### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GLRA2) # 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}}" "GLRA2" "glycine receptor, alpha 2" "X" "p22.2" "unknown" "NG_016459.3" "UD_132118264202" "" "https://www.LOVD.nl/GLRA2" "" "1" "4327" "2742" "305990" "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" "2023-01-31 18:58:15" "00006" "2025-01-17 15:00:10" ## 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}}" "00025805" "GLRA2" "transcript variant 1" "001" "NM_002063.3" "" "NP_002054.1" "" "" "" "-760" "2686" "1359" "14547420" "14749934" "00006" "2023-01-30 17:17:42" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05323" "MYP" "myopia (MYP)" "" "" "" "" "" "00006" "2017-09-01 15:07:55" "" "" "05421" "microcephaly" "microcephaly" "" "" "" "" "" "00006" "2018-04-15 11:41:15" "" "" "06999" "MRXSP" "intellectual developmental disorder, X-linked syndromic, Pilorge type" "XL" "301076" "" "" "" "00006" "2023-01-30 17:16:44" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "GLRA2" "06999" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00173280" "" "" "" "65" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173538" "" "" "" "2" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00431163" "" "" "" "8" "" "00006" "{PMID:Tian 2023:35396272}" "4-generation family, 8 affected (6F, 2M)" "F;M" "" "China" "" "0" "" "" "" "FamHM1" "00431164" "" "" "" "12" "" "00006" "{PMID:Tian 2023:35396272}" "4-generation family, 12 affected (9F, 3M)" "F;M" "" "China" "" "0" "" "" "" "FamH2" "00431165" "" "" "" "5" "" "00006" "{PMID:Tian 2023:35396272}" "4-generation family, 5 affected (3F, 2M)" "F;M" "" "China" "" "0" "" "" "" "FamH3" "00431166" "" "" "" "1" "" "00006" "{PMID:Tian 2023:35396272}" "" "" "" "China" "" "0" "" "" "" "PatM21227" "00460019" "" "" "" "1" "" "00006" "{PMID:Moller 2008:18405873}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Germany" "" "0" "" "" "" "Pat2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00173280" "00187" "00173538" "00187" "00431163" "05323" "00431164" "05323" "00431165" "05323" "00431166" "05323" "00460019" "05421" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 01157, 05323, 05421, 06999 ## Count = 9 "{{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" "" "" "" "" "" "" "" "0000138144" "00187" "00173280" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000138402" "00187" "00173538" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000321772" "05323" "00431163" "00006" "Familial, autosomal dominant" "" "high myopia" "" "" "" "" "" "" "" "" "" "myopia" "0000321773" "05323" "00431164" "00006" "Familial, autosomal dominant" "" "high myopia" "" "" "" "" "" "" "" "" "" "myopia" "0000321774" "05323" "00431165" "00006" "Unknown" "" "high myopia" "" "" "" "" "" "" "" "" "" "myopia" "0000321775" "05323" "00431166" "00006" "Unknown" "" "high myopia" "" "" "" "" "" "" "" "" "" "myopia" "0000347745" "05421" "00460019" "00006" "Isolated (sporadic)" "12y" "see paper; ..., severe intellectual disability; intra-uterine growth retardation; febrile seizures; primary microcephaly; slender posture; neonatal feeding problems; periods hyperextension neck; no bitemporal narrowing; large/simple ear, no deep-set eyes, pointed nose, micrognathia; scoliosis/kyphosis/pectus excavatum; cardiac defect; short distal phalanges" "" "" "" "" "" "" "" "" "MRD7" "microcephaly" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000174163" "00173280" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000174421" "00173538" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000432574" "00431163" "1" "00006" "00006" "2023-01-31 18:36:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432575" "00431164" "1" "00006" "00006" "2023-01-31 18:42:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432576" "00431165" "1" "00006" "00006" "2023-01-31 18:48:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432577" "00431166" "1" "00006" "00006" "2023-01-31 18:53:21" "" "" "SEQ" "DNA" "" "" "0000461649" "00460019" "1" "00006" "00006" "2025-01-17 14:07:47" "" "" "arrayCGH;FISH;microscope" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000174163" "GPRASP2" "0000174421" "BCORL1" "0000432577" "GLRA2" ## 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}}" "0000001796" "0" "50" "X" "14625414" "14625414" "dup" "0" "00037" "GLRA2_000015" "g.14625414dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.14607292dup" "" "VUS" "" "0000001797" "0" "50" "X" "14749059" "14749072" "del" "0" "00037" "GLRA2_000003" "g.14749059_14749072del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.14730937_14730950del" "" "VUS" "" "0000002794" "0" "50" "X" "14625416" "14625418" "del" "0" "00037" "GLRA2_000021" "g.14625416_14625418del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.14607294_14607296del" "" "VUS" "" "0000002795" "0" "50" "X" "14627022" "14627022" "del" "0" "00037" "GLRA2_000019" "g.14627022del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.14608900del" "" "VUS" "" "0000006346" "0" "50" "X" "14547643" "14547643" "subst" "0" "00037" "GLRA2_000018" "g.14547643T>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.14529521T>G" "" "VUS" "" "0000006347" "20" "50" "X" "14627144" "14627144" "subst" "0.252654" "00037" "GLRA2_000012" "g.14627144T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.14609022T>C" "" "VUS" "" "0000006348" "20" "50" "X" "14708620" "14708620" "subst" "0" "00037" "GLRA2_000001" "g.14708620G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.14690498G>A" "" "VUS" "" "0000006349" "20" "50" "X" "14749341" "14749341" "subst" "0" "00037" "GLRA2_000004" "g.14749341T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.14731219T>C" "" "VUS" "" "0000006350" "20" "50" "X" "14749604" "14749604" "subst" "0" "00037" "GLRA2_000007" "g.14749604T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.14731482T>C" "" "VUS" "" "0000008408" "0" "50" "X" "14625414" "14625414" "dup" "0" "00037" "GLRA2_000015" "g.14625414dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.14607292dup" "" "VUS" "" "0000008409" "20" "50" "X" "14627144" "14627144" "subst" "0.252654" "00037" "GLRA2_000012" "g.14627144T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.14609022T>C" "" "VUS" "" "0000008410" "0" "50" "X" "14708828" "14708829" "del" "0" "00037" "GLRA2_000002" "g.14708828_14708829del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.14690706_14690707del" "" "VUS" "" "0000008411" "20" "50" "X" "14749341" "14749341" "subst" "0" "00037" "GLRA2_000004" "g.14749341T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.14731219T>C" "" "VUS" "" "0000008412" "20" "50" "X" "14749604" "14749604" "subst" "0" "00037" "GLRA2_000007" "g.14749604T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.14731482T>C" "" "VUS" "" "0000010800" "0" "50" "X" "14625414" "14625414" "dup" "0" "00037" "GLRA2_000022" "g.14625414dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.14607292dup" "" "VUS" "" "0000010801" "0" "50" "X" "14627022" "14627022" "del" "0" "00037" "GLRA2_000019" "g.14627022del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.14608900del" "" "VUS" "" "0000347489" "0" "30" "X" "14627115" "14627115" "subst" "1.73124E-5" "02327" "GLRA2_000023" "g.14627115A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14608993A>G" "" "likely benign" "" "0000400936" "1" "30" "X" "14627144" "14627144" "subst" "0.252654" "00124" "GLRA2_000012" "g.14627144T>C" "65/208 cases" "{PMID:Tarpey 2009:19377476}" "" "H249H" "recurrent, found 65 times" "Germline" "" "" "0" "" "" "g.14609022T>C" "" "likely benign" "" "0000400999" "1" "50" "X" "14748509" "14748509" "subst" "0.000431143" "00124" "GLRA2_000024" "g.14748509A>G" "2/208 cases" "{PMID:Tarpey 2009:19377476}" "" "I421V" "recurrent, found 2 times" "Germline" "" "" "0" "" "" "g.14730387A>G" "" "VUS" "" "0000573999" "0" "50" "X" "14627151" "14627151" "subst" "5.63606E-6" "01943" "GLRA2_000025" "g.14627151C>T" "" "" "" "GLRA2(NM_001118886.1):c.754C>T (p.R252C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14609029C>T" "" "VUS" "" "0000574012" "0" "50" "X" "14708911" "14708911" "subst" "3.91832E-5" "01804" "GLRA2_000026" "g.14708911C>T" "" "" "" "GLRA2(NM_001118885.1):c.1010C>T (p.(Ala337Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14690789C>T" "" "VUS" "" "0000619093" "0" "50" "X" "14627247" "14627247" "subst" "0" "01943" "GLRA2_000027" "g.14627247C>A" "" "" "" "GLRA2(NM_001118886.1):c.850C>A (p.P284T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14609125C>A" "" "VUS" "" "0000624458" "0" "50" "X" "14748569" "14748569" "subst" "0" "02329" "GLRA2_000028" "g.14748569T>C" "" "" "" "GLRA2(NM_002063.4):c.1321T>C (p.Y441H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14730447T>C" "" "VUS" "" "0000682158" "0" "30" "X" "14748509" "14748509" "subst" "0.000431143" "01943" "GLRA2_000024" "g.14748509A>G" "" "" "" "GLRA2(NM_001118886.1):c.1261A>G (p.I421V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856391" "0" "50" "X" "14708956" "14708956" "subst" "5.60604E-6" "02327" "GLRA2_000029" "g.14708956G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000918111" "1" "90" "X" "14622481" "14622481" "subst" "0" "00006" "GLRA2_000030" "g.14622481C>T" "" "{PMID:Tian 2023:35396272}" "" "" "" "Germline" "yes" "" "0" "" "" "g.14604359C>T" "" "pathogenic (dominant)" "" "0000918112" "1" "90" "X" "14622481" "14622481" "subst" "0" "00006" "GLRA2_000030" "g.14622481C>T" "" "{PMID:Tian 2023:35396272}" "" "" "" "Germline" "yes" "" "0" "" "" "g.14604359C>T" "" "pathogenic (dominant)" "" "0000918113" "1" "50" "X" "14708922" "14708922" "subst" "1.11967E-5" "00006" "GLRA2_000031" "g.14708922G>A" "" "{PMID:Tian 2023:35396272}" "" "" "" "Germline" "no" "" "0" "" "" "g.14690800G>A" "" "likely benign" "" "0000918114" "0" "70" "X" "14599492" "14599492" "subst" "0" "00006" "GLRA2_000032" "g.14599492G>A" "" "{PMID:Tian 2023:35396272}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.14581370G>A" "" "likely pathogenic" "" "0000984495" "0" "70" "X" "14548195" "14548198" "dup" "0" "02329" "GLRA2_000033" "g.14548195_14548198dup" "" "" "" "GLRA2(NM_002063.4):c.16_19dupGTGA (p.N7Sfs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001006483" "0" "50" "X" "14708949" "14708949" "subst" "1.68095E-5" "01804" "GLRA2_000034" "g.14708949C>T" "" "" "" "GLRA2(NM_002063.3):c.1048C>T (p.(Arg350Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001020977" "0" "50" "X" "13985079" "14579079" "dup" "0" "00006" "GLRA2_000035" "g.(?_13985079)_(14579079_?)dup" "" "{PMID:Moller 2008:18405873}" "" "hg18 13,895,000–14,489,000dup" "590kb duplication including GEMIN8 and exon 1 GLRA2" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_13966960)_(14560960_?)dup" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes GLRA2 ## 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}}" "0000001796" "00025805" "50" "715" "24" "715" "24" "c.715+24dup" "r.(=)" "p.(=)" "" "0000001797" "00025805" "50" "1811" "0" "1824" "0" "c.*452_*465del" "r.(=)" "p.(=)" "" "0000002794" "00025805" "50" "715" "26" "715" "28" "c.715+26_715+28del" "r.(=)" "p.(=)" "" "0000002795" "00025805" "50" "716" "-91" "716" "-91" "c.716-91del" "r.(=)" "p.(=)" "" "0000006346" "00025805" "50" "-537" "0" "-537" "0" "c.-537T>G" "r.(=)" "p.(=)" "" "0000006347" "00025805" "50" "747" "0" "747" "0" "c.747T>C" "r.(=)" "p.(=)" "" "0000006348" "00025805" "50" "931" "-212" "931" "-212" "c.931-212G>A" "r.(=)" "p.(=)" "" "0000006349" "00025805" "50" "2093" "0" "2093" "0" "c.*734T>C" "r.(=)" "p.(=)" "" "0000006350" "00025805" "50" "2356" "0" "2356" "0" "c.*997T>C" "r.(=)" "p.(=)" "" "0000008408" "00025805" "50" "715" "24" "715" "24" "c.715+24dup" "r.(=)" "p.(=)" "" "0000008409" "00025805" "50" "747" "0" "747" "0" "c.747T>C" "r.(=)" "p.(=)" "" "0000008410" "00025805" "50" "931" "-4" "931" "-3" "c.931-4_931-3del" "r.spl?" "p.?" "" "0000008411" "00025805" "50" "2093" "0" "2093" "0" "c.*734T>C" "r.(=)" "p.(=)" "" "0000008412" "00025805" "50" "2356" "0" "2356" "0" "c.*997T>C" "r.(=)" "p.(=)" "" "0000010800" "00025805" "50" "715" "24" "715" "24" "c.715+24dup" "r.(=)" "p.(=)" "" "0000010801" "00025805" "50" "716" "-91" "716" "-91" "c.716-91del" "r.(=)" "p.(=)" "" "0000347489" "00025805" "30" "718" "0" "718" "0" "c.718A>G" "r.(?)" "p.(Lys240Glu)" "" "0000400936" "00025805" "30" "747" "0" "747" "0" "c.747T>C" "r.(?)" "p.(=)" "" "0000400999" "00025805" "50" "1261" "0" "1261" "0" "c.1261A>G" "r.(?)" "p.(Ile421Val)" "" "0000573999" "00025805" "50" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Cys)" "" "0000574012" "00025805" "50" "1010" "0" "1010" "0" "c.1010C>T" "r.(?)" "p.(Ala337Val)" "" "0000619093" "00025805" "50" "850" "0" "850" "0" "c.850C>A" "r.(?)" "p.(Pro284Thr)" "" "0000624458" "00025805" "50" "1321" "0" "1321" "0" "c.1321T>C" "r.(?)" "p.(Tyr441His)" "" "0000682158" "00025805" "30" "1261" "0" "1261" "0" "c.1261A>G" "r.(?)" "p.(Ile421Val)" "" "0000856391" "00025805" "50" "1055" "0" "1055" "0" "c.1055G>A" "r.(?)" "p.(Arg352Gln)" "" "0000918111" "00025805" "90" "539" "0" "539" "0" "c.539C>T" "r.(?)" "p.(Pro180Leu)" "" "0000918112" "00025805" "90" "539" "0" "539" "0" "c.539C>T" "r.(?)" "p.(Pro180Leu)" "" "0000918113" "00025805" "50" "1021" "0" "1021" "0" "c.1021G>A" "r.(?)" "p.(Val341Ile)" "" "0000918114" "00025805" "70" "458" "0" "458" "0" "c.458G>A" "r.(?)" "p.(Arg153Gln)" "" "0000984495" "00025805" "70" "16" "0" "19" "0" "c.16_19dup" "r.(?)" "p.(Asn7Serfs*26)" "" "0001006483" "00025805" "50" "1048" "0" "1048" "0" "c.1048C>T" "r.(?)" "p.(Arg350Cys)" "" "0001020977" "00025805" "50" "-473022" "0" "931" "-39674" "c.(?_-473022)_(931-39674_?)dup" "r.?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{variantid}}" "0000000209" "0000001796" "0000000209" "0000001797" "0000000209" "0000002794" "0000000209" "0000002795" "0000000209" "0000006346" "0000000209" "0000006347" "0000000209" "0000006348" "0000000209" "0000006349" "0000000209" "0000006350" "0000000210" "0000008408" "0000000210" "0000008409" "0000000210" "0000008410" "0000000210" "0000008411" "0000000210" "0000008412" "0000000210" "0000010800" "0000000210" "0000010801" "0000174163" "0000400936" "0000174421" "0000400999" "0000432574" "0000918111" "0000432575" "0000918112" "0000432576" "0000918113" "0000432577" "0000918114" "0000461649" "0001020977"