### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TXNRD2) # 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}}" "TXNRD2" "thioredoxin reductase 2" "22" "q11.21" "unknown" "LRG_417" "UD_132119076372" "" "https://www.LOVD.nl/TXNRD2" "" "1" "18155" "10587" "606448" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-11-26 14:58:36" "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}}" "00022186" "TXNRD2" "thioredoxin reductase 2" "001" "NM_006440.3" "" "NP_006431.2" "" "" "" "-33" "1931" "1575" "19929359" "19863040" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43" "06542" "GCCD5" "?Glucocorticoid deficiency 5" "AR" "617825" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TXNRD2" "06542" ## 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}}" "00050212" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00050438" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected father/child" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050514" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050542" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050613" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00301734" "" "" "" "1" "" "00006" "{PMID:Maddirevula 2019:30237576}" "" "M" "" "Saudi Arabia" "" "0" "" "" "" "17-3959" "00320299" "" "" "" "1" "" "00006" "{PMID:Isbister 2020:32931854}" "" "" "" "Australia" "" "0" "" "" "" "BPP1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00050212" "00198" "00050438" "00198" "00050514" "00198" "00050542" "00198" "00050613" "00198" "00301734" "00198" "00320299" "04172" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04172, 06542 ## Count = 7 "{{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}}" "0000036824" "00198" "00050212" "00006" "Unknown" "" "severe undiagnosed developmental disorders" "" "" "" "" "" "" "" "" "" "" "" "0000037050" "00198" "00050438" "00006" "Unknown" "" "sparse scalp hair, fragile nails, abnormality of limb bone morphology, alopecia of scalp, high palate, global developmental delay, global developmental delay, abnormality of the heart" "" "" "" "" "" "" "" "" "" "" "" "0000037126" "00198" "00050514" "00006" "Isolated (sporadic)" "" "agenesis of corpus callosum, periventricular gray matter heterotopia, seizures, frontal bossing, eczema" "" "" "" "" "" "" "" "" "" "" "" "0000037154" "00198" "00050542" "00006" "Isolated (sporadic)" "" "abnormality of the nervous system, dysphagia, abnormality of the palpebral fissures, inverted nipples, redundant skin, global developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000037225" "00198" "00050613" "00006" "Isolated (sporadic)" "" "specific learning disability, congenital hypothyroidism, abnormality of metabolism/homeostasis, rhabdomyolysis, cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "0000228832" "00198" "00301734" "00006" "Familial, autosomal recessive" "12y" "history of recurrent hypoglycemia, polycythemia. He has history of congenital heart disease (truncus arteriosus, and pulmonary stenosis). Examination revealed dysmorphic facies (hypertelorism, synophrys, bitemporal narrowing, bulbous nose, thick lips, short neck, cleft palate, large omphalocele, and clubbing of fingers). He was also diagnosed with glucocorticoid deficiency." "" "" "" "" "" "" "" "" "" "" "" "0000242327" "04172" "00320299" "00006" "Unknown" "" "survived sudden cardiac arrest" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" ## 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}}" "0000050157" "00050212" "1" "00006" "00006" "2015-09-27 13:26:52" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050383" "00050438" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050459" "00050514" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050487" "00050542" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050558" "00050613" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000302858" "00301734" "1" "00006" "00006" "2020-05-22 17:20:34" "" "" "SEQ-NG" "DNA" "" "WES" "0000321485" "00320299" "1" "00006" "00006" "2020-11-27 09:16:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000050157" "TXNRD2" "0000302858" "TXNRD2" "0000321485" "TXNRD2" ## 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 = 132 "{{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}}" "0000079109" "3" "90" "22" "19865895" "19865895" "subst" "0.000584781" "00006" "TXNRD2_000001" "g.19865895A>C" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "association variant/phenotype uncertain" "Germline" "" "" "0" "" "" "g.19878372A>C" "" "pathogenic" "" "0000079363" "0" "90" "22" "18889039" "21464119" "del" "0" "00006" "ARVCF_000002" "g.18889039_21464119del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000079439" "0" "90" "22" "18839287" "21830562" "dup" "0" "00006" "ARVCF_000005" "g.18839287_21830562dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "increased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000079467" "0" "90" "22" "19023163" "21464119" "del" "0" "00006" "ARVCF_000004" "g.19023163_21464119del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000079538" "0" "90" "22" "18893563" "21464119" "del" "0" "00006" "ARVCF_000003" "g.18893563_21464119del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000248793" "0" "10" "22" "19868218" "19868218" "subst" "0.69145" "02325" "TXNRD2_000011" "g.19868218A>G" "" "" "" "TXNRD2(NM_006440.5):c.1109T>C (p.I370T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19880695A>G" "" "benign" "" "0000249487" "0" "30" "22" "19868153" "19868153" "subst" "0.000476194" "02325" "TXNRD2_000036" "g.19868153A>G" "" "" "" "TXNRD2(NM_006440.3):c.1174T>C (p.Y392H), TXNRD2(NM_006440.5):c.1174T>C (p.Y392H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19880630A>G" "" "likely benign" "" "0000249583" "0" "30" "22" "19865724" "19865724" "subst" "0" "02325" "TXNRD2_000006" "g.19865724A>G" "" "" "" "TXNRD2(NM_006440.5):c.1348-14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19878201A>G" "" "likely benign" "" "0000249584" "0" "30" "22" "19870839" "19870839" "subst" "2.44133E-5" "02325" "TXNRD2_000014" "g.19870839A>G" "" "" "" "TXNRD2(NM_006440.5):c.1086+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19883316A>G" "" "likely benign" "" "0000249585" "0" "30" "22" "19905759" "19905759" "subst" "0.00117425" "02325" "TXNRD2_000035" "g.19905759A>C" "" "" "" "TXNRD2(NM_006440.5):c.375-19T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19918236A>C" "" "likely benign" "" "0000249826" "0" "50" "22" "19906384" "19906384" "subst" "2.07829E-5" "02325" "TXNRD2_000041" "g.19906384A>G" "" "" "" "TXNRD2(NM_006440.5):c.373T>C (p.W125R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19918861A>G" "" "VUS" "" "0000249834" "0" "50" "22" "19865895" "19865895" "subst" "0.000584781" "02325" "TXNRD2_000001" "g.19865895A>C" "" "" "" "TXNRD2(NM_006440.5):c.1341T>G (p.Y447*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19878372A>C" "" "VUS" "" "0000251990" "0" "30" "22" "19929250" "19929250" "subst" "1.11089E-5" "02326" "TXNRD2_000047" "g.19929250A>C" "" "" "" "TXNRD2(NM_001282512.3):c.77T>G (p.V26G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19941727A>C" "" "likely benign" "" "0000252326" "0" "30" "22" "19898985" "19898985" "subst" "0" "02326" "TXNRD2_000027" "g.19898985A>T" "" "" "" "TXNRD2(NM_001282512.3):c.592-15T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19911462A>T" "" "likely benign" "" "0000256141" "0" "50" "22" "19951742" "19951742" "subst" "1.62425E-5" "01943" "COMT_000002" "g.19951742A>T" "" "" "" "COMT(NM_000754.3):c.535A>T (p.K179*), COMT(NM_001362828.2):c.535A>T (p.K179*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19964219A>T" "" "VUS" "" "0000259148" "0" "10" "22" "19959473" "19959473" "subst" "0.74743" "02325" "ARVCF_000008" "g.19959473C>T" "" "" "" "ARVCF(NM_001670.3):c.2717G>A (p.R906Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19971950C>T" "" "benign" "" "0000267076" "0" "10" "22" "19956269" "19956269" "dup" "0" "02325" "ARVCF_000007" "g.19956269dup" "" "" "" "COMT(NM_000754.3):c.*10dupC, COMT(NM_000754.4):c.*10dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19968746dup" "" "benign" "" "0000267077" "0" "10" "22" "19950235" "19950235" "subst" "0.464833" "02325" "COMT_000006" "g.19950235C>T" "" "" "" "COMT(NM_000754.3):c.186C>T (p.H62=), COMT(NM_000754.4):c.186C>T (p.H62=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19962712C>T" "" "benign" "" "0000267078" "0" "10" "22" "19951207" "19951207" "subst" "0.337397" "02325" "COMT_000007" "g.19951207C>G" "" "" "" "COMT(NM_000754.3):c.408C>G (p.L136=), COMT(NM_000754.4):c.408C>G (p.L136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19963684C>G" "" "benign" "" "0000267079" "0" "10" "22" "19951271" "19951271" "subst" "0.462525" "02325" "COMT_000001" "g.19951271G>A" "" "" "" "COMT(NM_000754.3):c.472G>A (p.V158M), COMT(NM_000754.4):c.472G>A (p.V158M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19963748G>A" "" "benign" "" "0000268539" "0" "10" "22" "19950235" "19950235" "subst" "0.464833" "02329" "COMT_000006" "g.19950235C>T" "" "" "" "COMT(NM_000754.3):c.186C>T (p.H62=), COMT(NM_000754.4):c.186C>T (p.H62=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19962712C>T" "" "benign" "" "0000268540" "0" "10" "22" "19951207" "19951207" "subst" "0.337397" "02329" "COMT_000007" "g.19951207C>G" "" "" "" "COMT(NM_000754.3):c.408C>G (p.L136=), COMT(NM_000754.4):c.408C>G (p.L136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19963684C>G" "" "benign" "" "0000268541" "0" "10" "22" "19951271" "19951271" "subst" "0.462525" "02329" "COMT_000001" "g.19951271G>A" "" "" "" "COMT(NM_000754.3):c.472G>A (p.V158M), COMT(NM_000754.4):c.472G>A (p.V158M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19963748G>A" "" "benign" "" "0000274316" "0" "10" "22" "19956269" "19956269" "dup" "0" "01943" "ARVCF_000007" "g.19956269dup" "" "" "" "COMT(NM_000754.3):c.*10dupC, COMT(NM_000754.4):c.*10dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19968746dup" "" "benign" "" "0000274317" "0" "30" "22" "19950040" "19950040" "subst" "6.95826E-5" "01943" "COMT_000005" "g.19950040C>T" "" "" "" "COMT(NM_000754.3):c.1-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19962517C>T" "" "likely benign" "" "0000274318" "0" "10" "22" "19950235" "19950235" "subst" "0.464833" "01943" "COMT_000006" "g.19950235C>T" "" "" "" "COMT(NM_000754.3):c.186C>T (p.H62=), COMT(NM_000754.4):c.186C>T (p.H62=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19962712C>T" "" "benign" "" "0000274319" "0" "10" "22" "19951207" "19951207" "subst" "0.337397" "01943" "COMT_000007" "g.19951207C>G" "" "" "" "COMT(NM_000754.3):c.408C>G (p.L136=), COMT(NM_000754.4):c.408C>G (p.L136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19963684C>G" "" "benign" "" "0000274320" "0" "10" "22" "19951271" "19951271" "subst" "0.462525" "01943" "COMT_000001" "g.19951271G>A" "" "" "" "COMT(NM_000754.3):c.472G>A (p.V158M), COMT(NM_000754.4):c.472G>A (p.V158M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19963748G>A" "" "benign" "" "0000274321" "0" "10" "22" "19951804" "19951804" "subst" "0.0297322" "01943" "COMT_000003" "g.19951804G>A" "" "" "" "COMT(NM_000754.3):c.597G>A (p.P199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19964281G>A" "" "benign" "" "0000274322" "0" "50" "22" "19956072" "19956072" "subst" "2.0356E-5" "01943" "ARVCF_000006" "g.19956072T>C" "" "" "" "COMT(NM_000754.3):c.629T>C (p.L210P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19968549T>C" "" "VUS" "" "0000312885" "0" "50" "22" "19882661" "19882661" "subst" "0" "02325" "TXNRD2_000017" "g.19882661C>A" "" "" "" "TXNRD2(NM_001282512.3):c.1012G>T (p.D338Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19895138C>A" "" "VUS" "" "0000312886" "0" "50" "22" "19882660" "19882660" "subst" "0" "02325" "TXNRD2_000016" "g.19882660T>G" "" "" "" "TXNRD2(NM_001282512.3):c.1013A>C (p.D338A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19895137T>G" "" "VUS" "" "0000312887" "0" "30" "22" "19929210" "19929210" "dup" "0" "02325" "TXNRD2_000046" "g.19929210dup" "" "" "" "TXNRD2(NM_006440.5):c.103+17dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19941687dup" "" "likely benign" "" "0000312888" "0" "30" "22" "19870857" "19870857" "subst" "0.000670503" "02325" "TXNRD2_000015" "g.19870857G>A" "" "" "" "TXNRD2(NM_006440.3):c.1077C>T (p.D359=), TXNRD2(NM_006440.5):c.1077C>T (p.D359=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19883334G>A" "" "likely benign" "" "0000312889" "0" "10" "22" "19868261" "19868261" "del" "0" "02325" "TXNRD2_000013" "g.19868261del" "" "" "" "TXNRD2(NM_006440.5):c.1087-16delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19880738del" "" "benign" "" "0000312890" "0" "30" "22" "19868228" "19868228" "subst" "0.00656693" "02325" "TXNRD2_000012" "g.19868228G>A" "" "" "" "TXNRD2(NM_006440.5):c.1099C>T (p.L367=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19880705G>A" "" "likely benign" "" "0000312891" "0" "30" "22" "19868190" "19868190" "subst" "0.000423187" "02325" "TXNRD2_000038" "g.19868190C>G" "" "" "" "TXNRD2(NM_006440.3):c.1137G>C (p.V379=), TXNRD2(NM_006440.5):c.1137G>C (p.V379=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19880667C>G" "" "likely benign" "" "0000312892" "0" "30" "22" "19868177" "19868177" "subst" "0.00770783" "02325" "TXNRD2_000037" "g.19868177C>T" "" "" "" "TXNRD2(NM_006440.3):c.1150G>A (p.G384S), TXNRD2(NM_006440.5):c.1150G>A (p.G384S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19880654C>T" "" "likely benign" "" "0000312893" "0" "10" "22" "19867771" "19867771" "subst" "0.175062" "02325" "TXNRD2_000010" "g.19867771C>T" "" "" "" "TXNRD2(NM_006440.5):c.1206G>A (p.P402=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19880248C>T" "" "benign" "" "0000312894" "0" "30" "22" "19867753" "19867753" "subst" "2.44202E-5" "02325" "TXNRD2_000009" "g.19867753C>G" "" "" "" "TXNRD2(NM_006440.3):c.1224G>C (p.V408=), TXNRD2(NM_006440.5):c.1224G>C (p.V408=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19880230C>G" "" "likely benign" "" "0000312895" "0" "30" "22" "19865952" "19865952" "subst" "4.06138E-6" "02325" "TXNRD2_000008" "g.19865952G>A" "" "" "" "TXNRD2(NM_006440.5):c.1284C>T (p.H428=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19878429G>A" "" "likely benign" "" "0000312896" "0" "30" "22" "19865928" "19865928" "subst" "0.000365488" "02325" "TXNRD2_000007" "g.19865928G>A" "" "" "" "TXNRD2(NM_006440.3):c.1308C>T (p.F436=), TXNRD2(NM_006440.5):c.1308C>T (p.F436=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19878405G>A" "" "likely benign" "" "0000312897" "0" "30" "22" "19865708" "19865708" "subst" "1.22095E-5" "02325" "TXNRD2_000005" "g.19865708C>A" "" "" "" "TXNRD2(NM_006440.5):c.1350G>T (p.M450I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19878185C>A" "" "likely benign" "" "0000312898" "0" "30" "22" "19865595" "19865595" "subst" "0.00261838" "02325" "TXNRD2_000003" "g.19865595G>A" "" "" "" "TXNRD2(NM_006440.5):c.1445+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19878072G>A" "" "likely benign" "" "0000312899" "0" "50" "22" "19864628" "19864628" "subst" "4.11997E-6" "02325" "TXNRD2_000002" "g.19864628T>G" "" "" "" "TXNRD2(NM_006440.5):c.1575A>C (p.*525Yext*?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19877105T>G" "" "VUS" "" "0000312900" "0" "30" "22" "19907141" "19907141" "del" "0.000212257" "02325" "TXNRD2_000045" "g.19907141del" "" "" "" "TXNRD2(NM_006440.5):c.173-19delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19919618del" "" "likely benign" "" "0000312901" "0" "50" "22" "19906498" "19906498" "subst" "0" "02325" "TXNRD2_000044" "g.19906498C>G" "" "" "" "TXNRD2(NM_001282512.3):c.259G>C (p.V87L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19918975C>G" "" "VUS" "" "0000312902" "0" "30" "22" "19906454" "19906454" "subst" "0.000533853" "02325" "TXNRD2_000043" "g.19906454T>C" "" "" "" "TXNRD2(NM_006440.3):c.303A>G (p.A101=), TXNRD2(NM_006440.5):c.303A>G (p.A101=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19918931T>C" "" "likely benign" "" "0000312903" "0" "30" "22" "19906391" "19906391" "subst" "0" "02325" "TXNRD2_000042" "g.19906391C>A" "" "" "" "TXNRD2(NM_006440.5):c.366G>T (p.P122=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19918868C>A" "" "likely benign" "" "0000312904" "0" "30" "22" "19906370" "19906370" "subst" "0.0318504" "02325" "TXNRD2_000040" "g.19906370G>A" "" "" "" "TXNRD2(NM_006440.3):c.374+13C>T, TXNRD2(NM_006440.5):c.374+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19918847G>A" "" "likely benign" "" "0000312905" "0" "30" "22" "19906367" "19906367" "subst" "0.00131912" "02325" "TXNRD2_000039" "g.19906367G>T" "" "" "" "TXNRD2(NM_006440.5):c.374+16C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19918844G>T" "" "likely benign" "" "0000312906" "0" "30" "22" "19902804" "19902804" "subst" "2.04989E-5" "02325" "TXNRD2_000033" "g.19902804G>A" "" "" "" "TXNRD2(NM_006440.5):c.529-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19915281G>A" "" "likely benign" "" "0000312907" "0" "30" "22" "19902805" "19902805" "subst" "0.00116922" "02325" "TXNRD2_000034" "g.19902805G>A" "" "" "" "TXNRD2(NM_006440.5):c.529-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19915282G>A" "" "likely benign" "" "0000312908" "0" "30" "22" "19902785" "19902785" "subst" "2.03963E-5" "02325" "TXNRD2_000032" "g.19902785G>A" "" "" "" "TXNRD2(NM_006440.3):c.543C>T (p.A181=), TXNRD2(NM_006440.5):c.543C>T (p.A181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19915262G>A" "" "likely benign" "" "0000312909" "0" "30" "22" "19902743" "19902743" "subst" "9.79776E-5" "02325" "TXNRD2_000031" "g.19902743G>C" "" "" "" "TXNRD2(NM_006440.5):c.585C>G (p.P195=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19915220G>C" "" "likely benign" "" "0000312910" "0" "30" "22" "19902719" "19902719" "del" "0.00195511" "02325" "TXNRD2_000028" "g.19902719del" "" "" "" "TXNRD2(NM_006440.5):c.591+18delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19915196del" "" "likely benign" "" "0000312911" "0" "50" "22" "19902736" "19902736" "subst" "0.000114515" "02325" "TXNRD2_000030" "g.19902736C>G" "" "" "" "TXNRD2(NM_001282512.3):c.591+1G>C, TXNRD2(NM_006440.3):c.591+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19915213C>G" "" "VUS" "" "0000312913" "0" "30" "22" "19929263" "19929263" "subst" "0.000732332" "02325" "COMT_000004" "g.19929263C>T" "" "" "" "TXNRD2(NM_001282512.3):c.64G>A (p.V22M), TXNRD2(NM_006440.3):c.64G>A (p.V22M), TXNRD2(NM_006440.5):c.64G>A (p.V22M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19941740C>T" "" "likely benign" "" "0000312914" "0" "30" "22" "19885622" "19885622" "subst" "0" "02325" "TXNRD2_000025" "g.19885622G>A" "" "" "" "TXNRD2(NM_006440.5):c.714C>T (p.T238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19898099G>A" "" "likely benign" "" "0000312915" "0" "50" "22" "19885591" "19885591" "subst" "0" "02325" "TXNRD2_000024" "g.19885591G>A" "" "" "" "TXNRD2(NM_001282512.3):c.745C>T (p.R249C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19898068G>A" "" "VUS" "" "0000312916" "0" "30" "22" "19885574" "19885574" "subst" "0.0010175" "02325" "TXNRD2_000023" "g.19885574G>A" "" "" "" "TXNRD2(NM_006440.3):c.762C>T (p.R254=), TXNRD2(NM_006440.5):c.762C>T (p.R254=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19898051G>A" "" "likely benign" "" "0000312917" "0" "30" "22" "19885573" "19885573" "subst" "0.000800595" "02325" "TXNRD2_000022" "g.19885573C>G" "" "" "" "TXNRD2(NM_006440.5):c.763G>C (p.G255R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19898050C>G" "" "likely benign" "" "0000312918" "0" "30" "22" "19883123" "19883123" "subst" "0.000608374" "02325" "TXNRD2_000021" "g.19883123C>T" "" "" "" "TXNRD2(NM_006440.5):c.775-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19895600C>T" "" "likely benign" "" "0000312919" "0" "30" "22" "19883063" "19883063" "subst" "0.00224768" "02325" "TXNRD2_000020" "g.19883063G>A" "" "" "" "TXNRD2(NM_006440.3):c.816C>T (p.G272=), TXNRD2(NM_006440.5):c.816C>T (p.G272=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19895540G>A" "" "likely benign" "" "0000312920" "0" "30" "22" "19882976" "19882976" "subst" "0.00290906" "02325" "TXNRD2_000019" "g.19882976G>T" "" "" "" "TXNRD2(NM_006440.5):c.903C>A (p.T301=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19895453G>T" "" "likely benign" "" "0000312921" "0" "30" "22" "19882946" "19882946" "subst" "0.000842868" "02325" "TXNRD2_000018" "g.19882946G>A" "" "" "" "TXNRD2(NM_001282512.3):c.933C>T (p.T311=), TXNRD2(NM_006440.3):c.933C>T (p.T311=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19895423G>A" "" "likely benign" "" "0000315160" "0" "30" "22" "19868177" "19868177" "subst" "0.00770783" "02326" "TXNRD2_000037" "g.19868177C>T" "" "" "" "TXNRD2(NM_006440.3):c.1150G>A (p.G384S), TXNRD2(NM_006440.5):c.1150G>A (p.G384S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19880654C>T" "" "likely benign" "" "0000315161" "0" "30" "22" "19865651" "19865651" "subst" "0.000276456" "02326" "TXNRD2_000004" "g.19865651G>T" "" "" "" "TXNRD2(NM_006440.3):c.1407C>A (p.N469K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19878128G>T" "" "likely benign" "" "0000315162" "0" "10" "22" "19906370" "19906370" "subst" "0.0318504" "02326" "TXNRD2_000040" "g.19906370G>A" "" "" "" "TXNRD2(NM_006440.3):c.374+13C>T, TXNRD2(NM_006440.5):c.374+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19918847G>A" "" "benign" "" "0000315163" "0" "30" "22" "19929263" "19929263" "subst" "0.000732332" "02326" "COMT_000004" "g.19929263C>T" "" "" "" "TXNRD2(NM_001282512.3):c.64G>A (p.V22M), TXNRD2(NM_006440.3):c.64G>A (p.V22M), TXNRD2(NM_006440.5):c.64G>A (p.V22M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19941740C>T" "" "likely benign" "" "0000315164" "0" "10" "22" "19898887" "19898887" "subst" "0.0349283" "02326" "TXNRD2_000026" "g.19898887G>A" "" "" "" "TXNRD2(NM_006440.3):c.662+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19911364G>A" "" "benign" "" "0000328885" "0" "50" "22" "19960805" "19960805" "subst" "0" "01804" "ARVCF_000009" "g.19960805G>A" "" "" "" "ARVCF(NM_001670.2):c.2275C>T (p.(Arg759Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19973282G>A" "" "VUS" "" "0000571344" "0" "50" "22" "19865644" "19865644" "subst" "2.43998E-5" "02325" "COMT_000008" "g.19865644C>T" "" "" "" "TXNRD2(NM_001352300.2):c.1411G>A (p.E471K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19878121C>T" "" "VUS" "" "0000571345" "0" "30" "22" "19868153" "19868153" "subst" "0.000476194" "01943" "TXNRD2_000036" "g.19868153A>G" "" "" "" "TXNRD2(NM_006440.3):c.1174T>C (p.Y392H), TXNRD2(NM_006440.5):c.1174T>C (p.Y392H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19880630A>G" "" "likely benign" "" "0000571346" "0" "30" "22" "19868172" "19868172" "subst" "2.03479E-5" "01943" "COMT_000009" "g.19868172C>G" "" "" "" "TXNRD2(NM_006440.3):c.1155G>C (p.G385=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19880649C>G" "" "likely benign" "" "0000571347" "0" "30" "22" "19882946" "19882946" "subst" "0.000842868" "01943" "TXNRD2_000018" "g.19882946G>A" "" "" "" "TXNRD2(NM_001282512.3):c.933C>T (p.T311=), TXNRD2(NM_006440.3):c.933C>T (p.T311=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19895423G>A" "" "likely benign" "" "0000571348" "0" "30" "22" "19883021" "19883021" "subst" "0.000638762" "01943" "COMT_000010" "g.19883021C>G" "" "" "" "TXNRD2(NM_006440.3):c.858G>C (p.R286S), TXNRD2(NM_006440.5):c.858G>C (p.R286S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19895498C>G" "" "likely benign" "" "0000571349" "0" "30" "22" "19883021" "19883021" "subst" "0.000638762" "02325" "COMT_000010" "g.19883021C>G" "" "" "" "TXNRD2(NM_006440.3):c.858G>C (p.R286S), TXNRD2(NM_006440.5):c.858G>C (p.R286S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19895498C>G" "" "likely benign" "" "0000571350" "0" "30" "22" "19883024" "19883024" "subst" "0" "01943" "COMT_000011" "g.19883024C>T" "" "" "" "TXNRD2(NM_001282512.2):c.855G>A (p.R285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19895501C>T" "" "likely benign" "" "0000571351" "0" "30" "22" "19883063" "19883063" "subst" "0.00224768" "01943" "TXNRD2_000020" "g.19883063G>A" "" "" "" "TXNRD2(NM_006440.3):c.816C>T (p.G272=), TXNRD2(NM_006440.5):c.816C>T (p.G272=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19895540G>A" "" "likely benign" "" "0000571352" "0" "30" "22" "19885574" "19885574" "subst" "0.0010175" "01943" "TXNRD2_000023" "g.19885574G>A" "" "" "" "TXNRD2(NM_006440.3):c.762C>T (p.R254=), TXNRD2(NM_006440.5):c.762C>T (p.R254=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19898051G>A" "" "likely benign" "" "0000571353" "0" "30" "22" "19886566" "19886566" "subst" "0" "01943" "COMT_000012" "g.19886566G>T" "" "" "" "TXNRD2(NM_001282512.2):c.682+6C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19899043G>T" "" "likely benign" "" "0000571354" "0" "50" "22" "19898906" "19898906" "subst" "0.000308639" "01943" "COMT_000013" "g.19898906C>G" "" "" "" "TXNRD2(NM_001282512.2):c.656G>C (p.G219A), TXNRD2(NM_001282512.3):c.656G>C (p.G219A), TXNRD2(NM_006440.3):c.656G>C (p.G219A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19911383C>G" "" "VUS" "" "0000571355" "0" "50" "22" "19898906" "19898906" "subst" "0.000308639" "02325" "COMT_000013" "g.19898906C>G" "" "" "" "TXNRD2(NM_001282512.2):c.656G>C (p.G219A), TXNRD2(NM_001282512.3):c.656G>C (p.G219A), TXNRD2(NM_006440.3):c.656G>C (p.G219A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19911383C>G" "" "VUS" "" "0000571356" "0" "50" "22" "19898935" "19898935" "subst" "8.12209E-6" "01943" "COMT_000014" "g.19898935A>C" "" "" "" "TXNRD2(NM_006440.3):c.627T>G (p.D209E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19911412A>C" "" "VUS" "" "0000571357" "0" "30" "22" "19902731" "19902731" "dup" "0" "02325" "COMT_000015" "g.19902731dup" "" "" "" "TXNRD2(NM_001282512.3):c.591+6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19915208dup" "" "likely benign" "" "0000571360" "0" "30" "22" "19905748" "19905748" "subst" "0.000483378" "01943" "COMT_000017" "g.19905748G>A" "" "" "" "TXNRD2(NM_006440.3):c.375-8C>T, TXNRD2(NM_006440.5):c.375-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19918225G>A" "" "likely benign" "" "0000571361" "0" "30" "22" "19905748" "19905748" "subst" "0.000483378" "02325" "COMT_000017" "g.19905748G>A" "" "" "" "TXNRD2(NM_006440.3):c.375-8C>T, TXNRD2(NM_006440.5):c.375-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19918225G>A" "" "likely benign" "" "0000571362" "0" "30" "22" "19929268" "19929268" "subst" "0" "01943" "ARVCF_000016" "g.19929268T>C" "" "" "" "TXNRD2(NM_001282512.2):c.59A>G (p.Q20R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19941745T>C" "" "likely benign" "" "0000571363" "0" "10" "22" "19950235" "19950235" "subst" "0.464833" "02327" "COMT_000006" "g.19950235C>T" "" "" "" "COMT(NM_000754.3):c.186C>T (p.H62=), COMT(NM_000754.4):c.186C>T (p.H62=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19962712C>T" "" "benign" "" "0000571364" "0" "30" "22" "19951069" "19951069" "subst" "0" "02327" "ARVCF_000017" "g.19951069C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19963546C>G" "" "likely benign" "" "0000571365" "0" "10" "22" "19951207" "19951207" "subst" "0.337397" "02327" "COMT_000007" "g.19951207C>G" "" "" "" "COMT(NM_000754.3):c.408C>G (p.L136=), COMT(NM_000754.4):c.408C>G (p.L136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19963684C>G" "" "benign" "" "0000571366" "0" "10" "22" "19951271" "19951271" "subst" "0.462525" "02327" "COMT_000001" "g.19951271G>A" "" "" "" "COMT(NM_000754.3):c.472G>A (p.V158M), COMT(NM_000754.4):c.472G>A (p.V158M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19963748G>A" "" "benign" "" "0000618467" "0" "50" "22" "19898967" "19898967" "subst" "3.65551E-5" "02325" "COMT_000019" "g.19898967C>T" "" "" "" "TXNRD2(NM_001352300.2):c.592G>A (p.E198K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19911444C>T" "" "VUS" "" "0000624257" "0" "50" "22" "19886594" "19886594" "subst" "4.16095E-6" "02325" "COMT_000018" "g.19886594G>C" "" "" "" "TXNRD2(NM_001352300.2):c.660-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19899071G>C" "" "VUS" "" "0000624258" "0" "30" "22" "19929263" "19929263" "subst" "0.000732332" "01943" "COMT_000004" "g.19929263C>T" "" "" "" "TXNRD2(NM_001282512.3):c.64G>A (p.V22M), TXNRD2(NM_006440.3):c.64G>A (p.V22M), TXNRD2(NM_006440.5):c.64G>A (p.V22M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19941740C>T" "" "likely benign" "" "0000624259" "0" "50" "22" "19959919" "19959919" "subst" "2.0334E-5" "02325" "ARVCF_000025" "g.19959919C>A" "" "" "" "ARVCF(NM_001670.3):c.2657G>T (p.G886V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19972396C>A" "" "VUS" "" "0000658879" "0" "50" "22" "19864650" "19864650" "subst" "0.000118814" "02325" "COMT_000021" "g.19864650G>A" "" "" "" "TXNRD2(NM_001352300.2):c.1550C>T (p.T517M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19877127G>A" "" "VUS" "" "0000658880" "0" "30" "22" "19868190" "19868190" "subst" "0.000423187" "01943" "TXNRD2_000038" "g.19868190C>G" "" "" "" "TXNRD2(NM_006440.3):c.1137G>C (p.V379=), TXNRD2(NM_006440.5):c.1137G>C (p.V379=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19880667C>G" "" "likely benign" "" "0000658881" "0" "30" "22" "19906454" "19906454" "subst" "0.000533853" "01943" "TXNRD2_000043" "g.19906454T>C" "" "" "" "TXNRD2(NM_006440.3):c.303A>G (p.A101=), TXNRD2(NM_006440.5):c.303A>G (p.A101=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19918931T>C" "" "likely benign" "" "0000658882" "0" "50" "22" "19951742" "19951742" "subst" "1.62425E-5" "02329" "COMT_000002" "g.19951742A>T" "" "" "" "COMT(NM_000754.3):c.535A>T (p.K179*), COMT(NM_001362828.2):c.535A>T (p.K179*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19964219A>T" "" "VUS" "" "0000666215" "3" "70" "22" "19865915" "19865915" "subst" "1.62447E-5" "00006" "TXNRD2_000048" "g.19865915G>A" "" "{PMID:Maddirevula 2019:30237576}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.19878392G>A" "" "likely pathogenic (recessive)" "ACMG" "0000681783" "0" "50" "22" "19864689" "19864689" "subst" "4.89404E-5" "01943" "COMT_000022" "g.19864689A>T" "" "" "" "TXNRD2(NM_006440.3):c.1514T>A (p.V505D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681784" "0" "50" "22" "19950045" "19950045" "subst" "0" "02325" "ARVCF_000026" "g.19950045T>A" "" "" "" "COMT(NM_001362828.2):c.-5T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693107" "0" "30" "22" "19865651" "19865651" "subst" "0.000276456" "01943" "TXNRD2_000004" "g.19865651G>T" "" "" "" "TXNRD2(NM_006440.3):c.1407C>A (p.N469K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693108" "0" "50" "22" "19906419" "19906419" "subst" "4.08553E-6" "01943" "COMT_000023" "g.19906419T>G" "" "" "" "TXNRD2(NM_006440.3):c.338A>C (p.Y113S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000704343" "0" "50" "22" "19929313" "19929313" "subst" "0" "00006" "TXNRD2_000049" "g.19929313G>A" "" "{PMID:Isbister 2020:32931854}" "" "" "" "Germline" "" "" "0" "" "" "g.19941790G>A" "" "VUS" "ACMG" "0000728037" "0" "50" "22" "19864644" "19864644" "subst" "2.87019E-5" "01943" "COMT_000024" "g.19864644G>C" "" "" "" "TXNRD2(NM_006440.3):c.1559C>G (p.T520R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728038" "0" "30" "22" "19864742" "19864742" "subst" "0.000172055" "01943" "COMT_000025" "g.19864742A>G" "" "" "" "TXNRD2(NM_006440.3):c.1461T>C (p.Y487=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728039" "0" "30" "22" "19867753" "19867753" "subst" "2.44202E-5" "01943" "TXNRD2_000009" "g.19867753C>G" "" "" "" "TXNRD2(NM_006440.3):c.1224G>C (p.V408=), TXNRD2(NM_006440.5):c.1224G>C (p.V408=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728040" "0" "30" "22" "19870857" "19870857" "subst" "0.000670503" "01943" "TXNRD2_000015" "g.19870857G>A" "" "" "" "TXNRD2(NM_006440.3):c.1077C>T (p.D359=), TXNRD2(NM_006440.5):c.1077C>T (p.D359=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728041" "0" "50" "22" "19885588" "19885588" "subst" "0" "02325" "COMT_000026" "g.19885588T>C" "" "" "" "TXNRD2(NM_006440.5):c.748A>G (p.S250G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728042" "0" "30" "22" "19902785" "19902785" "subst" "2.03963E-5" "01943" "TXNRD2_000032" "g.19902785G>A" "" "" "" "TXNRD2(NM_006440.3):c.543C>T (p.A181=), TXNRD2(NM_006440.5):c.543C>T (p.A181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809488" "0" "50" "22" "19868186" "19868186" "subst" "4.06941E-6" "01943" "COMT_000027" "g.19868186G>A" "" "" "" "TXNRD2(NM_006440.3):c.1141C>T (p.R381W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809489" "0" "30" "22" "19882976" "19882976" "subst" "9.76467E-5" "01943" "COMT_000028" "g.19882976G>A" "" "" "" "TXNRD2(NM_006440.3):c.903C>T (p.T301=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809490" "0" "50" "22" "19885600" "19885600" "subst" "0" "02325" "COMT_000029" "g.19885600T>G" "" "" "" "TXNRD2(NM_006440.5):c.736A>C (p.I246L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809491" "0" "50" "22" "19929252" "19929258" "dup" "0" "02325" "ARVCF_000028" "g.19929252_19929258dup" "" "" "" "TXNRD2(NM_006440.5):c.70_76dupGGCGGGG (p.V26Gfs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856057" "0" "30" "22" "19864680" "19864680" "subst" "0.000236758" "01943" "COMT_000030" "g.19864680C>T" "" "" "" "TXNRD2(NM_006440.3):c.1523G>A (p.R508H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856058" "0" "30" "22" "19865928" "19865928" "subst" "0.000365488" "01943" "TXNRD2_000007" "g.19865928G>A" "" "" "" "TXNRD2(NM_006440.3):c.1308C>T (p.F436=), TXNRD2(NM_006440.5):c.1308C>T (p.F436=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856059" "0" "50" "22" "19902736" "19902736" "subst" "0.000114515" "01943" "TXNRD2_000030" "g.19902736C>G" "" "" "" "TXNRD2(NM_001282512.3):c.591+1G>C, TXNRD2(NM_006440.3):c.591+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856060" "0" "50" "22" "19907074" "19907074" "subst" "0.000144886" "02325" "COMT_000033" "g.19907074G>C" "" "" "" "TXNRD2(NM_006440.5):c.221C>G (p.S74C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866725" "0" "50" "22" "19885585" "19885585" "subst" "0" "02325" "COMT_000031" "g.19885585T>A" "" "" "" "TXNRD2(NM_006440.5):c.751A>T (p.I251F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866726" "0" "50" "22" "19885599" "19885599" "subst" "0" "02325" "COMT_000032" "g.19885599A>G" "" "" "" "TXNRD2(NM_006440.5):c.737T>C (p.I246T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866727" "0" "30" "22" "19929263" "19929263" "subst" "1.01713E-5" "01943" "ARVCF_000029" "g.19929263C>A" "" "" "" "TXNRD2(NM_006440.3):c.64G>T (p.V22L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866728" "0" "30" "22" "19951103" "19951103" "subst" "0.000696213" "01943" "ARVCF_000030" "g.19951103G>A" "" "" "" "COMT(NM_000754.3):c.304G>A (p.A102T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866729" "0" "50" "22" "19960542" "19960542" "subst" "1.22076E-5" "01943" "ARVCF_000031" "g.19960542G>C" "" "" "" "ARVCF(NM_001670.2):c.2456C>G (p.A819G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984109" "0" "50" "22" "19867758" "19867758" "subst" "0" "01804" "COMT_000034" "g.19867758A>G" "" "" "" "TXNRD2(NM_006440.5):c.1219T>C (p.(Cys407Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015908" "0" "50" "22" "19956075" "19956075" "subst" "8.14087E-6" "02325" "ARVCF_000032" "g.19956075G>A" "" "" "" "COMT(NM_000754.4):c.632G>A (p.R211Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043719" "0" "50" "22" "19867772" "19867772" "subst" "1.22215E-5" "01804" "COMT_000035" "g.19867772G>A" "" "" "" "TXNRD2(NM_006440.5):c.1205C>T (p.(Pro402Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043720" "0" "50" "22" "19885568" "19885568" "subst" "0" "02325" "COMT_000036" "g.19885568G>C" "" "" "" "TXNRD2(NM_001282512.3):c.768C>G (p.F256L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043721" "0" "30" "22" "19931939" "19931939" "subst" "0" "01804" "ARVCF_000033" "g.19931939T>C" "" "" "" "COMT(NM_000754.4):c.-92+2519T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001067459" "0" "30" "22" "19950110" "19950110" "subst" "1.06655E-5" "02325" "ARVCF_000034" "g.19950110G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes TXNRD2 ## Count = 132 "{{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}}" "0000079109" "00022186" "00" "1341" "0" "1341" "0" "c.1341T>G" "r.(?)" "p.?" "" "0000079363" "00022186" "00" "-1534793" "0" "975932" "0" "c.-1534793_*974357del" "r.0?" "p.0?" "" "0000079439" "00022186" "00" "-1901236" "0" "1025684" "0" "c.-1901236_*1024109dup" "r.?" "p.?" "" "0000079467" "00022186" "00" "-1534793" "0" "841808" "0" "c.-1534793_*840233del" "r.0?" "p.0?" "" "0000079538" "00022186" "00" "-1534793" "0" "971408" "0" "c.-1534793_*969833del" "r.0?" "p.0?" "" "0000248793" "00022186" "10" "1109" "0" "1109" "0" "c.1109T>C" "r.(?)" "p.?" "" "0000249487" "00022186" "30" "1174" "0" "1174" "0" "c.1174T>C" "r.(?)" "p.?" "" "0000249583" "00022186" "30" "1348" "-14" "1348" "-14" "c.1348-14T>C" "r.(=)" "p.(=)" "" "0000249584" "00022186" "30" "1086" "9" "1086" "9" "c.1086+9T>C" "r.(=)" "p.(=)" "" "0000249585" "00022186" "30" "375" "-19" "375" "-19" "c.375-19T>G" "r.(=)" "p.(=)" "" "0000249826" "00022186" "50" "373" "0" "373" "0" "c.373T>C" "r.(?)" "p.?" "" "0000249834" "00022186" "50" "1341" "0" "1341" "0" "c.1341T>G" "r.(?)" "p.?" "" "0000251990" "00022186" "30" "77" "0" "77" "0" "c.77T>G" "r.(?)" "p.?" "" "0000252326" "00022186" "30" "592" "-15" "592" "-15" "c.592-15T>A" "r.(=)" "p.(=)" "" "0000256141" "00022186" "50" "-22416" "0" "-22416" "0" "c.-22416T>A" "r.(?)" "p.(=)" "" "0000259148" "00022186" "10" "-30147" "0" "-30147" "0" "c.-30147G>A" "r.(?)" "p.(=)" "" "0000267076" "00022186" "10" "-26937" "0" "-26937" "0" "c.-26937dup" "r.(?)" "p.(=)" "" "0000267077" "00022186" "10" "-20909" "0" "-20909" "0" "c.-20909G>A" "r.(?)" "p.(=)" "" "0000267078" "00022186" "10" "-21881" "0" "-21881" "0" "c.-21881G>C" "r.(?)" "p.(=)" "" "0000267079" "00022186" "10" "-21945" "0" "-21945" "0" "c.-21945C>T" "r.(?)" "p.(=)" "" "0000268539" "00022186" "10" "-20909" "0" "-20909" "0" "c.-20909G>A" "r.(?)" "p.(=)" "" "0000268540" "00022186" "10" "-21881" "0" "-21881" "0" "c.-21881G>C" "r.(?)" "p.(=)" "" "0000268541" "00022186" "10" "-21945" "0" "-21945" "0" "c.-21945C>T" "r.(?)" "p.(=)" "" "0000274316" "00022186" "10" "-26937" "0" "-26937" "0" "c.-26937dup" "r.(?)" "p.(=)" "" "0000274317" "00022186" "30" "-20714" "0" "-20714" "0" "c.-20714G>A" "r.(?)" "p.(=)" "" "0000274318" "00022186" "10" "-20909" "0" "-20909" "0" "c.-20909G>A" "r.(?)" "p.(=)" "" "0000274319" "00022186" "10" "-21881" "0" "-21881" "0" "c.-21881G>C" "r.(?)" "p.(=)" "" "0000274320" "00022186" "10" "-21945" "0" "-21945" "0" "c.-21945C>T" "r.(?)" "p.(=)" "" "0000274321" "00022186" "10" "-22478" "0" "-22478" "0" "c.-22478C>T" "r.(?)" "p.(=)" "" "0000274322" "00022186" "50" "-26746" "0" "-26746" "0" "c.-26746A>G" "r.(?)" "p.(=)" "" "0000312885" "00022186" "50" "949" "269" "949" "269" "c.949+269G>T" "r.(=)" "p.(=)" "" "0000312886" "00022186" "50" "949" "270" "949" "270" "c.949+270A>C" "r.(=)" "p.(=)" "" "0000312887" "00022186" "30" "103" "17" "103" "17" "c.103+17dup" "r.(=)" "p.(=)" "" "0000312888" "00022186" "30" "1077" "0" "1077" "0" "c.1077C>T" "r.(?)" "p.?" "" "0000312889" "00022186" "10" "1087" "-16" "1087" "-16" "c.1087-16del" "r.(=)" "p.(=)" "" "0000312890" "00022186" "30" "1099" "0" "1099" "0" "c.1099C>T" "r.(?)" "p.?" "" "0000312891" "00022186" "30" "1137" "0" "1137" "0" "c.1137G>C" "r.(?)" "p.?" "" "0000312892" "00022186" "30" "1150" "0" "1150" "0" "c.1150G>A" "r.(?)" "p.?" "" "0000312893" "00022186" "10" "1206" "0" "1206" "0" "c.1206G>A" "r.(?)" "p.?" "" "0000312894" "00022186" "30" "1224" "0" "1224" "0" "c.1224G>C" "r.(?)" "p.?" "" "0000312895" "00022186" "30" "1284" "0" "1284" "0" "c.1284C>T" "r.(?)" "p.?" "" "0000312896" "00022186" "30" "1308" "0" "1308" "0" "c.1308C>T" "r.(?)" "p.?" "" "0000312897" "00022186" "30" "1350" "0" "1350" "0" "c.1350G>T" "r.(?)" "p.?" "" "0000312898" "00022186" "30" "1445" "18" "1445" "18" "c.1445+18C>T" "r.(=)" "p.(=)" "" "0000312899" "00022186" "50" "1575" "0" "1575" "0" "c.1575A>C" "r.(?)" "p.?" "" "0000312900" "00022186" "30" "173" "-19" "173" "-19" "c.173-19del" "r.(=)" "p.(=)" "" "0000312901" "00022186" "50" "259" "0" "259" "0" "c.259G>C" "r.(?)" "p.?" "" "0000312902" "00022186" "30" "303" "0" "303" "0" "c.303A>G" "r.(?)" "p.?" "" "0000312903" "00022186" "30" "366" "0" "366" "0" "c.366G>T" "r.(?)" "p.?" "" "0000312904" "00022186" "30" "374" "13" "374" "13" "c.374+13C>T" "r.(=)" "p.(=)" "" "0000312905" "00022186" "30" "374" "16" "374" "16" "c.374+16C>A" "r.(=)" "p.(=)" "" "0000312906" "00022186" "30" "529" "-5" "529" "-5" "c.529-5C>T" "r.spl?" "p.?" "" "0000312907" "00022186" "30" "529" "-6" "529" "-6" "c.529-6C>T" "r.(=)" "p.(=)" "" "0000312908" "00022186" "30" "543" "0" "543" "0" "c.543C>T" "r.(?)" "p.?" "" "0000312909" "00022186" "30" "585" "0" "585" "0" "c.585C>G" "r.(?)" "p.?" "" "0000312910" "00022186" "30" "591" "18" "591" "18" "c.591+18del" "r.(=)" "p.(=)" "" "0000312911" "00022186" "50" "591" "1" "591" "1" "c.591+1G>C" "r.spl?" "p.?" "" "0000312913" "00022186" "30" "64" "0" "64" "0" "c.64G>A" "r.(?)" "p.?" "" "0000312914" "00022186" "30" "714" "0" "714" "0" "c.714C>T" "r.(?)" "p.?" "" "0000312915" "00022186" "50" "745" "0" "745" "0" "c.745C>T" "r.(?)" "p.?" "" "0000312916" "00022186" "30" "762" "0" "762" "0" "c.762C>T" "r.(?)" "p.?" "" "0000312917" "00022186" "30" "763" "0" "763" "0" "c.763G>C" "r.(?)" "p.?" "" "0000312918" "00022186" "30" "775" "-19" "775" "-19" "c.775-19G>A" "r.(=)" "p.(=)" "" "0000312919" "00022186" "30" "816" "0" "816" "0" "c.816C>T" "r.(?)" "p.?" "" "0000312920" "00022186" "30" "903" "0" "903" "0" "c.903C>A" "r.(?)" "p.?" "" "0000312921" "00022186" "30" "933" "0" "933" "0" "c.933C>T" "r.(?)" "p.?" "" "0000315160" "00022186" "30" "1150" "0" "1150" "0" "c.1150G>A" "r.(?)" "p.?" "" "0000315161" "00022186" "30" "1407" "0" "1407" "0" "c.1407C>A" "r.(?)" "p.?" "" "0000315162" "00022186" "10" "374" "13" "374" "13" "c.374+13C>T" "r.(=)" "p.(=)" "" "0000315163" "00022186" "30" "64" "0" "64" "0" "c.64G>A" "r.(?)" "p.?" "" "0000315164" "00022186" "10" "662" "13" "662" "13" "c.662+13C>T" "r.(=)" "p.(=)" "" "0000328885" "00022186" "50" "-31479" "0" "-31479" "0" "c.-31479C>T" "r.(?)" "p.(=)" "" "0000571344" "00022186" "50" "1414" "0" "1414" "0" "c.1414G>A" "r.(?)" "p.?" "" "0000571345" "00022186" "30" "1174" "0" "1174" "0" "c.1174T>C" "r.(?)" "p.?" "" "0000571346" "00022186" "30" "1155" "0" "1155" "0" "c.1155G>C" "r.(?)" "p.?" "" "0000571347" "00022186" "30" "933" "0" "933" "0" "c.933C>T" "r.(?)" "p.?" "" "0000571348" "00022186" "30" "858" "0" "858" "0" "c.858G>C" "r.(?)" "p.?" "" "0000571349" "00022186" "30" "858" "0" "858" "0" "c.858G>C" "r.(?)" "p.?" "" "0000571350" "00022186" "30" "855" "0" "855" "0" "c.855G>A" "r.(?)" "p.?" "" "0000571351" "00022186" "30" "816" "0" "816" "0" "c.816C>T" "r.(?)" "p.?" "" "0000571352" "00022186" "30" "762" "0" "762" "0" "c.762C>T" "r.(?)" "p.?" "" "0000571353" "00022186" "30" "682" "6" "682" "6" "c.682+6C>A" "r.(=)" "p.(=)" "" "0000571354" "00022186" "50" "656" "0" "656" "0" "c.656G>C" "r.(?)" "p.?" "" "0000571355" "00022186" "50" "656" "0" "656" "0" "c.656G>C" "r.(?)" "p.?" "" "0000571356" "00022186" "50" "627" "0" "627" "0" "c.627T>G" "r.(?)" "p.?" "" "0000571357" "00022186" "30" "591" "6" "591" "6" "c.591+6dup" "r.(=)" "p.(=)" "" "0000571360" "00022186" "30" "375" "-8" "375" "-8" "c.375-8C>T" "r.(=)" "p.(=)" "" "0000571361" "00022186" "30" "375" "-8" "375" "-8" "c.375-8C>T" "r.(=)" "p.(=)" "" "0000571362" "00022186" "30" "59" "0" "59" "0" "c.59A>G" "r.(?)" "p.?" "" "0000571363" "00022186" "10" "-20909" "0" "-20909" "0" "c.-20909G>A" "r.(?)" "p.(=)" "" "0000571364" "00022186" "30" "-21743" "0" "-21743" "0" "c.-21743G>C" "r.(?)" "p.(=)" "" "0000571365" "00022186" "10" "-21881" "0" "-21881" "0" "c.-21881G>C" "r.(?)" "p.(=)" "" "0000571366" "00022186" "10" "-21945" "0" "-21945" "0" "c.-21945C>T" "r.(?)" "p.(=)" "" "0000618467" "00022186" "50" "595" "0" "595" "0" "c.595G>A" "r.(?)" "p.?" "" "0000624257" "00022186" "50" "663" "-3" "663" "-3" "c.663-3C>G" "r.spl?" "p.?" "" "0000624258" "00022186" "30" "64" "0" "64" "0" "c.64G>A" "r.(?)" "p.?" "" "0000624259" "00022186" "50" "-30593" "0" "-30593" "0" "c.-30593G>T" "r.(?)" "p.(=)" "" "0000658879" "00022186" "50" "1553" "0" "1553" "0" "c.1553C>T" "r.(?)" "p.?" "" "0000658880" "00022186" "30" "1137" "0" "1137" "0" "c.1137G>C" "r.(?)" "p.?" "" "0000658881" "00022186" "30" "303" "0" "303" "0" "c.303A>G" "r.(?)" "p.?" "" "0000658882" "00022186" "50" "-22416" "0" "-22416" "0" "c.-22416T>A" "r.(?)" "p.(=)" "" "0000666215" "00022186" "70" "1321" "0" "1321" "0" "c.1321C>T" "r.(?)" "p.?" "" "0000681783" "00022186" "50" "1514" "0" "1514" "0" "c.1514T>A" "r.(?)" "p.?" "" "0000681784" "00022186" "50" "-20719" "0" "-20719" "0" "c.-20719A>T" "r.(?)" "p.(=)" "" "0000693107" "00022186" "30" "1407" "0" "1407" "0" "c.1407C>A" "r.(?)" "p.?" "" "0000693108" "00022186" "50" "338" "0" "338" "0" "c.338A>C" "r.(?)" "p.?" "" "0000704343" "00022186" "50" "14" "0" "14" "0" "c.14C>T" "r.(?)" "p.(Ala5Val)" "" "0000728037" "00022186" "50" "1559" "0" "1559" "0" "c.1559C>G" "r.(?)" "p.?" "" "0000728038" "00022186" "30" "1461" "0" "1461" "0" "c.1461T>C" "r.(?)" "p.?" "" "0000728039" "00022186" "30" "1224" "0" "1224" "0" "c.1224G>C" "r.(?)" "p.?" "" "0000728040" "00022186" "30" "1077" "0" "1077" "0" "c.1077C>T" "r.(?)" "p.?" "" "0000728041" "00022186" "50" "748" "0" "748" "0" "c.748A>G" "r.(?)" "p.?" "" "0000728042" "00022186" "30" "543" "0" "543" "0" "c.543C>T" "r.(?)" "p.?" "" "0000809488" "00022186" "50" "1141" "0" "1141" "0" "c.1141C>T" "r.(?)" "p.?" "" "0000809489" "00022186" "30" "903" "0" "903" "0" "c.903C>T" "r.(?)" "p.?" "" "0000809490" "00022186" "50" "736" "0" "736" "0" "c.736A>C" "r.(?)" "p.?" "" "0000809491" "00022186" "50" "70" "0" "76" "0" "c.70_76dup" "r.?" "p.?" "" "0000856057" "00022186" "30" "1523" "0" "1523" "0" "c.1523G>A" "r.(?)" "p.?" "" "0000856058" "00022186" "30" "1308" "0" "1308" "0" "c.1308C>T" "r.(?)" "p.?" "" "0000856059" "00022186" "50" "591" "1" "591" "1" "c.591+1G>C" "r.spl?" "p.?" "" "0000856060" "00022186" "50" "221" "0" "221" "0" "c.221C>G" "r.(?)" "p.?" "" "0000866725" "00022186" "50" "751" "0" "751" "0" "c.751A>T" "r.(?)" "p.?" "" "0000866726" "00022186" "50" "737" "0" "737" "0" "c.737T>C" "r.(?)" "p.?" "" "0000866727" "00022186" "30" "64" "0" "64" "0" "c.64G>T" "r.(?)" "p.?" "" "0000866728" "00022186" "30" "-21777" "0" "-21777" "0" "c.-21777C>T" "r.(?)" "p.(=)" "" "0000866729" "00022186" "50" "-31216" "0" "-31216" "0" "c.-31216C>G" "r.(?)" "p.(=)" "" "0000984109" "00022186" "50" "1219" "0" "1219" "0" "c.1219T>C" "r.(?)" "p.?" "" "0001015908" "00022186" "50" "-26749" "0" "-26749" "0" "c.-26749C>T" "r.(?)" "p.(=)" "" "0001043719" "00022186" "50" "1205" "0" "1205" "0" "c.1205C>T" "r.(?)" "p.?" "" "0001043720" "00022186" "50" "768" "0" "768" "0" "c.768C>G" "r.(?)" "p.?" "" "0001043721" "00022186" "30" "-2613" "0" "-2613" "0" "c.-2613A>G" "r.(?)" "p.(=)" "" "0001067459" "00022186" "30" "-20784" "0" "-20784" "0" "c.-20784C>G" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000050157" "0000079109" "0000050383" "0000079363" "0000050459" "0000079439" "0000050487" "0000079467" "0000050558" "0000079538" "0000302858" "0000666215" "0000321485" "0000704343"