### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MID2) # 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}}" "MID2" "midline 2" "X" "q22.1-q22.2" "unknown" "NG_011907.1" "UD_132085312760" "" "https://www.LOVD.nl/MID2" "" "1" "7096" "11043" "300204" "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/MID2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-03-06 00:00:00" "00006" "2017-05-18 16:05:01" "00000" "2022-05-09 16:01:56" ## 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}}" "00012119" "MID2" "transcript variant 1" "001" "NM_012216.3" "" "NP_036348.2" "" "" "" "-573" "6772" "2208" "107069084" "107174867" "" "0000-00-00 00:00:00" "" "" ## 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" "02209" "MRX101" "mental retardation, X-linked, type 101 (MRX101)" "XLR" "300928" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-05-11 15:17:00" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MID2" "02209" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00104590" "" "" "" "15" "" "01459" "Thenral et al Submitted" "large multi-generation family; variant was observed in all affecteds (n=7) and obligate carriers (n=8) but not in any unaffected males (n=5)" "M" "" "India" "" "0" "" "" "" "" "00114703" "" "" "" "9" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377241-Pat?" "00114704" "" "" "" "7" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377242-Pat?" "00114705" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377243-Pat?" "00114706" "" "" "" "1" "" "01459" "" "" "M" "no" "India" "" "0" "" "" "" "" "00114707" "" "" "" "1" "" "01459" "" "" "M" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00104590" "00187" "00114703" "02209" "00114704" "02209" "00114705" "02209" "00114706" "02209" "00114707" "02209" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 02209 ## Count = 6 "{{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}}" "0000082508" "00187" "00104590" "01459" "Familial, X-linked recessive" "" "mental retardation, no hearing loss, ocular changes" "" "" "" "" "" "" "" "" "" "" "0000090185" "02209" "00114703" "00124" "Unknown" "" "Intellectual disability; for details please contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "" "" "" "" "" "" "" "" "0000090186" "02209" "00114704" "00124" "Unknown" "" "Intellectual disability; for details please contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "" "" "" "" "" "" "" "" "0000090187" "02209" "00114705" "00124" "Unknown" "" "Intellectual disability; for details please contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "" "" "" "" "" "" "" "" "0000090188" "02209" "00114706" "01459" "Unknown" "" "Intellectual disability" "" "" "" "" "" "" "" "" "" "" "0000090189" "02209" "00114707" "01459" "Unknown" "" "Intellectual disability" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000105062" "00104590" "1" "01459" "01459" "2013-06-22 15:14:19" "" "" "SEQ" "DNA" "" "" "0000115160" "00114703" "1" "00124" "01533" "2009-10-28 15:09:48" "00006" "2017-08-07 11:48:22" "SEQ" "DNA" "" "" "0000115161" "00114704" "1" "00124" "01533" "2009-10-28 15:09:48" "00006" "2017-08-07 11:48:22" "SEQ" "DNA" "" "" "0000115162" "00114705" "1" "00124" "01533" "2009-10-28 15:09:48" "00006" "2017-08-07 11:48:22" "SEQ" "DNA" "" "" "0000115163" "00114706" "1" "01459" "01459" "2013-05-24 20:34:30" "00006" "2013-06-04 21:57:16" "SEQ" "DNA" "" "" "0000115164" "00114707" "1" "01459" "01459" "2013-06-21 17:15:06" "00006" "2017-08-07 11:48:22" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000105062" "MID2" "0000105062" "TEX13B" "0000115160" "MID2" "0000115161" "MID2" "0000115162" "MID2" "0000115163" "MID2" "0000115164" "MID2" ## 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}}" "0000170333" "21" "70" "X" "107148823" "107148823" "subst" "0.0000175808" "01459" "MID2_000004" "g.107148823G>A" "" "Thenral et al Submitted" "" "" "variant not observed in population controls (n=200) nor in unrelated individuals with idiopathic intellectual disability screened (n=480)" "Germline" "" "" "0" "" "" "g.107905593G>A" "" "likely pathogenic" "" "0000184506" "20" "50" "X" "107084075" "107084075" "subst" "0.0775404" "00124" "MID2_000002" "g.107084075A>C" "7/208 cases" "{PMID:Tarpey 2009:19377476}" "" "120A>C (S40S)" "recurrent, found 7 times; variant description modified by curator" "Unknown" "?" "" "0" "" "" "g.107840845A>C" "" "VUS" "" "0000184507" "0" "50" "X" "107084075" "107084075" "subst" "0.0775404" "01459" "MID2_000002" "g.107084075A>C" "42/480 male cases" "Thenral submitted" "" "120A>C (S40S)" "recurrent, found 42 times; the variant has also been reported in normal population (dbSNP:rs2236083)" "Unknown" "?" "" "0" "" "" "g.107840845A>C" "" "VUS" "" "0000184508" "20" "50" "X" "107148811" "107148811" "subst" "0.00132778" "01459" "MID2_000005" "g.107148811A>G" "1/480 cases" "Thenral submitted" "" "" "" "Unknown" "?" "" "0" "" "" "g.107905581A>G" "" "VUS" "" "0000184509" "20" "50" "X" "107159291" "107159291" "subst" "0.0403491" "00124" "MID2_000001" "g.107159291C>A" "9/208 cases" "{PMID:Tarpey 2009:19377476}" "" "1073C>A (A358D)" "recurrent, found 9 times; variant description modified by curator" "Unknown" "?" "" "0" "" "" "g.107916061C>A" "" "VUS" "" "0000184510" "0" "50" "X" "107159291" "107159291" "subst" "0.0403491" "01459" "MID2_000001" "g.107159291C>A" "14/480 male cases" "Thenral submitted" "" "" "recurrent, found 14 times. Has also been observed in the normal population (dbSNP:rs12849510)" "Unknown" "?" "" "0" "" "" "g.107916061C>A" "" "VUS" "" "0000184511" "20" "50" "X" "107169924" "107169924" "subst" "0" "00124" "MID2_000003" "g.107169924A>C" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "1769A>C (K590T)" "found once; variant description modified by curator" "Unknown" "?" "" "0" "" "" "g.107926694A>C" "" "VUS" "" "0000286586" "0" "30" "X" "107169388" "107169388" "subst" "0.000123415" "02326" "MID2_000006" "g.107169388G>A" "" "" "" "MID2(NM_012216.3):c.1662G>A (p.L554=), MID2(NM_012216.4):c.1662G>A (p.L554=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107926158G>A" "" "likely benign" "" "0000335113" "0" "50" "X" "107148811" "107148811" "subst" "0.00132778" "01804" "MID2_000005" "g.107148811A>G" "" "" "" "MID2(NM_012216.3):c.1028A>G (p.(Asn343Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107905581A>G" "" "VUS" "" "0000335114" "0" "50" "X" "107170239" "107170239" "subst" "0.000089878" "01804" "MID2_000007" "g.107170239G>A" "" "" "" "MID2(NM_012216.3):c.2144G>A (p.R715Q, p.(Arg715Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107927009G>A" "" "VUS" "" "0000345413" "0" "70" "X" "107160817" "107160817" "del" "0" "02327" "MID2_000008" "g.107160817del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107917587del" "" "likely pathogenic" "" "0000346135" "0" "50" "X" "107167695" "107167695" "subst" "0" "02327" "MID2_000010" "g.107167695G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107924465G>A" "" "VUS" "" "0000349808" "0" "50" "X" "107167598" "107167598" "subst" "0" "02327" "MID2_000009" "g.107167598G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107924368G>C" "" "VUS" "" "0000572883" "0" "50" "X" "107084302" "107084302" "subst" "0.0000168269" "01943" "MID2_000011" "g.107084302G>A" "" "" "" "MID2(NM_012216.3):c.407G>A (p.R136Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107841072G>A" "" "VUS" "" "0000572884" "0" "50" "X" "107084434" "107084434" "subst" "0" "01943" "MID2_000012" "g.107084434G>T" "" "" "" "MID2(NM_012216.3):c.539G>T (p.R180L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107841204G>T" "" "VUS" "" "0000572885" "0" "30" "X" "107169363" "107169363" "subst" "0.000281695" "01943" "MID2_000013" "g.107169363A>G" "" "" "" "MID2(NM_012216.3):c.1637A>G (p.K546R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107926133A>G" "" "likely benign" "" "0000572886" "0" "30" "X" "107169483" "107169483" "subst" "0" "01943" "MID2_000014" "g.107169483T>C" "" "" "" "MID2(NM_012216.3):c.1757T>C (p.I586T, p.(Ile586Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107926253T>C" "" "likely benign" "" "0000572887" "0" "50" "X" "107169483" "107169483" "subst" "0" "01804" "MID2_000014" "g.107169483T>C" "" "" "" "MID2(NM_012216.3):c.1757T>C (p.I586T, p.(Ile586Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107926253T>C" "" "VUS" "" "0000618759" "0" "50" "X" "107084563" "107084563" "subst" "0.0000401059" "01943" "MID2_000015" "g.107084563G>A" "" "" "" "MID2(NM_012216.3):c.668G>A (p.R223H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107841333G>A" "" "VUS" "" "0000659035" "0" "30" "X" "107148848" "107148848" "subst" "0" "01943" "MID2_000016" "g.107148848T>C" "" "" "" "MID2(NM_012216.3):c.1065T>C (p.I355=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107905618T>C" "" "likely benign" "" "0000682007" "0" "30" "X" "107097865" "107097865" "subst" "0.00000560963" "01943" "MID2_000017" "g.107097865C>T" "" "" "" "MID2(NM_012216.3):c.747C>T (p.N249=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693268" "0" "30" "X" "107170093" "107170093" "subst" "0" "01943" "MID2_000018" "g.107170093T>C" "" "" "" "MID2(NM_012216.3):c.1998T>C (p.S666=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728295" "0" "50" "X" "107084395" "107084395" "subst" "0.0000224795" "01943" "MID2_000019" "g.107084395G>A" "" "" "" "MID2(NM_012216.3):c.500G>A (p.R167Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809760" "0" "50" "X" "107084026" "107084026" "subst" "0" "02327" "MID2_000020" "g.107084026C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809761" "0" "30" "X" "107159228" "107159228" "del" "0" "01943" "MID2_000021" "g.107159228del" "" "" "" "MID2(NM_012216.3):c.1074-4delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809762" "0" "30" "X" "107169482" "107169482" "subst" "0.0000336449" "02325" "MID2_000022" "g.107169482A>G" "" "" "" "MID2(NM_012216.4):c.1756A>G (p.I586V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809763" "0" "30" "X" "107170232" "107170232" "subst" "0.0000336306" "01943" "MID2_000023" "g.107170232C>T" "" "" "" "MID2(NM_012216.3):c.2137C>T (p.P713S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856259" "0" "50" "X" "107084257" "107084257" "subst" "0.0000672536" "02325" "MID2_000024" "g.107084257G>T" "" "" "" "MID2(NM_012216.4):c.362G>T (p.R121L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856260" "0" "30" "X" "107084486" "107084486" "subst" "0" "01943" "MID2_000025" "g.107084486C>T" "" "" "" "MID2(NM_012216.3):c.591C>T (p.D197=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856261" "0" "30" "X" "107170239" "107170239" "subst" "0.000089878" "01943" "MID2_000007" "g.107170239G>A" "" "" "" "MID2(NM_012216.3):c.2144G>A (p.R715Q, p.(Arg715Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866962" "0" "30" "X" "107147219" "107147219" "subst" "0.00000561454" "01943" "MID2_000026" "g.107147219T>C" "" "" "" "MID2(NM_012216.3):c.848T>C (p.M283T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866963" "0" "30" "X" "107169388" "107169388" "subst" "0.000123415" "01943" "MID2_000006" "g.107169388G>A" "" "" "" "MID2(NM_012216.3):c.1662G>A (p.L554=), MID2(NM_012216.4):c.1662G>A (p.L554=)" "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 MID2 ## 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}}" "0000170333" "00012119" "70" "1040" "0" "1040" "0" "c.1040G>A" "r.(?)" "p.(Arg347Gln)" "6" "0000184506" "00012119" "50" "180" "0" "180" "0" "c.180A>C" "r.(?)" "p.(=)" "2" "0000184507" "00012119" "50" "180" "0" "180" "0" "c.180A>C" "r.(?)" "p.(S60S)" "2" "0000184508" "00012119" "50" "1028" "0" "1028" "0" "c.1028A>G" "r.(?)" "p.(Asn343Ser)" "5" "0000184509" "00012119" "50" "1133" "0" "1133" "0" "c.1133C>A" "r.(?)" "p.(Asn378Asp)" "6" "0000184510" "00012119" "50" "1133" "0" "1133" "0" "c.1133C>A" "r.(?)" "p.(Asn378Asp)" "6" "0000184511" "00012119" "50" "1829" "0" "1829" "0" "c.1829A>C" "r.(?)" "p.(Lys610Thr)" "10" "0000286586" "00012119" "30" "1662" "0" "1662" "0" "c.1662G>A" "r.(?)" "p.(Leu554=)" "" "0000335113" "00012119" "50" "1028" "0" "1028" "0" "c.1028A>G" "r.(?)" "p.(Asn343Ser)" "" "0000335114" "00012119" "50" "2144" "0" "2144" "0" "c.2144G>A" "r.(?)" "p.(Arg715Gln)" "" "0000345413" "00012119" "70" "1283" "0" "1283" "0" "c.1283del" "r.(?)" "p.(Glu428GlyfsTer34)" "" "0000346135" "00012119" "50" "1558" "0" "1558" "0" "c.1558G>A" "r.(?)" "p.(Gly520Ser)" "" "0000349808" "00012119" "50" "1461" "0" "1461" "0" "c.1461G>C" "r.(?)" "p.(Trp487Cys)" "" "0000572883" "00012119" "50" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136Gln)" "" "0000572884" "00012119" "50" "539" "0" "539" "0" "c.539G>T" "r.(?)" "p.(Arg180Leu)" "" "0000572885" "00012119" "30" "1637" "0" "1637" "0" "c.1637A>G" "r.(?)" "p.(Lys546Arg)" "" "0000572886" "00012119" "30" "1757" "0" "1757" "0" "c.1757T>C" "r.(?)" "p.(Ile586Thr)" "" "0000572887" "00012119" "50" "1757" "0" "1757" "0" "c.1757T>C" "r.(?)" "p.(Ile586Thr)" "" "0000618759" "00012119" "50" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223His)" "" "0000659035" "00012119" "30" "1065" "0" "1065" "0" "c.1065T>C" "r.(?)" "p.(Ile355=)" "" "0000682007" "00012119" "30" "747" "0" "747" "0" "c.747C>T" "r.(?)" "p.(Asn249=)" "" "0000693268" "00012119" "30" "1998" "0" "1998" "0" "c.1998T>C" "r.(?)" "p.(Ser666=)" "" "0000728295" "00012119" "50" "500" "0" "500" "0" "c.500G>A" "r.(?)" "p.(Arg167Gln)" "" "0000809760" "00012119" "50" "131" "0" "131" "0" "c.131C>A" "r.(?)" "p.(Pro44His)" "" "0000809761" "00012119" "30" "1074" "-4" "1074" "-4" "c.1074-4del" "r.spl?" "p.?" "" "0000809762" "00012119" "30" "1756" "0" "1756" "0" "c.1756A>G" "r.(?)" "p.(Ile586Val)" "" "0000809763" "00012119" "30" "2137" "0" "2137" "0" "c.2137C>T" "r.(?)" "p.(Pro713Ser)" "" "0000856259" "00012119" "50" "362" "0" "362" "0" "c.362G>T" "r.(?)" "p.(Arg121Leu)" "" "0000856260" "00012119" "30" "591" "0" "591" "0" "c.591C>T" "r.(?)" "p.(Asp197=)" "" "0000856261" "00012119" "30" "2144" "0" "2144" "0" "c.2144G>A" "r.(?)" "p.(Arg715Gln)" "" "0000866962" "00012119" "30" "848" "0" "848" "0" "c.848T>C" "r.(?)" "p.(Met283Thr)" "" "0000866963" "00012119" "30" "1662" "0" "1662" "0" "c.1662G>A" "r.(?)" "p.(Leu554=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000105062" "0000170333" "0000115160" "0000184509" "0000115161" "0000184506" "0000115162" "0000184511" "0000115163" "0000184508" "0000115164" "0000184507" "0000115164" "0000184510"