### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NRXN3) # 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}}" "NRXN3" "neurexin 3" "14" "q31" "unknown" "NG_052991.1" "NC_000014.8" "" "https://www.LOVD.nl/NRXN3" "" "1" "8010" "9369" "600567" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2017-06-11 12:29:58" "00000" "2025-05-05 21:14:00" ## 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}}" "00025445" "NRXN3" "transcript variant 3" "005" "NM_001105250.2" "" "NP_001098720.1" "" "" "" "-953" "7706" "1380" "79745682" "80334633" "00001" "2019-07-18 10:54:46" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00103915" "" "" "" "1" "" "00006" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "United States" "" "0" "" "" "" "28327206-PatBH3929_1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00103915" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01157 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{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}}" "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" "" "" "" "" "" "" "" "" "" "0000081842" "00198" "00103915" "00006" "Familial, autosomal recessive" "" "short stature, relative macrocephaly" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000104373" "00103915" "1" "00006" "00006" "2017-04-22 16:52:53" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000104373" "NRXN3" ## 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 = 36 "{{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}}" "0000013336" "3" "50" "14" "79968788" "79968788" "subst" "0" "00037" "NRXN3_000001" "g.79968788A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.79502445A>G" "" "VUS" "" "0000169053" "1" "70" "14" "79175653" "79175653" "subst" "0" "00006" "NRXN3_000002" "g.79175653A>G" "" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "NM_004796.4:c.196A>G (K66E)" "" "Germline" "" "" "0" "" "" "g.78709310A>G" "" "likely pathogenic" "" "0000169064" "2" "70" "14" "79434692" "79434692" "subst" "0.000200065" "00006" "NRXN3_000003" "g.79434692A>G" "" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "NM_004796.4:c.2023+3A>G" "" "Germline" "" "" "0" "" "" "g.78968349A>G" "" "likely pathogenic" "" "0000553178" "0" "30" "14" "79117576" "79117576" "subst" "0.00274192" "01943" "NRXN3_000005" "g.79117576C>A" "" "" "" "NRXN3(NM_001330195.1):c.1128C>A (p.G376=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78651233C>A" "" "likely benign" "" "0000553179" "0" "30" "14" "79175555" "79175555" "subst" "9.16415E-5" "01943" "NRXN3_000006" "g.79175555G>C" "" "" "" "NRXN3(NM_001330195.1):c.1222-5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78709212G>C" "" "likely benign" "" "0000553180" "0" "30" "14" "79433543" "79433543" "del" "0" "01804" "NRXN3_000007" "g.79433543del" "" "" "" "NRXN3(NM_004796.4):c.1659-8delC (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78967200del" "" "likely benign" "" "0000553181" "0" "30" "14" "79433546" "79433546" "subst" "0" "01804" "NRXN3_000008" "g.79433546C>T" "" "" "" "NRXN3(NM_004796.4):c.1659-5C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78967203C>T" "" "likely benign" "" "0000553182" "0" "30" "14" "79433546" "79433564" "del" "0" "01804" "NRXN3_000009" "g.79433546_79433564del" "" "" "" "NRXN3(NM_004796.4):c.1659-5_1672del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78967203_78967221del" "" "likely benign" "" "0000553183" "0" "30" "14" "79433547" "79433547" "subst" "0.000134294" "01804" "NRXN3_000010" "g.79433547C>T" "" "" "" "NRXN3(NM_004796.4):c.1659-4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78967204C>T" "" "likely benign" "" "0000553184" "0" "30" "14" "79433549" "79433549" "subst" "0" "01804" "NRXN3_000011" "g.79433549A>T" "" "" "" "NRXN3(NM_004796.4):c.1659-2A>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78967206A>T" "" "likely benign" "" "0000553185" "0" "50" "14" "79434692" "79434692" "subst" "0.000200065" "01804" "NRXN3_000003" "g.79434692A>G" "" "" "" "NRXN3(NM_004796.4):c.2023+3A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78968349A>G" "" "VUS" "" "0000553186" "0" "30" "14" "79454391" "79454391" "subst" "0" "01804" "NRXN3_000012" "g.79454391T>G" "" "" "" "NRXN3(NM_004796.4):c.2050T>G (p.(Ser684Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78988048T>G" "" "likely benign" "" "0000553187" "0" "50" "14" "80130235" "80130235" "subst" "4.07342E-6" "01943" "NRXN3_000013" "g.80130235G>A" "" "" "" "NRXN3(NM_004796.5):c.2440G>A (p.G814S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79663892G>A" "" "VUS" "" "0000553188" "0" "10" "14" "80164211" "80164211" "subst" "0.00168454" "01943" "NRXN3_000014" "g.80164211T>C" "" "" "" "NRXN3(NM_001330195.1):c.3945T>C (p.T1315=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79697868T>C" "" "benign" "" "0000553189" "0" "50" "14" "80327663" "80327664" "del" "0" "01804" "NRXN3_000015" "g.80327663_80327664del" "" "" "" "NRXN3(NM_001272020.1):c.1268_1269del (p.(Thr424HisfsTer8))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79861320_79861321del" "" "VUS" "" "0000981032" "0" "10" "14" "78709688" "78709688" "subst" "0.0011555" "01804" "NRXN3_000016" "g.78709688C>T" "" "" "" "NRXN3(NM_001330195.2):c.252C>T (p.(Arg84=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000981033" "0" "30" "14" "78710114" "78710114" "subst" "9.4518E-5" "01804" "NRXN3_000017" "g.78710114C>T" "" "" "" "NRXN3(NM_001330195.2):c.678C>T (p.(Thr226=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981034" "0" "50" "14" "79111507" "79111507" "subst" "1.88804E-5" "01804" "NRXN3_000018" "g.79111507T>C" "" "" "" "NRXN3(NM_001330195.2):c.802T>C (p.(Cys268Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981035" "0" "50" "14" "79111646" "79111646" "subst" "3.05519E-5" "01804" "NRXN3_000019" "g.79111646C>T" "" "" "" "NRXN3(NM_001330195.2):c.941C>T (p.(Ala314Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981036" "0" "50" "14" "79111720" "79111720" "subst" "8.74592E-6" "01804" "NRXN3_000020" "g.79111720G>A" "" "" "" "NRXN3(NM_001330195.2):c.1015G>A (p.(Asp339Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981037" "0" "30" "14" "79111773" "79111773" "subst" "0" "01804" "NRXN3_000021" "g.79111773T>C" "" "" "" "NRXN3(NM_001330195.2):c.1059+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981038" "0" "30" "14" "79175879" "79175879" "subst" "0.000373874" "01804" "NRXN3_000022" "g.79175879A>C" "" "" "" "NRXN3(NM_001330195.2):c.1541A>C (p.(Asp514Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981039" "0" "50" "14" "79423656" "79423656" "subst" "8.12519E-6" "01804" "NRXN3_000023" "g.79423656C>T" "" "" "" "NRXN3(NM_001330195.2):c.2347C>T (p.(Arg783Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001172" "0" "50" "14" "79175576" "79175576" "subst" "0" "01804" "NRXN3_000024" "g.79175576A>G" "" "" "" "NRXN3(NM_004796.5):c.119A>G (p.(Asn40Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001173" "0" "50" "14" "79175780" "79175780" "subst" "3.65895E-5" "01804" "NRXN3_000025" "g.79175780A>G" "" "" "" "NRXN3(NM_004796.5):c.323A>G (p.(Asn108Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001174" "0" "30" "14" "79270060" "79270060" "subst" "2.03706E-5" "01804" "NRXN3_000026" "g.79270060G>A" "" "" "" "NRXN3(NM_004796.5):c.1023G>A (p.(Met341Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001175" "0" "50" "14" "79432484" "79432484" "subst" "4.87615E-5" "01804" "NRXN3_000027" "g.79432484C>T" "" "" "" "NRXN3(NM_004796.5):c.1393C>T (p.(Leu465Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001176" "0" "30" "14" "80130254" "80130254" "subst" "0" "01804" "NRXN3_000028" "g.80130254A>G" "" "" "" "NRXN3(NM_004796.5):c.2459A>G (p.(Gln820Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040122" "0" "50" "14" "78709618" "78709618" "subst" "7.76806E-5" "01804" "NRXN3_000029" "g.78709618C>T" "" "" "" "NRXN3(NM_001330195.2):c.182C>T (p.(Thr61Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040123" "0" "50" "14" "78744993" "78744993" "subst" "0.000105496" "01804" "NRXN3_000030" "g.78744993A>G" "" "" "" "NRXN3(NM_001330195.2):c.715A>G (p.(Ser239Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040124" "0" "50" "14" "79111529" "79111529" "subst" "0" "01804" "NRXN3_000031" "g.79111529C>T" "" "" "" "NRXN3(NM_001330195.2):c.824C>T (p.(Pro275Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040125" "0" "50" "14" "79175609" "79175609" "subst" "0.000231926" "01804" "NRXN3_000032" "g.79175609G>A" "" "" "" "NRXN3(NM_001330195.2):c.1271G>A (p.(Arg424Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040126" "0" "50" "14" "79175830" "79175830" "subst" "4.47125E-5" "01804" "NRXN3_000033" "g.79175830C>T" "" "" "" "NRXN3(NM_001330195.2):c.1492C>T (p.(Arg498Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040127" "0" "50" "14" "79269965" "79269965" "subst" "6.51901E-5" "01804" "NRXN3_000034" "g.79269965G>A" "" "" "" "NRXN3(NM_001330195.2):c.2047G>A (p.(Ala683Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040128" "0" "50" "14" "80327986" "80327986" "subst" "4.08253E-6" "01804" "NRXN3_000035" "g.80327986G>A" "" "" "" "NRXN3(NM_001330195.2):c.4395G>A (p.(Met1465Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040129" "0" "50" "14" "80328006" "80328006" "subst" "0" "01804" "NRXN3_000036" "g.80328006C>T" "" "" "" "NRXN3(NM_001330195.2):c.4415C>T (p.(Ala1472Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 NRXN3 ## Count = 36 "{{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}}" "0000013336" "00025445" "50" "429" "35043" "429" "35043" "c.429+35043A>G" "r.(=)" "p.(=)" "" "0000169053" "00025445" "70" "-570982" "0" "-570982" "0" "c.-570982A>G" "-" "-" "_1" "0000169064" "00025445" "70" "-311943" "0" "-311943" "0" "c.-311943A>G" "r.?" "p.?" "_1" "0000553178" "00025445" "30" "-629059" "0" "-629059" "0" "c.-629059C>A" "r.(?)" "p.(=)" "" "0000553179" "00025445" "30" "-571080" "0" "-571080" "0" "c.-571080G>C" "r.(?)" "p.(=)" "" "0000553180" "00025445" "30" "-313092" "0" "-313092" "0" "c.-313092del" "r.(?)" "p.(=)" "" "0000553181" "00025445" "30" "-313089" "0" "-313089" "0" "c.-313089C>T" "r.(?)" "p.(=)" "" "0000553182" "00025445" "30" "-313089" "0" "-313071" "0" "c.-313089_-313071del" "r.(?)" "p.(=)" "" "0000553183" "00025445" "30" "-313088" "0" "-313088" "0" "c.-313088C>T" "r.(?)" "p.(=)" "" "0000553184" "00025445" "30" "-313086" "0" "-313086" "0" "c.-313086A>T" "r.(?)" "p.(=)" "" "0000553185" "00025445" "50" "-311943" "0" "-311943" "0" "c.-311943A>G" "r.(?)" "p.(=)" "" "0000553186" "00025445" "30" "-292244" "0" "-292244" "0" "c.-292244T>G" "r.(?)" "p.(=)" "" "0000553187" "00025445" "50" "544" "0" "544" "0" "c.544G>A" "r.(?)" "p.(Gly182Ser)" "" "0000553188" "00025445" "10" "930" "0" "930" "0" "c.930T>C" "r.(?)" "p.(Thr310=)" "" "0000553189" "00025445" "50" "1079" "-343" "1079" "-342" "c.1079-343_1079-342del" "r.(=)" "p.(=)" "" "0000981032" "00025445" "10" "-1036947" "0" "-1036947" "0" "c.-1036947C>T" "r.(?)" "p.(=)" "" "0000981033" "00025445" "30" "-1036521" "0" "-1036521" "0" "c.-1036521C>T" "r.(?)" "p.(=)" "" "0000981034" "00025445" "50" "-635128" "0" "-635128" "0" "c.-635128T>C" "r.(?)" "p.(=)" "" "0000981035" "00025445" "50" "-634989" "0" "-634989" "0" "c.-634989C>T" "r.(?)" "p.(=)" "" "0000981036" "00025445" "50" "-634915" "0" "-634915" "0" "c.-634915G>A" "r.(?)" "p.(=)" "" "0000981037" "00025445" "30" "-634862" "0" "-634862" "0" "c.-634862T>C" "r.(?)" "p.(=)" "" "0000981038" "00025445" "30" "-570756" "0" "-570756" "0" "c.-570756A>C" "r.(?)" "p.(=)" "" "0000981039" "00025445" "50" "-322979" "0" "-322979" "0" "c.-322979C>T" "r.(?)" "p.(=)" "" "0001001172" "00025445" "50" "-571059" "0" "-571059" "0" "c.-571059A>G" "r.(?)" "p.(=)" "" "0001001173" "00025445" "50" "-570855" "0" "-570855" "0" "c.-570855A>G" "r.(?)" "p.(=)" "" "0001001174" "00025445" "30" "-476575" "0" "-476575" "0" "c.-476575G>A" "r.(?)" "p.(=)" "" "0001001175" "00025445" "50" "-314151" "0" "-314151" "0" "c.-314151C>T" "r.(?)" "p.(=)" "" "0001001176" "00025445" "30" "563" "0" "563" "0" "c.563A>G" "r.(?)" "p.(Gln188Arg)" "" "0001040122" "00025445" "50" "-1037017" "0" "-1037017" "0" "c.-1037017C>T" "r.(?)" "p.(=)" "" "0001040123" "00025445" "50" "-1001642" "0" "-1001642" "0" "c.-1001642A>G" "r.(?)" "p.(=)" "" "0001040124" "00025445" "50" "-635106" "0" "-635106" "0" "c.-635106C>T" "r.(?)" "p.(=)" "" "0001040125" "00025445" "50" "-571026" "0" "-571026" "0" "c.-571026G>A" "r.(?)" "p.(=)" "" "0001040126" "00025445" "50" "-570805" "0" "-570805" "0" "c.-570805C>T" "r.(?)" "p.(=)" "" "0001040127" "00025445" "50" "-476670" "0" "-476670" "0" "c.-476670G>A" "r.(?)" "p.(=)" "" "0001040128" "00025445" "50" "1079" "-20" "1079" "-20" "c.1079-20G>A" "r.(=)" "p.(=)" "" "0001040129" "00025445" "50" "1079" "0" "1079" "0" "c.1079C>T" "r.(?)" "p.(Ala360Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000000210" "0000013336" "0000104373" "0000169053" "0000104373" "0000169064"