "NG_008197.1" "UD_132118311482" "" "https://www.LOVD.nl/MID1" "" "1" "7095" "" "300552" "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." "" "" "" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2017-09-04 16:18:57" "00000" "2025-11-01 13:22:20" ## 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}}" "00000742" "MID1" "transcript variant 1" "004" "NM_000381.3" "" "NP_000372.1" "" "" "" "-401" "6062" "2004" "10413350" "10588674" "00000" "2012-09-13 12:50:48" "" "" ## 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" "00767" "GBBB1" "Opitz GBBB syndrome, type 1, X-linked (GBBB-1)" "XLR" "300000" "" "" "" "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" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MID1" "00139" "MID1" "00767" ## Individuals ## Do not remove or alter this header ## ## Count = 24 "{{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" "" "" "" "" "00036133" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036134" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036135" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036136" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036137" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036138" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036139" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036140" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00050526" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}, {PMID:Faundes 2018:29276005}" "family, affected mother/child" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00117951" "" "" "" "1" "" "00485" "" "positive family anamnesis, unaffected sister" "" "" "" "" "0" "" "" "" "" "00117952" "" "" "" "1" "" "00485" "" "sister of 43788, positive family anamnesis" "" "" "" "" "0" "" "" "" "" "00117953" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377467-Pat?" "00117954" "" "" "" "3" "" "00124" "{PMID:Tarpey 2009:19377476}" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377468-Pat?" "00117955" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377469-Pat?" "00144331" "" "" "" "2" "" "00006" "{PMID:Baskin 2014:25614876}" "2-generation family, 1 affected, heterozygous carrier mother" "F" "" "Canada" "" "0" "" "" "" "25614876-Pat3" "00294926" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294927" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305262" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00391499" "" "" "" "1" "" "02544" "" "" "" "" "" "" "" "" "" "" "" "00391500" "" "" "" "1" "" "02544" "" "" "" "" "" "" "" "" "" "" "" "00391501" "" "" "" "1" "" "02544" "" "" "" "" "" "" "" "" "" "" "" "00395575" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-1018" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 17 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00036135" "00198" "00036136" "00198" "00050526" "00198" "00117951" "00198" "00117952" "00198" "00117953" "00187" "00117954" "00187" "00117955" "00187" "00294926" "00198" "00294927" "00198" "00305262" "00198" "00391499" "00767" "00391500" "00767" "00391501" "00767" "00395575" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 00198, 00767, 01157, 04214 ## Count = 15 "{{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}}" "0000037138" "00198" "00050526" "00006" "Unknown" "" "bilateral cleft lip and palate, ventricular septal defect, aortic regurgitation, laryngomalacia, hypertelorism, upslanted palpebral fissure, widows peak" "" "" "" "" "" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "" "" "0000093329" "00198" "00117951" "00485" "Unknown" "" "hypospadia, inguinal hernia, strabismus convergens, distinct hypertelorism, telecanthus, broad bridge, nose tip slim alae, prominet glabella, smooth philtrum, frontal upsweep on forehead, right ear orthotop, left slightly rotated backwards and low-set" "" "" "" "" "" "" "" "" "" "" "" "" "0000093330" "00198" "00117952" "00485" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093331" "00187" "00117953" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093332" "00187" "00117954" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093333" "00187" "00117955" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000117103" "05378" "00144331" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "DMD" "dystrophy, muscular" "" "0000156363" "00198" "00036135" "01164" "Unknown" "" "Opitz BBB/ G syndrome" "" "" "" "" "" "" "" "" "" "" "Opitz GBBB syndrome" "" "0000156364" "00198" "00036136" "01164" "Unknown" "" "Opitz G/BBB syndrome" "" "" "" "" "" "" "" "" "" "" "Opitz GBBB syndrome" "" "0000284835" "00767" "00391499" "02544" "Familial, X-linked recessive" "" "Malformations of ventral midline" "" "" "" "" "" "" "" "" "" "" "suspected GBBB-1" "" "0000284836" "00767" "00391500" "02544" "Unknown" "" "Malformations of ventral midline" "" "" "" "" "" "" "" "" "" "GBBB-1" "suspected GBBB-1" "" "0000284837" "00767" "00391501" "02544" "Unknown" "" "Malformations of ventral midline" "" "" "" "" "" "" "" "" "" "GBBB-1" "suspected GBBB-1" "" "0000288773" "04214" "00395575" "00000" "Unknown" "" "astigmatism, early onset rod-cone dystrophy, hypermetropia, strabismus, global developmental delay, tip-toe gait, talipes equinovarus, anteverted nares, broad nasal tip, depressed nasal bridge, hypertelorism, long philtrum, low anterior hairline, narrow palate, retrognathia, thin vermilion border" "" "" "" "" "" "" "" "" "" "Early-onset retinitis pigmentosa, deletion syndrome" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 24 "{{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" "" "" "0000036203" "00036133" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036204" "00036134" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036205" "00036135" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036206" "00036136" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036207" "00036137" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036208" "00036138" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036209" "00036139" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036210" "00036140" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000050471" "00050526" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000118414" "00117951" "1" "00485" "00485" "2010-10-23 17:22:05" "" "" "SEQ" "DNA" "" "" "0000118415" "00117952" "1" "00485" "00485" "2010-10-23 17:22:05" "" "" "SEQ" "DNA" "" "" "0000118416" "00117953" "1" "00124" "00006" "2009-04-08 14:01:02" "" "" "SEQ" "DNA" "" "" "0000118417" "00117954" "1" "00124" "00006" "2009-04-08 14:01:02" "" "" "SEQ" "DNA" "" "" "0000118418" "00117955" "1" "00124" "00006" "2009-04-08 14:01:02" "" "" "SEQ" "DNA" "" "" "0000145191" "00144331" "1" "00006" "00006" "2017-12-09 11:25:51" "" "" "arrayCGH;SEQ" "DNA" "" "" "0000296094" "00294926" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296095" "00294927" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306391" "00305262" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000392741" "00391500" "1" "02544" "02544" "2021-11-17 09:30:40" "" "" "SEQ" "DNA" "blood" "" "0000392742" "00391501" "1" "02544" "02544" "2021-11-17 09:35:32" "" "" "SEQ" "DNA" "blood" "" "0000392743" "00391499" "1" "02544" "02544" "2021-11-17 09:39:48" "" "" "SEQ-NG-I" "DNA" "" "" "0000396813" "00395575" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "clinical exome sequencing | aCGH" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{geneid}}" "0000036203" "MID1" "0000036204" "MID1" "0000036205" "MID1" "0000036206" "MID1" "0000036207" "MID1" "0000036208" "MID1" "0000036209" "MID1" "0000036210" "MID1" "0000050471" "KMT2D" "0000050471" "MID1" "0000118414" "MID1" "0000118415" "MID1" "0000118416" "MID1" "0000118417" "MID1" "0000118418" "MID1" "0000145191" "DMD" "0000392741" "MID1" "0000392742" "MID1" "0000392743" "MID1" "0000396813" "NLGN4X" ## 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 = 113 "{{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}}" "0000001786" "0" "50" "X" "10491249" "10491249" "dup" "0" "00037" "MID1_000005" "g.10491249dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.10523209dup" "" "VUS" "" "0000002778" "0" "50" "X" "10416147" "10416147" "del" "0" "00037" "MID1_000013" "g.10416147del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.10448107del" "" "VUS" "" "0000002779" "0" "50" "X" "10533042" "10533042" "del" "0" "00037" "MID1_000015" "g.10533042del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.10565002del" "" "VUS" "" "0000002780" "0" "50" "X" "10533042" "10533043" "del" "0" "00037" "MID1_000017" "g.10533042_10533043del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.10565002_10565003del" "" "VUS" "" "0000006305" "20" "50" "X" "10469476" "10469476" "subst" "0.00644503" "00037" "MID1_000007" "g.10469476C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.10501436C>T" "" "VUS" "" "0000008364" "20" "50" "X" "10469476" "10469476" "subst" "0.00644503" "00037" "MID1_000007" "g.10469476C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.10501436C>T" "" "VUS" "" "0000008365" "0" "50" "X" "10491248" "10491249" "dup" "0" "00037" "MID1_000006" "g.10491248_10491249dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.10523208_10523209dup" "" "VUS" "" "0000010783" "0" "50" "X" "10416147" "10416147" "del" "0" "00037" "MID1_000013" "g.10416147del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.10448107del" "" "VUS" "" "0000010784" "0" "50" "X" "10533042" "10533043" "del" "0" "00037" "MID1_000017" "g.10533042_10533043del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.10565002_10565003del" "" "VUS" "" "0000010785" "0" "50" "X" "10533042" "10533042" "del" "0" "00037" "MID1_000015" "g.10533042del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.10565002del" "" "VUS" "" "0000014264" "0" "50" "X" "10468700" "10468700" "subst" "0" "00037" "MID1_000012" "g.10468700T>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.10500660T>G" "" "VUS" "" "0000063328" "1" "90" "X" "10491176" "10491176" "subst" "0" "01164" "MID1_000020" "g.10491176C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10523136C>A" "" "pathogenic" "" "0000063329" "1" "50" "X" "10442663" "10442663" "subst" "0" "01164" "MID1_000023" "g.10442663C>A" "" "" "" "" "PolyPhen-2: poss.damag. (PSIC: 0,7888)" "Germline" "" "" "0" "" "" "g.10474623C>A" "" "VUS" "" "0000063330" "1" "90" "X" "10535041" "10535054" "del" "0" "01164" "MID1_000021" "g.10535041_10535054del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10567001_10567014del" "" "pathogenic" "" "0000063331" "1" "90" "X" "10423082" "10423082" "subst" "5.60519E-6" "01164" "MID1_000025" "g.10423082G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10455042G>A" "" "pathogenic" "" "0000063332" "1" "10" "X" "10437792" "10437792" "subst" "0.0251689" "01164" "MID1_000001" "g.10437792G>A" "" "" "" "" "" "Germline" "" "rs16986145" "0" "" "" "g.10469752G>A" "" "benign" "" "0000063333" "1" "90" "X" "10463659" "10463659" "subst" "0" "01164" "MID1_000018" "g.10463659G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10495619G>A" "" "pathogenic" "" "0000063334" "1" "90" "X" "10423033" "10423036" "dup" "0" "01164" "MID1_000024" "g.10423033_10423036dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10454993_10454996dup" "" "pathogenic" "" "0000063335" "1" "50" "X" "10463873" "10463873" "subst" "0" "01164" "MID1_000019" "g.10463873T>G" "" "" "" "" "" "Germline" "" "rs41303177" "0" "" "" "g.10495833T>G" "" "VUS" "" "0000079451" "21" "90" "X" "10490988" "10491339" "dup" "0" "00006" "MID1_000026" "g.10490988_10491339dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "increased gene dosage" "Germline" "" "" "0" "" "" "g.10522948_10523299dup" "" "pathogenic" "" "0000194519" "1" "70" "X" "10535187" "10535187" "subst" "0" "00485" "MID1_000004" "g.10535187C>T" "" "" "" "" "unclassified variant" "Germline" "" "" "0" "" "" "g.10567147C>T" "" "likely pathogenic" "" "0000194520" "1" "70" "X" "10535187" "10535187" "subst" "0" "00485" "MID1_000004" "g.10535187C>T" "" "" "" "" "unclassified variant" "Germline" "" "" "0" "" "" "g.10567147C>T" "" "likely pathogenic" "" "0000194521" "1" "30" "X" "10463627" "10463627" "subst" "0.00131396" "00124" "MID1_000003" "g.10463627C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "G287G" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.10495587C>T" "" "likely benign" "" "0000194522" "1" "30" "X" "10437792" "10437792" "subst" "0.0251689" "00124" "MID1_000001" "g.10437792G>A" "3/208 cases" "{PMID:Tarpey 2009:19377476}" "" "S410S" "recurrent, found 3 times" "Germline" "" "" "0" "" "" "g.10469752G>A" "" "likely benign" "" "0000194523" "1" "30" "X" "10417495" "10417495" "subst" "0" "00124" "MID1_000002" "g.10417495G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "P639P" "found once, nonrecurrent change; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk" "Germline" "" "" "0" "" "" "g.10449455G>A" "" "likely benign" "" "0000236272" "0" "50" "X" "10435000" "10535588" "dup" "0" "00006" "MID1_000000" "g.(10435000_10417407)_(10535588_10917000)dup" "" "{PMID:Baskin 2014:25614876}" "" "" "496 kb duplication MID1" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000250718" "0" "10" "X" "10491249" "10491249" "del" "0" "02326" "MID1_000032" "g.10491249del" "" "" "" "MID1(NM_000381.3):c.661-7delT, MID1(NM_000381.3):c.661-7delT (p.(=)), MID1(NM_000381.4):c.661-7delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10523209del" "" "benign" "" "0000253070" "0" "10" "X" "10491249" "10491249" "del" "0" "01943" "MID1_000032" "g.10491249del" "" "" "" "MID1(NM_000381.3):c.661-7delT, MID1(NM_000381.3):c.661-7delT (p.(=)), MID1(NM_000381.4):c.661-7delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10523209del" "" "benign" "" "0000283677" "0" "50" "X" "10535077" "10535077" "subst" "0" "02329" "MID1_000034" "g.10535077G>A" "" "" "" "MID1(NM_000381.4):c.511C>T (p.R171W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10567037G>A" "" "VUS" "" "0000286584" "0" "10" "X" "10491233" "10491233" "subst" "0" "02326" "MID1_000031" "g.10491233C>A" "" "" "" "MID1(NM_000381.3):c.661-6G>T, MID1(NM_000381.3):c.661-6delinsT (p.(=)), MID1(NM_000381.4):c.661-6G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10523193C>A" "" "benign" "" "0000286585" "0" "10" "X" "10491249" "10491249" "dup" "0" "02326" "MID1_000005" "g.10491249dup" "" "" "" "MID1(NM_000381.3):c.661-7dup (p.(=)), MID1(NM_000381.4):c.661-7dupT, MID1(NM_001347733.1):c.661-7dupT, MID1(NM_001347733.2):c.661-7dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10523209dup" "" "benign" "" "0000291817" "0" "10" "X" "10491233" "10491233" "subst" "0" "01943" "MID1_000031" "g.10491233C>A" "" "" "" "MID1(NM_000381.3):c.661-6G>T, MID1(NM_000381.3):c.661-6delinsT (p.(=)), MID1(NM_000381.4):c.661-6G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10523193C>A" "" "benign" "" "0000333140" "0" "50" "X" "10417424" "10417424" "subst" "0.000264822" "01804" "MID1_000027" "g.10417424G>A" "" "" "" "MID1(NM_000381.3):c.1988C>T (p.T663I, p.(Thr663Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10449384G>A" "" "VUS" "" "0000333141" "0" "50" "X" "10437724" "10437724" "subst" "1.1223E-5" "01804" "MID1_000028" "g.10437724A>G" "" "" "" "MID1(NM_001193278.1):c.1451T>C (p.(Met484Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10469684A>G" "" "VUS" "" "0000333142" "0" "30" "X" "10469476" "10469476" "subst" "0.00644503" "01804" "MID1_000007" "g.10469476C>T" "" "" "" "MID1(NM_001193278.1):c.880G>A (p.(Glu294Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10501436C>T" "" "likely benign" "" "0000333144" "0" "50" "X" "10535000" "10535000" "subst" "0.0017568" "01804" "MID1_000033" "g.10535000G>C" "" "" "" "MID1(NM_000381.3):c.588C>G (p.A196=, p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10566960G>C" "" "VUS" "" "0000333147" "0" "50" "X" "10535325" "10535325" "subst" "0" "01804" "MID1_000037" "g.10535325T>C" "" "" "" "MID1(NM_000381.3):c.263A>G (p.(Lys88Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10567285T>C" "" "VUS" "" "0000339078" "0" "50" "X" "10535158" "10535158" "subst" "3.35833E-5" "02327" "MID1_000049" "g.10535158C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10567118C>T" "" "VUS" "" "0000341250" "0" "10" "X" "10535000" "10535000" "subst" "0.0017568" "02327" "MID1_000033" "g.10535000G>C" "" "" "" "MID1(NM_000381.3):c.588C>G (p.A196=, p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10566960G>C" "" "benign" "" "0000341320" "0" "30" "X" "10535512" "10535512" "subst" "0" "02327" "MID1_000050" "g.10535512C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10567472C>T" "" "likely benign" "" "0000342957" "0" "50" "X" "10427719" "10427719" "subst" "5.60903E-6" "02327" "MID1_000042" "g.10427719G>A" "" "" "" "MID1(NM_000381.3):c.1414C>T (p.R472C, p.(Arg472Cys)), MID1(NM_000381.4):c.1414C>T (p.R472C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10459679G>A" "" "VUS" "" "0000346083" "0" "90" "X" "10427779" "10427779" "subst" "0" "02327" "MID1_000043" "g.10427779C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10459739C>T" "" "pathogenic" "" "0000349832" "0" "90" "X" "10417660" "10417660" "subst" "0" "02327" "MID1_000039" "g.10417660C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10449620C>T" "" "pathogenic" "" "0000572788" "0" "10" "X" "10417412" "10417412" "subst" "0.00550639" "01943" "MID1_000051" "g.10417412G>A" "" "" "" "MID1(NM_000381.3):c.2000C>T (p.P667L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10449372G>A" "" "benign" "" "0000572789" "0" "30" "X" "10417424" "10417424" "subst" "0.000264822" "01943" "MID1_000027" "g.10417424G>A" "" "" "" "MID1(NM_000381.3):c.1988C>T (p.T663I, p.(Thr663Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10449384G>A" "" "likely benign" "" "0000572790" "0" "50" "X" "10417724" "10417724" "subst" "1.13234E-5" "01943" "MID1_000052" "g.10417724G>A" "" "" "" "MID1(NM_000381.3):c.1688C>T (p.P563L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10449684G>A" "" "VUS" "" "0000572791" "0" "50" "X" "10427719" "10427719" "subst" "5.60903E-6" "01943" "MID1_000042" "g.10427719G>A" "" "" "" "MID1(NM_000381.3):c.1414C>T (p.R472C, p.(Arg472Cys)), MID1(NM_000381.4):c.1414C>T (p.R472C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10459679G>A" "" "VUS" "" "0000572792" "0" "50" "X" "10427719" "10427719" "subst" "5.60903E-6" "02325" "MID1_000042" "g.10427719G>A" "" "" "" "MID1(NM_000381.3):c.1414C>T (p.R472C, p.(Arg472Cys)), MID1(NM_000381.4):c.1414C>T (p.R472C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10459679G>A" "" "VUS" "" "0000572793" "0" "30" "X" "10437590" "10437590" "subst" "0.0107668" "01804" "MID1_000053" "g.10437590C>G" "" "" "" "MID1(NM_001193278.1):c.1585G>C (p.(Ala529Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10469550C>G" "" "likely benign" "" "0000572794" "0" "50" "X" "10437791" "10437791" "subst" "0" "01943" "MID1_000054" "g.10437791C>T" "" "" "" "MID1(NM_000381.3):c.1231G>A (p.V411M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10469751C>T" "" "VUS" "" "0000572800" "0" "30" "X" "10469479" "10469479" "subst" "3.19088E-5" "01804" "MID1_000056" "g.10469479G>A" "" "" "" "MID1(NM_001193278.1):c.877C>T (p.R293C, p.(Arg293Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10501439G>A" "" "likely benign" "" "0000572801" "0" "50" "X" "10469556" "10469556" "subst" "0" "01804" "MID1_000057" "g.10469556T>C" "" "" "" "MID1(NM_001193278.1):c.800A>G (p.(Tyr267Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10501516T>C" "" "VUS" "" "0000572802" "0" "30" "X" "10474513" "10474513" "subst" "0.0233747" "01804" "MID1_000058" "g.10474513C>T" "" "" "" "MID1(NM_001193281.1):c.655G>A (p.(Val219Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10506473C>T" "" "likely benign" "" "0000572803" "0" "30" "X" "10491214" "10491214" "subst" "0" "01943" "MID1_000059" "g.10491214C>T" "" "" "" "MID1(NM_000381.3):c.674G>A (p.S225N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10523174C>T" "" "likely benign" "" "0000572804" "0" "90" "X" "10491228" "10491228" "subst" "0" "01943" "MID1_000060" "g.10491228C>A" "" "" "" "MID1(NM_000381.3):c.661-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10523188C>A" "" "pathogenic" "" "0000572806" "0" "30" "X" "10491232" "10491232" "subst" "0" "01804" "MID1_000062" "g.10491232T>A" "" "" "" "MID1(NM_000381.3):c.661-5A>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10523192T>A" "" "likely benign" "" "0000572808" "0" "30" "X" "10491233" "10491233" "subst" "0" "01804" "MID1_000031" "g.10491233C>A" "" "" "" "MID1(NM_000381.3):c.661-6G>T, MID1(NM_000381.3):c.661-6delinsT (p.(=)), MID1(NM_000381.4):c.661-6G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10523193C>A" "" "likely benign" "" "0000572809" "0" "30" "X" "10491233" "10491233" "del" "0" "01804" "MID1_000063" "g.10491233del" "" "" "" "MID1(NM_000381.3):c.661-6delG (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10523193del" "" "likely benign" "" "0000572810" "0" "30" "X" "10491249" "10491249" "del" "0" "01804" "MID1_000032" "g.10491249del" "" "" "" "MID1(NM_000381.3):c.661-7delT, MID1(NM_000381.3):c.661-7delT (p.(=)), MID1(NM_000381.4):c.661-7delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10523209del" "" "likely benign" "" "0000572811" "0" "30" "X" "10491249" "10491249" "dup" "0" "01804" "MID1_000005" "g.10491249dup" "" "" "" "MID1(NM_000381.3):c.661-7dup (p.(=)), MID1(NM_000381.4):c.661-7dupT, MID1(NM_001347733.1):c.661-7dupT, MID1(NM_001347733.2):c.661-7dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10523209dup" "" "likely benign" "" "0000572829" "0" "30" "X" "10535000" "10535000" "subst" "0.0017568" "01943" "MID1_000033" "g.10535000G>C" "" "" "" "MID1(NM_000381.3):c.588C>G (p.A196=, p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10566960G>C" "" "likely benign" "" "0000572830" "0" "30" "X" "10535489" "10535489" "subst" "0.000112384" "01943" "MID1_000064" "g.10535489G>A" "" "" "" "MID1(NM_001347733.1):c.99C>T (p.C33=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10567449G>A" "" "likely benign" "" "0000572832" "0" "30" "X" "10535513" "10535513" "subst" "0.00269575" "01943" "MID1_000065" "g.10535513G>A" "" "" "" "MID1(NM_000381.3):c.75C>T (p.C25=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10567473G>A" "" "likely benign" "" "0000618737" "0" "30" "X" "10423076" "10423076" "subst" "0.000364246" "01943" "MID1_000066" "g.10423076G>A" "" "" "" "MID1(NM_000381.3):c.1489C>T (p.L497=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10455036G>A" "" "likely benign" "" "0000618739" "0" "30" "X" "10469477" "10469477" "subst" "0.000297844" "01943" "MID1_000067" "g.10469477G>A" "" "" "" "MID1(NM_001193278.1):c.879C>T (p.R293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10501437G>A" "" "likely benign" "" "0000618746" "0" "30" "X" "10535359" "10535359" "subst" "0.000165092" "01943" "MID1_000068" "g.10535359C>T" "" "" "" "MID1(NM_000381.3):c.229G>A (p.(Val77Ile)), MID1(NM_001347733.1):c.229G>A (p.V77I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10567319C>T" "" "likely benign" "" "0000652783" "1" "50" "X" "10417412" "10417412" "subst" "0.00550639" "03575" "MID1_000051" "g.10417412G>A" "6/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 6 heterozygous; {DB:CLININrs147106995}" "Germline" "" "rs147106995" "0" "" "" "g.10449372G>A" "" "VUS" "" "0000652784" "1" "30" "X" "10423004" "10423004" "subst" "0.000526401" "03575" "MID1_000069" "g.10423004G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs149482288}" "Germline" "" "rs149482288" "0" "" "" "g.10454964G>A" "" "likely benign" "" "0000670079" "0" "50" "X" "10417412" "10417412" "subst" "0.00550639" "03575" "MID1_000051" "g.10417412G>A" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 4 homozygous; {DB:CLININrs147106995}" "Germline" "" "rs147106995" "0" "" "" "g.10449372G>A" "" "VUS" "" "0000681995" "0" "50" "X" "10437734" "10437734" "subst" "5.61271E-6" "02325" "MID1_000070" "g.10437734C>T" "" "" "" "MID1(NM_001193278.1):c.1441G>A (p.(Glu481Lys), p.E481K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693253" "0" "30" "X" "10423004" "10423004" "subst" "0.000526401" "02325" "MID1_000069" "g.10423004G>A" "" "" "" "MID1(NM_000381.4):c.1561C>T (p.R521C), MID1(NM_001347733.1):c.1561C>T (p.R521C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693254" "0" "70" "X" "10427691" "10427694" "dup" "0" "01804" "MID1_000072" "g.10427691_10427694dup" "" "" "" "MID1(NM_000381.3):c.1440_1443dupGACA (p.(Asn482Aspfs*7))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000693255" "0" "30" "X" "10427768" "10427768" "subst" "8.9822E-5" "01943" "MID1_000073" "g.10427768G>A" "" "" "" "MID1(NM_001347733.1):c.1365C>T (p.S455=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693256" "0" "30" "X" "10427786" "10427786" "subst" "2.80986E-5" "01943" "MID1_000074" "g.10427786C>T" "" "" "" "MID1(NM_001347733.1):c.1347G>A (p.T449=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693257" "0" "10" "X" "10491249" "10491249" "dup" "0" "01943" "MID1_000005" "g.10491249dup" "" "" "" "MID1(NM_000381.3):c.661-7dup (p.(=)), MID1(NM_000381.4):c.661-7dupT, MID1(NM_001347733.1):c.661-7dupT, MID1(NM_001347733.2):c.661-7dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000728277" "0" "90" "X" "10442702" "10442702" "subst" "0" "02327" "MID1_000075" "g.10442702G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000728281" "0" "90" "X" "10535136" "10535136" "subst" "0" "02327" "MID1_000076" "g.10535136G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000728282" "0" "70" "X" "10535155" "10535155" "subst" "0" "02327" "MID1_000077" "g.10535155A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000728283" "0" "50" "X" "10535482" "10535482" "subst" "0" "01943" "MID1_000078" "g.10535482G>A" "" "" "" "MID1(NM_001347733.1):c.106C>T (p.R36C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809743" "0" "30" "X" "10423004" "10423004" "subst" "0.000526401" "01943" "MID1_000069" "g.10423004G>A" "" "" "" "MID1(NM_000381.4):c.1561C>T (p.R521C), MID1(NM_001347733.1):c.1561C>T (p.R521C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809744" "0" "30" "X" "10427690" "10427690" "subst" "5.6152E-5" "01943" "MID1_000079" "g.10427690T>G" "" "" "" "MID1(NM_001347733.1):c.1443A>C (p.T481=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809745" "0" "30" "X" "10437756" "10437756" "subst" "0.00237544" "01943" "MID1_000080" "g.10437756G>A" "" "" "" "MID1(NM_001347733.1):c.1266C>T (p.T422=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809746" "0" "50" "X" "10469479" "10469479" "subst" "3.19088E-5" "01943" "MID1_000056" "g.10469479G>A" "" "" "" "MID1(NM_001193278.1):c.877C>T (p.R293C, p.(Arg293Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000823175" "0" "90" "X" "10463623" "10463623" "subst" "0" "02544" "MID1_000081" "g.10463623C>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10495583C>A" "" "pathogenic" "ACMG" "0000823176" "0" "90" "X" "10437736" "10437736" "subst" "0" "02544" "MID1_000082" "g.10437736C>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10469696C>A" "" "pathogenic" "" "0000823177" "0" "90" "X" "10427857" "10427857" "subst" "0" "02544" "MID1_000083" "g.10427857C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10459817C>T" "" "pathogenic" "" "0000828495" "0" "50" "X" "5748782" "10477366" "del" "0" "00000" "NLGN4X_000080" "g.5748782_10477366del" "" "{PMID:Perea-Romero 2021:34448047}" "" "chrX, g.5748782_10477366del, arr[GRCh37] Xp22.32p22.2(5748782-10477366)x1, heterozygous | heterozygous" "no gene indicated in publication!" "Germline" "yes" "" "0" "" "" "g.5830745_10559329del" "" "VUS" "ACMG" "0000856242" "0" "50" "X" "10437830" "10437830" "subst" "1.68837E-5" "01943" "MID1_000086" "g.10437830T>C" "" "" "" "MID1(NM_000381.4):c.1192A>G (p.T398A), MID1(NM_001347733.1):c.1192A>G (p.T398A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856243" "0" "50" "X" "10437869" "10437869" "subst" "1.69395E-5" "01943" "MID1_000087" "g.10437869G>C" "" "" "" "MID1(NM_001347733.1):c.1153C>G (p.P385A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856245" "0" "50" "X" "10463719" "10463719" "subst" "5.6078E-6" "01943" "MID1_000088" "g.10463719G>A" "" "" "" "MID1(NM_001347733.1):c.769C>T (p.R257C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856249" "0" "50" "X" "10535406" "10535406" "subst" "0" "01943" "MID1_000089" "g.10535406T>C" "" "" "" "MID1(NM_001347733.1):c.182A>G (p.H61R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866950" "0" "30" "X" "10417645" "10417645" "subst" "0.000246871" "01943" "MID1_000084" "g.10417645A>G" "" "" "" "MID1(NM_001347733.1):c.1767T>C (p.N589=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866951" "0" "30" "X" "10423024" "10423024" "subst" "0" "02327" "MID1_000085" "g.10423024T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895843" "0" "50" "X" "10442671" "10442671" "subst" "0" "02325" "MID1_000090" "g.10442671T>C" "" "" "" "MID1(NM_000381.4):c.1133A>G (p.Y378C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895844" "0" "50" "X" "10442789" "10442789" "subst" "0" "02327" "MID1_000091" "g.10442789C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895845" "0" "90" "X" "10450578" "10450579" "del" "0" "02327" "MID1_000092" "g.10450578_10450579del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000915581" "0" "50" "X" "10423039" "10423039" "subst" "0" "02325" "MID1_000093" "g.10423039T>C" "" "" "" "MID1(NM_000381.4):c.1526A>G (p.D509G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000970586" "0" "50" "X" "10437830" "10437830" "subst" "1.68837E-5" "02325" "MID1_000086" "g.10437830T>C" "" "" "" "MID1(NM_000381.4):c.1192A>G (p.T398A), MID1(NM_001347733.1):c.1192A>G (p.T398A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000970588" "0" "10" "X" "10491248" "10491249" "dup" "0" "02329" "MID1_000006" "g.10491248_10491249dup" "" "" "" "MID1(NM_001347733.2):c.661-8_661-7dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000970589" "0" "30" "X" "10491249" "10491249" "dup" "0" "02329" "MID1_000005" "g.10491249dup" "" "" "" "MID1(NM_000381.3):c.661-7dup (p.(=)), MID1(NM_000381.4):c.661-7dupT, MID1(NM_001347733.1):c.661-7dupT, MID1(NM_001347733.2):c.661-7dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984365" "0" "30" "X" "10463627" "10463627" "subst" "0.00131396" "01804" "MID1_000003" "g.10463627C>T" "" "" "" "MID1(NM_000381.4):c.861G>A (p.(Gly287=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984372" "0" "30" "X" "10699955" "10699955" "subst" "0" "01804" "MID1_000094" "g.10699955G>T" "" "" "" "MID1(NM_033290.4):c.-57+151718C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984374" "0" "30" "X" "10731424" "10731424" "subst" "0" "01804" "MID1_000095" "g.10731424C>T" "" "" "" "MID1(NM_033290.4):c.-57+120249G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006309" "0" "30" "X" "10427719" "10427719" "subst" "5.60903E-6" "01804" "MID1_000042" "g.10427719G>A" "" "" "" "MID1(NM_000381.3):c.1414C>T (p.R472C, p.(Arg472Cys)), MID1(NM_000381.4):c.1414C>T (p.R472C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006310" "0" "50" "X" "10463731" "10463731" "subst" "5.60963E-6" "01804" "MID1_000096" "g.10463731C>T" "" "" "" "MID1(NM_000381.3):c.757G>A (p.(Val253Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006311" "0" "30" "X" "10463737" "10463737" "subst" "7.29628E-5" "02325" "MID1_000097" "g.10463737G>A" "" "" "" "MID1(NM_000381.4):c.757-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006315" "0" "30" "X" "10535359" "10535359" "subst" "0.000165092" "01804" "MID1_000068" "g.10535359C>T" "" "" "" "MID1(NM_000381.3):c.229G>A (p.(Val77Ile)), MID1(NM_001347733.1):c.229G>A (p.V77I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006316" "0" "50" "X" "10535365" "10535365" "subst" "0" "01804" "MID1_000098" "g.10535365G>A" "" "" "" "MID1(NM_000381.3):c.223C>T (p.(Arg75Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044009" "0" "30" "X" "10437286" "10437286" "del" "0" "01804" "MID1_000099" "g.10437286del" "" "" "" "MID1(NM_000381.4):c.1285+451del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044010" "0" "30" "X" "10437590" "10437590" "subst" "6.18074E-6" "01804" "MID1_000100" "g.10437590C>T" "" "" "" "MID1(NM_001193278.1):c.1585G>A (p.(Ala529Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044011" "0" "30" "X" "10437734" "10437734" "subst" "5.61271E-6" "01804" "MID1_000070" "g.10437734C>T" "" "" "" "MID1(NM_001193278.1):c.1441G>A (p.(Glu481Lys), p.E481K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044012" "0" "30" "X" "10437792" "10437792" "subst" "0.0251689" "01804" "MID1_000001" "g.10437792G>A" "" "" "" "MID1(NM_000381.4):c.1230C>T (p.(Ser410=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001057266" "0" "30" "X" "10456124" "10456124" "subst" "0" "01804" "MID1_000101" "g.10456124C>G" "" "" "" "MID1(NM_000381.4):c.865-5456G>C" "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 MID1 ## Count = 113 "{{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}}" "0000001786" "00000742" "50" "661" "-7" "661" "-7" "c.661-7dup" "r.(=)" "p.(=)" "" "0000002778" "00000742" "50" "3266" "0" "3266" "0" "c.*1262del" "r.(=)" "p.(=)" "" "0000002779" "00000742" "50" "660" "1886" "660" "1886" "c.660+1886del" "r.(=)" "p.(=)" "" "0000002780" "00000742" "50" "660" "1885" "660" "1886" "c.660+1885_660+1886del" "r.(=)" "p.(=)" "" "0000006305" "00000742" "50" "757" "-5745" "757" "-5745" "c.757-5745G>A" "r.(=)" "p.(=)" "" "0000008364" "00000742" "50" "757" "-5745" "757" "-5745" "c.757-5745G>A" "r.(=)" "p.(=)" "" "0000008365" "00000742" "50" "661" "-8" "661" "-7" "c.661-8_661-7dup" "r.(=)" "p.(=)" "" "0000010783" "00000742" "50" "3266" "0" "3266" "0" "c.*1262del" "r.(=)" "p.(=)" "" "0000010784" "00000742" "50" "660" "1885" "660" "1886" "c.660+1885_660+1886del" "r.(=)" "p.(=)" "" "0000010785" "00000742" "50" "660" "1886" "660" "1886" "c.660+1886del" "r.(=)" "p.(=)" "" "0000014264" "00000742" "50" "757" "-4969" "757" "-4969" "c.757-4969A>C" "r.(=)" "p.(=)" "" "0000063328" "00000742" "90" "712" "0" "712" "0" "c.712G>T" "r.(?)" "p.(Glu238*)" "" "0000063329" "00000742" "50" "1141" "0" "1141" "0" "c.1141G>T" "r.(?)" "p.(Ala381Ser)" "" "0000063330" "00000742" "90" "537" "0" "550" "0" "c.537_550del" "r.(?)" "p.(Asp180Tyrfs*7)" "" "0000063331" "00000742" "90" "1483" "0" "1483" "0" "c.1483C>T" "r.(?)" "p.(Arg495*)" "" "0000063332" "00000742" "10" "1230" "0" "1230" "0" "c.1230C>T" "r.(=)" "p.(=)" "" "0000063333" "00000742" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277*)" "" "0000063334" "00000742" "90" "1530" "0" "1533" "0" "c.1530_1533dup" "r.(?)" "p.(Ser512Valfs*10)" "" "0000063335" "00000742" "50" "757" "-142" "757" "-142" "c.757-142A>C" "r.(=)" "p.(=)" "" "0000079451" "00000742" "00" "661" "-110" "756" "146" "c.661-110_756+146dup" "r.?" "p.?" "" "0000194519" "00000742" "70" "401" "0" "401" "0" "c.401G>A" "r.(?)" "p.(Cys134Tyr)" "1" "0000194520" "00000742" "70" "401" "0" "401" "0" "c.401G>A" "r.(?)" "p.(Cys134Tyr)" "1" "0000194521" "00000742" "30" "861" "0" "861" "0" "c.861G>A" "r.(?)" "p.(=)" "4" "0000194522" "00000742" "30" "1230" "0" "1230" "0" "c.1230C>T" "r.(?)" "p.(=)" "7" "0000194523" "00000742" "30" "1917" "0" "1917" "0" "c.1917C>T" "r.(?)" "p.(=)" "10" "0000236272" "00000742" "50" "-1" "0" "2005" "0" "c.(?_-1)_(*1_?)dup" "r.?" "p.?" "_1_10_" "0000250718" "00000742" "10" "661" "-7" "661" "-7" "c.661-7del" "r.(=)" "p.(=)" "" "0000253070" "00000742" "10" "661" "-7" "661" "-7" "c.661-7del" "r.(=)" "p.(=)" "" "0000283677" "00000742" "50" "511" "0" "511" "0" "c.511C>T" "r.(?)" "p.(Arg171Trp)" "" "0000286584" "00000742" "10" "661" "-6" "661" "-6" "c.661-6G>T" "r.(=)" "p.(=)" "" "0000286585" "00000742" "10" "661" "-7" "661" "-7" "c.661-7dup" "r.(=)" "p.(=)" "" "0000291817" "00000742" "10" "661" "-6" "661" "-6" "c.661-6G>T" "r.(=)" "p.(=)" "" "0000333140" "00000742" "50" "1988" "0" "1988" "0" "c.1988C>T" "r.(?)" "p.(Thr663Ile)" "" "0000333141" "00000742" "50" "1285" "13" "1285" "13" "c.1285+13T>C" "r.(=)" "p.(=)" "" "0000333142" "00000742" "30" "757" "-5745" "757" "-5745" "c.757-5745G>A" "r.(=)" "p.(=)" "" "0000333144" "00000742" "50" "588" "0" "588" "0" "c.588C>G" "r.(?)" "p.(Ala196=)" "" "0000333147" "00000742" "50" "263" "0" "263" "0" "c.263A>G" "r.(?)" "p.(Lys88Arg)" "" "0000339078" "00000742" "50" "430" "0" "430" "0" "c.430G>A" "r.(?)" "p.(Glu144Lys)" "" "0000341250" "00000742" "10" "588" "0" "588" "0" "c.588C>G" "r.(?)" "p.(Ala196=)" "" "0000341320" "00000742" "30" "76" "0" "76" "0" "c.76G>A" "r.(?)" "p.(Ala26Thr)" "" "0000342957" "00000742" "50" "1414" "0" "1414" "0" "c.1414C>T" "r.(?)" "p.(Arg472Cys)" "" "0000346083" "00000742" "90" "1354" "0" "1354" "0" "c.1354G>A" "r.(?)" "p.(Gly452Ser)" "" "0000349832" "00000742" "90" "1752" "0" "1752" "0" "c.1752G>A" "r.(?)" "p.(Trp584Ter)" "" "0000572788" "00000742" "10" "2000" "0" "2000" "0" "c.2000C>T" "r.(?)" "p.(Pro667Leu)" "" "0000572789" "00000742" "30" "1988" "0" "1988" "0" "c.1988C>T" "r.(?)" "p.(Thr663Ile)" "" "0000572790" "00000742" "50" "1688" "0" "1688" "0" "c.1688C>T" "r.(?)" "p.(Pro563Leu)" "" "0000572791" "00000742" "50" "1414" "0" "1414" "0" "c.1414C>T" "r.(?)" "p.(Arg472Cys)" "" "0000572792" "00000742" "50" "1414" "0" "1414" "0" "c.1414C>T" "r.(?)" "p.(Arg472Cys)" "" "0000572793" "00000742" "30" "1285" "147" "1285" "147" "c.1285+147G>C" "r.(=)" "p.(=)" "" "0000572794" "00000742" "50" "1231" "0" "1231" "0" "c.1231G>A" "r.(?)" "p.(Val411Met)" "" "0000572800" "00000742" "30" "757" "-5748" "757" "-5748" "c.757-5748C>T" "r.(=)" "p.(=)" "" "0000572801" "00000742" "50" "757" "-5825" "757" "-5825" "c.757-5825A>G" "r.(=)" "p.(=)" "" "0000572802" "00000742" "30" "757" "-10782" "757" "-10782" "c.757-10782G>A" "r.(=)" "p.(=)" "" "0000572803" "00000742" "30" "674" "0" "674" "0" "c.674G>A" "r.(?)" "p.(Ser225Asn)" "" "0000572804" "00000742" "90" "661" "-1" "661" "-1" "c.661-1G>T" "r.spl?" "p.?" "" "0000572806" "00000742" "30" "661" "-5" "661" "-5" "c.661-5A>T" "r.spl?" "p.?" "" "0000572808" "00000742" "30" "661" "-6" "661" "-6" "c.661-6G>T" "r.(=)" "p.(=)" "" "0000572809" "00000742" "30" "661" "-6" "661" "-6" "c.661-6del" "r.(=)" "p.(=)" "" "0000572810" "00000742" "30" "661" "-7" "661" "-7" "c.661-7del" "r.(=)" "p.(=)" "" "0000572811" "00000742" "30" "661" "-7" "661" "-7" "c.661-7dup" "r.(=)" "p.(=)" "" "0000572829" "00000742" "30" "588" "0" "588" "0" "c.588C>G" "r.(?)" "p.(Ala196=)" "" "0000572830" "00000742" "30" "99" "0" "99" "0" "c.99C>T" "r.(?)" "p.(Cys33=)" "" "0000572832" "00000742" "30" "75" "0" "75" "0" "c.75C>T" "r.(?)" "p.(Cys25=)" "" "0000618737" "00000742" "30" "1489" "0" "1489" "0" "c.1489C>T" "r.(?)" "p.(Leu497=)" "" "0000618739" "00000742" "30" "757" "-5746" "757" "-5746" "c.757-5746C>T" "r.(=)" "p.(=)" "" "0000618746" "00000742" "30" "229" "0" "229" "0" "c.229G>A" "r.(?)" "p.(Val77Ile)" "" "0000652783" "00000742" "50" "2000" "0" "2000" "0" "c.2000C>T" "r.(?)" "p.(Pro667Leu)" "" "0000652784" "00000742" "30" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521Cys)" "" "0000670079" "00000742" "50" "2000" "0" "2000" "0" "c.2000C>T" "r.(?)" "p.(Pro667Leu)" "" "0000681995" "00000742" "50" "1285" "3" "1285" "3" "c.1285+3G>A" "r.spl?" "p.?" "" "0000693253" "00000742" "30" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521Cys)" "" "0000693254" "00000742" "70" "1440" "0" "1443" "0" "c.1440_1443dup" "r.(?)" "p.(Asn482AspfsTer7)" "" "0000693255" "00000742" "30" "1365" "0" "1365" "0" "c.1365C>T" "r.(?)" "p.(Ser455=)" "" "0000693256" "00000742" "30" "1347" "0" "1347" "0" "c.1347G>A" "r.(?)" "p.(Thr449=)" "" "0000693257" "00000742" "10" "661" "-7" "661" "-7" "c.661-7dup" "r.(=)" "p.(=)" "" "0000728277" "00000742" "90" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Arg368*)" "" "0000728281" "00000742" "90" "452" "0" "452" "0" "c.452C>T" "r.(?)" "p.(Pro151Leu)" "" "0000728282" "00000742" "70" "433" "0" "433" "0" "c.433T>A" "r.(?)" "p.(Cys145Ser)" "" "0000728283" "00000742" "50" "106" "0" "106" "0" "c.106C>T" "r.(?)" "p.(Arg36Cys)" "" "0000809743" "00000742" "30" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521Cys)" "" "0000809744" "00000742" "30" "1443" "0" "1443" "0" "c.1443A>C" "r.(?)" "p.(Thr481=)" "" "0000809745" "00000742" "30" "1266" "0" "1266" "0" "c.1266C>T" "r.(?)" "p.(Thr422=)" "" "0000809746" "00000742" "50" "757" "-5748" "757" "-5748" "c.757-5748C>T" "r.(=)" "p.(=)" "" "0000823175" "00000742" "90" "864" "1" "864" "1" "c.864+1G>T" "r.spl" "p.?" "4i" "0000823176" "00000742" "90" "1285" "1" "1285" "1" "c.1285+1G>T" "r.spl" "p.?" "7i" "0000823177" "00000742" "90" "1286" "-10" "1286" "-10" "c.1286-10G>A" "r.spl" "p.?" "7i" "0000828495" "00000742" "50" "757" "-13635" "4670630" "0" "c.757-13635_*4668626del" "r.0?" "p.0?" "" "0000856242" "00000742" "50" "1192" "0" "1192" "0" "c.1192A>G" "r.(?)" "p.(Thr398Ala)" "" "0000856243" "00000742" "50" "1153" "0" "1153" "0" "c.1153C>G" "r.(?)" "p.(Pro385Ala)" "" "0000856245" "00000742" "50" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257Cys)" "" "0000856249" "00000742" "50" "182" "0" "182" "0" "c.182A>G" "r.(?)" "p.(His61Arg)" "" "0000866950" "00000742" "30" "1767" "0" "1767" "0" "c.1767T>C" "r.(?)" "p.(Asn589=)" "" "0000866951" "00000742" "30" "1541" "0" "1541" "0" "c.1541A>G" "r.(?)" "p.(Lys514Arg)" "" "0000895843" "00000742" "50" "1133" "0" "1133" "0" "c.1133A>G" "r.(?)" "p.(Tyr378Cys)" "" "0000895844" "00000742" "50" "1015" "0" "1015" "0" "c.1015G>C" "r.(?)" "p.(Val339Leu)" "" "0000895845" "00000742" "90" "958" "0" "959" "0" "c.958_959del" "r.(?)" "p.(Leu320Glufs*4)" "" "0000915581" "00000742" "50" "1526" "0" "1526" "0" "c.1526A>G" "r.(?)" "p.(Asp509Gly)" "" "0000970586" "00000742" "50" "1192" "0" "1192" "0" "c.1192A>G" "r.(?)" "p.(Thr398Ala)" "" "0000970588" "00000742" "10" "661" "-8" "661" "-7" "c.661-8_661-7dup" "r.(=)" "p.(=)" "" "0000970589" "00000742" "30" "661" "-7" "661" "-7" "c.661-7dup" "r.(=)" "p.(=)" "" "0000984365" "00000742" "30" "861" "0" "861" "0" "c.861G>A" "r.(?)" "p.(=)" "" "0000984372" "00000742" "30" "-111682" "0" "-111682" "0" "c.-111682C>A" "r.(?)" "p.(=)" "" "0000984374" "00000742" "30" "-143151" "0" "-143151" "0" "c.-143151G>A" "r.(?)" "p.(=)" "" "0001006309" "00000742" "30" "1414" "0" "1414" "0" "c.1414C>T" "r.(?)" "p.(Arg472Cys)" "" "0001006310" "00000742" "50" "757" "0" "757" "0" "c.757G>A" "r.(?)" "p.(Val253Ile)" "" "0001006311" "00000742" "30" "757" "-6" "757" "-6" "c.757-6C>T" "r.(=)" "p.(=)" "" "0001006315" "00000742" "30" "229" "0" "229" "0" "c.229G>A" "r.(?)" "p.(Val77Ile)" "" "0001006316" "00000742" "50" "223" "0" "223" "0" "c.223C>T" "r.(?)" "p.(Arg75Cys)" "" "0001044009" "00000742" "30" "1285" "451" "1285" "451" "c.1285+451del" "r.(=)" "p.(=)" "" "0001044010" "00000742" "30" "1285" "147" "1285" "147" "c.1285+147G>A" "r.(=)" "p.(=)" "" "0001044011" "00000742" "30" "1285" "3" "1285" "3" "c.1285+3G>A" "r.spl?" "p.?" "" "0001044012" "00000742" "30" "1230" "0" "1230" "0" "c.1230C>T" "r.(?)" "p.(=)" "" "0001057266" "00000742" "30" "865" "-5456" "865" "-5456" "c.865-5456G>C" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 33 "{{screeningid}}" "{{variantid}}" "0000000209" "0000001786" "0000000209" "0000002778" "0000000209" "0000002779" "0000000209" "0000002780" "0000000209" "0000006305" "0000000210" "0000008364" "0000000210" "0000008365" "0000000210" "0000010783" "0000000210" "0000010784" "0000000210" "0000010785" "0000000210" "0000014264" "0000036203" "0000063328" "0000036204" "0000063329" "0000036205" "0000063330" "0000036206" "0000063331" "0000036207" "0000063332" "0000036208" "0000063333" "0000036209" "0000063334" "0000036210" "0000063335" "0000050471" "0000079451" "0000118414" "0000194519" "0000118415" "0000194520" "0000118416" "0000194521" "0000118417" "0000194522" "0000118418" "0000194523" "0000145191" "0000236272" "0000296094" "0000652783" "0000296095" "0000652784" "0000306391" "0000670079" "0000392741" "0000823175" "0000392742" "0000823176" "0000392743" "0000823177" "0000396813" "0000828495"