### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SKIV2L) # 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}}" "SKIV2L" "superkiller viralicidic activity 2-like (S. cerevisiae)" "6" "p21" "unknown" "NG_032652.1" "UD_136021512791" "" "https://www.LOVD.nl/SKIV2L" "" "1" "10898" "6499" "600478" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/SKIV2L_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2012-04-18 00:00:00" "00006" "2017-07-18 10:45:57" "00000" "2026-01-20 18:57:21" ## 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}}" "00018968" "SKIV2L" "superkiller viralicidic activity 2-like (S. cerevisiae)" "001" "NM_006929.4" "" "NP_008860.4" "" "" "" "-389" "3781" "3741" "31926581" "31937532" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "03685" "THES2" "trichohepatoenteric syndrome, type 2 (THES-2)" "AR" "614602" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SKIV2L" "03685" ## Individuals ## Do not remove or alter this header ## ## Count = 18 "{{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}}" "00107763" "" "" "" "1" "" "00006" "{PMID:Fabre 2012:22444670}" "" "" "no" "France" "" "0" "" "" "" "" "00107764" "" "" "" "1" "" "00006" "{PMID:Fabre 2012:22444670}" "" "" "yes" "" "" "0" "" "" "North Africa" "" "00107765" "" "" "" "1" "" "00006" "{PMID:Fabre 2012:22444670}" "" "" "yes" "Turkey" "" "0" "" "" "" "" "00107766" "" "" "" "1" "" "00006" "{PMID:Fabre 2012:22444670}" "" "" "no" "France" "" "0" "" "" "" "" "00107767" "" "" "" "1" "" "00006" "{PMID:Fabre 2012:22444670}" "" "" "yes" "Turkey" "" "0" "" "" "" "" "00107768" "" "" "" "1" "" "00006" "{PMID:Fabre 2012:22444670}" "" "" "yes" "Turkey" "" "0" "" "" "" "" "00294063" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294064" "" "" "" "226" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294065" "" "" "" "176" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294066" "" "" "" "22" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294067" "" "" "" "206" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305081" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305082" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305083" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00433040" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "F" "" "United States" "" "0" "" "" "Europe" "Pat7,1" "00444073" "" "" "" "1" "" "04607" "" "" "F" "yes" "(Turkey)" "" "" "" "" "" "" "00444076" "" "" "" "1" "" "04607" "" "" "M" "yes" "(Turkey)" "" "" "" "" "" "" "00451484" "" "" "" "1" "" "01164" "" "" "M" "likely" "Turkey" "" "0" "" "" "" "296779" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 18 "{{individualid}}" "{{diseaseid}}" "00107763" "03685" "00107764" "03685" "00107765" "03685" "00107766" "03685" "00107767" "03685" "00107768" "03685" "00294063" "00198" "00294064" "00198" "00294065" "00198" "00294066" "00198" "00294067" "00198" "00305081" "00198" "00305082" "00198" "00305083" "00198" "00433040" "05292" "00444073" "03685" "00444076" "03685" "00451484" "03685" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03685, 05292 ## Count = 10 "{{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}}" "0000085526" "03685" "00107763" "00006" "Familial, autosomal recessive" "" "Syndromic diarrhea/trichohepatoenteric syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000085527" "03685" "00107764" "00006" "Familial, autosomal recessive" "" "Syndromic diarrhea/trichohepatoenteric syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000085528" "03685" "00107765" "00006" "Familial, autosomal recessive" "" "Syndromic diarrhea/trichohepatoenteric syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000085529" "03685" "00107766" "00006" "Familial, autosomal recessive" "" "Syndromic diarrhea/trichohepatoenteric syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000085530" "03685" "00107767" "00006" "Familial, autosomal recessive" "" "Syndromic diarrhea/trichohepatoenteric syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000085531" "03685" "00107768" "00006" "Familial, autosomal recessive" "" "Syndromic diarrhea/trichohepatoenteric syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000323566" "05292" "00433040" "00006" "Familial, autosomal recessive" "" "antibody deficiency including hyper IgM syndrome" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" "0000333331" "03922" "00444073" "04607" "Familial, autosomal recessive" "" "congenital diarrhea, developmental delay, hair abnormalities, xerosis" "" "" "" "" "" "" "" "" "" "Trichohepatoenteric syndrome 2 (MIM #614602)" "" "0000333334" "03685" "00444076" "04607" "Familial, autosomal recessive" "" "congenital diarrhea immunodeficiency, hair abnormalities, hypogammaglobulinemia, facial dysmorphism" "" "" "" "" "" "" "" "" "Trichohepatoenteric syndrome 2 (MIM #614602)" "" "" "0000340202" "03685" "00451484" "01164" "Familial, autosomal recessive" "01y" "Abnormality of the liver, Cholestasis, Small for gestational age, Premature birth, Thrombocytopenia, Anemia, Neonatal respiratory distress, Hypoalbuminemia, Hyperglycemia, Meconium ileus" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 18 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000108234" "00107763" "0" "00006" "00002" "2012-04-18 14:44:59" "" "" "SEQ" "DNA" "" "" "0000108235" "00107764" "0" "00006" "00002" "2012-04-18 14:44:59" "" "" "SEQ" "DNA" "" "" "0000108236" "00107765" "0" "00006" "00002" "2012-04-18 14:44:59" "" "" "SEQ" "DNA" "" "" "0000108237" "00107766" "0" "00006" "00002" "2012-04-18 14:44:59" "" "" "SEQ" "DNA" "" "" "0000108238" "00107767" "0" "00006" "00002" "2012-04-18 14:44:59" "" "" "SEQ" "DNA" "" "" "0000108239" "00107768" "0" "00006" "00002" "2012-04-18 14:44:59" "" "" "SEQ" "DNA" "" "" "0000295231" "00294063" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295232" "00294064" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295233" "00294065" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295234" "00294066" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295235" "00294067" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306210" "00305081" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306211" "00305082" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306212" "00305083" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000434471" "00433040" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" "0000445570" "00444073" "1" "04607" "04607" "2023-12-13 11:24:12" "" "" "SEQ-NG" "RNA" "peripheral blood" "congenital diarrhea gene panel" "0000445573" "00444076" "1" "04607" "04607" "2023-12-13 11:55:45" "" "" "SEQ-NG" "RNA" "peripheral blood" "whole exome sequencing" "0000453085" "00451484" "1" "01164" "01164" "2024-06-07 14:23:17" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000108234" "SKIV2L" "0000108235" "SKIV2L" "0000108236" "SKIV2L" "0000108237" "SKIV2L" "0000108238" "SKIV2L" "0000108239" "SKIV2L" "0000445570" "SKIV2L" "0000445573" "SKIV2L" "0000453085" "SKIV2L" ## 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 = 177 "{{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}}" "0000174132" "1" "90" "6" "31929382" "31929382" "subst" "1.65297E-5" "00006" "SKIV2L_000004" "g.31929382G>A" "" "{PMID:Fabre 2012:22444670}" "BtsI-" "" "" "Germline" "" "" "0" "" "" "g.31961605G>A" "" "pathogenic" "" "0000174133" "2" "90" "6" "31929789" "31929789" "subst" "0" "00006" "SKIV2L_000005" "g.31929789T>G" "" "{PMID:Fabre 2012:22444670}" "" "" "" "Germline" "" "" "0" "" "" "g.31962012T>G" "" "pathogenic" "" "0000174135" "3" "90" "6" "31931498" "31931499" "ins" "0" "00006" "SKIV2L_000001" "g.31931498_31931499insA" "" "{PMID:Fabre 2012:22444670}" "MnlI+; ApaI-" "" "" "Germline" "" "" "0" "" "" "g.31963721_31963722insA" "" "pathogenic" "" "0000174136" "3" "90" "6" "31931220" "31931220" "del" "0" "00006" "SKIV2L_000008" "g.31931220del" "" "{PMID:Fabre 2012:22444670}" "" "" "" "Germline" "" "" "0" "" "" "g.31963443del" "" "pathogenic" "" "0000174138" "1" "90" "6" "31934549" "31934549" "subst" "1.2182E-5" "00006" "SKIV2L_000002" "g.31934549C>T" "" "{PMID:Fabre 2012:22444670}" "TseI-" "" "" "Germline" "" "" "0" "" "" "g.31966772C>T" "" "pathogenic" "" "0000174139" "2" "90" "6" "31934882" "31934882" "subst" "4.16157E-6" "00006" "SKIV2L_000003" "g.31934882G>A" "" "{PMID:Fabre 2012:22444670}" "MnlI+; BseYI-" "" "" "Germline" "" "" "0" "" "" "g.31967105G>A" "" "pathogenic" "" "0000174140" "3" "90" "6" "31935143" "31935143" "del" "0" "00006" "SKIV2L_000006" "g.31935143del" "" "{PMID:Fabre 2012:22444670}" "MslI+" "" "" "Germline" "" "" "0" "" "" "g.31967366del" "" "pathogenic" "" "0000174142" "3" "90" "6" "31935570" "31935571" "del" "2.07481E-5" "00006" "SKIV2L_000007" "g.31935570_31935571del" "" "{PMID:Fabre 2012:22444670}" "BslI+" "" "" "Germline" "" "" "0" "" "" "g.31967793_31967794del" "" "pathogenic" "" "0000251838" "0" "30" "6" "31918468" "31918468" "subst" "0.0112082" "02326" "CFB_000011" "g.31918468A>C" "" "" "" "CFB(NM_001710.5):c.1697A>C (p.E566A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31950691A>C" "" "likely benign" "" "0000270016" "0" "10" "6" "31916985" "31916985" "subst" "0.00658383" "02326" "CFB_000008" "g.31916985T>A" "" "" "" "CFB(NM_001710.5):c.1169-35T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31949208T>A" "" "benign" "" "0000270017" "0" "10" "6" "31917291" "31917291" "subst" "0.035938" "02326" "CFB_000009" "g.31917291C>T" "" "" "" "CFB(NM_001710.5):c.1365C>T (p.V455=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31949514C>T" "" "benign" "" "0000270018" "0" "30" "6" "31918080" "31918080" "subst" "0.00282395" "02326" "CFB_000010" "g.31918080C>T" "" "" "" "CFB(NM_001710.5):c.1524C>T (p.H508=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31950303C>T" "" "likely benign" "" "0000270019" "0" "10" "6" "31915144" "31915144" "subst" "0.0386374" "02326" "CFB_000003" "g.31915144G>A" "" "" "" "CFB(NM_001710.5):c.504G>A (p.P168=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31947367G>A" "" "benign" "" "0000270020" "0" "10" "6" "31915240" "31915240" "subst" "0.0082633" "02326" "CFB_000004" "g.31915240C>T" "" "" "" "CFB(NM_001710.5):c.600C>T (p.S200=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31947463C>T" "" "benign" "" "0000270021" "0" "10" "6" "31915532" "31915532" "subst" "0.0222647" "02326" "CFB_000005" "g.31915532C>T" "" "" "" "CFB(NM_001710.5):c.672C>T (p.Y224=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31947755C>T" "" "benign" "" "0000270022" "0" "10" "6" "31916013" "31916013" "subst" "0" "02326" "CFB_000006" "g.31916013T>C" "" "" "" "CFB(NM_001710.5):c.898-138T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31948236T>C" "" "benign" "" "0000273270" "0" "30" "6" "31916713" "31916713" "subst" "0.00226406" "01943" "CFB_000007" "g.31916713C>T" "" "" "" "CFB(NM_001710.5):c.1143C>T (p.R381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31948936C>T" "" "likely benign" "" "0000273271" "0" "30" "6" "31918080" "31918080" "subst" "0.00282395" "01943" "CFB_000010" "g.31918080C>T" "" "" "" "CFB(NM_001710.5):c.1524C>T (p.H508=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31950303C>T" "" "likely benign" "" "0000273272" "0" "30" "6" "31918558" "31918558" "subst" "0.00330988" "01943" "CFB_000012" "g.31918558G>A" "" "" "" "CFB(NM_001710.5):c.1778+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31950781G>A" "" "likely benign" "" "0000273273" "0" "30" "6" "31919110" "31919110" "subst" "1.23137E-5" "01943" "CFB_000013" "g.31919110C>T" "" "" "" "CFB(NM_001710.5):c.1957-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31951333C>T" "" "likely benign" "" "0000298220" "0" "10" "6" "31936668" "31936668" "subst" "0.781523" "02325" "SKIV2L_000022" "g.31936668T>C" "" "" "" "SKIC2(NM_006929.5):c.3201T>C (p.Y1067=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31968891T>C" "" "benign" "" "0000298221" "0" "10" "6" "31928799" "31928799" "subst" "0.762688" "02325" "SKIV2L_000011" "g.31928799T>C" "" "" "" "SKIC2(NM_006929.5):c.545-19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31961022T>C" "" "benign" "" "0000302121" "0" "70" "6" "31929828" "31929828" "subst" "4.14755E-6" "02326" "SKIV2L_000014" "g.31929828C>T" "" "" "" "SKIV2L(NM_006929.5):c.1061C>T (p.T354I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31962051C>T" "" "likely pathogenic" "" "0000302122" "0" "90" "6" "31931314" "31931314" "subst" "1.7583E-5" "02326" "SKIV2L_000017" "g.31931314C>T" "" "" "" "SKIV2L(NM_006929.5):c.1528C>T (p.R510*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31963537C>T" "" "pathogenic" "" "0000302123" "0" "90" "6" "31929382" "31929382" "subst" "1.65297E-5" "02326" "SKIV2L_000004" "g.31929382G>A" "" "" "" "SKIV2L(NM_006929.5):c.848G>A (p.W283*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31961605G>A" "" "pathogenic" "" "0000308193" "0" "30" "6" "31929787" "31929787" "subst" "0.000696616" "01943" "SKIV2L_000013" "g.31929787T>C" "" "" "" "SKIV2L(NM_006929.4):c.1020T>C (p.V340=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31962010T>C" "" "likely benign" "" "0000308194" "0" "30" "6" "31930318" "31930318" "subst" "0" "01943" "SKIV2L_000015" "g.31930318G>T" "" "" "" "SKIV2L(NM_006929.4):c.1167G>T (p.L389=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31962541G>T" "" "likely benign" "" "0000308195" "0" "50" "6" "31927167" "31927167" "subst" "0" "01943" "SKIV2L_000009" "g.31927167C>T" "" "" "" "SKIV2L(NM_006929.4):c.116C>T (p.P39L), SKIV2L(NM_006929.5):c.116C>T (p.P39L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31959390C>T" "" "VUS" "" "0000308196" "0" "30" "6" "31930324" "31930324" "subst" "0.00338407" "01943" "SKIV2L_000016" "g.31930324G>A" "" "" "" "SKIV2L(NM_006929.4):c.1173G>A (p.P391=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31962547G>A" "" "likely benign" "" "0000308197" "0" "30" "6" "31932123" "31932123" "subst" "0.000284755" "01943" "SKIV2L_000018" "g.31932123C>G" "" "" "" "SKIV2L(NM_006929.4):c.1971+4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31964346C>G" "" "likely benign" "" "0000308198" "0" "30" "6" "31935145" "31935145" "subst" "0.0029792" "01943" "SKIV2L_000020" "g.31935145G>A" "" "" "" "SKIV2L(NM_006929.4):c.2574G>A (p.V858=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31967368G>A" "" "likely benign" "" "0000308199" "0" "30" "6" "31928039" "31928039" "subst" "0.00389984" "01943" "SKIV2L_000010" "g.31928039C>G" "" "" "" "SKIV2L(NM_006929.4):c.279C>G (p.V93=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31960262C>G" "" "likely benign" "" "0000308200" "0" "50" "6" "31937174" "31937174" "subst" "0" "01943" "SKIV2L_000024" "g.31937174G>A" "" "" "" "SKIV2L(NM_006929.4):c.3517G>A (p.V1173I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31969397G>A" "" "VUS" "" "0000337693" "0" "10" "6" "31918903" "31918903" "subst" "0.039003" "02327" "CFB_000020" "g.31918903C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31951126C>T" "" "benign" "" "0000340672" "0" "10" "6" "31914935" "31914935" "subst" "0.824292" "02327" "CFB_000017" "g.31914935A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31947158A>G" "" "benign" "" "0000340897" "0" "10" "6" "31915144" "31915144" "subst" "0.0386374" "02327" "CFB_000003" "g.31915144G>A" "" "" "" "CFB(NM_001710.5):c.504G>A (p.P168=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31947367G>A" "" "benign" "" "0000341035" "0" "10" "6" "31914890" "31914890" "subst" "0.00353386" "02327" "CFB_000016" "g.31914890C>T" "" "" "" "CFB(NM_001710.5):c.405C>T (p.Y135=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31947113C>T" "" "benign" "" "0000341037" "0" "10" "6" "31915532" "31915532" "subst" "0.0222647" "02327" "CFB_000005" "g.31915532C>T" "" "" "" "CFB(NM_001710.5):c.672C>T (p.Y224=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31947755C>T" "" "benign" "" "0000341059" "0" "10" "6" "31917291" "31917291" "subst" "0.035938" "02327" "CFB_000009" "g.31917291C>T" "" "" "" "CFB(NM_001710.5):c.1365C>T (p.V455=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31949514C>T" "" "benign" "" "0000345911" "0" "10" "6" "31915614" "31915614" "subst" "0.0221058" "02327" "CFB_000018" "g.31915614G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31947837G>A" "" "benign" "" "0000346770" "0" "50" "6" "31918476" "31918476" "subst" "4.14817E-6" "02327" "CFB_000019" "g.31918476A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31950699A>C" "" "VUS" "" "0000528297" "0" "10" "6" "31915580" "31915580" "subst" "8.21902E-6" "02327" "C2_000017" "g.31915580G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31947803G>A" "" "benign" "" "0000528298" "0" "30" "6" "31915584" "31915584" "subst" "0.000965116" "01943" "C2_000018" "g.31915584A>C" "" "" "" "CFB(NM_001710.5):c.724A>C (p.I242L, p.(Ile242Leu)), CFB(NM_001710.6):c.724A>C (p.I242L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31947807A>C" "" "likely benign" "" "0000528299" "0" "50" "6" "31915584" "31915584" "subst" "0.000965116" "02327" "C2_000018" "g.31915584A>C" "" "" "" "CFB(NM_001710.5):c.724A>C (p.I242L, p.(Ile242Leu)), CFB(NM_001710.6):c.724A>C (p.I242L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31947807A>C" "" "VUS" "" "0000528300" "0" "10" "6" "31915819" "31915819" "subst" "0.0105784" "02327" "C2_000019" "g.31915819C>T" "" "" "" "CFB(NM_001710.5):c.858C>T (p.F286=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31948042C>T" "" "benign" "" "0000528301" "0" "30" "6" "31916597" "31916597" "subst" "0.000721758" "01943" "C2_000020" "g.31916597C>G" "" "" "" "CFB(NM_001710.5):c.1037-10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31948820C>G" "" "likely benign" "" "0000528302" "0" "50" "6" "31916644" "31916644" "subst" "3.73286E-5" "02327" "C2_000021" "g.31916644C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31948867C>T" "" "VUS" "" "0000528303" "0" "10" "6" "31916707" "31916707" "subst" "0.0111101" "02327" "C2_000022" "g.31916707C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31948930C>T" "" "benign" "" "0000528304" "0" "30" "6" "31916713" "31916713" "subst" "0.00226406" "02327" "CFB_000007" "g.31916713C>T" "" "" "" "CFB(NM_001710.5):c.1143C>T (p.R381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31948936C>T" "" "likely benign" "" "0000528305" "0" "30" "6" "31917341" "31917341" "subst" "0.000853936" "02327" "C2_000023" "g.31917341A>C" "" "" "" "CFB(NM_001710.5):c.1408+7A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31949564A>C" "" "likely benign" "" "0000528306" "0" "30" "6" "31918080" "31918080" "subst" "0.00282395" "02327" "CFB_000010" "g.31918080C>T" "" "" "" "CFB(NM_001710.5):c.1524C>T (p.H508=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31950303C>T" "" "likely benign" "" "0000528308" "0" "30" "6" "31918154" "31918154" "subst" "0.0091674" "02327" "C2_000024" "g.31918154A>G" "" "" "" "CFB(NM_001710.5):c.1598A>G (p.K533R), CFB(NM_001710.6):c.1598A>G (p.K533R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31950377A>G" "" "likely benign" "" "0000528309" "0" "30" "6" "31918154" "31918154" "subst" "0.0091674" "02326" "C2_000024" "g.31918154A>G" "" "" "" "CFB(NM_001710.5):c.1598A>G (p.K533R), CFB(NM_001710.6):c.1598A>G (p.K533R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31950377A>G" "" "likely benign" "" "0000528310" "0" "30" "6" "31918464" "31918464" "subst" "0.0106358" "02327" "CFB_000021" "g.31918464A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31950687A>G" "" "likely benign" "" "0000528312" "0" "30" "6" "31918468" "31918468" "subst" "0.0112082" "02327" "CFB_000011" "g.31918468A>C" "" "" "" "CFB(NM_001710.5):c.1697A>C (p.E566A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31950691A>C" "" "likely benign" "" "0000528313" "0" "50" "6" "31918500" "31918500" "subst" "8.71109E-5" "01943" "CFB_000022" "g.31918500G>A" "" "" "" "CFB(NM_001710.5):c.1729G>A (p.V577I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31950723G>A" "" "VUS" "" "0000528314" "0" "30" "6" "31918943" "31918943" "subst" "7.47347E-5" "01943" "CFB_000023" "g.31918943G>A" "" "" "" "CFB(NM_001710.5):c.1878G>A (p.Q626=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31951166G>A" "" "likely benign" "" "0000528315" "0" "30" "6" "31919166" "31919166" "subst" "8.12433E-5" "01943" "CFB_000024" "g.31919166G>C" "" "" "" "CFB(NM_001710.5):c.2005G>C (p.V669L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31951389G>C" "" "likely benign" "" "0000528317" "0" "10" "6" "31929014" "31929014" "subst" "0.76326" "02325" "SKIV2L_000025" "g.31929014A>C" "" "" "" "SKIC2(NM_006929.5):c.640A>C (p.M214L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31961237A>C" "" "benign" "" "0000528318" "0" "30" "6" "31929043" "31929043" "subst" "4.11259E-6" "01943" "SKIV2L_000026" "g.31929043T>A" "" "" "" "SKIV2L(NM_006929.4):c.669T>A (p.G223=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31961266T>A" "" "likely benign" "" "0000528320" "0" "30" "6" "31929757" "31929757" "subst" "2.90254E-5" "01943" "SKIV2L_000028" "g.31929757C>T" "" "" "" "SKIV2L(NM_006929.4):c.990C>T (p.V330=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31961980C>T" "" "likely benign" "" "0000528321" "0" "50" "6" "31930495" "31930495" "subst" "4.12429E-6" "02325" "SKIV2L_000029" "g.31930495A>G" "" "" "" "SKIC2(NM_006929.5):c.1216A>G (p.M406V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31962718A>G" "" "VUS" "" "0000528322" "0" "30" "6" "31930566" "31930566" "subst" "8.32341E-6" "01943" "SKIV2L_000030" "g.31930566C>T" "" "" "" "SKIV2L(NM_006929.4):c.1287C>T (p.N429=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31962789C>T" "" "likely benign" "" "0000528323" "0" "30" "6" "31931747" "31931747" "subst" "0.00212462" "01943" "SKIV2L_000031" "g.31931747G>A" "" "" "" "SKIV2L(NM_006929.4):c.1705G>A (p.V569M), SKIV2L(NM_006929.5):c.1705G>A (p.V569M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31963970G>A" "" "likely benign" "" "0000528324" "0" "30" "6" "31931747" "31931747" "subst" "0.00212462" "02326" "SKIV2L_000031" "g.31931747G>A" "" "" "" "SKIV2L(NM_006929.4):c.1705G>A (p.V569M), SKIV2L(NM_006929.5):c.1705G>A (p.V569M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31963970G>A" "" "likely benign" "" "0000528325" "0" "30" "6" "31931919" "31931928" "del" "0" "01943" "SKIV2L_000032" "g.31931919_31931928del" "" "" "" "SKIV2L(NM_006929.4):c.1860+17_1860+26delCTGTGTGCGT, SKIV2L(NM_006929.5):c.1860+17_1860+26delCTGTGTGCGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31964142_31964151del" "" "likely benign" "" "0000528326" "0" "30" "6" "31933733" "31933733" "subst" "1.67137E-5" "02326" "DOM3Z_000001" "g.31933733T>C" "" "" "" "SKIV2L(NM_006929.5):c.2145T>C (p.V715=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31965956T>C" "" "likely benign" "" "0000528327" "0" "50" "6" "31933735" "31933735" "subst" "0" "01943" "DOM3Z_000002" "g.31933735T>C" "" "" "" "SKIV2L(NM_006929.4):c.2147T>C (p.I716T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31965958T>C" "" "VUS" "" "0000528328" "0" "50" "6" "31933753" "31933753" "subst" "4.23844E-5" "01943" "DOM3Z_000003" "g.31933753G>A" "" "" "" "SKIV2L(NM_006929.4):c.2165G>A (p.R722Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31965976G>A" "" "VUS" "" "0000528329" "0" "30" "6" "31934474" "31934474" "subst" "0.000492775" "02326" "DOM3Z_000004" "g.31934474A>G" "" "" "" "SKIV2L(NM_006929.5):c.2203-12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31966697A>G" "" "likely benign" "" "0000528330" "0" "30" "6" "31935714" "31935714" "subst" "7.47217E-5" "02326" "DOM3Z_000005" "g.31935714T>C" "" "" "" "SKIV2L(NM_006929.5):c.2732-19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31967937T>C" "" "likely benign" "" "0000528332" "0" "10" "6" "31936477" "31936477" "subst" "0.00117843" "01943" "DOM3Z_000007" "g.31936477G>A" "" "" "" "SKIV2L(NM_006929.4):c.3084G>A (p.R1028=), SKIV2L(NM_006929.5):c.3084G>A (p.R1028=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31968700G>A" "" "benign" "" "0000528334" "0" "30" "6" "31937417" "31937417" "subst" "0.000947938" "01943" "DOM3Z_000009" "g.31937417G>A" "" "" "" "SKIV2L(NM_006929.4):c.3666G>A (p.L1222=), SKIV2L(NM_006929.5):c.3666G>A (p.L1222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31969640G>A" "" "likely benign" "" "0000528335" "0" "30" "6" "31937442" "31937442" "subst" "4.19643E-6" "01804" "DOM3Z_000010" "g.31937442A>G" "" "" "" "SKIV2L(NM_006929.4):c.3691A>G (p.(Thr1231Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31969665A>G" "" "likely benign" "" "0000610276" "0" "30" "6" "31915240" "31915240" "subst" "0.0082633" "02327" "CFB_000004" "g.31915240C>T" "" "" "" "CFB(NM_001710.5):c.600C>T (p.S200=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31947463C>T" "" "likely benign" "" "0000610277" "0" "50" "6" "31916597" "31916597" "subst" "0.000721758" "02327" "C2_000020" "g.31916597C>G" "" "" "" "CFB(NM_001710.5):c.1037-10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31948820C>G" "" "VUS" "" "0000610278" "0" "30" "6" "31918558" "31918558" "subst" "0.00330988" "02327" "CFB_000012" "g.31918558G>A" "" "" "" "CFB(NM_001710.5):c.1778+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31950781G>A" "" "likely benign" "" "0000610279" "0" "50" "6" "31929758" "31929758" "subst" "0.000116106" "01943" "SKIV2L_000033" "g.31929758G>A" "" "" "" "SKIV2L(NM_006929.4):c.991G>A (p.A331T), SKIV2L(NM_006929.5):c.991G>A (p.(Ala331Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31961981G>A" "" "VUS" "" "0000610280" "0" "30" "6" "31934841" "31934841" "subst" "9.9514E-5" "01943" "DOM3Z_000011" "g.31934841A>G" "" "" "" "SKIV2L(NM_006929.4):c.2401A>G (p.M801V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31967064A>G" "" "likely benign" "" "0000621689" "0" "50" "6" "31914879" "31914879" "subst" "0" "01943" "C2_000032" "g.31914879T>C" "" "" "" "CFB(NM_001710.5):c.394T>C (p.Y132H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31947102T>C" "" "VUS" "" "0000621690" "0" "30" "6" "31937072" "31937072" "subst" "4.06382E-5" "02326" "DOM3Z_000012" "g.31937072C>T" "" "" "" "SKIV2L(NM_006929.5):c.3415C>T (p.R1139W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31969295C>T" "" "likely benign" "" "0000651920" "1" "30" "6" "31929737" "31929737" "subst" "0.00804459" "03575" "SKIV2L_000012" "g.31929737C>T" "3/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs36038685}" "Germline" "" "rs36038685" "0" "" "" "g.31961960C>T" "" "likely benign" "" "0000651921" "1" "30" "6" "31929808" "31929808" "subst" "0.0279374" "03575" "SKIV2L_000034" "g.31929808C>T" "226/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "226 heterozygous; {DB:CLININrs35664695}" "Germline" "" "rs35664695" "0" "" "" "g.31962031C>T" "" "likely benign" "" "0000651922" "1" "30" "6" "31930351" "31930351" "subst" "0.0468736" "03575" "SKIV2L_000035" "g.31930351A>G" "176/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "176 heterozygous; {DB:CLININrs2734331}" "Germline" "" "rs2734331" "0" "" "" "g.31962574A>G" "" "likely benign" "" "0000651923" "1" "50" "6" "31931747" "31931747" "subst" "0.00212462" "03575" "SKIV2L_000031" "g.31931747G>A" "22/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "22 heterozygous, no homozygous; {DB:CLININrs144147284}" "Germline" "" "rs144147284" "0" "" "" "g.31963970G>A" "" "VUS" "" "0000651924" "1" "30" "6" "31935567" "31935567" "subst" "0.051215" "03575" "SKIV2L_000036" "g.31935567G>A" "206/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "206 heterozygous; {DB:CLININrs3911893}" "Germline" "" "rs3911893" "0" "" "" "g.31967790G>A" "" "likely benign" "" "0000655558" "0" "30" "6" "31919784" "31919784" "subst" "2.08002E-5" "02326" "CFB_000026" "g.31919784G>A" "" "" "" "CFB(NM_001710.5):c.2272G>A (p.D758N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31952007G>A" "" "likely benign" "" "0000669898" "3" "30" "6" "31929808" "31929808" "subst" "0.0279374" "03575" "SKIV2L_000034" "g.31929808C>T" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 homozygous; {DB:CLININrs35664695}" "Germline" "" "rs35664695" "0" "" "" "g.31962031C>T" "" "likely benign" "" "0000669899" "3" "30" "6" "31930351" "31930351" "subst" "0.0468736" "03575" "SKIV2L_000035" "g.31930351A>G" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 homozygous; {DB:CLININrs2734331}" "Germline" "" "rs2734331" "0" "" "" "g.31962574A>G" "" "likely benign" "" "0000669900" "3" "30" "6" "31935567" "31935567" "subst" "0.051215" "03575" "SKIV2L_000036" "g.31935567G>A" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 homozygous; {DB:CLININrs3911893}" "Germline" "" "rs3911893" "0" "" "" "g.31967790G>A" "" "likely benign" "" "0000677727" "0" "50" "6" "31915533" "31915533" "subst" "1.2409E-5" "01943" "C2_000037" "g.31915533G>A" "" "" "" "CFB(NM_001710.5):c.673G>A (p.D225N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677728" "0" "30" "6" "31915584" "31915584" "subst" "0.000965116" "02326" "C2_000018" "g.31915584A>C" "" "" "" "CFB(NM_001710.5):c.724A>C (p.I242L, p.(Ile242Leu)), CFB(NM_001710.6):c.724A>C (p.I242L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677729" "0" "50" "6" "31916676" "31916676" "subst" "0.000398228" "02327" "C2_000038" "g.31916676C>T" "" "" "" "CFB(NM_001710.5):c.1106C>T (p.P369L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677730" "0" "30" "6" "31922557" "31922557" "subst" "0.000148796" "01943" "CFB_000027" "g.31922557G>A" "" "" "" "NELFE(NM_002904.6):c.517C>T (p.R173C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677731" "0" "30" "6" "31928199" "31928199" "subst" "1.6246E-5" "01943" "SKIV2L_000037" "g.31928199C>T" "" "" "" "SKIV2L(NM_006929.4):c.355-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677732" "0" "50" "6" "31933780" "31933780" "subst" "0" "02325" "DOM3Z_000013" "g.31933780G>A" "" "" "" "SKIC2(NM_006929.5):c.2192G>A (p.R731H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677733" "0" "30" "6" "31934813" "31934813" "subst" "0" "01943" "DOM3Z_000014" "g.31934813G>C" "" "" "" "SKIV2L(NM_006929.4):c.2373G>C (p.K791N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677734" "0" "30" "6" "31937417" "31937417" "subst" "0.000947938" "02326" "DOM3Z_000009" "g.31937417G>A" "" "" "" "SKIV2L(NM_006929.4):c.3666G>A (p.L1222=), SKIV2L(NM_006929.5):c.3666G>A (p.L1222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677735" "0" "50" "6" "31938176" "31938176" "subst" "2.03031E-5" "01943" "DOM3Z_000015" "g.31938176C>T" "" "" "" "DXO(NM_005510.4):c.892G>A (p.G298S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689697" "0" "50" "6" "31930323" "31930323" "subst" "3.66044E-5" "01943" "SKIV2L_000038" "g.31930323C>T" "" "" "" "SKIV2L(NM_006929.4):c.1172C>T (p.P391L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689698" "0" "30" "6" "31931833" "31931833" "subst" "0" "01943" "SKIV2L_000039" "g.31931833G>A" "" "" "" "SKIV2L(NM_006929.4):c.1791G>A (p.K597=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689699" "0" "50" "6" "31934882" "31934882" "subst" "0.000898899" "01943" "DOM3Z_000016" "g.31934882G>C" "" "" "" "SKIV2L(NM_006929.4):c.2442G>C (p.W814C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689700" "0" "50" "6" "31936746" "31936746" "subst" "0" "01943" "DOM3Z_000017" "g.31936746G>C" "" "" "" "SKIV2L(NM_006929.4):c.3279G>C (p.E1093D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720833" "0" "30" "6" "31916713" "31916713" "subst" "0.00226406" "02326" "CFB_000007" "g.31916713C>T" "" "" "" "CFB(NM_001710.5):c.1143C>T (p.R381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720834" "0" "50" "6" "31918154" "31918154" "subst" "0.0091674" "02329" "C2_000024" "g.31918154A>G" "" "" "" "CFB(NM_001710.5):c.1598A>G (p.K533R), CFB(NM_001710.6):c.1598A>G (p.K533R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720835" "0" "30" "6" "31918986" "31918986" "subst" "8.30068E-6" "01943" "CFB_000028" "g.31918986A>T" "" "" "" "CFB(NM_001710.5):c.1921A>T (p.T641S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720836" "0" "30" "6" "31919031" "31919031" "subst" "0" "01943" "CFB_000029" "g.31919031G>A" "" "" "" "CFB(NM_001710.5):c.1956+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720837" "0" "30" "6" "31927839" "31927839" "subst" "0.000605578" "01943" "SKIV2L_000040" "g.31927839A>G" "" "" "" "SKIV2L(NM_006929.4):c.179A>G (p.Q60R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720838" "0" "50" "6" "31937127" "31937127" "subst" "0.000398063" "01943" "DOM3Z_000018" "g.31937127C>T" "" "" "" "SKIC2(NM_006929.5):c.3470C>T (p.T1157M), SKIV2L(NM_006929.4):c.3470C>T (p.T1157M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720839" "0" "50" "6" "31937127" "31937127" "subst" "0.000398063" "02325" "DOM3Z_000018" "g.31937127C>T" "" "" "" "SKIC2(NM_006929.5):c.3470C>T (p.T1157M), SKIV2L(NM_006929.4):c.3470C>T (p.T1157M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802499" "0" "50" "6" "31915281" "31915281" "subst" "0" "01943" "C2_000048" "g.31915281C>T" "" "" "" "CFB(NM_001710.5):c.641C>T (p.T214M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802500" "0" "30" "6" "31916231" "31916231" "subst" "0.000706834" "02326" "C2_000049" "g.31916231A>C" "" "" "" "CFB(NM_001710.5):c.978A>C (p.E326D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802501" "0" "50" "6" "31917882" "31917882" "subst" "1.6592E-5" "02327" "C2_000050" "g.31917882C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802502" "0" "30" "6" "31918558" "31918558" "subst" "0.00330988" "02326" "CFB_000012" "g.31918558G>A" "" "" "" "CFB(NM_001710.5):c.1778+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802503" "0" "50" "6" "31927167" "31927167" "subst" "0" "02326" "SKIV2L_000009" "g.31927167C>T" "" "" "" "SKIV2L(NM_006929.4):c.116C>T (p.P39L), SKIV2L(NM_006929.5):c.116C>T (p.P39L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802504" "0" "30" "6" "31928238" "31928238" "subst" "0.00306577" "02326" "SKIV2L_000041" "g.31928238T>C" "" "" "" "SKIV2L(NM_006929.5):c.384T>C (p.A128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802505" "0" "30" "6" "31929148" "31929148" "subst" "0.00253859" "02326" "SKIV2L_000042" "g.31929148A>G" "" "" "" "SKIV2L(NM_006929.5):c.774A>G (p.E258=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802506" "0" "50" "6" "31930245" "31930253" "del" "0" "01943" "SKIV2L_000043" "g.31930245_31930253del" "" "" "" "SKIV2L(NM_006929.4):c.1094_1102delTGAGCAACC (p.L365_N367del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802507" "0" "50" "6" "31931858" "31931858" "subst" "0.000220325" "01943" "SKIV2L_000044" "g.31931858C>T" "" "" "" "SKIV2L(NM_006929.4):c.1816C>T (p.R606C), SKIV2L(NM_006929.5):c.1816C>T (p.R606C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802508" "0" "30" "6" "31936719" "31936719" "subst" "0.000224131" "01943" "DOM3Z_000019" "g.31936719G>A" "" "" "" "SKIV2L(NM_006929.4):c.3252G>A (p.M1084I), SKIV2L(NM_006929.5):c.3252G>A (p.M1084I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851170" "0" "30" "6" "31917341" "31917341" "subst" "0.000853936" "02326" "C2_000023" "g.31917341A>C" "" "" "" "CFB(NM_001710.5):c.1408+7A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860289" "0" "30" "6" "31916676" "31916676" "subst" "0.000398228" "02326" "C2_000038" "g.31916676C>T" "" "" "" "CFB(NM_001710.5):c.1106C>T (p.P369L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860290" "0" "50" "6" "31917267" "31917267" "subst" "4.1087E-6" "02327" "C2_000055" "g.31917267C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860291" "0" "30" "6" "31918104" "31918104" "subst" "0.000186476" "01943" "C2_000056" "g.31918104G>A" "" "" "" "CFB(NM_001710.5):c.1548G>A (p.V516=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860292" "0" "50" "6" "31935074" "31935074" "subst" "1.24426E-5" "01943" "DOM3Z_000020" "g.31935074G>A" "" "" "" "SKIV2L(NM_006929.4):c.2503G>A (p.G835R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887152" "0" "50" "6" "31915151" "31915151" "subst" "4.14872E-6" "02325" "C2_000059" "g.31915151C>A" "" "" "" "CFB(NM_001710.6):c.511C>A (p.P171T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887153" "0" "10" "6" "31915819" "31915819" "subst" "0.0105784" "02326" "C2_000019" "g.31915819C>T" "" "" "" "CFB(NM_001710.5):c.858C>T (p.F286=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887154" "0" "50" "6" "31917068" "31917068" "subst" "8.12209E-6" "02327" "C2_000060" "g.31917068G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887155" "0" "70" "6" "31919136" "31919137" "del" "0" "02329" "CFB_000030" "g.31919136_31919137del" "" "" "" "CFB(NM_001710.6):c.1975_1976delGA (p.D659Cfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000887156" "0" "30" "6" "31933730" "31933730" "subst" "2.50696E-5" "02326" "DOM3Z_000021" "g.31933730C>T" "" "" "" "SKIV2L(NM_006929.5):c.2142C>T (p.T714=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912451" "0" "10" "6" "31914890" "31914890" "subst" "0.00353386" "02326" "CFB_000016" "g.31914890C>T" "" "" "" "CFB(NM_001710.5):c.405C>T (p.Y135=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912452" "0" "50" "6" "31915564" "31915564" "subst" "0" "02326" "C2_000061" "g.31915564T>C" "" "" "" "CFB(NM_001710.5):c.704T>C (p.L235P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912453" "0" "50" "6" "31915584" "31915584" "subst" "0.000965116" "02325" "C2_000018" "g.31915584A>C" "" "" "" "CFB(NM_001710.5):c.724A>C (p.I242L, p.(Ile242Leu)), CFB(NM_001710.6):c.724A>C (p.I242L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912454" "0" "30" "6" "31915875" "31915878" "del" "0.00114803" "02326" "C2_000062" "g.31915875_31915878del" "" "" "" "CFB(NM_001710.5):c.897+17_897+20delCCTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912455" "0" "30" "6" "31916597" "31916597" "subst" "0.000721758" "02326" "C2_000020" "g.31916597C>G" "" "" "" "CFB(NM_001710.5):c.1037-10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912456" "0" "30" "6" "31918943" "31918943" "subst" "7.47347E-5" "02326" "CFB_000023" "g.31918943G>A" "" "" "" "CFB(NM_001710.5):c.1878G>A (p.Q626=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912457" "0" "10" "6" "31919018" "31919018" "subst" "0.00175372" "02326" "CFB_000031" "g.31919018T>G" "" "" "" "CFB(NM_001710.5):c.1953T>G (p.D651E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912458" "0" "30" "6" "31929115" "31929115" "subst" "0.00276854" "02326" "SKIV2L_000027" "g.31929115C>G" "" "" "" "SKIV2L(NM_006929.5):c.741C>G (p.C247W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912459" "0" "30" "6" "31931858" "31931858" "subst" "0.000220325" "02326" "SKIV2L_000044" "g.31931858C>T" "" "" "" "SKIV2L(NM_006929.4):c.1816C>T (p.R606C), SKIV2L(NM_006929.5):c.1816C>T (p.R606C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912460" "0" "30" "6" "31931919" "31931928" "del" "0" "02326" "SKIV2L_000032" "g.31931919_31931928del" "" "" "" "SKIV2L(NM_006929.4):c.1860+17_1860+26delCTGTGTGCGT, SKIV2L(NM_006929.5):c.1860+17_1860+26delCTGTGTGCGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912461" "0" "30" "6" "31936719" "31936719" "subst" "0.000224131" "02326" "DOM3Z_000019" "g.31936719G>A" "" "" "" "SKIV2L(NM_006929.4):c.3252G>A (p.M1084I), SKIV2L(NM_006929.5):c.3252G>A (p.M1084I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000920231" "1" "90" "6" "31930271" "31930271" "subst" "2.0307E-5" "00006" "SKIV2L_000045" "g.31930271C>T" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "" "Germline" "" "" "0" "" "" "g.31962494C>T" "" "pathogenic" "ACMG" "0000920333" "2" "50" "6" "31937073" "31937073" "subst" "0" "00006" "SKIV2L_000046" "g.31937073G>C" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "" "Germline" "" "" "0" "" "" "g.31969296G>C" "" "VUS" "ACMG" "0000924468" "0" "30" "6" "31929812" "31929812" "subst" "8.29408E-6" "02326" "SKIV2L_000047" "g.31929812G>A" "" "" "" "SKIV2L(NM_006929.5):c.1045G>A (p.A349T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924469" "0" "30" "6" "31935562" "31935562" "subst" "0" "02326" "DOM3Z_000022" "g.31935562C>T" "" "" "" "SKIV2L(NM_006929.5):c.2654C>T (p.P885L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924470" "0" "30" "6" "31936477" "31936477" "subst" "0.00117843" "02326" "DOM3Z_000007" "g.31936477G>A" "" "" "" "SKIV2L(NM_006929.4):c.3084G>A (p.R1028=), SKIV2L(NM_006929.5):c.3084G>A (p.R1028=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000953629" "3" "70" "6" "31936247" "31936247" "del" "0" "04607" "SKIV2L_000048" "g.31936247del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.31968470del" "" "pathogenic (recessive)" "ACMG" "0000953632" "3" "90" "6" "31931220" "31931220" "del" "0" "04607" "SKIV2L_000008" "g.31931220del" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.31963443del" "" "pathogenic (recessive)" "ACMG" "0000964000" "0" "50" "6" "31916721" "31916721" "subst" "0" "02325" "C2_000065" "g.31916721T>C" "" "" "" "CFB(NM_001710.6):c.1151T>C (p.I384T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964001" "0" "30" "6" "31919018" "31919018" "subst" "0.00175372" "02327" "CFB_000031" "g.31919018T>G" "" "" "" "CFB(NM_001710.5):c.1953T>G (p.D651E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964002" "0" "50" "6" "31919184" "31919184" "subst" "1.62437E-5" "02327" "CFB_000032" "g.31919184G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977162" "0" "50" "6" "31928113" "31928113" "subst" "0" "01804" "SKIV2L_000049" "g.31928113A>G" "" "" "" "SKIV2L(NM_006929.5):c.353A>G (p.(Glu118Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977163" "0" "50" "6" "31929758" "31929758" "subst" "0.000116106" "01804" "SKIV2L_000033" "g.31929758G>A" "" "" "" "SKIV2L(NM_006929.4):c.991G>A (p.A331T), SKIV2L(NM_006929.5):c.991G>A (p.(Ala331Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977164" "0" "50" "6" "31933632" "31933632" "subst" "2.90355E-5" "01804" "DOM3Z_000023" "g.31933632C>T" "" "" "" "SKIV2L(NM_006929.5):c.2044C>T (p.(Arg682Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977165" "0" "50" "6" "31933677" "31933677" "dup" "0" "01804" "DOM3Z_000024" "g.31933677dup" "" "" "" "SKIV2L(NM_006929.5):c.2089dup (p.(Tyr697Leufs*76))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977166" "0" "50" "6" "31934493" "31934493" "subst" "1.62574E-5" "01804" "DOM3Z_000025" "g.31934493C>T" "" "" "" "SKIV2L(NM_006929.5):c.2210C>T (p.(Pro737Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977167" "0" "50" "6" "31936703" "31936703" "subst" "0" "01804" "DOM3Z_000026" "g.31936703G>A" "" "" "" "SKIV2L(NM_006929.5):c.3236G>A (p.(Arg1079Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000987598" "3" "70" "6" "31936565" "31936565" "subst" "4.15555E-6" "01164" "SKIV2L_000050" "g.31936565C>T" "" "PMID:22444670" "" "" "ACMG: PVS1, PM3, PM2_SUP" "Germline" "-" "" "" "" "" "g.31968788C>T" "VCV002910197.1" "pathogenic (recessive)" "ACMG" "0000995661" "0" "30" "6" "31915584" "31915584" "subst" "0.000965116" "01804" "C2_000018" "g.31915584A>C" "" "" "" "CFB(NM_001710.5):c.724A>C (p.I242L, p.(Ile242Leu)), CFB(NM_001710.6):c.724A>C (p.I242L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014201" "0" "50" "6" "31915199" "31915199" "subst" "2.90391E-5" "02327" "C2_000068" "g.31915199G>A" "" "" "" "CFB(NM_001710.6):c.559G>A (p.V187I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025202" "0" "50" "6" "31915199" "31915199" "subst" "2.90391E-5" "02325" "C2_000068" "g.31915199G>A" "" "" "" "CFB(NM_001710.6):c.559G>A (p.V187I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025203" "0" "50" "6" "31915596" "31915596" "subst" "0" "02327" "C2_000069" "g.31915596G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035680" "0" "50" "6" "31918500" "31918500" "subst" "8.71109E-5" "02327" "CFB_000022" "g.31918500G>A" "" "" "" "CFB(NM_001710.5):c.1729G>A (p.V577I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035681" "0" "50" "6" "31919166" "31919166" "subst" "8.12433E-5" "02327" "CFB_000024" "g.31919166G>C" "" "" "" "CFB(NM_001710.5):c.2005G>C (p.V669L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035682" "0" "90" "6" "31927895" "31927895" "subst" "4.14941E-5" "01804" "SKIV2L_000051" "g.31927895C>T" "" "" "" "SKIV2L(NM_006929.5):c.235C>T (p.(Arg79*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001035683" "0" "30" "6" "31928123" "31928123" "subst" "4.06412E-6" "01804" "SKIV2L_000052" "g.31928123T>G" "" "" "" "SKIV2L(NM_006929.5):c.354+9T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035684" "0" "90" "6" "31930271" "31930271" "subst" "2.0307E-5" "01804" "SKIV2L_000045" "g.31930271C>T" "" "" "" "SKIV2L(NM_006929.5):c.1120C>T (p.(Arg374*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001035685" "0" "50" "6" "31931191" "31931191" "subst" "4.92863E-6" "01804" "SKIV2L_000053" "g.31931191C>T" "" "" "" "SKIV2L(NM_006929.5):c.1405C>T (p.(Arg469Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035686" "0" "50" "6" "31931768" "31931768" "subst" "8.31463E-6" "01804" "SKIV2L_000054" "g.31931768C>T" "" "" "" "SKIV2L(NM_006929.5):c.1726C>T (p.(Arg576Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046059" "0" "50" "6" "31916268" "31916268" "subst" "1.21931E-5" "02327" "C2_000071" "g.31916268C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046060" "0" "50" "6" "31917300" "31917300" "subst" "1.23872E-5" "02327" "C2_000072" "g.31917300G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046061" "0" "30" "6" "31918557" "31918557" "subst" "4.56257E-5" "02327" "CFB_000033" "g.31918557C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052304" "0" "10" "6" "31919830" "31919830" "subst" "0.0389918" "02327" "CFB_000034" "g.31919830C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001052305" "0" "30" "6" "31931339" "31931339" "subst" "0" "01804" "SKIV2L_000055" "g.31931339A>G" "" "" "" "SKIV2L(NM_006929.5):c.1550+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001064526" "0" "50" "6" "31917300" "31917300" "subst" "1.23872E-5" "02325" "C2_000072" "g.31917300G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064527" "0" "50" "6" "31930262" "31930262" "del" "0" "01804" "SKIV2L_000056" "g.31930262del" "" "" "" "SKIV2L(NM_006929.5):c.1111del (p.(Arg371Glyfs*28))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064528" "0" "50" "6" "31931204" "31931204" "subst" "0" "01804" "SKIV2L_000057" "g.31931204G>A" "" "" "" "SKIV2L(NM_006929.5):c.1418G>A (p.(Arg473His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SKIV2L ## Count = 177 "{{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}}" "0000174132" "00018968" "90" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Trp283*)" "9" "0000174133" "00018968" "90" "1022" "0" "1022" "0" "c.1022T>G" "r.(?)" "p.(Val341Gly)" "10" "0000174135" "00018968" "90" "1635" "0" "1636" "0" "c.1635_1636insA" "r.(?)" "p.(Gly546Argfs*35)" "11" "0000174136" "00018968" "90" "1434" "0" "1434" "0" "c.1434del" "r.(?)" "p.(Ser479Alafs*3)" "14" "0000174138" "00018968" "90" "2266" "0" "2266" "0" "c.2266C>T" "r.(?)" "p.(Arg756*)" "19" "0000174139" "00018968" "90" "2442" "0" "2442" "0" "c.2442G>A" "r.(?)" "p.(Trp814*)" "20" "0000174140" "00018968" "90" "2572" "0" "2572" "0" "c.2572del" "r.(?)" "p.(Val858*)" "21" "0000174142" "00018968" "90" "2662" "0" "2663" "0" "c.2662_2663del" "r.(?)" "p.(Arg888Glyfs*12)" "22" "0000251838" "00018968" "30" "-8502" "0" "-8502" "0" "c.-8502A>C" "r.(?)" "p.(=)" "" "0000270016" "00018968" "10" "-9985" "0" "-9985" "0" "c.-9985T>A" "r.(?)" "p.(=)" "" "0000270017" "00018968" "10" "-9679" "0" "-9679" "0" "c.-9679C>T" "r.(?)" "p.(=)" "" "0000270018" "00018968" "30" "-8890" "0" "-8890" "0" "c.-8890C>T" "r.(?)" "p.(=)" "" "0000270019" "00018968" "10" "-11826" "0" "-11826" "0" "c.-11826G>A" "r.(?)" "p.(=)" "" "0000270020" "00018968" "10" "-11730" "0" "-11730" "0" "c.-11730C>T" "r.(?)" "p.(=)" "" "0000270021" "00018968" "10" "-11438" "0" "-11438" "0" "c.-11438C>T" "r.(?)" "p.(=)" "" "0000270022" "00018968" "10" "-10957" "0" "-10957" "0" "c.-10957T>C" "r.(?)" "p.(=)" "" "0000273270" "00018968" "30" "-10257" "0" "-10257" "0" "c.-10257C>T" "r.(?)" "p.(=)" "" "0000273271" "00018968" "30" "-8890" "0" "-8890" "0" "c.-8890C>T" "r.(?)" "p.(=)" "" "0000273272" "00018968" "30" "-8412" "0" "-8412" "0" "c.-8412G>A" "r.(?)" "p.(=)" "" "0000273273" "00018968" "30" "-7860" "0" "-7860" "0" "c.-7860C>T" "r.(?)" "p.(=)" "" "0000298220" "00018968" "10" "3201" "0" "3201" "0" "c.3201T>C" "r.(?)" "p.(Tyr1067=)" "" "0000298221" "00018968" "10" "545" "-19" "545" "-19" "c.545-19T>C" "r.(=)" "p.(=)" "" "0000302121" "00018968" "70" "1061" "0" "1061" "0" "c.1061C>T" "r.(?)" "p.(Thr354Ile)" "" "0000302122" "00018968" "90" "1528" "0" "1528" "0" "c.1528C>T" "r.(?)" "p.(Arg510Ter)" "" "0000302123" "00018968" "90" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Trp283Ter)" "" "0000308193" "00018968" "30" "1020" "0" "1020" "0" "c.1020T>C" "r.(?)" "p.(Val340=)" "" "0000308194" "00018968" "30" "1167" "0" "1167" "0" "c.1167G>T" "r.(?)" "p.(Leu389=)" "" "0000308195" "00018968" "50" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Pro39Leu)" "" "0000308196" "00018968" "30" "1173" "0" "1173" "0" "c.1173G>A" "r.(?)" "p.(Pro391=)" "" "0000308197" "00018968" "30" "1971" "4" "1971" "4" "c.1971+4C>G" "r.spl?" "p.?" "" "0000308198" "00018968" "30" "2574" "0" "2574" "0" "c.2574G>A" "r.(?)" "p.(Val858=)" "" "0000308199" "00018968" "30" "279" "0" "279" "0" "c.279C>G" "r.(?)" "p.(Val93=)" "" "0000308200" "00018968" "50" "3517" "0" "3517" "0" "c.3517G>A" "r.(?)" "p.(Val1173Ile)" "" "0000337693" "00018968" "10" "-8067" "0" "-8067" "0" "c.-8067C>T" "r.(?)" "p.(=)" "" "0000340672" "00018968" "10" "-12035" "0" "-12035" "0" "c.-12035A>G" "r.(?)" "p.(=)" "" "0000340897" "00018968" "10" "-11826" "0" "-11826" "0" "c.-11826G>A" "r.(?)" "p.(=)" "" "0000341035" "00018968" "10" "-12080" "0" "-12080" "0" "c.-12080C>T" "r.(?)" "p.(=)" "" "0000341037" "00018968" "10" "-11438" "0" "-11438" "0" "c.-11438C>T" "r.(?)" "p.(=)" "" "0000341059" "00018968" "10" "-9679" "0" "-9679" "0" "c.-9679C>T" "r.(?)" "p.(=)" "" "0000345911" "00018968" "10" "-11356" "0" "-11356" "0" "c.-11356G>A" "r.(?)" "p.(=)" "" "0000346770" "00018968" "50" "-8494" "0" "-8494" "0" "c.-8494A>C" "r.(?)" "p.(=)" "" "0000528297" "00018968" "10" "-11390" "0" "-11390" "0" "c.-11390G>A" "r.(?)" "p.(=)" "" "0000528298" "00018968" "30" "-11386" "0" "-11386" "0" "c.-11386A>C" "r.(?)" "p.(=)" "" "0000528299" "00018968" "50" "-11386" "0" "-11386" "0" "c.-11386A>C" "r.(?)" "p.(=)" "" "0000528300" "00018968" "10" "-11151" "0" "-11151" "0" "c.-11151C>T" "r.(?)" "p.(=)" "" "0000528301" "00018968" "30" "-10373" "0" "-10373" "0" "c.-10373C>G" "r.(?)" "p.(=)" "" "0000528302" "00018968" "50" "-10326" "0" "-10326" "0" "c.-10326C>T" "r.(?)" "p.(=)" "" "0000528303" "00018968" "10" "-10263" "0" "-10263" "0" "c.-10263C>T" "r.(?)" "p.(=)" "" "0000528304" "00018968" "30" "-10257" "0" "-10257" "0" "c.-10257C>T" "r.(?)" "p.(=)" "" "0000528305" "00018968" "30" "-9629" "0" "-9629" "0" "c.-9629A>C" "r.(?)" "p.(=)" "" "0000528306" "00018968" "30" "-8890" "0" "-8890" "0" "c.-8890C>T" "r.(?)" "p.(=)" "" "0000528308" "00018968" "30" "-8816" "0" "-8816" "0" "c.-8816A>G" "r.(?)" "p.(=)" "" "0000528309" "00018968" "30" "-8816" "0" "-8816" "0" "c.-8816A>G" "r.(?)" "p.(=)" "" "0000528310" "00018968" "30" "-8506" "0" "-8506" "0" "c.-8506A>G" "r.(?)" "p.(=)" "" "0000528312" "00018968" "30" "-8502" "0" "-8502" "0" "c.-8502A>C" "r.(?)" "p.(=)" "" "0000528313" "00018968" "50" "-8470" "0" "-8470" "0" "c.-8470G>A" "r.(?)" "p.(=)" "" "0000528314" "00018968" "30" "-8027" "0" "-8027" "0" "c.-8027G>A" "r.(?)" "p.(=)" "" "0000528315" "00018968" "30" "-7804" "0" "-7804" "0" "c.-7804G>C" "r.(?)" "p.(=)" "" "0000528317" "00018968" "10" "640" "0" "640" "0" "c.640A>C" "r.(?)" "p.(Met214Leu)" "" "0000528318" "00018968" "30" "669" "0" "669" "0" "c.669T>A" "r.(?)" "p.(Gly223=)" "" "0000528320" "00018968" "30" "990" "0" "990" "0" "c.990C>T" "r.(?)" "p.(Val330=)" "" "0000528321" "00018968" "50" "1216" "0" "1216" "0" "c.1216A>G" "r.(?)" "p.(Met406Val)" "" "0000528322" "00018968" "30" "1287" "0" "1287" "0" "c.1287C>T" "r.(?)" "p.(Asn429=)" "" "0000528323" "00018968" "30" "1705" "0" "1705" "0" "c.1705G>A" "r.(?)" "p.(Val569Met)" "" "0000528324" "00018968" "30" "1705" "0" "1705" "0" "c.1705G>A" "r.(?)" "p.(Val569Met)" "" "0000528325" "00018968" "30" "1860" "17" "1860" "26" "c.1860+17_1860+26del" "r.(=)" "p.(=)" "" "0000528326" "00018968" "30" "2145" "0" "2145" "0" "c.2145T>C" "r.(?)" "p.(Val715=)" "" "0000528327" "00018968" "50" "2147" "0" "2147" "0" "c.2147T>C" "r.(?)" "p.(Ile716Thr)" "" "0000528328" "00018968" "50" "2165" "0" "2165" "0" "c.2165G>A" "r.(?)" "p.(Arg722Gln)" "" "0000528329" "00018968" "30" "2203" "-12" "2203" "-12" "c.2203-12A>G" "r.(=)" "p.(=)" "" "0000528330" "00018968" "30" "2732" "-19" "2732" "-19" "c.2732-19T>C" "r.(=)" "p.(=)" "" "0000528332" "00018968" "10" "3084" "0" "3084" "0" "c.3084G>A" "r.(?)" "p.(Arg1028=)" "" "0000528334" "00018968" "30" "3666" "0" "3666" "0" "c.3666G>A" "r.(?)" "p.(Leu1222=)" "" "0000528335" "00018968" "30" "3691" "0" "3691" "0" "c.3691A>G" "r.(?)" "p.(Thr1231Ala)" "" "0000610276" "00018968" "30" "-11730" "0" "-11730" "0" "c.-11730C>T" "r.(?)" "p.(=)" "" "0000610277" "00018968" "50" "-10373" "0" "-10373" "0" "c.-10373C>G" "r.(?)" "p.(=)" "" "0000610278" "00018968" "30" "-8412" "0" "-8412" "0" "c.-8412G>A" "r.(?)" "p.(=)" "" "0000610279" "00018968" "50" "991" "0" "991" "0" "c.991G>A" "r.(?)" "p.(Ala331Thr)" "" "0000610280" "00018968" "30" "2401" "0" "2401" "0" "c.2401A>G" "r.(?)" "p.(Met801Val)" "" "0000621689" "00018968" "50" "-12091" "0" "-12091" "0" "c.-12091T>C" "r.(?)" "p.(=)" "" "0000621690" "00018968" "30" "3415" "0" "3415" "0" "c.3415C>T" "r.(?)" "p.(Arg1139Trp)" "" "0000651920" "00018968" "30" "970" "0" "970" "0" "c.970C>T" "r.(?)" "p.(Arg324Trp)" "" "0000651921" "00018968" "30" "1041" "0" "1041" "0" "c.1041C>T" "r.(=)" "p.(=)" "" "0000651922" "00018968" "30" "1200" "0" "1200" "0" "c.1200A>G" "r.(=)" "p.(=)" "" "0000651923" "00018968" "50" "1705" "0" "1705" "0" "c.1705G>A" "r.(?)" "p.(Val569Met)" "" "0000651924" "00018968" "30" "2659" "0" "2659" "0" "c.2659G>A" "r.(?)" "p.(Asp887Asn)" "" "0000655558" "00018968" "30" "-7186" "0" "-7186" "0" "c.-7186G>A" "r.(?)" "p.(=)" "" "0000669898" "00018968" "30" "1041" "0" "1041" "0" "c.1041C>T" "r.(=)" "p.(=)" "" "0000669899" "00018968" "30" "1200" "0" "1200" "0" "c.1200A>G" "r.(=)" "p.(=)" "" "0000669900" "00018968" "30" "2659" "0" "2659" "0" "c.2659G>A" "r.(?)" "p.(Asp887Asn)" "" "0000677727" "00018968" "50" "-11437" "0" "-11437" "0" "c.-11437G>A" "r.(?)" "p.(=)" "" "0000677728" "00018968" "30" "-11386" "0" "-11386" "0" "c.-11386A>C" "r.(?)" "p.(=)" "" "0000677729" "00018968" "50" "-10294" "0" "-10294" "0" "c.-10294C>T" "r.(?)" "p.(=)" "" "0000677730" "00018968" "30" "-4413" "0" "-4413" "0" "c.-4413G>A" "r.(?)" "p.(=)" "" "0000677731" "00018968" "30" "355" "-10" "355" "-10" "c.355-10C>T" "r.(=)" "p.(=)" "" "0000677732" "00018968" "50" "2192" "0" "2192" "0" "c.2192G>A" "r.(?)" "p.(Arg731His)" "" "0000677733" "00018968" "30" "2373" "0" "2373" "0" "c.2373G>C" "r.(?)" "p.(Lys791Asn)" "" "0000677734" "00018968" "30" "3666" "0" "3666" "0" "c.3666G>A" "r.(?)" "p.(Leu1222=)" "" "0000677735" "00018968" "50" "4425" "0" "4425" "0" "c.*684C>T" "r.(=)" "p.(=)" "" "0000689697" "00018968" "50" "1172" "0" "1172" "0" "c.1172C>T" "r.(?)" "p.(Pro391Leu)" "" "0000689698" "00018968" "30" "1791" "0" "1791" "0" "c.1791G>A" "r.(?)" "p.(Lys597=)" "" "0000689699" "00018968" "50" "2442" "0" "2442" "0" "c.2442G>C" "r.(?)" "p.(Trp814Cys)" "" "0000689700" "00018968" "50" "3279" "0" "3279" "0" "c.3279G>C" "r.(?)" "p.(Glu1093Asp)" "" "0000720833" "00018968" "30" "-10257" "0" "-10257" "0" "c.-10257C>T" "r.(?)" "p.(=)" "" "0000720834" "00018968" "50" "-8816" "0" "-8816" "0" "c.-8816A>G" "r.(?)" "p.(=)" "" "0000720835" "00018968" "30" "-7984" "0" "-7984" "0" "c.-7984A>T" "r.(?)" "p.(=)" "" "0000720836" "00018968" "30" "-7939" "0" "-7939" "0" "c.-7939G>A" "r.(?)" "p.(=)" "" "0000720837" "00018968" "30" "179" "0" "179" "0" "c.179A>G" "r.(?)" "p.(Gln60Arg)" "" "0000720838" "00018968" "50" "3470" "0" "3470" "0" "c.3470C>T" "r.(?)" "p.(Thr1157Met)" "" "0000720839" "00018968" "50" "3470" "0" "3470" "0" "c.3470C>T" "r.(?)" "p.(Thr1157Met)" "" "0000802499" "00018968" "50" "-11689" "0" "-11689" "0" "c.-11689C>T" "r.(?)" "p.(=)" "" "0000802500" "00018968" "30" "-10739" "0" "-10739" "0" "c.-10739A>C" "r.(?)" "p.(=)" "" "0000802501" "00018968" "50" "-9088" "0" "-9088" "0" "c.-9088C>T" "r.(?)" "p.(=)" "" "0000802502" "00018968" "30" "-8412" "0" "-8412" "0" "c.-8412G>A" "r.(?)" "p.(=)" "" "0000802503" "00018968" "50" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Pro39Leu)" "" "0000802504" "00018968" "30" "384" "0" "384" "0" "c.384T>C" "r.(?)" "p.(Ala128=)" "" "0000802505" "00018968" "30" "774" "0" "774" "0" "c.774A>G" "r.(?)" "p.(Glu258=)" "" "0000802506" "00018968" "50" "1094" "0" "1102" "0" "c.1094_1102del" "r.(?)" "p.(Leu365_Asn367del)" "" "0000802507" "00018968" "50" "1816" "0" "1816" "0" "c.1816C>T" "r.(?)" "p.(Arg606Cys)" "" "0000802508" "00018968" "30" "3252" "0" "3252" "0" "c.3252G>A" "r.(?)" "p.(Met1084Ile)" "" "0000851170" "00018968" "30" "-9629" "0" "-9629" "0" "c.-9629A>C" "r.(?)" "p.(=)" "" "0000860289" "00018968" "30" "-10294" "0" "-10294" "0" "c.-10294C>T" "r.(?)" "p.(=)" "" "0000860290" "00018968" "50" "-9703" "0" "-9703" "0" "c.-9703C>A" "r.(?)" "p.(=)" "" "0000860291" "00018968" "30" "-8866" "0" "-8866" "0" "c.-8866G>A" "r.(?)" "p.(=)" "" "0000860292" "00018968" "50" "2503" "0" "2503" "0" "c.2503G>A" "r.(?)" "p.(Gly835Arg)" "" "0000887152" "00018968" "50" "-11819" "0" "-11819" "0" "c.-11819C>A" "r.(?)" "p.(=)" "" "0000887153" "00018968" "10" "-11151" "0" "-11151" "0" "c.-11151C>T" "r.(?)" "p.(=)" "" "0000887154" "00018968" "50" "-9902" "0" "-9902" "0" "c.-9902G>A" "r.(?)" "p.(=)" "" "0000887155" "00018968" "70" "-7834" "0" "-7833" "0" "c.-7834_-7833del" "r.(?)" "p.(=)" "" "0000887156" "00018968" "30" "2142" "0" "2142" "0" "c.2142C>T" "r.(?)" "p.(Thr714=)" "" "0000912451" "00018968" "10" "-12080" "0" "-12080" "0" "c.-12080C>T" "r.(?)" "p.(=)" "" "0000912452" "00018968" "50" "-11406" "0" "-11406" "0" "c.-11406T>C" "r.(?)" "p.(=)" "" "0000912453" "00018968" "50" "-11386" "0" "-11386" "0" "c.-11386A>C" "r.(?)" "p.(=)" "" "0000912454" "00018968" "30" "-11095" "0" "-11092" "0" "c.-11095_-11092del" "r.(?)" "p.(=)" "" "0000912455" "00018968" "30" "-10373" "0" "-10373" "0" "c.-10373C>G" "r.(?)" "p.(=)" "" "0000912456" "00018968" "30" "-8027" "0" "-8027" "0" "c.-8027G>A" "r.(?)" "p.(=)" "" "0000912457" "00018968" "10" "-7952" "0" "-7952" "0" "c.-7952T>G" "r.(?)" "p.(=)" "" "0000912458" "00018968" "30" "741" "0" "741" "0" "c.741C>G" "r.(?)" "p.(Cys247Trp)" "" "0000912459" "00018968" "30" "1816" "0" "1816" "0" "c.1816C>T" "r.(?)" "p.(Arg606Cys)" "" "0000912460" "00018968" "30" "1860" "17" "1860" "26" "c.1860+17_1860+26del" "r.(=)" "p.(=)" "" "0000912461" "00018968" "30" "3252" "0" "3252" "0" "c.3252G>A" "r.(?)" "p.(Met1084Ile)" "" "0000920231" "00018968" "90" "1120" "0" "1120" "0" "c.1120C>T" "r.(?)" "p.(Arg374Ter)" "11" "0000920333" "00018968" "50" "3416" "0" "3416" "0" "c.3416G>C" "r.(?)" "p.(Arg1139Pro)" "27" "0000924468" "00018968" "30" "1045" "0" "1045" "0" "c.1045G>A" "r.(?)" "p.(Ala349Thr)" "" "0000924469" "00018968" "30" "2654" "0" "2654" "0" "c.2654C>T" "r.(?)" "p.(Pro885Leu)" "" "0000924470" "00018968" "30" "3084" "0" "3084" "0" "c.3084G>A" "r.(?)" "p.(Arg1028=)" "" "0000953629" "00018968" "70" "3001" "0" "3001" "0" "c.3001del" "r.(?)" "p.(Arg1001Glyfs*8)" "" "0000953632" "00018968" "90" "1434" "0" "1434" "0" "c.1434del" "r.(?)" "p.(Ser479Alafs*3)" "" "0000964000" "00018968" "50" "-10249" "0" "-10249" "0" "c.-10249T>C" "r.(?)" "p.(=)" "" "0000964001" "00018968" "30" "-7952" "0" "-7952" "0" "c.-7952T>G" "r.(?)" "p.(=)" "" "0000964002" "00018968" "50" "-7786" "0" "-7786" "0" "c.-7786G>A" "r.(?)" "p.(=)" "" "0000977162" "00018968" "50" "353" "0" "353" "0" "c.353A>G" "r.(?)" "p.(Glu118Gly)" "" "0000977163" "00018968" "50" "991" "0" "991" "0" "c.991G>A" "r.(?)" "p.(Ala331Thr)" "" "0000977164" "00018968" "50" "2044" "0" "2044" "0" "c.2044C>T" "r.(?)" "p.(Arg682Cys)" "" "0000977165" "00018968" "50" "2089" "0" "2089" "0" "c.2089dup" "r.(?)" "p.(Tyr697Leufs*76)" "" "0000977166" "00018968" "50" "2210" "0" "2210" "0" "c.2210C>T" "r.(?)" "p.(Pro737Leu)" "" "0000977167" "00018968" "50" "3236" "0" "3236" "0" "c.3236G>A" "r.(?)" "p.(Arg1079Gln)" "" "0000987598" "00018968" "70" "3172" "0" "3172" "0" "c.3172C>T" "r.(?)" "p.(Arg1058*)" "" "0000995661" "00018968" "30" "-11386" "0" "-11386" "0" "c.-11386A>C" "r.(?)" "p.(=)" "" "0001014201" "00018968" "50" "-11771" "0" "-11771" "0" "c.-11771G>A" "r.(?)" "p.(=)" "" "0001025202" "00018968" "50" "-11771" "0" "-11771" "0" "c.-11771G>A" "r.(?)" "p.(=)" "" "0001025203" "00018968" "50" "-11374" "0" "-11374" "0" "c.-11374G>A" "r.(?)" "p.(=)" "" "0001035680" "00018968" "50" "-8470" "0" "-8470" "0" "c.-8470G>A" "r.(?)" "p.(=)" "" "0001035681" "00018968" "50" "-7804" "0" "-7804" "0" "c.-7804G>C" "r.(?)" "p.(=)" "" "0001035682" "00018968" "90" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Arg79*)" "" "0001035683" "00018968" "30" "354" "9" "354" "9" "c.354+9T>G" "r.(=)" "p.(=)" "" "0001035684" "00018968" "90" "1120" "0" "1120" "0" "c.1120C>T" "r.(?)" "p.(Arg374*)" "" "0001035685" "00018968" "50" "1405" "0" "1405" "0" "c.1405C>T" "r.(?)" "p.(Arg469Trp)" "" "0001035686" "00018968" "50" "1726" "0" "1726" "0" "c.1726C>T" "r.(?)" "p.(Arg576Trp)" "" "0001046059" "00018968" "50" "-10702" "0" "-10702" "0" "c.-10702C>T" "r.(?)" "p.(=)" "" "0001046060" "00018968" "50" "-9670" "0" "-9670" "0" "c.-9670G>A" "r.(?)" "p.(=)" "" "0001046061" "00018968" "30" "-8413" "0" "-8413" "0" "c.-8413C>T" "r.(?)" "p.(=)" "" "0001052304" "00018968" "10" "-7140" "0" "-7140" "0" "c.-7140C>T" "r.(?)" "p.(=)" "" "0001052305" "00018968" "30" "1550" "3" "1550" "3" "c.1550+3A>G" "r.spl?" "p.?" "" "0001064526" "00018968" "50" "-9670" "0" "-9670" "0" "c.-9670G>A" "r.(?)" "p.(=)" "" "0001064527" "00018968" "50" "1111" "0" "1111" "0" "c.1111del" "r.(?)" "p.(Arg371Glyfs*28)" "" "0001064528" "00018968" "50" "1418" "0" "1418" "0" "c.1418G>A" "r.(?)" "p.(Arg473His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{variantid}}" "0000108234" "0000174132" "0000108234" "0000174133" "0000108235" "0000174135" "0000108236" "0000174136" "0000108237" "0000174138" "0000108237" "0000174139" "0000108238" "0000174140" "0000108239" "0000174142" "0000295231" "0000651920" "0000295232" "0000651921" "0000295233" "0000651922" "0000295234" "0000651923" "0000295235" "0000651924" "0000306210" "0000669898" "0000306211" "0000669899" "0000306212" "0000669900" "0000434471" "0000920231" "0000434471" "0000920333" "0000445570" "0000953629" "0000445573" "0000953632" "0000453085" "0000987598"