### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RTEL1) # 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}}" "RTEL1" "regulator of telomere elongation helicase 1" "20" "q13.3" "unknown" "NC_000020.10" "UD_132465001593" "" "http://www.LOVD.nl/RTEL1" "The RTEL1 Telomerase Database " "1" "15888" "51750" "608833" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/RTEL1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-10-26 21:44:46" "00000" "2026-01-20 18:57:21" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00024069" "RTEL1" "transcript variant 1" "002" "NM_016434.3" "" "NP_057518.1" "" "" "" "-827" "4128" "3660" "62289163" "62327606" "00006" "2015-10-26 21:42:29" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03850" "DKCB5;DCKA4" "dyskeratosis congenita, autosomal recessive, type 5 (DKCB-5, autosomal dominant, type 4 (DKCA-4))" "AD;AR" "615190" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04650" "PFBMFT3" "fibrosis, pulmonary, and/or bone marrow failure, telomere-related, type 3 (PFBMFT-3)" "AD" "616373" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" "05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "RTEL1" "03850" "RTEL1" "04650" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00292966" "" "" "" "48" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292968" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292969" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292970" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304868" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00433127" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "M" "" "Norway" "" "0" "" "" "" "Pat106,1" "00433133" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "M" "" "Ecuador" "" "0" "" "" "" "Pat113,1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00292966" "00198" "00292968" "00198" "00292969" "00198" "00292970" "00198" "00304868" "00198" "00433127" "05292" "00433133" "05292" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03850, 04650, 05292 ## Count = 2 "{{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}}" "0000323653" "05292" "00433127" "00006" "Familial, autosomal recessive" "23y" "neutrophil defect or congenital condition with bone marrow failure such as dyskeratosis congenita and Fanconi-like phenotype, anemia and thrombocytopenia" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" "0000323659" "05292" "00433133" "00006" "Familial, autosomal recessive" "4m" "severe combined immunodeficiency" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000294134" "00292966" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294136" "00292968" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294137" "00292969" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294138" "00292970" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305997" "00304868" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000434558" "00433127" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" "0000434564" "00433133" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 280 "{{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}}" "0000301511" "0" "30" "20" "62293308" "62293308" "subst" "0.00161311" "02326" "RTEL1-TNFRSF6B_000005" "g.62293308G>A" "" "" "" "RTEL1(NM_001283009.2):c.395+12G>A, RTEL1(NM_016434.3):c.395+12G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63661955G>A" "" "likely benign" "" "0000307395" "0" "30" "20" "62309673" "62309673" "subst" "2.86975E-5" "01943" "RTEL1-TNFRSF6B_000010" "g.62309673C>T" "" "" "" "RTEL1(NM_001283009.1):c.1011C>T (p.D337=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63678320C>T" "" "likely benign" "" "0000307396" "0" "30" "20" "62309679" "62309679" "subst" "0.00350217" "01943" "RTEL1-TNFRSF6B_000011" "g.62309679C>T" "" "" "" "RTEL1(NM_001283009.1):c.1017C>T (p.S339=), RTEL1(NM_001283009.2):c.1017C>T (p.(Ser339=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63678326C>T" "" "likely benign" "" "0000307397" "0" "30" "20" "62292656" "62292656" "subst" "0" "01943" "RTEL1-TNFRSF6B_000002" "g.62292656G>C" "" "" "" "RTEL1(NM_001283009.1):c.108G>C (p.V36=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63661303G>C" "" "likely benign" "" "0000307398" "0" "50" "20" "62319016" "62319016" "subst" "0" "01943" "RTEL1-TNFRSF6B_000012" "g.62319016C>G" "" "" "" "RTEL1(NM_001283009.1):c.1374C>G (p.F458L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63687663C>G" "" "VUS" "" "0000307399" "0" "50" "20" "62292700" "62292700" "subst" "0" "01943" "RTEL1-TNFRSF6B_000003" "g.62292700G>C" "" "" "" "RTEL1(NM_001283009.1):c.152G>C (p.C51S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63661347G>C" "" "VUS" "" "0000307400" "0" "10" "20" "62319356" "62319356" "subst" "0.000966448" "01943" "RTEL1-TNFRSF6B_000013" "g.62319356C>T" "" "" "" "RTEL1(NM_001283009.1):c.1548C>T (p.V516=), RTEL1(NM_001283009.2):c.1548C>T (p.V516=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63688003C>T" "" "benign" "" "0000307401" "0" "30" "20" "62319676" "62319676" "subst" "4.48826E-5" "01943" "RTEL1-TNFRSF6B_000014" "g.62319676C>A" "" "" "" "RTEL1(NM_001283009.1):c.1659C>A (p.P553=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63688323C>A" "" "likely benign" "" "0000307402" "0" "50" "20" "62292721" "62292721" "subst" "0" "01943" "RTEL1-TNFRSF6B_000004" "g.62292721C>G" "" "" "" "RTEL1(NM_001283009.1):c.173C>G (p.A58G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63661368C>G" "" "VUS" "" "0000307403" "0" "30" "20" "62319919" "62319919" "subst" "0.00364656" "01943" "RTEL1-TNFRSF6B_000015" "g.62319919G>A" "" "" "" "RTEL1(NM_001283009.1):c.1761G>A (p.P587=, p.(Pro587=)), RTEL1(NM_001283009.2):c.1761G>A (p.P587=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63688566G>A" "" "likely benign" "" "0000307404" "0" "30" "20" "62322188" "62322188" "subst" "0.00166323" "01943" "RTEL1-TNFRSF6B_000016" "g.62322188G>T" "" "" "" "RTEL1(NM_001283009.1):c.2444G>T (p.S815I), RTEL1(NM_001283009.2):c.2444G>T (p.S815I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63690835G>T" "" "likely benign" "" "0000307405" "0" "30" "20" "62322292" "62322292" "subst" "4.70854E-5" "01943" "RTEL1-TNFRSF6B_000017" "g.62322292G>A" "" "" "" "RTEL1(NM_001283009.1):c.2548G>A (p.E850K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63690939G>A" "" "likely benign" "" "0000307406" "0" "30" "20" "62324166" "62324166" "subst" "0.0011291" "01943" "RTEL1-TNFRSF6B_000018" "g.62324166C>T" "" "" "" "RTEL1(NM_001283009.1):c.2661C>T (p.P887=), RTEL1(NM_001283010.1):c.1992C>T (p.P664=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63692813C>T" "" "likely benign" "" "0000307407" "0" "30" "20" "62324167" "62324167" "subst" "0.000723843" "01943" "RTEL1-TNFRSF6B_000019" "g.62324167G>C" "" "" "" "RTEL1(NM_001283009.1):c.2662G>C (p.V888L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63692814G>C" "" "likely benign" "" "0000307408" "0" "30" "20" "62324211" "62324211" "subst" "0.000517586" "01943" "RTEL1-TNFRSF6B_000020" "g.62324211C>T" "" "" "" "RTEL1(NM_001283009.1):c.2706C>T (p.A902=), RTEL1(NM_001283009.2):c.2706C>T (p.A902=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63692858C>T" "" "likely benign" "" "0000307409" "0" "10" "20" "62324280" "62324280" "subst" "0.00831127" "01943" "RTEL1-TNFRSF6B_000021" "g.62324280C>T" "" "" "" "RTEL1(NM_001283009.1):c.2775C>T (p.S925=), RTEL1(NM_001283009.2):c.2775C>T (p.(Ser925=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63692927C>T" "" "benign" "" "0000307410" "0" "30" "20" "62324292" "62324292" "subst" "0.000598993" "01943" "RTEL1-TNFRSF6B_000022" "g.62324292C>T" "" "" "" "RTEL1(NM_001283009.1):c.2787C>T (p.A929=), RTEL1(NM_001283010.1):c.2118C>T (p.A706=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63692939C>T" "" "likely benign" "" "0000307411" "0" "30" "20" "62324310" "62324310" "subst" "0.00190337" "01943" "RTEL1-TNFRSF6B_000023" "g.62324310C>T" "" "" "" "RTEL1(NM_001283009.1):c.2805C>T (p.L935=), RTEL1(NM_001283010.1):c.2136C>T (p.L712=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63692957C>T" "" "likely benign" "" "0000307412" "0" "30" "20" "62324316" "62324316" "subst" "0" "01943" "RTEL1-TNFRSF6B_000024" "g.62324316C>T" "" "" "" "RTEL1(NM_001283009.1):c.2811C>T (p.P937=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63692963C>T" "" "likely benign" "" "0000307413" "0" "50" "20" "62324506" "62324506" "subst" "0" "01943" "RTEL1-TNFRSF6B_000025" "g.62324506G>C" "" "" "" "RTEL1(NM_001283009.1):c.2862G>C (p.Q954H), RTEL1(NM_001283009.2):c.2862G>C (p.(Gln954His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63693153G>C" "" "VUS" "" "0000307414" "0" "10" "20" "62324542" "62324542" "subst" "0.00134678" "01943" "RTEL1-TNFRSF6B_000026" "g.62324542G>C" "" "" "" "RTEL1(NM_001283009.1):c.2898G>C (p.E966D), RTEL1(NM_001283010.1):c.2229G>C (p.E743D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63693189G>C" "" "benign" "" "0000307415" "0" "30" "20" "62326267" "62326267" "subst" "4.12324E-6" "01943" "RTEL1-TNFRSF6B_000027" "g.62326267G>A" "" "" "" "RTEL1(NM_001283009.1):c.3283G>A (p.V1095M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63694914G>A" "" "likely benign" "" "0000307416" "0" "30" "20" "62326498" "62326498" "subst" "0.00155843" "01943" "RTEL1-TNFRSF6B_000028" "g.62326498G>A" "" "" "" "RTEL1(NM_001283009.1):c.3423G>A (p.P1141=, p.(Pro1141=)), RTEL1(NM_001283010.1):c.2754G>A (p.P918=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63695145G>A" "" "likely benign" "" "0000307417" "0" "30" "20" "62326703" "62326703" "subst" "2.58633E-5" "01943" "RTEL1-TNFRSF6B_000029" "g.62326703C>T" "" "" "" "RTEL1(NM_001283009.1):c.3522C>T (p.T1174=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63695350C>T" "" "likely benign" "" "0000307418" "0" "10" "20" "62326873" "62326873" "subst" "0.00126155" "01943" "RTEL1-TNFRSF6B_000030" "g.62326873C>T" "" "" "" "RTEL1(NM_001283009.1):c.3692C>T (p.T1231M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63695520C>T" "" "benign" "" "0000307419" "0" "30" "20" "62327126" "62327126" "subst" "0.00273281" "01943" "RTEL1-TNFRSF6B_000032" "g.62327126C>G" "" "" "" "RTEL1(NM_001283009.1):c.3823-5C>G, RTEL1(NM_001283010.1):c.2984-5C>G, RTEL1(NM_016434.3):c.3653-5C>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63695773C>G" "" "likely benign" "" "0000307420" "0" "30" "20" "62327122" "62327122" "subst" "0" "01943" "RTEL1-TNFRSF6B_000031" "g.62327122G>A" "" "" "" "RTEL1(NM_001283009.1):c.3823-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63695769G>A" "" "likely benign" "" "0000307421" "0" "30" "20" "62293862" "62293862" "subst" "0.00277727" "01943" "RTEL1-TNFRSF6B_000006" "g.62293862C>T" "" "" "" "RTEL1(NM_032957.4):c.431C>T (p.T144I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63662509C>T" "" "likely benign" "" "0000307422" "0" "50" "20" "62298845" "62298845" "subst" "6.49704E-5" "01943" "RTEL1-TNFRSF6B_000007" "g.62298845G>A" "" "" "" "RTEL1(NM_001283009.1):c.638G>A (p.R213Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63667492G>A" "" "VUS" "" "0000307423" "0" "50" "20" "62303912" "62303912" "subst" "0" "01943" "RTEL1-TNFRSF6B_000008" "g.62303912C>T" "" "" "" "RTEL1(NM_001283009.1):c.703C>T (p.R235C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63672559C>T" "" "VUS" "" "0000307424" "0" "30" "20" "62303953" "62303953" "subst" "0.000240677" "01943" "RTEL1-TNFRSF6B_000009" "g.62303953C>T" "" "" "" "RTEL1(NM_001283009.1):c.744C>T (p.I248=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63672600C>T" "" "likely benign" "" "0000338537" "0" "10" "20" "62290663" "62290663" "subst" "0" "02327" "RTEL1-TNFRSF6B_000033" "g.62290663C>T" "" "" "" "RTEL1(NM_001283009.1):c.-93C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63659310C>T" "" "benign" "" "0000338538" "0" "30" "20" "62290697" "62290697" "subst" "0" "02327" "RTEL1-TNFRSF6B_000034" "g.62290697A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63659344A>C" "" "likely benign" "" "0000338539" "0" "10" "20" "62294062" "62294062" "subst" "0" "02327" "RTEL1-TNFRSF6B_000038" "g.62294062G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63662709G>A" "" "benign" "" "0000338540" "0" "10" "20" "62294094" "62294094" "subst" "0" "02327" "RTEL1-TNFRSF6B_000039" "g.62294094T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63662741T>C" "" "benign" "" "0000338541" "0" "10" "20" "62305274" "62305274" "subst" "0.248373" "02327" "RTEL1-TNFRSF6B_000041" "g.62305274G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63673921G>A" "" "benign" "" "0000338542" "0" "10" "20" "62309554" "62309554" "subst" "0.663952" "02327" "RTEL1-TNFRSF6B_000042" "g.62309554C>T" "" "" "" "RTEL1(NM_001283009.1):c.958+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63678201C>T" "" "benign" "" "0000338544" "0" "10" "20" "62319284" "62319284" "subst" "0.0476765" "02327" "RTEL1-TNFRSF6B_000044" "g.62319284G>A" "" "" "" "RTEL1(NM_001283009.1):c.1482-6G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63687931G>A" "" "benign" "" "0000338545" "0" "10" "20" "62319464" "62319464" "subst" "0.742471" "02327" "RTEL1-TNFRSF6B_000045" "g.62319464T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63688111T>C" "" "benign" "" "0000338546" "0" "10" "20" "62319604" "62319604" "subst" "0.747521" "02327" "RTEL1-TNFRSF6B_000046" "g.62319604A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63688251A>C" "" "benign" "" "0000338547" "0" "10" "20" "62321073" "62321073" "subst" "0.0246714" "02327" "RTEL1-TNFRSF6B_000050" "g.62321073C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63689720C>T" "" "benign" "" "0000338549" "0" "10" "20" "62324391" "62324391" "subst" "0.0163217" "02327" "RTEL1-TNFRSF6B_000058" "g.62324391G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63693038G>A" "" "benign" "" "0000338550" "0" "30" "20" "62326076" "62326076" "subst" "0" "02327" "RTEL1-TNFRSF6B_000062" "g.62326076A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63694723A>C" "" "likely benign" "" "0000338551" "0" "10" "20" "62326579" "62326579" "subst" "0.148295" "02327" "RTEL1-TNFRSF6B_000064" "g.62326579G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63695226G>T" "" "benign" "" "0000338552" "0" "30" "20" "62327126" "62327126" "subst" "0.00273281" "02327" "RTEL1-TNFRSF6B_000032" "g.62327126C>G" "" "" "" "RTEL1(NM_001283009.1):c.3823-5C>G, RTEL1(NM_001283010.1):c.2984-5C>G, RTEL1(NM_016434.3):c.3653-5C>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63695773C>G" "" "likely benign" "" "0000339094" "0" "70" "20" "62293919" "62293919" "subst" "0" "02327" "RTEL1-TNFRSF6B_000037" "g.62293919G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63662566G>A" "" "likely pathogenic" "" "0000340338" "0" "10" "20" "62322288" "62322288" "subst" "0.740714" "02327" "RTEL1-TNFRSF6B_000054" "g.62322288T>C" "" "" "" "RTEL1(NM_001283009.1):c.2544T>C (p.P848=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63690935T>C" "" "benign" "" "0000340339" "0" "10" "20" "62324289" "62324289" "subst" "0.220307" "02327" "RTEL1-TNFRSF6B_000056" "g.62324289C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63692936C>T" "" "benign" "" "0000340823" "0" "10" "20" "62297400" "62297400" "subst" "0.0684864" "02327" "RTEL1-TNFRSF6B_000040" "g.62297400T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63666047T>C" "" "benign" "" "0000341592" "0" "10" "20" "62321655" "62321655" "subst" "0.738386" "02327" "RTEL1-TNFRSF6B_000053" "g.62321655G>A" "" "" "" "RTEL1(NM_001283009.1):c.2274G>A (p.A758=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63690302G>A" "" "benign" "" "0000341635" "0" "10" "20" "62324290" "62324290" "subst" "0.0273313" "02327" "RTEL1-TNFRSF6B_000057" "g.62324290G>A" "" "" "" "RTEL1(NM_001283009.1):c.2785G>A (p.A929T, p.(Ala929Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63692937G>A" "" "benign" "" "0000343287" "0" "10" "20" "62321128" "62321128" "subst" "0.0123452" "02327" "RTEL1-TNFRSF6B_000051" "g.62321128G>A" "" "" "" "RTEL1(NM_001283009.1):c.2051G>A (p.(Arg684Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63689775G>A" "" "benign" "" "0000343580" "0" "10" "20" "62293272" "62293272" "subst" "0.0618166" "02327" "RTEL1-TNFRSF6B_000036" "g.62293272A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63661919A>G" "" "benign" "" "0000344177" "0" "10" "20" "62320968" "62320968" "subst" "0.744029" "02327" "RTEL1-TNFRSF6B_000049" "g.62320968T>C" "" "" "" "RTEL1(NM_001283009.1):c.1992T>C (p.D664=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63689615T>C" "" "benign" "" "0000344182" "0" "10" "20" "62321189" "62321189" "subst" "0.0798392" "02327" "RTEL1-TNFRSF6B_000052" "g.62321189C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63689836C>T" "" "benign" "" "0000344486" "0" "10" "20" "62325788" "62325788" "subst" "0.000964535" "02327" "RTEL1-TNFRSF6B_000060" "g.62325788A>G" "" "" "" "RTEL1(NM_001283009.2):c.3056A>G (p.(Gln1019Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63694435A>G" "" "benign" "" "0000344492" "0" "10" "20" "62326110" "62326110" "subst" "0.750184" "02327" "RTEL1-TNFRSF6B_000063" "g.62326110A>C" "" "" "" "RTEL1(NM_001283009.1):c.3126A>C (p.Q1042H), RTEL1(NM_001283009.2):c.3126A>C (p.Q1042H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63694757A>C" "" "benign" "" "0000344667" "0" "50" "20" "62290817" "62290817" "subst" "0" "02327" "RTEL1-TNFRSF6B_000035" "g.62290817A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63659464A>T" "" "VUS" "" "0000348075" "0" "50" "20" "62319692" "62319692" "subst" "4.07784E-6" "02327" "RTEL1-TNFRSF6B_000047" "g.62319692T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63688339T>A" "" "VUS" "" "0000348110" "0" "50" "20" "62324583" "62324583" "subst" "0" "02327" "RTEL1-TNFRSF6B_000059" "g.62324583C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63693230C>T" "" "VUS" "" "0000348124" "0" "10" "20" "62325833" "62325833" "subst" "0.0163654" "02327" "RTEL1-TNFRSF6B_000061" "g.62325833C>A" "" "" "" "RTEL1(NM_001283009.1):c.3101C>A (p.(Pro1034His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63694480C>A" "" "benign" "" "0000350689" "0" "50" "20" "62324212" "62324212" "subst" "4.07511E-6" "02327" "RTEL1-TNFRSF6B_000055" "g.62324212G>A" "" "" "" "RTEL1(NM_001283009.1):c.2707G>A (p.V903M, p.(Val903Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63692859G>A" "" "VUS" "" "0000570298" "0" "10" "20" "62289614" "62289614" "subst" "0" "01943" "ARFRP1_000001" "g.62289614G>C" "" "" "" "RTEL1(NM_001283009.1):c.-376G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63658261G>C" "" "benign" "" "0000570299" "0" "10" "20" "62290663" "62290663" "subst" "0" "01943" "RTEL1-TNFRSF6B_000033" "g.62290663C>T" "" "" "" "RTEL1(NM_001283009.1):c.-93C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63659310C>T" "" "benign" "" "0000570300" "0" "30" "20" "62293273" "62293273" "subst" "0.000320802" "01943" "ARFRP1_000002" "g.62293273C>T" "" "" "" "RTEL1(NM_001283009.1):c.372C>T (p.N124=), RTEL1(NM_001283009.2):c.372C>T (p.N124=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63661920C>T" "" "likely benign" "" "0000570301" "0" "50" "20" "62293889" "62293889" "subst" "0" "01943" "ARFRP1_000003" "g.62293889C>T" "" "" "" "RTEL1(NM_032957.4):c.458C>T (p.S153F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63662536C>T" "" "VUS" "" "0000570302" "0" "10" "20" "62309554" "62309554" "subst" "0.663952" "01943" "RTEL1-TNFRSF6B_000042" "g.62309554C>T" "" "" "" "RTEL1(NM_001283009.1):c.958+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63678201C>T" "" "benign" "" "0000570303" "0" "30" "20" "62309621" "62309621" "subst" "0.0011465" "01804" "ARFRP1_000004" "g.62309621T>C" "" "" "" "RTEL1(NM_001283009.1):c.959T>C (p.M320T, p.(Met320Thr)), RTEL1(NM_001283010.1):c.290T>C (p.M97T), RTEL1(NM_032957.5):c.1031T>C (p.M344T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63678268T>C" "" "likely benign" "" "0000570304" "0" "30" "20" "62312070" "62312070" "subst" "0.000593926" "01943" "ARFRP1_000005" "g.62312070C>G" "" "" "" "RTEL1(NM_001283009.1):c.1189C>G (p.Q397E), RTEL1(NM_001283010.1):c.520C>G (p.Q174E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63680717C>G" "" "likely benign" "" "0000570305" "0" "30" "20" "62317231" "62317231" "subst" "0.000272055" "01943" "ARFRP1_000006" "g.62317231G>A" "" "" "" "RTEL1(NM_001283009.1):c.1348+6G>A, RTEL1(NM_001283009.2):c.1348+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63685878G>A" "" "likely benign" "" "0000570306" "0" "30" "20" "62319079" "62319079" "subst" "6.52693E-5" "01943" "ARFRP1_000007" "g.62319079C>T" "" "" "" "RTEL1(NM_001283009.1):c.1437C>T (p.S479=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63687726C>T" "" "likely benign" "" "0000570307" "0" "30" "20" "62319085" "62319085" "subst" "3.90202E-5" "01943" "ARFRP1_000008" "g.62319085G>A" "" "" "" "RTEL1(NM_001283009.1):c.1443G>A (p.T481=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63687732G>A" "" "likely benign" "" "0000570308" "0" "10" "20" "62319284" "62319284" "subst" "0.0476765" "01804" "RTEL1-TNFRSF6B_000044" "g.62319284G>A" "" "" "" "RTEL1(NM_001283009.1):c.1482-6G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63687931G>A" "" "benign" "" "0000570309" "0" "30" "20" "62319501" "62319501" "subst" "0.000301996" "01943" "ARFRP1_000009" "g.62319501G>A" "" "" "" "RTEL1(NM_001283009.1):c.1605G>A (p.E535=), RTEL1(NM_001283009.2):c.1605G>A (p.E535=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63688148G>A" "" "likely benign" "" "0000570310" "0" "30" "20" "62319501" "62319501" "subst" "0.000301996" "02326" "ARFRP1_000009" "g.62319501G>A" "" "" "" "RTEL1(NM_001283009.1):c.1605G>A (p.E535=), RTEL1(NM_001283009.2):c.1605G>A (p.E535=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63688148G>A" "" "likely benign" "" "0000570311" "0" "30" "20" "62319730" "62319730" "subst" "9.79384E-5" "01943" "ARFRP1_000010" "g.62319730G>A" "" "" "" "RTEL1(NM_001283009.1):c.1713G>A (p.E571=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63688377G>A" "" "likely benign" "" "0000570312" "0" "10" "20" "62319885" "62319885" "subst" "0.0011751" "01943" "ARFRP1_000011" "g.62319885G>A" "" "" "" "RTEL1(NM_001283009.1):c.1727G>A (p.R576H), RTEL1(NM_001283010.1):c.1058G>A (p.R353H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63688532G>A" "" "benign" "" "0000570313" "0" "30" "20" "62319919" "62319919" "subst" "0.00364656" "02326" "RTEL1-TNFRSF6B_000015" "g.62319919G>A" "" "" "" "RTEL1(NM_001283009.1):c.1761G>A (p.P587=, p.(Pro587=)), RTEL1(NM_001283009.2):c.1761G>A (p.P587=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63688566G>A" "" "likely benign" "" "0000570314" "0" "10" "20" "62319972" "62319972" "subst" "0.004218" "02326" "ARFRP1_000012" "g.62319972C>T" "" "" "" "RTEL1(NM_001283009.2):c.1800+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63688619C>T" "" "benign" "" "0000570315" "0" "30" "20" "62320440" "62320440" "subst" "0.00037285" "01943" "ARFRP1_000013" "g.62320440C>T" "" "" "" "RTEL1(NM_001283009.1):c.1833C>T (p.A611=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63689087C>T" "" "likely benign" "" "0000570316" "0" "10" "20" "62320968" "62320968" "subst" "0.744029" "01943" "RTEL1-TNFRSF6B_000049" "g.62320968T>C" "" "" "" "RTEL1(NM_001283009.1):c.1992T>C (p.D664=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63689615T>C" "" "benign" "" "0000570317" "0" "30" "20" "62321083" "62321083" "subst" "8.29745E-5" "02326" "ARFRP1_000014" "g.62321083C>T" "" "" "" "RTEL1(NM_001283009.2):c.2026-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63689730C>T" "" "likely benign" "" "0000570318" "0" "10" "20" "62321128" "62321128" "subst" "0.0123452" "01804" "RTEL1-TNFRSF6B_000051" "g.62321128G>A" "" "" "" "RTEL1(NM_001283009.1):c.2051G>A (p.(Arg684Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63689775G>A" "" "benign" "" "0000570319" "0" "30" "20" "62321443" "62321443" "subst" "3.27571E-5" "01943" "ARFRP1_000015" "g.62321443C>T" "" "" "" "RTEL1(NM_001283009.1):c.2145C>T (p.F715=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63690090C>T" "" "likely benign" "" "0000570320" "0" "50" "20" "62321484" "62321484" "subst" "8.15528E-6" "01804" "ARFRP1_000016" "g.62321484G>A" "" "" "" "RTEL1(NM_016434.3):c.2186G>A (p.(Arg729His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63690131G>A" "" "VUS" "" "0000570321" "0" "30" "20" "62321489" "62321489" "subst" "2.44575E-5" "01943" "ARFRP1_000017" "g.62321489C>T" "" "" "" "RTEL1(NM_001283009.1):c.2191C>T (p.H731Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63690136C>T" "" "likely benign" "" "0000570322" "0" "90" "20" "62321558" "62321558" "subst" "0" "01943" "ARFRP1_000018" "g.62321558C>T" "" "" "" "RTEL1(NM_001283009.1):c.2260C>T (p.R754*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63690205C>T" "" "pathogenic" "" "0000570323" "0" "10" "20" "62321655" "62321655" "subst" "0.738386" "01943" "RTEL1-TNFRSF6B_000053" "g.62321655G>A" "" "" "" "RTEL1(NM_001283009.1):c.2274G>A (p.A758=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63690302G>A" "" "benign" "" "0000570324" "0" "30" "20" "62321661" "62321661" "subst" "0" "01943" "ARFRP1_000019" "g.62321661C>G" "" "" "" "RTEL1(NM_001283009.1):c.2280C>G (p.A760=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63690308C>G" "" "likely benign" "" "0000570325" "0" "30" "20" "62321665" "62321665" "subst" "6.98313E-5" "02325" "ARFRP1_000020" "g.62321665C>T" "" "" "" "RTEL1(NM_001283009.2):c.2284C>T (p.R762W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63690312C>T" "" "likely benign" "" "0000570326" "0" "50" "20" "62321799" "62321799" "subst" "0" "01943" "ARFRP1_000021" "g.62321799G>A" "" "" "" "RTEL1(NM_001283009.1):c.2413+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63690446G>A" "" "VUS" "" "0000570327" "0" "30" "20" "62322152" "62322152" "subst" "0.000379654" "01804" "ARFRP1_000022" "g.62322152C>T" "" "" "" "RTEL1(NM_016434.3):c.2414-6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63690799C>T" "" "likely benign" "" "0000570328" "0" "30" "20" "62322188" "62322188" "subst" "0.00166323" "02326" "RTEL1-TNFRSF6B_000016" "g.62322188G>T" "" "" "" "RTEL1(NM_001283009.1):c.2444G>T (p.S815I), RTEL1(NM_001283009.2):c.2444G>T (p.S815I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63690835G>T" "" "likely benign" "" "0000570329" "0" "10" "20" "62322288" "62322288" "subst" "0.740714" "01943" "RTEL1-TNFRSF6B_000054" "g.62322288T>C" "" "" "" "RTEL1(NM_001283009.1):c.2544T>C (p.P848=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63690935T>C" "" "benign" "" "0000570330" "0" "30" "20" "62322290" "62322290" "subst" "0.0101521" "01804" "ARFRP1_000023" "g.62322290G>A" "" "" "" "RTEL1(NM_001283009.1):c.2546G>A (p.(Gly849Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63690937G>A" "" "likely benign" "" "0000570331" "0" "90" "20" "62323110" "62323110" "dup" "0" "01943" "ARFRP1_000024" "g.62323110dup" "" "" "" "RTEL1(NM_001283009.1):c.2572dupA (p.T858Nfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63691757dup" "" "pathogenic" "" "0000570332" "0" "30" "20" "62323162" "62323162" "subst" "6.15052E-5" "01943" "ARFRP1_000025" "g.62323162G>A" "" "" "" "RTEL1(NM_001283009.1):c.2624G>A (p.R875K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63691809G>A" "" "likely benign" "" "0000570333" "0" "30" "20" "62323203" "62323208" "del" "0" "01943" "ARFRP1_000026" "g.62323203_62323208del" "" "" "" "RTEL1(NM_001283009.1):c.2652+13_2652+18delTCCCTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63691850_63691855del" "" "likely benign" "" "0000570334" "0" "30" "20" "62324140" "62324140" "subst" "0.0021753" "02326" "ARFRP1_000027" "g.62324140C>T" "" "" "" "RTEL1(NM_001283009.2):c.2653-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63692787C>T" "" "likely benign" "" "0000570335" "0" "30" "20" "62324183" "62324183" "subst" "0.000400052" "01943" "ARFRP1_000028" "g.62324183C>T" "" "" "" "RTEL1(NM_001283009.1):c.2678C>T (p.T893M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63692830C>T" "" "likely benign" "" "0000570336" "0" "10" "20" "62324290" "62324290" "subst" "0.0273313" "01804" "RTEL1-TNFRSF6B_000057" "g.62324290G>A" "" "" "" "RTEL1(NM_001283009.1):c.2785G>A (p.A929T, p.(Ala929Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63692937G>A" "" "benign" "" "0000570338" "0" "30" "20" "62324313" "62324313" "subst" "2.03822E-5" "01943" "ARFRP1_000029" "g.62324313C>T" "" "" "" "RTEL1(NM_001283009.1):c.2808C>T (p.G936=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63692960C>T" "" "likely benign" "" "0000570339" "0" "30" "20" "62324322" "62324322" "subst" "4.07737E-6" "01943" "ARFRP1_000030" "g.62324322T>C" "" "" "" "RTEL1(NM_001283009.1):c.2817T>C (p.F939=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63692969T>C" "" "likely benign" "" "0000570340" "0" "90" "20" "62324513" "62324513" "subst" "3.26776E-5" "02327" "ARFRP1_000031" "g.62324513C>T" "" "" "" "RTEL1(NM_032957.5):c.2941C>T (p.R981W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63693160C>T" "" "pathogenic" "" "0000570341" "0" "30" "20" "62324548" "62324548" "subst" "4.08093E-6" "01943" "ARFRP1_000032" "g.62324548T>C" "" "" "" "RTEL1(NM_001283009.1):c.2904T>C (p.C968=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63693195T>C" "" "likely benign" "" "0000570342" "0" "30" "20" "62324574" "62324574" "subst" "0" "01943" "ARFRP1_000033" "g.62324574G>C" "" "" "" "RTEL1(NM_001283009.1):c.2930G>C (p.G977A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63693221G>C" "" "likely benign" "" "0000570344" "0" "90" "20" "62324600" "62324600" "subst" "8.18793E-5" "01943" "ARFRP1_000035" "g.62324600C>T" "" "" "" "RTEL1(NM_001283009.1):c.2956C>T (p.R986*), RTEL1(NM_001283010.1):c.2287C>T (p.R763*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63693247C>T" "" "pathogenic" "" "0000570345" "0" "50" "20" "62324601" "62324601" "subst" "2.45706E-5" "02327" "ARFRP1_000036" "g.62324601G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63693248G>A" "" "VUS" "" "0000570346" "0" "30" "20" "62324609" "62324609" "subst" "0.000323943" "01943" "ARFRP1_000037" "g.62324609C>T" "" "" "" "RTEL1(NM_001283009.1):c.2965C>T (p.R989W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63693256C>T" "" "likely benign" "" "0000570347" "0" "30" "20" "62324619" "62324619" "subst" "0.00147422" "01943" "ARFRP1_000038" "g.62324619C>T" "" "" "" "RTEL1(NM_001283009.1):c.2975C>T (p.P992L, p.(Pro992Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63693266C>T" "" "likely benign" "" "0000570348" "0" "90" "20" "62324637" "62324637" "subst" "4.11994E-6" "01943" "ARFRP1_000039" "g.62324637G>C" "" "" "" "RTEL1(NM_001283009.1):c.2992+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63693284G>C" "" "pathogenic" "" "0000570349" "0" "30" "20" "62325781" "62325781" "subst" "0.000263767" "01804" "ARFRP1_000040" "g.62325781G>A" "" "" "" "RTEL1(NM_016434.3):c.3049G>A (p.(Asp1017Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63694428G>A" "" "likely benign" "" "0000570350" "0" "10" "20" "62325833" "62325833" "subst" "0.0163654" "01804" "RTEL1-TNFRSF6B_000061" "g.62325833C>A" "" "" "" "RTEL1(NM_001283009.1):c.3101C>A (p.(Pro1034His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63694480C>A" "" "benign" "" "0000570351" "0" "30" "20" "62325848" "62325848" "subst" "4.19449E-6" "01943" "ARFRP1_000041" "g.62325848G>A" "" "" "" "RTEL1(NM_001283009.1):c.3109+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63694495G>A" "" "likely benign" "" "0000570352" "0" "10" "20" "62326110" "62326110" "subst" "0.750184" "01943" "RTEL1-TNFRSF6B_000063" "g.62326110A>C" "" "" "" "RTEL1(NM_001283009.1):c.3126A>C (p.Q1042H), RTEL1(NM_001283009.2):c.3126A>C (p.Q1042H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63694757A>C" "" "benign" "" "0000570353" "0" "10" "20" "62326110" "62326110" "subst" "0.750184" "02326" "RTEL1-TNFRSF6B_000063" "g.62326110A>C" "" "" "" "RTEL1(NM_001283009.1):c.3126A>C (p.Q1042H), RTEL1(NM_001283009.2):c.3126A>C (p.Q1042H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63694757A>C" "" "benign" "" "0000570354" "0" "30" "20" "62326197" "62326197" "subst" "1.22752E-5" "01943" "ARFRP1_000042" "g.62326197G>A" "" "" "" "RTEL1(NM_001283009.1):c.3213G>A (p.L1071=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63694844G>A" "" "likely benign" "" "0000570355" "0" "50" "20" "62326304" "62326304" "subst" "8.30834E-6" "01943" "ARFRP1_000043" "g.62326304C>T" "" "" "" "RTEL1(NM_001283009.1):c.3320C>T (p.P1107L), RTEL1(NM_001283009.2):c.3320C>T (p.(Pro1107Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63694951C>T" "" "VUS" "" "0000570356" "0" "10" "20" "62326487" "62326487" "subst" "0.00730412" "02327" "ARFRP1_000044" "g.62326487C>A" "" "" "" "RTEL1(NM_001283009.1):c.3412C>A (p.(Arg1138=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63695134C>A" "" "benign" "" "0000570357" "0" "30" "20" "62326733" "62326733" "subst" "1.01225E-5" "02326" "ARFRP1_000045" "g.62326733C>T" "" "" "" "RTEL1(NM_001283009.2):c.3552C>T (p.F1184=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63695380C>T" "" "likely benign" "" "0000570358" "0" "30" "20" "62326853" "62326853" "subst" "8.29043E-6" "01943" "ARFRP1_000046" "g.62326853C>G" "" "" "" "RTEL1(NM_001283009.1):c.3672C>G (p.D1224E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63695500C>G" "" "likely benign" "" "0000570359" "0" "30" "20" "62326910" "62326910" "subst" "0" "01943" "ARFRP1_000047" "g.62326910G>A" "" "" "" "RTEL1(NM_001283009.1):c.3729G>A (p.V1243=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63695557G>A" "" "likely benign" "" "0000570360" "0" "90" "20" "62326972" "62326972" "subst" "0.000139669" "02327" "ARFRP1_000048" "g.62326972G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63695619G>A" "" "pathogenic" "" "0000570361" "0" "30" "20" "62327011" "62327011" "subst" "0.000153147" "01943" "ARFRP1_000049" "g.62327011C>T" "" "" "" "RTEL1(NM_001283009.1):c.3822+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63695658C>T" "" "likely benign" "" "0000570362" "0" "30" "20" "62327126" "62327126" "subst" "0.00273281" "01804" "RTEL1-TNFRSF6B_000032" "g.62327126C>G" "" "" "" "RTEL1(NM_001283009.1):c.3823-5C>G, RTEL1(NM_001283010.1):c.2984-5C>G, RTEL1(NM_016434.3):c.3653-5C>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63695773C>G" "" "likely benign" "" "0000570363" "0" "10" "20" "62327582" "62327582" "subst" "0" "01943" "ARFRP1_000050" "g.62327582G>A" "" "" "" "RTEL1(NM_001283009.1):c.*371G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63696229G>A" "" "benign" "" "0000570364" "0" "30" "20" "62329785" "62329785" "subst" "0.000115773" "01804" "ARFRP1_000051" "g.62329785C>T" "" "" "" "TNFRSF6B(NM_003823.3):c.772C>T (p.(Arg258Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63698432C>T" "" "likely benign" "" "0000618294" "0" "50" "20" "62292835" "62292837" "dup" "0" "01943" "ARFRP1_000055" "g.62292835_62292837dup" "" "" "" "RTEL1(NM_001283009.1):c.287_289dupCTG (p.A96dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63661482_63661484dup" "" "VUS" "" "0000618295" "0" "30" "20" "62292841" "62292841" "subst" "0" "01943" "ARFRP1_000056" "g.62292841A>C" "" "" "" "RTEL1(NM_001283009.1):c.293A>C (p.D98A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63661488A>C" "" "likely benign" "" "0000618296" "0" "30" "20" "62294193" "62294193" "subst" "0.000280287" "02325" "ARFRP1_000057" "g.62294193C>T" "" "" "" "RTEL1(NM_001283009.2):c.489C>T (p.C163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63662840C>T" "" "likely benign" "" "0000618297" "0" "50" "20" "62294231" "62294231" "subst" "0" "02325" "ARFRP1_000058" "g.62294231A>G" "" "" "" "RTEL1(NM_001283009.2):c.527A>G (p.N176S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63662878A>G" "" "VUS" "" "0000618298" "0" "30" "20" "62309621" "62309621" "subst" "0.0011465" "01943" "ARFRP1_000004" "g.62309621T>C" "" "" "" "RTEL1(NM_001283009.1):c.959T>C (p.M320T, p.(Met320Thr)), RTEL1(NM_001283010.1):c.290T>C (p.M97T), RTEL1(NM_032957.5):c.1031T>C (p.M344T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63678268T>C" "" "likely benign" "" "0000618299" "0" "30" "20" "62312060" "62312060" "subst" "0" "01943" "ARFRP1_000061" "g.62312060G>A" "" "" "" "RTEL1(NM_001283009.1):c.1179G>A (p.A393=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63680707G>A" "" "likely benign" "" "0000618300" "0" "30" "20" "62319392" "62319392" "subst" "8.1582E-6" "01943" "ARFRP1_000062" "g.62319392G>A" "" "" "" "RTEL1(NM_001283009.1):c.1584G>A (p.A528=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63688039G>A" "" "likely benign" "" "0000618301" "0" "30" "20" "62322252" "62322252" "subst" "7.48815E-5" "01943" "ARFRP1_000063" "g.62322252C>T" "" "" "" "RTEL1(NM_001283009.1):c.2508C>T (p.A836=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63690899C>T" "" "likely benign" "" "0000618302" "0" "10" "20" "62324290" "62324290" "subst" "0.0273313" "01943" "RTEL1-TNFRSF6B_000057" "g.62324290G>A" "" "" "" "RTEL1(NM_001283009.1):c.2785G>A (p.A929T, p.(Ala929Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63692937G>A" "" "benign" "" "0000624189" "0" "30" "20" "62292731" "62292731" "subst" "0" "01943" "ARFRP1_000054" "g.62292731A>T" "" "" "" "RTEL1(NM_001283009.1):c.183A>T (p.E61D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63661378A>T" "" "likely benign" "" "0000624190" "0" "50" "20" "62311237" "62311237" "subst" "1.22406E-5" "01943" "ARFRP1_000059" "g.62311237C>T" "" "" "" "RTEL1(NM_001283009.1):c.1073C>T (p.T358M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63679884C>T" "" "VUS" "" "0000624191" "0" "30" "20" "62311268" "62311268" "subst" "1.63324E-5" "02326" "ARFRP1_000060" "g.62311268G>A" "" "" "" "RTEL1(NM_001283009.2):c.1104G>A (p.S368=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63679915G>A" "" "likely benign" "" "0000650823" "1" "10" "20" "62309514" "62309514" "subst" "0.0100018" "03575" "RTEL1-TNFRSF6B_000066" "g.62309514G>A" "48/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "48 heterozygous, no homozygous; {DB:CLININrs41302954}" "Germline" "" "rs41302954" "0" "" "" "g.63678161G>A" "" "benign" "" "0000650825" "1" "90" "20" "62324564" "62324564" "subst" "2.85759E-5" "03575" "RTEL1-TNFRSF6B_000068" "g.62324564C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs398123017}" "Germline" "" "rs398123017" "0" "" "" "g.63693211C>T" "" "pathogenic" "" "0000650826" "1" "10" "20" "62325833" "62325833" "subst" "0.0163654" "03575" "RTEL1-TNFRSF6B_000061" "g.62325833C>A" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs115610405}" "Germline" "" "rs115610405" "0" "" "" "g.63694480C>A" "" "benign" "" "0000650827" "1" "70" "20" "62326972" "62326972" "subst" "0.000139669" "03575" "ARFRP1_000048" "g.62326972G>A" "1/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs201540674}" "Germline" "" "rs201540674" "0" "" "" "g.63695619G>A" "" "likely pathogenic" "" "0000658799" "0" "30" "20" "62297367" "62297367" "subst" "4.0625E-6" "01943" "ARFRP1_000064" "g.62297367G>A" "" "" "" "RTEL1(NM_001283009.1):c.549G>A (p.L183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63666014G>A" "" "likely benign" "" "0000658800" "0" "30" "20" "62305387" "62305387" "subst" "0.000239818" "01943" "ARFRP1_000065" "g.62305387C>T" "" "" "" "RTEL1(NM_001283009.1):c.860C>T (p.T287I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63674034C>T" "" "likely benign" "" "0000658802" "0" "50" "20" "62309621" "62309621" "subst" "0.0011465" "02325" "ARFRP1_000004" "g.62309621T>C" "" "" "" "RTEL1(NM_001283009.1):c.959T>C (p.M320T, p.(Met320Thr)), RTEL1(NM_001283010.1):c.290T>C (p.M97T), RTEL1(NM_032957.5):c.1031T>C (p.M344T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63678268T>C" "" "VUS" "" "0000658803" "0" "50" "20" "62320931" "62320931" "subst" "0.000225303" "02325" "ARFRP1_000066" "g.62320931T>C" "" "" "" "RTEL1(NM_001283009.2):c.1955T>C (p.M652T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63689578T>C" "" "VUS" "" "0000658804" "0" "30" "20" "62324211" "62324211" "subst" "0.000517586" "02326" "RTEL1-TNFRSF6B_000020" "g.62324211C>T" "" "" "" "RTEL1(NM_001283009.1):c.2706C>T (p.A902=), RTEL1(NM_001283009.2):c.2706C>T (p.A902=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63692858C>T" "" "likely benign" "" "0000658805" "0" "90" "20" "62324600" "62324600" "subst" "8.18793E-5" "02327" "ARFRP1_000035" "g.62324600C>T" "" "" "" "RTEL1(NM_001283009.1):c.2956C>T (p.R986*), RTEL1(NM_001283010.1):c.2287C>T (p.R763*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63693247C>T" "" "pathogenic" "" "0000658806" "0" "50" "20" "62325721" "62325721" "subst" "0" "01943" "ARFRP1_000067" "g.62325721T>G" "" "" "" "RTEL1(NM_001283009.1):c.2993-4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63694368T>G" "" "VUS" "" "0000658807" "0" "30" "20" "62327184" "62327184" "subst" "4.57256E-5" "01943" "ARFRP1_000068" "g.62327184G>A" "" "" "" "RTEL1(NM_001283009.1):c.3876G>A (p.M1292I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63695831G>A" "" "likely benign" "" "0000669685" "3" "10" "20" "62309640" "62309640" "subst" "0.028231" "03575" "RTEL1-TNFRSF6B_000067" "g.62309640G>A" "2/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs41310197}" "Germline" "" "rs41310197" "0" "" "" "g.63678287G>A" "" "benign" "" "0000681688" "0" "30" "20" "62293914" "62293914" "subst" "4.06497E-6" "02326" "ARFRP1_000069" "g.62293914G>T" "" "" "" "RTEL1(NM_001283009.2):c.411G>T (p.V137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681689" "0" "50" "20" "62324510" "62324510" "subst" "4.0834E-6" "01943" "ARFRP1_000070" "g.62324510G>C" "" "" "" "RTEL1(NM_001283009.1):c.2866G>C (p.V956L, p.(Val956Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681690" "0" "30" "20" "62324619" "62324619" "subst" "0.00147422" "01804" "ARFRP1_000038" "g.62324619C>T" "" "" "" "RTEL1(NM_001283009.1):c.2975C>T (p.P992L, p.(Pro992Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681691" "0" "30" "20" "62325717" "62325719" "del" "0" "01943" "ARFRP1_000071" "g.62325717_62325719del" "" "" "" "RTEL1(NM_001283009.1):c.2993-8_2993-6delTTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681692" "0" "30" "20" "62325859" "62325859" "subst" "3.43855E-5" "02326" "ARFRP1_000072" "g.62325859C>T" "" "" "" "RTEL1(NM_001283009.2):c.3109+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693023" "0" "30" "20" "62325754" "62325754" "subst" "0.000201904" "01943" "ARFRP1_000073" "g.62325754G>A" "" "" "" "RTEL1(NM_001283009.1):c.3022G>A (p.V1008M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727847" "0" "30" "20" "62292856" "62292856" "subst" "0.000649893" "01943" "ARFRP1_000074" "g.62292856C>T" "" "" "" "RTEL1(NM_001283009.1):c.301+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727848" "0" "30" "20" "62309611" "62309611" "subst" "0.000603579" "01943" "ARFRP1_000075" "g.62309611C>T" "" "" "" "RTEL1(NM_001283009.1):c.959-10C>T, RTEL1(NM_001283010.1):c.290-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727849" "0" "10" "20" "62316944" "62316944" "subst" "0.00121548" "02326" "ARFRP1_000076" "g.62316944C>T" "" "" "" "RTEL1(NM_001283009.2):c.1260C>T (p.S420=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000727850" "0" "30" "20" "62317231" "62317231" "subst" "0.000272055" "02326" "ARFRP1_000006" "g.62317231G>A" "" "" "" "RTEL1(NM_001283009.1):c.1348+6G>A, RTEL1(NM_001283009.2):c.1348+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727851" "0" "30" "20" "62319283" "62319283" "subst" "0.000200144" "01943" "ARFRP1_000077" "g.62319283C>T" "" "" "" "RTEL1(NM_001283009.1):c.1482-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727852" "0" "30" "20" "62319356" "62319356" "subst" "0.000966448" "02326" "RTEL1-TNFRSF6B_000013" "g.62319356C>T" "" "" "" "RTEL1(NM_001283009.1):c.1548C>T (p.V516=), RTEL1(NM_001283009.2):c.1548C>T (p.V516=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727853" "0" "30" "20" "62319390" "62319390" "subst" "1.63172E-5" "01943" "ARFRP1_000078" "g.62319390G>A" "" "" "" "RTEL1(NM_001283009.1):c.1582G>A (p.A528T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727854" "0" "90" "20" "62321122" "62321122" "subst" "0" "01943" "ARFRP1_000079" "g.62321122G>A" "" "" "" "RTEL1(NM_001283009.1):c.2045G>A (p.W682*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000727855" "0" "30" "20" "62325731" "62325731" "subst" "0.000144242" "01943" "ARFRP1_000080" "g.62325731C>T" "" "" "" "RTEL1(NM_001283009.1):c.2999C>T (p.T1000M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727856" "0" "10" "20" "62326487" "62326487" "subst" "0.00730412" "01804" "ARFRP1_000044" "g.62326487C>A" "" "" "" "RTEL1(NM_001283009.1):c.3412C>A (p.(Arg1138=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000809343" "0" "50" "20" "62290784" "62290784" "subst" "4.06144E-6" "02325" "ARFRP1_000081" "g.62290784C>T" "" "" "" "RTEL1(NM_032957.5):c.29C>T (p.T10I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809344" "0" "50" "20" "62305431" "62305431" "subst" "0" "02325" "ARFRP1_000082" "g.62305431G>T" "" "" "" "RTEL1(NM_032957.5):c.976G>T (p.D326Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809345" "0" "50" "20" "62319116" "62319116" "subst" "0" "01943" "ARFRP1_000083" "g.62319116A>T" "" "" "" "RTEL1(NM_001283009.1):c.1474A>T (p.M492L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809346" "0" "50" "20" "62324514" "62324514" "subst" "8.16733E-6" "01943" "ARFRP1_000084" "g.62324514G>A" "" "" "" "RTEL1(NM_001283009.1):c.2870G>A (p.R957Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809347" "0" "30" "20" "62326113" "62326113" "subst" "0.000269598" "01943" "ARFRP1_000085" "g.62326113A>G" "" "" "" "RTEL1(NM_001283009.1):c.3129A>G (p.P1043=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809348" "0" "30" "20" "62326205" "62326205" "subst" "6.95974E-5" "01943" "ARFRP1_000086" "g.62326205C>T" "" "" "" "RTEL1(NM_001283009.1):c.3221C>T (p.A1074V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809349" "0" "50" "20" "62326455" "62326455" "subst" "1.66619E-5" "02325" "ARFRP1_000087" "g.62326455G>A" "" "" "" "RTEL1(NM_032957.5):c.3452G>A (p.R1151H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809350" "0" "30" "20" "62326704" "62326704" "subst" "4.13381E-5" "01943" "ARFRP1_000088" "g.62326704G>A" "" "" "" "RTEL1(NM_001283009.1):c.3523G>A (p.G1175R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855937" "0" "30" "20" "62305432" "62305432" "subst" "2.05499E-5" "01943" "ARFRP1_000093" "g.62305432A>G" "" "" "" "RTEL1(NM_001283009.1):c.905A>G (p.D302G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855938" "0" "30" "20" "62318977" "62318977" "subst" "0.000727846" "02326" "ARFRP1_000094" "g.62318977C>T" "" "" "" "RTEL1(NM_001283010.1):c.680-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855939" "0" "30" "20" "62318978" "62318978" "subst" "0.000717546" "02326" "ARFRP1_000095" "g.62318978C>T" "" "" "" "RTEL1(NM_001283010.1):c.680-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855940" "0" "30" "20" "62325735" "62325735" "subst" "5.35729E-5" "01943" "ARFRP1_000096" "g.62325735G>A" "" "" "" "RTEL1(NM_001283009.1):c.3003G>A (p.A1001=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855941" "0" "30" "20" "62326187" "62326187" "subst" "0.000216835" "01943" "ARFRP1_000097" "g.62326187G>A" "" "" "" "RTEL1(NM_001283009.1):c.3203G>A (p.R1068H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866585" "0" "50" "20" "62294245" "62294245" "subst" "0.00012998" "01943" "ARFRP1_000089" "g.62294245A>G" "" "" "" "RTEL1(NM_001283009.1):c.538+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866586" "0" "30" "20" "62298818" "62298818" "subst" "8.12163E-6" "02325" "ARFRP1_000090" "g.62298818C>T" "" "" "" "RTEL1(NM_032957.5):c.687-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866587" "0" "10" "20" "62305313" "62305313" "subst" "0.0120026" "01804" "ARFRP1_000091" "g.62305313G>A" "" "" "" "RTEL1(NM_016434.3):c.786G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000866588" "0" "10" "20" "62305406" "62305406" "subst" "0.0137045" "01804" "ARFRP1_000092" "g.62305406T>C" "" "" "" "RTEL1(NM_016434.3):c.879T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000866589" "0" "10" "20" "62309640" "62309640" "subst" "0.028231" "01943" "RTEL1-TNFRSF6B_000067" "g.62309640G>A" "" "" "" "RTEL1(NM_001283009.1):c.978G>A (p.E326=, p.(Glu326=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000866590" "0" "10" "20" "62309640" "62309640" "subst" "0.028231" "01804" "RTEL1-TNFRSF6B_000067" "g.62309640G>A" "" "" "" "RTEL1(NM_001283009.1):c.978G>A (p.E326=, p.(Glu326=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000866591" "0" "10" "20" "62319919" "62319919" "subst" "0.00364656" "01804" "RTEL1-TNFRSF6B_000015" "g.62319919G>A" "" "" "" "RTEL1(NM_001283009.1):c.1761G>A (p.P587=, p.(Pro587=)), RTEL1(NM_001283009.2):c.1761G>A (p.P587=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000866592" "0" "50" "20" "62324212" "62324212" "subst" "4.07511E-6" "01943" "RTEL1-TNFRSF6B_000055" "g.62324212G>A" "" "" "" "RTEL1(NM_001283009.1):c.2707G>A (p.V903M, p.(Val903Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866593" "0" "30" "20" "62326498" "62326498" "subst" "0.00155843" "01804" "RTEL1-TNFRSF6B_000028" "g.62326498G>A" "" "" "" "RTEL1(NM_001283009.1):c.3423G>A (p.P1141=, p.(Pro1141=)), RTEL1(NM_001283010.1):c.2754G>A (p.P918=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895429" "0" "30" "20" "62293273" "62293273" "subst" "0.000320802" "02326" "ARFRP1_000002" "g.62293273C>T" "" "" "" "RTEL1(NM_001283009.1):c.372C>T (p.N124=), RTEL1(NM_001283009.2):c.372C>T (p.N124=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895430" "0" "30" "20" "62316863" "62316863" "subst" "0.000197628" "02326" "ARFRP1_000098" "g.62316863C>T" "" "" "" "RTEL1(NM_001283010.1):c.523-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895431" "0" "10" "20" "62316867" "62316867" "del" "0.0024864" "02326" "ARFRP1_000099" "g.62316867del" "" "" "" "RTEL1(NM_001283010.1):c.523-9delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000895432" "0" "30" "20" "62319389" "62319389" "subst" "0.000175411" "02326" "ARFRP1_000100" "g.62319389C>T" "" "" "" "RTEL1(NM_001283010.1):c.912C>T (p.S304=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895433" "0" "30" "20" "62320470" "62320470" "subst" "5.76616E-5" "02326" "ARFRP1_000101" "g.62320470G>A" "" "" "" "RTEL1(NM_001283010.1):c.1194G>A (p.A398=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895434" "0" "50" "20" "62324221" "62324221" "subst" "4.07468E-6" "02325" "ARFRP1_000102" "g.62324221G>A" "" "" "" "RTEL1(NM_032957.5):c.2788G>A (p.E930K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895435" "0" "30" "20" "62324323" "62324323" "subst" "1.63107E-5" "02326" "ARFRP1_000103" "g.62324323G>A" "" "" "" "RTEL1(NM_001283010.1):c.2149G>A (p.A717T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895436" "0" "30" "20" "62324542" "62324542" "subst" "0.00134678" "02326" "RTEL1-TNFRSF6B_000026" "g.62324542G>C" "" "" "" "RTEL1(NM_001283009.1):c.2898G>C (p.E966D), RTEL1(NM_001283010.1):c.2229G>C (p.E743D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895437" "0" "30" "20" "62324559" "62324559" "subst" "0.000257137" "02326" "ARFRP1_000104" "g.62324559C>T" "" "" "" "RTEL1(NM_001283010.1):c.2246C>T (p.T749I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895438" "0" "50" "20" "62324579" "62324579" "subst" "0.000102131" "02325" "ARFRP1_000105" "g.62324579C>T" "" "" "" "RTEL1(NM_001283009.1):c.2935C>T (p.(Arg979Trp)), RTEL1(NM_032957.5):c.3007C>T (p.R1003W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895439" "0" "30" "20" "62324644" "62324644" "subst" "0" "02326" "ARFRP1_000106" "g.62324644G>C" "" "" "" "RTEL1(NM_001283010.1):c.2323+8G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915431" "0" "30" "20" "62309611" "62309611" "subst" "0.000603579" "02326" "ARFRP1_000075" "g.62309611C>T" "" "" "" "RTEL1(NM_001283009.1):c.959-10C>T, RTEL1(NM_001283010.1):c.290-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915432" "0" "30" "20" "62312070" "62312070" "subst" "0.000593926" "02326" "ARFRP1_000005" "g.62312070C>G" "" "" "" "RTEL1(NM_001283009.1):c.1189C>G (p.Q397E), RTEL1(NM_001283010.1):c.520C>G (p.Q174E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915433" "0" "50" "20" "62323150" "62323150" "subst" "0.000118705" "02327" "ARFRP1_000107" "g.62323150C>T" "" "" "" "RTEL1(NM_001283009.1):c.2612C>T (p.(Pro871Leu)), RTEL1(NM_032957.5):c.2684C>T (p.P895L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915434" "0" "30" "20" "62327126" "62327126" "subst" "0.00273281" "02326" "RTEL1-TNFRSF6B_000032" "g.62327126C>G" "" "" "" "RTEL1(NM_001283009.1):c.3823-5C>G, RTEL1(NM_001283010.1):c.2984-5C>G, RTEL1(NM_016434.3):c.3653-5C>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000920311" "21" "50" "20" "62321160" "62321160" "subst" "0" "00006" "RTEL1_000002" "g.62321160A>T" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "" "Germline" "" "" "0" "" "" "g.63689807A>T" "" "VUS" "ACMG" "0000920359" "11" "90" "20" "62292738" "62292738" "subst" "0" "00006" "RTEL1_000001" "g.62292738C>T" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "" "Germline" "" "" "0" "" "" "g.63661385C>T" "" "pathogenic" "ACMG" "0000920363" "1" "50" "20" "62322289" "62322289" "subst" "6.65664E-5" "00006" "RTEL1_000003" "g.62322289G>A" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "potential disease-modifying variant" "Germline" "" "" "0" "" "" "g.63690936G>A" "" "VUS" "ACMG" "0000927048" "0" "30" "20" "62293308" "62293308" "subst" "0.00161311" "01804" "RTEL1-TNFRSF6B_000005" "g.62293308G>A" "" "" "" "RTEL1(NM_001283009.2):c.395+12G>A, RTEL1(NM_016434.3):c.395+12G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927049" "0" "30" "20" "62311187" "62311187" "subst" "0.000284236" "02326" "ARFRP1_000108" "g.62311187T>C" "" "" "" "RTEL1(NM_001283010.1):c.369-15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927050" "0" "30" "20" "62319277" "62319277" "subst" "4.0862E-6" "02326" "ARFRP1_000109" "g.62319277T>C" "" "" "" "RTEL1(NM_001283010.1):c.813-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927051" "0" "10" "20" "62319885" "62319885" "subst" "0.0011751" "02326" "ARFRP1_000011" "g.62319885G>A" "" "" "" "RTEL1(NM_001283009.1):c.1727G>A (p.R576H), RTEL1(NM_001283010.1):c.1058G>A (p.R353H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000927052" "0" "30" "20" "62320839" "62320839" "subst" "2.73982E-5" "02326" "ARFRP1_000110" "g.62320839C>G" "" "" "" "RTEL1(NM_001283010.1):c.1210-16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927053" "0" "30" "20" "62324166" "62324166" "subst" "0.0011291" "02326" "RTEL1-TNFRSF6B_000018" "g.62324166C>T" "" "" "" "RTEL1(NM_001283009.1):c.2661C>T (p.P887=), RTEL1(NM_001283010.1):c.1992C>T (p.P664=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927054" "0" "30" "20" "62324292" "62324292" "subst" "0.000598993" "02326" "RTEL1-TNFRSF6B_000022" "g.62324292C>T" "" "" "" "RTEL1(NM_001283009.1):c.2787C>T (p.A929=), RTEL1(NM_001283010.1):c.2118C>T (p.A706=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927055" "0" "30" "20" "62324310" "62324310" "subst" "0.00190337" "02326" "RTEL1-TNFRSF6B_000023" "g.62324310C>T" "" "" "" "RTEL1(NM_001283009.1):c.2805C>T (p.L935=), RTEL1(NM_001283010.1):c.2136C>T (p.L712=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927056" "0" "30" "20" "62326113" "62326113" "subst" "4.14766E-5" "02326" "ARFRP1_000111" "g.62326113A>C" "" "" "" "RTEL1(NM_001283010.1):c.2460A>C (p.P820=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931206" "0" "30" "20" "62292793" "62292793" "subst" "0" "02326" "ARFRP1_000112" "g.62292793C>T" "" "" "" "RTEL1(NM_001283009.2):c.245C>T (p.P82L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931207" "0" "30" "20" "62309621" "62309621" "subst" "0.0011465" "02326" "ARFRP1_000004" "g.62309621T>C" "" "" "" "RTEL1(NM_001283009.1):c.959T>C (p.M320T, p.(Met320Thr)), RTEL1(NM_001283010.1):c.290T>C (p.M97T), RTEL1(NM_032957.5):c.1031T>C (p.M344T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931208" "0" "50" "20" "62316946" "62316946" "subst" "0" "02325" "ARFRP1_000113" "g.62316946A>G" "" "" "" "RTEL1(NM_032957.5):c.1334A>G (p.Y445C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951486" "0" "50" "20" "62323150" "62323150" "subst" "0.000118705" "02325" "ARFRP1_000107" "g.62323150C>T" "" "" "" "RTEL1(NM_001283009.1):c.2612C>T (p.(Pro871Leu)), RTEL1(NM_032957.5):c.2684C>T (p.P895L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951487" "0" "30" "20" "62323194" "62323194" "subst" "0.000154119" "02325" "ARFRP1_000114" "g.62323194C>T" "" "" "" "RTEL1(NM_001283009.2):c.2652+4C>T, RTEL1(NM_032957.5):c.2724+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951488" "0" "90" "20" "62324513" "62324513" "subst" "3.26776E-5" "02325" "ARFRP1_000031" "g.62324513C>T" "" "" "" "RTEL1(NM_032957.5):c.2941C>T (p.R981W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000970244" "0" "50" "20" "62294226" "62294226" "subst" "0" "02325" "ARFRP1_000115" "g.62294226C>A" "" "" "" "RTEL1(NM_032957.5):c.594C>A (p.F198L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000970247" "0" "30" "20" "62320440" "62320440" "subst" "0.00037285" "02327" "ARFRP1_000013" "g.62320440C>T" "" "" "" "RTEL1(NM_001283009.1):c.1833C>T (p.A611=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983922" "0" "50" "20" "62293235" "62293235" "subst" "0.000162425" "01804" "ARFRP1_000116" "g.62293235G>A" "" "" "" "RTEL1(NM_001283009.2):c.334G>A (p.(Ala112Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983923" "0" "50" "20" "62297418" "62297418" "subst" "6.09409E-5" "01804" "ARFRP1_000117" "g.62297418C>A" "" "" "" "RTEL1(NM_001283009.2):c.600C>A (p.(Ser200Arg)), RTEL1(NM_032957.5):c.672C>A (p.S224R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983924" "0" "50" "20" "62305329" "62305329" "subst" "4.066E-6" "01804" "ARFRP1_000118" "g.62305329A>G" "" "" "" "RTEL1(NM_001283009.2):c.802A>G (p.(Thr268Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983925" "0" "50" "20" "62320477" "62320477" "subst" "0" "01804" "ARFRP1_000119" "g.62320477C>T" "" "" "" "RTEL1(NM_001283009.2):c.1870C>T (p.(Arg624Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983926" "0" "50" "20" "62323194" "62323194" "subst" "0.000154119" "01804" "ARFRP1_000114" "g.62323194C>T" "" "" "" "RTEL1(NM_001283009.2):c.2652+4C>T, RTEL1(NM_032957.5):c.2724+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983927" "0" "50" "20" "62325761" "62325761" "subst" "4.12167E-6" "02325" "ARFRP1_000120" "g.62325761C>T" "" "" "" "RTEL1(NM_032957.5):c.3101C>T (p.T1034M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983928" "0" "30" "20" "62325788" "62325788" "subst" "0.000964535" "01804" "RTEL1-TNFRSF6B_000060" "g.62325788A>G" "" "" "" "RTEL1(NM_001283009.2):c.3056A>G (p.(Gln1019Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983929" "0" "30" "20" "62326206" "62326206" "subst" "0.000225069" "01804" "ARFRP1_000121" "g.62326206G>A" "" "" "" "RTEL1(NM_001283009.2):c.3222G>A (p.(Ala1074=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983930" "0" "50" "20" "62326261" "62326261" "subst" "4.1194E-5" "01804" "ARFRP1_000122" "g.62326261G>A" "" "" "" "RTEL1(NM_001283009.2):c.3277G>A (p.(Asp1093Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005576" "0" "50" "20" "62292738" "62292738" "subst" "0" "01804" "RTEL1_000001" "g.62292738C>T" "" "" "" "RTEL1(NM_001283009.1):c.190C>T (p.(Arg64*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005577" "0" "30" "20" "62297358" "62297358" "subst" "4.06352E-6" "01804" "ARFRP1_000123" "g.62297358A>T" "" "" "" "RTEL1(NM_001283009.1):c.540A>T (p.(Glu180Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005578" "0" "30" "20" "62297360" "62297360" "subst" "0" "01804" "ARFRP1_000124" "g.62297360A>G" "" "" "" "RTEL1(NM_001283009.1):c.542A>G (p.(Lys181Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005579" "0" "30" "20" "62305451" "62305451" "subst" "4.19094E-6" "01804" "ARFRP1_000125" "g.62305451G>A" "" "" "" "RTEL1(NM_001283009.1):c.919+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005580" "0" "30" "20" "62309525" "62309525" "subst" "0" "01804" "ARFRP1_000126" "g.62309525C>T" "" "" "" "RTEL1(NM_001283009.1):c.947C>T (p.(Ala316Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005581" "0" "30" "20" "62319047" "62319047" "subst" "0" "01804" "ARFRP1_000127" "g.62319047C>T" "" "" "" "RTEL1(NM_001283009.1):c.1405C>T (p.(Arg469Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005582" "0" "50" "20" "62319905" "62319905" "subst" "0" "01804" "ARFRP1_000128" "g.62319905G>C" "" "" "" "RTEL1(NM_001283009.1):c.1747G>C (p.(Glu583Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005583" "0" "30" "20" "62320409" "62320409" "subst" "0" "01804" "ARFRP1_000129" "g.62320409C>G" "" "" "" "RTEL1(NM_001283009.1):c.1802C>G (p.(Thr601Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005584" "0" "50" "20" "62320928" "62320928" "subst" "1.23015E-5" "01804" "ARFRP1_000130" "g.62320928G>T" "" "" "" "RTEL1(NM_001283009.1):c.1952G>T (p.(Arg651Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005585" "0" "30" "20" "62321444" "62321444" "subst" "0" "01804" "ARFRP1_000131" "g.62321444G>T" "" "" "" "RTEL1(NM_001283009.1):c.2146G>T (p.(Ala716Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005586" "0" "50" "20" "62323150" "62323150" "subst" "0.000118705" "01804" "ARFRP1_000107" "g.62323150C>T" "" "" "" "RTEL1(NM_001283009.1):c.2612C>T (p.(Pro871Leu)), RTEL1(NM_032957.5):c.2684C>T (p.P895L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005587" "0" "50" "20" "62324212" "62324212" "subst" "4.07511E-6" "01804" "RTEL1-TNFRSF6B_000055" "g.62324212G>A" "" "" "" "RTEL1(NM_001283009.1):c.2707G>A (p.V903M, p.(Val903Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005588" "0" "50" "20" "62324510" "62324510" "subst" "4.0834E-6" "01804" "ARFRP1_000070" "g.62324510G>C" "" "" "" "RTEL1(NM_001283009.1):c.2866G>C (p.V956L, p.(Val956Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005589" "0" "50" "20" "62324579" "62324579" "subst" "0.000102131" "01804" "ARFRP1_000105" "g.62324579C>T" "" "" "" "RTEL1(NM_001283009.1):c.2935C>T (p.(Arg979Trp)), RTEL1(NM_032957.5):c.3007C>T (p.R1003W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005590" "0" "30" "20" "62324585" "62324585" "subst" "8.17341E-6" "01804" "ARFRP1_000132" "g.62324585G>A" "" "" "" "RTEL1(NM_001283009.1):c.2941G>A (p.(Glu981Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005591" "0" "50" "20" "62325806" "62325806" "subst" "4.12626E-6" "02325" "ARFRP1_000133" "g.62325806G>T" "" "" "" "RTEL1(NM_032957.5):c.3146G>T (p.G1049V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005592" "0" "30" "20" "62326186" "62326186" "subst" "1.63602E-5" "01804" "ARFRP1_000134" "g.62326186C>T" "" "" "" "RTEL1(NM_001283009.1):c.3202C>T (p.(Arg1068Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005593" "0" "30" "20" "62326262" "62326262" "subst" "4.11885E-5" "01804" "ARFRP1_000135" "g.62326262A>G" "" "" "" "RTEL1(NM_001283009.1):c.3278A>G (p.(Asp1093Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005594" "0" "50" "20" "62326484" "62326484" "subst" "2.07483E-5" "01804" "ARFRP1_000136" "g.62326484G>A" "" "" "" "RTEL1(NM_001283009.1):c.3409G>A (p.(Gly1137Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005595" "0" "30" "20" "62326498" "62326498" "subst" "0.00155843" "02326" "RTEL1-TNFRSF6B_000028" "g.62326498G>A" "" "" "" "RTEL1(NM_001283009.1):c.3423G>A (p.P1141=, p.(Pro1141=)), RTEL1(NM_001283010.1):c.2754G>A (p.P918=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005596" "0" "30" "20" "62326728" "62326728" "subst" "5.16828E-6" "01804" "ARFRP1_000137" "g.62326728T>A" "" "" "" "RTEL1(NM_001283009.1):c.3547T>A (p.(Ser1183Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005597" "0" "30" "20" "62326867" "62326867" "subst" "1.23724E-5" "01804" "ARFRP1_000138" "g.62326867A>G" "" "" "" "RTEL1(NM_001283009.1):c.3686A>G (p.(Gln1229Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005598" "0" "30" "20" "62326874" "62326874" "subst" "0.00263624" "02326" "ARFRP1_000139" "g.62326874G>A" "" "" "" "RTEL1(NM_001283009.2):c.3693G>A (p.T1231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015880" "0" "90" "20" "62324600" "62324600" "subst" "8.18793E-5" "02326" "ARFRP1_000035" "g.62324600C>T" "" "" "" "RTEL1(NM_001283009.1):c.2956C>T (p.R986*), RTEL1(NM_001283010.1):c.2287C>T (p.R763*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001027338" "0" "50" "20" "62294222" "62294222" "subst" "0" "02325" "ARFRP1_000140" "g.62294222A>G" "" "" "" "RTEL1(NM_032957.5):c.590A>G (p.H197R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043522" "0" "50" "20" "62297418" "62297418" "subst" "6.09409E-5" "02325" "ARFRP1_000117" "g.62297418C>A" "" "" "" "RTEL1(NM_001283009.2):c.600C>A (p.(Ser200Arg)), RTEL1(NM_032957.5):c.672C>A (p.S224R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043523" "0" "10" "20" "62309679" "62309679" "subst" "0.00350217" "01804" "RTEL1-TNFRSF6B_000011" "g.62309679C>T" "" "" "" "RTEL1(NM_001283009.1):c.1017C>T (p.S339=), RTEL1(NM_001283009.2):c.1017C>T (p.(Ser339=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001043524" "0" "50" "20" "62323138" "62323138" "subst" "0.000449854" "01804" "ARFRP1_000141" "g.62323138C>T" "" "" "" "RTEL1(NM_001283009.2):c.2600C>T (p.(Pro867Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043525" "0" "30" "20" "62324280" "62324280" "subst" "0.00831127" "01804" "RTEL1-TNFRSF6B_000021" "g.62324280C>T" "" "" "" "RTEL1(NM_001283009.1):c.2775C>T (p.S925=), RTEL1(NM_001283009.2):c.2775C>T (p.(Ser925=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043526" "0" "10" "20" "62324328" "62324328" "subst" "0.00767599" "01804" "ARFRP1_000142" "g.62324328G>C" "" "" "" "RTEL1(NM_001283009.2):c.2823G>C (p.(Glu941Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001043527" "0" "30" "20" "62325032" "62325032" "subst" "0" "01804" "ARFRP1_000143" "g.62325032C>G" "" "" "" "RTEL1(NM_001283009.2):c.2992+396C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043528" "0" "70" "20" "62326911" "62326911" "subst" "2.0477E-5" "02327" "ARFRP1_000144" "g.62326911T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001043529" "0" "50" "20" "62326964" "62326964" "subst" "4.51034E-5" "01804" "ARFRP1_000145" "g.62326964C>G" "" "" "" "RTEL1(NM_001283009.2):c.3783C>G (p.(Asp1261Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056979" "0" "50" "20" "62292756" "62292756" "subst" "0" "01804" "ARFRP1_000146" "g.62292756C>T" "" "" "" "RTEL1(NM_001283009.2):c.208C>T (p.(Arg70Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056980" "0" "50" "20" "62293251" "62293251" "subst" "4.06068E-6" "01804" "ARFRP1_000147" "g.62293251C>T" "" "" "" "RTEL1(NM_001283009.2):c.350C>T (p.(Ser117Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056981" "0" "50" "20" "62322217" "62322217" "subst" "0" "01804" "ARFRP1_000148" "g.62322217G>A" "" "" "" "RTEL1(NM_001283009.2):c.2473G>A (p.(Val825Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056982" "0" "50" "20" "62326304" "62326304" "subst" "8.30834E-6" "01804" "ARFRP1_000043" "g.62326304C>T" "" "" "" "RTEL1(NM_001283009.1):c.3320C>T (p.P1107L), RTEL1(NM_001283009.2):c.3320C>T (p.(Pro1107Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001067380" "0" "50" "20" "62297372" "62297372" "subst" "2.4372E-5" "02325" "ARFRP1_000149" "g.62297372A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001067381" "0" "70" "20" "62316953" "62317030" "del" "0" "02325" "ARFRP1_000150" "g.62316953_62317030del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001067382" "0" "30" "20" "62319129" "62319129" "subst" "1.16797E-5" "02325" "ARFRP1_000151" "g.62319129G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001067383" "0" "50" "20" "62319905" "62319905" "subst" "0" "02325" "ARFRP1_000128" "g.62319905G>C" "" "" "" "RTEL1(NM_001283009.1):c.1747G>C (p.(Glu583Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001067384" "0" "30" "20" "62324183" "62324183" "subst" "0.000400052" "02325" "ARFRP1_000028" "g.62324183C>T" "" "" "" "RTEL1(NM_001283009.1):c.2678C>T (p.T893M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001067385" "0" "50" "20" "62324506" "62324506" "subst" "0" "01804" "RTEL1-TNFRSF6B_000025" "g.62324506G>C" "" "" "" "RTEL1(NM_001283009.1):c.2862G>C (p.Q954H), RTEL1(NM_001283009.2):c.2862G>C (p.(Gln954His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001067386" "0" "90" "20" "62324600" "62324600" "subst" "8.18793E-5" "02325" "ARFRP1_000035" "g.62324600C>T" "" "" "" "RTEL1(NM_001283009.1):c.2956C>T (p.R986*), RTEL1(NM_001283010.1):c.2287C>T (p.R763*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001067387" "0" "30" "20" "62325079" "62325079" "subst" "0" "01804" "ARFRP1_000152" "g.62325079A>T" "" "" "" "RTEL1(NM_001283009.2):c.2992+443A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001067388" "0" "50" "20" "62326270" "62326270" "subst" "1.64919E-5" "02325" "ARFRP1_000153" "g.62326270C>G" "" "" "" "" "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 RTEL1 ## Count = 280 "{{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}}" "0000301511" "00024069" "30" "395" "12" "395" "12" "c.395+12G>A" "r.(=)" "p.(=)" "" "0000307395" "00024069" "30" "1011" "0" "1011" "0" "c.1011C>T" "r.(?)" "p.(Asp337=)" "" "0000307396" "00024069" "30" "1017" "0" "1017" "0" "c.1017C>T" "r.(?)" "p.(Ser339=)" "" "0000307397" "00024069" "30" "108" "0" "108" "0" "c.108G>C" "r.(?)" "p.(Val36=)" "" "0000307398" "00024069" "50" "1374" "0" "1374" "0" "c.1374C>G" "r.(?)" "p.(Phe458Leu)" "" "0000307399" "00024069" "50" "152" "0" "152" "0" "c.152G>C" "r.(?)" "p.(Cys51Ser)" "" "0000307400" "00024069" "10" "1548" "0" "1548" "0" "c.1548C>T" "r.(?)" "p.(Val516=)" "" "0000307401" "00024069" "30" "1659" "0" "1659" "0" "c.1659C>A" "r.(?)" "p.(Pro553=)" "" "0000307402" "00024069" "50" "173" "0" "173" "0" "c.173C>G" "r.(?)" "p.(Ala58Gly)" "" "0000307403" "00024069" "30" "1761" "0" "1761" "0" "c.1761G>A" "r.(?)" "p.(Pro587=)" "" "0000307404" "00024069" "30" "2444" "0" "2444" "0" "c.2444G>T" "r.(?)" "p.(Ser815Ile)" "" "0000307405" "00024069" "30" "2548" "0" "2548" "0" "c.2548G>A" "r.(?)" "p.(Glu850Lys)" "" "0000307406" "00024069" "30" "2661" "0" "2661" "0" "c.2661C>T" "r.(?)" "p.(Pro887=)" "" "0000307407" "00024069" "30" "2662" "0" "2662" "0" "c.2662G>C" "r.(?)" "p.(Val888Leu)" "" "0000307408" "00024069" "30" "2706" "0" "2706" "0" "c.2706C>T" "r.(?)" "p.(Ala902=)" "" "0000307409" "00024069" "10" "2775" "0" "2775" "0" "c.2775C>T" "r.(?)" "p.(Ser925=)" "" "0000307410" "00024069" "30" "2787" "0" "2787" "0" "c.2787C>T" "r.(?)" "p.(Ala929=)" "" "0000307411" "00024069" "30" "2805" "0" "2805" "0" "c.2805C>T" "r.(?)" "p.(Leu935=)" "" "0000307412" "00024069" "30" "2811" "0" "2811" "0" "c.2811C>T" "r.(?)" "p.(Pro937=)" "" "0000307413" "00024069" "50" "2862" "0" "2862" "0" "c.2862G>C" "r.(?)" "p.(Gln954His)" "" "0000307414" "00024069" "10" "2898" "0" "2898" "0" "c.2898G>C" "r.(?)" "p.(Glu966Asp)" "" "0000307415" "00024069" "30" "3283" "0" "3283" "0" "c.3283G>A" "r.(?)" "p.(Val1095Met)" "" "0000307416" "00024069" "30" "3423" "0" "3423" "0" "c.3423G>A" "r.(?)" "p.(Pro1141=)" "" "0000307417" "00024069" "30" "3522" "0" "3522" "0" "c.3522C>T" "r.(?)" "p.(Thr1174=)" "" "0000307418" "00024069" "10" "3652" "40" "3652" "40" "c.3652+40C>T" "r.(=)" "p.(=)" "" "0000307419" "00024069" "30" "3653" "-5" "3653" "-5" "c.3653-5C>G" "r.spl?" "p.?" "" "0000307420" "00024069" "30" "3653" "-9" "3653" "-9" "c.3653-9G>A" "r.(=)" "p.(=)" "" "0000307421" "00024069" "30" "396" "-37" "396" "-37" "c.396-37C>T" "r.(=)" "p.(=)" "" "0000307422" "00024069" "50" "638" "0" "638" "0" "c.638G>A" "r.(?)" "p.(Arg213Gln)" "" "0000307423" "00024069" "50" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Arg235Cys)" "" "0000307424" "00024069" "30" "744" "0" "744" "0" "c.744C>T" "r.(?)" "p.(Ile248=)" "" "0000338537" "00024069" "10" "-93" "0" "-93" "0" "c.-93C>T" "r.(?)" "p.(=)" "" "0000338538" "00024069" "30" "-59" "0" "-59" "0" "c.-59A>C" "r.(?)" "p.(=)" "" "0000338539" "00024069" "10" "477" "82" "477" "82" "c.477+82G>A" "r.(=)" "p.(=)" "" "0000338540" "00024069" "10" "478" "-88" "478" "-88" "c.478-88T>C" "r.(=)" "p.(=)" "" "0000338541" "00024069" "10" "766" "-19" "766" "-19" "c.766-19G>A" "r.(=)" "p.(=)" "" "0000338542" "00024069" "10" "958" "18" "958" "18" "c.958+18C>T" "r.(=)" "p.(=)" "" "0000338544" "00024069" "10" "1482" "-6" "1482" "-6" "c.1482-6G>A" "r.(=)" "p.(=)" "" "0000338545" "00024069" "10" "1596" "-28" "1596" "-28" "c.1596-28T>C" "r.(=)" "p.(=)" "" "0000338546" "00024069" "10" "1637" "-50" "1637" "-50" "c.1637-50A>C" "r.(=)" "p.(=)" "" "0000338547" "00024069" "10" "2026" "-30" "2026" "-30" "c.2026-30C>T" "r.(=)" "p.(=)" "" "0000338549" "00024069" "10" "2851" "35" "2851" "35" "c.2851+35G>A" "r.(=)" "p.(=)" "" "0000338550" "00024069" "30" "3110" "-18" "3110" "-18" "c.3110-18A>C" "r.(=)" "p.(=)" "" "0000338551" "00024069" "10" "3499" "5" "3499" "5" "c.3499+5G>T" "r.spl?" "p.?" "" "0000338552" "00024069" "30" "3653" "-5" "3653" "-5" "c.3653-5C>G" "r.spl?" "p.?" "" "0000339094" "00024069" "70" "416" "0" "416" "0" "c.416G>A" "r.(?)" "p.(Gly139Asp)" "" "0000340338" "00024069" "10" "2544" "0" "2544" "0" "c.2544T>C" "r.(?)" "p.(Pro848=)" "" "0000340339" "00024069" "10" "2784" "0" "2784" "0" "c.2784C>T" "r.(?)" "p.(Phe928=)" "" "0000340823" "00024069" "10" "582" "0" "582" "0" "c.582T>C" "r.(?)" "p.(Ile194=)" "" "0000341592" "00024069" "10" "2274" "0" "2274" "0" "c.2274G>A" "r.(?)" "p.(Ala758=)" "" "0000341635" "00024069" "10" "2785" "0" "2785" "0" "c.2785G>A" "r.(?)" "p.(Ala929Thr)" "" "0000343287" "00024069" "10" "2051" "0" "2051" "0" "c.2051G>A" "r.(?)" "p.(Arg684Gln)" "" "0000343580" "00024069" "10" "371" "0" "371" "0" "c.371A>G" "r.(?)" "p.(Asn124Ser)" "" "0000344177" "00024069" "10" "1992" "0" "1992" "0" "c.1992T>C" "r.(?)" "p.(Asp664=)" "" "0000344182" "00024069" "10" "2112" "0" "2112" "0" "c.2112C>T" "r.(?)" "p.(Asp704=)" "" "0000344486" "00024069" "10" "3056" "0" "3056" "0" "c.3056A>G" "r.(?)" "p.(Gln1019Arg)" "" "0000344492" "00024069" "10" "3126" "0" "3126" "0" "c.3126A>C" "r.(?)" "p.(Gln1042His)" "" "0000344667" "00024069" "50" "62" "0" "62" "0" "c.62A>T" "r.(?)" "p.(Gln21Leu)" "" "0000348075" "00024069" "50" "1675" "0" "1675" "0" "c.1675T>A" "r.(?)" "p.(Phe559Ile)" "" "0000348110" "00024069" "50" "2939" "0" "2939" "0" "c.2939C>T" "r.(?)" "p.(Pro980Leu)" "" "0000348124" "00024069" "10" "3101" "0" "3101" "0" "c.3101C>A" "r.(?)" "p.(Pro1034His)" "" "0000350689" "00024069" "50" "2707" "0" "2707" "0" "c.2707G>A" "r.(?)" "p.(Val903Met)" "" "0000570298" "00024069" "10" "-376" "0" "-376" "0" "c.-376G>C" "r.(?)" "p.(=)" "" "0000570299" "00024069" "10" "-93" "0" "-93" "0" "c.-93C>T" "r.(?)" "p.(=)" "" "0000570300" "00024069" "30" "372" "0" "372" "0" "c.372C>T" "r.(?)" "p.(Asn124=)" "" "0000570301" "00024069" "50" "396" "-10" "396" "-10" "c.396-10C>T" "r.(=)" "p.(=)" "" "0000570302" "00024069" "10" "958" "18" "958" "18" "c.958+18C>T" "r.(=)" "p.(=)" "" "0000570303" "00024069" "30" "959" "0" "959" "0" "c.959T>C" "r.(?)" "p.(Met320Thr)" "" "0000570304" "00024069" "30" "1189" "0" "1189" "0" "c.1189C>G" "r.(?)" "p.(Gln397Glu)" "" "0000570305" "00024069" "30" "1348" "6" "1348" "6" "c.1348+6G>A" "r.(=)" "p.(=)" "" "0000570306" "00024069" "30" "1437" "0" "1437" "0" "c.1437C>T" "r.(?)" "p.(Ser479=)" "" "0000570307" "00024069" "30" "1443" "0" "1443" "0" "c.1443G>A" "r.(?)" "p.(Thr481=)" "" "0000570308" "00024069" "10" "1482" "-6" "1482" "-6" "c.1482-6G>A" "r.(=)" "p.(=)" "" "0000570309" "00024069" "30" "1605" "0" "1605" "0" "c.1605G>A" "r.(?)" "p.(Glu535=)" "" "0000570310" "00024069" "30" "1605" "0" "1605" "0" "c.1605G>A" "r.(?)" "p.(Glu535=)" "" "0000570311" "00024069" "30" "1713" "0" "1713" "0" "c.1713G>A" "r.(?)" "p.(Glu571=)" "" "0000570312" "00024069" "10" "1727" "0" "1727" "0" "c.1727G>A" "r.(?)" "p.(Arg576His)" "" "0000570313" "00024069" "30" "1761" "0" "1761" "0" "c.1761G>A" "r.(?)" "p.(Pro587=)" "" "0000570314" "00024069" "10" "1800" "14" "1800" "14" "c.1800+14C>T" "r.(=)" "p.(=)" "" "0000570315" "00024069" "30" "1833" "0" "1833" "0" "c.1833C>T" "r.(?)" "p.(Ala611=)" "" "0000570316" "00024069" "10" "1992" "0" "1992" "0" "c.1992T>C" "r.(?)" "p.(Asp664=)" "" "0000570317" "00024069" "30" "2026" "-20" "2026" "-20" "c.2026-20C>T" "r.(=)" "p.(=)" "" "0000570318" "00024069" "10" "2051" "0" "2051" "0" "c.2051G>A" "r.(?)" "p.(Arg684Gln)" "" "0000570319" "00024069" "30" "2145" "0" "2145" "0" "c.2145C>T" "r.(?)" "p.(Phe715=)" "" "0000570320" "00024069" "50" "2186" "0" "2186" "0" "c.2186G>A" "r.(?)" "p.(Arg729His)" "" "0000570321" "00024069" "30" "2191" "0" "2191" "0" "c.2191C>T" "r.(?)" "p.(His731Tyr)" "" "0000570322" "00024069" "90" "2260" "0" "2260" "0" "c.2260C>T" "r.(?)" "p.(Arg754Ter)" "" "0000570323" "00024069" "10" "2274" "0" "2274" "0" "c.2274G>A" "r.(?)" "p.(Ala758=)" "" "0000570324" "00024069" "30" "2280" "0" "2280" "0" "c.2280C>G" "r.(?)" "p.(Ala760=)" "" "0000570325" "00024069" "30" "2284" "0" "2284" "0" "c.2284C>T" "r.(?)" "p.(Arg762Trp)" "" "0000570326" "00024069" "50" "2413" "5" "2413" "5" "c.2413+5G>A" "r.spl?" "p.?" "" "0000570327" "00024069" "30" "2414" "-6" "2414" "-6" "c.2414-6C>T" "r.(=)" "p.(=)" "" "0000570328" "00024069" "30" "2444" "0" "2444" "0" "c.2444G>T" "r.(?)" "p.(Ser815Ile)" "" "0000570329" "00024069" "10" "2544" "0" "2544" "0" "c.2544T>C" "r.(?)" "p.(Pro848=)" "" "0000570330" "00024069" "30" "2546" "0" "2546" "0" "c.2546G>A" "r.(?)" "p.(Gly849Asp)" "" "0000570331" "00024069" "90" "2572" "0" "2572" "0" "c.2572dup" "r.(?)" "p.(Thr858AsnfsTer7)" "" "0000570332" "00024069" "30" "2624" "0" "2624" "0" "c.2624G>A" "r.(?)" "p.(Arg875Lys)" "" "0000570333" "00024069" "30" "2652" "13" "2652" "18" "c.2652+13_2652+18del" "r.(=)" "p.(=)" "" "0000570334" "00024069" "30" "2653" "-18" "2653" "-18" "c.2653-18C>T" "r.(=)" "p.(=)" "" "0000570335" "00024069" "30" "2678" "0" "2678" "0" "c.2678C>T" "r.(?)" "p.(Thr893Met)" "" "0000570336" "00024069" "10" "2785" "0" "2785" "0" "c.2785G>A" "r.(?)" "p.(Ala929Thr)" "" "0000570338" "00024069" "30" "2808" "0" "2808" "0" "c.2808C>T" "r.(?)" "p.(Gly936=)" "" "0000570339" "00024069" "30" "2817" "0" "2817" "0" "c.2817T>C" "r.(?)" "p.(Phe939=)" "" "0000570340" "00024069" "90" "2869" "0" "2869" "0" "c.2869C>T" "r.(?)" "p.(Arg957Trp)" "" "0000570341" "00024069" "30" "2904" "0" "2904" "0" "c.2904T>C" "r.(?)" "p.(Cys968=)" "" "0000570342" "00024069" "30" "2930" "0" "2930" "0" "c.2930G>C" "r.(?)" "p.(Gly977Ala)" "" "0000570344" "00024069" "90" "2956" "0" "2956" "0" "c.2956C>T" "r.(?)" "p.(Arg986Ter)" "" "0000570345" "00024069" "50" "2957" "0" "2957" "0" "c.2957G>A" "r.(?)" "p.(Arg986Gln)" "" "0000570346" "00024069" "30" "2965" "0" "2965" "0" "c.2965C>T" "r.(?)" "p.(Arg989Trp)" "" "0000570347" "00024069" "30" "2975" "0" "2975" "0" "c.2975C>T" "r.(?)" "p.(Pro992Leu)" "" "0000570348" "00024069" "90" "2992" "1" "2992" "1" "c.2992+1G>C" "r.spl?" "p.?" "" "0000570349" "00024069" "30" "3049" "0" "3049" "0" "c.3049G>A" "r.(?)" "p.(Asp1017Asn)" "" "0000570350" "00024069" "10" "3101" "0" "3101" "0" "c.3101C>A" "r.(?)" "p.(Pro1034His)" "" "0000570351" "00024069" "30" "3109" "7" "3109" "7" "c.3109+7G>A" "r.(=)" "p.(=)" "" "0000570352" "00024069" "10" "3126" "0" "3126" "0" "c.3126A>C" "r.(?)" "p.(Gln1042His)" "" "0000570353" "00024069" "10" "3126" "0" "3126" "0" "c.3126A>C" "r.(?)" "p.(Gln1042His)" "" "0000570354" "00024069" "30" "3213" "0" "3213" "0" "c.3213G>A" "r.(?)" "p.(Leu1071=)" "" "0000570355" "00024069" "50" "3320" "0" "3320" "0" "c.3320C>T" "r.(?)" "p.(Pro1107Leu)" "" "0000570356" "00024069" "10" "3412" "0" "3412" "0" "c.3412C>A" "r.(?)" "p.(Arg1138=)" "" "0000570357" "00024069" "30" "3552" "0" "3552" "0" "c.3552C>T" "r.(?)" "p.(Phe1184=)" "" "0000570358" "00024069" "30" "3652" "20" "3652" "20" "c.3652+20C>G" "r.(=)" "p.(=)" "" "0000570359" "00024069" "30" "3652" "77" "3652" "77" "c.3652+77G>A" "r.(=)" "p.(=)" "" "0000570360" "00024069" "90" "3652" "139" "3652" "139" "c.3652+139G>A" "r.(=)" "p.(=)" "" "0000570361" "00024069" "30" "3653" "-120" "3653" "-120" "c.3653-120C>T" "r.(=)" "p.(=)" "" "0000570362" "00024069" "30" "3653" "-5" "3653" "-5" "c.3653-5C>G" "r.spl?" "p.?" "" "0000570363" "00024069" "10" "4104" "0" "4104" "0" "c.*444G>A" "r.(=)" "p.(=)" "" "0000570364" "00024069" "30" "6307" "0" "6307" "0" "c.*2647C>T" "r.(=)" "p.(=)" "" "0000618294" "00024069" "50" "287" "0" "289" "0" "c.287_289dup" "r.(?)" "p.(Ala96dup)" "" "0000618295" "00024069" "30" "293" "0" "293" "0" "c.293A>C" "r.(?)" "p.(Asp98Ala)" "" "0000618296" "00024069" "30" "489" "0" "489" "0" "c.489C>T" "r.(?)" "p.(Cys163=)" "" "0000618297" "00024069" "50" "527" "0" "527" "0" "c.527A>G" "r.(?)" "p.(Asn176Ser)" "" "0000618298" "00024069" "30" "959" "0" "959" "0" "c.959T>C" "r.(?)" "p.(Met320Thr)" "" "0000618299" "00024069" "30" "1179" "0" "1179" "0" "c.1179G>A" "r.(?)" "p.(Ala393=)" "" "0000618300" "00024069" "30" "1584" "0" "1584" "0" "c.1584G>A" "r.(?)" "p.(Ala528=)" "" "0000618301" "00024069" "30" "2508" "0" "2508" "0" "c.2508C>T" "r.(?)" "p.(Ala836=)" "" "0000618302" "00024069" "10" "2785" "0" "2785" "0" "c.2785G>A" "r.(?)" "p.(Ala929Thr)" "" "0000624189" "00024069" "30" "183" "0" "183" "0" "c.183A>T" "r.(?)" "p.(Glu61Asp)" "" "0000624190" "00024069" "50" "1073" "0" "1073" "0" "c.1073C>T" "r.(?)" "p.(Thr358Met)" "" "0000624191" "00024069" "30" "1104" "0" "1104" "0" "c.1104G>A" "r.(?)" "p.(Ser368=)" "" "0000650823" "00024069" "10" "936" "0" "936" "0" "c.936G>A" "r.(=)" "p.(=)" "" "0000650825" "00024069" "90" "2920" "0" "2920" "0" "c.2920C>T" "r.(?)" "p.(Arg974*)" "" "0000650826" "00024069" "10" "3101" "0" "3101" "0" "c.3101C>A" "r.(?)" "p.(Pro1034His)" "" "0000650827" "00024069" "70" "3652" "139" "3652" "139" "c.3652+139G>A" "r.(=)" "p.(=)" "" "0000658799" "00024069" "30" "549" "0" "549" "0" "c.549G>A" "r.(?)" "p.(Leu183=)" "" "0000658800" "00024069" "30" "860" "0" "860" "0" "c.860C>T" "r.(?)" "p.(Thr287Ile)" "" "0000658802" "00024069" "50" "959" "0" "959" "0" "c.959T>C" "r.(?)" "p.(Met320Thr)" "" "0000658803" "00024069" "50" "1955" "0" "1955" "0" "c.1955T>C" "r.(?)" "p.(Met652Thr)" "" "0000658804" "00024069" "30" "2706" "0" "2706" "0" "c.2706C>T" "r.(?)" "p.(Ala902=)" "" "0000658805" "00024069" "90" "2956" "0" "2956" "0" "c.2956C>T" "r.(?)" "p.(Arg986Ter)" "" "0000658806" "00024069" "50" "2993" "-4" "2993" "-4" "c.2993-4T>G" "r.spl?" "p.?" "" "0000658807" "00024069" "30" "3706" "0" "3706" "0" "c.*46G>A" "r.(=)" "p.(=)" "" "0000669685" "00024069" "10" "978" "0" "978" "0" "c.978G>A" "r.(=)" "p.(=)" "" "0000681688" "00024069" "30" "411" "0" "411" "0" "c.411G>T" "r.(?)" "p.(Val137=)" "" "0000681689" "00024069" "50" "2866" "0" "2866" "0" "c.2866G>C" "r.(?)" "p.(Val956Leu)" "" "0000681690" "00024069" "30" "2975" "0" "2975" "0" "c.2975C>T" "r.(?)" "p.(Pro992Leu)" "" "0000681691" "00024069" "30" "2993" "-8" "2993" "-6" "c.2993-8_2993-6del" "r.(=)" "p.(=)" "" "0000681692" "00024069" "30" "3109" "18" "3109" "18" "c.3109+18C>T" "r.(=)" "p.(=)" "" "0000693023" "00024069" "30" "3022" "0" "3022" "0" "c.3022G>A" "r.(?)" "p.(Val1008Met)" "" "0000727847" "00024069" "30" "301" "7" "301" "7" "c.301+7C>T" "r.(=)" "p.(=)" "" "0000727848" "00024069" "30" "959" "-10" "959" "-10" "c.959-10C>T" "r.(=)" "p.(=)" "" "0000727849" "00024069" "10" "1260" "0" "1260" "0" "c.1260C>T" "r.(?)" "p.(Ser420=)" "" "0000727850" "00024069" "30" "1348" "6" "1348" "6" "c.1348+6G>A" "r.(=)" "p.(=)" "" "0000727851" "00024069" "30" "1482" "-7" "1482" "-7" "c.1482-7C>T" "r.(=)" "p.(=)" "" "0000727852" "00024069" "30" "1548" "0" "1548" "0" "c.1548C>T" "r.(?)" "p.(Val516=)" "" "0000727853" "00024069" "30" "1582" "0" "1582" "0" "c.1582G>A" "r.(?)" "p.(Ala528Thr)" "" "0000727854" "00024069" "90" "2045" "0" "2045" "0" "c.2045G>A" "r.(?)" "p.(Trp682*)" "" "0000727855" "00024069" "30" "2999" "0" "2999" "0" "c.2999C>T" "r.(?)" "p.(Thr1000Met)" "" "0000727856" "00024069" "10" "3412" "0" "3412" "0" "c.3412C>A" "r.(?)" "p.(Arg1138=)" "" "0000809343" "00024069" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Thr10Ile)" "" "0000809344" "00024069" "50" "904" "0" "904" "0" "c.904G>T" "r.(?)" "p.(Asp302Tyr)" "" "0000809345" "00024069" "50" "1474" "0" "1474" "0" "c.1474A>T" "r.(?)" "p.(Met492Leu)" "" "0000809346" "00024069" "50" "2870" "0" "2870" "0" "c.2870G>A" "r.(?)" "p.(Arg957Gln)" "" "0000809347" "00024069" "30" "3129" "0" "3129" "0" "c.3129A>G" "r.(?)" "p.(Pro1043=)" "" "0000809348" "00024069" "30" "3221" "0" "3221" "0" "c.3221C>T" "r.(?)" "p.(Ala1074Val)" "" "0000809349" "00024069" "50" "3380" "0" "3380" "0" "c.3380G>A" "r.(?)" "p.(Arg1127His)" "" "0000809350" "00024069" "30" "3523" "0" "3523" "0" "c.3523G>A" "r.(?)" "p.(Gly1175Arg)" "" "0000855937" "00024069" "30" "905" "0" "905" "0" "c.905A>G" "r.(?)" "p.(Asp302Gly)" "" "0000855938" "00024069" "30" "1349" "-14" "1349" "-14" "c.1349-14C>T" "r.(=)" "p.(=)" "" "0000855939" "00024069" "30" "1349" "-13" "1349" "-13" "c.1349-13C>T" "r.(=)" "p.(=)" "" "0000855940" "00024069" "30" "3003" "0" "3003" "0" "c.3003G>A" "r.(?)" "p.(Ala1001=)" "" "0000855941" "00024069" "30" "3203" "0" "3203" "0" "c.3203G>A" "r.(?)" "p.(Arg1068His)" "" "0000866585" "00024069" "50" "538" "3" "538" "3" "c.538+3A>G" "r.spl?" "p.?" "" "0000866586" "00024069" "30" "615" "-4" "615" "-4" "c.615-4C>T" "r.spl?" "p.?" "" "0000866587" "00024069" "10" "786" "0" "786" "0" "c.786G>A" "r.(?)" "p.(Ser262=)" "" "0000866588" "00024069" "10" "879" "0" "879" "0" "c.879T>C" "r.(?)" "p.(Gly293=)" "" "0000866589" "00024069" "10" "978" "0" "978" "0" "c.978G>A" "r.(?)" "p.(Glu326=)" "" "0000866590" "00024069" "10" "978" "0" "978" "0" "c.978G>A" "r.(?)" "p.(Glu326=)" "" "0000866591" "00024069" "10" "1761" "0" "1761" "0" "c.1761G>A" "r.(?)" "p.(Pro587=)" "" "0000866592" "00024069" "50" "2707" "0" "2707" "0" "c.2707G>A" "r.(?)" "p.(Val903Met)" "" "0000866593" "00024069" "30" "3423" "0" "3423" "0" "c.3423G>A" "r.(?)" "p.(Pro1141=)" "" "0000895429" "00024069" "30" "372" "0" "372" "0" "c.372C>T" "r.(?)" "p.(Asn124=)" "" "0000895430" "00024069" "30" "1192" "-13" "1192" "-13" "c.1192-13C>T" "r.(=)" "p.(=)" "" "0000895431" "00024069" "10" "1192" "-9" "1192" "-9" "c.1192-9del" "r.(=)" "p.(=)" "" "0000895432" "00024069" "30" "1581" "0" "1581" "0" "c.1581C>T" "r.(?)" "p.(Ser527=)" "" "0000895433" "00024069" "30" "1863" "0" "1863" "0" "c.1863G>A" "r.(?)" "p.(Ala621=)" "" "0000895434" "00024069" "50" "2716" "0" "2716" "0" "c.2716G>A" "r.(?)" "p.(Glu906Lys)" "" "0000895435" "00024069" "30" "2818" "0" "2818" "0" "c.2818G>A" "r.(?)" "p.(Ala940Thr)" "" "0000895436" "00024069" "30" "2898" "0" "2898" "0" "c.2898G>C" "r.(?)" "p.(Glu966Asp)" "" "0000895437" "00024069" "30" "2915" "0" "2915" "0" "c.2915C>T" "r.(?)" "p.(Thr972Ile)" "" "0000895438" "00024069" "50" "2935" "0" "2935" "0" "c.2935C>T" "r.(?)" "p.(Arg979Trp)" "" "0000895439" "00024069" "30" "2992" "8" "2992" "8" "c.2992+8G>C" "r.(=)" "p.(=)" "" "0000915431" "00024069" "30" "959" "-10" "959" "-10" "c.959-10C>T" "r.(=)" "p.(=)" "" "0000915432" "00024069" "30" "1189" "0" "1189" "0" "c.1189C>G" "r.(?)" "p.(Gln397Glu)" "" "0000915433" "00024069" "50" "2612" "0" "2612" "0" "c.2612C>T" "r.(?)" "p.(Pro871Leu)" "" "0000915434" "00024069" "30" "3653" "-5" "3653" "-5" "c.3653-5C>G" "r.spl?" "p.?" "" "0000920311" "00024069" "50" "2083" "0" "2083" "0" "c.2083A>T" "r.(?)" "p.(Ile695Phe)" "24" "0000920359" "00024069" "90" "190" "0" "190" "0" "c.190C>T" "r.(?)" "p.(Arg64Ter)" "3" "0000920363" "00024069" "50" "2545" "0" "2545" "0" "c.2545G>A" "r.(?)" "p.(Gly849Ser)" "27" "0000927048" "00024069" "30" "395" "12" "395" "12" "c.395+12G>A" "r.(=)" "p.(=)" "" "0000927049" "00024069" "30" "1038" "-15" "1038" "-15" "c.1038-15T>C" "r.(=)" "p.(=)" "" "0000927050" "00024069" "30" "1482" "-13" "1482" "-13" "c.1482-13T>C" "r.(=)" "p.(=)" "" "0000927051" "00024069" "10" "1727" "0" "1727" "0" "c.1727G>A" "r.(?)" "p.(Arg576His)" "" "0000927052" "00024069" "30" "1879" "-16" "1879" "-16" "c.1879-16C>G" "r.(=)" "p.(=)" "" "0000927053" "00024069" "30" "2661" "0" "2661" "0" "c.2661C>T" "r.(?)" "p.(Pro887=)" "" "0000927054" "00024069" "30" "2787" "0" "2787" "0" "c.2787C>T" "r.(?)" "p.(Ala929=)" "" "0000927055" "00024069" "30" "2805" "0" "2805" "0" "c.2805C>T" "r.(?)" "p.(Leu935=)" "" "0000927056" "00024069" "30" "3129" "0" "3129" "0" "c.3129A>C" "r.(?)" "p.(Pro1043=)" "" "0000931206" "00024069" "30" "245" "0" "245" "0" "c.245C>T" "r.(?)" "p.(Pro82Leu)" "" "0000931207" "00024069" "30" "959" "0" "959" "0" "c.959T>C" "r.(?)" "p.(Met320Thr)" "" "0000931208" "00024069" "50" "1262" "0" "1262" "0" "c.1262A>G" "r.(?)" "p.(Tyr421Cys)" "" "0000951486" "00024069" "50" "2612" "0" "2612" "0" "c.2612C>T" "r.(?)" "p.(Pro871Leu)" "" "0000951487" "00024069" "30" "2652" "4" "2652" "4" "c.2652+4C>T" "r.spl?" "p.?" "" "0000951488" "00024069" "90" "2869" "0" "2869" "0" "c.2869C>T" "r.(?)" "p.(Arg957Trp)" "" "0000970244" "00024069" "50" "522" "0" "522" "0" "c.522C>A" "r.(?)" "p.(Phe174Leu)" "" "0000970247" "00024069" "30" "1833" "0" "1833" "0" "c.1833C>T" "r.(?)" "p.(Ala611=)" "" "0000983922" "00024069" "50" "334" "0" "334" "0" "c.334G>A" "r.(?)" "p.(Ala112Thr)" "" "0000983923" "00024069" "50" "600" "0" "600" "0" "c.600C>A" "r.(?)" "p.(Ser200Arg)" "" "0000983924" "00024069" "50" "802" "0" "802" "0" "c.802A>G" "r.(?)" "p.(Thr268Ala)" "" "0000983925" "00024069" "50" "1870" "0" "1870" "0" "c.1870C>T" "r.(?)" "p.(Arg624Trp)" "" "0000983926" "00024069" "50" "2652" "4" "2652" "4" "c.2652+4C>T" "r.spl?" "p.?" "" "0000983927" "00024069" "50" "3029" "0" "3029" "0" "c.3029C>T" "r.(?)" "p.(Thr1010Met)" "" "0000983928" "00024069" "30" "3056" "0" "3056" "0" "c.3056A>G" "r.(?)" "p.(Gln1019Arg)" "" "0000983929" "00024069" "30" "3222" "0" "3222" "0" "c.3222G>A" "r.(?)" "p.(=)" "" "0000983930" "00024069" "50" "3277" "0" "3277" "0" "c.3277G>A" "r.(?)" "p.(Asp1093Asn)" "" "0001005576" "00024069" "50" "190" "0" "190" "0" "c.190C>T" "r.(?)" "p.(Arg64*)" "" "0001005577" "00024069" "30" "540" "0" "540" "0" "c.540A>T" "r.(?)" "p.(Glu180Asp)" "" "0001005578" "00024069" "30" "542" "0" "542" "0" "c.542A>G" "r.(?)" "p.(Lys181Arg)" "" "0001005579" "00024069" "30" "919" "5" "919" "5" "c.919+5G>A" "r.spl?" "p.?" "" "0001005580" "00024069" "30" "947" "0" "947" "0" "c.947C>T" "r.(?)" "p.(Ala316Val)" "" "0001005581" "00024069" "30" "1405" "0" "1405" "0" "c.1405C>T" "r.(?)" "p.(Arg469Cys)" "" "0001005582" "00024069" "50" "1747" "0" "1747" "0" "c.1747G>C" "r.(?)" "p.(Glu583Gln)" "" "0001005583" "00024069" "30" "1802" "0" "1802" "0" "c.1802C>G" "r.(?)" "p.(Thr601Ser)" "" "0001005584" "00024069" "50" "1952" "0" "1952" "0" "c.1952G>T" "r.(?)" "p.(Arg651Leu)" "" "0001005585" "00024069" "30" "2146" "0" "2146" "0" "c.2146G>T" "r.(?)" "p.(Ala716Ser)" "" "0001005586" "00024069" "50" "2612" "0" "2612" "0" "c.2612C>T" "r.(?)" "p.(Pro871Leu)" "" "0001005587" "00024069" "50" "2707" "0" "2707" "0" "c.2707G>A" "r.(?)" "p.(Val903Met)" "" "0001005588" "00024069" "50" "2866" "0" "2866" "0" "c.2866G>C" "r.(?)" "p.(Val956Leu)" "" "0001005589" "00024069" "50" "2935" "0" "2935" "0" "c.2935C>T" "r.(?)" "p.(Arg979Trp)" "" "0001005590" "00024069" "30" "2941" "0" "2941" "0" "c.2941G>A" "r.(?)" "p.(Glu981Lys)" "" "0001005591" "00024069" "50" "3074" "0" "3074" "0" "c.3074G>T" "r.(?)" "p.(Gly1025Val)" "" "0001005592" "00024069" "30" "3202" "0" "3202" "0" "c.3202C>T" "r.(?)" "p.(Arg1068Cys)" "" "0001005593" "00024069" "30" "3278" "0" "3278" "0" "c.3278A>G" "r.(?)" "p.(Asp1093Gly)" "" "0001005594" "00024069" "50" "3409" "0" "3409" "0" "c.3409G>A" "r.(?)" "p.(Gly1137Ser)" "" "0001005595" "00024069" "30" "3423" "0" "3423" "0" "c.3423G>A" "r.(?)" "p.(Pro1141=)" "" "0001005596" "00024069" "30" "3547" "0" "3547" "0" "c.3547T>A" "r.(?)" "p.(Ser1183Thr)" "" "0001005597" "00024069" "30" "3652" "34" "3652" "34" "c.3652+34A>G" "r.(=)" "p.(=)" "" "0001005598" "00024069" "30" "3652" "41" "3652" "41" "c.3652+41G>A" "r.(=)" "p.(=)" "" "0001015880" "00024069" "90" "2956" "0" "2956" "0" "c.2956C>T" "r.(?)" "p.(Arg986Ter)" "" "0001027338" "00024069" "50" "518" "0" "518" "0" "c.518A>G" "r.(?)" "p.(His173Arg)" "" "0001043522" "00024069" "50" "600" "0" "600" "0" "c.600C>A" "r.(?)" "p.(Ser200Arg)" "" "0001043523" "00024069" "10" "1017" "0" "1017" "0" "c.1017C>T" "r.(?)" "p.(Ser339=)" "" "0001043524" "00024069" "50" "2600" "0" "2600" "0" "c.2600C>T" "r.(?)" "p.(Pro867Leu)" "" "0001043525" "00024069" "30" "2775" "0" "2775" "0" "c.2775C>T" "r.(?)" "p.(Ser925=)" "" "0001043526" "00024069" "10" "2823" "0" "2823" "0" "c.2823G>C" "r.(?)" "p.(Glu941Asp)" "" "0001043527" "00024069" "30" "2992" "396" "2992" "396" "c.2992+396C>G" "r.(=)" "p.(=)" "" "0001043528" "00024069" "70" "3652" "78" "3652" "78" "c.3652+78T>C" "r.(=)" "p.(=)" "" "0001043529" "00024069" "50" "3652" "131" "3652" "131" "c.3652+131C>G" "r.(=)" "p.(=)" "" "0001056979" "00024069" "50" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70Cys)" "" "0001056980" "00024069" "50" "350" "0" "350" "0" "c.350C>T" "r.(?)" "p.(Ser117Leu)" "" "0001056981" "00024069" "50" "2473" "0" "2473" "0" "c.2473G>A" "r.(?)" "p.(Val825Ile)" "" "0001056982" "00024069" "50" "3320" "0" "3320" "0" "c.3320C>T" "r.(?)" "p.(Pro1107Leu)" "" "0001067380" "00024069" "50" "554" "0" "554" "0" "c.554A>G" "r.(?)" "p.(Gln185Arg)" "" "0001067381" "00024069" "70" "1266" "3" "1266" "80" "c.1266+3_1266+80del" "r.spl?" "p.?" "" "0001067382" "00024069" "30" "1481" "6" "1481" "6" "c.1481+6G>A" "r.(=)" "p.(=)" "" "0001067383" "00024069" "50" "1747" "0" "1747" "0" "c.1747G>C" "r.(?)" "p.(Glu583Gln)" "" "0001067384" "00024069" "30" "2678" "0" "2678" "0" "c.2678C>T" "r.(?)" "p.(Thr893Met)" "" "0001067385" "00024069" "50" "2862" "0" "2862" "0" "c.2862G>C" "r.(?)" "p.(Gln954His)" "" "0001067386" "00024069" "90" "2956" "0" "2956" "0" "c.2956C>T" "r.(?)" "p.(Arg986Ter)" "" "0001067387" "00024069" "30" "2992" "443" "2992" "443" "c.2992+443A>T" "r.(=)" "p.(=)" "" "0001067388" "00024069" "50" "3286" "0" "3286" "0" "c.3286C>G" "r.(?)" "p.(Leu1096Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000294134" "0000650823" "0000294136" "0000650825" "0000294137" "0000650826" "0000294138" "0000650827" "0000305997" "0000669685" "0000434558" "0000920311" "0000434558" "0000920359" "0000434564" "0000920363"