### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SNTA1) # 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}}" "SNTA1" "syntrophin, alpha 1" "20" "q11.2" "unknown" "LRG_332" "UD_132118794043" "" "http://www.LOVD.nl/SNTA1" "" "1" "11167" "6640" "601017" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/SNTA1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-06-11 18:43:55" "00000" "2025-11-01 13:22:20" ## 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}}" "00019959" "SNTA1" "syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component)" "001" "NM_003098.2" "" "NP_003089.1" "" "" "" "-272" "2068" "1518" "32031698" "31995763" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00422" "DPDD" "dihydropyrimidine dehydrogenase deficiency (DPDD)" "AR" "274270" "" "" "" "00006" "2014-06-17 21:43:51" "00006" "2021-12-10 21:51:32" "03219" "LQT12" "QT syndrome, long, type 12 (LQT-12)" "AD" "612955" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43" "05166" "SUD" "death, sudden, unexplained (SUD)" "" "" "" "" "" "00006" "2016-05-19 16:34:23" "00006" "2018-09-11 12:14:13" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SNTA1" "03219" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00064738" "" "" "" "1" "" "01601" "" "" "M" "" "Denmark" "48y" "0" "" "" "" "" "00128397" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "99" "00128443" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "197" "00128485" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "280" "00228665" "" "" "00155716" "1" "" "00006" "{PMID:van Kuilenburg 2018:2969193}, {DOI:van Kuilenburg 2018:10.1002/humu.23538}" "" "M" "" "Netherlands" "" "0" "" "" "" "son" "00292911" "" "" "" "67" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292912" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292913" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304851" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00453267" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam136Pat156" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00064738" "05166" "00128397" "00198" "00128443" "00198" "00128485" "00198" "00228665" "00422" "00292911" "00198" "00292912" "00198" "00292913" "00198" "00304851" "00198" "00453267" "04172" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00422, 03219, 04172, 05166 ## Count = 6 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/enzyme_act}}" "{{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}}" "0000051265" "05166" "00064738" "01601" "Unknown" "" "sudden unexplained death" "" "" "" "" "" "" "" "" "" "" "" "" "0000100613" "00198" "00128397" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100662" "00198" "00128443" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100708" "00198" "00128485" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000172603" "00422" "00228665" "00006" "Familial, autosomal recessive" "18y" "see paper; ..., born with apparent cortical blindness, subsequently exhibited severe\r\ndevelopmental delay; 2y-severe spasticity, hyperreflexia felt secondary to intrauterine stroke; multiple brain MRIs delay in myelination; 18y-spastic paraparesis, mild intellectual disability" "" "" "" "" "" "" "" "" "" "DPDD" "" "" "0000341913" "04172" "00453267" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000064877" "00064738" "1" "01601" "01601" "2016-05-10 12:57:07" "" "" "SEQ-NG-I" "DNA" "" "" "0000129235" "00128397" "1" "02244" "02244" "2017-09-15 15:36:15" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129281" "00128443" "1" "02244" "02244" "2017-09-15 17:23:19" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129323" "00128485" "1" "02244" "02244" "2017-09-15 18:58:21" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000229755" "00228665" "1" "00006" "00006" "2019-03-23 16:29:58" "00006" "2019-03-23 16:40:51" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000294079" "00292911" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294080" "00292912" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294081" "00292913" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305980" "00304851" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000454878" "00453267" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000229755" "DPYD" ## 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 = 108 "{{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}}" "0000096530" "0" "50" "20" "32000520" "32000520" "subst" "0.00177468" "01601" "SNTA1_000007" "g.32000520G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33412714G>C" "" "VUS" "" "0000218376" "0" "50" "20" "32031206" "32031206" "subst" "0.00227089" "02244" "SNTA1_000009" "g.32031206G>A" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.33443400G>A" "" "VUS" "" "0000218435" "0" "50" "20" "32031206" "32031206" "subst" "0.00227089" "02244" "SNTA1_000009" "g.32031206G>A" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.33443400G>A" "" "VUS" "" "0000218495" "0" "50" "20" "32005660" "32005660" "subst" "0.000203158" "02244" "SNTA1_000008" "g.32005660G>A" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.33417854G>A" "" "VUS" "" "0000247664" "0" "10" "20" "32000483" "32000483" "subst" "0.00486609" "02330" "SNTA1_000015" "g.32000483A>G" "" "" "" "SNTA1(NM_003098.3):c.807T>C (p.N269=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33412677A>G" "" "benign" "" "0000247667" "0" "10" "20" "31996410" "31996410" "subst" "0.000511646" "02330" "SNTA1_000010" "g.31996410A>G" "" "" "" "SNTA1(NM_003098.3):c.1426-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33408604A>G" "" "benign" "" "0000296082" "0" "50" "20" "32031299" "32031299" "subst" "0.000139101" "02330" "SNTA1_000026" "g.32031299C>T" "" "" "" "SNTA1(NM_003098.3):c.128G>A (p.S43N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33443493C>T" "" "VUS" "" "0000296083" "0" "10" "20" "31996582" "31996582" "subst" "0.00274553" "02330" "SNTA1_000011" "g.31996582G>A" "" "" "" "SNTA1(NM_003098.3):c.1350C>T (p.F450=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33408776G>A" "" "benign" "" "0000296084" "0" "30" "20" "32031206" "32031206" "subst" "0.00227089" "02330" "SNTA1_000009" "g.32031206G>A" "" "" "" "SNTA1(NM_003098.2):c.221C>T (p.P74L), SNTA1(NM_003098.3):c.221C>T (p.P74L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33443400G>A" "" "likely benign" "" "0000296085" "0" "10" "20" "32026852" "32026852" "subst" "0" "02330" "SNTA1_000025" "g.32026852G>C" "" "" "" "SNTA1(NM_003098.3):c.311-20C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33439046G>C" "" "benign" "" "0000296086" "0" "30" "20" "32026831" "32026831" "subst" "1.2184E-5" "02330" "SNTA1_000024" "g.32026831G>T" "" "" "" "SNTA1(NM_003098.3):c.312C>A (p.G104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33439025G>T" "" "likely benign" "" "0000296087" "0" "10" "20" "32026826" "32026826" "subst" "0.00290773" "02330" "SNTA1_000023" "g.32026826C>T" "" "" "" "SNTA1(NM_003098.2):c.317G>A (p.R106Q), SNTA1(NM_003098.3):c.317G>A (p.R106Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33439020C>T" "" "benign" "" "0000296088" "0" "50" "20" "32026775" "32026775" "subst" "0" "02330" "SNTA1_000022" "g.32026775G>C" "" "" "" "SNTA1(NM_003098.3):c.368C>G (p.A123G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33438969G>C" "" "VUS" "" "0000296089" "0" "10" "20" "32026627" "32026627" "subst" "0" "02330" "SNTA1_000021" "g.32026627C>A" "" "" "" "SNTA1(NM_003098.3):c.496+20G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33438821C>A" "" "benign" "" "0000296090" "0" "50" "20" "32005734" "32005734" "subst" "8.18418E-6" "02330" "SNTA1_000019" "g.32005734T>C" "" "" "" "SNTA1(NM_003098.2):c.497-5A>G, SNTA1(NM_003098.3):c.497-5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33417928T>C" "" "VUS" "" "0000296091" "0" "10" "20" "32005736" "32005736" "subst" "0.00214944" "02330" "SNTA1_000020" "g.32005736G>A" "" "" "" "SNTA1(NM_003098.3):c.497-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33417930G>A" "" "benign" "" "0000296092" "0" "10" "20" "32005674" "32005674" "subst" "0" "02330" "SNTA1_000018" "g.32005674C>T" "" "" "" "SNTA1(NM_003098.3):c.552G>A (p.S184=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33417868C>T" "" "benign" "" "0000296093" "0" "10" "20" "32005671" "32005671" "subst" "0.00229705" "02330" "SNTA1_000017" "g.32005671G>A" "" "" "" "SNTA1(NM_003098.3):c.555C>T (p.V185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33417865G>A" "" "benign" "" "0000296094" "0" "30" "20" "32005660" "32005660" "subst" "0.000203158" "02330" "SNTA1_000008" "g.32005660G>A" "" "" "" "SNTA1(NM_003098.2):c.566C>T (p.(Ser189Leu), p.S189L), SNTA1(NM_003098.3):c.566C>T (p.S189L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33417854G>A" "" "likely benign" "" "0000296095" "0" "10" "20" "32000462" "32000462" "subst" "0.0106085" "02330" "SNTA1_000014" "g.32000462C>T" "" "" "" "SNTA1(NM_003098.3):c.828G>A (p.K276=, p.(Lys276=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33412656C>T" "" "benign" "" "0000296096" "0" "10" "20" "32000364" "32000364" "subst" "4.0823E-6" "02330" "SNTA1_000013" "g.32000364C>G" "" "" "" "SNTA1(NM_003098.3):c.909+17G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33412558C>G" "" "benign" "" "0000296097" "0" "50" "20" "32000148" "32000148" "subst" "0" "02330" "SNTA1_000012" "g.32000148C>T" "" "" "" "SNTA1(NM_003098.3):c.994G>A (p.E332K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33412342C>T" "" "VUS" "" "0000302376" "0" "30" "20" "32031313" "32031313" "subst" "1.39774E-5" "02326" "SNTA1_000027" "g.32031313G>T" "" "" "" "SNTA1(NM_003098.2):c.114C>A (p.(Asp38Glu), p.D38E), SNTA1(NM_003098.3):c.114C>A (p.D38E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33443507G>T" "" "likely benign" "" "0000302377" "0" "30" "20" "32031206" "32031206" "subst" "0.00227089" "02326" "SNTA1_000009" "g.32031206G>A" "" "" "" "SNTA1(NM_003098.2):c.221C>T (p.P74L), SNTA1(NM_003098.3):c.221C>T (p.P74L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33443400G>A" "" "likely benign" "" "0000302378" "0" "30" "20" "32005660" "32005660" "subst" "0.000203158" "02326" "SNTA1_000008" "g.32005660G>A" "" "" "" "SNTA1(NM_003098.2):c.566C>T (p.(Ser189Leu), p.S189L), SNTA1(NM_003098.3):c.566C>T (p.S189L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33417854G>A" "" "likely benign" "" "0000302379" "0" "10" "20" "32005515" "32005515" "subst" "0.00080872" "02326" "SNTA1_000016" "g.32005515C>T" "" "" "" "SNTA1(NM_003098.2):c.701+10G>A, SNTA1(NM_003098.3):c.701+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33417709C>T" "" "benign" "" "0000328353" "0" "50" "20" "32005660" "32005660" "subst" "0.000203158" "01804" "SNTA1_000008" "g.32005660G>A" "" "" "" "SNTA1(NM_003098.2):c.566C>T (p.(Ser189Leu), p.S189L), SNTA1(NM_003098.3):c.566C>T (p.S189L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33417854G>A" "" "VUS" "" "0000328354" "0" "50" "20" "32031313" "32031313" "subst" "1.39774E-5" "01804" "SNTA1_000027" "g.32031313G>T" "" "" "" "SNTA1(NM_003098.2):c.114C>A (p.(Asp38Glu), p.D38E), SNTA1(NM_003098.3):c.114C>A (p.D38E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33443507G>T" "" "VUS" "" "0000348571" "0" "30" "20" "32031206" "32031206" "subst" "0.00227089" "02327" "SNTA1_000009" "g.32031206G>A" "" "" "" "SNTA1(NM_003098.2):c.221C>T (p.P74L), SNTA1(NM_003098.3):c.221C>T (p.P74L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33443400G>A" "" "likely benign" "" "0000470951" "1" "50" "20" "32031206" "32031206" "subst" "0.00227089" "00006" "SNTA1_000009" "g.32031206G>A" "" "{PMID:van Kuilenburg 2018:2969193}, {DOI:van Kuilenburg 2018:10.1002/humu.23538}" "" "" "" "Germline" "" "rs572545726" "0" "" "" "g.33443400G>A" "" "VUS" "" "0000470952" "2" "70" "20" "32000520" "32000520" "subst" "0.00177468" "00006" "SNTA1_000007" "g.32000520G>C" "" "{PMID:van Kuilenburg 2018:2969193}, {DOI:van Kuilenburg 2018:10.1002/humu.23538}" "" "" "" "Germline" "" "rs56157422" "0" "" "" "g.33412714G>C" "" "VUS" "" "0000569383" "0" "50" "20" "31996389" "31996389" "subst" "4.4669E-5" "02327" "SNTA1_000028" "g.31996389G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33408583G>A" "" "VUS" "" "0000569384" "0" "30" "20" "31996627" "31996627" "subst" "1.21873E-5" "02327" "SNTA1_000029" "g.31996627C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33408821C>T" "" "likely benign" "" "0000569385" "0" "30" "20" "31997969" "31997969" "subst" "2.03315E-5" "02327" "SNTA1_000030" "g.31997969G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33410163G>A" "" "likely benign" "" "0000569386" "0" "50" "20" "31998031" "31998031" "subst" "1.62912E-5" "02327" "SNTA1_000031" "g.31998031C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33410225C>T" "" "VUS" "" "0000569387" "0" "50" "20" "31998069" "31998069" "subst" "1.64002E-5" "02327" "SNTA1_000032" "g.31998069G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33410263G>A" "" "VUS" "" "0000569389" "0" "30" "20" "32000148" "32000148" "subst" "0" "02327" "SNTA1_000012" "g.32000148C>T" "" "" "" "SNTA1(NM_003098.3):c.994G>A (p.E332K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33412342C>T" "" "likely benign" "" "0000569390" "0" "10" "20" "32000158" "32000158" "subst" "0.000904659" "02330" "SNTA1_000034" "g.32000158G>A" "" "" "" "SNTA1(NM_003098.3):c.984C>T (p.P328=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33412352G>A" "" "benign" "" "0000569391" "0" "10" "20" "32000351" "32000351" "subst" "0.697835" "02327" "SNTA1_000035" "g.32000351A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33412545A>G" "" "benign" "" "0000569393" "0" "50" "20" "32000458" "32000458" "subst" "4.06388E-6" "02327" "SNTA1_000037" "g.32000458C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33412652C>T" "" "VUS" "" "0000569394" "0" "10" "20" "32000483" "32000483" "subst" "0.00486609" "02327" "SNTA1_000015" "g.32000483A>G" "" "" "" "SNTA1(NM_003098.3):c.807T>C (p.N269=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33412677A>G" "" "benign" "" "0000569395" "0" "30" "20" "32000520" "32000520" "subst" "0.00177468" "02330" "SNTA1_000007" "g.32000520G>C" "" "" "" "SNTA1(NM_003098.2):c.770C>G (p.A257G), SNTA1(NM_003098.3):c.770C>G (p.A257G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33412714G>C" "" "likely benign" "" "0000569396" "0" "30" "20" "32000520" "32000520" "subst" "0.00177468" "01943" "SNTA1_000007" "g.32000520G>C" "" "" "" "SNTA1(NM_003098.2):c.770C>G (p.A257G), SNTA1(NM_003098.3):c.770C>G (p.A257G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33412714G>C" "" "likely benign" "" "0000569397" "0" "30" "20" "32000520" "32000520" "subst" "0.00177468" "02326" "SNTA1_000007" "g.32000520G>C" "" "" "" "SNTA1(NM_003098.2):c.770C>G (p.A257G), SNTA1(NM_003098.3):c.770C>G (p.A257G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33412714G>C" "" "likely benign" "" "0000569398" "0" "10" "20" "32005515" "32005515" "subst" "0.00080872" "02330" "SNTA1_000016" "g.32005515C>T" "" "" "" "SNTA1(NM_003098.2):c.701+10G>A, SNTA1(NM_003098.3):c.701+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33417709C>T" "" "benign" "" "0000569399" "0" "50" "20" "32005549" "32005549" "subst" "0.000125898" "02330" "SNTA1_000038" "g.32005549C>T" "" "" "" "SNTA1(NM_003098.3):c.677G>A (p.C226Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33417743C>T" "" "VUS" "" "0000569400" "0" "50" "20" "32005551" "32005552" "del" "0" "02330" "SNTA1_000039" "g.32005551_32005552del" "" "" "" "SNTA1(NM_003098.3):c.674_675delGG (p.R225Mfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33417745_33417746del" "" "VUS" "" "0000569401" "0" "10" "20" "32005671" "32005671" "subst" "0.00229705" "02327" "SNTA1_000017" "g.32005671G>A" "" "" "" "SNTA1(NM_003098.3):c.555C>T (p.V185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33417865G>A" "" "benign" "" "0000569402" "0" "50" "20" "32005734" "32005734" "subst" "8.18418E-6" "02326" "SNTA1_000019" "g.32005734T>C" "" "" "" "SNTA1(NM_003098.2):c.497-5A>G, SNTA1(NM_003098.3):c.497-5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33417928T>C" "" "VUS" "" "0000569403" "0" "10" "20" "32005736" "32005736" "subst" "0.00214944" "02327" "SNTA1_000020" "g.32005736G>A" "" "" "" "SNTA1(NM_003098.3):c.497-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33417930G>A" "" "benign" "" "0000569404" "0" "10" "20" "32026826" "32026826" "subst" "0.00290773" "01943" "SNTA1_000023" "g.32026826C>T" "" "" "" "SNTA1(NM_003098.2):c.317G>A (p.R106Q), SNTA1(NM_003098.3):c.317G>A (p.R106Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33439020C>T" "" "benign" "" "0000569405" "0" "50" "20" "32031176" "32031176" "subst" "0" "02327" "SNTA1_000040" "g.32031176T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33443370T>G" "" "VUS" "" "0000569406" "0" "50" "20" "32031203" "32031203" "subst" "0" "02330" "SNTA1_000041" "g.32031203G>T" "" "" "" "SNTA1(NM_003098.3):c.224C>A (p.P75Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33443397G>T" "" "VUS" "" "0000569407" "0" "30" "20" "32031214" "32031214" "subst" "0" "02327" "SNTA1_000042" "g.32031214G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33443408G>C" "" "likely benign" "" "0000569408" "0" "50" "20" "32031233" "32031233" "subst" "0" "02327" "SNTA1_000043" "g.32031233T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33443427T>C" "" "VUS" "" "0000569409" "0" "30" "20" "32031254" "32031254" "subst" "0.000969445" "02330" "SNTA1_000044" "g.32031254T>C" "" "" "" "SNTA1(NM_003098.3):c.173A>G (p.E58G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33443448T>C" "" "likely benign" "" "0000569410" "0" "10" "20" "32031313" "32031313" "subst" "0.000209661" "02330" "SNTA1_000045" "g.32031313G>A" "" "" "" "SNTA1(NM_003098.2):c.114C>T (p.D38=), SNTA1(NM_003098.3):c.114C>T (p.D38=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33443507G>A" "" "benign" "" "0000569411" "0" "30" "20" "32031329" "32031329" "subst" "0" "02327" "SNTA1_000046" "g.32031329A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33443523A>C" "" "likely benign" "" "0000569412" "0" "10" "20" "32031414" "32031414" "subst" "0" "02330" "SNTA1_000047" "g.32031414T>G" "" "" "" "SNTA1(NM_003098.3):c.13A>C (p.R5=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33443608T>G" "" "benign" "" "0000618043" "0" "50" "20" "31996383" "31996383" "subst" "0" "02327" "SNTA1_000048" "g.31996383G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33408577G>C" "" "VUS" "" "0000618044" "0" "50" "20" "32000478" "32000478" "dup" "0" "02327" "SNTA1_000049" "g.32000478dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33412672dup" "" "VUS" "" "0000618045" "0" "50" "20" "32000514" "32000514" "subst" "3.25571E-5" "02327" "SNTA1_000050" "g.32000514G>A" "" "" "" "SNTA1(NM_003098.3):c.776C>T (p.S259L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33412708G>A" "" "VUS" "" "0000618046" "0" "30" "20" "32000571" "32000571" "subst" "0" "02327" "SNTA1_000051" "g.32000571G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33412765G>A" "" "likely benign" "" "0000618049" "0" "30" "20" "32031254" "32031254" "subst" "0.000969445" "02327" "SNTA1_000044" "g.32031254T>C" "" "" "" "SNTA1(NM_003098.3):c.173A>G (p.E58G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33443448T>C" "" "likely benign" "" "0000618050" "0" "30" "20" "32031313" "32031313" "subst" "1.39774E-5" "02330" "SNTA1_000027" "g.32031313G>T" "" "" "" "SNTA1(NM_003098.2):c.114C>A (p.(Asp38Glu), p.D38E), SNTA1(NM_003098.3):c.114C>A (p.D38E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33443507G>T" "" "likely benign" "" "0000618051" "0" "30" "20" "32031313" "32031313" "subst" "1.39774E-5" "02327" "SNTA1_000027" "g.32031313G>T" "" "" "" "SNTA1(NM_003098.2):c.114C>A (p.(Asp38Glu), p.D38E), SNTA1(NM_003098.3):c.114C>A (p.D38E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33443507G>T" "" "likely benign" "" "0000624144" "0" "30" "20" "32031261" "32031261" "subst" "0.000486444" "02330" "SNTA1_000053" "g.32031261G>A" "" "" "" "SNTA1(NM_003098.3):c.166C>T (p.P56S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33443455G>A" "" "likely benign" "" "0000624145" "0" "50" "20" "32031302" "32031302" "subst" "0" "02330" "SNTA1_000054" "g.32031302A>G" "" "" "" "SNTA1(NM_003098.3):c.125T>C (p.V42A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33443496A>G" "" "VUS" "" "0000650768" "1" "50" "20" "32000462" "32000462" "subst" "0.0106085" "03575" "SNTA1_000014" "g.32000462C>T" "67/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 67 heterozygous; {DB:CLININrs35938843}" "Germline" "" "rs35938843" "0" "" "" "g.33412656C>T" "" "VUS" "" "0000650769" "1" "50" "20" "32000520" "32000520" "subst" "0.00177468" "03575" "SNTA1_000007" "g.32000520G>C" "3/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; {DB:CLININrs56157422}" "Germline" "" "rs56157422" "0" "" "" "g.33412714G>C" "" "VUS" "" "0000650770" "1" "50" "20" "32026703" "32026703" "subst" "0.000166485" "03575" "SNTA1_000055" "g.32026703G>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs141724500}" "Germline" "" "rs141724500" "0" "" "" "g.33438897G>T" "" "VUS" "" "0000658743" "0" "30" "20" "32031111" "32031111" "subst" "0" "02330" "SNTA1_000056" "g.32031111G>C" "" "" "" "SNTA1(NM_003098.3):c.310+6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33443305G>C" "" "likely benign" "" "0000669668" "3" "50" "20" "32000462" "32000462" "subst" "0.0106085" "03575" "SNTA1_000014" "g.32000462C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 homozygous; {DB:CLININrs35938843}" "Germline" "" "rs35938843" "0" "" "" "g.33412656C>T" "" "VUS" "" "0000681583" "0" "10" "20" "32000361" "32000361" "subst" "4.08373E-6" "02330" "SNTA1_000057" "g.32000361G>A" "" "" "" "SNTA1(NM_003098.3):c.909+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000681584" "0" "30" "20" "32031207" "32031207" "subst" "0" "02327" "SNTA1_000058" "g.32031207G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681585" "0" "50" "20" "32031245" "32031245" "subst" "0" "02327" "SNTA1_000059" "g.32031245G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681586" "0" "50" "20" "32031264" "32031265" "ins" "0" "02327" "SNTA1_000060" "g.32031264_32031265insACCT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681587" "0" "30" "20" "32031313" "32031313" "subst" "0.000209661" "01943" "SNTA1_000045" "g.32031313G>A" "" "" "" "SNTA1(NM_003098.2):c.114C>T (p.D38=), SNTA1(NM_003098.3):c.114C>T (p.D38=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681588" "0" "30" "20" "32031313" "32031313" "subst" "0.000209661" "02326" "SNTA1_000045" "g.32031313G>A" "" "" "" "SNTA1(NM_003098.2):c.114C>T (p.D38=), SNTA1(NM_003098.3):c.114C>T (p.D38=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681589" "0" "30" "20" "32031313" "32031313" "subst" "0" "02327" "SNTA1_000061" "g.32031313G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692959" "0" "10" "20" "32026831" "32026831" "subst" "0.000609201" "02330" "SNTA1_000062" "g.32026831G>A" "" "" "" "SNTA1(NM_003098.3):c.312C>T (p.G104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000692960" "0" "10" "20" "32026838" "32026838" "subst" "0.000450871" "02330" "SNTA1_000063" "g.32026838C>G" "" "" "" "SNTA1(NM_003098.3):c.311-6G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000727646" "0" "30" "20" "31996352" "31996352" "subst" "0.000170557" "02326" "SNTA1_000064" "g.31996352G>A" "" "" "" "SNTA1(NM_003098.2):c.1479C>T (p.F493=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727647" "0" "50" "20" "32031267" "32031267" "subst" "0.000154478" "01943" "SNTA1_000065" "g.32031267C>G" "" "" "" "SNTA1(NM_003098.2):c.160G>C (p.G54R), SNTA1(NM_003098.3):c.160G>C (p.G54R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809203" "0" "30" "20" "32005713" "32005713" "subst" "5.71046E-5" "02326" "SNTA1_000066" "g.32005713G>A" "" "" "" "SNTA1(NM_003098.2):c.513C>T (p.D171=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809204" "0" "10" "20" "32031217" "32031217" "subst" "0.000658111" "02330" "SNTA1_000067" "g.32031217C>G" "" "" "" "SNTA1(NM_003098.3):c.210G>C (p.P70=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855792" "0" "30" "20" "31996305" "31996305" "subst" "4.0655E-6" "02330" "SNTA1_000068" "g.31996305G>A" "" "" "" "SNTA1(NM_003098.3):c.*8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855793" "0" "10" "20" "31996708" "31996708" "subst" "0.000130459" "02330" "SNTA1_000069" "g.31996708A>G" "" "" "" "SNTA1(NM_003098.3):c.1238-14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855794" "0" "30" "20" "31998098" "31998098" "subst" "9.59885E-5" "02327" "SNTA1_000070" "g.31998098G>A" "" "" "" "SNTA1(NM_003098.2):c.1080C>T (p.Y360=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855795" "0" "30" "20" "32031202" "32031202" "subst" "0" "02327" "SNTA1_000071" "g.32031202C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855796" "0" "30" "20" "32031261" "32031261" "subst" "0" "02327" "SNTA1_000072" "g.32031261G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895270" "0" "10" "20" "31996343" "31996343" "subst" "0.000243722" "02330" "SNTA1_000073" "g.31996343G>T" "" "" "" "SNTA1(NM_003098.2):c.1488C>A (p.A496=), SNTA1(NM_003098.3):c.1488C>A (p.A496=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000895271" "0" "50" "20" "31998067" "31998067" "subst" "0" "02326" "SNTA1_000074" "g.31998067C>G" "" "" "" "SNTA1(NM_003098.2):c.1111G>C (p.G371R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895272" "0" "50" "20" "32000514" "32000514" "subst" "3.25571E-5" "02330" "SNTA1_000050" "g.32000514G>A" "" "" "" "SNTA1(NM_003098.3):c.776C>T (p.S259L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895273" "0" "50" "20" "32031267" "32031267" "subst" "0.000154478" "02330" "SNTA1_000065" "g.32031267C>G" "" "" "" "SNTA1(NM_003098.2):c.160G>C (p.G54R), SNTA1(NM_003098.3):c.160G>C (p.G54R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895274" "0" "30" "20" "32031298" "32031298" "subst" "0" "02326" "SNTA1_000075" "g.32031298G>A" "" "" "" "SNTA1(NM_003098.2):c.129C>T (p.S43=), SNTA1(NM_003098.3):c.129C>T (p.S43=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895275" "0" "30" "20" "32031299" "32031299" "subst" "0.000139101" "02327" "SNTA1_000026" "g.32031299C>T" "" "" "" "SNTA1(NM_003098.3):c.128G>A (p.S43N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915359" "0" "30" "20" "31996343" "31996343" "subst" "0.000243722" "02326" "SNTA1_000073" "g.31996343G>T" "" "" "" "SNTA1(NM_003098.2):c.1488C>A (p.A496=), SNTA1(NM_003098.3):c.1488C>A (p.A496=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951420" "0" "50" "20" "32026768" "32026768" "subst" "4.06055E-6" "02326" "SNTA1_000052" "g.32026768C>G" "" "" "" "SNTA1(NM_003098.2):c.375G>C (p.Q125H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951421" "0" "50" "20" "32031399" "32031399" "subst" "0" "02325" "SNTA1_000076" "g.32031399T>G" "" "" "" "SNTA1(NM_003098.3):c.28A>C (p.T10P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000970119" "0" "30" "20" "31998090" "31998090" "subst" "0.000322234" "02330" "SNTA1_000077" "g.31998090T>G" "" "" "" "SNTA1(NM_003098.3):c.1088A>C (p.E363A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970120" "0" "30" "20" "31998098" "31998098" "subst" "9.59885E-5" "02326" "SNTA1_000070" "g.31998098G>A" "" "" "" "SNTA1(NM_003098.2):c.1080C>T (p.Y360=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000987845" "0" "50" "20" "31997998" "31997998" "subst" "2.849E-5" "03779" "SNTA1_000078" "g.31997998G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs567451585" "0" "" "" "" "" "VUS" "" "0000989779" "0" "50" "20" "32031227" "32031227" "subst" "0" "02515" "SNTA1_000079" "g.32031227G>A" "" "Fusco 2042, submitted" "" "" "variant not definitively linked to disease" "Germline" "" "rs536755693" "0" "" "" "g.33443421G>A" "RCV000590155" "VUS" "" "0001005336" "0" "30" "20" "32031298" "32031298" "subst" "0" "02330" "SNTA1_000075" "g.32031298G>A" "" "" "" "SNTA1(NM_003098.2):c.129C>T (p.S43=), SNTA1(NM_003098.3):c.129C>T (p.S43=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027309" "0" "10" "20" "31996489" "31996489" "del" "0.000129946" "02330" "SNTA1_000080" "g.31996489del" "" "" "" "SNTA1(NM_003098.3):c.1425+18delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001043311" "0" "30" "20" "32000462" "32000462" "subst" "0.0106085" "01804" "SNTA1_000014" "g.32000462C>T" "" "" "" "SNTA1(NM_003098.3):c.828G>A (p.K276=, p.(Lys276=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043312" "0" "30" "20" "32005660" "32005660" "subst" "0.000203158" "02325" "SNTA1_000008" "g.32005660G>A" "" "" "" "SNTA1(NM_003098.2):c.566C>T (p.(Ser189Leu), p.S189L), SNTA1(NM_003098.3):c.566C>T (p.S189L)" "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 SNTA1 ## Count = 108 "{{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}}" "0000096530" "00019959" "50" "770" "0" "770" "0" "c.770C>G" "r.(?)" "p.(Ala257Gly)" "4" "0000218376" "00019959" "50" "221" "0" "221" "0" "c.221C>T" "r.(?)" "p.(Pro74Leu)" "" "0000218435" "00019959" "50" "221" "0" "221" "0" "c.221C>T" "r.(?)" "p.(Pro74Leu)" "" "0000218495" "00019959" "50" "566" "0" "566" "0" "c.566C>T" "r.(?)" "p.(Ser189Leu)" "" "0000247664" "00019959" "10" "807" "0" "807" "0" "c.807T>C" "r.(?)" "p.(Asn269=)" "" "0000247667" "00019959" "10" "1426" "-5" "1426" "-5" "c.1426-5T>C" "r.spl?" "p.?" "" "0000296082" "00019959" "50" "128" "0" "128" "0" "c.128G>A" "r.(?)" "p.(Ser43Asn)" "" "0000296083" "00019959" "10" "1350" "0" "1350" "0" "c.1350C>T" "r.(?)" "p.(Phe450=)" "" "0000296084" "00019959" "30" "221" "0" "221" "0" "c.221C>T" "r.(?)" "p.(Pro74Leu)" "" "0000296085" "00019959" "10" "311" "-20" "311" "-20" "c.311-20C>G" "r.(=)" "p.(=)" "" "0000296086" "00019959" "30" "312" "0" "312" "0" "c.312C>A" "r.(?)" "p.(Gly104=)" "" "0000296087" "00019959" "10" "317" "0" "317" "0" "c.317G>A" "r.(?)" "p.(Arg106Gln)" "" "0000296088" "00019959" "50" "368" "0" "368" "0" "c.368C>G" "r.(?)" "p.(Ala123Gly)" "" "0000296089" "00019959" "10" "496" "20" "496" "20" "c.496+20G>T" "r.(=)" "p.(=)" "" "0000296090" "00019959" "50" "497" "-5" "497" "-5" "c.497-5A>G" "r.spl?" "p.?" "" "0000296091" "00019959" "10" "497" "-7" "497" "-7" "c.497-7C>T" "r.(=)" "p.(=)" "" "0000296092" "00019959" "10" "552" "0" "552" "0" "c.552G>A" "r.(?)" "p.(Ser184=)" "" "0000296093" "00019959" "10" "555" "0" "555" "0" "c.555C>T" "r.(?)" "p.(Val185=)" "" "0000296094" "00019959" "30" "566" "0" "566" "0" "c.566C>T" "r.(?)" "p.(Ser189Leu)" "" "0000296095" "00019959" "10" "828" "0" "828" "0" "c.828G>A" "r.(?)" "p.(Lys276=)" "" "0000296096" "00019959" "10" "909" "17" "909" "17" "c.909+17G>C" "r.(=)" "p.(=)" "" "0000296097" "00019959" "50" "994" "0" "994" "0" "c.994G>A" "r.(?)" "p.(Glu332Lys)" "" "0000302376" "00019959" "30" "114" "0" "114" "0" "c.114C>A" "r.(?)" "p.(Asp38Glu)" "" "0000302377" "00019959" "30" "221" "0" "221" "0" "c.221C>T" "r.(?)" "p.(Pro74Leu)" "" "0000302378" "00019959" "30" "566" "0" "566" "0" "c.566C>T" "r.(?)" "p.(Ser189Leu)" "" "0000302379" "00019959" "10" "701" "10" "701" "10" "c.701+10G>A" "r.(=)" "p.(=)" "" "0000328353" "00019959" "50" "566" "0" "566" "0" "c.566C>T" "r.(?)" "p.(Ser189Leu)" "" "0000328354" "00019959" "50" "114" "0" "114" "0" "c.114C>A" "r.(?)" "p.(Asp38Glu)" "" "0000348571" "00019959" "30" "221" "0" "221" "0" "c.221C>T" "r.(?)" "p.(Pro74Leu)" "" "0000470951" "00019959" "50" "221" "0" "221" "0" "c.221C>T" "r.(?)" "p.(Pro74Leu)" "" "0000470952" "00019959" "70" "770" "0" "770" "0" "c.770C>G" "r.(?)" "p.(Ala257Gly)" "" "0000569383" "00019959" "50" "1442" "0" "1442" "0" "c.1442C>T" "r.(?)" "p.(Ser481Leu)" "" "0000569384" "00019959" "30" "1305" "0" "1305" "0" "c.1305G>A" "r.(?)" "p.(Ala435=)" "" "0000569385" "00019959" "30" "1209" "0" "1209" "0" "c.1209C>T" "r.(?)" "p.(Ala403=)" "" "0000569386" "00019959" "50" "1147" "0" "1147" "0" "c.1147G>A" "r.(?)" "p.(Val383Met)" "" "0000569387" "00019959" "50" "1109" "0" "1109" "0" "c.1109C>T" "r.(?)" "p.(Thr370Met)" "" "0000569389" "00019959" "30" "994" "0" "994" "0" "c.994G>A" "r.(?)" "p.(Glu332Lys)" "" "0000569390" "00019959" "10" "984" "0" "984" "0" "c.984C>T" "r.(?)" "p.(Pro328=)" "" "0000569391" "00019959" "10" "909" "30" "909" "30" "c.909+30T>C" "r.(=)" "p.(=)" "" "0000569393" "00019959" "50" "832" "0" "832" "0" "c.832G>A" "r.(?)" "p.(Glu278Lys)" "" "0000569394" "00019959" "10" "807" "0" "807" "0" "c.807T>C" "r.(?)" "p.(Asn269=)" "" "0000569395" "00019959" "30" "770" "0" "770" "0" "c.770C>G" "r.(?)" "p.(Ala257Gly)" "" "0000569396" "00019959" "30" "770" "0" "770" "0" "c.770C>G" "r.(?)" "p.(Ala257Gly)" "" "0000569397" "00019959" "30" "770" "0" "770" "0" "c.770C>G" "r.(?)" "p.(Ala257Gly)" "" "0000569398" "00019959" "10" "701" "10" "701" "10" "c.701+10G>A" "r.(=)" "p.(=)" "" "0000569399" "00019959" "50" "677" "0" "677" "0" "c.677G>A" "r.(?)" "p.(Cys226Tyr)" "" "0000569400" "00019959" "50" "674" "0" "675" "0" "c.674_675del" "r.(?)" "p.(Arg225MetfsTer5)" "" "0000569401" "00019959" "10" "555" "0" "555" "0" "c.555C>T" "r.(?)" "p.(Val185=)" "" "0000569402" "00019959" "50" "497" "-5" "497" "-5" "c.497-5A>G" "r.spl?" "p.?" "" "0000569403" "00019959" "10" "497" "-7" "497" "-7" "c.497-7C>T" "r.(=)" "p.(=)" "" "0000569404" "00019959" "10" "317" "0" "317" "0" "c.317G>A" "r.(?)" "p.(Arg106Gln)" "" "0000569405" "00019959" "50" "251" "0" "251" "0" "c.251A>C" "r.(?)" "p.(Gln84Pro)" "" "0000569406" "00019959" "50" "224" "0" "224" "0" "c.224C>A" "r.(?)" "p.(Pro75Gln)" "" "0000569407" "00019959" "30" "213" "0" "213" "0" "c.213C>G" "r.(?)" "p.(Gly71=)" "" "0000569408" "00019959" "50" "194" "0" "194" "0" "c.194A>G" "r.(?)" "p.(Asn65Ser)" "" "0000569409" "00019959" "30" "173" "0" "173" "0" "c.173A>G" "r.(?)" "p.(Glu58Gly)" "" "0000569410" "00019959" "10" "114" "0" "114" "0" "c.114C>T" "r.(?)" "p.(Asp38=)" "" "0000569411" "00019959" "30" "98" "0" "98" "0" "c.98T>G" "r.(?)" "p.(Leu33Arg)" "" "0000569412" "00019959" "10" "13" "0" "13" "0" "c.13A>C" "r.(?)" "p.(Arg5=)" "" "0000618043" "00019959" "50" "1448" "0" "1448" "0" "c.1448C>G" "r.(?)" "p.(Pro483Arg)" "" "0000618044" "00019959" "50" "812" "0" "812" "0" "c.812dup" "r.(?)" "p.(Thr272AspfsTer7)" "" "0000618045" "00019959" "50" "776" "0" "776" "0" "c.776C>T" "r.(?)" "p.(Ser259Leu)" "" "0000618046" "00019959" "30" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Ser240Leu)" "" "0000618049" "00019959" "30" "173" "0" "173" "0" "c.173A>G" "r.(?)" "p.(Glu58Gly)" "" "0000618050" "00019959" "30" "114" "0" "114" "0" "c.114C>A" "r.(?)" "p.(Asp38Glu)" "" "0000618051" "00019959" "30" "114" "0" "114" "0" "c.114C>A" "r.(?)" "p.(Asp38Glu)" "" "0000624144" "00019959" "30" "166" "0" "166" "0" "c.166C>T" "r.(?)" "p.(Pro56Ser)" "" "0000624145" "00019959" "50" "125" "0" "125" "0" "c.125T>C" "r.(?)" "p.(Val42Ala)" "" "0000650768" "00019959" "50" "828" "0" "828" "0" "c.828G>A" "r.(=)" "p.(=)" "" "0000650769" "00019959" "50" "770" "0" "770" "0" "c.770C>G" "r.(?)" "p.(Ala257Gly)" "" "0000650770" "00019959" "50" "440" "0" "440" "0" "c.440C>A" "r.(?)" "p.(Thr147Asn)" "" "0000658743" "00019959" "30" "310" "6" "310" "6" "c.310+6C>G" "r.(=)" "p.(=)" "" "0000669668" "00019959" "50" "828" "0" "828" "0" "c.828G>A" "r.(=)" "p.(=)" "" "0000681583" "00019959" "10" "909" "20" "909" "20" "c.909+20C>T" "r.(=)" "p.(=)" "" "0000681584" "00019959" "30" "220" "0" "220" "0" "c.220C>T" "r.(?)" "p.(Pro74Ser)" "" "0000681585" "00019959" "50" "182" "0" "182" "0" "c.182C>G" "r.(?)" "p.(Pro61Arg)" "" "0000681586" "00019959" "50" "162" "0" "163" "0" "c.162_163insAGGT" "r.(?)" "p.(Ala55ArgfsTer71)" "" "0000681587" "00019959" "30" "114" "0" "114" "0" "c.114C>T" "r.(?)" "p.(Asp38=)" "" "0000681588" "00019959" "30" "114" "0" "114" "0" "c.114C>T" "r.(?)" "p.(Asp38=)" "" "0000681589" "00019959" "30" "114" "0" "114" "0" "c.114C>G" "r.(?)" "p.(Asp38Glu)" "" "0000692959" "00019959" "10" "312" "0" "312" "0" "c.312C>T" "r.(?)" "p.(Gly104=)" "" "0000692960" "00019959" "10" "311" "-6" "311" "-6" "c.311-6G>C" "r.(=)" "p.(=)" "" "0000727646" "00019959" "30" "1479" "0" "1479" "0" "c.1479C>T" "r.(?)" "p.(Phe493=)" "" "0000727647" "00019959" "50" "160" "0" "160" "0" "c.160G>C" "r.(?)" "p.(Gly54Arg)" "" "0000809203" "00019959" "30" "513" "0" "513" "0" "c.513C>T" "r.(?)" "p.(Asp171=)" "" "0000809204" "00019959" "10" "210" "0" "210" "0" "c.210G>C" "r.(?)" "p.(Pro70=)" "" "0000855792" "00019959" "30" "1526" "0" "1526" "0" "c.*8C>T" "r.(=)" "p.(=)" "" "0000855793" "00019959" "10" "1238" "-14" "1238" "-14" "c.1238-14T>C" "r.(=)" "p.(=)" "" "0000855794" "00019959" "30" "1080" "0" "1080" "0" "c.1080C>T" "r.(?)" "p.(Tyr360=)" "" "0000855795" "00019959" "30" "225" "0" "225" "0" "c.225G>C" "r.(?)" "p.(Pro75=)" "" "0000855796" "00019959" "30" "166" "0" "166" "0" "c.166C>G" "r.(?)" "p.(Pro56Ala)" "" "0000895270" "00019959" "10" "1488" "0" "1488" "0" "c.1488C>A" "r.(?)" "p.(Ala496=)" "" "0000895271" "00019959" "50" "1111" "0" "1111" "0" "c.1111G>C" "r.(?)" "p.(Gly371Arg)" "" "0000895272" "00019959" "50" "776" "0" "776" "0" "c.776C>T" "r.(?)" "p.(Ser259Leu)" "" "0000895273" "00019959" "50" "160" "0" "160" "0" "c.160G>C" "r.(?)" "p.(Gly54Arg)" "" "0000895274" "00019959" "30" "129" "0" "129" "0" "c.129C>T" "r.(?)" "p.(Ser43=)" "" "0000895275" "00019959" "30" "128" "0" "128" "0" "c.128G>A" "r.(?)" "p.(Ser43Asn)" "" "0000915359" "00019959" "30" "1488" "0" "1488" "0" "c.1488C>A" "r.(?)" "p.(Ala496=)" "" "0000951420" "00019959" "50" "375" "0" "375" "0" "c.375G>C" "r.(?)" "p.(Gln125His)" "" "0000951421" "00019959" "50" "28" "0" "28" "0" "c.28A>C" "r.(?)" "p.(Thr10Pro)" "" "0000970119" "00019959" "30" "1088" "0" "1088" "0" "c.1088A>C" "r.(?)" "p.(Glu363Ala)" "" "0000970120" "00019959" "30" "1080" "0" "1080" "0" "c.1080C>T" "r.(?)" "p.(Tyr360=)" "" "0000987845" "00019959" "50" "1180" "0" "1180" "0" "c.1180C>T" "r.(?)" "p.(Arg394Cys)" "" "0000989779" "00019959" "50" "200" "0" "200" "0" "c.200C>T" "r.(?)" "p.(Ala67Val)" "" "0001005336" "00019959" "30" "129" "0" "129" "0" "c.129C>T" "r.(?)" "p.(Ser43=)" "" "0001027309" "00019959" "10" "1425" "18" "1425" "18" "c.1425+18del" "r.(=)" "p.(=)" "" "0001043311" "00019959" "30" "828" "0" "828" "0" "c.828G>A" "r.(?)" "p.(Lys276=)" "" "0001043312" "00019959" "30" "566" "0" "566" "0" "c.566C>T" "r.(?)" "p.(Ser189Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000064877" "0000096530" "0000129235" "0000218376" "0000129281" "0000218435" "0000129323" "0000218495" "0000229755" "0000470951" "0000229755" "0000470952" "0000294079" "0000650768" "0000294080" "0000650769" "0000294081" "0000650770" "0000305980" "0000669668" "0000454878" "0000989779"