### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLX4) # 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}}" "SLX4" "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)" "16" "p13.3" "unknown" "NG_028123.1" "UD_132118133705" "" "https://www.LOVD.nl/SLX4" "Fanconi anemia mutation databases homepage (Rockefeller University) " "1" "23845" "84464" "613278" "1" "1" "1" "1" "Reference sequence NG_028123.1 is identical to LRG_503
Variants associated with Fanconi anemia.\r\nWe gratefully acknowledge the efforts of Arleen Auerbach curating the variant linked to Fanconi Anemia (until end 2019)." "" "g" "https://databases.lovd.nl/shared/refseq/SLX4_codingDNA.html" "1" "" " A Fanconi anemia mutation database.
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" "-1" "" "-1" "00001" "2011-02-07 00:00:00" "00006" "2020-07-21 08:08:17" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00019403" "SLX4" "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)" "001" "NM_032444.2" "" "NP_115820.2" "" "" "" "-627" "6666" "5505" "3661585" "3631182" "" "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" "00318" "cancer, breast" "cancer, breast" "" "" "" "" "" "00006" "2014-02-02 14:42:53" "00006" "2019-08-28 08:24:47" "00681" "cancer, pancreatic" "cancer, pancreatic" "" "260350" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-08-28 08:24:29" "03491" "FANCP" "Fanconi anemia, complementation group P (FANCP)" "AR" "613951" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05489" "cancer, colon" "cancer, colon" "" "" "" "" "" "00006" "2018-10-26 16:33:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SLX4" "03491" ## Individuals ## Do not remove or alter this header ## ## Count = 17 "{{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}}" "00020020" "" "" "" "1" "" "00787" "{PMID:Stoepker 2011:21240277}" "" "M" "?" "" "" "0" "" "" "" "" "00020021" "" "" "" "1" "" "00787" "{PMID:Stoepker 2011:21240277}" "" "?" "?" "" "" "0" "" "" "" "" "00020022" "" "" "" "1" "" "00787" "{PMID:Kim 2011:21240275}" "" "F" "?" "" "" "0" "" "" "South Indian" "" "00020023" "" "" "" "1" "" "00787" "{PMID:Kim 2011:21240275}" "" "M" "?" "" "" "0" "" "" "" "" "00020024" "" "" "" "1" "" "00787" "{PMID:Stoepker 2011:21240277}" "" "?" "?" "" "" "0" "" "" "" "" "00020025" "" "" "" "1" "" "00787" "{PMID:Stoepker 2011:21240277}" "" "?" "?" "" "" "0" "" "" "" "" "00020026" "" "" "" "1" "" "00797" "Schuster et al, 2012" "" "F" "no" "" "" "0" "" "" "" "" "00022416" "" "" "" "729" "" "00798" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "cohort of 729 BRCA1/2-negative familial breast cancer cases (Nehterlands 562, Canada 74, Belgie 93)" "-" "-" "Belgium;Canada;Netherlands" "" "0" "" "" "" "" "00022417" "" "" "" "729" "" "00798" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "3-generation family, daugther, affected mother (85y, carrier?), unaffected carrier daugther (42y)" "F" "-" "" "" "0" "" "" "" "" "00246550" "" "" "" "1" "" "00643" "{PMID:Fostira 2020:31300551}" "" "" "" "Greece" "" "0" "" "" "" "" "00246566" "" "" "" "1" "" "00643" "{PMID:Fostira 2020:31300551}" "" "" "" "Greece" "" "0" "" "" "" "" "00299436" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00376154" "" "" "" "1" "" "00585" "" "" "M" "" "Belgium" "" "0" "" "" "" "" "00406994" "" "" "" "2" "" "00006" "{PMID:Jiang 2022:33563768}" "analysis 486 colorectal cancer patients" "" "" "China" "" "0" "" "" "" "" "00406995" "" "" "" "2" "" "00006" "{PMID:Jiang 2022:33563768}" "analysis 486 colorectal cancer patients" "" "" "China" "" "0" "" "" "" "" "00443723" "" "" "" "1" "" "04599" "" "" "M" "" "Mexico" "" "" "" "" "Mexican" "MXCCR0138" "00443724" "" "" "" "1" "" "04599" "" "" "M" "" "Mexico" "" "" "" "" "Mexican" "UCDMX024" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 17 "{{individualid}}" "{{diseaseid}}" "00020020" "03491" "00020021" "03491" "00020022" "03491" "00020023" "03491" "00020024" "03491" "00020025" "03491" "00020026" "03491" "00022416" "00318" "00022417" "00318" "00246550" "00318" "00246566" "00318" "00299436" "00198" "00376154" "00681" "00406994" "05489" "00406995" "05489" "00443723" "05489" "00443724" "05489" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00318, 00681, 03491, 05489 ## Count = 15 "{{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}}" "0000017783" "03491" "00020020" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017784" "03491" "00020021" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017785" "03491" "00020022" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017786" "03491" "00020023" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017787" "03491" "00020024" "00787" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017788" "03491" "00020025" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017789" "03491" "00020026" "00797" "Familial, autosomal recessive" "" "prenatal dystrophy, short stature, hypoplasia right thumb, microcephaly, hyperpigmentation, cafÈ-au-lait, vitiligo, hypothyreoidism" "" "" "" "" "" "" "" "" "" "" "" "0000020187" "00318" "00022416" "00798" "Familial" "" "familial breast cancer, bilateral breast cancer, male breast cancer and early onset disease" "" "" "" "" "" "" "" "" "" "" "" "0000020188" "00318" "00022416" "00798" "Familial" "52y" "see paper; T2N0M0 breast tumor" "" "" "" "" "" "" "" "" "" "" "" "0000186401" "00318" "00246550" "00643" "Unknown" "" "family history; no triple-negative breast cancer; 45y first breast cancer" "" "" "" "" "" "" "" "" "" "breast cancer" "" "0000186417" "00318" "00246566" "00643" "Unknown" "" "family history; no triple-negative breast cancer; 44y first breast cancer; 48y ovarian cancer" "" "" "" "" "" "" "" "" "" "breast cancer" "" "0000226746" "00198" "00299436" "01164" "Unknown" "" "Neoplasm by anatomical site (HP:0011793); Breast carcinoma (HP:0003002)" "" "" "" "" "" "" "" "" "" "" "" "0000271365" "00681" "00376154" "00585" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "pancreatic ductal adenocarcinoma" "" "0000333005" "05489" "00443723" "04599" "Unknown" "40" "" "" "" "" "" "" "" "" "" "" "" "" "0000333006" "05489" "00443724" "04599" "Unknown" "17" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 17 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000020017" "00020020" "1" "00787" "00006" "2011-02-10 07:17:08" "" "" "SEQ" "DNA" "" "" "0000020018" "00020021" "1" "00787" "00006" "2011-02-10 07:24:24" "" "" "SEQ" "DNA" "" "" "0000020019" "00020022" "1" "00787" "00006" "2011-02-10 07:30:47" "00787" "2011-02-22 03:51:45" "SEQ" "DNA" "" "" "0000020020" "00020023" "1" "00787" "00006" "2011-02-10 07:45:58" "" "" "SEQ" "DNA" "" "" "0000020021" "00020024" "1" "00787" "00006" "2011-02-22 04:03:20" "" "" "SEQ" "DNA" "" "" "0000020022" "00020025" "1" "00787" "00006" "2011-02-22 04:10:21" "" "" "SEQ" "DNA" "" "" "0000020023" "00020026" "1" "00797" "00787" "2012-10-15 01:30:14" "00006" "2014-10-11 14:12:12" "SEQ" "DNA" "" "" "0000022417" "00022416" "1" "00798" "00006" "2012-08-31 16:38:57" "" "" "PCR;SEQ" "DNA" "" "" "0000022418" "00022417" "1" "00798" "00006" "2012-08-31 16:38:57" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000247662" "00246550" "1" "00643" "00006" "2019-07-12 12:55:51" "" "" "SEQ" "DNA" "" "gene panel" "0000247678" "00246566" "1" "00643" "00006" "2019-07-12 12:55:51" "" "" "SEQ" "DNA" "" "gene panel" "0000300546" "00299436" "1" "01164" "01164" "2020-04-16 09:53:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000377350" "00376154" "1" "00585" "00585" "2021-06-17 14:26:27" "" "" "SEQ-NG" "DNA" "blood" "" "0000408240" "00406994" "1" "00006" "00006" "2022-04-05 15:38:44" "" "" "SEQ-NG" "DNA" "" "81-gene panel" "0000408241" "00406995" "1" "00006" "00006" "2022-04-05 15:38:44" "" "" "SEQ-NG" "DNA" "" "81-gene panel" "0000445217" "00443723" "1" "04599" "04599" "2023-12-01 06:58:13" "" "" "SEQ-NG-I" "DNA" "Blood" "TruSight Cancer Sequencing Panel" "0000445218" "00443724" "1" "04599" "04599" "2023-12-01 07:07:45" "" "" "SEQ-NG-I" "DNA" "Blood" "TruSight Cancer Sequencing Panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{geneid}}" "0000020017" "SLX4" "0000020018" "SLX4" "0000020019" "SLX4" "0000020020" "SLX4" "0000020021" "SLX4" "0000020022" "SLX4" "0000020023" "SLX4" "0000022417" "BRCA1" "0000022417" "BRCA2" "0000022417" "SLX4" "0000022418" "BRCA1" "0000022418" "BRCA2" "0000022418" "SLX4" "0000247662" "SLX4" "0000247678" "PALB2" "0000247678" "SLX4" "0000445217" "SLX4" "0000445218" "SLX4" ## 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 = 253 "{{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}}" "0000040540" "11" "59" "16" "3658682" "3658682" "del" "0" "00787" "SLX4_000001" "g.3658682del" "" "{PMID:Stoepker 2011:21240277}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3608681del" "" "VUS" "" "0000040541" "11" "99" "16" "3651054" "3651054" "del" "0" "00787" "SLX4_000002" "g.3651054del" "" "{PMID:Stoepker 2011:21240277}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3601053del" "" "pathogenic" "" "0000040542" "11" "59" "16" "3650978" "3650978" "subst" "1.22561E-5" "00787" "SLX4_000004" "g.3650978A>T" "" "{PMID:Kim 2011:21240275}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3600977A>T" "" "VUS" "" "0000040543" "11" "59" "16" "3658453" "3658453" "del" "0" "00787" "SLX4_000005" "g.3658453del" "" "{PMID:Kim 2011:21240275}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3608452del" "" "VUS" "" "0000040544" "11" "99" "16" "3651054" "3651054" "del" "0" "00787" "SLX4_000002" "g.3651054del" "" "{PMID:Stoepker 2011:21240277}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3601053del" "" "pathogenic" "" "0000040545" "11" "99" "16" "3651054" "3651054" "del" "0" "00787" "SLX4_000002" "g.3651054del" "" "{PMID:Stoepker 2011:21240277}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3601053del" "" "pathogenic" "" "0000040546" "2" "99" "16" "3650977" "3650977" "dup" "0" "00787" "SLX4_000003" "g.3650977_3650977dup" "" "{PMID:Stoepker 2011:21240277}" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Unknown" "?" "" "0" "" "" "g.3600976dupA" "" "pathogenic" "" "0000040547" "11" "99" "16" "3647698" "3647698" "subst" "0" "00797" "SLX4_000008" "g.3647698T>C" "" "Schuster 2012" "" "" "" "Unknown" "?" "" "0" "" "" "g.3597697T>C" "" "pathogenic" "" "0000040548" "21" "59" "16" "3658682" "3658682" "del" "0" "00787" "SLX4_000001" "g.3658682del" "" "{PMID:Stoepker 2011:21240277}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3608681del" "" "VUS" "" "0000040549" "21" "99" "16" "3650977" "3650977" "dup" "0" "00787" "SLX4_000003" "g.3650977_3650977dup" "" "{PMID:Stoepker 2011:21240277}" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Unknown" "?" "" "0" "" "" "g.3600976dupA" "" "pathogenic" "" "0000040550" "21" "59" "16" "3650978" "3650978" "subst" "1.22561E-5" "00787" "SLX4_000004" "g.3650978A>T" "" "{PMID:Kim 2011:21240275}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3600977A>T" "" "VUS" "" "0000040551" "21" "59" "16" "3640492" "3645381" "delins" "0" "00787" "SLX4_000006" "g.3640492_3645381delinsGG" "" "{PMID:Kim 2011:21240275}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3590491_3595380delinsGG" "" "VUS" "" "0000040552" "21" "50" "16" "3650977" "3650977" "dup" "0" "00787" "SLX4_000003" "g.3650977_3650977dup" "" "{PMID:Stoepker 2011:21240277}" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Unknown" "?" "" "0" "" "" "g.3600976dupA" "" "VUS" "" "0000040553" "21" "99" "16" "3647525" "3647525" "subst" "8.12275E-6" "00797" "SLX4_000007" "g.3647525C>T" "" "Schuster 2012" "" "" "" "Unknown" "?" "" "0" "" "" "g.3597524C>T" "" "pathogenic" "" "0000044723" "0" "30" "16" "3658545" "3658545" "subst" "0.000848662" "00798" "SLX4_000010" "g.3658545C>A" "2/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs137976282" "0" "" "" "g.3608544C>A" "" "likely benign" "" "0000044724" "0" "30" "16" "3658501" "3658501" "subst" "0.000194908" "00798" "SLX4_000011" "g.3658501T>C" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs138512851" "0" "" "" "g.3608500T>C" "" "likely benign" "" "0000044725" "0" "30" "16" "3658876" "3658876" "subst" "0.00599768" "00798" "SLX4_000012" "g.3658876G>A" "7/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs118089506" "0" "" "" "g.3608875G>A" "" "likely benign" "" "0000044726" "0" "30" "16" "3656680" "3656680" "subst" "0.0586287" "00798" "SLX4_000013" "g.3656680G>A" "67/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs74640850" "0" "" "" "g.3606679G>A" "" "likely benign" "" "0000044727" "0" "30" "16" "3656645" "3656645" "subst" "0.00137266" "00798" "SLX4_000014" "g.3656645A>G" "2/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs147826749" "0" "" "" "g.3606644A>G" "" "likely benign" "" "0000044728" "0" "30" "16" "3656625" "3656625" "subst" "0.0631635" "00798" "SLX4_000015" "g.3656625G>A" "65/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs79842542" "0" "" "" "g.3606624G>A" "" "likely benign" "" "0000044729" "0" "30" "16" "3656557" "3656557" "subst" "0.0488712" "00798" "SLX4_000016" "g.3656557G>A" "12/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs28516461" "0" "" "" "g.3606556G>A" "" "likely benign" "" "0000044730" "0" "30" "16" "3656525" "3656525" "subst" "0.0047399" "00798" "SLX4_000017" "g.3656525C>T" "9/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs138615800" "0" "" "" "g.3606524C>T" "" "likely benign" "" "0000044731" "0" "30" "16" "3656482" "3656482" "subst" "0.212329" "00798" "SLX4_000018" "g.3656482C>T" "202/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs8061528" "0" "" "" "g.3606481C>T" "" "likely benign" "" "0000044732" "0" "30" "16" "3650991" "3650991" "subst" "0.0615218" "00798" "SLX4_000019" "g.3650991T>C" "65/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs112511042" "0" "" "" "g.3600990T>C" "" "likely benign" "" "0000044733" "0" "30" "16" "3650990" "3650990" "subst" "0.00361515" "00798" "SLX4_000020" "g.3650990G>T" "2/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs115694169" "0" "" "" "g.3600989G>T" "" "likely benign" "" "0000044734" "0" "30" "16" "3650987" "3650987" "subst" "0.0614352" "00798" "SLX4_000021" "g.3650987T>C" "65/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs113490934" "0" "" "" "g.3600986T>C" "" "likely benign" "" "0000044735" "0" "30" "16" "3651144" "3651144" "subst" "0.00249393" "00798" "SLX4_000022" "g.3651144G>A" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs7198338" "0" "" "" "g.3601143G>A" "" "likely benign" "" "0000044736" "0" "30" "16" "3647692" "3647692" "subst" "0.0619434" "00798" "SLX4_000023" "g.3647692A>C" "64/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs74319927" "0" "" "" "g.3597691A>C" "" "likely benign" "" "0000044737" "0" "30" "16" "3647691" "3647691" "subst" "0.000778708" "00798" "SLX4_000024" "g.3647691T>C" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs149126845" "0" "" "" "g.3597690T>C" "" "likely benign" "" "0000044738" "0" "30" "16" "3646323" "3646323" "subst" "0.00268848" "00798" "SLX4_000025" "g.3646323G>A" "2/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs114016359" "0" "" "" "g.3596322G>A" "" "likely benign" "" "0000044739" "0" "30" "16" "3646275" "3646275" "subst" "0.00274874" "00798" "SLX4_000026" "g.3646275C>T" "2/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs144892556" "0" "" "" "g.3596274C>T" "" "likely benign" "" "0000044740" "0" "30" "16" "3645607" "3645607" "subst" "0.0637579" "00798" "SLX4_000027" "g.3645607A>G" "65/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs77985244" "0" "" "" "g.3595606A>G" "" "likely benign" "" "0000044741" "0" "30" "16" "3634861" "3634861" "subst" "0.00279377" "00798" "SLX4_000028" "g.3634861G>A" "3/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs77021998" "0" "" "" "g.3584860G>A" "" "likely benign" "" "0000044742" "0" "30" "16" "3632347" "3632347" "subst" "0.00556057" "00798" "SLX4_000029" "g.3632347T>C" "7/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs111738042" "0" "" "" "g.3582346T>C" "" "likely benign" "" "0000044743" "0" "30" "16" "3644404" "3644404" "subst" "0.0604911" "00798" "SLX4_000030" "g.3644404G>A" "66/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs75762935" "0" "" "" "g.3594403G>A" "" "likely benign" "" "0000044744" "0" "30" "16" "3643002" "3643002" "subst" "0" "00798" "SLX4_000031" "g.3643002C>T" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs139226142" "0" "" "" "g.3593001C>T" "" "likely benign" "" "0000044745" "0" "30" "16" "3641320" "3641320" "subst" "0.000421119" "00798" "SLX4_000032" "g.3641320C>G" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs73505419" "0" "" "" "g.3591319C>G" "" "likely benign" "" "0000044746" "0" "30" "16" "3641280" "3641280" "subst" "0.00124691" "00798" "SLX4_000033" "g.3641280C>T" "3/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs140600202" "0" "" "" "g.3591279C>T" "" "likely benign" "" "0000044747" "0" "30" "16" "3641030" "3641030" "subst" "0.000759508" "00798" "SLX4_000034" "g.3641030G>A" "4/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs149584080" "0" "" "" "g.3591029G>A" "" "likely benign" "" "0000044748" "0" "30" "16" "3640972" "3640972" "subst" "8.52778E-5" "00798" "SLX4_000035" "g.3640972T>C" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs146790631" "0" "" "" "g.3590971T>C" "" "likely benign" "" "0000044749" "0" "30" "16" "3640958" "3640958" "subst" "0.000324865" "00798" "SLX4_000036" "g.3640958A>C" "2/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs145137472" "0" "" "" "g.3590957A>C" "" "likely benign" "" "0000044750" "0" "30" "16" "3640853" "3640853" "subst" "0.00214423" "00798" "SLX4_000037" "g.3640853G>A" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs117707719" "0" "" "" "g.3590852G>A" "" "likely benign" "" "0000044751" "0" "30" "16" "3640815" "3640815" "subst" "0.00627229" "00798" "SLX4_000038" "g.3640815C>G" "2/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs114014006" "0" "" "" "g.3590814C>G" "" "likely benign" "" "0000044752" "0" "30" "16" "3640784" "3640785" "delins" "0" "00798" "SLX4_000039" "g.3640784_3640785delinsAT" "55/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3590783_3590784delinsAT" "" "likely benign" "" "0000044753" "0" "30" "16" "3640715" "3640715" "subst" "0.0035075" "00798" "SLX4_000040" "g.3640715G>A" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "2854_2855GC>AT" "" "Unknown" "?" "rs114472821" "0" "" "" "g.3590714G>A" "" "likely benign" "" "0000044754" "0" "30" "16" "3640620" "3640620" "subst" "4.06573E-5" "00798" "SLX4_000041" "g.3640620G>T" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs138798067" "0" "" "" "g.3590619G>T" "" "likely benign" "" "0000044755" "0" "30" "16" "3640530" "3640530" "subst" "0.00302412" "00798" "SLX4_000042" "g.3640530A>G" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs58735123" "0" "" "" "g.3590529A>G" "" "likely benign" "" "0000044756" "0" "30" "16" "3640477" "3640477" "subst" "0.0329609" "00798" "SLX4_000043" "g.3640477C>T" "9/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs76488917" "0" "" "" "g.3590476C>T" "" "likely benign" "" "0000044757" "0" "30" "16" "3640324" "3640324" "subst" "0.000548241" "00798" "SLX4_000044" "g.3640324G>A" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs183029626" "0" "" "" "g.3590323G>A" "" "likely benign" "" "0000044758" "0" "30" "16" "3640274" "3640274" "subst" "0.124777" "00798" "SLX4_000045" "g.3640274G>A" "76/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs714181" "0" "" "" "g.3590273G>A" "" "likely benign" "" "0000044759" "0" "30" "16" "3640271" "3640271" "subst" "0.00030869" "00798" "SLX4_000046" "g.3640271G>T" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs144647122" "0" "" "" "g.3590270G>T" "" "likely benign" "" "0000044760" "0" "30" "16" "3639977" "3639977" "subst" "0.0585643" "00798" "SLX4_000047" "g.3639977G>A" "68/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs3827530" "0" "" "" "g.3589976G>A" "" "likely benign" "" "0000044761" "0" "30" "16" "3639856" "3639856" "subst" "0.00719102" "00798" "SLX4_000048" "g.3639856C>T" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs77699867" "0" "" "" "g.3589855C>T" "" "likely benign" "" "0000044762" "0" "30" "16" "3639827" "3639827" "subst" "0.066015" "00798" "SLX4_000049" "g.3639827G>A" "54/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs3810813" "0" "" "" "g.3589826G>A" "" "likely benign" "" "0000044763" "0" "30" "16" "3639782" "3639782" "subst" "0.00375217" "00798" "SLX4_000050" "g.3639782G>A" "6/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs149011965" "0" "" "" "g.3589781G>A" "" "likely benign" "" "0000044764" "0" "30" "16" "3639676" "3639676" "subst" "0.00914817" "00798" "SLX4_000051" "g.3639676C>T" "2/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs77699867" "0" "" "" "g.3589675C>T" "" "likely benign" "" "0000044765" "0" "30" "16" "3639615" "3639615" "subst" "0.00184997" "00798" "SLX4_000052" "g.3639615T>C" "3/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs140051968" "0" "" "" "g.3589614T>C" "" "likely benign" "" "0000044766" "0" "30" "16" "3639378" "3639378" "subst" "0.000563135" "00798" "SLX4_000053" "g.3639378T>A" "2/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs141567438" "0" "" "" "g.3589377T>A" "" "likely benign" "" "0000044767" "0" "30" "16" "3639139" "3639139" "subst" "0.603102" "00798" "SLX4_000054" "g.3639139A>G" "448/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs3810812" "0" "" "" "g.3589138A>G" "" "likely benign" "" "0000044768" "0" "30" "16" "3639109" "3639109" "subst" "0.000158575" "00798" "SLX4_000055" "g.3639109C>A" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs139254595" "0" "" "" "g.3589108C>A" "" "likely benign" "" "0000044769" "0" "30" "16" "3639058" "3639058" "subst" "0.00714332" "00798" "SLX4_000056" "g.3639058C>T" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs78635099" "0" "" "" "g.3589057C>T" "" "likely benign" "" "0000044770" "0" "30" "16" "3632230" "3632230" "subst" "0" "00798" "SLX4_000057" "g.3632230G>A" "56/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs76661336" "0" "" "" "g.3582229G>A" "" "likely benign" "" "0000044771" "0" "30" "16" "3632335" "3632335" "subst" "0.0681305" "00798" "SLX4_000058" "g.3632335T>C" "57/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs3751839" "0" "" "" "g.3582334T>C" "" "likely benign" "" "0000044772" "0" "30" "16" "3634982" "3634982" "subst" "0" "00798" "SLX4_000059" "g.3634982A>G" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs74005837" "0" "" "" "g.3584981A>G" "" "likely benign" "" "0000044773" "0" "30" "16" "3635099" "3635099" "subst" "0" "00798" "SLX4_000060" "g.3635099G>A" "65/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs75693937" "0" "" "" "g.3585098G>A" "" "likely benign" "" "0000044774" "0" "30" "16" "3634746" "3634746" "subst" "0.101443" "00798" "SLX4_000061" "g.3634746C>A" "133/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs12933120" "0" "" "" "g.3584745C>A" "" "likely benign" "" "0000044775" "0" "30" "16" "3634691" "3634691" "subst" "0" "00798" "SLX4_000062" "g.3634691C>T" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3584690C>T" "" "likely benign" "" "0000044776" "0" "30" "16" "3634691" "3634691" "subst" "0" "00798" "SLX4_000062" "g.3634691C>T" "20/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs74762428" "0" "" "" "g.3584690C>T" "" "likely benign" "" "0000044777" "0" "30" "16" "3656779" "3656779" "subst" "0" "00798" "SLX4_000063" "g.3656779G>A" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs137869443" "0" "" "" "g.3606778G>A" "" "likely benign" "" "0000044778" "0" "30" "16" "3652340" "3652340" "subst" "0.00883884" "00798" "SLX4_000064" "g.3652340A>C" "29/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs118098382" "0" "" "" "g.3602339A>C" "" "likely benign" "" "0000044779" "0" "30" "16" "3650970" "3650970" "subst" "0.0622669" "00798" "SLX4_000065" "g.3650970G>A" "66/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs80116508" "0" "" "" "g.3600969G>A" "" "likely benign" "" "0000044780" "0" "30" "16" "3648000" "3648000" "subst" "0" "00798" "SLX4_000066" "g.3648000G>C" "65/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs59622164" "0" "" "" "g.3597999G>C" "" "likely benign" "" "0000044781" "0" "30" "16" "3647787" "3647787" "subst" "0.0683718" "00798" "SLX4_000067" "g.3647787A>G" "67/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs76350200" "0" "" "" "g.3597786A>G" "" "likely benign" "" "0000044782" "0" "30" "16" "3647740" "3647740" "subst" "0.000114255" "00798" "SLX4_000068" "g.3647740C>A" "2/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs185962726" "0" "" "" "g.3597739C>A" "" "likely benign" "" "0000044783" "0" "30" "16" "3645724" "3645724" "subst" "0.0029368" "00798" "SLX4_000069" "g.3645724C>T" "2/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs149916101" "0" "" "" "g.3595723C>T" "" "likely benign" "" "0000044784" "0" "30" "16" "3645789" "3645789" "subst" "0" "00798" "SLX4_000070" "g.3645789C>T" "14/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs180740748" "0" "" "" "g.3595788C>T" "" "likely benign" "" "0000044785" "0" "30" "16" "3645469" "3645469" "subst" "0" "00798" "SLX4_000071" "g.3645469C>G" "65/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs80186343" "0" "" "" "g.3595468C>G" "" "likely benign" "" "0000044786" "0" "30" "16" "3645583" "3645583" "subst" "0.0612013" "00798" "SLX4_000072" "g.3645583C>T" "65/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs112226642" "0" "" "" "g.3595582C>T" "" "likely benign" "" "0000044787" "0" "30" "16" "3658729" "3658729" "subst" "2.84248E-5" "00798" "SLX4_000073" "g.3658729A>G" "2/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "rs141167501" "0" "" "" "g.3608728A>G" "" "likely benign" "" "0000044788" "0" "30" "16" "3652218" "3652218" "subst" "0" "00798" "SLX4_000074" "g.3652218T>C" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3602217T>C" "" "likely benign" "" "0000044789" "0" "30" "16" "3651011" "3651011" "subst" "0" "00798" "SLX4_000075" "g.3651011G>T" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3601010G>T" "" "likely benign" "" "0000044790" "0" "30" "16" "3647893" "3647893" "subst" "0.000194973" "00798" "SLX4_000076" "g.3647893G>A" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3597892G>A" "" "likely benign" "" "0000044791" "0" "30" "16" "3647550" "3647550" "subst" "0" "00798" "SLX4_000077" "g.3647550C>T" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3597549C>T" "" "likely benign" "" "0000044792" "0" "30" "16" "3647546" "3647546" "subst" "0" "00798" "SLX4_000078" "g.3647546C>T" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3597545C>T" "" "likely benign" "" "0000044793" "0" "30" "16" "3647422" "3647422" "subst" "8.32114E-5" "00798" "SLX4_000079" "g.3647422C>T" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3597421C>T" "" "likely benign" "" "0000044794" "0" "30" "16" "3646376" "3646376" "subst" "0" "00798" "SLX4_000080" "g.3646376C>T" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3596375C>T" "" "likely benign" "" "0000044795" "0" "30" "16" "3646342" "3646342" "subst" "0" "00798" "SLX4_000081" "g.3646342A>G" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3596341A>G" "" "likely benign" "" "0000044796" "0" "30" "16" "3646233" "3646233" "subst" "0" "00798" "SLX4_000082" "g.3646233G>A" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3596232G>A" "" "likely benign" "" "0000044797" "0" "30" "16" "3640461" "3640461" "subst" "0.00101952" "00798" "SLX4_000083" "g.3640461G>A" "2/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3590460G>A" "" "likely benign" "" "0000044798" "0" "30" "16" "3639779" "3639779" "subst" "0" "00798" "SLX4_000084" "g.3639779A>C" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3589778A>C" "" "likely benign" "" "0000044799" "0" "30" "16" "3632241" "3632241" "subst" "0" "00798" "SLX4_000085" "g.3632241G>A" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Unknown" "?" "" "0" "" "" "g.3582240G>A" "" "likely benign" "" "0000044800" "0" "30" "16" "3633454" "3633454" "subst" "0" "00798" "SLX4_000086" "g.3633454G>A" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3583453G>A" "" "likely benign" "" "0000044801" "0" "30" "16" "3633364" "3633364" "subst" "8.13378E-6" "00798" "SLX4_000087" "g.3633364G>A" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3583363G>A" "" "likely benign" "" "0000044802" "0" "30" "16" "3633170" "3633170" "subst" "8.1211E-6" "00798" "SLX4_000088" "g.3633170G>A" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3583169G>A" "" "likely benign" "" "0000044803" "0" "30" "16" "3632408" "3632408" "subst" "4.49035E-5" "00798" "SLX4_000089" "g.3632408G>A" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3582407G>A" "" "likely benign" "" "0000044804" "0" "30" "16" "3641347" "3641359" "del" "0" "00798" "SLX4_000090" "g.3641347_3641359del" "2/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3591346_3591358del" "" "likely benign" "" "0000044805" "0" "30" "16" "3641011" "3641011" "subst" "0.000373668" "00798" "SLX4_000091" "g.3641011G>A" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "2328-35delCCCATCTCCACGC" "" "Unknown" "?" "" "0" "" "" "g.3591010G>A" "" "likely benign" "" "0000044806" "0" "30" "16" "3640690" "3640690" "subst" "3.25214E-5" "00798" "SLX4_000092" "g.3640690G>A" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3590689G>A" "" "likely benign" "" "0000044807" "0" "30" "16" "3639367" "3639367" "subst" "1.73307E-5" "00798" "SLX4_000093" "g.3639367G>A" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3589366G>A" "" "likely benign" "" "0000044808" "0" "30" "16" "3639229" "3639229" "subst" "4.0812E-5" "00798" "SLX4_000094" "g.3639229C>T" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3589228C>T" "" "likely benign" "" "0000044809" "0" "30" "16" "3639212" "3639212" "subst" "1.62604E-5" "00798" "SLX4_000095" "g.3639212G>C" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3589211G>C" "" "likely benign" "" "0000044810" "0" "30" "16" "3635082" "3635082" "subst" "0" "00798" "SLX4_000096" "g.3635082T>C" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3585081T>C" "" "likely benign" "" "0000044811" "0" "30" "16" "3635106" "3635106" "subst" "0" "00798" "SLX4_000097" "g.3635106C>T" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3585105C>T" "" "likely benign" "" "0000044812" "0" "30" "16" "3635139" "3635139" "subst" "0" "00798" "SLX4_000098" "g.3635139G>A" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3585138G>A" "" "likely benign" "" "0000044813" "0" "30" "16" "3634739" "3634739" "subst" "0" "00798" "SLX4_000099" "g.3634739C>T" "2/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3584738C>T" "" "likely benign" "" "0000044814" "0" "30" "16" "3634680" "3634680" "subst" "0" "00798" "SLX4_000100" "g.3634680G>C" "2/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3584679G>C" "" "likely benign" "" "0000044815" "0" "30" "16" "3652090" "3652090" "subst" "0" "00798" "SLX4_000101" "g.3652090G>A" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3602089G>A" "" "likely benign" "" "0000044816" "0" "30" "16" "3650786" "3650786" "subst" "0" "00798" "SLX4_000102" "g.3650786G>A" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3600785G>A" "" "likely benign" "" "0000044817" "0" "30" "16" "3646027" "3646027" "subst" "0" "00798" "SLX4_000103" "g.3646027C>T" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3596026C>T" "" "likely benign" "" "0000044818" "0" "30" "16" "3646095" "3646095" "subst" "0" "00798" "SLX4_000104" "g.3646095G>A" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3596094G>A" "" "likely benign" "" "0000044819" "0" "30" "16" "3645800" "3645800" "subst" "0" "00798" "SLX4_000105" "g.3645800A>C" "5/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3595799A>C" "" "likely benign" "" "0000044820" "0" "30" "16" "3645816" "3645816" "subst" "0" "00798" "SLX4_000106" "g.3645816G>A" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3595815G>A" "" "likely benign" "" "0000044821" "0" "30" "16" "3646149" "3646149" "subst" "0" "00798" "SLX4_000107" "g.3646149C>T" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Unknown" "?" "" "0" "" "" "" "" "likely benign" "" "0000044822" "0" "30" "16" "3645476" "3645476" "subst" "0" "00798" "SLX4_000108" "g.3645476G>C" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3595475G>C" "" "likely benign" "" "0000044823" "0" "90" "16" "3645604" "3645604" "subst" "0" "00798" "SLX4_000109" "g.3645604A>T" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3595603A>T" "" "pathogenic" "" "0000044824" "0" "30" "16" "3644628" "3644628" "subst" "0.000244952" "00798" "SLX4_000110" "g.3644628C>T" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "" "Unknown" "?" "" "0" "" "" "g.3594627C>T" "" "likely benign" "" "0000044825" "0" "90" "16" "3645604" "3645604" "subst" "0" "00798" "SLX4_000109" "g.3645604A>T" "1/729 cases" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "not in 1302 control chromosomes; RNA affected by NMD" "Unknown" "?" "" "0" "" "" "g.3595603A>T" "" "pathogenic" "" "0000044826" "0" "10" "16" "3632408" "3632408" "subst" "4.49035E-5" "00006" "SLX4_000089" "g.3632408G>A" "" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "expression cloning Slx4-deficient MEFs mitomycin C resistant" "Not applicable" "-" "" "0" "" "" "g.3582407G>A" "" "benign" "" "0000044827" "0" "10" "16" "3651011" "3651011" "subst" "0" "00006" "SLX4_000075" "g.3651011G>T" "" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "expression cloning Slx4-deficient MEFs mitomycin C resistant" "Not applicable" "-" "" "0" "" "" "g.3601010G>T" "" "benign" "" "0000044828" "0" "10" "16" "3641280" "3641280" "subst" "0.00124691" "00006" "SLX4_000033" "g.3641280C>T" "" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "expression cloning Slx4-deficient MEFs mitomycin C resistant" "Not applicable" "-" "rs140600202" "0" "" "" "g.3591279C>T" "" "benign" "" "0000044829" "0" "10" "16" "3634861" "3634861" "subst" "0.00279377" "00006" "SLX4_000028" "g.3634861G>A" "" "{PMID:Bakker 2013:22911665}, {DOI:Bakker 2013:10.1002/humu.22206}" "" "" "expression cloning Slx4-deficient MEFs mitomycin C resistant" "Not applicable" "-" "rs77021998" "0" "" "" "g.3584860G>A" "" "benign" "" "0000248682" "0" "10" "16" "3639139" "3639139" "subst" "0.603102" "02325" "SLX4_000054" "g.3639139A>G" "" "" "" "SLX4(NM_032444.4):c.4500T>C (p.N1500=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3589138A>G" "" "benign" "" "0000250319" "0" "30" "16" "3658627" "3658627" "subst" "0.000434493" "02329" "SLX4_000122" "g.3658627A>G" "" "" "" "SLX4(NM_032444.2):c.339T>C (p.S113=), SLX4(NM_032444.4):c.339T>C (p.S113=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3608626A>G" "" "likely benign" "" "0000255123" "0" "30" "16" "3656645" "3656645" "subst" "0.00137266" "01943" "SLX4_000014" "g.3656645A>G" "" "" "" "SLX4(NM_032444.2):c.590T>C (p.V197A), SLX4(NM_032444.4):c.590T>C (p.(Val197Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3606644A>G" "" "likely benign" "" "0000256257" "0" "50" "16" "3647648" "3647648" "subst" "5.28404E-5" "01943" "SLX4_000118" "g.3647648A>G" "" "" "" "SLX4(NM_032444.2):c.1415T>C (p.L472S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3597647A>G" "" "VUS" "" "0000298375" "0" "30" "16" "3639378" "3639378" "subst" "0.000563135" "02325" "SLX4_000053" "g.3639378T>A" "" "" "" "SLX4(NM_032444.4):c.4261A>T (p.I1421F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3589377T>A" "" "likely benign" "" "0000299561" "0" "10" "16" "3650990" "3650990" "subst" "0.00361515" "02329" "SLX4_000020" "g.3650990G>T" "" "" "" "SLX4(NM_032444.2):c.1153C>A (p.(Pro385Thr), p.P385T), SLX4(NM_032444.4):c.1153C>A (p.P385T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3600989G>T" "" "benign" "" "0000299562" "0" "30" "16" "3647840" "3647840" "subst" "8.12955E-6" "02329" "SLX4_000120" "g.3647840T>G" "" "" "" "SLX4(NM_032444.4):c.1324A>C (p.R442=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3597839T>G" "" "likely benign" "" "0000299563" "0" "30" "16" "3647839" "3647839" "subst" "8.13021E-6" "02329" "SLX4_000119" "g.3647839C>G" "" "" "" "SLX4(NM_032444.4):c.1325G>C (p.R442T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3597838C>G" "" "likely benign" "" "0000299564" "0" "30" "16" "3647390" "3647390" "subst" "0" "02329" "SLX4_000116" "g.3647390C>T" "" "" "" "SLX4(NM_032444.4):c.1673G>A (p.R558Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3597389C>T" "" "likely benign" "" "0000299565" "0" "90" "16" "3646382" "3646382" "subst" "0" "02329" "SLX4_000115" "g.3646382C>A" "" "" "" "SLX4(NM_032444.4):c.1696G>T (p.E566*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3596381C>A" "" "pathogenic" "" "0000299566" "0" "10" "16" "3646323" "3646323" "subst" "0.00268848" "02329" "SLX4_000025" "g.3646323G>A" "" "" "" "SLX4(NM_032444.2):c.1755C>T (p.P585=), SLX4(NM_032444.4):c.1755C>T (p.P585=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3596322G>A" "" "benign" "" "0000299567" "0" "10" "16" "3646275" "3646275" "subst" "0.00274874" "02329" "SLX4_000026" "g.3646275C>T" "" "" "" "SLX4(NM_032444.2):c.1803G>A (p.S601=), SLX4(NM_032444.4):c.1803G>A (p.S601=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3596274C>T" "" "benign" "" "0000299568" "0" "10" "16" "3640815" "3640815" "subst" "0.00627229" "02329" "SLX4_000038" "g.3640815C>G" "" "" "" "SLX4(NM_032444.2):c.2824G>C (p.(Glu942Gln)), SLX4(NM_032444.4):c.2824G>C (p.E942Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3590814C>G" "" "benign" "" "0000299569" "0" "10" "16" "3640715" "3640715" "subst" "0.0035075" "02329" "SLX4_000040" "g.3640715G>A" "" "" "" "SLX4(NM_032444.2):c.2924C>T (p.(Pro975Leu), p.P975L), SLX4(NM_032444.4):c.2924C>T (p.P975L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3590714G>A" "" "benign" "" "0000299570" "0" "30" "16" "3658631" "3658631" "subst" "2.03037E-5" "02329" "SLX4_000123" "g.3658631G>A" "" "" "" "SLX4(NM_032444.2):c.335C>T (p.P112L), SLX4(NM_032444.4):c.335C>T (p.P112L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3608630G>A" "" "likely benign" "" "0000299571" "0" "30" "16" "3640271" "3640271" "subst" "0.00030869" "02329" "SLX4_000046" "g.3640271G>T" "" "" "" "SLX4(NM_032444.4):c.3368C>A (p.S1123Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3590270G>T" "" "likely benign" "" "0000299572" "0" "30" "16" "3640269" "3640269" "subst" "0.000113729" "02329" "SLX4_000112" "g.3640269T>C" "" "" "" "SLX4(NM_032444.4):c.3370A>G (p.I1124V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3590268T>C" "" "likely benign" "" "0000299573" "0" "10" "16" "3639676" "3639676" "subst" "0.00914817" "02329" "SLX4_000051" "g.3639676C>T" "" "" "" "SLX4(NM_032444.4):c.3963G>A (p.(Pro1321=), p.P1321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3589675C>T" "" "benign" "" "0000299574" "0" "30" "16" "3639109" "3639109" "subst" "0.000158575" "02329" "SLX4_000055" "g.3639109C>A" "" "" "" "SLX4(NM_032444.4):c.4530G>T (p.L1510=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3589108C>A" "" "likely benign" "" "0000299575" "0" "10" "16" "3639058" "3639058" "subst" "0.00714332" "02329" "SLX4_000056" "g.3639058C>T" "" "" "" "SLX4(NM_032444.4):c.4581G>A (p.P1527=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3589057C>T" "" "benign" "" "0000299576" "0" "10" "16" "3656525" "3656525" "subst" "0.0047399" "02329" "SLX4_000017" "g.3656525C>T" "" "" "" "SLX4(NM_032444.2):c.710G>A (p.R237Q, p.(Arg237Gln)), SLX4(NM_032444.4):c.710G>A (p.R237Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3606524C>T" "" "benign" "" "0000299577" "0" "30" "16" "3656493" "3656493" "subst" "0.000289758" "02329" "SLX4_000121" "g.3656493C>T" "" "" "" "SLX4(NM_032444.4):c.742G>A (p.E248K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3606492C>T" "" "likely benign" "" "0000299578" "0" "30" "16" "3658876" "3658876" "subst" "0.00599768" "02329" "SLX4_000012" "g.3658876G>A" "" "" "" "SLX4(NM_032444.4):c.90C>T (p.(Ser30=), p.S30=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3608875G>A" "" "likely benign" "" "0000308544" "0" "70" "16" "3645623" "3645623" "del" "0" "01943" "SLX4_000114" "g.3645623del" "" "" "" "SLX4(NM_032444.2):c.1996delA (p.R666Gfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3595622del" "" "likely pathogenic" "" "0000308545" "0" "30" "16" "3642737" "3642737" "subst" "0.00051336" "01943" "SLX4_000113" "g.3642737G>C" "" "" "" "SLX4(NM_032444.2):c.2290C>G (p.P764A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3592736G>C" "" "likely benign" "" "0000308546" "0" "10" "16" "3640853" "3640853" "subst" "0.00214423" "01943" "SLX4_000037" "g.3640853G>A" "" "" "" "SLX4(NM_032444.2):c.2786C>T (p.P929L, p.(Pro929Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3590852G>A" "" "benign" "" "0000308547" "0" "30" "16" "3658631" "3658631" "subst" "2.03037E-5" "01943" "SLX4_000123" "g.3658631G>A" "" "" "" "SLX4(NM_032444.2):c.335C>T (p.P112L), SLX4(NM_032444.4):c.335C>T (p.P112L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3608630G>A" "" "likely benign" "" "0000308548" "0" "30" "16" "3639782" "3639782" "subst" "0.00375217" "01943" "SLX4_000050" "g.3639782G>A" "" "" "" "SLX4(NM_032444.2):c.3857C>T (p.A1286V, p.(Ala1286Val)), SLX4(NM_032444.4):c.3857C>T (p.A1286V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3589781G>A" "" "likely benign" "" "0000308549" "0" "30" "16" "3658501" "3658501" "subst" "0.000194908" "01943" "SLX4_000011" "g.3658501T>C" "" "" "" "SLX4(NM_032444.2):c.465A>G (p.E155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3608500T>C" "" "likely benign" "" "0000308550" "0" "30" "16" "3632349" "3632349" "subst" "4.10145E-6" "01943" "SLX4_000111" "g.3632349C>T" "" "" "" "SLX4(NM_032444.2):c.5499G>A (p.R1833=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3582348C>T" "" "likely benign" "" "0000324520" "0" "30" "16" "3632347" "3632347" "subst" "0.00556057" "01804" "SLX4_000029" "g.3632347T>C" "" "" "" "SLX4(NM_032444.2):c.5501A>G (p.N1834S, p.(Asn1834Ser)), SLX4(NM_032444.4):c.5501A>G (p.N1834S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3582346T>C" "" "likely benign" "" "0000324521" "0" "30" "16" "3640715" "3640715" "subst" "0.0035075" "01804" "SLX4_000040" "g.3640715G>A" "" "" "" "SLX4(NM_032444.2):c.2924C>T (p.(Pro975Leu), p.P975L), SLX4(NM_032444.4):c.2924C>T (p.P975L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3590714G>A" "" "likely benign" "" "0000324522" "0" "50" "16" "3647637" "3647637" "subst" "0" "01804" "SLX4_000117" "g.3647637A>G" "" "" "" "SLX4(NM_032444.2):c.1426T>C (p.(Ser476Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3597636A>G" "" "VUS" "" "0000324523" "0" "30" "16" "3650990" "3650990" "subst" "0.00361515" "01804" "SLX4_000020" "g.3650990G>T" "" "" "" "SLX4(NM_032444.2):c.1153C>A (p.(Pro385Thr), p.P385T), SLX4(NM_032444.4):c.1153C>A (p.P385T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3600989G>T" "" "likely benign" "" "0000500508" "0" "90" "16" "3639549" "3639550" "del" "2.85295E-5" "00643" "SLX4_000124" "g.3639549_3639550del" "" "{PMID:Fostira 2020:31300551}" "" "4089_4090delAG" "" "Germline" "" "" "0" "" "" "g.3589548_3589549del" "" "pathogenic" "" "0000500532" "0" "90" "16" "3639549" "3639550" "del" "2.85295E-5" "00643" "SLX4_000124" "g.3639549_3639550del" "" "{PMID:Fostira 2020:31300551}" "" "4089_4090delAG" "" "Germline" "" "" "0" "" "" "g.3589548_3589549del" "" "pathogenic" "" "0000558088" "0" "30" "16" "3632347" "3632347" "subst" "0.00556057" "01943" "SLX4_000029" "g.3632347T>C" "" "" "" "SLX4(NM_032444.2):c.5501A>G (p.N1834S, p.(Asn1834Ser)), SLX4(NM_032444.4):c.5501A>G (p.N1834S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3582346T>C" "" "likely benign" "" "0000558089" "0" "30" "16" "3632391" "3632391" "subst" "4.0785E-6" "01943" "CLUAP1_000006" "g.3632391C>T" "" "" "" "SLX4(NM_032444.2):c.5457G>A (p.Q1819=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3582390C>T" "" "likely benign" "" "0000558090" "0" "10" "16" "3632567" "3632567" "subst" "0.0018071" "01943" "SLX4_000125" "g.3632567G>A" "" "" "" "SLX4(NM_032444.2):c.5281C>T (p.R1761C), SLX4(NM_032444.4):c.5281C>T (p.R1761C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3582566G>A" "" "benign" "" "0000558092" "0" "30" "16" "3634861" "3634861" "subst" "0.00279377" "01804" "SLX4_000028" "g.3634861G>A" "" "" "" "SLX4(NM_032444.2):c.4648C>T (p.R1550W, p.(Arg1550Trp)), SLX4(NM_032444.4):c.4648C>T (p.R1550W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3584860G>A" "" "likely benign" "" "0000558094" "0" "30" "16" "3639103" "3639103" "subst" "0" "01943" "SLX4_000128" "g.3639103G>A" "" "" "" "SLX4(NM_032444.2):c.4536C>T (p.D1512=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3589102G>A" "" "likely benign" "" "0000558095" "0" "30" "16" "3639145" "3639145" "subst" "0.00039427" "01943" "SLX4_000129" "g.3639145C>T" "" "" "" "SLX4(NM_032444.2):c.4494G>A (p.L1498=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3589144C>T" "" "likely benign" "" "0000558096" "0" "30" "16" "3639398" "3639398" "subst" "0" "01943" "SLX4_000130" "g.3639398G>T" "" "" "" "SLX4(NM_032444.2):c.4241C>A (p.P1414Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3589397G>T" "" "likely benign" "" "0000558097" "0" "30" "16" "3639473" "3639473" "subst" "1.22999E-5" "01943" "SLX4_000131" "g.3639473G>A" "" "" "" "SLX4(NM_032444.2):c.4166C>T (p.A1389V, p.(Ala1389Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3589472G>A" "" "likely benign" "" "0000558098" "0" "30" "16" "3639657" "3639657" "subst" "1.21918E-5" "01804" "SLX4_000132" "g.3639657C>T" "" "" "" "SLX4(NM_032444.2):c.3982G>A (p.(Val1328Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3589656C>T" "" "likely benign" "" "0000558100" "0" "30" "16" "3639782" "3639782" "subst" "0.00375217" "01804" "SLX4_000050" "g.3639782G>A" "" "" "" "SLX4(NM_032444.2):c.3857C>T (p.A1286V, p.(Ala1286Val)), SLX4(NM_032444.4):c.3857C>T (p.A1286V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3589781G>A" "" "likely benign" "" "0000558103" "0" "30" "16" "3640482" "3640482" "subst" "0" "01804" "SLX4_000136" "g.3640482C>A" "" "" "" "SLX4(NM_032444.2):c.3157G>T (p.(Gly1053Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3590481C>A" "" "likely benign" "" "0000558104" "0" "30" "16" "3640815" "3640815" "subst" "0.00627229" "01804" "SLX4_000038" "g.3640815C>G" "" "" "" "SLX4(NM_032444.2):c.2824G>C (p.(Glu942Gln)), SLX4(NM_032444.4):c.2824G>C (p.E942Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3590814C>G" "" "likely benign" "" "0000558105" "0" "50" "16" "3641280" "3641280" "subst" "0.00124691" "01943" "SLX4_000033" "g.3641280C>T" "" "" "" "SLX4(NM_032444.2):c.2359G>A (p.E787K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3591279C>T" "" "VUS" "" "0000558106" "0" "30" "16" "3642837" "3642837" "subst" "0" "01804" "SLX4_000137" "g.3642837C>G" "" "" "" "SLX4(NM_032444.2):c.2190G>C (p.(Glu730Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3592836C>G" "" "likely benign" "" "0000558107" "0" "30" "16" "3644455" "3644455" "subst" "0" "01943" "SLX4_000138" "g.3644455T>C" "" "" "" "SLX4(NM_032444.2):c.2159A>G (p.Y720C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3594454T>C" "" "likely benign" "" "0000558111" "0" "10" "16" "3656525" "3656525" "subst" "0.0047399" "01943" "SLX4_000017" "g.3656525C>T" "" "" "" "SLX4(NM_032444.2):c.710G>A (p.R237Q, p.(Arg237Gln)), SLX4(NM_032444.4):c.710G>A (p.R237Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3606524C>T" "" "benign" "" "0000558112" "0" "10" "16" "3656525" "3656525" "subst" "0.0047399" "01804" "SLX4_000017" "g.3656525C>T" "" "" "" "SLX4(NM_032444.2):c.710G>A (p.R237Q, p.(Arg237Gln)), SLX4(NM_032444.4):c.710G>A (p.R237Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3606524C>T" "" "benign" "" "0000615967" "0" "30" "16" "3632589" "3632589" "subst" "0.0023846" "01804" "SLX4_000140" "g.3632589G>A" "" "" "" "SLX4(NM_032444.2):c.5259C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3582588G>A" "" "likely benign" "" "0000615968" "0" "30" "16" "3633195" "3633195" "subst" "8.1211E-6" "01804" "SLX4_000141" "g.3633195C>T" "" "" "" "SLX4(NM_032444.2):c.5056G>A (p.(Ala1686Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3583194C>T" "" "likely benign" "" "0000615969" "0" "50" "16" "3634797" "3634797" "subst" "2.03031E-5" "01943" "SLX4_000142" "g.3634797G>A" "" "" "" "SLX4(NM_032444.2):c.4712C>T (p.T1571M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3584796G>A" "" "VUS" "" "0000615970" "0" "30" "16" "3640853" "3640853" "subst" "0.00214423" "01804" "SLX4_000037" "g.3640853G>A" "" "" "" "SLX4(NM_032444.2):c.2786C>T (p.P929L, p.(Pro929Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3590852G>A" "" "likely benign" "" "0000615971" "0" "50" "16" "3642791" "3642791" "subst" "4.07223E-5" "01943" "SLX4_000144" "g.3642791C>T" "" "" "" "SLX4(NM_032444.2):c.2236G>A (p.E746K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3592790C>T" "" "VUS" "" "0000623454" "0" "30" "16" "3640664" "3640664" "subst" "0.000536751" "01943" "SLX4_000143" "g.3640664C>T" "" "" "" "SLX4(NM_032444.2):c.2975G>A (p.G992E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3590663C>T" "" "likely benign" "" "0000623455" "0" "30" "16" "3658627" "3658627" "subst" "0.000434493" "01943" "SLX4_000122" "g.3658627A>G" "" "" "" "SLX4(NM_032444.2):c.339T>C (p.S113=), SLX4(NM_032444.4):c.339T>C (p.S113=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3608626A>G" "" "likely benign" "" "0000657838" "0" "50" "16" "3632444" "3632444" "subst" "0.000232714" "01943" "SLX4_000145" "g.3632444C>T" "" "" "" "SLX4(NM_032444.2):c.5404G>A (p.D1802N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3582443C>T" "" "VUS" "" "0000657839" "0" "30" "16" "3639145" "3639145" "subst" "0.00039427" "02327" "SLX4_000129" "g.3639145C>T" "" "" "" "SLX4(NM_032444.2):c.4494G>A (p.L1498=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3589144C>T" "" "likely benign" "" "0000663258" "0" "70" "16" "3647600" "3647600" "del" "0" "01164" "SLX4_000146" "g.3647600del" "" "" "" "" "ACMG grading: PVS1,PM2; BC at age 35y, rezidiv at age 45y and 51y (all triple neg), mother tyroid cancer, no path variant in 11-gene BC panel" "Germline" "" "" "0" "" "" "g.3597599del" "" "likely pathogenic" "ACMG" "0000692065" "0" "30" "16" "3644603" "3644603" "subst" "2.84523E-5" "01943" "SLX4_000148" "g.3644603G>A" "" "" "" "SLX4(NM_032444.2):c.2014-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725768" "0" "30" "16" "3634861" "3634861" "subst" "0.00279377" "01943" "SLX4_000028" "g.3634861G>A" "" "" "" "SLX4(NM_032444.2):c.4648C>T (p.R1550W, p.(Arg1550Trp)), SLX4(NM_032444.4):c.4648C>T (p.R1550W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725769" "0" "50" "16" "3658545" "3658545" "subst" "0.000848662" "01943" "SLX4_000010" "g.3658545C>A" "" "" "" "SLX4(NM_032444.2):c.421G>T (p.G141W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000789665" "0" "70" "16" "3639250" "3639260" "del" "0" "00585" "SLX4_000149" "g.3639250_3639260del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3589247_3589257del" "" "likely pathogenic" "ACMG" "0000807381" "0" "30" "16" "3632559" "3632559" "subst" "4.06788E-6" "02326" "SLX4_000150" "g.3632559C>T" "" "" "" "SLX4(NM_032444.2):c.5289G>A (p.K1763=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807382" "0" "10" "16" "3640477" "3640477" "subst" "0.0329609" "01804" "SLX4_000043" "g.3640477C>T" "" "" "" "SLX4(NM_032444.2):c.3162G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000807383" "0" "30" "16" "3656471" "3656471" "subst" "8.17962E-6" "01943" "SLX4_000151" "g.3656471A>G" "" "" "" "SLX4(NM_032444.2):c.760+4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000845117" "0" "50" "16" "3640054" "3640056" "del" "0.000605209" "00006" "SLX4_000153" "g.3640054_3640056del" ">1/309 cases" "{PMID:Jiang 2022:33563768}" "" "3583_3585delATT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.3590053_3590055del" "" "VUS" "" "0000845118" "0" "50" "16" "3633395" "3633395" "subst" "0.000122032" "00006" "SLX4_000152" "g.3633395G>A" ">1/309 cases" "{PMID:Jiang 2022:33563768}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.3583394G>A" "" "VUS" "" "0000854497" "0" "10" "16" "3632567" "3632567" "subst" "0.0018071" "02329" "SLX4_000125" "g.3632567G>A" "" "" "" "SLX4(NM_032444.2):c.5281C>T (p.R1761C), SLX4(NM_032444.4):c.5281C>T (p.R1761C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000854498" "0" "10" "16" "3639782" "3639782" "subst" "0.00375217" "02329" "SLX4_000050" "g.3639782G>A" "" "" "" "SLX4(NM_032444.2):c.3857C>T (p.A1286V, p.(Ala1286Val)), SLX4(NM_032444.4):c.3857C>T (p.A1286V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000854499" "0" "30" "16" "3642722" "3642722" "subst" "0.000983023" "01943" "SLX4_000156" "g.3642722C>G" "" "" "" "SLX4(NM_032444.2):c.2305G>C (p.E769Q, p.(Glu769Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854500" "0" "50" "16" "3652224" "3652224" "subst" "6.90338E-5" "01943" "SLX4_000157" "g.3652224G>A" "" "" "" "SLX4(NM_032444.2):c.845C>T (p.S282L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864780" "0" "10" "16" "3633105" "3633105" "subst" "0.00216877" "02329" "SLX4_000126" "g.3633105A>T" "" "" "" "SLX4(NM_032444.2):c.5146T>A (p.S1716T), SLX4(NM_032444.4):c.5146T>A (p.S1716T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864781" "0" "10" "16" "3639039" "3639039" "subst" "0.00365563" "02329" "SLX4_000127" "g.3639039C>T" "" "" "" "SLX4(NM_032444.2):c.4600G>A (p.G1534S), SLX4(NM_032444.4):c.4600G>A (p.G1534S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864782" "0" "10" "16" "3639301" "3639301" "subst" "0.00232897" "02329" "SLX4_000154" "g.3639301G>A" "" "" "" "SLX4(NM_032444.2):c.4338C>T (p.T1446=), SLX4(NM_032444.4):c.4338C>T (p.T1446=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864783" "0" "30" "16" "3640577" "3640577" "subst" "3.65824E-5" "01943" "SLX4_000155" "g.3640577C>G" "" "" "" "SLX4(NM_032444.2):c.3062G>C (p.R1021P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864784" "0" "30" "16" "3640715" "3640715" "subst" "0.0035075" "02326" "SLX4_000040" "g.3640715G>A" "" "" "" "SLX4(NM_032444.2):c.2924C>T (p.(Pro975Leu), p.P975L), SLX4(NM_032444.4):c.2924C>T (p.P975L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864785" "0" "30" "16" "3642722" "3642722" "subst" "0.000983023" "02326" "SLX4_000156" "g.3642722C>G" "" "" "" "SLX4(NM_032444.2):c.2305G>C (p.E769Q, p.(Glu769Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864786" "0" "10" "16" "3646180" "3646180" "subst" "0.00180538" "02329" "SLX4_000139" "g.3646180C>T" "" "" "" "SLX4(NM_032444.2):c.1898G>A (p.G633D), SLX4(NM_032444.4):c.1898G>A (p.G633D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864787" "0" "30" "16" "3646275" "3646275" "subst" "0.00274874" "02326" "SLX4_000026" "g.3646275C>T" "" "" "" "SLX4(NM_032444.2):c.1803G>A (p.S601=), SLX4(NM_032444.4):c.1803G>A (p.S601=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864788" "0" "30" "16" "3646323" "3646323" "subst" "0.00268848" "02326" "SLX4_000025" "g.3646323G>A" "" "" "" "SLX4(NM_032444.2):c.1755C>T (p.P585=), SLX4(NM_032444.4):c.1755C>T (p.P585=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864789" "0" "30" "16" "3650990" "3650990" "subst" "0.00361515" "02326" "SLX4_000020" "g.3650990G>T" "" "" "" "SLX4(NM_032444.2):c.1153C>A (p.(Pro385Thr), p.P385T), SLX4(NM_032444.4):c.1153C>A (p.P385T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892960" "0" "30" "16" "3640394" "3640394" "subst" "0.00131973" "02326" "SLX4_000158" "g.3640394T>C" "" "" "" "SLX4(NM_032444.2):c.3245A>G (p.Q1082R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892961" "0" "30" "16" "3652147" "3652147" "subst" "2.84262E-5" "02326" "SLX4_000159" "g.3652147C>T" "" "" "" "SLX4(NM_032444.2):c.922G>A (p.V308M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914617" "0" "10" "16" "3633105" "3633105" "subst" "0.00216877" "02326" "SLX4_000126" "g.3633105A>T" "" "" "" "SLX4(NM_032444.2):c.5146T>A (p.S1716T), SLX4(NM_032444.4):c.5146T>A (p.S1716T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914618" "0" "10" "16" "3639039" "3639039" "subst" "0.00365563" "02326" "SLX4_000127" "g.3639039C>T" "" "" "" "SLX4(NM_032444.2):c.4600G>A (p.G1534S), SLX4(NM_032444.4):c.4600G>A (p.G1534S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914619" "0" "10" "16" "3639301" "3639301" "subst" "0.00232897" "02326" "SLX4_000154" "g.3639301G>A" "" "" "" "SLX4(NM_032444.2):c.4338C>T (p.T1446=), SLX4(NM_032444.4):c.4338C>T (p.T1446=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914620" "0" "30" "16" "3640324" "3640324" "subst" "0.000548241" "02329" "SLX4_000044" "g.3640324G>A" "" "" "" "SLX4(NM_032444.4):c.3315C>T (p.S1105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914621" "0" "30" "16" "3640664" "3640664" "subst" "0.000536751" "02326" "SLX4_000143" "g.3640664C>T" "" "" "" "SLX4(NM_032444.2):c.2975G>A (p.G992E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914622" "0" "10" "16" "3646180" "3646180" "subst" "0.00180538" "02326" "SLX4_000139" "g.3646180C>T" "" "" "" "SLX4(NM_032444.2):c.1898G>A (p.G633D), SLX4(NM_032444.4):c.1898G>A (p.G633D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000926274" "0" "30" "16" "3639782" "3639782" "subst" "0.00375217" "02326" "SLX4_000050" "g.3639782G>A" "" "" "" "SLX4(NM_032444.2):c.3857C>T (p.A1286V, p.(Ala1286Val)), SLX4(NM_032444.4):c.3857C>T (p.A1286V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926275" "0" "10" "16" "3640274" "3640274" "subst" "0.124777" "02325" "SLX4_000045" "g.3640274G>A" "" "" "" "SLX4(NM_032444.4):c.3365C>T (p.P1122L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000926276" "0" "30" "16" "3647426" "3647426" "subst" "0.000954223" "02325" "SLX4_000160" "g.3647426T>C" "" "" "" "SLX4(NM_032444.4):c.1637A>G (p.Y546C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950655" "0" "30" "16" "3656665" "3656665" "subst" "2.43677E-5" "02326" "SLX4_000163" "g.3656665A>C" "" "" "" "SLX4(NM_032444.2):c.570T>G (p.P190=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000952118" "0" "90" "16" "3634770" "3634770" "subst" "0" "04599" "SLX4_000161" "g.3634770C>A" "" "" "" "Arg1580_Glu13splice" "" "Germline" "" "" "0" "" "" "g.3584769C>A" "" "VUS" "ACMG" "0000952119" "0" "90" "16" "3646355" "3646355" "subst" "0" "04599" "SLX4_000162" "g.3646355C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3596354C>A" "" "likely pathogenic" "ACMG" "0000981877" "0" "50" "16" "3632696" "3632696" "subst" "0" "01804" "SLX4_000165" "g.3632696T>G" "" "" "" "SLX4(NM_032444.4):c.5154-2A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981878" "0" "50" "16" "3633333" "3633333" "dup" "0" "01804" "SLX4_000166" "g.3633333dup" "" "" "" "SLX4(NM_032444.4):c.4921dup (p.(Val1641Glyfs*15))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981879" "0" "50" "16" "3647691" "3647691" "subst" "0.000778708" "01804" "SLX4_000024" "g.3647691T>C" "" "" "" "SLX4(NM_032444.2):c.1372A>G (p.(Lys458Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002310" "0" "50" "16" "3633480" "3633480" "subst" "0" "02329" "SLX4_000167" "g.3633480T>C" "" "" "" "SLX4(NM_032444.4):c.4771A>G (p.M1591V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002311" "0" "30" "16" "3634763" "3634763" "subst" "8.1213E-6" "01804" "SLX4_000168" "g.3634763C>T" "" "" "" "SLX4(NM_032444.2):c.4739+7G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002312" "0" "50" "16" "3639093" "3639093" "subst" "0" "02329" "SLX4_000169" "g.3639093C>G" "" "" "" "SLX4(NM_032444.4):c.4546G>C (p.G1516R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002313" "0" "50" "16" "3639233" "3639233" "del" "0" "01804" "SLX4_000170" "g.3639233del" "" "" "" "SLX4(NM_032444.2):c.4409delC (p.(Pro1470fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002314" "0" "50" "16" "3639236" "3639246" "del" "0" "01804" "SLX4_000171" "g.3639236_3639246del" "" "" "" "SLX4(NM_032444.2):c.4394_4404delGTGACTGTCGC (p.(Arg1465fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002315" "0" "30" "16" "3639378" "3639378" "subst" "0.000563135" "02329" "SLX4_000053" "g.3639378T>A" "" "" "" "SLX4(NM_032444.4):c.4261A>T (p.I1421F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002316" "0" "30" "16" "3639473" "3639473" "subst" "1.22999E-5" "01804" "SLX4_000131" "g.3639473G>A" "" "" "" "SLX4(NM_032444.2):c.4166C>T (p.A1389V, p.(Ala1389Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002317" "0" "50" "16" "3640415" "3640415" "subst" "8.12156E-6" "01804" "SLX4_000172" "g.3640415G>A" "" "" "" "SLX4(NM_032444.2):c.3224C>T (p.(Ser1075Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002318" "0" "30" "16" "3640515" "3640515" "subst" "1.62694E-5" "01804" "SLX4_000173" "g.3640515C>G" "" "" "" "SLX4(NM_032444.2):c.3124G>C (p.(Gly1042Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002319" "0" "50" "16" "3642722" "3642722" "subst" "0.000983023" "01804" "SLX4_000156" "g.3642722C>G" "" "" "" "SLX4(NM_032444.2):c.2305G>C (p.E769Q, p.(Glu769Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002321" "0" "50" "16" "3646184" "3646184" "subst" "0" "01804" "SLX4_000174" "g.3646184C>A" "" "" "" "SLX4(NM_032444.2):c.1894G>T (p.(Gly632Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026700" "0" "50" "16" "3632584" "3632584" "subst" "4.89017E-5" "02329" "SLX4_000175" "g.3632584G>A" "" "" "" "SLX4(NM_032444.4):c.5264C>T (p.A1755V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026701" "0" "30" "16" "3634861" "3634861" "subst" "0.00279377" "02329" "SLX4_000028" "g.3634861G>A" "" "" "" "SLX4(NM_032444.2):c.4648C>T (p.R1550W, p.(Arg1550Trp)), SLX4(NM_032444.4):c.4648C>T (p.R1550W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026702" "0" "30" "16" "3639049" "3639049" "subst" "0.000215475" "02329" "SLX4_000176" "g.3639049C>T" "" "" "" "SLX4(NM_032444.4):c.4590G>A (p.M1530I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026703" "0" "50" "16" "3642768" "3642768" "subst" "2.03513E-5" "02329" "SLX4_000177" "g.3642768G>C" "" "" "" "SLX4(NM_032444.4):c.2259C>G (p.H753Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026704" "0" "10" "16" "3645724" "3645724" "subst" "0.0029368" "02329" "SLX4_000069" "g.3645724C>T" "" "" "" "SLX4(NM_032444.4):c.1925-30G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001026705" "0" "30" "16" "3658544" "3658544" "subst" "0.000320784" "02329" "DNASE1_000088" "g.3658544C>A" "" "" "" "SLX4(NM_032444.4):c.422G>T (p.G141V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041094" "0" "30" "16" "3632347" "3632347" "subst" "0.00556057" "02329" "SLX4_000029" "g.3632347T>C" "" "" "" "SLX4(NM_032444.2):c.5501A>G (p.N1834S, p.(Asn1834Ser)), SLX4(NM_032444.4):c.5501A>G (p.N1834S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041095" "0" "30" "16" "3634764" "3634764" "subst" "2.03031E-5" "01804" "SLX4_000178" "g.3634764G>A" "" "" "" "SLX4(NM_032444.4):c.4739+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041096" "0" "30" "16" "3639676" "3639676" "subst" "0.00914817" "01804" "SLX4_000051" "g.3639676C>T" "" "" "" "SLX4(NM_032444.4):c.3963G>A (p.(Pro1321=), p.P1321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041097" "0" "50" "16" "3640404" "3640404" "subst" "8.12236E-6" "01804" "SLX4_000179" "g.3640404G>A" "" "" "" "SLX4(NM_032444.4):c.3235C>T (p.(Pro1079Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041098" "0" "50" "16" "3644557" "3644557" "subst" "0.000170582" "01804" "SLX4_000180" "g.3644557T>C" "" "" "" "SLX4(NM_032444.4):c.2057A>G (p.(Asn686Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041099" "0" "30" "16" "3645662" "3645662" "subst" "0" "01804" "SLX4_000181" "g.3645662T>G" "" "" "" "SLX4(NM_032444.4):c.1957A>C (p.(Thr653Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041100" "0" "30" "16" "3656645" "3656645" "subst" "0.00137266" "01804" "SLX4_000014" "g.3656645A>G" "" "" "" "SLX4(NM_032444.2):c.590T>C (p.V197A), SLX4(NM_032444.4):c.590T>C (p.(Val197Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041101" "0" "10" "16" "3658876" "3658876" "subst" "0.00599768" "01804" "SLX4_000012" "g.3658876G>A" "" "" "" "SLX4(NM_032444.4):c.90C>T (p.(Ser30=), p.S30=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001055402" "0" "50" "16" "3634857" "3634859" "del" "0" "01804" "SLX4_000182" "g.3634857_3634859del" "" "" "" "SLX4(NM_032444.4):c.4656_4658del (p.(Lys1552del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055403" "0" "30" "16" "3641320" "3641320" "subst" "4.12861E-6" "01804" "SLX4_000183" "g.3641320C>A" "" "" "" "SLX4(NM_032444.4):c.2328-9G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055404" "0" "50" "16" "3658568" "3658568" "subst" "6.90344E-5" "01804" "DNASE1_000093" "g.3658568G>A" "" "" "" "SLX4(NM_032444.4):c.398C>T (p.(Pro133Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055405" "0" "50" "16" "3658866" "3658866" "subst" "0" "01804" "DNASE1_000094" "g.3658866G>A" "" "" "" "SLX4(NM_032444.4):c.100C>T (p.(Gln34Ter))" "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 SLX4 ## Count = 253 "{{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}}" "{{VariantOnTranscript/Haplotype}}" "0000040540" "00019403" "59" "286" "0" "286" "0" "c.286del" "r.(?)" "p.(Thr96Leufs*30)" "2" "FA" "0000040541" "00019403" "99" "1093" "0" "1093" "0" "c.1093del" "r.(?)" "p.(Gln365SerfsTer32)" "5" "FA" "0000040542" "00019403" "59" "1163" "2" "1163" "2" "c.1163+2T>A" "r.(spl?)" "p.(Arg317_Phe387del)" "5i" "FA" "0000040543" "00019403" "59" "514" "0" "514" "0" "c.514del" "r.(?)" "p.(Leu172Phefs*22)" "2" "FA" "0000040544" "00019403" "99" "1093" "0" "1093" "0" "c.1093del" "r.(?)" "p.(Gln365SerfsTer32)" "5" "FA" "0000040545" "00019403" "99" "1093" "0" "1093" "0" "c.1093del" "r.(?)" "p.(Gln365SerfsTer32)" "5" "FA" "0000040546" "00019403" "99" "1163" "3" "1163" "3" "c.1163+3dupT" "r.(spl?)" "p.(Arg317_Phe387del)" "5i" "FA" "0000040547" "00019403" "99" "1367" "-2" "1367" "-2" "c.1367-2A>G" "r.spl" "p.?" "6i" "FA" "0000040548" "00019403" "59" "286" "0" "286" "0" "c.286del" "r.(?)" "p.(Thr96Leufs*30)" "2" "FA" "0000040549" "00019403" "99" "1163" "3" "1163" "3" "c.1163+3dupT" "r.(spl?)" "p.(Arg317_Phe387del)" "5i" "FA" "0000040550" "00019403" "59" "1163" "2" "1163" "2" "c.1163+2T>A" "r.(spl?)" "p.(Arg317_Phe387del)" "5i" "FA" "0000040551" "00019403" "59" "2013" "225" "3147" "0" "c.2013+225_3147delinsCC" "r.spl" "p.(Leu672Valfs*119)" "9i" "FA" "0000040552" "00019403" "50" "1163" "3" "1163" "3" "c.1163+3dupT" "r.(spl?)" "p.(Arg317_Phe387del)" "5i" "FA" "0000040553" "00019403" "99" "1538" "0" "1538" "0" "c.1538G>A" "r.(?)" "p.(W513*)" "7" "FA" "0000044723" "00019403" "30" "421" "0" "421" "0" "c.421G>T" "r.(?)" "p.(Gly141Trp)" "2" "" "0000044724" "00019403" "30" "465" "0" "465" "0" "c.465A>G" "r.(?)" "p.(=)" "2" "" "0000044725" "00019403" "30" "90" "0" "90" "0" "c.90C>T" "r.(?)" "p.(=)" "2" "" "0000044726" "00019403" "30" "555" "0" "555" "0" "c.555C>T" "r.(?)" "p.(=)" "3" "" "0000044727" "00019403" "30" "590" "0" "590" "0" "c.590T>C" "r.(?)" "p.(Val197Ala)" "3" "" "0000044728" "00019403" "30" "610" "0" "610" "0" "c.610C>T" "r.(?)" "p.(Arg204Cys)" "3" "" "0000044729" "00019403" "30" "678" "0" "678" "0" "c.678C>T" "r.(?)" "p.(=)" "3" "" "0000044730" "00019403" "30" "710" "0" "710" "0" "c.710G>A" "r.(?)" "p.(Arg237Gln)" "3" "" "0000044731" "00019403" "30" "753" "0" "753" "0" "c.753G>A" "r.(?)" "p.(=)" "3" "" "0000044732" "00019403" "30" "1152" "0" "1152" "0" "c.1152A>G" "r.(?)" "p.(=)" "5" "" "0000044733" "00019403" "30" "1153" "0" "1153" "0" "c.1153C>A" "r.(?)" "p.(Pro385Thr)" "5" "" "0000044734" "00019403" "30" "1156" "0" "1156" "0" "c.1156A>G" "r.(?)" "p.(Met386Val)" "5" "" "0000044735" "00019403" "30" "999" "0" "999" "0" "c.999C>T" "r.(?)" "p.(=)" "5" "" "0000044736" "00019403" "30" "1371" "0" "1371" "0" "c.1371T>G" "r.(?)" "p.(Asn457Lys)" "7" "" "0000044737" "00019403" "30" "1372" "0" "1372" "0" "c.1372A>G" "r.(?)" "p.(Lys458Glu)" "7" "" "0000044738" "00019403" "30" "1755" "0" "1755" "0" "c.1755C>T" "r.(?)" "p.(=)" "8" "" "0000044739" "00019403" "30" "1803" "0" "1803" "0" "c.1803G>A" "r.(?)" "p.(=)" "8" "" "0000044740" "00019403" "30" "2012" "0" "2012" "0" "c.2012T>C" "r.(?)" "p.(Leu671Ser)" "9" "" "0000044741" "00019403" "30" "4648" "0" "4648" "0" "c.4648C>T" "r.(?)" "p.(Arg1550Trp)" "13" "" "0000044742" "00019403" "30" "5501" "0" "5501" "0" "c.5501A>G" "r.(?)" "p.(Asn1834Ser)" "15" "" "0000044743" "00019403" "30" "2160" "50" "2160" "50" "c.2160+50C>T" "r.(?)" "p.(=)" "10i" "" "0000044744" "00019403" "30" "2161" "-136" "2161" "-136" "c.2161-136G>A" "r.(?)" "p.(=)" "10i" "" "0000044745" "00019403" "30" "2328" "-9" "2328" "-9" "c.2328-9G>C" "r.(?)" "p.(=)" "11i" "" "0000044746" "00019403" "30" "2359" "0" "2359" "0" "c.2359G>A" "r.(?)" "p.(Glu787Lys)" "12" "" "0000044747" "00019403" "30" "2609" "0" "2609" "0" "c.2609C>T" "r.(?)" "p.(Ala870Val)" "12" "" "0000044748" "00019403" "30" "2667" "0" "2667" "0" "c.2667A>G" "r.(?)" "p.(=)" "12" "" "0000044749" "00019403" "30" "2681" "0" "2681" "0" "c.2681T>G" "r.(?)" "p.(Val894Gly)" "12" "" "0000044750" "00019403" "30" "2786" "0" "2786" "0" "c.2786C>T" "r.(?)" "p.(Pro929Leu)" "12" "" "0000044751" "00019403" "30" "2824" "0" "2824" "0" "c.2824G>C" "r.(?)" "p.(Glu942Gln)" "12" "" "0000044752" "00019403" "30" "2854" "0" "2855" "0" "c.2854_2855delinsAT" "r.(?)" "p.(Ala952Met)" "12" "" "0000044753" "00019403" "30" "2924" "0" "2924" "0" "c.2924C>T" "r.(?)" "p.(Pro975Leu)" "12" "" "0000044754" "00019403" "30" "3019" "0" "3019" "0" "c.3019C>A" "r.(?)" "p.(Gln1007Lys)" "12" "" "0000044755" "00019403" "30" "3109" "0" "3109" "0" "c.3109T>C" "r.(?)" "p.(=)" "12" "" "0000044756" "00019403" "30" "3162" "0" "3162" "0" "c.3162G>A" "r.(?)" "p.(=)" "12" "" "0000044757" "00019403" "30" "3315" "0" "3315" "0" "c.3315C>T" "r.(?)" "p.(=)" "12" "" "0000044758" "00019403" "30" "3365" "0" "3365" "0" "c.3365C>T" "r.(?)" "p.(Pro1122Leu)" "12" "" "0000044759" "00019403" "30" "3368" "0" "3368" "0" "c.3368C>A" "r.(?)" "p.(Ser1123Tyr)" "12" "" "0000044760" "00019403" "30" "3662" "0" "3662" "0" "c.3662C>T" "r.(?)" "p.(Ala1221Val)" "12" "" "0000044761" "00019403" "30" "3783" "0" "3783" "0" "c.3783G>A" "r.(?)" "p.(=)" "12" "" "0000044762" "00019403" "30" "3812" "0" "3812" "0" "c.3812C>T" "r.(?)" "p.(Ser1271Phe)" "12" "" "0000044763" "00019403" "30" "3857" "0" "3857" "0" "c.3857C>T" "r.(?)" "p.(Ala1286Val)" "12" "" "0000044764" "00019403" "30" "3963" "0" "3963" "0" "c.3963G>A" "r.(?)" "p.(=)" "12" "" "0000044765" "00019403" "30" "4024" "0" "4024" "0" "c.4024A>G" "r.(?)" "p.(Ser1342Gly)" "12" "" "0000044766" "00019403" "30" "4261" "0" "4261" "0" "c.4261A>T" "r.(?)" "p.(Ile1421Phe)" "12" "" "0000044767" "00019403" "30" "4500" "0" "4500" "0" "c.4500T>C" "r.(?)" "p.(=)" "12" "" "0000044768" "00019403" "30" "4530" "0" "4530" "0" "c.4530G>T" "r.(?)" "p.(=)" "12" "" "0000044769" "00019403" "30" "4581" "0" "4581" "0" "c.4581G>A" "r.(?)" "p.(=)" "12" "" "0000044770" "00019403" "30" "5618" "0" "5618" "0" "c.*113C>T" "r.(?)" "p.(=)" "15" "" "0000044771" "00019403" "30" "5513" "0" "5513" "0" "c.*8A>G" "r.(?)" "p.(=)" "15" "" "0000044772" "00019403" "30" "4637" "-110" "4637" "-110" "c.4637-110T>C" "r.(?)" "p.(=)" "12i" "" "0000044773" "00019403" "30" "4637" "-227" "4637" "-227" "c.4637-227C>T" "r.(?)" "p.(=)" "12i" "" "0000044774" "00019403" "30" "4739" "24" "4739" "24" "c.4739+24G>T" "r.(?)" "p.(=)" "13i" "" "0000044775" "00019403" "30" "4739" "79" "4739" "79" "c.4739+79G>A" "r.(?)" "p.(=)" "12i" "" "0000044776" "00019403" "30" "4739" "79" "4739" "79" "c.4739+79G>A" "r.(?)" "p.(=)" "13i" "" "0000044777" "00019403" "30" "536" "-80" "536" "-80" "c.536-80C>T" "r.(?)" "p.(=)" "2i" "" "0000044778" "00019403" "30" "761" "-32" "761" "-32" "c.761-32T>G" "r.(?)" "p.(=)" "3i" "" "0000044779" "00019403" "30" "1163" "10" "1163" "10" "c.1163+10C>T" "r.(?)" "p.(=)" "5i" "" "0000044780" "00019403" "30" "1164" "0" "1164" "0" "c.1164C>G" "r.(?)" "p.(=)" "5i" "" "0000044781" "00019403" "30" "1366" "11" "1366" "11" "c.1366+11T>C" "r.(?)" "p.(=)" "6i" "" "0000044782" "00019403" "30" "1367" "-44" "1367" "-44" "c.1367-44G>T" "r.(?)" "p.(=)" "6i" "" "0000044783" "00019403" "30" "1925" "-30" "1925" "-30" "c.1925-30G>A" "r.(?)" "p.(=)" "8i" "" "0000044784" "00019403" "30" "1925" "-95" "1925" "-95" "c.1925-95G>A" "r.(?)" "p.(=)" "8i" "" "0000044785" "00019403" "30" "2013" "137" "2013" "137" "c.2013+137G>C" "r.(?)" "p.(=)" "9i" "" "0000044786" "00019403" "30" "2013" "23" "2013" "23" "c.2013+23G>A" "r.(?)" "p.(=)" "9i" "" "0000044787" "00019403" "30" "237" "0" "237" "0" "c.237T>C" "r.(?)" "p.(=)" "2" "" "0000044788" "00019403" "30" "851" "0" "851" "0" "c.851A>G" "r.(?)" "p.(His284Arg)" "4" "" "0000044789" "00019403" "30" "1132" "0" "1132" "0" "c.1132C>A" "r.(?)" "p.(Pro378Thr)" "5" "" "0000044790" "00019403" "30" "1271" "0" "1271" "0" "c.1271C>T" "r.(?)" "p.(Ala424Val)" "6" "" "0000044791" "00019403" "30" "1513" "0" "1513" "0" "c.1513G>A" "r.(?)" "p.(Ala505Thr)" "7" "" "0000044792" "00019403" "30" "1517" "0" "1517" "0" "c.1517G>A" "r.(?)" "p.(Ser506Asn)" "7" "" "0000044793" "00019403" "30" "1641" "0" "1641" "0" "c.1641G>A" "r.(?)" "p.(=)" "8" "" "0000044794" "00019403" "30" "1702" "0" "1702" "0" "c.1702G>A" "r.(?)" "p.(Val568Met)" "8" "" "0000044795" "00019403" "30" "1736" "0" "1736" "0" "c.1736T>C" "r.(?)" "p.(Leu579Pro)" "8" "" "0000044796" "00019403" "30" "1845" "0" "1845" "0" "c.1845C>T" "r.(?)" "p.(=)" "8" "" "0000044797" "00019403" "30" "3178" "0" "3178" "0" "c.3178C>T" "r.(?)" "p.(Arg1060Trp)" "12" "" "0000044798" "00019403" "30" "3860" "0" "3860" "0" "c.3860T>G" "r.(?)" "p.(Val 1287Gly)" "12" "" "0000044799" "00019403" "30" "5607" "0" "5607" "0" "c.*102C>T" "r.(?)" "p.(=)" "15" "" "0000044800" "00019403" "30" "4797" "0" "4797" "0" "c.4797C>T" "r.(?)" "p.(=)" "14" "" "0000044801" "00019403" "30" "4887" "0" "4887" "0" "c.4887C>T" "r.(?)" "p.(=)" "14" "" "0000044802" "00019403" "30" "5081" "0" "5081" "0" "c.5081C>T" "r.(?)" "p.(Ala1694Val)" "14" "" "0000044803" "00019403" "30" "5440" "0" "5440" "0" "c.5440C>T" "r.(?)" "p.(Arg1814Cys)" "15" "" "0000044804" "00019403" "30" "2328" "-48" "2328" "-36" "c.2328-48_2328-36del" "r.(?)" "p.(=)" "11i" "" "0000044805" "00019403" "30" "2628" "0" "2628" "0" "c.2628C>T" "r.(?)" "p.(=)" "12" "" "0000044806" "00019403" "30" "2949" "0" "2949" "0" "c.2949C>T" "r.(?)" "p.(=)" "12" "" "0000044807" "00019403" "30" "4272" "0" "4272" "0" "c.4272C>T" "r.(?)" "p.(=)" "12" "" "0000044808" "00019403" "30" "4410" "0" "4410" "0" "c.4410G>A" "r.(?)" "p.(=)" "12" "" "0000044809" "00019403" "30" "4427" "0" "4427" "0" "c.4427C>G" "r.(?)" "p.(Thr1476Ser)" "12" "" "0000044810" "00019403" "30" "4637" "-210" "4637" "-210" "c.4637-210A>G" "r.(?)" "p.(=)" "12i" "" "0000044811" "00019403" "30" "4637" "-234" "4637" "-234" "c.4637-234G>A" "r.(?)" "p.(=)" "12i" "" "0000044812" "00019403" "30" "4637" "-267" "4637" "-267" "c.4637-267C>T" "r.(?)" "p.(=)" "12i" "" "0000044813" "00019403" "30" "4739" "31" "4739" "31" "c.4739+31G>A" "r.(?)" "p.(=)" "13i" "" "0000044814" "00019403" "30" "4739" "90" "4739" "90" "c.4739+90C>G" "r.(?)" "p.(=)" "13i" "" "0000044815" "00019403" "30" "950" "29" "950" "29" "c.950+29C>T" "r.(?)" "p.(=)" "4i" "" "0000044816" "00019403" "30" "1163" "194" "1163" "194" "c.1163+194C>T" "r.(?)" "p.(=)" "5i" "" "0000044817" "00019403" "30" "1924" "127" "1924" "127" "c.1924+127G>A" "r.(?)" "p.(=)" "8i" "" "0000044818" "00019403" "30" "1924" "59" "1924" "59" "c.1924+59C>T" "r.(?)" "p.(=)" "8i" "" "0000044819" "00019403" "30" "1925" "-106" "1925" "-106" "c.1925-106T>G" "r.(?)" "p.(=)" "8i" "" "0000044820" "00019403" "30" "1925" "-122" "1925" "-122" "c.1925-122C>T" "r.(?)" "p.(=)" "8i" "" "0000044821" "00019403" "30" "1924" "5" "1924" "5" "c1924+5G>A" "r.(?)" "p.(=)" "8i" "" "0000044822" "00019403" "30" "2013" "130" "2013" "130" "c.2013+130C>G" "r.(?)" "p.(=)" "9i" "" "0000044823" "00019403" "90" "2013" "2" "2013" "2" "c.2013+2T>A" "r.(?)" "p.(=)" "9i" "" "0000044824" "00019403" "30" "2014" "-28" "2014" "-28" "c.2014-28G>A" "r.(?)" "p.(=)" "9i" "" "0000044825" "00019403" "90" "2013" "2" "2013" "2" "c.2013+2T>A" "r.1985_2013del" "p.Gly642Alafs*9" "9i" "" "0000044826" "00019403" "30" "5440" "0" "5440" "0" "c.5440C>T" "r.(?)" "p.Arg1814Cys" "15" "" "0000044827" "00019403" "30" "1132" "0" "1132" "0" "c.1132C>A" "r.(?)" "p.Pro378Thr" "5" "" "0000044828" "00019403" "30" "2359" "0" "2359" "0" "c.2359G>A" "r.(?)" "p.Glu787Lys" "12" "" "0000044829" "00019403" "30" "4648" "0" "4648" "0" "c.4648C>T" "r.(?)" "p.Arg1550Trp" "13" "" "0000248682" "00019403" "10" "4500" "0" "4500" "0" "c.4500T>C" "r.(?)" "p.(Asn1500=)" "" "" "0000250319" "00019403" "30" "339" "0" "339" "0" "c.339T>C" "r.(?)" "p.(Ser113=)" "" "" "0000255123" "00019403" "30" "590" "0" "590" "0" "c.590T>C" "r.(?)" "p.(Val197Ala)" "" "" "0000256257" "00019403" "50" "1415" "0" "1415" "0" "c.1415T>C" "r.(?)" "p.(Leu472Ser)" "" "" "0000298375" "00019403" "30" "4261" "0" "4261" "0" "c.4261A>T" "r.(?)" "p.(Ile1421Phe)" "" "" "0000299561" "00019403" "10" "1153" "0" "1153" "0" "c.1153C>A" "r.(?)" "p.(Pro385Thr)" "" "" "0000299562" "00019403" "30" "1324" "0" "1324" "0" "c.1324A>C" "r.(?)" "p.(Arg442=)" "" "" "0000299563" "00019403" "30" "1325" "0" "1325" "0" "c.1325G>C" "r.(?)" "p.(Arg442Thr)" "" "" "0000299564" "00019403" "30" "1673" "0" "1673" "0" "c.1673G>A" "r.(?)" "p.(Arg558Gln)" "" "" "0000299565" "00019403" "90" "1696" "0" "1696" "0" "c.1696G>T" "r.(?)" "p.(Glu566Ter)" "" "" "0000299566" "00019403" "10" "1755" "0" "1755" "0" "c.1755C>T" "r.(?)" "p.(Pro585=)" "" "" "0000299567" "00019403" "10" "1803" "0" "1803" "0" "c.1803G>A" "r.(?)" "p.(Ser601=)" "" "" "0000299568" "00019403" "10" "2824" "0" "2824" "0" "c.2824G>C" "r.(?)" "p.(Glu942Gln)" "" "" "0000299569" "00019403" "10" "2924" "0" "2924" "0" "c.2924C>T" "r.(?)" "p.(Pro975Leu)" "" "" "0000299570" "00019403" "30" "335" "0" "335" "0" "c.335C>T" "r.(?)" "p.(Pro112Leu)" "" "" "0000299571" "00019403" "30" "3368" "0" "3368" "0" "c.3368C>A" "r.(?)" "p.(Ser1123Tyr)" "" "" "0000299572" "00019403" "30" "3370" "0" "3370" "0" "c.3370A>G" "r.(?)" "p.(Ile1124Val)" "" "" "0000299573" "00019403" "10" "3963" "0" "3963" "0" "c.3963G>A" "r.(?)" "p.(Pro1321=)" "" "" "0000299574" "00019403" "30" "4530" "0" "4530" "0" "c.4530G>T" "r.(?)" "p.(Leu1510=)" "" "" "0000299575" "00019403" "10" "4581" "0" "4581" "0" "c.4581G>A" "r.(?)" "p.(Pro1527=)" "" "" "0000299576" "00019403" "10" "710" "0" "710" "0" "c.710G>A" "r.(?)" "p.(Arg237Gln)" "" "" "0000299577" "00019403" "30" "742" "0" "742" "0" "c.742G>A" "r.(?)" "p.(Glu248Lys)" "" "" "0000299578" "00019403" "30" "90" "0" "90" "0" "c.90C>T" "r.(?)" "p.(Ser30=)" "" "" "0000308544" "00019403" "70" "1996" "0" "1996" "0" "c.1996del" "r.(?)" "p.(Arg666GlyfsTer25)" "" "" "0000308545" "00019403" "30" "2290" "0" "2290" "0" "c.2290C>G" "r.(?)" "p.(Pro764Ala)" "" "" "0000308546" "00019403" "10" "2786" "0" "2786" "0" "c.2786C>T" "r.(?)" "p.(Pro929Leu)" "" "" "0000308547" "00019403" "30" "335" "0" "335" "0" "c.335C>T" "r.(?)" "p.(Pro112Leu)" "" "" "0000308548" "00019403" "30" "3857" "0" "3857" "0" "c.3857C>T" "r.(?)" "p.(Ala1286Val)" "" "" "0000308549" "00019403" "30" "465" "0" "465" "0" "c.465A>G" "r.(?)" "p.(Glu155=)" "" "" "0000308550" "00019403" "30" "5499" "0" "5499" "0" "c.5499G>A" "r.(?)" "p.(Arg1833=)" "" "" "0000324520" "00019403" "30" "5501" "0" "5501" "0" "c.5501A>G" "r.(?)" "p.(Asn1834Ser)" "" "" "0000324521" "00019403" "30" "2924" "0" "2924" "0" "c.2924C>T" "r.(?)" "p.(Pro975Leu)" "" "" "0000324522" "00019403" "50" "1426" "0" "1426" "0" "c.1426T>C" "r.(?)" "p.(Ser476Pro)" "" "" "0000324523" "00019403" "30" "1153" "0" "1153" "0" "c.1153C>A" "r.(?)" "p.(Pro385Thr)" "" "" "0000500508" "00019403" "90" "4089" "0" "4090" "0" "c.4089_4090del" "r.(?)" "p.(Asp1365Profs*26)" "" "" "0000500532" "00019403" "90" "4089" "0" "4090" "0" "c.4089_4090del" "r.(?)" "p.(Asp1365Profs*26)" "" "" "0000558088" "00019403" "30" "5501" "0" "5501" "0" "c.5501A>G" "r.(?)" "p.(Asn1834Ser)" "" "" "0000558089" "00019403" "30" "5457" "0" "5457" "0" "c.5457G>A" "r.(?)" "p.(Gln1819=)" "" "" "0000558090" "00019403" "10" "5281" "0" "5281" "0" "c.5281C>T" "r.(?)" "p.(Arg1761Cys)" "" "" "0000558092" "00019403" "30" "4648" "0" "4648" "0" "c.4648C>T" "r.(?)" "p.(Arg1550Trp)" "" "" "0000558094" "00019403" "30" "4536" "0" "4536" "0" "c.4536C>T" "r.(?)" "p.(Asp1512=)" "" "" "0000558095" "00019403" "30" "4494" "0" "4494" "0" "c.4494G>A" "r.(?)" "p.(Leu1498=)" "" "" "0000558096" "00019403" "30" "4241" "0" "4241" "0" "c.4241C>A" "r.(?)" "p.(Pro1414Gln)" "" "" "0000558097" "00019403" "30" "4166" "0" "4166" "0" "c.4166C>T" "r.(?)" "p.(Ala1389Val)" "" "" "0000558098" "00019403" "30" "3982" "0" "3982" "0" "c.3982G>A" "r.(?)" "p.(Val1328Ile)" "" "" "0000558100" "00019403" "30" "3857" "0" "3857" "0" "c.3857C>T" "r.(?)" "p.(Ala1286Val)" "" "" "0000558103" "00019403" "30" "3157" "0" "3157" "0" "c.3157G>T" "r.(?)" "p.(Gly1053Trp)" "" "" "0000558104" "00019403" "30" "2824" "0" "2824" "0" "c.2824G>C" "r.(?)" "p.(Glu942Gln)" "" "" "0000558105" "00019403" "50" "2359" "0" "2359" "0" "c.2359G>A" "r.(?)" "p.(Glu787Lys)" "" "" "0000558106" "00019403" "30" "2190" "0" "2190" "0" "c.2190G>C" "r.(?)" "p.(Glu730Asp)" "" "" "0000558107" "00019403" "30" "2159" "0" "2159" "0" "c.2159A>G" "r.(?)" "p.(Tyr720Cys)" "" "" "0000558111" "00019403" "10" "710" "0" "710" "0" "c.710G>A" "r.(?)" "p.(Arg237Gln)" "" "" "0000558112" "00019403" "10" "710" "0" "710" "0" "c.710G>A" "r.(?)" "p.(Arg237Gln)" "" "" "0000615967" "00019403" "30" "5259" "0" "5259" "0" "c.5259C>T" "r.(?)" "p.(Asp1753=)" "" "" "0000615968" "00019403" "30" "5056" "0" "5056" "0" "c.5056G>A" "r.(?)" "p.(Ala1686Thr)" "" "" "0000615969" "00019403" "50" "4712" "0" "4712" "0" "c.4712C>T" "r.(?)" "p.(Thr1571Met)" "" "" "0000615970" "00019403" "30" "2786" "0" "2786" "0" "c.2786C>T" "r.(?)" "p.(Pro929Leu)" "" "" "0000615971" "00019403" "50" "2236" "0" "2236" "0" "c.2236G>A" "r.(?)" "p.(Glu746Lys)" "" "" "0000623454" "00019403" "30" "2975" "0" "2975" "0" "c.2975G>A" "r.(?)" "p.(Gly992Glu)" "" "" "0000623455" "00019403" "30" "339" "0" "339" "0" "c.339T>C" "r.(?)" "p.(Ser113=)" "" "" "0000657838" "00019403" "50" "5404" "0" "5404" "0" "c.5404G>A" "r.(?)" "p.(Asp1802Asn)" "" "" "0000657839" "00019403" "30" "4494" "0" "4494" "0" "c.4494G>A" "r.(?)" "p.(Leu1498=)" "" "" "0000663258" "00019403" "70" "1465" "0" "1465" "0" "c.1465del" "r.(?)" "p.(Leu489Cysfs*21)" "" "" "0000692065" "00019403" "30" "2014" "-3" "2014" "-3" "c.2014-3C>T" "r.spl?" "p.?" "" "" "0000725768" "00019403" "30" "4648" "0" "4648" "0" "c.4648C>T" "r.(?)" "p.(Arg1550Trp)" "" "" "0000725769" "00019403" "50" "421" "0" "421" "0" "c.421G>T" "r.(?)" "p.(Gly141Trp)" "" "" "0000789665" "00019403" "70" "4381" "0" "4391" "0" "c.4381_4391del" "r.(?)" "p.(Ala1461ProfsTer2)" "12" "" "0000807381" "00019403" "30" "5289" "0" "5289" "0" "c.5289G>A" "r.(?)" "p.(Lys1763=)" "" "" "0000807382" "00019403" "10" "3162" "0" "3162" "0" "c.3162G>A" "r.(?)" "p.(Ser1054=)" "" "" "0000807383" "00019403" "30" "760" "4" "760" "4" "c.760+4T>C" "r.spl?" "p.?" "" "" "0000845117" "00019403" "90" "3583" "0" "3585" "0" "c.3583_3585del" "r.(?)" "p.(Ile1195del)" "" "" "0000845118" "00019403" "90" "4856" "0" "4856" "0" "c.4856C>T" "r.(?)" "p.(Pro1619Leu)" "" "" "0000854497" "00019403" "10" "5281" "0" "5281" "0" "c.5281C>T" "r.(?)" "p.(Arg1761Cys)" "" "" "0000854498" "00019403" "10" "3857" "0" "3857" "0" "c.3857C>T" "r.(?)" "p.(Ala1286Val)" "" "" "0000854499" "00019403" "30" "2305" "0" "2305" "0" "c.2305G>C" "r.(?)" "p.(Glu769Gln)" "" "" "0000854500" "00019403" "50" "845" "0" "845" "0" "c.845C>T" "r.(?)" "p.(Ser282Leu)" "" "" "0000864780" "00019403" "10" "5146" "0" "5146" "0" "c.5146T>A" "r.(?)" "p.(Ser1716Thr)" "" "" "0000864781" "00019403" "10" "4600" "0" "4600" "0" "c.4600G>A" "r.(?)" "p.(Gly1534Ser)" "" "" "0000864782" "00019403" "10" "4338" "0" "4338" "0" "c.4338C>T" "r.(?)" "p.(Thr1446=)" "" "" "0000864783" "00019403" "30" "3062" "0" "3062" "0" "c.3062G>C" "r.(?)" "p.(Arg1021Pro)" "" "" "0000864784" "00019403" "30" "2924" "0" "2924" "0" "c.2924C>T" "r.(?)" "p.(Pro975Leu)" "" "" "0000864785" "00019403" "30" "2305" "0" "2305" "0" "c.2305G>C" "r.(?)" "p.(Glu769Gln)" "" "" "0000864786" "00019403" "10" "1898" "0" "1898" "0" "c.1898G>A" "r.(?)" "p.(Gly633Asp)" "" "" "0000864787" "00019403" "30" "1803" "0" "1803" "0" "c.1803G>A" "r.(?)" "p.(Ser601=)" "" "" "0000864788" "00019403" "30" "1755" "0" "1755" "0" "c.1755C>T" "r.(?)" "p.(Pro585=)" "" "" "0000864789" "00019403" "30" "1153" "0" "1153" "0" "c.1153C>A" "r.(?)" "p.(Pro385Thr)" "" "" "0000892960" "00019403" "30" "3245" "0" "3245" "0" "c.3245A>G" "r.(?)" "p.(Gln1082Arg)" "" "" "0000892961" "00019403" "30" "922" "0" "922" "0" "c.922G>A" "r.(?)" "p.(Val308Met)" "" "" "0000914617" "00019403" "10" "5146" "0" "5146" "0" "c.5146T>A" "r.(?)" "p.(Ser1716Thr)" "" "" "0000914618" "00019403" "10" "4600" "0" "4600" "0" "c.4600G>A" "r.(?)" "p.(Gly1534Ser)" "" "" "0000914619" "00019403" "10" "4338" "0" "4338" "0" "c.4338C>T" "r.(?)" "p.(Thr1446=)" "" "" "0000914620" "00019403" "30" "3315" "0" "3315" "0" "c.3315C>T" "r.(?)" "p.(Ser1105=)" "" "" "0000914621" "00019403" "30" "2975" "0" "2975" "0" "c.2975G>A" "r.(?)" "p.(Gly992Glu)" "" "" "0000914622" "00019403" "10" "1898" "0" "1898" "0" "c.1898G>A" "r.(?)" "p.(Gly633Asp)" "" "" "0000926274" "00019403" "30" "3857" "0" "3857" "0" "c.3857C>T" "r.(?)" "p.(Ala1286Val)" "" "" "0000926275" "00019403" "10" "3365" "0" "3365" "0" "c.3365C>T" "r.(?)" "p.(Pro1122Leu)" "" "" "0000926276" "00019403" "30" "1637" "0" "1637" "0" "c.1637A>G" "r.(?)" "p.(Tyr546Cys)" "" "" "0000950655" "00019403" "30" "570" "0" "570" "0" "c.570T>G" "r.(?)" "p.(=)" "" "" "0000952118" "00019403" "90" "4739" "0" "4739" "0" "c.4739G>T" "r.(?)" "p.(Arg1580Met)" "" "" "0000952119" "00019403" "90" "1723" "0" "1723" "0" "c.1723G>T" "r.(?)" "p.(Glu575*)" "" "" "0000981877" "00019403" "50" "5154" "-2" "5154" "-2" "c.5154-2A>C" "r.spl?" "p.?" "" "" "0000981878" "00019403" "50" "4921" "0" "4921" "0" "c.4921dup" "r.(?)" "p.(Val1641Glyfs*15)" "" "" "0000981879" "00019403" "50" "1372" "0" "1372" "0" "c.1372A>G" "r.(?)" "p.(Lys458Glu)" "" "" "0001002310" "00019403" "50" "4771" "0" "4771" "0" "c.4771A>G" "r.(?)" "p.(Met1591Val)" "" "" "0001002311" "00019403" "30" "4739" "7" "4739" "7" "c.4739+7G>A" "r.(=)" "p.(=)" "" "" "0001002312" "00019403" "50" "4546" "0" "4546" "0" "c.4546G>C" "r.(?)" "p.(Gly1516Arg)" "" "" "0001002313" "00019403" "50" "4409" "0" "4409" "0" "c.4409del" "r.(?)" "p.(Pro1470Argfs*37)" "" "" "0001002314" "00019403" "50" "4394" "0" "4404" "0" "c.4394_4404del" "r.(?)" "p.(Arg1465Leufs*33)" "" "" "0001002315" "00019403" "30" "4261" "0" "4261" "0" "c.4261A>T" "r.(?)" "p.(Ile1421Phe)" "" "" "0001002316" "00019403" "30" "4166" "0" "4166" "0" "c.4166C>T" "r.(?)" "p.(Ala1389Val)" "" "" "0001002317" "00019403" "50" "3224" "0" "3224" "0" "c.3224C>T" "r.(?)" "p.(Ser1075Phe)" "" "" "0001002318" "00019403" "30" "3124" "0" "3124" "0" "c.3124G>C" "r.(?)" "p.(Gly1042Arg)" "" "" "0001002319" "00019403" "50" "2305" "0" "2305" "0" "c.2305G>C" "r.(?)" "p.(Glu769Gln)" "" "" "0001002321" "00019403" "50" "1894" "0" "1894" "0" "c.1894G>T" "r.(?)" "p.(Gly632Trp)" "" "" "0001026700" "00019403" "50" "5264" "0" "5264" "0" "c.5264C>T" "r.(?)" "p.(Ala1755Val)" "" "" "0001026701" "00019403" "30" "4648" "0" "4648" "0" "c.4648C>T" "r.(?)" "p.(Arg1550Trp)" "" "" "0001026702" "00019403" "30" "4590" "0" "4590" "0" "c.4590G>A" "r.(?)" "p.(Met1530Ile)" "" "" "0001026703" "00019403" "50" "2259" "0" "2259" "0" "c.2259C>G" "r.(?)" "p.(His753Gln)" "" "" "0001026704" "00019403" "10" "1925" "-30" "1925" "-30" "c.1925-30G>A" "r.(=)" "p.(=)" "" "" "0001026705" "00019403" "30" "422" "0" "422" "0" "c.422G>T" "r.(?)" "p.(Gly141Val)" "" "" "0001041094" "00019403" "30" "5501" "0" "5501" "0" "c.5501A>G" "r.(?)" "p.(Asn1834Ser)" "" "" "0001041095" "00019403" "30" "4739" "6" "4739" "6" "c.4739+6C>T" "r.(=)" "p.(=)" "" "" "0001041096" "00019403" "30" "3963" "0" "3963" "0" "c.3963G>A" "r.(?)" "p.(Pro1321=)" "" "" "0001041097" "00019403" "50" "3235" "0" "3235" "0" "c.3235C>T" "r.(?)" "p.(Pro1079Ser)" "" "" "0001041098" "00019403" "50" "2057" "0" "2057" "0" "c.2057A>G" "r.(?)" "p.(Asn686Ser)" "" "" "0001041099" "00019403" "30" "1957" "0" "1957" "0" "c.1957A>C" "r.(?)" "p.(Thr653Pro)" "" "" "0001041100" "00019403" "30" "590" "0" "590" "0" "c.590T>C" "r.(?)" "p.(Val197Ala)" "" "" "0001041101" "00019403" "10" "90" "0" "90" "0" "c.90C>T" "r.(?)" "p.(Ser30=)" "" "" "0001055402" "00019403" "50" "4656" "0" "4658" "0" "c.4656_4658del" "r.(?)" "p.(Lys1552del)" "" "" "0001055403" "00019403" "30" "2328" "-9" "2328" "-9" "c.2328-9G>T" "r.(=)" "p.(=)" "" "" "0001055404" "00019403" "50" "398" "0" "398" "0" "c.398C>T" "r.(?)" "p.(Pro133Leu)" "" "" "0001055405" "00019403" "50" "100" "0" "100" "0" "c.100C>T" "r.(?)" "p.(Gln34*)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 125 "{{screeningid}}" "{{variantid}}" "0000020017" "0000040540" "0000020017" "0000040548" "0000020018" "0000040541" "0000020018" "0000040549" "0000020019" "0000040542" "0000020019" "0000040550" "0000020020" "0000040543" "0000020020" "0000040551" "0000020021" "0000040544" "0000020021" "0000040552" "0000020022" "0000040545" "0000020022" "0000040546" "0000020023" "0000040547" "0000020023" "0000040553" "0000022417" "0000044723" "0000022417" "0000044724" "0000022417" "0000044725" "0000022417" "0000044726" "0000022417" "0000044727" "0000022417" "0000044728" "0000022417" "0000044729" "0000022417" "0000044730" "0000022417" "0000044731" "0000022417" "0000044732" "0000022417" "0000044733" "0000022417" "0000044734" "0000022417" "0000044735" "0000022417" "0000044736" "0000022417" "0000044737" "0000022417" "0000044738" "0000022417" "0000044739" "0000022417" "0000044740" "0000022417" "0000044741" "0000022417" "0000044742" "0000022417" "0000044743" "0000022417" "0000044744" "0000022417" "0000044745" "0000022417" "0000044746" "0000022417" "0000044747" "0000022417" "0000044748" "0000022417" "0000044749" "0000022417" "0000044750" "0000022417" "0000044751" "0000022417" "0000044752" "0000022417" "0000044753" "0000022417" "0000044754" "0000022417" "0000044755" "0000022417" "0000044756" "0000022417" "0000044757" "0000022417" "0000044758" "0000022417" "0000044759" "0000022417" "0000044760" "0000022417" "0000044761" "0000022417" "0000044762" "0000022417" "0000044763" "0000022417" "0000044764" "0000022417" "0000044765" "0000022417" "0000044766" "0000022417" "0000044767" "0000022417" "0000044768" "0000022417" "0000044769" "0000022417" "0000044770" "0000022417" "0000044771" "0000022417" "0000044772" "0000022417" "0000044773" "0000022417" "0000044774" "0000022417" "0000044775" "0000022417" "0000044776" "0000022417" "0000044777" "0000022417" "0000044778" "0000022417" "0000044779" "0000022417" "0000044780" "0000022417" "0000044781" "0000022417" "0000044782" "0000022417" "0000044783" "0000022417" "0000044784" "0000022417" "0000044785" "0000022417" "0000044786" "0000022417" "0000044787" "0000022417" "0000044788" "0000022417" "0000044789" "0000022417" "0000044790" "0000022417" "0000044791" "0000022417" "0000044792" "0000022417" "0000044793" "0000022417" "0000044794" "0000022417" "0000044795" "0000022417" "0000044796" "0000022417" "0000044797" "0000022417" "0000044798" "0000022417" "0000044799" "0000022417" "0000044800" "0000022417" "0000044801" "0000022417" "0000044802" "0000022417" "0000044803" "0000022417" "0000044804" "0000022417" "0000044805" "0000022417" "0000044806" "0000022417" "0000044807" "0000022417" "0000044808" "0000022417" "0000044809" "0000022417" "0000044810" "0000022417" "0000044811" "0000022417" "0000044812" "0000022417" "0000044813" "0000022417" "0000044814" "0000022417" "0000044815" "0000022417" "0000044816" "0000022417" "0000044817" "0000022417" "0000044818" "0000022417" "0000044819" "0000022417" "0000044820" "0000022417" "0000044821" "0000022417" "0000044822" "0000022417" "0000044823" "0000022417" "0000044824" "0000022418" "0000044825" "0000247662" "0000500508" "0000247678" "0000500532" "0000300546" "0000663258" "0000377350" "0000789665" "0000408240" "0000845117" "0000408241" "0000845118" "0000445217" "0000952118" "0000445218" "0000952119"