### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SYN1) # 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}}" "SYN1" "synapsin I" "X" "p11.2" "unknown" "NG_008437.1" "UD_132118384793" "" "https://www.LOVD.nl/SYN1" "" "1" "11494" "6853" "313440" "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/SYN1_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2017-07-11 12:16:59" "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}}" "00000346" "SYN1" "transcript variant Ia" "002" "NM_006950.3" "" "NP_008881.2" "" "" "" "-129" "3081" "2118" "47431300" "47479256" "00000" "2012-09-13 12:08:54" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "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" "02159" "-" "epilepsy, X-linked, with variable learning disabilities and behavior disorders" "XLD;XLR" "300491" "" "" "" "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 = 1 "{{geneid}}" "{{diseaseid}}" "SYN1" "02159" ## Individuals ## Do not remove or alter this header ## ## Count = 13 "{{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" "" "" "" "" "00106762" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377229-Pat?" "00106763" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377230-Pat?" "00106764" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377231-Pat?" "00106765" "" "" "" "68" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377232-Pat?" "00106766" "" "" "" "1" "" "02142" "" "" "M" "" "Belgium" "" "0" "" "" "" "" "00144437" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00172480" "" "" "" "2" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172481" "" "" "" "62" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172482" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172483" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00295068" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 13 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00106762" "00187" "00106763" "00187" "00106764" "00187" "00106765" "00187" "00106766" "00187" "00144437" "00198" "00172480" "00187" "00172481" "00187" "00172482" "00187" "00172483" "00187" "00295068" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 00198, 01157, 02159 ## Count = 8 "{{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}}" "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" "" "" "" "" "" "" "" "" "" "0000084564" "00187" "00106766" "02142" "Familial, X-linked recessive" "" "nonsyndromic intellectual disability (ID)" "" "" "" "" "" "" "" "" "" "" "" "" "0000117205" "00198" "00144437" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Seizures (HP:0001250); Intellectual disability (HP:0001249)" "" "" "" "" "" "" "" "" "" "" "" "" "0000137344" "00187" "00172480" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137345" "00187" "00172481" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137346" "00187" "00172482" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137347" "00187" "00172483" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" ## Screenings ## Do not remove or alter this header ## ## Count = 13 "{{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" "" "" "0000107233" "00106762" "0" "00124" "00124" "2009-04-08 14:04:23" "" "" "SEQ" "DNA" "" "" "0000107234" "00106763" "0" "00124" "00124" "2009-04-08 14:04:23" "" "" "SEQ" "DNA" "" "" "0000107235" "00106764" "0" "00124" "00124" "2009-04-08 14:04:23" "" "" "SEQ" "DNA" "" "" "0000107236" "00106765" "0" "00124" "00124" "2009-04-08 14:04:23" "" "" "SEQ" "DNA" "" "" "0000107237" "00106766" "0" "02142" "02142" "2017-07-10 17:30:13" "" "" "SEQ" "DNA" "" "" "0000145295" "00144437" "0" "01807" "01807" "2017-12-13 15:18:07" "" "" "SEQ" "DNA" "" "" "0000173363" "00172480" "1" "00124" "00006" "2009-04-08 14:04:23" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000173364" "00172481" "1" "00124" "00006" "2009-04-08 14:04:23" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000173365" "00172482" "1" "00124" "00006" "2009-04-08 14:04:23" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173366" "00172483" "1" "00124" "00006" "2009-04-08 14:04:23" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000296236" "00295068" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000107233" "SYN1" "0000107234" "SYN1" "0000107235" "SYN1" "0000107236" "SYN1" "0000107237" "SYN1" "0000173363" "TIMP1" "0000173364" "TSPAN6" "0000173365" "TSPAN6" "0000173366" "TSPAN6" ## 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 = 131 "{{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}}" "0000001897" "20" "50" "X" "47464292" "47464292" "del" "0" "00037" "SYN1_000016" "g.47464292del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47604893del" "" "VUS" "" "0000002919" "20" "50" "X" "47464291" "47464291" "del" "0" "00037" "SYN1_000010" "g.47464291del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47604892del" "" "VUS" "" "0000006701" "20" "50" "X" "47432747" "47432747" "subst" "0" "00037" "SYN1_000011" "g.47432747A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47573348A>G" "" "VUS" "" "0000006702" "20" "50" "X" "47443111" "47443111" "subst" "0" "00037" "SYN1_000012" "g.47443111G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47583712G>A" "" "VUS" "" "0000006703" "20" "50" "X" "47444879" "47444879" "subst" "0.469662" "00037" "TIMP1_000001" "g.47444879G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47585480G>C" "" "VUS" "" "0000006704" "20" "50" "X" "47444985" "47444985" "subst" "0.463221" "00037" "TIMP1_000002" "g.47444985T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47585586T>C" "" "VUS" "" "0000006705" "20" "50" "X" "47445286" "47445286" "subst" "0.460146" "00037" "TIMP1_000003" "g.47445286A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47585887A>G" "" "VUS" "" "0000006706" "20" "50" "X" "47446519" "47446519" "subst" "0" "00037" "SYN1_000013" "g.47446519T>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47587120T>G" "" "VUS" "" "0000006707" "20" "50" "X" "47446653" "47446653" "subst" "0" "00037" "SYN1_000014" "g.47446653G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47587254G>A" "" "VUS" "" "0000006708" "20" "50" "X" "47466361" "47466361" "subst" "0.371697" "00037" "SYN1_000017" "g.47466361A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47606962A>G" "" "VUS" "" "0000006709" "20" "50" "X" "47466878" "47466878" "subst" "0" "00037" "SYN1_000018" "g.47466878T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47607479T>C" "" "VUS" "" "0000006710" "20" "50" "X" "47466918" "47466918" "subst" "0" "00037" "SYN1_000019" "g.47466918C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47607519C>T" "" "VUS" "" "0000008766" "20" "50" "X" "47443111" "47443111" "subst" "0" "00037" "TIMP1_000004" "g.47443111G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47583712G>A" "" "VUS" "" "0000008767" "20" "50" "X" "47444879" "47444879" "subst" "0.469662" "00037" "TIMP1_000001" "g.47444879G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47585480G>C" "" "VUS" "" "0000008768" "20" "50" "X" "47444985" "47444985" "subst" "0.463221" "00037" "TIMP1_000002" "g.47444985T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47585586T>C" "" "VUS" "" "0000008769" "20" "50" "X" "47445286" "47445286" "subst" "0.460146" "00037" "TIMP1_000003" "g.47445286A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47585887A>G" "" "VUS" "" "0000008770" "20" "50" "X" "47446519" "47446519" "subst" "0" "00037" "SYN1_000013" "g.47446519T>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47587120T>G" "" "VUS" "" "0000008771" "20" "50" "X" "47464291" "47464291" "del" "0" "00037" "SYN1_000010" "g.47464291del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47604892del" "" "VUS" "" "0000008772" "20" "50" "X" "47466361" "47466361" "subst" "0.371697" "00037" "SYN1_000017" "g.47466361A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47606962A>G" "" "VUS" "" "0000008773" "20" "50" "X" "47466878" "47466878" "subst" "0" "00037" "SYN1_000018" "g.47466878T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47607479T>C" "" "VUS" "" "0000014678" "20" "50" "X" "47466918" "47466918" "subst" "0" "00037" "SYN1_000019" "g.47466918C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47607519C>T" "" "VUS" "" "0000173003" "1" "30" "X" "47435581" "47435581" "subst" "0.000957896" "00124" "SYN1_000001" "g.47435581G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "I369I" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.47576182G>A" "" "likely benign" "" "0000173004" "1" "30" "X" "47433961" "47433961" "subst" "0" "00124" "SYN1_000002" "g.47433961G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "P474P" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.47574562G>A" "" "likely benign" "" "0000173005" "1" "30" "X" "47466549" "47466549" "subst" "0.00122004" "00124" "SYN1_000003" "g.47466549T>C" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "K142K" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.47607150T>C" "" "likely benign" "" "0000173006" "1" "30" "X" "47466361" "47466361" "subst" "0.371697" "00124" "SYN1_000004" "g.47466361A>G" "68/208 cases" "{PMID:Tarpey 2009:19377476}" "" "N170N" "recurrent, found 68 times" "Germline" "" "" "0" "" "" "g.47606962A>G" "" "likely benign" "" "0000173007" "21" "70" "X" "47478892" "47478892" "subst" "0" "02142" "SYN1_000005" "g.47478892G>C" "" "" "" "NG_008437.1(SYN1_v001):c.236C>G" "" "Germline" "" "" "0" "" "" "g.47619493G>C" "" "likely pathogenic" "" "0000236394" "3" "70" "X" "47479126" "47479126" "del" "0" "01807" "SYN1_000020" "g.47479126del" "" "" "" "2delT (Met1fs)" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.47619727del" "" "likely pathogenic" "" "0000248737" "0" "10" "X" "47466361" "47466361" "subst" "0.371697" "02325" "SYN1_000004" "g.47466361A>G" "" "" "" "SYN1(NM_006950.3):c.510T>C (p.N170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47606962A>G" "" "benign" "" "0000249414" "0" "30" "X" "47433754" "47433754" "subst" "0" "02325" "SYN1_000025" "g.47433754A>G" "" "" "" "SYN1(NM_006950.3):c.1629T>C (p.P543=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47574355A>G" "" "likely benign" "" "0000250796" "0" "30" "X" "47466421" "47466421" "subst" "5.61971E-6" "02326" "SYN1_000044" "g.47466421A>C" "" "" "" "SYN1(NM_006950.3):c.450T>G (p.D150E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47607022A>C" "" "likely benign" "" "0000252358" "0" "30" "X" "47464562" "47464562" "subst" "0" "02326" "SYN1_000039" "g.47464562A>G" "" "" "" "SYN1(NM_006950.3):c.684+60T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47605163A>G" "" "likely benign" "" "0000252359" "0" "30" "X" "47479208" "47479208" "subst" "0" "02326" "SYN1_000046" "g.47479208A>G" "" "" "" "SYN1(NM_006950.3):c.-81T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47619809A>G" "" "likely benign" "" "0000254015" "0" "30" "X" "47466421" "47466421" "subst" "5.61971E-6" "01943" "SYN1_000044" "g.47466421A>C" "" "" "" "SYN1(NM_006950.3):c.450T>G (p.D150E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47607022A>C" "" "likely benign" "" "0000254380" "0" "30" "X" "47430813" "47430813" "subst" "0" "01943" "ARAF_000005" "g.47430813A>C" "" "" "" "ARAF(NM_001256196.1):c.1787A>C (p.E596A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47571414A>C" "" "likely benign" "" "0000262824" "0" "30" "X" "47424193" "47424193" "subst" "0" "01943" "ARAF_000002" "g.47424193C>T" "" "" "" "ARAF(NM_001256196.1):c.201-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47564794C>T" "" "likely benign" "" "0000262825" "0" "30" "X" "47426462" "47426462" "subst" "0" "01943" "ARAF_000003" "g.47426462T>G" "" "" "" "ARAF(NM_001256196.1):c.814T>G (p.S272A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47567063T>G" "" "likely benign" "" "0000266697" "0" "10" "X" "47483800" "47483800" "subst" "0.224261" "02325" "CFP_000002" "g.47483800G>A" "" "" "" "CFP(NM_002621.2):c.1284C>T (p.N428=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47624401G>A" "" "benign" "" "0000311622" "0" "30" "X" "47432385" "47432385" "subst" "0" "02325" "SYN1_000023" "g.47432385G>A" "" "" "" "SYN1(NM_006950.3):c.1996C>T (p.L666=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47572986G>A" "" "likely benign" "" "0000314232" "0" "30" "X" "47479155" "47479155" "subst" "0" "02326" "SYN1_000045" "g.47479155G>C" "" "" "" "SYN1(NM_006950.3):c.-28C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47619756G>C" "" "likely benign" "" "0000314233" "0" "30" "X" "47432152" "47432152" "subst" "0" "02326" "SYN1_000021" "g.47432152G>A" "" "" "" "SYN1(NM_006950.3):c.*111C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47572753G>A" "" "likely benign" "" "0000314234" "0" "10" "X" "47432215" "47432215" "subst" "0.00341238" "02326" "SYN1_000022" "g.47432215G>T" "" "" "" "SYN1(NM_006950.3):c.*48C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47572816G>T" "" "benign" "" "0000314235" "0" "30" "X" "47435581" "47435581" "subst" "0.000957896" "02326" "SYN1_000001" "g.47435581G>A" "" "" "" "SYN1(NM_006950.3):c.1107C>T (p.I369=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47576182G>A" "" "likely benign" "" "0000314236" "0" "90" "X" "47434568" "47434568" "subst" "7.05562E-6" "02326" "SYN1_000029" "g.47434568G>A" "" "" "" "SYN1(NM_006950.3):c.1264C>T (p.R422*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47575169G>A" "" "pathogenic" "" "0000314237" "0" "30" "X" "47434413" "47434413" "subst" "0" "02326" "SYN1_000028" "g.47434413G>A" "" "" "" "SYN1(NM_006950.3):c.1305+114C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47575014G>A" "" "likely benign" "" "0000314238" "0" "30" "X" "47433768" "47433768" "subst" "0.000533618" "02326" "SYN1_000026" "g.47433768C>T" "" "" "" "SYN1(NM_006950.3):c.1615G>A (p.G539S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47574369C>T" "" "likely benign" "" "0000314239" "0" "30" "X" "47433684" "47433684" "subst" "0.00120518" "02326" "SYN1_000024" "g.47433684T>C" "" "" "" "SYN1(NM_006950.3):c.1699A>G (p.T567A, p.(Thr567Ala)), SYN1(NM_133499.2):c.1699A>G (p.T567A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47574285T>C" "" "likely benign" "" "0000314240" "0" "30" "X" "47466549" "47466549" "subst" "0.00122004" "02326" "SYN1_000003" "g.47466549T>C" "" "" "" "SYN1(NM_006950.3):c.426A>G (p.K142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47607150T>C" "" "likely benign" "" "0000314241" "0" "30" "X" "47466399" "47466399" "subst" "0" "02326" "SYN1_000043" "g.47466399T>G" "" "" "" "SYN1(NM_006950.3):c.472A>C (p.N158H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47607000T>G" "" "likely benign" "" "0000314242" "0" "30" "X" "47464707" "47464707" "subst" "0" "02326" "SYN1_000040" "g.47464707C>T" "" "" "" "SYN1(NM_006950.3):c.599G>A (p.S200N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47605308C>T" "" "likely benign" "" "0000314243" "0" "30" "X" "47444923" "47444923" "subst" "0.0195685" "02326" "SYN1_000033" "g.47444923G>A" "" "" "" "SYN1(NM_006950.3):c.775-8023C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47585524G>A" "" "likely benign" "" "0000314244" "0" "30" "X" "47445021" "47445021" "subst" "0" "02326" "SYN1_000035" "g.47445021C>G" "" "" "" "SYN1(NM_006950.3):c.775-8121G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47585622C>G" "" "likely benign" "" "0000314245" "0" "30" "X" "47445297" "47445297" "subst" "0" "02326" "SYN1_000036" "g.47445297C>T" "" "" "" "SYN1(NM_006950.3):c.775-8397G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47585898C>T" "" "likely benign" "" "0000314246" "0" "30" "X" "47436173" "47436173" "subst" "0" "02326" "SYN1_000031" "g.47436173C>T" "" "" "" "SYN1(NM_006950.3):c.838-134G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47576774C>T" "" "likely benign" "" "0000314247" "0" "30" "X" "47435883" "47435883" "subst" "0.000682395" "02326" "SYN1_000030" "g.47435883G>A" "" "" "" "SYN1(NM_006950.3):c.980+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47576484G>A" "" "likely benign" "" "0000315948" "0" "30" "X" "47435581" "47435581" "subst" "0.000957896" "01943" "SYN1_000001" "g.47435581G>A" "" "" "" "SYN1(NM_006950.3):c.1107C>T (p.I369=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47576182G>A" "" "likely benign" "" "0000315949" "0" "10" "X" "47433684" "47433684" "subst" "0.00120518" "01943" "SYN1_000024" "g.47433684T>C" "" "" "" "SYN1(NM_006950.3):c.1699A>G (p.T567A, p.(Thr567Ala)), SYN1(NM_133499.2):c.1699A>G (p.T567A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47574285T>C" "" "benign" "" "0000315950" "0" "30" "X" "47466549" "47466549" "subst" "0.00122004" "01943" "SYN1_000003" "g.47466549T>C" "" "" "" "SYN1(NM_006950.3):c.426A>G (p.K142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47607150T>C" "" "likely benign" "" "0000315951" "0" "30" "X" "47466399" "47466399" "subst" "0" "01943" "SYN1_000043" "g.47466399T>G" "" "" "" "SYN1(NM_006950.3):c.472A>C (p.N158H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47607000T>G" "" "likely benign" "" "0000315952" "0" "50" "X" "47464725" "47464725" "subst" "0" "01943" "SYN1_000041" "g.47464725C>T" "" "" "" "SYN1(NM_006950.3):c.581G>A (p.R194H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47605326C>T" "" "VUS" "" "0000316618" "0" "30" "X" "47444361" "47444361" "subst" "0.000758875" "01943" "SYN1_000032" "g.47444361C>T" "" "" "" "SYN1(NM_006950.3):c.775-7461G>A (p.(=)), TIMP1(NM_003254.2):c.148C>T (p.P50S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47584962C>T" "" "likely benign" "" "0000316619" "0" "30" "X" "47446020" "47446020" "subst" "3.93148E-5" "01943" "SYN1_000037" "g.47446020G>A" "" "" "" "TIMP1(NM_003254.2):c.554G>A (p.R185H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47586621G>A" "" "likely benign" "" "0000333921" "0" "50" "X" "47426765" "47426765" "subst" "0" "01804" "ARAF_000004" "g.47426765T>C" "" "" "" "ARAF(NM_001256196.1):c.1019T>C (p.(Val340Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47567366T>C" "" "VUS" "" "0000333923" "0" "50" "X" "47444361" "47444361" "subst" "0.000758875" "01804" "SYN1_000032" "g.47444361C>T" "" "" "" "SYN1(NM_006950.3):c.775-7461G>A (p.(=)), TIMP1(NM_003254.2):c.148C>T (p.P50S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47584962C>T" "" "VUS" "" "0000333925" "0" "50" "X" "47446040" "47446040" "subst" "0.000163229" "01804" "SYN1_000038" "g.47446040C>T" "" "" "" "TIMP1(NM_003254.2):c.574C>T (p.(Arg192Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47586641C>T" "" "VUS" "" "0000333926" "0" "50" "X" "47464726" "47464726" "subst" "3.41103E-5" "01804" "SYN1_000042" "g.47464726G>A" "" "" "" "SYN1(NM_006950.3):c.580C>T (p.(Arg194Cys), p.R194C), SYN1(NM_133499.2):c.580C>T (p.R194C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47605327G>A" "" "VUS" "" "0000342172" "0" "50" "X" "47464726" "47464726" "subst" "3.41103E-5" "02327" "SYN1_000042" "g.47464726G>A" "" "" "" "SYN1(NM_006950.3):c.580C>T (p.(Arg194Cys), p.R194C), SYN1(NM_133499.2):c.580C>T (p.R194C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47605327G>A" "" "VUS" "" "0000348469" "0" "30" "X" "47433945" "47433945" "subst" "0" "02327" "SYN1_000047" "g.47433945G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47574546G>A" "" "likely benign" "" "0000393220" "1" "30" "X" "47444663" "47444663" "subst" "0.0135609" "00124" "SYN1_000048" "g.47444663C>T" "2/208 cases" "{PMID:Tarpey 2009:19377476}" "" "P87P" "recurrent, found 2 times" "Germline" "" "" "0" "" "" "g.47585264C>T" "" "likely benign" "" "0000393221" "1" "30" "X" "47444985" "47444985" "subst" "0.463221" "00124" "TIMP1_000002" "g.47444985T>C" "62/208 cases" "{PMID:Tarpey 2009:19377476}" "" "F124F" "recurrent, found 62 times" "Germline" "" "" "0" "" "" "g.47585586T>C" "" "likely benign" "" "0000393222" "1" "30" "X" "47445940" "47445940" "subst" "0.0708749" "00124" "SYN1_000049" "g.47445940C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "I158I" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.47586541C>T" "" "likely benign" "" "0000393223" "1" "50" "X" "47446041" "47446041" "subst" "0.00236027" "00124" "SYN1_000050" "g.47446041G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.47586642G>A" "" "VUS" "" "0000576132" "0" "50" "X" "47422410" "47422410" "subst" "0" "01943" "SYN1_000051" "g.47422410C>T" "" "" "" "ARAF(NM_001256196.1):c.44C>T (p.S15F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47563011C>T" "" "VUS" "" "0000576133" "0" "30" "X" "47424529" "47424529" "subst" "0.000102207" "01804" "SYN1_000052" "g.47424529A>G" "" "" "" "ARAF(NM_001256196.1):c.449A>G (p.(Asn150Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47565130A>G" "" "likely benign" "" "0000576135" "0" "50" "X" "47426104" "47426104" "subst" "1.19551E-5" "01943" "SYN1_000054" "g.47426104G>C" "" "" "" "ARAF(NM_001256196.1):c.633G>C (p.Q211H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47566705G>C" "" "VUS" "" "0000576136" "0" "30" "X" "47426318" "47426318" "subst" "0.00147265" "01804" "SYN1_000055" "g.47426318C>A" "" "" "" "ARAF(NM_001256196.1):c.736+8C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47566919C>A" "" "likely benign" "" "0000576137" "0" "30" "X" "47426442" "47426442" "subst" "3.93513E-5" "01804" "SYN1_000056" "g.47426442G>T" "" "" "" "ARAF(NM_001256196.1):c.794G>T (p.(Ser265Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47567043G>T" "" "likely benign" "" "0000576138" "0" "50" "X" "47426773" "47426773" "subst" "5.78419E-6" "01804" "SYN1_000057" "g.47426773G>A" "" "" "" "ARAF(NM_001256196.1):c.1027G>A (p.(Val343Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47567374G>A" "" "VUS" "" "0000576139" "0" "30" "X" "47433445" "47433445" "subst" "0" "02325" "SYN1_000058" "g.47433445T>G" "" "" "" "SYN1(NM_006950.3):c.1938A>C (p.P646=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47574046T>G" "" "likely benign" "" "0000576140" "0" "50" "X" "47433723" "47433723" "subst" "0" "02325" "SYN1_000059" "g.47433723G>A" "" "" "" "SYN1(NM_006950.3):c.1660C>T (p.P554S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47574324G>A" "" "VUS" "" "0000576141" "0" "30" "X" "47433768" "47433768" "subst" "0.000533618" "01943" "SYN1_000026" "g.47433768C>T" "" "" "" "SYN1(NM_006950.3):c.1615G>A (p.G539S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47574369C>T" "" "likely benign" "" "0000576143" "0" "30" "X" "47435641" "47435647" "del" "0" "01804" "SYN1_000061" "g.47435641_47435647del" "" "" "" "SYN1(NM_006950.3):c.1056-14_1056-8del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47576242_47576248del" "" "likely benign" "" "0000576144" "0" "30" "X" "47435933" "47435933" "subst" "3.35572E-5" "02326" "SYN1_000062" "g.47435933C>T" "" "" "" "SYN1(NM_006950.3):c.944G>A (p.R315H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47576534C>T" "" "likely benign" "" "0000576145" "0" "30" "X" "47444408" "47444408" "subst" "0.000312275" "01943" "SYN1_000063" "g.47444408G>T" "" "" "" "TIMP1(NM_003254.2):c.195G>T (p.M65I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47585009G>T" "" "likely benign" "" "0000576146" "0" "30" "X" "47445978" "47445978" "subst" "0.00057795" "01804" "SYN1_000064" "g.47445978C>T" "" "" "" "TIMP1(NM_003254.2):c.512C>T (p.(Thr171Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47586579C>T" "" "likely benign" "" "0000576147" "0" "30" "X" "47446041" "47446041" "subst" "0.00236027" "01804" "SYN1_000050" "g.47446041G>A" "" "" "" "TIMP1(NM_003254.2):c.575G>A (p.(Arg192Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47586642G>A" "" "likely benign" "" "0000576148" "0" "30" "X" "47446077" "47446077" "subst" "0" "01943" "SYN1_000065" "g.47446077C>T" "" "" "" "TIMP1(NM_003254.2):c.611C>T (p.S204F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47586678C>T" "" "likely benign" "" "0000576152" "0" "50" "X" "47464726" "47464726" "subst" "3.41103E-5" "02325" "SYN1_000042" "g.47464726G>A" "" "" "" "SYN1(NM_006950.3):c.580C>T (p.(Arg194Cys), p.R194C), SYN1(NM_133499.2):c.580C>T (p.R194C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47605327G>A" "" "VUS" "" "0000576153" "0" "30" "X" "47464726" "47464726" "subst" "3.41103E-5" "02326" "SYN1_000042" "g.47464726G>A" "" "" "" "SYN1(NM_006950.3):c.580C>T (p.(Arg194Cys), p.R194C), SYN1(NM_133499.2):c.580C>T (p.R194C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47605327G>A" "" "likely benign" "" "0000576154" "0" "30" "X" "47478764" "47478764" "subst" "0" "01804" "SYN1_000068" "g.47478764G>A" "" "" "" "SYN1(NM_006950.3):c.364C>T (p.P122S, p.(Pro122Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47619365G>A" "" "likely benign" "" "0000576155" "0" "30" "X" "47478939" "47478939" "subst" "9.14091E-5" "01943" "SYN1_000069" "g.47478939C>A" "" "" "" "SYN1(NM_006950.3):c.189G>T (p.P63=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47619540C>A" "" "likely benign" "" "0000619594" "0" "30" "X" "47434535" "47434535" "subst" "0.00117536" "02326" "SYN1_000070" "g.47434535G>A" "" "" "" "SYN1(NM_006950.3):c.1297C>T (p.H433Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47575136G>A" "" "likely benign" "" "0000619596" "0" "30" "X" "47435719" "47435719" "subst" "0.000131213" "02326" "SYN1_000071" "g.47435719C>T" "" "" "" "SYN1(NM_006950.3):c.1055+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47576320C>T" "" "likely benign" "" "0000619597" "0" "50" "X" "47436881" "47436881" "subst" "0" "02327" "SYN1_000072" "g.47436881G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47577482G>A" "" "VUS" "" "0000619598" "0" "90" "X" "47466538" "47466538" "subst" "0" "02327" "SYN1_000073" "g.47466538A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47607139A>G" "" "pathogenic" "" "0000619599" "0" "30" "X" "47478989" "47478989" "subst" "0" "01943" "SYN1_000074" "g.47478989C>T" "" "" "" "SYN1(NM_006950.3):c.139G>A (p.G47R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47619590C>T" "" "likely benign" "" "0000619600" "0" "10" "X" "47483800" "47483800" "subst" "0.224261" "02327" "CFP_000002" "g.47483800G>A" "" "" "" "CFP(NM_002621.2):c.1284C>T (p.N428=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47624401G>A" "" "benign" "" "0000624629" "0" "50" "X" "47483756" "47483756" "subst" "2.23729E-5" "01943" "SYN1_000075" "g.47483756T>C" "" "" "" "CFP(NM_002621.2):c.1328A>G (p.Q443R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47624357T>C" "" "VUS" "" "0000652925" "1" "50" "X" "47433684" "47433684" "subst" "0.00120518" "03575" "SYN1_000024" "g.47433684T>C" "9/2764 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 9 heterozygous, no homozygous; {DB:CLININrs200533370}" "Germline" "" "rs200533370" "0" "" "" "g.47574285T>C" "" "VUS" "" "0000659325" "0" "30" "X" "47426380" "47426380" "subst" "0.00867395" "01804" "SYN1_000076" "g.47426380T>C" "" "" "" "ARAF(NM_001256196.1):c.737-5T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47566981T>C" "" "likely benign" "" "0000659326" "0" "30" "X" "47426444" "47426444" "subst" "0" "01943" "SYN1_000077" "g.47426444G>A" "" "" "" "ARAF(NM_001256196.1):c.796G>A (p.V266M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47567045G>A" "" "likely benign" "" "0000659327" "0" "30" "X" "47433622" "47433622" "subst" "0" "01943" "SYN1_000078" "g.47433622G>A" "" "" "" "SYN1(NM_006950.3):c.1761C>T (p.R587=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47574223G>A" "" "likely benign" "" "0000659328" "0" "30" "X" "47433684" "47433684" "subst" "0.00120518" "01804" "SYN1_000024" "g.47433684T>C" "" "" "" "SYN1(NM_006950.3):c.1699A>G (p.T567A, p.(Thr567Ala)), SYN1(NM_133499.2):c.1699A>G (p.T567A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47574285T>C" "" "likely benign" "" "0000659329" "0" "30" "X" "47478976" "47478976" "subst" "0.00263009" "01804" "SYN1_000079" "g.47478976G>C" "" "" "" "SYN1(NM_006950.3):c.152C>G (p.(Ala51Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47619577G>C" "" "likely benign" "" "0000682460" "0" "30" "X" "47426095" "47426095" "subst" "0.000195943" "01943" "SYN1_000080" "g.47426095C>G" "" "" "" "ARAF(NM_001256196.1):c.624C>G (p.A208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682461" "0" "50" "X" "47433913" "47433915" "del" "0" "01943" "SYN1_000081" "g.47433913_47433915del" "" "" "" "SYN1(NM_006950.3):c.1473_1475delGCA (p.Q491del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000682462" "0" "30" "X" "47435625" "47435625" "subst" "0.000206677" "01943" "SYN1_000082" "g.47435625G>A" "" "" "" "SYN1(NM_006950.3):c.1063C>T (p.L355=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682463" "0" "30" "X" "47478939" "47478939" "subst" "9.14091E-5" "02326" "SYN1_000069" "g.47478939C>A" "" "" "" "SYN1(NM_006950.3):c.189G>T (p.P63=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693608" "0" "30" "X" "47433635" "47433635" "subst" "2.17099E-5" "01943" "SYN1_000083" "g.47433635C>G" "" "" "" "SYN1(NM_006950.3):c.1748G>C (p.G583A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693609" "0" "30" "X" "47445950" "47445950" "subst" "7.87783E-5" "01943" "SYN1_000084" "g.47445950C>G" "" "" "" "TIMP1(NM_003254.2):c.484C>G (p.L162V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693610" "0" "30" "X" "47478764" "47478764" "subst" "0" "01943" "SYN1_000068" "g.47478764G>A" "" "" "" "SYN1(NM_006950.3):c.364C>T (p.P122S, p.(Pro122Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728942" "0" "50" "X" "47464726" "47464726" "subst" "3.41103E-5" "02329" "SYN1_000042" "g.47464726G>A" "" "" "" "SYN1(NM_006950.3):c.580C>T (p.(Arg194Cys), p.R194C), SYN1(NM_133499.2):c.580C>T (p.R194C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728943" "0" "50" "X" "47478776" "47478776" "subst" "0" "01943" "SYN1_000085" "g.47478776C>T" "" "" "" "SYN1(NM_006950.3):c.352G>A (p.V118I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810428" "0" "50" "X" "47424531" "47424531" "subst" "3.41227E-5" "01943" "SYN1_000086" "g.47424531C>T" "" "" "" "ARAF(NM_001256196.1):c.451C>T (p.R151C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810429" "0" "30" "X" "47433682" "47433682" "subst" "0.000224947" "02326" "SYN1_000087" "g.47433682T>A" "" "" "" "SYN1(NM_006950.3):c.1701A>T (p.T567=), SYN1(NM_133499.2):c.1701A>T (p.T567=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810430" "0" "50" "X" "47434613" "47434613" "subst" "0" "01943" "SYN1_000088" "g.47434613C>T" "" "" "" "SYN1(NM_006950.3):c.1219G>A (p.V407I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810431" "0" "30" "X" "47435578" "47435578" "subst" "0.000329764" "01943" "SYN1_000089" "g.47435578G>A" "" "" "" "SYN1(NM_006950.3):c.1110C>T (p.C370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856636" "0" "30" "X" "47429011" "47429011" "subst" "3.50803E-5" "01943" "SYN1_000091" "g.47429011C>T" "" "" "" "ARAF(NM_001256196.1):c.1383C>T (p.S461=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856637" "0" "50" "X" "47434134" "47434134" "subst" "0" "02325" "SYN1_000092" "g.47434134G>C" "" "" "" "SYN1(NM_133499.2):c.1346C>G (p.S449C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856638" "0" "30" "X" "47466530" "47466530" "subst" "4.47858E-5" "02326" "SYN1_000094" "g.47466530C>T" "" "" "" "SYN1(NM_133499.2):c.435+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867393" "0" "50" "X" "47424399" "47424401" "del" "0" "01943" "SYN1_000090" "g.47424399_47424401del" "" "" "" "ARAF(NM_001256196.1):c.319_321delTTC (p.F107del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867394" "0" "50" "X" "47444706" "47444706" "subst" "3.94058E-5" "01943" "SYN1_000093" "g.47444706C>T" "" "" "" "TIMP1(NM_003254.2):c.304C>T (p.R102C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000896249" "0" "30" "X" "47424734" "47424734" "subst" "0.000803375" "02325" "ARAF_000006" "g.47424734C>A" "" "" "" "ARAF(NM_001654.5):c.542C>A (p.T181N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896250" "0" "50" "X" "47433597" "47433597" "subst" "0" "02326" "SYN1_000095" "g.47433597C>A" "" "" "" "SYN1(NM_133499.2):c.1786G>T (p.G596C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000896251" "0" "30" "X" "47433682" "47433682" "subst" "0.000224947" "01943" "SYN1_000087" "g.47433682T>A" "" "" "" "SYN1(NM_006950.3):c.1701A>T (p.T567=), SYN1(NM_133499.2):c.1701A>T (p.T567=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896252" "0" "30" "X" "47433684" "47433684" "subst" "0.00120518" "02325" "SYN1_000024" "g.47433684T>C" "" "" "" "SYN1(NM_006950.3):c.1699A>G (p.T567A, p.(Thr567Ala)), SYN1(NM_133499.2):c.1699A>G (p.T567A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915724" "0" "50" "X" "47479039" "47479039" "subst" "0" "02325" "SYN1_000096" "g.47479039G>C" "" "" "" "SYN1(NM_133499.2):c.89C>G (p.P30R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984703" "0" "70" "X" "47433732" "47433735" "dup" "0" "01804" "SYN1_000097" "g.47433732_47433735dup" "" "" "" "SYN1(NM_006950.3):c.1648_1651dup (p.(Ser551CysfsTer134))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001006769" "0" "30" "X" "47422376" "47422376" "subst" "0" "01804" "SYN1_000098" "g.47422376C>T" "" "" "" "ARAF(NM_001654.4):c.10C>T (p.(Pro4Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006770" "0" "30" "X" "47434693" "47434693" "subst" "0" "02326" "SYN1_000099" "g.47434693C>T" "" "" "" "SYN1(NM_133499.2):c.1159-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027504" "0" "10" "X" "47426757" "47426757" "subst" "0.00404884" "02330" "SYN1_000100" "g.47426757C>T" "" "" "" "ARAF(NM_001256196.2):c.1011C>T (p.A337=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001044353" "0" "30" "X" "47426051" "47426051" "subst" "4.22345E-5" "01804" "SYN1_000101" "g.47426051C>T" "" "" "" "ARAF(NM_001654.5):c.571C>T (p.(His191Tyr))" "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 SYN1 ## Count = 131 "{{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}}" "0000001897" "00000346" "50" "774" "85" "774" "85" "c.774+85del" "r.(=)" "p.(=)" "" "0000002919" "00000346" "50" "774" "86" "774" "86" "c.774+86del" "r.(=)" "p.(=)" "" "0000006701" "00000346" "50" "1983" "-349" "1983" "-349" "c.1983-349T>C" "r.(=)" "p.(=)" "" "0000006702" "00000346" "50" "775" "-6211" "775" "-6211" "c.775-6211C>T" "r.(=)" "p.(=)" "" "0000006703" "00000346" "50" "775" "-7979" "775" "-7979" "c.775-7979C>G" "r.(=)" "p.(=)" "" "0000006704" "00000346" "50" "775" "-8085" "775" "-8085" "c.775-8085A>G" "r.(=)" "p.(=)" "" "0000006705" "00000346" "50" "775" "-8386" "775" "-8386" "c.775-8386T>C" "r.(=)" "p.(=)" "" "0000006706" "00000346" "50" "775" "-9619" "775" "-9619" "c.775-9619A>C" "r.(=)" "p.(=)" "" "0000006707" "00000346" "50" "775" "-9753" "775" "-9753" "c.775-9753C>T" "r.(=)" "p.(=)" "" "0000006708" "00000346" "50" "510" "0" "510" "0" "c.510T>C" "r.(?)" "p.(=)" "" "0000006709" "00000346" "50" "378" "-281" "378" "-281" "c.378-281A>G" "r.(=)" "p.(=)" "" "0000006710" "00000346" "50" "378" "-321" "378" "-321" "c.378-321G>A" "r.(=)" "p.(=)" "" "0000008766" "00000346" "50" "775" "-6211" "775" "-6211" "c.775-6211C>T" "r.(=)" "p.(=)" "" "0000008767" "00000346" "50" "775" "-7979" "775" "-7979" "c.775-7979C>G" "r.(=)" "p.(=)" "" "0000008768" "00000346" "50" "775" "-8085" "775" "-8085" "c.775-8085A>G" "r.(=)" "p.(=)" "" "0000008769" "00000346" "50" "775" "-8386" "775" "-8386" "c.775-8386T>C" "r.(=)" "p.(=)" "" "0000008770" "00000346" "50" "775" "-9619" "775" "-9619" "c.775-9619A>C" "r.(=)" "p.(=)" "" "0000008771" "00000346" "50" "774" "86" "774" "86" "c.774+86del" "r.(=)" "p.(=)" "" "0000008772" "00000346" "50" "510" "0" "510" "0" "c.510T>C" "r.(?)" "p.(=)" "" "0000008773" "00000346" "50" "378" "-281" "378" "-281" "c.378-281A>G" "r.(=)" "p.(=)" "" "0000014678" "00000346" "50" "378" "-321" "378" "-321" "c.378-321G>A" "r.(=)" "p.(=)" "" "0000173003" "00000346" "30" "1107" "0" "1107" "0" "c.1107C>T" "r.(?)" "p.(=)" "9" "0000173004" "00000346" "30" "1422" "0" "1422" "0" "c.1422C>T" "r.(?)" "p.(=)" "11" "0000173005" "00000346" "30" "426" "0" "426" "0" "c.426A>G" "r.(?)" "p.(=)" "2" "0000173006" "00000346" "30" "510" "0" "510" "0" "c.510T>C" "r.(?)" "p.(=)" "3" "0000173007" "00000346" "70" "236" "0" "236" "0" "c.236C>G" "r.(?)" "p.(Ser79Trp)" "1" "0000236394" "00000346" "70" "2" "0" "2" "0" "c.2del" "r.(?)" "p.0?" "" "0000248737" "00000346" "10" "510" "0" "510" "0" "c.510T>C" "r.(?)" "p.(Asn170=)" "" "0000249414" "00000346" "30" "1629" "0" "1629" "0" "c.1629T>C" "r.(?)" "p.(Pro543=)" "" "0000250796" "00000346" "30" "450" "0" "450" "0" "c.450T>G" "r.(?)" "p.(Asp150Glu)" "" "0000252358" "00000346" "30" "684" "60" "684" "60" "c.684+60T>C" "r.(=)" "p.(=)" "" "0000252359" "00000346" "30" "-81" "0" "-81" "0" "c.-81T>C" "r.(?)" "p.(=)" "" "0000254015" "00000346" "30" "450" "0" "450" "0" "c.450T>G" "r.(?)" "p.(Asp150Glu)" "" "0000254380" "00000346" "30" "3568" "0" "3568" "0" "c.*1450T>G" "r.(=)" "p.(=)" "" "0000262824" "00000346" "30" "10188" "0" "10188" "0" "c.*8070G>A" "r.(=)" "p.(=)" "" "0000262825" "00000346" "30" "7919" "0" "7919" "0" "c.*5801A>C" "r.(=)" "p.(=)" "" "0000266697" "00000346" "10" "-4673" "0" "-4673" "0" "c.-4673C>T" "r.(?)" "p.(=)" "" "0000311622" "00000346" "30" "1996" "0" "1996" "0" "c.1996C>T" "r.(?)" "p.(Leu666=)" "" "0000314232" "00000346" "30" "-28" "0" "-28" "0" "c.-28C>G" "r.(?)" "p.(=)" "" "0000314233" "00000346" "30" "2229" "0" "2229" "0" "c.*111C>T" "r.(=)" "p.(=)" "" "0000314234" "00000346" "10" "2166" "0" "2166" "0" "c.*48C>A" "r.(=)" "p.(=)" "" "0000314235" "00000346" "30" "1107" "0" "1107" "0" "c.1107C>T" "r.(?)" "p.(Ile369=)" "" "0000314236" "00000346" "90" "1264" "0" "1264" "0" "c.1264C>T" "r.(?)" "p.(Arg422Ter)" "" "0000314237" "00000346" "30" "1305" "114" "1305" "114" "c.1305+114C>T" "r.(=)" "p.(=)" "" "0000314238" "00000346" "30" "1615" "0" "1615" "0" "c.1615G>A" "r.(?)" "p.(Gly539Ser)" "" "0000314239" "00000346" "30" "1699" "0" "1699" "0" "c.1699A>G" "r.(?)" "p.(Thr567Ala)" "" "0000314240" "00000346" "30" "426" "0" "426" "0" "c.426A>G" "r.(?)" "p.(Lys142=)" "" "0000314241" "00000346" "30" "472" "0" "472" "0" "c.472A>C" "r.(?)" "p.(Asn158His)" "" "0000314242" "00000346" "30" "599" "0" "599" "0" "c.599G>A" "r.(?)" "p.(Ser200Asn)" "" "0000314243" "00000346" "30" "775" "-8023" "775" "-8023" "c.775-8023C>T" "r.(=)" "p.(=)" "" "0000314244" "00000346" "30" "775" "-8121" "775" "-8121" "c.775-8121G>C" "r.(=)" "p.(=)" "" "0000314245" "00000346" "30" "775" "-8397" "775" "-8397" "c.775-8397G>A" "r.(=)" "p.(=)" "" "0000314246" "00000346" "30" "838" "-134" "838" "-134" "c.838-134G>A" "r.(=)" "p.(=)" "" "0000314247" "00000346" "30" "980" "14" "980" "14" "c.980+14C>T" "r.(=)" "p.(=)" "" "0000315948" "00000346" "30" "1107" "0" "1107" "0" "c.1107C>T" "r.(?)" "p.(Ile369=)" "" "0000315949" "00000346" "10" "1699" "0" "1699" "0" "c.1699A>G" "r.(?)" "p.(Thr567Ala)" "" "0000315950" "00000346" "30" "426" "0" "426" "0" "c.426A>G" "r.(?)" "p.(Lys142=)" "" "0000315951" "00000346" "30" "472" "0" "472" "0" "c.472A>C" "r.(?)" "p.(Asn158His)" "" "0000315952" "00000346" "50" "581" "0" "581" "0" "c.581G>A" "r.(?)" "p.(Arg194His)" "" "0000316618" "00000346" "30" "775" "-7461" "775" "-7461" "c.775-7461G>A" "r.(=)" "p.(=)" "" "0000316619" "00000346" "30" "775" "-9120" "775" "-9120" "c.775-9120C>T" "r.(=)" "p.(=)" "" "0000333921" "00000346" "50" "7616" "0" "7616" "0" "c.*5498A>G" "r.(=)" "p.(=)" "" "0000333923" "00000346" "50" "775" "-7461" "775" "-7461" "c.775-7461G>A" "r.(=)" "p.(=)" "" "0000333925" "00000346" "50" "775" "-9140" "775" "-9140" "c.775-9140G>A" "r.(=)" "p.(=)" "" "0000333926" "00000346" "50" "580" "0" "580" "0" "c.580C>T" "r.(?)" "p.(Arg194Cys)" "" "0000342172" "00000346" "50" "580" "0" "580" "0" "c.580C>T" "r.(?)" "p.(Arg194Cys)" "" "0000348469" "00000346" "30" "1438" "0" "1438" "0" "c.1438C>T" "r.(?)" "p.(Pro480Ser)" "" "0000393220" "00000346" "00" "775" "-7763" "775" "-7763" "c.775-7763G>A" "r.(=)" "p.(=)" "" "0000393221" "00000346" "00" "775" "-8085" "775" "-8085" "c.775-8085A>G" "r.(=)" "p.(=)" "" "0000393222" "00000346" "00" "775" "-9040" "775" "-9040" "c.775-9040G>A" "r.(=)" "p.(=)" "" "0000393223" "00000346" "00" "775" "-9141" "775" "-9141" "c.775-9141C>T" "r.(=)" "p.(=)" "" "0000576132" "00000346" "50" "11971" "0" "11971" "0" "c.*9853G>A" "r.(=)" "p.(=)" "" "0000576133" "00000346" "30" "9852" "0" "9852" "0" "c.*7734T>C" "r.(=)" "p.(=)" "" "0000576135" "00000346" "50" "8277" "0" "8277" "0" "c.*6159C>G" "r.(=)" "p.(=)" "" "0000576136" "00000346" "30" "8063" "0" "8063" "0" "c.*5945G>T" "r.(=)" "p.(=)" "" "0000576137" "00000346" "30" "7939" "0" "7939" "0" "c.*5821C>A" "r.(=)" "p.(=)" "" "0000576138" "00000346" "50" "7608" "0" "7608" "0" "c.*5490C>T" "r.(=)" "p.(=)" "" "0000576139" "00000346" "30" "1938" "0" "1938" "0" "c.1938A>C" "r.(?)" "p.(Pro646=)" "" "0000576140" "00000346" "50" "1660" "0" "1660" "0" "c.1660C>T" "r.(?)" "p.(Pro554Ser)" "" "0000576141" "00000346" "30" "1615" "0" "1615" "0" "c.1615G>A" "r.(?)" "p.(Gly539Ser)" "" "0000576143" "00000346" "30" "1056" "-14" "1056" "-8" "c.1056-14_1056-8del" "r.(=)" "p.(=)" "" "0000576144" "00000346" "30" "944" "0" "944" "0" "c.944G>A" "r.(?)" "p.(Arg315His)" "" "0000576145" "00000346" "30" "775" "-7508" "775" "-7508" "c.775-7508C>A" "r.(=)" "p.(=)" "" "0000576146" "00000346" "30" "775" "-9078" "775" "-9078" "c.775-9078G>A" "r.(=)" "p.(=)" "" "0000576147" "00000346" "30" "775" "-9141" "775" "-9141" "c.775-9141C>T" "r.(=)" "p.(=)" "" "0000576148" "00000346" "30" "775" "-9177" "775" "-9177" "c.775-9177G>A" "r.(=)" "p.(=)" "" "0000576152" "00000346" "50" "580" "0" "580" "0" "c.580C>T" "r.(?)" "p.(Arg194Cys)" "" "0000576153" "00000346" "30" "580" "0" "580" "0" "c.580C>T" "r.(?)" "p.(Arg194Cys)" "" "0000576154" "00000346" "30" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Pro122Ser)" "" "0000576155" "00000346" "30" "189" "0" "189" "0" "c.189G>T" "r.(?)" "p.(Pro63=)" "" "0000619594" "00000346" "30" "1297" "0" "1297" "0" "c.1297C>T" "r.(?)" "p.(His433Tyr)" "" "0000619596" "00000346" "30" "1055" "12" "1055" "12" "c.1055+12G>A" "r.(=)" "p.(=)" "" "0000619597" "00000346" "50" "794" "0" "794" "0" "c.794C>T" "r.(?)" "p.(Pro265Leu)" "" "0000619598" "00000346" "90" "435" "2" "435" "2" "c.435+2T>C" "r.spl?" "p.?" "" "0000619599" "00000346" "30" "139" "0" "139" "0" "c.139G>A" "r.(?)" "p.(Gly47Arg)" "" "0000619600" "00000346" "10" "-4673" "0" "-4673" "0" "c.-4673C>T" "r.(?)" "p.(=)" "" "0000624629" "00000346" "50" "-4629" "0" "-4629" "0" "c.-4629A>G" "r.(?)" "p.(=)" "" "0000652925" "00000346" "50" "1699" "0" "1699" "0" "c.1699A>G" "r.(?)" "p.(Thr567Ala)" "" "0000659325" "00000346" "30" "8001" "0" "8001" "0" "c.*5883A>G" "r.(=)" "p.(=)" "" "0000659326" "00000346" "30" "7937" "0" "7937" "0" "c.*5819C>T" "r.(=)" "p.(=)" "" "0000659327" "00000346" "30" "1761" "0" "1761" "0" "c.1761C>T" "r.(?)" "p.(Arg587=)" "" "0000659328" "00000346" "30" "1699" "0" "1699" "0" "c.1699A>G" "r.(?)" "p.(Thr567Ala)" "" "0000659329" "00000346" "30" "152" "0" "152" "0" "c.152C>G" "r.(?)" "p.(Ala51Gly)" "" "0000682460" "00000346" "30" "8286" "0" "8286" "0" "c.*6168G>C" "r.(=)" "p.(=)" "" "0000682461" "00000346" "50" "1473" "0" "1475" "0" "c.1473_1475del" "r.(?)" "p.(Gln491del)" "" "0000682462" "00000346" "30" "1063" "0" "1063" "0" "c.1063C>T" "r.(?)" "p.(Leu355=)" "" "0000682463" "00000346" "30" "189" "0" "189" "0" "c.189G>T" "r.(?)" "p.(Pro63=)" "" "0000693608" "00000346" "30" "1748" "0" "1748" "0" "c.1748G>C" "r.(?)" "p.(Gly583Ala)" "" "0000693609" "00000346" "30" "775" "-9050" "775" "-9050" "c.775-9050G>C" "r.(=)" "p.(=)" "" "0000693610" "00000346" "30" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Pro122Ser)" "" "0000728942" "00000346" "50" "580" "0" "580" "0" "c.580C>T" "r.(?)" "p.(Arg194Cys)" "" "0000728943" "00000346" "50" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.(Val118Ile)" "" "0000810428" "00000346" "50" "9850" "0" "9850" "0" "c.*7732G>A" "r.(=)" "p.(=)" "" "0000810429" "00000346" "30" "1701" "0" "1701" "0" "c.1701A>T" "r.(?)" "p.(Thr567=)" "" "0000810430" "00000346" "50" "1219" "0" "1219" "0" "c.1219G>A" "r.(?)" "p.(Val407Ile)" "" "0000810431" "00000346" "30" "1110" "0" "1110" "0" "c.1110C>T" "r.(?)" "p.(Cys370=)" "" "0000856636" "00000346" "30" "5370" "0" "5370" "0" "c.*3252G>A" "r.(=)" "p.(=)" "" "0000856637" "00000346" "50" "1346" "0" "1346" "0" "c.1346C>G" "r.(?)" "p.(Ser449Cys)" "" "0000856638" "00000346" "30" "435" "10" "435" "10" "c.435+10G>A" "r.(=)" "p.(=)" "" "0000867393" "00000346" "50" "9984" "0" "9986" "0" "c.*7866_*7868del" "r.(=)" "p.(=)" "" "0000867394" "00000346" "50" "775" "-7806" "775" "-7806" "c.775-7806G>A" "r.(=)" "p.(=)" "" "0000896249" "00000346" "30" "9647" "0" "9647" "0" "c.*7529G>T" "r.(=)" "p.(=)" "" "0000896250" "00000346" "50" "1786" "0" "1786" "0" "c.1786G>T" "r.(?)" "p.(Gly596Cys)" "" "0000896251" "00000346" "30" "1701" "0" "1701" "0" "c.1701A>T" "r.(?)" "p.(Thr567=)" "" "0000896252" "00000346" "30" "1699" "0" "1699" "0" "c.1699A>G" "r.(?)" "p.(Thr567Ala)" "" "0000915724" "00000346" "50" "89" "0" "89" "0" "c.89C>G" "r.(?)" "p.(Pro30Arg)" "" "0000984703" "00000346" "70" "1648" "0" "1651" "0" "c.1648_1651dup" "r.(?)" "p.(Ser551Cysfs*134)" "" "0001006769" "00000346" "30" "12005" "0" "12005" "0" "c.*9887G>A" "r.(=)" "p.(=)" "" "0001006770" "00000346" "30" "1159" "-20" "1159" "-20" "c.1159-20G>A" "r.(=)" "p.(=)" "" "0001027504" "00000346" "10" "7624" "0" "7624" "0" "c.*5506G>A" "r.(=)" "p.(=)" "" "0001044353" "00000346" "30" "8330" "0" "8330" "0" "c.*6212G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 32 "{{screeningid}}" "{{variantid}}" "0000000209" "0000001897" "0000000209" "0000002919" "0000000209" "0000006701" "0000000209" "0000006702" "0000000209" "0000006703" "0000000209" "0000006704" "0000000209" "0000006705" "0000000209" "0000006706" "0000000209" "0000006707" "0000000209" "0000006708" "0000000209" "0000006709" "0000000209" "0000006710" "0000000210" "0000008766" "0000000210" "0000008767" "0000000210" "0000008768" "0000000210" "0000008769" "0000000210" "0000008770" "0000000210" "0000008771" "0000000210" "0000008772" "0000000210" "0000008773" "0000000210" "0000014678" "0000107233" "0000173003" "0000107234" "0000173004" "0000107235" "0000173005" "0000107236" "0000173006" "0000107237" "0000173007" "0000145295" "0000236394" "0000173363" "0000393220" "0000173364" "0000393221" "0000173365" "0000393222" "0000173366" "0000393223" "0000296236" "0000652925"