### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NOS3) # 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}}" "NOS3" "nitric oxide synthase 3 (endothelial cell)" "7" "q36" "unknown" "NG_011992.1" "UD_132118621912" "" "https://www.LOVD.nl/NOs3" "Globin Gene Server databases \r\nHbVar " "1" "7876" "4846" "163729" "1" "1" "1" "1" "This gene is part of the Globin Gene Server databases.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/NOS3_codingDNA.html" "1" "" "This gene is part of the Globin Gene Server databases." "-1" "" "-1" "00001" "2009-02-18 00:00:00" "00006" "2019-11-01 10:43:49" "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}}" "00014695" "NOS3" "transcript variant 1" "001" "NM_000603.4" "" "NP_000594.2" "" "" "" "-296" "4042" "3612" "150688144" "150711687" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00104" "EHT" "hypertension, essential, susceptibility to (EHT)" "Mu" "145500" "" "" "" "00001" "2013-01-20 16:12:35" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00204" "AD" "Alzheimer disease (AD)" "AD" "104300" "" "" "" "00006" "2013-09-24 20:52:38" "00006" "2021-12-10 21:51:32" "01587" "PEE1" "preeclampsia/eclampsia, type 1 (PEE-1)" "AD" "189800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02354" "-" "stroke, ischemic, susceptibility to" "Mu" "601367" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05467" "Behcet" "Behcet syndrome" "" "109650" "" "" "" "00006" "2018-08-22 09:45:03" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "NOS3" "00104" "NOS3" "00204" "NOS3" "01587" "NOS3" "02354" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00180437" "" "" "" "21" "" "02555" "{PMID:Chung 2003:14583572}" "Korean cohortcohort" "F;M" "" "Korea" "" "0" "{DB:Uveo2416?snp=rs1799983&t=1535288473}" "" "Korean" "" "00180448" "" "" "" "101" "" "02555" "{PMID:Doganavsargil 2006:17067432}" "Turkish cohort" "F;M" "" "Turkey" "" "0" "{DB:Uveo3135?snp=rs1799983%20&t=1535334232}" "" "Turkish" "" "00180468" "" "" "" "145" "" "02555" "{PMID:Hamzaoui 2008:18718857}" "Tunisian cohort" "F;M" "" "Tunisia" "" "0" "{DB:Uveo2543?snp=rs1799983%20&t=1535362019}" "" "Tunisian" "" "00180489" "" "" "" "79" "" "02555" "{PMID:Kaabachi 2015:25799145}" "Western European, Middle Eastern and Turkish cohort" "F;M" "" "Turkey" "" "0" "{DB:Uveo2762?snp=rs1799983&t=1535686215}" "" "Western Europeans, Middle Eastern and Turkish" "" "00180521" "" "" "" "53" "" "02555" "{PMID:Macchioni 2002:11908569}" "Italian cohort" "F;M" "" "Italy" "" "0" "{DB:Uveo3050?snp=rs1799983&t=1535285860}" "" "Italian" "" "00267109" "" "" "" "1" "" "03464" "{PMID:Sebastiani 2008:17918249}" "associated analtysis fetal hemoglobin (HbF) level" "" "" "" "" "0" "" "" "" "" "00267110" "" "" "" "1" "" "03464" "{PMID:Sebastiani 2008:17918249}" "associated analtysis fetal hemoglobin (HbF) level" "" "" "" "" "0" "" "" "" "" "00267111" "" "" "" "1" "" "03464" "{PMID:Sebastiani 2008:17918249}" "associated analtysis fetal hemoglobin (HbF) level" "" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00180437" "05467" "00180448" "05467" "00180468" "05467" "00180489" "05467" "00180521" "05467" "00267109" "00198" "00267110" "00198" "00267111" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00104, 00198, 00204, 01587, 02354, 05467 ## Count = 5 "{{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}}" "0000142832" "05467" "00180437" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Behcet disease" "" "0000142843" "05467" "00180448" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Behcet disease" "" "0000142863" "05467" "00180468" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Behcet disease" "" "0000142884" "05467" "00180489" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Behcet disease" "" "0000142916" "05467" "00180521" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Behcet disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000181374" "00180437" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" "" "0000181385" "00180448" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" "" "0000181405" "00180468" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" "" "0000181426" "00180489" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" "" "0000181458" "00180521" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" "" "0000268238" "00267109" "1" "03464" "00006" "2019-11-01 13:08:02" "" "" "?" "DNA" "" "" "0000268239" "00267110" "1" "03464" "00006" "2019-11-01 13:08:02" "" "" "?" "DNA" "" "" "0000268240" "00267111" "1" "03464" "00006" "2019-11-01 13:08:02" "" "" "?" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000181374" "NOS3" "0000181385" "NOS3" "0000181405" "SUMO4" "0000181426" "NOS3" "0000181458" "NOS3" "0000268238" "NOS3" "0000268239" "NOS3" "0000268240" "NOS3" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 33 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000331961" "0" "50" "7" "150700484" "150700484" "subst" "0.00240067" "01804" "NOS3_000004" "g.150700484G>A" "" "" "" "NOS3(NM_001160110.1):c.1838G>A (p.(Arg613Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151003396G>A" "" "VUS" "" "0000331962" "0" "50" "7" "150706321" "150706321" "subst" "0.000703475" "01804" "NOS3_000005" "g.150706321C>T" "" "" "" "NOS3(NM_000603.4):c.2290C>T (p.(Arg764Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151009233C>T" "" "VUS" "" "0000331963" "0" "50" "7" "150721489" "150721489" "subst" "0.00159839" "01804" "ATG9B_000001" "g.150721489C>G" "" "" "" "ATG9B(NM_173681.5):c.22G>C (p.(Gly8Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151024402C>G" "" "VUS" "" "0000405070" "0" "50" "7" "150696111" "150696111" "subst" "0" "02555" "NOS3_000006" "g.150696111T>A" "21/130 cases" "{PMID:Chung 2003:14583572}" "" "" "{DB:Uveo2416?snp=rs1799983&t=1535288473}" "Germline" "" "rs1799983" "0" "" "" "g.150999023T>A" "" "VUS" "" "0000405081" "0" "50" "7" "150696111" "150696111" "subst" "0" "02555" "NOS3_000006" "g.150696111T>A" "101/264 cases" "{PMID:Doganavsargil 2006:17067432}" "" "" "{DB:Uveo3135?snp=rs1799983%20&t=1535334232}" "Germline" "" "rs1799983" "0" "" "" "g.150999023T>A" "" "VUS" "" "0000405101" "0" "50" "7" "150696111" "150696111" "subst" "0" "02555" "NOS3_000006" "g.150696111T>A" "145/270 cases" "{PMID:Hamzaoui 2008:18718857}" "" "" "{DB:Uveo2543?snp=rs1799983%20&t=1535362019}" "Germline" "" "rs1799983" "0" "" "" "g.150999023T>A" "" "VUS" "" "0000405122" "0" "50" "7" "150696111" "150696111" "subst" "0" "02555" "NOS3_000006" "g.150696111T>A" "79/200 cases" "{PMID:Kaabachi 2015:25799145}" "" "" "{DB:Uveo2762?snp=rs1799983&t=1535686215}" "Germline" "" "rs1799983" "0" "" "" "g.150999023T>A" "" "VUS" "" "0000405154" "0" "50" "7" "150696111" "150696111" "subst" "0" "02555" "NOS3_000006" "g.150696111T>A" "53/146 cases" "{PMID:Macchioni 2002:11908569}" "" "" "{DB:Uveo3050?snp=rs1799983&t=1535285860}" "Germline" "" "rs1799983" "0" "" "" "g.150999023T>A" "" "VUS" "" "0000531294" "0" "30" "7" "150693603" "150693603" "subst" "0.000297337" "02325" "ATG9B_000002" "g.150693603C>T" "" "" "" "NOS3(NM_000603.5):c.382C>T (p.R128W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150996515C>T" "" "likely benign" "" "0000531295" "0" "10" "7" "150698349" "150698349" "subst" "0.0038848" "02325" "ATG9B_000003" "g.150698349G>A" "" "" "" "NOS3(NM_000603.5):c.1264G>A (p.A422T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151001261G>A" "" "benign" "" "0000531296" "0" "30" "7" "150704235" "150704235" "subst" "4.06924E-6" "02325" "ATG9B_000004" "g.150704235C>T" "" "" "" "NOS3(NM_000603.5):c.1983C>T (p.C661=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151007147C>T" "" "likely benign" "" "0000531297" "0" "30" "7" "150704277" "150704277" "subst" "0.000396897" "02325" "ATG9B_000005" "g.150704277C>T" "" "" "" "NOS3(NM_000603.5):c.2025C>T (p.G675=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151007189C>T" "" "likely benign" "" "0000531298" "0" "50" "7" "150707755" "150707755" "subst" "4.31827E-6" "02325" "ATG9B_000006" "g.150707755C>G" "" "" "" "NOS3(NM_000603.5):c.2756C>G (p.P919R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151010667C>G" "" "VUS" "" "0000531299" "0" "30" "7" "150707837" "150707837" "subst" "0.000102382" "02325" "ATG9B_000007" "g.150707837C>T" "" "" "" "NOS3(NM_000603.5):c.2838C>T (p.P946=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151010749C>T" "" "likely benign" "" "0000531300" "0" "30" "7" "150711113" "150711113" "subst" "0.000574025" "02325" "ATG9B_000008" "g.150711113C>T" "" "" "" "NOS3(NM_000603.5):c.3468C>T (p.H1156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151014025C>T" "" "likely benign" "" "0000531301" "0" "30" "7" "150713771" "150713771" "subst" "0.000812678" "01804" "ATG9B_000009" "g.150713771C>G" "" "" "" "ATG9B(NM_173681.5):c.2422+5G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151016683C>G" "" "likely benign" "" "0000531302" "0" "30" "7" "150715141" "150715141" "subst" "0.000195048" "01804" "ATG9B_000010" "g.150715141G>C" "" "" "" "ATG9B(NM_173681.5):c.1873-4C>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151018054G>C" "" "likely benign" "" "0000600915" "0" "50" "7" "150705610" "150705610" "subst" "0" "03464" "NOS3_000001" "g.150705610T>C" "" "{PMID:Sebastiani 2008:17918249}" "" "" "" "Germline" "" "rs1008140" "0" "" "" "g.151008522T>C" "" "VUS" "" "0000600916" "0" "50" "7" "150707488" "150707488" "subst" "0" "03464" "NOS3_000002" "g.150707488C>T" "" "{PMID:Sebastiani 2008:17918249}" "" "" "" "Germline" "" "rs743507" "0" "" "" "g.151010400C>T" "" "VUS" "" "0000600917" "0" "50" "7" "150708302" "150708302" "subst" "0" "03464" "NOS3_000003" "g.150708302G>T" "" "{PMID:Sebastiani 2008:17918249}" "" "" "" "Germline" "" "" "0" "" "" "g.151011214G>T" "" "VUS" "" "0000689948" "0" "30" "7" "150706014" "150706014" "subst" "0.00031092" "02325" "ATG9B_000011" "g.150706014G>A" "" "" "" "NOS3(NM_000603.5):c.2113-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802995" "0" "50" "7" "150697616" "150697616" "subst" "0.000203391" "01943" "ATG9B_000012" "g.150697616C>T" "" "" "" "NOS3(NM_000603.4):c.1162C>T (p.R388W), NOS3(NM_000603.5):c.1162C>T (p.R388W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802996" "0" "30" "7" "150706272" "150706272" "subst" "4.06616E-6" "02325" "ATG9B_000013" "g.150706272C>T" "" "" "" "NOS3(NM_000603.5):c.2246-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887741" "0" "30" "7" "150694018" "150694018" "subst" "6.33048E-5" "02325" "ATG9B_000014" "g.150694018G>A" "" "" "" "NOS3(NM_000603.5):c.582+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887742" "0" "30" "7" "150706640" "150706640" "subst" "0.00309361" "02325" "ATG9B_000015" "g.150706640G>A" "" "" "" "NOS3(NM_000603.5):c.2479G>A (p.V827M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887743" "0" "50" "7" "150707251" "150707251" "subst" "0.000228822" "01804" "ATG9B_000016" "g.150707251C>T" "" "" "" "NOS3(NM_000603.4):c.2561C>T (p.(Thr854Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912686" "0" "30" "7" "150697616" "150697616" "subst" "0.000203391" "02325" "ATG9B_000012" "g.150697616C>T" "" "" "" "NOS3(NM_000603.4):c.1162C>T (p.R388W), NOS3(NM_000603.5):c.1162C>T (p.R388W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912687" "0" "50" "7" "150697687" "150697687" "subst" "2.85782E-5" "02325" "ATG9B_000017" "g.150697687G>C" "" "" "" "NOS3(NM_000603.5):c.1233G>C (p.Q411H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025358" "0" "10" "7" "150696111" "150696111" "subst" "0.749706" "02326" "ATG9B_000018" "g.150696111T>G" "" "" "" "NOS3(NM_000603.5):c.894T>G (p.D298E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001036193" "0" "30" "7" "150696067" "150696067" "subst" "0.000134693" "01804" "ATG9B_000019" "g.150696067G>A" "" "" "" "NOS3(NM_000603.5):c.850G>A (p.(Gly284Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036194" "0" "30" "7" "150706267" "150706267" "subst" "4.06663E-6" "01804" "ATG9B_000020" "g.150706267C>T" "" "" "" "NOS3(NM_000603.5):c.2246-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036195" "0" "50" "7" "150706632" "150706632" "subst" "0.000280667" "01804" "ATG9B_000021" "g.150706632C>T" "" "" "" "NOS3(NM_000603.5):c.2471C>T (p.(Thr824Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036196" "0" "30" "7" "150716029" "150716029" "subst" "0.00027584" "01804" "ATG9B_000022" "g.150716029C>G" "" "" "" "ATG9B(NM_001317056.1):c.1396G>C (p.(Val466Leu))" "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 NOS3 ## Count = 33 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000331961" "00014695" "50" "1752" "1092" "1752" "1092" "c.1752+1092G>A" "r.(=)" "p.(=)" "" "0000331962" "00014695" "50" "2290" "0" "2290" "0" "c.2290C>T" "r.(?)" "p.(Arg764Cys)" "" "0000331963" "00014695" "50" "13844" "0" "13844" "0" "c.*10232C>G" "r.(=)" "p.(=)" "" "0000405070" "00014695" "00" "894" "0" "894" "0" "c.894T>A" "r.(?)" "p.(Asp298Glu)" "" "0000405081" "00014695" "00" "894" "0" "894" "0" "c.894T>A" "r.(?)" "p.(Asp298Glu)" "" "0000405101" "00014695" "00" "894" "0" "894" "0" "c.894T>A" "r.(?)" "p.(Asp298Glu)" "" "0000405122" "00014695" "00" "894" "0" "894" "0" "c.894T>A" "r.(?)" "p.(Asp298Glu)" "" "0000405154" "00014695" "00" "894" "0" "894" "0" "c.894T>A" "r.(?)" "p.(Asp298Glu)" "" "0000531294" "00014695" "30" "382" "0" "382" "0" "c.382C>T" "r.(?)" "p.(Arg128Trp)" "" "0000531295" "00014695" "10" "1264" "0" "1264" "0" "c.1264G>A" "r.(?)" "p.(Ala422Thr)" "" "0000531296" "00014695" "30" "1983" "0" "1983" "0" "c.1983C>T" "r.(?)" "p.(Cys661=)" "" "0000531297" "00014695" "30" "2025" "0" "2025" "0" "c.2025C>T" "r.(?)" "p.(Gly675=)" "" "0000531298" "00014695" "50" "2756" "0" "2756" "0" "c.2756C>G" "r.(?)" "p.(Pro919Arg)" "" "0000531299" "00014695" "30" "2838" "0" "2838" "0" "c.2838C>T" "r.(?)" "p.(Pro946=)" "" "0000531300" "00014695" "30" "3468" "0" "3468" "0" "c.3468C>T" "r.(?)" "p.(His1156=)" "" "0000531301" "00014695" "30" "6126" "0" "6126" "0" "c.*2514C>G" "r.(=)" "p.(=)" "" "0000531302" "00014695" "30" "7496" "0" "7496" "0" "c.*3884G>C" "r.(=)" "p.(=)" "" "0000600915" "00014695" "50" "2113" "-408" "2113" "-408" "c.2113-408T>C" "r.(?)" "p.(=)" "" "0000600916" "00014695" "50" "2685" "113" "2685" "113" "c.2685+113C>T" "r.(?)" "p.(=)" "" "0000600917" "00014695" "50" "2984" "228" "2984" "228" "c.2984+228G>T" "r.(?)" "p.(=)" "" "0000689948" "00014695" "30" "2113" "-4" "2113" "-4" "c.2113-4G>A" "r.spl?" "p.?" "" "0000802995" "00014695" "50" "1162" "0" "1162" "0" "c.1162C>T" "r.(?)" "p.(Arg388Trp)" "" "0000802996" "00014695" "30" "2246" "-5" "2246" "-5" "c.2246-5C>T" "r.spl?" "p.?" "" "0000887741" "00014695" "30" "582" "5" "582" "5" "c.582+5G>A" "r.spl?" "p.?" "" "0000887742" "00014695" "30" "2479" "0" "2479" "0" "c.2479G>A" "r.(?)" "p.(Val827Met)" "" "0000887743" "00014695" "50" "2561" "0" "2561" "0" "c.2561C>T" "r.(?)" "p.(Thr854Met)" "" "0000912686" "00014695" "30" "1162" "0" "1162" "0" "c.1162C>T" "r.(?)" "p.(Arg388Trp)" "" "0000912687" "00014695" "50" "1233" "0" "1233" "0" "c.1233G>C" "r.(?)" "p.(Gln411His)" "" "0001025358" "00014695" "10" "894" "0" "894" "0" "c.894T>G" "r.(?)" "p.(Asp298Glu)" "" "0001036193" "00014695" "30" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Ser)" "" "0001036194" "00014695" "30" "2246" "-10" "2246" "-10" "c.2246-10C>T" "r.(=)" "p.(=)" "" "0001036195" "00014695" "50" "2471" "0" "2471" "0" "c.2471C>T" "r.(?)" "p.(Thr824Ile)" "" "0001036196" "00014695" "30" "8384" "0" "8384" "0" "c.*4772C>G" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000181374" "0000405070" "0000181385" "0000405081" "0000181405" "0000405101" "0000181426" "0000405122" "0000181458" "0000405154" "0000268238" "0000600915" "0000268239" "0000600916" "0000268240" "0000600917"