### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SPTA1) # 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}}" "SPTA1" "spectrin, alpha, erythrocytic 1 (elliptocytosis 2)" "1" "q21" "unknown" "NG_011474.1" "UD_132118383152" "" "https://www.LOVD.nl/SPTA1" "" "1" "11272" "6708" "182860" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/SPTA1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-09-15 10:14:32" "00000" "2025-12-01 15:53:03" ## 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}}" "00020250" "SPTA1" "spectrin, alpha, erythrocytic 1 (elliptocytosis 2)" "001" "NM_003126.2" "" "NP_003117.2" "" "" "" "-199" "7818" "7260" "158656506" "158580496" "" "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" "01303" "EL2" "Elliptocytosis 2" "" "130600" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01561" "SPH1" "spherocytosis, type 1 (SPH1)" "AD;AR" "182900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-09-15 10:12:59" "02043" "HPP" "pyropoikilocytosis, hereditary" "AR" "266140" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02080" "SPH3" "spherocytosis, type 3 (SPH3)" "AR" "270970" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-09-15 10:14:14" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "SPTA1" "01303" "SPTA1" "01561" "SPTA1" "02043" "SPTA1" "02080" ## 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}}" "00144507" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00289548" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289549" "" "" "" "228" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289550" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289551" "" "" "" "13" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289553" "" "" "" "31" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289554" "" "" "" "13" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295109" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304150" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304151" "" "" "" "2" "" "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 = 10 "{{individualid}}" "{{diseaseid}}" "00144507" "00198" "00289548" "00198" "00289549" "00198" "00289550" "00198" "00289551" "00198" "00289553" "00198" "00289554" "00198" "00295109" "00198" "00304150" "00198" "00304151" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01303, 01561, 02043, 02080 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000117245" "00198" "00144507" "01807" "Unknown" "" "HP:0004444 (Spherocytosis)" "" "" "" "" "" "" "" "" "" "" "" ## 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}}" "0000145364" "00144507" "0" "01807" "01807" "2017-12-15 14:21:14" "" "" "SEQ" "DNA" "" "" "0000290716" "00289548" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290717" "00289549" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290718" "00289550" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290719" "00289551" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290721" "00289553" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290722" "00289554" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296277" "00295109" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305279" "00304150" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305280" "00304151" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 267 "{{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}}" "0000236477" "0" "70" "1" "158614986" "158614986" "subst" "0" "01807" "SPTA1_000001" "g.158614986C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.158645196C>A" "" "likely pathogenic" "" "0000248183" "0" "10" "1" "158631171" "158631171" "subst" "0.267398" "02325" "SPTA1_000083" "g.158631171A>C" "" "" "" "SPTA1(NM_003126.3):c.2493T>G (p.L831=), SPTA1(NM_003126.4):c.2493T>G (p.L831=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158661381A>C" "" "benign" "" "0000248184" "0" "10" "1" "158647495" "158647495" "subst" "0.986823" "02325" "SPTA1_000114" "g.158647495A>T" "" "" "" "SPTA1(NM_003126.3):c.942T>A (p.A314=), SPTA1(NM_003126.4):c.942T>A (p.A314=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158677705A>T" "" "benign" "" "0000248208" "0" "10" "1" "158612236" "158612236" "subst" "0.57839" "02325" "SPTA1_000145" "g.158612236A>G" "" "" "" "SPTA1(NM_003126.3):c.4702T>C (p.C1568R), SPTA1(NM_003126.4):c.4702T>C (p.C1568R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158642446A>G" "" "benign" "" "0000248215" "0" "10" "1" "158584091" "158584091" "subst" "0.537441" "02325" "SPTA1_000011" "g.158584091A>G" "" "" "" "SPTA1(NM_003126.3):c.6794T>C (p.I2265T), SPTA1(NM_003126.4):c.6794T>C (p.I2265T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158614301A>G" "" "benign" "" "0000248221" "0" "10" "1" "158619728" "158619728" "subst" "0.99845" "02325" "SPTA1_000066" "g.158619728A>C" "" "" "" "SPTA1(NM_003126.3):c.3487T>G (p.S1163A), SPTA1(NM_003126.4):c.3487T>G (p.S1163A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158649938A>C" "" "benign" "" "0000250886" "0" "10" "1" "158631171" "158631171" "subst" "0.267398" "02326" "SPTA1_000083" "g.158631171A>C" "" "" "" "SPTA1(NM_003126.3):c.2493T>G (p.L831=), SPTA1(NM_003126.4):c.2493T>G (p.L831=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158661381A>C" "" "benign" "" "0000250887" "0" "10" "1" "158647495" "158647495" "subst" "0.986823" "02326" "SPTA1_000114" "g.158647495A>T" "" "" "" "SPTA1(NM_003126.3):c.942T>A (p.A314=), SPTA1(NM_003126.4):c.942T>A (p.A314=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158677705A>T" "" "benign" "" "0000250911" "0" "10" "1" "158612236" "158612236" "subst" "0.57839" "02326" "SPTA1_000145" "g.158612236A>G" "" "" "" "SPTA1(NM_003126.3):c.4702T>C (p.C1568R), SPTA1(NM_003126.4):c.4702T>C (p.C1568R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158642446A>G" "" "benign" "" "0000250918" "0" "10" "1" "158584091" "158584091" "subst" "0.537441" "02326" "SPTA1_000011" "g.158584091A>G" "" "" "" "SPTA1(NM_003126.3):c.6794T>C (p.I2265T), SPTA1(NM_003126.4):c.6794T>C (p.I2265T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158614301A>G" "" "benign" "" "0000250924" "0" "10" "1" "158619728" "158619728" "subst" "0.99845" "02326" "SPTA1_000066" "g.158619728A>C" "" "" "" "SPTA1(NM_003126.3):c.3487T>G (p.S1163A), SPTA1(NM_003126.4):c.3487T>G (p.S1163A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158649938A>C" "" "benign" "" "0000251173" "0" "10" "1" "158596524" "158596524" "subst" "0" "02326" "SPTA1_000032" "g.158596524A>G" "" "" "" "SPTA1(NM_003126.3):c.5833+105T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158626734A>G" "" "benign" "" "0000251174" "0" "10" "1" "158596821" "158596821" "subst" "0.00894877" "02326" "SPTA1_000034" "g.158596821A>G" "" "" "" "SPTA1(NM_003126.3):c.5665-24T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158627031A>G" "" "benign" "" "0000251175" "0" "10" "1" "158597309" "158597309" "subst" "0" "02326" "SPTA1_000036" "g.158597309A>G" "" "" "" "SPTA1(NM_003126.3):c.5664+106T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158627519A>G" "" "benign" "" "0000251176" "0" "10" "1" "158612112" "158612112" "subst" "0" "02326" "SPTA1_000051" "g.158612112A>T" "" "" "" "SPTA1(NM_003126.3):c.4737+89T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158642322A>T" "" "benign" "" "0000251177" "0" "10" "1" "158612150" "158612150" "subst" "0" "02326" "SPTA1_000052" "g.158612150A>G" "" "" "" "SPTA1(NM_003126.3):c.4737+51T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158642360A>G" "" "benign" "" "0000251178" "0" "10" "1" "158618480" "158618480" "subst" "0.2445" "02326" "SPTA1_000064" "g.158618480A>T" "" "" "" "SPTA1(NM_003126.3):c.3570-37T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158648690A>T" "" "benign" "" "0000251179" "0" "10" "1" "158619822" "158619822" "subst" "0" "02326" "SPTA1_000067" "g.158619822A>C" "" "" "" "SPTA1(NM_003126.3):c.3478-85T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158650032A>C" "" "benign" "" "0000251180" "0" "10" "1" "158626590" "158626590" "subst" "0" "02326" "SPTA1_000147" "g.158626590A>G" "" "" "" "SPTA1(NM_003126.3):c.2806-144T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158656800A>G" "" "benign" "" "0000251181" "0" "10" "1" "158632919" "158632919" "subst" "0" "02326" "SPTA1_000090" "g.158632919A>G" "" "" "" "SPTA1(NM_003126.3):c.2221-184T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158663129A>G" "" "benign" "" "0000251182" "0" "10" "1" "158637881" "158637881" "del" "0" "02326" "SPTA1_000098" "g.158637881del" "" "" "" "SPTA1(NM_003126.3):c.1834-14delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158668091del" "" "benign" "" "0000251183" "0" "10" "1" "158639029" "158639029" "subst" "0" "02326" "SPTA1_000101" "g.158639029A>G" "" "" "" "SPTA1(NM_003126.3):c.1833+169T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158669239A>G" "" "benign" "" "0000251184" "0" "10" "1" "158639601" "158639601" "subst" "0.444809" "02326" "SPTA1_000105" "g.158639601A>G" "" "" "" "SPTA1(NM_003126.3):c.1600-25T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158669811A>G" "" "benign" "" "0000251185" "0" "10" "1" "158645762" "158645762" "subst" "0" "02326" "SPTA1_000111" "g.158645762A>G" "" "" "" "SPTA1(NM_003126.3):c.1112+169T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158675972A>G" "" "benign" "" "0000251186" "0" "10" "1" "158647312" "158647312" "subst" "0" "02326" "SPTA1_000113" "g.158647312A>G" "" "" "" "SPTA1(NM_003126.3):c.957+168T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158677522A>G" "" "benign" "" "0000251187" "0" "10" "1" "158647729" "158647729" "subst" "0" "02326" "SPTA1_000118" "g.158647729A>G" "" "" "" "SPTA1(NM_003126.3):c.813-105T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158677939A>G" "" "benign" "" "0000251188" "0" "10" "1" "158648105" "158648105" "subst" "0" "02326" "SPTA1_000120" "g.158648105A>C" "" "" "" "SPTA1(NM_003126.3):c.812+86T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158678315A>C" "" "benign" "" "0000251189" "0" "10" "1" "158654852" "158654852" "subst" "0.550855" "02326" "SPTA1_000128" "g.158654852A>G" "" "" "" "SPTA1(NM_003126.3):c.264+46T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158685062A>G" "" "benign" "" "0000251190" "0" "10" "1" "158656367" "158656367" "subst" "0" "02326" "SPTA1_000141" "g.158656367A>G" "" "" "" "SPTA1(NM_003126.3):c.-60T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158686577A>G" "" "benign" "" "0000251191" "0" "10" "1" "158656443" "158656443" "del" "0" "02326" "SPTA1_000143" "g.158656443del" "" "" "" "SPTA1(NM_003126.3):c.-126delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158686653del" "" "benign" "" "0000252004" "0" "30" "1" "158656433" "158656433" "subst" "0" "02326" "SPTA1_000144" "g.158656433A>G" "" "" "" "SPTA1(NM_003126.3):c.-126T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158686643A>G" "" "likely benign" "" "0000252540" "0" "90" "1" "158648224" "158648224" "subst" "1.22066E-5" "02326" "SPTA1_000122" "g.158648224A>G" "" "" "" "SPTA1(NM_003126.3):c.779T>C (p.L260P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158678434A>G" "" "pathogenic" "" "0000252608" "0" "90" "1" "158637727" "158637727" "subst" "0" "02326" "SPTA1_000092" "g.158637727A>T" "" "" "" "SPTA1(NM_003126.3):c.1959T>A (p.Y653*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158667937A>T" "" "pathogenic" "" "0000252610" "0" "90" "1" "158619644" "158619644" "subst" "0" "02326" "SPTA1_000146" "g.158619644A>G" "" "" "" "SPTA1(NM_003126.3):c.3569+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158649854A>G" "" "pathogenic" "" "0000252611" "0" "90" "1" "158626459" "158626459" "subst" "0" "02326" "SPTA1_000076" "g.158626459A>C" "" "" "" "SPTA1(NM_003126.3):c.2806-13T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158656669A>C" "" "pathogenic" "" "0000255184" "0" "30" "1" "158627260" "158627260" "subst" "0" "01943" "SPTA1_000077" "g.158627260A>C" "" "" "" "SPTA1(NM_003126.3):c.2805+7T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158657470A>C" "" "likely benign" "" "0000311529" "0" "10" "1" "158655036" "158655036" "subst" "0.993045" "02325" "SPTA1_000129" "g.158655036G>A" "" "" "" "SPTA1(NM_003126.3):c.126C>T (p.V42=), SPTA1(NM_003126.4):c.126C>T (p.V42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158685246G>A" "" "benign" "" "0000311530" "0" "10" "1" "158644105" "158644105" "subst" "0.402817" "02325" "SPTA1_000109" "g.158644105T>A" "" "" "" "SPTA1(NM_003126.3):c.1350+14A>T, SPTA1(NM_003126.4):c.1350+14A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158674315T>A" "" "benign" "" "0000311531" "0" "10" "1" "158656281" "158656281" "subst" "0.993099" "02325" "SPTA1_000138" "g.158656281T>C" "" "" "" "SPTA1(NM_003126.3):c.24+3A>G, SPTA1(NM_003126.4):c.24+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158686491T>C" "" "benign" "" "0000311532" "0" "10" "1" "158626378" "158626378" "subst" "0.306697" "02325" "SPTA1_000075" "g.158626378C>T" "" "" "" "SPTA1(NM_003126.3):c.2874G>A (p.L958=), SPTA1(NM_003126.4):c.2874G>A (p.L958=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158656588C>T" "" "benign" "" "0000311533" "0" "10" "1" "158618455" "158618455" "subst" "0.259484" "02325" "SPTA1_000063" "g.158618455G>A" "" "" "" "SPTA1(NM_003126.3):c.3570-12C>T, SPTA1(NM_003126.4):c.3570-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158648665G>A" "" "benign" "" "0000311534" "0" "10" "1" "158614198" "158614198" "subst" "0.292313" "02325" "SPTA1_000056" "g.158614198C>T" "" "" "" "SPTA1(NM_003126.3):c.4195-12G>A, SPTA1(NM_003126.4):c.4195-12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158644408C>T" "" "benign" "" "0000311535" "0" "10" "1" "158607935" "158607935" "subst" "0.279812" "02325" "SPTA1_000048" "g.158607935T>G" "" "" "" "SPTA1(NM_003126.3):c.5077A>C (p.K1693Q), SPTA1(NM_003126.4):c.5077A>C (p.K1693Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158638145T>G" "" "benign" "" "0000311536" "0" "10" "1" "158606449" "158606449" "subst" "0.292699" "02325" "SPTA1_000042" "g.158606449G>T" "" "" "" "SPTA1(NM_003126.3):c.5292C>A (p.A1764=), SPTA1(NM_003126.4):c.5292C>A (p.A1764=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158636659G>T" "" "benign" "" "0000311537" "0" "10" "1" "158597507" "158597507" "subst" "0.254952" "02325" "SPTA1_000037" "g.158597507G>C" "" "" "" "SPTA1(NM_003126.3):c.5572C>G (p.L1858V), SPTA1(NM_003126.4):c.5572C>G (p.L1858V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158627717G>C" "" "benign" "" "0000311538" "0" "10" "1" "158592935" "158592935" "subst" "0.290564" "02325" "SPTA1_000028" "g.158592935G>A" "" "" "" "SPTA1(NM_003126.3):c.5958C>T (p.P1986=), SPTA1(NM_003126.4):c.5958C>T (p.P1986=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158623145G>A" "" "benign" "" "0000311540" "0" "10" "1" "158587390" "158587390" "subst" "0.537823" "02325" "SPTA1_000018" "g.158587390C>T" "" "" "" "SPTA1(NM_003126.3):c.6549-12G>A, SPTA1(NM_003126.4):c.6549-12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158617600C>T" "" "benign" "" "0000311541" "0" "10" "1" "158584114" "158584115" "dup" "0" "02325" "SPTA1_000013" "g.158584114_158584115dup" "" "" "" "SPTA1(NM_003126.3):c.6789-9_6789-8dupTT, SPTA1(NM_003126.4):c.6789-9_6789-8dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158614324_158614325dup" "" "benign" "" "0000311542" "0" "10" "1" "158582646" "158582646" "subst" "0.54178" "02325" "SPTA1_000006" "g.158582646T>C" "" "" "" "SPTA1(NM_003126.3):c.7095A>G (p.A2365=), SPTA1(NM_003126.4):c.7095A>G (p.A2365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158612856T>C" "" "benign" "" "0000311543" "0" "10" "1" "158647631" "158647631" "subst" "0.986804" "02325" "SPTA1_000116" "g.158647631T>A" "" "" "" "SPTA1(NM_003126.3):c.813-7A>T, SPTA1(NM_003126.4):c.813-7A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158677841T>A" "" "benign" "" "0000313888" "0" "10" "1" "158656369" "158656369" "subst" "0" "02326" "SPTA1_000142" "g.158656369T>G" "" "" "" "SPTA1(NM_003126.3):c.-62A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158686579T>G" "" "benign" "" "0000313889" "0" "10" "1" "158580887" "158580887" "subst" "0" "02326" "SPTA1_000002" "g.158580887T>C" "" "" "" "SPTA1(NM_003126.3):c.*167A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158611097T>C" "" "benign" "" "0000313890" "0" "90" "1" "158655062" "158655062" "subst" "4.10897E-6" "02326" "SPTA1_000131" "g.158655062G>A" "" "" "" "SPTA1(NM_003126.3):c.100C>T (p.R34W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158685272G>A" "" "pathogenic" "" "0000313891" "0" "90" "1" "158655061" "158655061" "subst" "0" "02326" "SPTA1_000130" "g.158655061C>G" "" "" "" "SPTA1(NM_003126.3):c.101G>C (p.R34P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158685271C>G" "" "pathogenic" "" "0000313892" "0" "10" "1" "158644294" "158644294" "subst" "0.0238297" "02326" "SPTA1_000110" "g.158644294G>T" "" "" "" "SPTA1(NM_003126.3):c.1248+36C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158674504G>T" "" "benign" "" "0000313893" "0" "10" "1" "158655036" "158655036" "subst" "0.993045" "02326" "SPTA1_000129" "g.158655036G>A" "" "" "" "SPTA1(NM_003126.3):c.126C>T (p.V42=), SPTA1(NM_003126.4):c.126C>T (p.V42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158685246G>A" "" "benign" "" "0000313894" "0" "10" "1" "158644105" "158644105" "subst" "0.402817" "02326" "SPTA1_000109" "g.158644105T>A" "" "" "" "SPTA1(NM_003126.3):c.1350+14A>T, SPTA1(NM_003126.4):c.1350+14A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158674315T>A" "" "benign" "" "0000313895" "0" "10" "1" "158641441" "158641441" "subst" "0" "02326" "SPTA1_000107" "g.158641441T>C" "" "" "" "SPTA1(NM_003126.3):c.1489-198A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158671651T>C" "" "benign" "" "0000313896" "0" "10" "1" "158641284" "158641284" "subst" "0.00440144" "02326" "SPTA1_000106" "g.158641284G>T" "" "" "" "SPTA1(NM_003126.3):c.1489-41C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158671494G>T" "" "benign" "" "0000313897" "0" "10" "1" "158639439" "158639439" "subst" "0" "02326" "SPTA1_000104" "g.158639439C>A" "" "" "" "SPTA1(NM_003126.3):c.1677+60G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158669649C>A" "" "benign" "" "0000313898" "0" "30" "1" "158639328" "158639328" "subst" "0.00110562" "02326" "SPTA1_000103" "g.158639328C>T" "" "" "" "SPTA1(NM_003126.3):c.1703G>A (p.R568H), SPTA1(NM_003126.4):c.1703G>A (p.R568H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158669538C>T" "" "likely benign" "" "0000313899" "0" "10" "1" "158639106" "158639106" "subst" "0" "02326" "SPTA1_000102" "g.158639106G>A" "" "" "" "SPTA1(NM_003126.3):c.1833+92C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158669316G>A" "" "benign" "" "0000313900" "0" "10" "1" "158637879" "158637881" "del" "0" "02326" "SPTA1_000094" "g.158637879_158637881del" "" "" "" "SPTA1(NM_003126.3):c.1834-16_1834-14delTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158668089_158668091del" "" "benign" "" "0000313903" "0" "10" "1" "158637881" "158637881" "dup" "0" "02326" "SPTA1_000095" "g.158637881dup" "" "" "" "SPTA1(NM_003126.3):c.1834-14dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158668091dup" "" "benign" "" "0000313904" "0" "10" "1" "158637880" "158637881" "del" "0" "02326" "SPTA1_000099" "g.158637880_158637881del" "" "" "" "SPTA1(NM_003126.3):c.1834-15_1834-14delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158668090_158668091del" "" "benign" "" "0000313906" "0" "10" "1" "158637728" "158637728" "subst" "0.00816514" "02326" "SPTA1_000093" "g.158637728T>C" "" "" "" "SPTA1(NM_003126.2):c.1958A>G (p.(Tyr653Cys)), SPTA1(NM_003126.3):c.1958A>G (p.Y653C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158667938T>C" "" "benign" "" "0000313907" "0" "10" "1" "158636224" "158636224" "subst" "0.0200657" "02326" "SPTA1_000091" "g.158636224C>T" "" "" "" "SPTA1(NM_003126.3):c.2102G>A (p.R701H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158666434C>T" "" "benign" "" "0000313908" "0" "10" "1" "158632759" "158632759" "subst" "0.00447308" "02326" "SPTA1_000089" "g.158632759C>T" "" "" "" "SPTA1(NM_003126.3):c.2221-24G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158662969C>T" "" "benign" "" "0000313909" "0" "10" "1" "158632603" "158632603" "subst" "0.00358899" "02326" "SPTA1_000087" "g.158632603G>T" "" "" "" "SPTA1(NM_003126.3):c.2353C>A (p.R785=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158662813G>T" "" "benign" "" "0000313910" "0" "90" "1" "158632603" "158632603" "subst" "4.06455E-6" "02326" "SPTA1_000088" "g.158632603G>A" "" "" "" "SPTA1(NM_003126.3):c.2353C>T (p.R785*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158662813G>A" "" "pathogenic" "" "0000313911" "0" "90" "1" "158632583" "158632583" "subst" "0.00362071" "02326" "SPTA1_000086" "g.158632583G>T" "" "" "" "SPTA1(NM_003126.3):c.2373C>A (p.D791E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158662793G>T" "" "pathogenic" "" "0000313912" "0" "10" "1" "158656152" "158656157" "del" "0" "02326" "SPTA1_000137" "g.158656152_158656157del" "" "" "" "SPTA1(NM_003126.3):c.24+132_24+137delCTTTTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158686362_158686367del" "" "benign" "" "0000313913" "0" "10" "1" "158656281" "158656281" "subst" "0.993099" "02326" "SPTA1_000138" "g.158656281T>C" "" "" "" "SPTA1(NM_003126.3):c.24+3A>G, SPTA1(NM_003126.4):c.24+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158686491T>C" "" "benign" "" "0000313914" "0" "10" "1" "158632538" "158632538" "subst" "0.0052209" "02326" "SPTA1_000085" "g.158632538C>T" "" "" "" "SPTA1(NM_003126.3):c.2418G>A (p.E806=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158662748C>T" "" "benign" "" "0000313915" "0" "10" "1" "158631257" "158631257" "subst" "0" "02326" "SPTA1_000084" "g.158631257C>T" "" "" "" "SPTA1(NM_003126.3):c.2465-58G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158661467C>T" "" "benign" "" "0000313916" "0" "10" "1" "158655315" "158655315" "subst" "0" "02326" "SPTA1_000136" "g.158655315T>A" "" "" "" "SPTA1(NM_003126.3):c.25-178A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158685525T>A" "" "benign" "" "0000313917" "0" "10" "1" "158655162" "158655162" "subst" "0.992984" "02326" "SPTA1_000135" "g.158655162C>A" "" "" "" "SPTA1(NM_003126.3):c.25-25G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158685372C>A" "" "benign" "" "0000313918" "0" "30" "1" "158631144" "158631144" "subst" "0.00303575" "02326" "SPTA1_000082" "g.158631144C>G" "" "" "" "SPTA1(NM_003126.3):c.2520G>C (p.E840D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158661354C>G" "" "likely benign" "" "0000313919" "0" "30" "1" "158627488" "158627488" "subst" "0" "02326" "SPTA1_000080" "g.158627488T>C" "" "" "" "SPTA1(NM_003126.3):c.2588-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158657698T>C" "" "likely benign" "" "0000313920" "0" "10" "1" "158654786" "158654786" "subst" "0" "02326" "SPTA1_000127" "g.158654786C>T" "" "" "" "SPTA1(NM_003126.3):c.264+112G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158684996C>T" "" "benign" "" "0000313921" "0" "10" "1" "158654658" "158654658" "subst" "0" "02326" "SPTA1_000126" "g.158654658T>C" "" "" "" "SPTA1(NM_003126.3):c.264+240A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158684868T>C" "" "benign" "" "0000313922" "0" "10" "1" "158653310" "158653310" "subst" "0.000187853" "02326" "SPTA1_000125" "g.158653310T>G" "" "" "" "SPTA1(NM_003126.3):c.265-24A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158683520T>G" "" "benign" "" "0000313923" "0" "90" "1" "158627317" "158627317" "subst" "0" "02326" "SPTA1_000078" "g.158627317C>A" "" "" "" "SPTA1(NM_003126.3):c.2755G>T (p.E919*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158657527C>A" "" "pathogenic" "" "0000313924" "0" "10" "1" "158626378" "158626378" "subst" "0.306697" "02326" "SPTA1_000075" "g.158626378C>T" "" "" "" "SPTA1(NM_003126.3):c.2874G>A (p.L958=), SPTA1(NM_003126.4):c.2874G>A (p.L958=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158656588C>T" "" "benign" "" "0000313925" "0" "10" "1" "158626301" "158626301" "subst" "0" "02326" "SPTA1_000074" "g.158626301C>A" "" "" "" "SPTA1(NM_003126.3):c.2898+53G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158656511C>A" "" "benign" "" "0000313926" "0" "10" "1" "158624641" "158624641" "subst" "0" "02326" "SPTA1_000073" "g.158624641C>T" "" "" "" "SPTA1(NM_003126.3):c.2899-103G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158654851C>T" "" "benign" "" "0000313927" "0" "10" "1" "158624570" "158624570" "subst" "0.00818935" "02326" "SPTA1_000072" "g.158624570C>T" "" "" "" "SPTA1(NM_003126.3):c.2899-32G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158654780C>T" "" "benign" "" "0000313928" "0" "10" "1" "158624528" "158624528" "subst" "0.0330656" "02326" "SPTA1_000071" "g.158624528G>T" "" "" "" "SPTA1(NM_003126.3):c.2909C>A (p.A970D), SPTA1(NM_003126.4):c.2909C>A (p.A970D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158654738G>T" "" "benign" "" "0000313929" "0" "10" "1" "158624455" "158624455" "subst" "0" "02326" "SPTA1_000070" "g.158624455T>C" "" "" "" "SPTA1(NM_003126.3):c.2982A>G (p.R994=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158654665T>C" "" "benign" "" "0000313930" "0" "10" "1" "158623081" "158623081" "subst" "0.00301467" "02326" "SPTA1_000069" "g.158623081C>T" "" "" "" "SPTA1(NM_003126.3):c.3171G>A (p.Q1057=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158653291C>T" "" "benign" "" "0000313931" "0" "50" "1" "158622275" "158622275" "subst" "0.000654972" "02326" "SPTA1_000068" "g.158622275C>G" "" "" "" "SPTA1(NM_003126.3):c.3357G>C (p.K1119N), SPTA1(NM_003126.4):c.3357G>C (p.(Lys1119Asn), p.K1119N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158652485C>G" "" "VUS" "" "0000313932" "0" "10" "1" "158618455" "158618455" "subst" "0.259484" "02326" "SPTA1_000063" "g.158618455G>A" "" "" "" "SPTA1(NM_003126.3):c.3570-12C>T, SPTA1(NM_003126.4):c.3570-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158648665G>A" "" "benign" "" "0000313933" "0" "10" "1" "158618223" "158618223" "subst" "0" "02326" "SPTA1_000062" "g.158618223C>T" "" "" "" "SPTA1(NM_003126.3):c.3714+76G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158648433C>T" "" "benign" "" "0000313934" "0" "10" "1" "158617185" "158617185" "subst" "0" "02326" "SPTA1_000059" "g.158617185C>A" "" "" "" "SPTA1(NM_003126.3):c.3896+144G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158647395C>A" "" "benign" "" "0000313935" "0" "10" "1" "158617290" "158617290" "subst" "8.55202E-5" "02326" "SPTA1_000060" "g.158617290C>T" "" "" "" "SPTA1(NM_003126.3):c.3896+39G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158647500C>T" "" "benign" "" "0000313936" "0" "10" "1" "158615217" "158615217" "subst" "0.0291925" "02326" "SPTA1_000058" "g.158615217T>C" "" "" "" "SPTA1(NM_003126.3):c.3997-42A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158645427T>C" "" "benign" "" "0000313937" "0" "10" "1" "158614198" "158614198" "subst" "0.292313" "02326" "SPTA1_000056" "g.158614198C>T" "" "" "" "SPTA1(NM_003126.3):c.4195-12G>A, SPTA1(NM_003126.4):c.4195-12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158644408C>T" "" "benign" "" "0000313938" "0" "90" "1" "158613314" "158613314" "subst" "0" "02326" "SPTA1_000055" "g.158613314G>A" "" "" "" "SPTA1(NM_003126.3):c.4339-99C>T, SPTA1(NM_003126.4):c.4339-99C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158643524G>A" "" "pathogenic" "" "0000313939" "0" "50" "1" "158613207" "158613207" "subst" "0.0001018" "02326" "SPTA1_000054" "g.158613207C>A" "" "" "" "SPTA1(NM_003126.3):c.4347G>T (p.K1449N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158643417C>A" "" "VUS" "" "0000313940" "0" "30" "1" "158612756" "158612756" "subst" "0.0197691" "02326" "SPTA1_000053" "g.158612756G>A" "" "" "" "SPTA1(NM_003126.3):c.4453C>T (p.L1485F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158642966G>A" "" "likely benign" "" "0000313941" "0" "10" "1" "158609300" "158609300" "subst" "0" "02326" "SPTA1_000050" "g.158609300C>G" "" "" "" "SPTA1(NM_003126.3):c.4980+72G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158639510C>G" "" "benign" "" "0000313942" "0" "10" "1" "158608178" "158608178" "subst" "0" "02326" "SPTA1_000049" "g.158608178G>A" "" "" "" "SPTA1(NM_003126.3):c.4981-147C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158638388G>A" "" "benign" "" "0000313943" "0" "10" "1" "158607935" "158607935" "subst" "0.279812" "02326" "SPTA1_000048" "g.158607935T>G" "" "" "" "SPTA1(NM_003126.3):c.5077A>C (p.K1693Q), SPTA1(NM_003126.4):c.5077A>C (p.K1693Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158638145T>G" "" "benign" "" "0000313944" "0" "30" "1" "158607931" "158607931" "subst" "0.000179055" "02326" "SPTA1_000047" "g.158607931C>T" "" "" "" "SPTA1(NM_003126.3):c.5081G>A (p.R1694H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158638141C>T" "" "likely benign" "" "0000313945" "0" "50" "1" "158607888" "158607888" "subst" "0" "02326" "SPTA1_000045" "g.158607888T>A" "" "" "" "SPTA1(NM_003126.3):c.5124A>T (p.K1708N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158638098T>A" "" "VUS" "" "0000313946" "0" "10" "1" "158607788" "158607788" "subst" "0.999795" "02326" "SPTA1_000043" "g.158607788T>G" "" "" "" "SPTA1(NM_003126.3):c.5189+35A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158637998T>G" "" "benign" "" "0000313947" "0" "10" "1" "158606449" "158606449" "subst" "0.292699" "02326" "SPTA1_000042" "g.158606449G>T" "" "" "" "SPTA1(NM_003126.3):c.5292C>A (p.A1764=), SPTA1(NM_003126.4):c.5292C>A (p.A1764=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158636659G>T" "" "benign" "" "0000313948" "0" "10" "1" "158605747" "158605747" "subst" "0.00575969" "02326" "SPTA1_000041" "g.158605747C>T" "" "" "" "SPTA1(NM_003126.3):c.5388G>A (p.Q1796=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158635957C>T" "" "benign" "" "0000313949" "0" "10" "1" "158604391" "158604391" "subst" "0.0292566" "02326" "SPTA1_000040" "g.158604391T>C" "" "" "" "SPTA1(NM_003126.3):c.5507A>G (p.N1836S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158634601T>C" "" "benign" "" "0000313950" "0" "10" "1" "158604143" "158604143" "subst" "0" "02326" "SPTA1_000039" "g.158604143G>A" "" "" "" "SPTA1(NM_003126.3):c.5565+190C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158634353G>A" "" "benign" "" "0000313951" "0" "10" "1" "158597742" "158597742" "subst" "0" "02326" "SPTA1_000038" "g.158597742T>C" "" "" "" "SPTA1(NM_003126.3):c.5566-229A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158627952T>C" "" "benign" "" "0000313952" "0" "10" "1" "158597507" "158597507" "subst" "0.254952" "02326" "SPTA1_000037" "g.158597507G>C" "" "" "" "SPTA1(NM_003126.3):c.5572C>G (p.L1858V), SPTA1(NM_003126.4):c.5572C>G (p.L1858V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158627717G>C" "" "benign" "" "0000313953" "0" "10" "1" "158597296" "158597296" "subst" "0" "02326" "SPTA1_000035" "g.158597296G>C" "" "" "" "SPTA1(NM_003126.3):c.5664+119C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158627506G>C" "" "benign" "" "0000313954" "0" "90" "1" "158596671" "158596671" "subst" "0" "02326" "SPTA1_000033" "g.158596671G>A" "" "" "" "SPTA1(NM_003126.3):c.5791C>T (p.Q1931*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158626881G>A" "" "pathogenic" "" "0000313955" "0" "10" "1" "158596438" "158596438" "subst" "0" "02326" "SPTA1_000031" "g.158596438G>T" "" "" "" "SPTA1(NM_003126.3):c.5833+191C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158626648G>T" "" "benign" "" "0000313956" "0" "10" "1" "158595824" "158595824" "subst" "0" "02326" "SPTA1_000029" "g.158595824T>C" "" "" "" "SPTA1(NM_003126.3):c.5910+112A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158626034T>C" "" "benign" "" "0000313957" "0" "10" "1" "158595842" "158595842" "subst" "0" "02326" "SPTA1_000030" "g.158595842C>A" "" "" "" "SPTA1(NM_003126.3):c.5910+94G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158626052C>A" "" "benign" "" "0000313958" "0" "10" "1" "158592935" "158592935" "subst" "0.290564" "02326" "SPTA1_000028" "g.158592935G>A" "" "" "" "SPTA1(NM_003126.3):c.5958C>T (p.P1986=), SPTA1(NM_003126.4):c.5958C>T (p.P1986=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158623145G>A" "" "benign" "" "0000313959" "0" "10" "1" "158592901" "158592901" "subst" "0.0292798" "02326" "SPTA1_000027" "g.158592901C>G" "" "" "" "SPTA1(NM_003126.3):c.5992G>C (p.A1998P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158623111C>G" "" "benign" "" "0000313960" "0" "10" "1" "158592847" "158592847" "subst" "0.0296139" "02326" "SPTA1_000026" "g.158592847G>A" "" "" "" "SPTA1(NM_003126.3):c.6046C>T (p.R2016C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158623057G>A" "" "benign" "" "0000313961" "0" "10" "1" "158592781" "158592781" "subst" "0.0292428" "02326" "SPTA1_000025" "g.158592781G>A" "" "" "" "SPTA1(NM_003126.3):c.6112C>T (p.L2038=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158622991G>A" "" "benign" "" "0000313962" "0" "10" "1" "158589105" "158589105" "subst" "0.00837415" "02326" "SPTA1_000024" "g.158589105T>C" "" "" "" "SPTA1(NM_003126.3):c.6437A>G (p.Q2146R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158619315T>C" "" "benign" "" "0000313963" "0" "10" "1" "158588916" "158588916" "subst" "0" "02326" "SPTA1_000023" "g.158588916C>G" "" "" "" "SPTA1(NM_003126.3):c.6530+96G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158619126C>G" "" "benign" "" "0000313965" "0" "10" "1" "158587784" "158587784" "subst" "0.999833" "02326" "SPTA1_000021" "g.158587784T>G" "" "" "" "SPTA1(NM_003126.3):c.6548+45A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158617994T>G" "" "benign" "" "0000313966" "0" "10" "1" "158587772" "158587772" "subst" "0" "02326" "SPTA1_000020" "g.158587772C>T" "" "" "" "SPTA1(NM_003126.3):c.6548+57G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158617982C>T" "" "benign" "" "0000313967" "0" "10" "1" "158587390" "158587390" "subst" "0.537823" "02326" "SPTA1_000018" "g.158587390C>T" "" "" "" "SPTA1(NM_003126.3):c.6549-12G>A, SPTA1(NM_003126.4):c.6549-12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158617600C>T" "" "benign" "" "0000313968" "0" "10" "1" "158587400" "158587400" "subst" "0.0332787" "02326" "SPTA1_000019" "g.158587400T>G" "" "" "" "SPTA1(NM_003126.3):c.6549-22A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158617610T>G" "" "benign" "" "0000313969" "0" "10" "1" "158585230" "158585230" "subst" "0.2775" "02326" "SPTA1_000017" "g.158585230C>T" "" "" "" "SPTA1(NM_003126.3):c.6601-37G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158615440C>T" "" "benign" "" "0000313970" "0" "90" "1" "158585025" "158585025" "subst" "0" "02326" "SPTA1_000015" "g.158585025C>A" "" "" "" "SPTA1(NM_003126.3):c.6769G>T (p.E2257*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158615235C>A" "" "pathogenic" "" "0000313971" "0" "90" "1" "158585005" "158585005" "subst" "0" "02326" "SPTA1_000014" "g.158585005C>T" "" "" "" "SPTA1(NM_003126.3):c.6788+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158615215C>T" "" "pathogenic" "" "0000313973" "0" "90" "1" "158650373" "158650373" "subst" "0" "02326" "SPTA1_000124" "g.158650373C>T" "" "" "" "SPTA1(NM_003126.3):c.678G>A (p.E226=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158680583C>T" "" "pathogenic" "" "0000313974" "0" "10" "1" "158648490" "158648490" "subst" "0" "02326" "SPTA1_000123" "g.158648490T>C" "" "" "" "SPTA1(NM_003126.3):c.679-166A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158678700T>C" "" "benign" "" "0000313975" "0" "90" "1" "158583659" "158583659" "subst" "0" "02326" "SPTA1_000010" "g.158583659T>C" "" "" "" "SPTA1(NM_003126.3):c.6843-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158613869T>C" "" "pathogenic" "" "0000313976" "0" "10" "1" "158582838" "158582838" "subst" "0" "02326" "SPTA1_000007" "g.158582838G>C" "" "" "" "SPTA1(NM_003126.3):c.6990-87C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158613048G>C" "" "benign" "" "0000313977" "0" "10" "1" "158582646" "158582646" "subst" "0.54178" "02326" "SPTA1_000006" "g.158582646T>C" "" "" "" "SPTA1(NM_003126.3):c.7095A>G (p.A2365=), SPTA1(NM_003126.4):c.7095A>G (p.A2365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158612856T>C" "" "benign" "" "0000313978" "0" "10" "1" "158582426" "158582426" "subst" "0" "02326" "SPTA1_000003" "g.158582426G>A" "" "" "" "SPTA1(NM_003126.3):c.7134+181C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158612636G>A" "" "benign" "" "0000313979" "0" "10" "1" "158582552" "158582552" "subst" "0" "02326" "SPTA1_000005" "g.158582552G>A" "" "" "" "SPTA1(NM_003126.3):c.7134+55C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158612762G>A" "" "benign" "" "0000313980" "0" "10" "1" "158582543" "158582543" "subst" "0" "02326" "SPTA1_000004" "g.158582543G>A" "" "" "" "SPTA1(NM_003126.3):c.7134+64C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158612753G>A" "" "benign" "" "0000313981" "0" "10" "1" "158648205" "158648205" "subst" "0.00369487" "02326" "SPTA1_000121" "g.158648205T>C" "" "" "" "SPTA1(NM_003126.3):c.798A>G (p.L266=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158678415T>C" "" "benign" "" "0000313982" "0" "10" "1" "158648008" "158648008" "subst" "0" "02326" "SPTA1_000119" "g.158648008C>A" "" "" "" "SPTA1(NM_003126.3):c.812+183G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158678218C>A" "" "benign" "" "0000313983" "0" "10" "1" "158647669" "158647669" "subst" "0.55019" "02326" "SPTA1_000117" "g.158647669T>C" "" "" "" "SPTA1(NM_003126.3):c.813-45A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158677879T>C" "" "benign" "" "0000313984" "0" "10" "1" "158647631" "158647631" "subst" "0.986804" "02326" "SPTA1_000116" "g.158647631T>A" "" "" "" "SPTA1(NM_003126.3):c.813-7A>T, SPTA1(NM_003126.4):c.813-7A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158677841T>A" "" "benign" "" "0000313985" "0" "90" "1" "158655080" "158655080" "subst" "0" "02326" "SPTA1_000133" "g.158655080G>T" "" "" "" "SPTA1(NM_003126.3):c.82C>A (p.R28S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158685290G>T" "" "pathogenic" "" "0000313986" "0" "90" "1" "158655080" "158655080" "subst" "0" "02326" "SPTA1_000134" "g.158655080G>C" "" "" "" "SPTA1(NM_003126.3):c.82C>G (p.R28G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158685290G>C" "" "pathogenic" "" "0000313987" "0" "90" "1" "158655079" "158655079" "subst" "8.21753E-6" "02326" "SPTA1_000132" "g.158655079C>T" "" "" "" "SPTA1(NM_003126.3):c.83G>A (p.R28H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158685289C>T" "" "pathogenic" "" "0000313988" "0" "50" "1" "158647520" "158647520" "subst" "0" "02326" "SPTA1_000115" "g.158647520T>G" "" "" "" "SPTA1(NM_003126.3):c.917A>C (p.H306P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158677730T>G" "" "VUS" "" "0000313989" "0" "10" "1" "158646223" "158646223" "subst" "0" "02326" "SPTA1_000112" "g.158646223T>C" "" "" "" "SPTA1(NM_003126.3):c.958-138A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158676433T>C" "" "benign" "" "0000315636" "0" "30" "1" "158641990" "158641990" "subst" "0.000342751" "01943" "SPTA1_000108" "g.158641990T>C" "" "" "" "SPTA1(NM_003126.3):c.1351-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158672200T>C" "" "likely benign" "" "0000315637" "0" "50" "1" "158631122" "158631122" "subst" "7.72176E-5" "01943" "SPTA1_000081" "g.158631122G>A" "" "" "" "SPTA1(NM_003126.3):c.2542C>T (p.R848C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158661332G>A" "" "VUS" "" "0000315638" "0" "50" "1" "158627472" "158627472" "subst" "0.000915021" "01943" "SPTA1_000079" "g.158627472G>T" "" "" "" "SPTA1(NM_003126.3):c.2600C>A (p.A867E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158657682G>T" "" "VUS" "" "0000315639" "0" "50" "1" "158619725" "158619725" "subst" "2.0463E-5" "01943" "SPTA1_000065" "g.158619725G>A" "" "" "" "SPTA1(NM_003126.3):c.3490C>T (p.R1164C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158649935G>A" "" "VUS" "" "0000315640" "0" "30" "1" "158617487" "158617487" "subst" "4.07568E-6" "01943" "SPTA1_000061" "g.158617487T>C" "" "" "" "SPTA1(NM_003126.3):c.3738A>G (p.A1246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158647697T>C" "" "likely benign" "" "0000315641" "0" "50" "1" "158615013" "158615013" "subst" "7.31886E-5" "01943" "SPTA1_000057" "g.158615013G>A" "" "" "" "SPTA1(NM_003126.3):c.4159C>T (p.R1387C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158645223G>A" "" "VUS" "" "0000315642" "0" "30" "1" "158607894" "158607894" "subst" "0.00138717" "01943" "SPTA1_000046" "g.158607894G>A" "" "" "" "SPTA1(NM_003126.3):c.5118C>T (p.H1706=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158638104G>A" "" "likely benign" "" "0000315643" "0" "50" "1" "158607867" "158607867" "subst" "3.66127E-5" "01943" "SPTA1_000044" "g.158607867C>A" "" "" "" "SPTA1(NM_003126.3):c.5145G>T (p.L1715F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158638077C>A" "" "VUS" "" "0000315644" "0" "30" "1" "158585162" "158585162" "subst" "7.71737E-5" "01943" "SPTA1_000016" "g.158585162C>T" "" "" "" "SPTA1(NM_003126.3):c.6632G>A (p.R2211H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158615372C>T" "" "likely benign" "" "0000315645" "0" "50" "1" "158583649" "158583649" "subst" "5.30106E-5" "01943" "SPTA1_000009" "g.158583649T>C" "" "" "" "SPTA1(NM_003126.3):c.6851A>G (p.D2284G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158613859T>C" "" "VUS" "" "0000321060" "0" "50" "1" "158576782" "158576782" "subst" "4.06739E-6" "01804" "OR10Z1_000001" "g.158576782T>C" "" "" "" "OR10Z1(NM_001004478.1):c.554T>C (p.(Leu185Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158606992T>C" "" "VUS" "" "0000321062" "0" "50" "1" "158583632" "158583632" "subst" "4.07329E-6" "01804" "SPTA1_000008" "g.158583632G>T" "" "" "" "SPTA1(NM_003126.2):c.6868C>A (p.(Arg2290Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158613842G>T" "" "VUS" "" "0000503865" "0" "30" "1" "158584105" "158584105" "subst" "0" "02326" "SPTA1_000148" "g.158584105A>G" "" "" "" "SPTA1(NM_003126.3):c.6789-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158614315A>G" "" "likely benign" "" "0000503866" "0" "10" "1" "158584114" "158584115" "dup" "0" "02326" "SPTA1_000013" "g.158584114_158584115dup" "" "" "" "SPTA1(NM_003126.3):c.6789-9_6789-8dupTT, SPTA1(NM_003126.4):c.6789-9_6789-8dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158614324_158614325dup" "" "benign" "" "0000503867" "0" "10" "1" "158585355" "158585355" "subst" "0" "02326" "SPTA1_000149" "g.158585355T>C" "" "" "" "SPTA1(NM_003126.3):c.6601-162A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158615565T>C" "" "benign" "" "0000503869" "0" "10" "1" "158592716" "158592716" "subst" "0" "02326" "SPTA1_000150" "g.158592716T>G" "" "" "" "SPTA1(NM_003126.3):c.6120+57A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158622926T>G" "" "benign" "" "0000503873" "0" "10" "1" "158596027" "158596027" "subst" "0.0056722" "02326" "SPTA1_000152" "g.158596027C>T" "" "" "" "SPTA1(NM_003126.3):c.5834-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158626237C>T" "" "benign" "" "0000503874" "0" "30" "1" "158605757" "158605757" "subst" "0.00153211" "01943" "SPTA1_000153" "g.158605757C>T" "" "" "" "SPTA1(NM_003126.3):c.5378G>A (p.R1793Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158635967C>T" "" "likely benign" "" "0000503875" "0" "50" "1" "158609712" "158609712" "subst" "6.10386E-5" "01943" "SPTA1_000154" "g.158609712C>T" "" "" "" "SPTA1(NM_003126.3):c.4823G>A (p.R1608H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158639922C>T" "" "VUS" "" "0000503876" "0" "10" "1" "158612548" "158612548" "subst" "0" "02326" "SPTA1_000155" "g.158612548T>A" "" "" "" "SPTA1(NM_003126.3):c.4605+56A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158642758T>A" "" "benign" "" "0000503878" "0" "30" "1" "158613146" "158613146" "subst" "0.000109769" "01804" "SPTA1_000156" "g.158613146C>T" "" "" "" "SPTA1(NM_003126.2):c.4408G>A (p.(Glu1470Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158643356C>T" "" "likely benign" "" "0000503879" "0" "50" "1" "158614141" "158614141" "subst" "0.000260296" "01943" "SPTA1_000157" "g.158614141G>A" "" "" "" "SPTA1(NM_003126.3):c.4240C>T (p.R1414C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158644351G>A" "" "VUS" "" "0000503880" "0" "70" "1" "158614141" "158614141" "subst" "0.000260296" "02326" "SPTA1_000157" "g.158614141G>A" "" "" "" "SPTA1(NM_003126.3):c.4240C>T (p.R1414C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158644351G>A" "" "likely pathogenic" "" "0000503881" "0" "30" "1" "158623085" "158623085" "subst" "0.000239717" "01804" "SPTA1_000158" "g.158623085C>A" "" "" "" "SPTA1(NM_003126.2):c.3167G>T (p.(Arg1056Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158653295C>A" "" "likely benign" "" "0000503882" "0" "10" "1" "158623229" "158623229" "subst" "0.00813068" "02326" "SPTA1_000159" "g.158623229A>G" "" "" "" "SPTA1(NM_003126.3):c.3037-14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158653439A>G" "" "benign" "" "0000503883" "0" "30" "1" "158627487" "158627487" "subst" "3.66291E-5" "01943" "SPTA1_000160" "g.158627487A>G" "" "" "" "SPTA1(NM_003126.3):c.2588-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158657697A>G" "" "likely benign" "" "0000503885" "0" "30" "1" "158631171" "158631171" "subst" "4.07103E-6" "01943" "SPTA1_000162" "g.158631171A>G" "" "" "" "SPTA1(NM_003126.3):c.2493T>C (p.L831=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158661381A>G" "" "likely benign" "" "0000503887" "0" "30" "1" "158637704" "158637704" "subst" "0.001703" "01943" "SPTA1_000164" "g.158637704C>T" "" "" "" "SPTA1(NM_003126.3):c.1982G>A (p.R661H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158667914C>T" "" "likely benign" "" "0000503888" "0" "10" "1" "158637704" "158637704" "subst" "0.001703" "02326" "SPTA1_000164" "g.158637704C>T" "" "" "" "SPTA1(NM_003126.3):c.1982G>A (p.R661H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158667914C>T" "" "benign" "" "0000503889" "0" "30" "1" "158637728" "158637728" "subst" "0.00816514" "01804" "SPTA1_000093" "g.158637728T>C" "" "" "" "SPTA1(NM_003126.2):c.1958A>G (p.(Tyr653Cys)), SPTA1(NM_003126.3):c.1958A>G (p.Y653C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158667938T>C" "" "likely benign" "" "0000503890" "0" "90" "1" "158637837" "158637837" "dup" "0" "02326" "SPTA1_000165" "g.158637837dup" "" "" "" "SPTA1(NM_003126.3):c.1850dupA (p.S618Efs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158668047dup" "" "pathogenic" "" "0000503891" "0" "10" "1" "158639586" "158639586" "subst" "0.0030589" "02326" "SPTA1_000166" "g.158639586T>C" "" "" "" "SPTA1(NM_003126.3):c.1600-10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158669796T>C" "" "benign" "" "0000503892" "0" "30" "1" "158645965" "158645965" "subst" "0.00130254" "01943" "SPTA1_000167" "g.158645965T>A" "" "" "" "SPTA1(NM_003126.3):c.1078A>T (p.T360S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158676175T>A" "" "likely benign" "" "0000503893" "0" "10" "1" "158647522" "158647522" "subst" "0.550035" "02325" "SPTA1_000168" "g.158647522A>G" "" "" "" "SPTA1(NM_003126.3):c.915T>C (p.S305=), SPTA1(NM_003126.4):c.915T>C (p.S305=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158677732A>G" "" "benign" "" "0000503894" "0" "10" "1" "158647522" "158647522" "subst" "0.550035" "02326" "SPTA1_000168" "g.158647522A>G" "" "" "" "SPTA1(NM_003126.3):c.915T>C (p.S305=), SPTA1(NM_003126.4):c.915T>C (p.S305=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158677732A>G" "" "benign" "" "0000503896" "0" "10" "1" "158648210" "158648210" "subst" "0.00300722" "02326" "SPTA1_000169" "g.158648210T>C" "" "" "" "SPTA1(NM_003126.3):c.793A>G (p.N265D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158678420T>C" "" "benign" "" "0000503897" "0" "90" "1" "158651396" "158651396" "subst" "0.000195258" "01804" "SPTA1_000170" "g.158651396C>T" "" "" "" "SPTA1(NM_003126.2):c.452G>A (p.(Gly151Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158681606C>T" "" "pathogenic" "" "0000503898" "0" "10" "1" "158654659" "158654659" "subst" "0" "02326" "SPTA1_000171" "g.158654659G>A" "" "" "" "SPTA1(NM_003126.3):c.264+239C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158684869G>A" "" "benign" "" "0000503899" "0" "30" "1" "158655041" "158655041" "subst" "0.000139699" "01943" "SPTA1_000172" "g.158655041G>T" "" "" "" "SPTA1(NM_003126.3):c.121C>A (p.R41=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158685251G>T" "" "likely benign" "" "0000503900" "0" "30" "1" "158655129" "158655129" "subst" "0.00370437" "01943" "SPTA1_000173" "g.158655129C>G" "" "" "" "SPTA1(NM_003126.3):c.33G>C (p.E11D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158685339C>G" "" "likely benign" "" "0000503901" "0" "10" "1" "158656257" "158656257" "subst" "0.0186463" "02326" "SPTA1_000174" "g.158656257T>C" "" "" "" "SPTA1(NM_003126.3):c.24+27A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158686467T>C" "" "benign" "" "0000503902" "0" "10" "1" "158656359" "158656366" "dup" "0" "02326" "SPTA1_000175" "g.158656359_158656366dup" "" "" "" "SPTA1(NM_003126.3):c.-48_-41dupCTCTCTCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158686569_158686576dup" "" "benign" "" "0000503903" "0" "10" "1" "158656363" "158656366" "dup" "0" "02326" "SPTA1_000176" "g.158656363_158656366dup" "" "" "" "SPTA1(NM_003126.3):c.-44_-41dupCTCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158686573_158686576dup" "" "benign" "" "0000503904" "0" "10" "1" "158656365" "158656366" "dup" "0" "02326" "SPTA1_000177" "g.158656365_158656366dup" "" "" "" "SPTA1(NM_003126.3):c.-42_-41dupCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158686575_158686576dup" "" "benign" "" "0000604923" "0" "30" "1" "158592993" "158593002" "del" "0" "01943" "SPTA1_000151" "g.158592993_158593002del" "" "" "" "SPTA1(NM_003126.3):c.5911-17_5911-8delCTCCTGATCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158623203_158623212del" "" "likely benign" "" "0000604924" "0" "30" "1" "158612230" "158612230" "subst" "5.29182E-5" "01943" "SPTA1_000178" "g.158612230C>T" "" "" "" "SPTA1(NM_003126.3):c.4708G>A (p.A1570T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158642440C>T" "" "likely benign" "" "0000620413" "0" "50" "1" "158636233" "158636233" "subst" "0" "01943" "SPTA1_000179" "g.158636233T>A" "" "" "" "SPTA1(NM_003126.3):c.2093A>T (p.D698V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158666443T>A" "" "VUS" "" "0000647405" "1" "50" "1" "158589105" "158589105" "subst" "0.00837415" "03575" "SPTA1_000024" "g.158589105T>C" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 7 heterozygous, no homozygous; {DB:CLININrs138055271}" "Germline" "" "rs138055271" "0" "" "" "g.158619315T>C" "" "VUS" "" "0000647406" "1" "30" "1" "158592847" "158592847" "subst" "0.0296139" "03575" "SPTA1_000026" "g.158592847G>A" "228/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "228 heterozygous; {DB:CLININrs78394850}" "Germline" "" "rs78394850" "0" "" "" "g.158623057G>A" "" "likely benign" "" "0000647407" "1" "30" "1" "158605725" "158605725" "subst" "0.000833286" "03575" "SPTA1_000181" "g.158605725G>A" "9/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "9 heterozygous, no homozygous; {DB:CLININrs116959874}" "Germline" "" "rs116959874" "0" "" "" "g.158635935G>A" "" "likely benign" "" "0000647408" "1" "30" "1" "158612719" "158612719" "subst" "0.0141832" "03575" "SPTA1_000182" "g.158612719C>T" "13/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "13 heterozygous, no homozygous; {DB:CLININrs41273523}" "Germline" "" "rs41273523" "0" "" "" "g.158642929C>T" "" "likely benign" "" "0000647410" "1" "30" "1" "158624528" "158624528" "subst" "0.0330656" "03575" "SPTA1_000071" "g.158624528G>T" "31/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "31 heterozygous, no homozygous; {DB:CLININrs35948326}" "Germline" "" "rs35948326" "0" "" "" "g.158654738G>T" "" "likely benign" "" "0000647411" "1" "50" "1" "158637728" "158637728" "subst" "0.00816514" "03575" "SPTA1_000093" "g.158637728T>C" "13/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 13 heterozygous, no homozygous; {DB:CLININrs148912436}" "Germline" "" "rs148912436" "0" "" "" "g.158667938T>C" "" "VUS" "" "0000652966" "1" "70" "1" "158589121" "158589121" "subst" "0.00197002" "03575" "SPTA1_000180" "g.158589121G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs41273519}" "Germline" "" "rs41273519" "0" "" "" "g.158619331G>A" "" "likely pathogenic" "" "0000653787" "0" "90" "1" "158590091" "158590091" "subst" "0" "01943" "SPTA1_000183" "g.158590091G>A" "" "" "" "SPTA1(NM_003126.3):c.6286C>T (p.Q2096*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158620301G>A" "" "pathogenic" "" "0000668967" "3" "30" "1" "158592847" "158592847" "subst" "0.0296139" "03575" "SPTA1_000026" "g.158592847G>A" "6/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 homozygous; {DB:CLININrs78394850}" "Germline" "" "rs78394850" "0" "" "" "g.158623057G>A" "" "likely benign" "" "0000668968" "3" "50" "1" "158612756" "158612756" "subst" "0.0197691" "03575" "SPTA1_000053" "g.158612756G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 homozygous; {DB:CLININrs34973695}" "Germline" "" "rs34973695" "0" "" "" "g.158642966G>A" "" "VUS" "" "0000675512" "0" "30" "1" "158612266" "158612266" "subst" "0.00013838" "01943" "SPTA1_000184" "g.158612266C>T" "" "" "" "SPTA1(NM_003126.3):c.4672G>A (p.V1558I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675513" "0" "30" "1" "158644417" "158644417" "subst" "2.85283E-5" "01943" "SPTA1_000185" "g.158644417G>A" "" "" "" "SPTA1(NM_003126.3):c.1161C>T (p.N387=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675514" "0" "90" "1" "158655028" "158655028" "subst" "0" "02326" "SPTA1_000186" "g.158655028C>G" "" "" "" "SPTA1(NM_003126.3):c.134G>C (p.R45T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000687907" "0" "30" "1" "158612619" "158612619" "subst" "0.000378427" "01943" "SPTA1_000187" "g.158612619G>A" "" "" "" "SPTA1(NM_003126.3):c.4590C>T (p.D1530=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000687908" "0" "50" "1" "158619724" "158619724" "subst" "0.000343688" "01943" "SPTA1_000188" "g.158619724C>T" "" "" "" "SPTA1(NM_003126.3):c.3491G>A (p.R1164H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000687909" "0" "50" "1" "158653178" "158653178" "subst" "0.00075662" "02325" "SPTA1_000189" "g.158653178C>T" "" "" "" "SPTA1(NM_003126.3):c.373G>A (p.A125T), SPTA1(NM_003126.4):c.373G>A (p.A125T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716919" "0" "50" "1" "158592867" "158592867" "subst" "0.000178757" "01943" "SPTA1_000190" "g.158592867C>T" "" "" "" "SPTA1(NM_003126.3):c.6026G>A (p.R2009H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716920" "0" "30" "1" "158608016" "158608016" "subst" "8.18418E-6" "01943" "SPTA1_000191" "g.158608016G>A" "" "" "" "SPTA1(NM_003126.3):c.4996C>T (p.L1666=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716921" "0" "50" "1" "158623095" "158623095" "subst" "0" "01943" "SPTA1_000192" "g.158623095T>A" "" "" "" "SPTA1(NM_003126.3):c.3157A>T (p.I1053F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000798857" "0" "70" "1" "158583511" "158583511" "subst" "0" "02326" "SPTA1_000193" "g.158583511C>T" "" "" "" "SPTA1(NM_003126.3):c.6989G>A (p.R2330K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000798858" "0" "50" "1" "158590207" "158590207" "subst" "3.65842E-5" "01943" "SPTA1_000194" "g.158590207T>C" "" "" "" "SPTA1(NM_003126.3):c.6170A>G (p.N2057S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000798859" "0" "10" "1" "158612719" "158612719" "subst" "0.0141832" "02326" "SPTA1_000182" "g.158612719C>T" "" "" "" "SPTA1(NM_003126.3):c.4490G>A (p.G1497E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000798860" "0" "30" "1" "158612775" "158612775" "subst" "0.000281396" "01943" "SPTA1_000195" "g.158612775C>T" "" "" "" "SPTA1(NM_003126.3):c.4443-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798861" "0" "90" "1" "158653199" "158653199" "subst" "4.06779E-6" "02326" "SPTA1_000196" "g.158653199G>A" "" "" "" "SPTA1(NM_003126.3):c.352C>T (p.R118*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000798862" "0" "30" "1" "158656285" "158656285" "subst" "2.03351E-5" "01943" "SPTA1_000197" "g.158656285G>A" "" "" "" "SPTA1(NM_003126.3):c.23C>T (p.T8I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000815926" "0" "90" "1" "158596030" "158596030" "subst" "4.06974E-6" "03779" "SPTA1_000198" "g.158596030T>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs1397822810" "0" "" "" "" "" "pathogenic" "" "0000857079" "0" "70" "1" "158587322" "158587322" "subst" "0" "02326" "SPTA1_000199" "g.158587322C>T" "" "" "" "SPTA1(NM_003126.3):c.6600+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000857080" "0" "50" "1" "158589121" "158589121" "subst" "4.0619E-6" "01943" "SPTA1_000200" "g.158589121G>C" "" "" "" "SPTA1(NM_003126.3):c.6421C>G (p.R2141G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857081" "0" "50" "1" "158607963" "158607963" "subst" "6.11078E-5" "01943" "SPTA1_000201" "g.158607963C>A" "" "" "" "SPTA1(NM_003126.3):c.5049G>T (p.Q1683H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857082" "0" "30" "1" "158623056" "158623056" "subst" "0.000333214" "01943" "SPTA1_000202" "g.158623056G>C" "" "" "" "SPTA1(NM_003126.3):c.3188+8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857083" "0" "30" "1" "158623100" "158623100" "subst" "8.12526E-6" "01943" "SPTA1_000203" "g.158623100C>G" "" "" "" "SPTA1(NM_003126.3):c.3152G>C (p.G1051A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857084" "0" "30" "1" "158626390" "158626390" "subst" "8.12678E-6" "01943" "SPTA1_000204" "g.158626390A>G" "" "" "" "SPTA1(NM_003126.3):c.2862T>C (p.S954=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857085" "0" "70" "1" "158632491" "158632491" "subst" "0" "01804" "SPTA1_000205" "g.158632491C>T" "" "" "" "SPTA1(NM_003126.2):c.2464+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000857086" "0" "50" "1" "158639343" "158639343" "subst" "0.00117853" "01943" "SPTA1_000206" "g.158639343C>T" "" "" "" "SPTA1(NM_003126.3):c.1688G>A (p.R563Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857087" "0" "30" "1" "158648329" "158648329" "subst" "8.15428E-6" "01943" "SPTA1_000207" "g.158648329T>G" "" "" "" "SPTA1(NM_003126.3):c.679-5A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000868735" "0" "90" "1" "158614180" "158614180" "subst" "0" "03779" "SPTA1_000208" "g.158614180G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs866240607" "0" "" "" "" "" "pathogenic" "" "0000868868" "0" "50" "1" "158627301" "158627301" "subst" "0" "03779" "SPTA1_000209" "g.158627301T>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000872574" "0" "50" "1" "158641242" "158641242" "subst" "7.7477E-5" "03779" "SPTA1_000210" "g.158641242G>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs199604294" "0" "" "" "" "" "VUS" "" "0000877380" "0" "70" "1" "158648246" "158648246" "subst" "0" "03779" "SPTA1_000211" "g.158648246C>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs1384649105" "0" "" "" "" "" "likely pathogenic" "" "0000882858" "0" "30" "1" "158624528" "158624528" "subst" "0.0330656" "02325" "SPTA1_000071" "g.158624528G>T" "" "" "" "SPTA1(NM_003126.3):c.2909C>A (p.A970D), SPTA1(NM_003126.4):c.2909C>A (p.A970D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882859" "0" "30" "1" "158655129" "158655129" "subst" "0.00370437" "02326" "SPTA1_000173" "g.158655129C>G" "" "" "" "SPTA1(NM_003126.3):c.33G>C (p.E11D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000910817" "0" "30" "1" "158596654" "158596654" "subst" "5.68685E-5" "02325" "SPTA1_000212" "g.158596654C>T" "" "" "" "SPTA1(NM_003126.4):c.5808G>A (p.K1936=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000917024" "0" "30" "1" "158612756" "158612756" "subst" "0.0197691" "03779" "SPTA1_000053" "g.158612756G>A" "" "" "" "" "" "Unknown" "" "rs34973695" "0" "" "" "" "" "likely benign" "" "0000922982" "0" "50" "1" "158622275" "158622275" "subst" "0.000654972" "02325" "SPTA1_000068" "g.158622275C>G" "" "" "" "SPTA1(NM_003126.3):c.3357G>C (p.K1119N), SPTA1(NM_003126.4):c.3357G>C (p.(Lys1119Asn), p.K1119N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928046" "0" "50" "1" "158651421" "158651421" "subst" "2.44101E-5" "02325" "SPTA1_000213" "g.158651421G>T" "" "" "" "SPTA1(NM_003126.4):c.427C>A (p.L143M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000933022" "0" "70" "1" "158648224" "158648224" "subst" "1.22066E-5" "03779" "SPTA1_000122" "g.158648224A>G" "" "" "" "" "" "Unknown" "" "rs121918634" "0" "" "" "" "" "likely pathogenic" "" "0000933818" "0" "90" "1" "158644118" "158644118" "subst" "0" "03779" "SPTA1_000214" "g.158644118C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000951873" "0" "70" "1" "158632500" "158632506" "dup" "0" "03779" "SPTA1_000215" "g.158632500_158632506dup" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000952174" "0" "70" "1" "158653202" "158653202" "subst" "0" "03779" "SPTA1_000216" "g.158653202C>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000952430" "0" "90" "1" "158592889" "158592889" "subst" "0" "03779" "SPTA1_000217" "g.158592889G>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000952431" "0" "70" "1" "158614141" "158614141" "subst" "0.000260296" "03779" "SPTA1_000157" "g.158614141G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs201399968" "0" "" "" "" "" "likely pathogenic" "" "0000960577" "0" "50" "1" "158618417" "158618417" "subst" "0" "02325" "SPTA1_000218" "g.158618417A>G" "" "" "" "SPTA1(NM_003126.4):c.3596T>C (p.I1199T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960578" "0" "30" "1" "158631203" "158631203" "subst" "3.65848E-5" "02326" "SPTA1_000219" "g.158631203C>G" "" "" "" "SPTA1(NM_003126.3):c.2465-4G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960579" "0" "50" "1" "158639328" "158639328" "subst" "0.00110562" "02325" "SPTA1_000103" "g.158639328C>T" "" "" "" "SPTA1(NM_003126.3):c.1703G>A (p.R568H), SPTA1(NM_003126.4):c.1703G>A (p.R568H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960580" "0" "70" "1" "158641851" "158641852" "dup" "0" "02326" "SPTA1_000220" "g.158641851_158641852dup" "" "" "" "SPTA1(NM_003126.3):c.1488_1488+1insAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000960582" "0" "30" "1" "158653178" "158653178" "subst" "0.00075662" "02326" "SPTA1_000189" "g.158653178C>T" "" "" "" "SPTA1(NM_003126.3):c.373G>A (p.A125T), SPTA1(NM_003126.4):c.373G>A (p.A125T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000972023" "0" "50" "1" "158655067" "158655067" "subst" "0" "03779" "SPTA1_000221" "g.158655067A>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000972102" "0" "70" "1" "158653160" "158653160" "subst" "0" "03779" "SPTA1_000222" "g.158653160C>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000973404" "0" "50" "1" "158589075" "158589075" "subst" "0" "01804" "SPTA1_000223" "g.158589075A>C" "" "" "" "SPTA1(NM_003126.4):c.6467T>G (p.(Phe2156Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973405" "0" "90" "1" "158613314" "158613314" "subst" "0" "01804" "SPTA1_000055" "g.158613314G>A" "" "" "" "SPTA1(NM_003126.3):c.4339-99C>T, SPTA1(NM_003126.4):c.4339-99C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000990032" "0" "50" "1" "158639343" "158639343" "subst" "0.00117853" "03779" "SPTA1_000206" "g.158639343C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs202243588" "0" "" "" "" "" "VUS" "" "0001013229" "0" "70" "1" "158615385" "158615385" "subst" "0" "02329" "SPTA1_000224" "g.158615385C>T" "" "" "" "SPTA1(NM_003126.4):c.3897-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001017521" "0" "30" "1" "158641938" "158641938" "subst" "4.06755E-6" "03779" "SPTA1_000225" "g.158641938C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs376169797" "0" "" "" "" "" "likely benign" "" "0001024046" "0" "90" "1" "158613314" "158613314" "subst" "0" "02329" "SPTA1_000055" "g.158613314G>A" "" "" "" "SPTA1(NM_003126.3):c.4339-99C>T, SPTA1(NM_003126.4):c.4339-99C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001024047" "0" "90" "1" "158627296" "158627299" "del" "0" "02329" "SPTA1_000226" "g.158627296_158627299del" "" "" "" "SPTA1(NM_003126.4):c.2777_2780delACTA (p.N926Mfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001024048" "0" "50" "1" "158651382" "158651382" "subst" "0.00013019" "02325" "SPTA1_000227" "g.158651382G>A" "" "" "" "SPTA1(NM_003126.4):c.466C>T (p.R156W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031382" "0" "50" "1" "158632543" "158632543" "subst" "8.12618E-6" "01804" "SPTA1_000228" "g.158632543C>T" "" "" "" "SPTA1(NM_003126.4):c.2413G>A (p.(Glu805Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045604" "0" "30" "1" "158582637" "158582637" "subst" "0.00149712" "02326" "SPTA1_000229" "g.158582637C>A" "" "" "" "SPTA1(NM_003126.3):c.7104G>T (p.K2368N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045605" "0" "10" "1" "158584115" "158584115" "dup" "0" "02326" "SPTA1_000230" "g.158584115dup" "" "" "" "SPTA1(NM_003126.3):c.6789-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001049013" "0" "90" "1" "158650431" "158650431" "subst" "6.0987E-5" "03779" "SPTA1_000231" "g.158650431A>G" "" "" "" "" "" "Unknown" "" "rs121918643" "0" "" "" "" "" "pathogenic" "" "0001050324" "0" "50" "1" "158622275" "158622275" "subst" "0.000654972" "01804" "SPTA1_000068" "g.158622275C>G" "" "" "" "SPTA1(NM_003126.3):c.3357G>C (p.K1119N), SPTA1(NM_003126.4):c.3357G>C (p.(Lys1119Asn), p.K1119N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050325" "0" "50" "1" "158636276" "158636276" "subst" "0" "01804" "SPTA1_000232" "g.158636276G>T" "" "" "" "SPTA1(NM_003126.4):c.2050C>A (p.(His684Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001060405" "0" "90" "1" "158651387" "158651389" "dup" "0" "03779" "SPTA1_000233" "g.158651387_158651389dup" "" "" "" "" "" "Unknown" "" "rs757679761" "0" "" "" "" "" "pathogenic" "" ## 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 SPTA1 ## Count = 267 "{{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}}" "0000236477" "00020250" "70" "4186" "0" "4186" "0" "c.4186G>T" "r.(?)" "p.(Glu1396*)" "" "0000248183" "00020250" "10" "2493" "0" "2493" "0" "c.2493T>G" "r.(?)" "p.(Leu831=)" "" "0000248184" "00020250" "10" "942" "0" "942" "0" "c.942T>A" "r.(?)" "p.(Ala314=)" "" "0000248208" "00020250" "10" "4702" "0" "4702" "0" "c.4702T>C" "r.(?)" "p.(Cys1568Arg)" "" "0000248215" "00020250" "10" "6794" "0" "6794" "0" "c.6794T>C" "r.(?)" "p.(Ile2265Thr)" "" "0000248221" "00020250" "10" "3487" "0" "3487" "0" "c.3487T>G" "r.(?)" "p.(Ser1163Ala)" "" "0000250886" "00020250" "10" "2493" "0" "2493" "0" "c.2493T>G" "r.(?)" "p.(Leu831=)" "" "0000250887" "00020250" "10" "942" "0" "942" "0" "c.942T>A" "r.(?)" "p.(Ala314=)" "" "0000250911" "00020250" "10" "4702" "0" "4702" "0" "c.4702T>C" "r.(?)" "p.(Cys1568Arg)" "" "0000250918" "00020250" "10" "6794" "0" "6794" "0" "c.6794T>C" "r.(?)" "p.(Ile2265Thr)" "" "0000250924" "00020250" "10" "3487" "0" "3487" "0" "c.3487T>G" "r.(?)" "p.(Ser1163Ala)" "" "0000251173" "00020250" "10" "5833" "105" "5833" "105" "c.5833+105T>C" "r.(=)" "p.(=)" "" "0000251174" "00020250" "10" "5665" "-24" "5665" "-24" "c.5665-24T>C" "r.(=)" "p.(=)" "" "0000251175" "00020250" "10" "5664" "106" "5664" "106" "c.5664+106T>C" "r.(=)" "p.(=)" "" "0000251176" "00020250" "10" "4737" "89" "4737" "89" "c.4737+89T>A" "r.(=)" "p.(=)" "" "0000251177" "00020250" "10" "4737" "51" "4737" "51" "c.4737+51T>C" "r.(=)" "p.(=)" "" "0000251178" "00020250" "10" "3570" "-37" "3570" "-37" "c.3570-37T>A" "r.(=)" "p.(=)" "" "0000251179" "00020250" "10" "3478" "-85" "3478" "-85" "c.3478-85T>G" "r.(=)" "p.(=)" "" "0000251180" "00020250" "10" "2806" "-144" "2806" "-144" "c.2806-144T>C" "r.(=)" "p.(=)" "" "0000251181" "00020250" "10" "2221" "-184" "2221" "-184" "c.2221-184T>C" "r.(=)" "p.(=)" "" "0000251182" "00020250" "10" "1834" "-14" "1834" "-14" "c.1834-14del" "r.(=)" "p.(=)" "" "0000251183" "00020250" "10" "1833" "169" "1833" "169" "c.1833+169T>C" "r.(=)" "p.(=)" "" "0000251184" "00020250" "10" "1600" "-25" "1600" "-25" "c.1600-25T>C" "r.(=)" "p.(=)" "" "0000251185" "00020250" "10" "1112" "169" "1112" "169" "c.1112+169T>C" "r.(=)" "p.(=)" "" "0000251186" "00020250" "10" "957" "168" "957" "168" "c.957+168T>C" "r.(=)" "p.(=)" "" "0000251187" "00020250" "10" "813" "-105" "813" "-105" "c.813-105T>C" "r.(=)" "p.(=)" "" "0000251188" "00020250" "10" "812" "86" "812" "86" "c.812+86T>G" "r.(=)" "p.(=)" "" "0000251189" "00020250" "10" "264" "46" "264" "46" "c.264+46T>C" "r.(=)" "p.(=)" "" "0000251190" "00020250" "10" "-60" "0" "-60" "0" "c.-60T>C" "r.(?)" "p.(=)" "" "0000251191" "00020250" "10" "-126" "0" "-126" "0" "c.-126del" "r.(?)" "p.(=)" "" "0000252004" "00020250" "30" "-126" "0" "-126" "0" "c.-126T>C" "r.(?)" "p.(=)" "" "0000252540" "00020250" "90" "779" "0" "779" "0" "c.779T>C" "r.(?)" "p.(Leu260Pro)" "" "0000252608" "00020250" "90" "1959" "0" "1959" "0" "c.1959T>A" "r.(?)" "p.(Tyr653Ter)" "" "0000252610" "00020250" "90" "3569" "2" "3569" "2" "c.3569+2T>C" "r.spl?" "p.?" "" "0000252611" "00020250" "90" "2806" "-13" "2806" "-13" "c.2806-13T>G" "r.(=)" "p.(=)" "" "0000255184" "00020250" "30" "2805" "7" "2805" "7" "c.2805+7T>G" "r.(=)" "p.(=)" "" "0000311529" "00020250" "10" "126" "0" "126" "0" "c.126C>T" "r.(?)" "p.(Val42=)" "" "0000311530" "00020250" "10" "1350" "14" "1350" "14" "c.1350+14A>T" "r.(=)" "p.(=)" "" "0000311531" "00020250" "10" "24" "3" "24" "3" "c.24+3A>G" "r.spl?" "p.?" "" "0000311532" "00020250" "10" "2874" "0" "2874" "0" "c.2874G>A" "r.(?)" "p.(Leu958=)" "" "0000311533" "00020250" "10" "3570" "-12" "3570" "-12" "c.3570-12C>T" "r.(=)" "p.(=)" "" "0000311534" "00020250" "10" "4195" "-12" "4195" "-12" "c.4195-12G>A" "r.(=)" "p.(=)" "" "0000311535" "00020250" "10" "5077" "0" "5077" "0" "c.5077A>C" "r.(?)" "p.(Lys1693Gln)" "" "0000311536" "00020250" "10" "5292" "0" "5292" "0" "c.5292C>A" "r.(?)" "p.(Ala1764=)" "" "0000311537" "00020250" "10" "5572" "0" "5572" "0" "c.5572C>G" "r.(?)" "p.(Leu1858Val)" "" "0000311538" "00020250" "10" "5958" "0" "5958" "0" "c.5958C>T" "r.(?)" "p.(Pro1986=)" "" "0000311540" "00020250" "10" "6549" "-12" "6549" "-12" "c.6549-12G>A" "r.(=)" "p.(=)" "" "0000311541" "00020250" "10" "6789" "-9" "6789" "-8" "c.6789-9_6789-8dup" "r.(=)" "p.(=)" "" "0000311542" "00020250" "10" "7095" "0" "7095" "0" "c.7095A>G" "r.(?)" "p.(Ala2365=)" "" "0000311543" "00020250" "10" "813" "-7" "813" "-7" "c.813-7A>T" "r.(=)" "p.(=)" "" "0000313888" "00020250" "10" "-62" "0" "-62" "0" "c.-62A>C" "r.(?)" "p.(=)" "" "0000313889" "00020250" "10" "7427" "0" "7427" "0" "c.*167A>G" "r.(=)" "p.(=)" "" "0000313890" "00020250" "90" "100" "0" "100" "0" "c.100C>T" "r.(?)" "p.(Arg34Trp)" "" "0000313891" "00020250" "90" "101" "0" "101" "0" "c.101G>C" "r.(?)" "p.(Arg34Pro)" "" "0000313892" "00020250" "10" "1248" "36" "1248" "36" "c.1248+36C>A" "r.(=)" "p.(=)" "" "0000313893" "00020250" "10" "126" "0" "126" "0" "c.126C>T" "r.(?)" "p.(Val42=)" "" "0000313894" "00020250" "10" "1350" "14" "1350" "14" "c.1350+14A>T" "r.(=)" "p.(=)" "" "0000313895" "00020250" "10" "1489" "-198" "1489" "-198" "c.1489-198A>G" "r.(=)" "p.(=)" "" "0000313896" "00020250" "10" "1489" "-41" "1489" "-41" "c.1489-41C>A" "r.(=)" "p.(=)" "" "0000313897" "00020250" "10" "1677" "60" "1677" "60" "c.1677+60G>T" "r.(=)" "p.(=)" "" "0000313898" "00020250" "30" "1703" "0" "1703" "0" "c.1703G>A" "r.(?)" "p.(Arg568His)" "" "0000313899" "00020250" "10" "1833" "92" "1833" "92" "c.1833+92C>T" "r.(=)" "p.(=)" "" "0000313900" "00020250" "10" "1834" "-16" "1834" "-14" "c.1834-16_1834-14del" "r.(=)" "p.(=)" "" "0000313903" "00020250" "10" "1834" "-14" "1834" "-14" "c.1834-14dup" "r.(=)" "p.(=)" "" "0000313904" "00020250" "10" "1834" "-15" "1834" "-14" "c.1834-15_1834-14del" "r.(=)" "p.(=)" "" "0000313906" "00020250" "10" "1958" "0" "1958" "0" "c.1958A>G" "r.(?)" "p.(Tyr653Cys)" "" "0000313907" "00020250" "10" "2102" "0" "2102" "0" "c.2102G>A" "r.(?)" "p.(Arg701His)" "" "0000313908" "00020250" "10" "2221" "-24" "2221" "-24" "c.2221-24G>A" "r.(=)" "p.(=)" "" "0000313909" "00020250" "10" "2353" "0" "2353" "0" "c.2353C>A" "r.(?)" "p.(Arg785=)" "" "0000313910" "00020250" "90" "2353" "0" "2353" "0" "c.2353C>T" "r.(?)" "p.(Arg785Ter)" "" "0000313911" "00020250" "90" "2373" "0" "2373" "0" "c.2373C>A" "r.(?)" "p.(Asp791Glu)" "" "0000313912" "00020250" "10" "24" "132" "24" "137" "c.24+132_24+137del" "r.(=)" "p.(=)" "" "0000313913" "00020250" "10" "24" "3" "24" "3" "c.24+3A>G" "r.spl?" "p.?" "" "0000313914" "00020250" "10" "2418" "0" "2418" "0" "c.2418G>A" "r.(?)" "p.(Glu806=)" "" "0000313915" "00020250" "10" "2465" "-58" "2465" "-58" "c.2465-58G>A" "r.(=)" "p.(=)" "" "0000313916" "00020250" "10" "25" "-178" "25" "-178" "c.25-178A>T" "r.(=)" "p.(=)" "" "0000313917" "00020250" "10" "25" "-25" "25" "-25" "c.25-25G>T" "r.(=)" "p.(=)" "" "0000313918" "00020250" "30" "2520" "0" "2520" "0" "c.2520G>C" "r.(?)" "p.(Glu840Asp)" "" "0000313919" "00020250" "30" "2588" "-4" "2588" "-4" "c.2588-4A>G" "r.spl?" "p.?" "" "0000313920" "00020250" "10" "264" "112" "264" "112" "c.264+112G>A" "r.(=)" "p.(=)" "" "0000313921" "00020250" "10" "264" "240" "264" "240" "c.264+240A>G" "r.(=)" "p.(=)" "" "0000313922" "00020250" "10" "265" "-24" "265" "-24" "c.265-24A>C" "r.(=)" "p.(=)" "" "0000313923" "00020250" "90" "2755" "0" "2755" "0" "c.2755G>T" "r.(?)" "p.(Glu919Ter)" "" "0000313924" "00020250" "10" "2874" "0" "2874" "0" "c.2874G>A" "r.(?)" "p.(Leu958=)" "" "0000313925" "00020250" "10" "2898" "53" "2898" "53" "c.2898+53G>T" "r.(=)" "p.(=)" "" "0000313926" "00020250" "10" "2899" "-103" "2899" "-103" "c.2899-103G>A" "r.(=)" "p.(=)" "" "0000313927" "00020250" "10" "2899" "-32" "2899" "-32" "c.2899-32G>A" "r.(=)" "p.(=)" "" "0000313928" "00020250" "10" "2909" "0" "2909" "0" "c.2909C>A" "r.(?)" "p.(Ala970Asp)" "" "0000313929" "00020250" "10" "2982" "0" "2982" "0" "c.2982A>G" "r.(?)" "p.(Arg994=)" "" "0000313930" "00020250" "10" "3171" "0" "3171" "0" "c.3171G>A" "r.(?)" "p.(Gln1057=)" "" "0000313931" "00020250" "50" "3357" "0" "3357" "0" "c.3357G>C" "r.(?)" "p.(Lys1119Asn)" "" "0000313932" "00020250" "10" "3570" "-12" "3570" "-12" "c.3570-12C>T" "r.(=)" "p.(=)" "" "0000313933" "00020250" "10" "3714" "76" "3714" "76" "c.3714+76G>A" "r.(=)" "p.(=)" "" "0000313934" "00020250" "10" "3896" "144" "3896" "144" "c.3896+144G>T" "r.(=)" "p.(=)" "" "0000313935" "00020250" "10" "3896" "39" "3896" "39" "c.3896+39G>A" "r.(=)" "p.(=)" "" "0000313936" "00020250" "10" "3997" "-42" "3997" "-42" "c.3997-42A>G" "r.(=)" "p.(=)" "" "0000313937" "00020250" "10" "4195" "-12" "4195" "-12" "c.4195-12G>A" "r.(=)" "p.(=)" "" "0000313938" "00020250" "90" "4339" "-99" "4339" "-99" "c.4339-99C>T" "r.(=)" "p.(=)" "" "0000313939" "00020250" "50" "4347" "0" "4347" "0" "c.4347G>T" "r.(?)" "p.(Lys1449Asn)" "" "0000313940" "00020250" "30" "4453" "0" "4453" "0" "c.4453C>T" "r.(?)" "p.(Leu1485Phe)" "" "0000313941" "00020250" "10" "4980" "72" "4980" "72" "c.4980+72G>C" "r.(=)" "p.(=)" "" "0000313942" "00020250" "10" "4981" "-147" "4981" "-147" "c.4981-147C>T" "r.(=)" "p.(=)" "" "0000313943" "00020250" "10" "5077" "0" "5077" "0" "c.5077A>C" "r.(?)" "p.(Lys1693Gln)" "" "0000313944" "00020250" "30" "5081" "0" "5081" "0" "c.5081G>A" "r.(?)" "p.(Arg1694His)" "" "0000313945" "00020250" "50" "5124" "0" "5124" "0" "c.5124A>T" "r.(?)" "p.(Lys1708Asn)" "" "0000313946" "00020250" "10" "5189" "35" "5189" "35" "c.5189+35A>C" "r.(=)" "p.(=)" "" "0000313947" "00020250" "10" "5292" "0" "5292" "0" "c.5292C>A" "r.(?)" "p.(Ala1764=)" "" "0000313948" "00020250" "10" "5388" "0" "5388" "0" "c.5388G>A" "r.(?)" "p.(Gln1796=)" "" "0000313949" "00020250" "10" "5507" "0" "5507" "0" "c.5507A>G" "r.(?)" "p.(Asn1836Ser)" "" "0000313950" "00020250" "10" "5565" "190" "5565" "190" "c.5565+190C>T" "r.(=)" "p.(=)" "" "0000313951" "00020250" "10" "5566" "-229" "5566" "-229" "c.5566-229A>G" "r.(=)" "p.(=)" "" "0000313952" "00020250" "10" "5572" "0" "5572" "0" "c.5572C>G" "r.(?)" "p.(Leu1858Val)" "" "0000313953" "00020250" "10" "5664" "119" "5664" "119" "c.5664+119C>G" "r.(=)" "p.(=)" "" "0000313954" "00020250" "90" "5791" "0" "5791" "0" "c.5791C>T" "r.(?)" "p.(Gln1931Ter)" "" "0000313955" "00020250" "10" "5833" "191" "5833" "191" "c.5833+191C>A" "r.(=)" "p.(=)" "" "0000313956" "00020250" "10" "5910" "112" "5910" "112" "c.5910+112A>G" "r.(=)" "p.(=)" "" "0000313957" "00020250" "10" "5910" "94" "5910" "94" "c.5910+94G>T" "r.(=)" "p.(=)" "" "0000313958" "00020250" "10" "5958" "0" "5958" "0" "c.5958C>T" "r.(?)" "p.(Pro1986=)" "" "0000313959" "00020250" "10" "5992" "0" "5992" "0" "c.5992G>C" "r.(?)" "p.(Ala1998Pro)" "" "0000313960" "00020250" "10" "6046" "0" "6046" "0" "c.6046C>T" "r.(?)" "p.(Arg2016Cys)" "" "0000313961" "00020250" "10" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Leu2038=)" "" "0000313962" "00020250" "10" "6437" "0" "6437" "0" "c.6437A>G" "r.(?)" "p.(Gln2146Arg)" "" "0000313963" "00020250" "10" "6530" "96" "6530" "96" "c.6530+96G>C" "r.(=)" "p.(=)" "" "0000313965" "00020250" "10" "6548" "45" "6548" "45" "c.6548+45A>C" "r.(=)" "p.(=)" "" "0000313966" "00020250" "10" "6548" "57" "6548" "57" "c.6548+57G>A" "r.(=)" "p.(=)" "" "0000313967" "00020250" "10" "6549" "-12" "6549" "-12" "c.6549-12G>A" "r.(=)" "p.(=)" "" "0000313968" "00020250" "10" "6549" "-22" "6549" "-22" "c.6549-22A>C" "r.(=)" "p.(=)" "" "0000313969" "00020250" "10" "6601" "-37" "6601" "-37" "c.6601-37G>A" "r.(=)" "p.(=)" "" "0000313970" "00020250" "90" "6769" "0" "6769" "0" "c.6769G>T" "r.(?)" "p.(Glu2257Ter)" "" "0000313971" "00020250" "90" "6788" "1" "6788" "1" "c.6788+1G>A" "r.spl?" "p.?" "" "0000313973" "00020250" "90" "678" "0" "678" "0" "c.678G>A" "r.(?)" "p.(Glu226=)" "" "0000313974" "00020250" "10" "679" "-166" "679" "-166" "c.679-166A>G" "r.(=)" "p.(=)" "" "0000313975" "00020250" "90" "6843" "-2" "6843" "-2" "c.6843-2A>G" "r.spl?" "p.?" "" "0000313976" "00020250" "10" "6990" "-87" "6990" "-87" "c.6990-87C>G" "r.(=)" "p.(=)" "" "0000313977" "00020250" "10" "7095" "0" "7095" "0" "c.7095A>G" "r.(?)" "p.(Ala2365=)" "" "0000313978" "00020250" "10" "7134" "181" "7134" "181" "c.7134+181C>T" "r.(=)" "p.(=)" "" "0000313979" "00020250" "10" "7134" "55" "7134" "55" "c.7134+55C>T" "r.(=)" "p.(=)" "" "0000313980" "00020250" "10" "7134" "64" "7134" "64" "c.7134+64C>T" "r.(=)" "p.(=)" "" "0000313981" "00020250" "10" "798" "0" "798" "0" "c.798A>G" "r.(?)" "p.(Leu266=)" "" "0000313982" "00020250" "10" "812" "183" "812" "183" "c.812+183G>T" "r.(=)" "p.(=)" "" "0000313983" "00020250" "10" "813" "-45" "813" "-45" "c.813-45A>G" "r.(=)" "p.(=)" "" "0000313984" "00020250" "10" "813" "-7" "813" "-7" "c.813-7A>T" "r.(=)" "p.(=)" "" "0000313985" "00020250" "90" "82" "0" "82" "0" "c.82C>A" "r.(?)" "p.(Arg28Ser)" "" "0000313986" "00020250" "90" "82" "0" "82" "0" "c.82C>G" "r.(?)" "p.(Arg28Gly)" "" "0000313987" "00020250" "90" "83" "0" "83" "0" "c.83G>A" "r.(?)" "p.(Arg28His)" "" "0000313988" "00020250" "50" "917" "0" "917" "0" "c.917A>C" "r.(?)" "p.(His306Pro)" "" "0000313989" "00020250" "10" "958" "-138" "958" "-138" "c.958-138A>G" "r.(=)" "p.(=)" "" "0000315636" "00020250" "30" "1351" "-4" "1351" "-4" "c.1351-4A>G" "r.spl?" "p.?" "" "0000315637" "00020250" "50" "2542" "0" "2542" "0" "c.2542C>T" "r.(?)" "p.(Arg848Cys)" "" "0000315638" "00020250" "50" "2600" "0" "2600" "0" "c.2600C>A" "r.(?)" "p.(Ala867Glu)" "" "0000315639" "00020250" "50" "3490" "0" "3490" "0" "c.3490C>T" "r.(?)" "p.(Arg1164Cys)" "" "0000315640" "00020250" "30" "3738" "0" "3738" "0" "c.3738A>G" "r.(?)" "p.(Ala1246=)" "" "0000315641" "00020250" "50" "4159" "0" "4159" "0" "c.4159C>T" "r.(?)" "p.(Arg1387Cys)" "" "0000315642" "00020250" "30" "5118" "0" "5118" "0" "c.5118C>T" "r.(?)" "p.(His1706=)" "" "0000315643" "00020250" "50" "5145" "0" "5145" "0" "c.5145G>T" "r.(?)" "p.(Leu1715Phe)" "" "0000315644" "00020250" "30" "6632" "0" "6632" "0" "c.6632G>A" "r.(?)" "p.(Arg2211His)" "" "0000315645" "00020250" "50" "6851" "0" "6851" "0" "c.6851A>G" "r.(?)" "p.(Asp2284Gly)" "" "0000321060" "00020250" "50" "11532" "0" "11532" "0" "c.*4272A>G" "r.(=)" "p.(=)" "" "0000321062" "00020250" "50" "6868" "0" "6868" "0" "c.6868C>A" "r.(?)" "p.(Arg2290Ser)" "" "0000503865" "00020250" "30" "6789" "-9" "6789" "-9" "c.6789-9T>C" "r.(=)" "p.(=)" "" "0000503866" "00020250" "10" "6789" "-9" "6789" "-8" "c.6789-9_6789-8dup" "r.(=)" "p.(=)" "" "0000503867" "00020250" "10" "6601" "-162" "6601" "-162" "c.6601-162A>G" "r.(=)" "p.(=)" "" "0000503869" "00020250" "10" "6120" "57" "6120" "57" "c.6120+57A>C" "r.(=)" "p.(=)" "" "0000503873" "00020250" "10" "5834" "-15" "5834" "-15" "c.5834-15G>A" "r.(=)" "p.(=)" "" "0000503874" "00020250" "30" "5378" "0" "5378" "0" "c.5378G>A" "r.(?)" "p.(Arg1793Gln)" "" "0000503875" "00020250" "50" "4823" "0" "4823" "0" "c.4823G>A" "r.(?)" "p.(Arg1608His)" "" "0000503876" "00020250" "10" "4605" "56" "4605" "56" "c.4605+56A>T" "r.(=)" "p.(=)" "" "0000503878" "00020250" "30" "4408" "0" "4408" "0" "c.4408G>A" "r.(?)" "p.(Glu1470Lys)" "" "0000503879" "00020250" "50" "4240" "0" "4240" "0" "c.4240C>T" "r.(?)" "p.(Arg1414Cys)" "" "0000503880" "00020250" "70" "4240" "0" "4240" "0" "c.4240C>T" "r.(?)" "p.(Arg1414Cys)" "" "0000503881" "00020250" "30" "3167" "0" "3167" "0" "c.3167G>T" "r.(?)" "p.(Arg1056Leu)" "" "0000503882" "00020250" "10" "3037" "-14" "3037" "-14" "c.3037-14T>C" "r.(=)" "p.(=)" "" "0000503883" "00020250" "30" "2588" "-3" "2588" "-3" "c.2588-3T>C" "r.spl?" "p.?" "" "0000503885" "00020250" "30" "2493" "0" "2493" "0" "c.2493T>C" "r.(?)" "p.(Leu831=)" "" "0000503887" "00020250" "30" "1982" "0" "1982" "0" "c.1982G>A" "r.(?)" "p.(Arg661His)" "" "0000503888" "00020250" "10" "1982" "0" "1982" "0" "c.1982G>A" "r.(?)" "p.(Arg661His)" "" "0000503889" "00020250" "30" "1958" "0" "1958" "0" "c.1958A>G" "r.(?)" "p.(Tyr653Cys)" "" "0000503890" "00020250" "90" "1850" "0" "1850" "0" "c.1850dup" "r.(?)" "p.(Ser618GlufsTer10)" "" "0000503891" "00020250" "10" "1600" "-10" "1600" "-10" "c.1600-10A>G" "r.(=)" "p.(=)" "" "0000503892" "00020250" "30" "1078" "0" "1078" "0" "c.1078A>T" "r.(?)" "p.(Thr360Ser)" "" "0000503893" "00020250" "10" "915" "0" "915" "0" "c.915T>C" "r.(?)" "p.(Ser305=)" "" "0000503894" "00020250" "10" "915" "0" "915" "0" "c.915T>C" "r.(?)" "p.(Ser305=)" "" "0000503896" "00020250" "10" "793" "0" "793" "0" "c.793A>G" "r.(?)" "p.(Asn265Asp)" "" "0000503897" "00020250" "90" "452" "0" "452" "0" "c.452G>A" "r.(?)" "p.(Gly151Asp)" "" "0000503898" "00020250" "10" "264" "239" "264" "239" "c.264+239C>T" "r.(=)" "p.(=)" "" "0000503899" "00020250" "30" "121" "0" "121" "0" "c.121C>A" "r.(?)" "p.(Arg41=)" "" "0000503900" "00020250" "30" "33" "0" "33" "0" "c.33G>C" "r.(?)" "p.(Glu11Asp)" "" "0000503901" "00020250" "10" "24" "27" "24" "27" "c.24+27A>G" "r.(=)" "p.(=)" "" "0000503902" "00020250" "10" "-48" "0" "-41" "0" "c.-48_-41dup" "r.(?)" "p.(=)" "" "0000503903" "00020250" "10" "-44" "0" "-41" "0" "c.-44_-41dup" "r.(?)" "p.(=)" "" "0000503904" "00020250" "10" "-42" "0" "-41" "0" "c.-42_-41dup" "r.(?)" "p.(=)" "" "0000604923" "00020250" "30" "5911" "-17" "5911" "-8" "c.5911-17_5911-8del" "r.(=)" "p.(=)" "" "0000604924" "00020250" "30" "4708" "0" "4708" "0" "c.4708G>A" "r.(?)" "p.(Ala1570Thr)" "" "0000620413" "00020250" "50" "2093" "0" "2093" "0" "c.2093A>T" "r.(?)" "p.(Asp698Val)" "" "0000647405" "00020250" "50" "6437" "0" "6437" "0" "c.6437A>G" "r.(?)" "p.(Gln2146Arg)" "" "0000647406" "00020250" "30" "6046" "0" "6046" "0" "c.6046C>T" "r.(?)" "p.(Arg2016Cys)" "" "0000647407" "00020250" "30" "5410" "0" "5410" "0" "c.5410C>T" "r.(?)" "p.(Leu1804Phe)" "" "0000647408" "00020250" "30" "4490" "0" "4490" "0" "c.4490G>A" "r.(?)" "p.(Gly1497Glu)" "" "0000647410" "00020250" "30" "2909" "0" "2909" "0" "c.2909C>A" "r.(?)" "p.(Ala970Asp)" "" "0000647411" "00020250" "50" "1958" "0" "1958" "0" "c.1958A>G" "r.(?)" "p.(Tyr653Cys)" "" "0000652966" "00020250" "70" "6421" "0" "6421" "0" "c.6421C>T" "r.(?)" "p.(Arg2141Trp)" "" "0000653787" "00020250" "90" "6286" "0" "6286" "0" "c.6286C>T" "r.(?)" "p.(Gln2096Ter)" "" "0000668967" "00020250" "30" "6046" "0" "6046" "0" "c.6046C>T" "r.(?)" "p.(Arg2016Cys)" "" "0000668968" "00020250" "50" "4453" "0" "4453" "0" "c.4453C>T" "r.(?)" "p.(Leu1485Phe)" "" "0000675512" "00020250" "30" "4672" "0" "4672" "0" "c.4672G>A" "r.(?)" "p.(Val1558Ile)" "" "0000675513" "00020250" "30" "1161" "0" "1161" "0" "c.1161C>T" "r.(?)" "p.(Asn387=)" "" "0000675514" "00020250" "90" "134" "0" "134" "0" "c.134G>C" "r.(?)" "p.(Arg45Thr)" "" "0000687907" "00020250" "30" "4590" "0" "4590" "0" "c.4590C>T" "r.(?)" "p.(Asp1530=)" "" "0000687908" "00020250" "50" "3491" "0" "3491" "0" "c.3491G>A" "r.(?)" "p.(Arg1164His)" "" "0000687909" "00020250" "50" "373" "0" "373" "0" "c.373G>A" "r.(?)" "p.(Ala125Thr)" "" "0000716919" "00020250" "50" "6026" "0" "6026" "0" "c.6026G>A" "r.(?)" "p.(Arg2009His)" "" "0000716920" "00020250" "30" "4996" "0" "4996" "0" "c.4996C>T" "r.(?)" "p.(Leu1666=)" "" "0000716921" "00020250" "50" "3157" "0" "3157" "0" "c.3157A>T" "r.(?)" "p.(Ile1053Phe)" "" "0000798857" "00020250" "70" "6989" "0" "6989" "0" "c.6989G>A" "r.(?)" "p.(Arg2330Lys)" "" "0000798858" "00020250" "50" "6170" "0" "6170" "0" "c.6170A>G" "r.(?)" "p.(Asn2057Ser)" "" "0000798859" "00020250" "10" "4490" "0" "4490" "0" "c.4490G>A" "r.(?)" "p.(Gly1497Glu)" "" "0000798860" "00020250" "30" "4443" "-9" "4443" "-9" "c.4443-9G>A" "r.(=)" "p.(=)" "" "0000798861" "00020250" "90" "352" "0" "352" "0" "c.352C>T" "r.(?)" "p.(Arg118*)" "" "0000798862" "00020250" "30" "23" "0" "23" "0" "c.23C>T" "r.(?)" "p.(Thr8Ile)" "" "0000815926" "00020250" "90" "5834" "-18" "5834" "-18" "c.5834-18A>G" "r.(?)" "p.(?)" "" "0000857079" "00020250" "70" "6600" "5" "6600" "5" "c.6600+5G>A" "r.spl?" "p.?" "" "0000857080" "00020250" "50" "6421" "0" "6421" "0" "c.6421C>G" "r.(?)" "p.(Arg2141Gly)" "" "0000857081" "00020250" "50" "5049" "0" "5049" "0" "c.5049G>T" "r.(?)" "p.(Gln1683His)" "" "0000857082" "00020250" "30" "3188" "8" "3188" "8" "c.3188+8C>G" "r.(=)" "p.(=)" "" "0000857083" "00020250" "30" "3152" "0" "3152" "0" "c.3152G>C" "r.(?)" "p.(Gly1051Ala)" "" "0000857084" "00020250" "30" "2862" "0" "2862" "0" "c.2862T>C" "r.(?)" "p.(Ser954=)" "" "0000857085" "00020250" "70" "2464" "1" "2464" "1" "c.2464+1G>A" "r.spl?" "p.?" "" "0000857086" "00020250" "50" "1688" "0" "1688" "0" "c.1688G>A" "r.(?)" "p.(Arg563Gln)" "" "0000857087" "00020250" "30" "679" "-5" "679" "-5" "c.679-5A>C" "r.spl?" "p.?" "" "0000868735" "00020250" "90" "4201" "0" "4201" "0" "c.4201C>T" "r.(?)" "p.(Gln1401Ter)" "" "0000868868" "00020250" "50" "2771" "0" "2771" "0" "c.2771A>T" "r.(?)" "p.(Asn924Ile)" "" "0000872574" "00020250" "50" "1490" "0" "1490" "0" "c.1490C>A" "r.(?)" "p.(Ala497Asp)" "" "0000877380" "00020250" "70" "757" "0" "757" "0" "c.757G>C" "r.(?)" "p.(Ala253Pro)" "" "0000882858" "00020250" "30" "2909" "0" "2909" "0" "c.2909C>A" "r.(?)" "p.(Ala970Asp)" "" "0000882859" "00020250" "30" "33" "0" "33" "0" "c.33G>C" "r.(?)" "p.(Glu11Asp)" "" "0000910817" "00020250" "30" "5808" "0" "5808" "0" "c.5808G>A" "r.(?)" "p.(Lys1936=)" "" "0000917024" "00020250" "30" "4453" "0" "4453" "0" "c.4453C>T" "r.(?)" "p.(Leu1485Phe)" "" "0000922982" "00020250" "50" "3357" "0" "3357" "0" "c.3357G>C" "r.(?)" "p.(Lys1119Asn)" "" "0000928046" "00020250" "50" "427" "0" "427" "0" "c.427C>A" "r.(?)" "p.(Leu143Met)" "" "0000933022" "00020250" "70" "779" "0" "779" "0" "c.779T>C" "r.(?)" "p.(Leu260Pro)" "" "0000933818" "00020250" "90" "1350" "1" "1350" "1" "c.1350+1G>T" "r.(?)" "p.(?)" "" "0000951873" "00020250" "70" "2452" "0" "2458" "0" "c.2452_2458dup" "r.(?)" "p.(Tyr820PhefsTer17)" "" "0000952174" "00020250" "70" "349" "0" "349" "0" "c.349G>T" "r.(?)" "p.(Glu117Ter)" "" "0000952430" "00020250" "90" "6004" "0" "6004" "0" "c.6004C>T" "r.(?)" "p.(Gln2002Ter)" "" "0000952431" "00020250" "70" "4240" "0" "4240" "0" "c.4240C>T" "r.(?)" "p.(Arg1414Cys)" "" "0000960577" "00020250" "50" "3596" "0" "3596" "0" "c.3596T>C" "r.(?)" "p.(Ile1199Thr)" "" "0000960578" "00020250" "30" "2465" "-4" "2465" "-4" "c.2465-4G>C" "r.spl?" "p.?" "" "0000960579" "00020250" "50" "1703" "0" "1703" "0" "c.1703G>A" "r.(?)" "p.(Arg568His)" "" "0000960580" "00020250" "70" "1487" "0" "1488" "0" "c.1487_1488dup" "r.(?)" "p.(Ala497Argfs*38)" "" "0000960582" "00020250" "30" "373" "0" "373" "0" "c.373G>A" "r.(?)" "p.(Ala125Thr)" "" "0000972023" "00020250" "50" "95" "0" "95" "0" "c.95T>C" "r.(?)" "p.(Leu32Ser)" "" "0000972102" "00020250" "70" "390" "1" "390" "1" "c.390+1G>T" "r.(?)" "p.(?)" "" "0000973404" "00020250" "50" "6467" "0" "6467" "0" "c.6467T>G" "r.(?)" "p.(Phe2156Cys)" "" "0000973405" "00020250" "90" "4339" "-99" "4339" "-99" "c.4339-99C>T" "r.(=)" "p.(=)" "" "0000990032" "00020250" "50" "1688" "0" "1688" "0" "c.1688G>A" "r.(?)" "p.(Arg563Gln)" "" "0001013229" "00020250" "70" "3897" "-1" "3897" "-1" "c.3897-1G>A" "r.spl?" "p.?" "" "0001017521" "00020250" "30" "1399" "0" "1399" "0" "c.1399G>A" "r.(?)" "p.(Glu467Lys)" "" "0001024046" "00020250" "90" "4339" "-99" "4339" "-99" "c.4339-99C>T" "r.(=)" "p.(=)" "" "0001024047" "00020250" "90" "2777" "0" "2780" "0" "c.2777_2780del" "r.(?)" "p.(Asn926Metfs*12)" "" "0001024048" "00020250" "50" "466" "0" "466" "0" "c.466C>T" "r.(?)" "p.(Arg156Trp)" "" "0001031382" "00020250" "50" "2413" "0" "2413" "0" "c.2413G>A" "r.(?)" "p.(Glu805Lys)" "" "0001045604" "00020250" "30" "7104" "0" "7104" "0" "c.7104G>T" "r.(?)" "p.(Lys2368Asn)" "" "0001045605" "00020250" "10" "6789" "-8" "6789" "-8" "c.6789-8dup" "r.(=)" "p.(=)" "" "0001049013" "00020250" "90" "620" "0" "620" "0" "c.620T>C" "r.(?)" "p.(Leu207Pro)" "" "0001050324" "00020250" "50" "3357" "0" "3357" "0" "c.3357G>C" "r.(?)" "p.(Lys1119Asn)" "" "0001050325" "00020250" "50" "2050" "0" "2050" "0" "c.2050C>A" "r.(?)" "p.(His684Asn)" "" "0001060405" "00020250" "90" "460" "0" "462" "0" "c.460_462dup" "r.(?)" "p.(Leu155dup)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000145364" "0000236477" "0000290716" "0000647405" "0000290717" "0000647406" "0000290718" "0000647407" "0000290719" "0000647408" "0000290721" "0000647410" "0000290722" "0000647411" "0000296277" "0000652966" "0000305279" "0000668967" "0000305280" "0000668968"