### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DUOX2) # 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}}" "DUOX2" "dual oxidase 2" "15" "q15.3-q21" "unknown" "NG_009447.1" "UD_132119061479" "" "https://www.LOVD.nl/DUOX2" "" "1" "13273" "50506" "606759" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/DUOX2_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2018-10-23 19:10:58" "00000" "2025-05-05 21:14:00" ## 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}}" "00000822" "DUOX2" "dual oxidase 2" "001" "NM_014080.4" "" "NP_054799.4" "" "" "" "-203" "6143" "4647" "45384852" "45406359" "00000" "2012-09-13 12:54:29" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02639" "TDH6" "thyroid dyshormonogenesis, type 6 (TDH-6)" "AR" "607200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04147" "MRT" "mental retardation, autosomal recessive (MRT, intellectual disability (IDT))" "" "" "" "autosomal recessive" "" "00006" "2014-10-11 12:21:35" "00006" "2018-12-18 09:25:11" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "DUOX2" "02639" ## Individuals ## Do not remove or alter this header ## ## Count = 16 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00218928" "" "" "" "1" "" "00006" "{PMID:Helbig 2017:28195318}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives" "F;M" "no" "United States" "" "0" "" "" "Jewish-Ashkenazi;Yemen" "28195318-FamPat11/12" "00291225" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291226" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291227" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291228" "" "" "" "0" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291229" "" "" "" "16" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291230" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291231" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304467" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00306200" "" "" "" "1" "" "03695" "" "" "F" "" "China" "" "" "" "" "" "98" "00312528" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00443879" "" "" "" "2" "" "00006" "{PMID:Chatron 2020:32282878}" "3-generation family, 2 affected brothesr, unaffected heterozygous parents/relatives" "M" "yes" "Turkey" "" "0" "" "" "" "FamEPatIII2" "00443880" "" "" "00443879" "1" "" "00006" "{PMID:Chatron 2020:32282878}" "brother" "M" "yes" "Turkey" "9d" "0" "" "" "" "FamEPatIII1" "00453055" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat11" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00218928" "04147" "00291225" "00198" "00291226" "00198" "00291227" "00198" "00291228" "00198" "00291229" "00198" "00291230" "00198" "00291231" "00198" "00304467" "00198" "00306200" "02639" "00312528" "00198" "00443879" "06906" "00443880" "06906" "00453055" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01157, 02639, 04147, 05611, 06906 ## Count = 8 "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000167469" "04147" "00218928" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "NEDIDHA" "" "" "0000232048" "02639" "00306200" "03695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237623" "00198" "00312528" "01807" "Unknown" "" "Hypothyroidism (HP:0000821)" "" "" "" "" "" "" "" "" "" "" "" "0000333156" "06906" "00443879" "00006" "Familial, autosomal recessive" "16m" "see paper; ..., 1m-epileptic spasms; 2m-seizure-free; EEG at onset hypsarrhythmic; axial hypotonia, spasticity; profound intellectual disability; pes equinovarus; no omphalocele; cleft palate; joint contractures; dysmorphic facial features; MRI brain 50d-normal, CT 2m-atlanto-axial anomaly, minimal hydrocephalus" "" "" "" "" "" "" "" "" "DEE89" "West syndrome" "" "0000333157" "06906" "00443880" "00006" "Familial, autosomal recessive" "9d" "see paper; ..., 9d-deceased; 1d-myoclonic seizure; pes equinovarus; no omphalocele; cleft palate; no joint contractures; no dysmorphic facial features; cranial ultrasound germinal matrix haemorrhage" "" "" "" "" "" "" "" "" "DEE89" "" "" "0000341700" "05611" "00453055" "00006" "Isolated (sporadic)" "9y8m" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000220000" "00218928" "1" "00006" "00006" "2019-02-01 10:32:03" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000292393" "00291225" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292394" "00291226" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292395" "00291227" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292396" "00291228" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292397" "00291229" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292398" "00291230" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292399" "00291231" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305596" "00304467" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307334" "00306200" "1" "03695" "03695" "2020-07-11 07:54:46" "" "" "SEQ-NG" "DNA" "" "" "0000313700" "00312528" "1" "01807" "01807" "2020-10-02 13:59:02" "" "" "SEQ" "DNA" "" "" "0000445376" "00443879" "1" "00006" "00006" "2023-12-05 10:17:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445377" "00443880" "1" "00006" "00006" "2023-12-05 10:17:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000454666" "00453055" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000220000" "DOCK3" "0000307334" "DUOX2" ## 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 = 194 "{{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}}" "0000005453" "3" "50" "15" "45391566" "45391566" "subst" "0.998281" "00037" "DUOX2_000001" "g.45391566A>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.45099368A>T" "" "VUS" "" "0000013402" "3" "50" "15" "45391566" "45391566" "subst" "0.998281" "00037" "DUOX2_000001" "g.45391566A>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.45099368A>T" "" "VUS" "" "0000247300" "0" "10" "15" "45391566" "45391566" "subst" "0.998281" "02330" "DUOX2_000001" "g.45391566A>T" "" "" "" "DUOX2(NM_014080.4):c.3515+15T>A, DUOX2(NM_014080.5):c.3515+15T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45099368A>T" "" "benign" "" "0000247320" "0" "10" "15" "45408710" "45408710" "subst" "0.985422" "02330" "DUOXA2_000001" "g.45408710A>G" "" "" "" "DUOXA2(NM_207581.4):c.341-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45116512A>G" "" "benign" "" "0000247339" "0" "10" "15" "45388250" "45388250" "subst" "0.000873629" "02330" "DUOX2_000004" "g.45388250A>G" "" "" "" "DUOX2(NM_014080.5):c.3856T>C (p.Y1286H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45096052A>G" "" "benign" "" "0000247357" "0" "50" "15" "45408027" "45408027" "subst" "8.12255E-6" "02330" "DUOXA2_000009" "g.45408027A>C" "" "" "" "DUOXA2(NM_207581.4):c.178A>C (p.S60R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45115829A>C" "" "VUS" "" "0000247931" "0" "10" "15" "45391566" "45391566" "subst" "0.998281" "02325" "DUOX2_000001" "g.45391566A>T" "" "" "" "DUOX2(NM_014080.4):c.3515+15T>A, DUOX2(NM_014080.5):c.3515+15T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45099368A>T" "" "benign" "" "0000248450" "0" "10" "15" "45408710" "45408710" "subst" "0.985422" "02325" "DUOXA2_000001" "g.45408710A>G" "" "" "" "DUOXA2(NM_207581.4):c.341-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45116512A>G" "" "benign" "" "0000253192" "0" "10" "15" "45391566" "45391566" "subst" "0.998281" "01943" "DUOX2_000001" "g.45391566A>T" "" "" "" "DUOX2(NM_014080.4):c.3515+15T>A, DUOX2(NM_014080.5):c.3515+15T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45099368A>T" "" "benign" "" "0000265719" "0" "10" "15" "45400358" "45400358" "subst" "0.949123" "02330" "DUOX2_000022" "g.45400358C>G" "" "" "" "DUOX2(NM_014080.4):c.1461G>C (p.G487=), DUOX2(NM_014080.5):c.1461G>C (p.G487=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45108160C>G" "" "benign" "" "0000265720" "0" "50" "15" "45400303" "45400303" "subst" "0.000259886" "02330" "DUOX2_000021" "g.45400303C>T" "" "" "" "DUOX2(NM_014080.5):c.1516G>A (p.D506N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45108105C>T" "" "VUS" "" "0000265721" "0" "50" "15" "45398525" "45398525" "subst" "6.52294E-5" "02330" "DUOX2_000020" "g.45398525G>T" "" "" "" "DUOX2(NM_014080.5):c.1946C>A (p.A649E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45106327G>T" "" "VUS" "" "0000265722" "0" "10" "15" "45398509" "45398509" "subst" "0.0135489" "02330" "DUOX2_000019" "g.45398509G>A" "" "" "" "DUOX2(NM_014080.5):c.1962C>T (p.G654=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45106311G>A" "" "benign" "" "0000265723" "0" "30" "15" "45398438" "45398438" "subst" "0.0968821" "02330" "DUOX2_000018" "g.45398438T>C" "" "" "" "DUOX2(NM_014080.5):c.2033A>G (p.H678R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45106240T>C" "" "likely benign" "" "0000265724" "0" "10" "15" "45398313" "45398313" "subst" "0.0017782" "02330" "DUOX2_000016" "g.45398313C>T" "" "" "" "DUOX2(NM_014080.5):c.2148+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45106115C>T" "" "benign" "" "0000265725" "0" "10" "15" "45398314" "45398314" "subst" "0.0673129" "02330" "DUOX2_000017" "g.45398314G>A" "" "" "" "DUOX2(NM_014080.5):c.2148+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45106116G>A" "" "benign" "" "0000265726" "0" "30" "15" "45397993" "45397993" "subst" "0.00818146" "02330" "DUOX2_000015" "g.45397993C>T" "" "" "" "DUOX2(NM_014080.5):c.2182G>A (p.A728T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45105795C>T" "" "likely benign" "" "0000265727" "0" "10" "15" "45397831" "45397831" "subst" "0.0939746" "02330" "DUOX2_000014" "g.45397831G>A" "" "" "" "DUOX2(NM_014080.5):c.2334+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45105633G>A" "" "benign" "" "0000265728" "0" "30" "15" "45394007" "45394007" "subst" "0.00914577" "02330" "DUOX2_000013" "g.45394007T>C" "" "" "" "DUOX2(NM_001363711.2):c.2835A>G (p.G945=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45101809T>C" "" "likely benign" "" "0000265729" "0" "10" "15" "45393014" "45393014" "subst" "0.0500611" "02330" "DUOX2_000012" "g.45393014G>C" "" "" "" "DUOX2(NM_014080.5):c.2944C>G (p.P982A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45100816G>C" "" "benign" "" "0000265730" "0" "10" "15" "45404774" "45404774" "subst" "0.00294997" "02330" "DUOX2_000032" "g.45404774G>T" "" "" "" "DUOX2(NM_014080.4):c.303C>A (p.R101=), DUOX2(NM_014080.5):c.303C>A (p.R101=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45112576G>T" "" "benign" "" "0000265731" "0" "50" "15" "45392391" "45392391" "subst" "0.000236079" "02330" "DUOX2_000011" "g.45392391G>A" "" "" "" "DUOX2(NM_014080.5):c.3041C>T (p.A1014V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45100193G>A" "" "VUS" "" "0000265732" "0" "10" "15" "45392382" "45392382" "subst" "0.00819179" "02330" "DUOX2_000010" "g.45392382T>C" "" "" "" "DUOX2(NM_001363711.1):c.3050A>G (p.E1017G), DUOX2(NM_014080.5):c.3050A>G (p.E1017G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45100184T>C" "" "benign" "" "0000265733" "0" "50" "15" "45404763" "45404763" "subst" "0.000177396" "02330" "DUOX2_000031" "g.45404763C>T" "" "" "" "DUOX2(NM_014080.5):c.314G>A (p.G105E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45112565C>T" "" "VUS" "" "0000265734" "0" "10" "15" "45392099" "45392099" "subst" "0.000476509" "02330" "DUOX2_000008" "g.45392099G>A" "" "" "" "DUOX2(NM_014080.5):c.3185-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45099901G>A" "" "benign" "" "0000265735" "0" "10" "15" "45392075" "45392075" "subst" "0.876791" "02330" "DUOX2_000007" "g.45392075G>A" "" "" "" "DUOX2(NM_014080.4):c.3200C>T (p.S1067L), DUOX2(NM_014080.5):c.3200C>T (p.S1067L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45099877G>A" "" "benign" "" "0000265736" "0" "30" "15" "45389838" "45389838" "subst" "0.000105618" "02330" "DUOX2_000006" "g.45389838G>C" "" "" "" "DUOX2(NM_014080.5):c.3667C>G (p.H1223D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45097640G>C" "" "likely benign" "" "0000265737" "0" "10" "15" "45404098" "45404098" "subst" "0.000672498" "02330" "DUOX2_000029" "g.45404098C>T" "" "" "" "DUOX2(NM_014080.5):c.381G>A (p.E127=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45111900C>T" "" "benign" "" "0000265738" "0" "50" "15" "45389453" "45389453" "subst" "0.00217496" "02330" "DUOX2_000005" "g.45389453G>C" "" "" "" "DUOX2(NM_014080.5):c.3830C>G (p.A1277G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45097255G>C" "" "VUS" "" "0000265739" "0" "10" "15" "45388140" "45388140" "subst" "0.0147201" "02330" "DUOX2_000003" "g.45388140G>A" "" "" "" "DUOX2(NM_014080.5):c.3966C>T (p.S1322=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45095942G>A" "" "benign" "" "0000265740" "0" "10" "15" "45404066" "45404066" "subst" "0.870964" "02330" "DUOX2_000028" "g.45404066G>A" "" "" "" "DUOX2(NM_014080.4):c.413C>T (p.P138L), DUOX2(NM_014080.5):c.413C>T (p.P138L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45111868G>A" "" "benign" "" "0000265741" "0" "10" "15" "45386806" "45386806" "subst" "0.0652431" "02330" "DUOX2_000002" "g.45386806G>C" "" "" "" "DUOX2(NM_014080.5):c.4479C>G (p.P1493=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45094608G>C" "" "benign" "" "0000265742" "0" "10" "15" "45403739" "45403739" "subst" "0.00238186" "02330" "DUOX2_000027" "g.45403739G>A" "" "" "" "DUOX2(NM_014080.5):c.558C>T (p.G186=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45111541G>A" "" "benign" "" "0000265743" "0" "10" "15" "45403730" "45403730" "subst" "0" "02330" "DUOX2_000026" "g.45403730G>A" "" "" "" "DUOX2(NM_014080.4):c.567C>T (p.H189=), DUOX2(NM_014080.5):c.567C>T (p.H189=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45111532G>A" "" "benign" "" "0000265744" "0" "10" "15" "45403700" "45403700" "subst" "0.000912549" "02330" "DUOX2_000025" "g.45403700C>G" "" "" "" "DUOX2(NM_014080.4):c.597G>C (p.S199=), DUOX2(NM_014080.5):c.597G>C (p.S199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45111502C>G" "" "benign" "" "0000265745" "0" "30" "15" "45402883" "45402883" "subst" "0.0108165" "02330" "DUOX2_000024" "g.45402883G>C" "" "" "" "DUOX2(NM_001363711.1):c.908C>G (p.P303R), DUOX2(NM_014080.5):c.908C>G (p.P303R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45110685G>C" "" "likely benign" "" "0000265746" "0" "10" "15" "45402830" "45402830" "subst" "0.00167823" "02330" "DUOX2_000023" "g.45402830C>G" "" "" "" "DUOX2(NM_014080.5):c.943+18G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45110632C>G" "" "benign" "" "0000265748" "0" "50" "15" "45407998" "45407998" "subst" "1.62477E-5" "02330" "DUOXA2_000008" "g.45407998G>A" "" "" "" "DUOXA2(NM_207581.4):c.149G>A (p.R50H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45115800G>A" "" "VUS" "" "0000265749" "0" "10" "15" "45408414" "45408414" "subst" "0.969336" "02330" "DUOXA2_000010" "g.45408414C>G" "" "" "" "DUOXA2(NM_207581.4):c.298C>G (p.R100G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45116216C>G" "" "benign" "" "0000265750" "0" "10" "15" "45408699" "45408699" "subst" "0.85309" "02330" "DUOXA2_000011" "g.45408699C>T" "" "" "" "DUOXA2(NM_207581.4):c.341-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45116501C>T" "" "benign" "" "0000265751" "0" "10" "15" "45408892" "45408892" "subst" "0.00437397" "02330" "DUOXA2_000012" "g.45408892C>T" "" "" "" "DUOXA2(NM_207581.4):c.519C>T (p.Y173=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45116694C>T" "" "benign" "" "0000265752" "0" "10" "15" "45406854" "45406854" "subst" "0.00413512" "02330" "DUOXA2_000007" "g.45406854C>T" "" "" "" "DUOXA2(NM_207581.4):c.51C>T (p.A17=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45114656C>T" "" "benign" "" "0000265753" "0" "10" "15" "45408933" "45408933" "subst" "0.882113" "02330" "DUOXA2_000002" "g.45408933T>C" "" "" "" "DUOXA2(NM_207581.4):c.554+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45116735T>C" "" "benign" "" "0000265754" "0" "50" "15" "45409345" "45409345" "subst" "4.24571E-5" "02330" "DUOXA2_000003" "g.45409345T>C" "" "" "" "DUOXA2(NM_207581.4):c.611T>C (p.L204P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45117147T>C" "" "VUS" "" "0000265755" "0" "10" "15" "45409373" "45409373" "subst" "0.00431584" "02330" "DUOXA2_000004" "g.45409373C>A" "" "" "" "DUOXA2(NM_207581.4):c.639C>A (p.T213=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45117175C>A" "" "benign" "" "0000265756" "0" "10" "15" "45409472" "45409472" "subst" "0.0168053" "02330" "DUOXA2_000005" "g.45409472C>T" "" "" "" "DUOXA2(NM_207581.4):c.738C>T (p.Y246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45117274C>T" "" "benign" "" "0000267716" "0" "10" "15" "45400358" "45400358" "subst" "0.949123" "02325" "DUOX2_000022" "g.45400358C>G" "" "" "" "DUOX2(NM_014080.4):c.1461G>C (p.G487=), DUOX2(NM_014080.5):c.1461G>C (p.G487=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45108160C>G" "" "benign" "" "0000267717" "0" "10" "15" "45392075" "45392075" "subst" "0.876791" "02325" "DUOX2_000007" "g.45392075G>A" "" "" "" "DUOX2(NM_014080.4):c.3200C>T (p.S1067L), DUOX2(NM_014080.5):c.3200C>T (p.S1067L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45099877G>A" "" "benign" "" "0000267718" "0" "10" "15" "45404066" "45404066" "subst" "0.870964" "02325" "DUOX2_000028" "g.45404066G>A" "" "" "" "DUOX2(NM_014080.4):c.413C>T (p.P138L), DUOX2(NM_014080.5):c.413C>T (p.P138L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45111868G>A" "" "benign" "" "0000267719" "0" "10" "15" "45408414" "45408414" "subst" "0.969336" "02325" "DUOXA2_000010" "g.45408414C>G" "" "" "" "DUOXA2(NM_207581.4):c.298C>G (p.R100G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45116216C>G" "" "benign" "" "0000267720" "0" "10" "15" "45408699" "45408699" "subst" "0.85309" "02325" "DUOXA2_000011" "g.45408699C>T" "" "" "" "DUOXA2(NM_207581.4):c.341-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45116501C>T" "" "benign" "" "0000267721" "0" "10" "15" "45408933" "45408933" "subst" "0.882113" "02325" "DUOXA2_000002" "g.45408933T>C" "" "" "" "DUOXA2(NM_207581.4):c.554+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45116735T>C" "" "benign" "" "0000275757" "0" "10" "15" "45400358" "45400358" "subst" "0.949123" "01943" "DUOX2_000022" "g.45400358C>G" "" "" "" "DUOX2(NM_014080.4):c.1461G>C (p.G487=), DUOX2(NM_014080.5):c.1461G>C (p.G487=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45108160C>G" "" "benign" "" "0000275758" "0" "30" "15" "45404876" "45404876" "subst" "2.05821E-5" "01943" "DUOX2_000033" "g.45404876G>A" "" "" "" "DUOX2(NM_014080.4):c.201C>T (p.D67=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45112678G>A" "" "likely benign" "" "0000275759" "0" "30" "15" "45405582" "45405582" "subst" "0" "01943" "DUOX2_000034" "g.45405582T>A" "" "" "" "DUOX2(NM_014080.4):c.28A>T (p.M10L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45113384T>A" "" "likely benign" "" "0000275760" "0" "50" "15" "45392257" "45392257" "subst" "0.000215248" "01943" "DUOX2_000009" "g.45392257G>A" "" "" "" "DUOX2(NM_014080.4):c.3175C>T (p.R1059C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45100059G>A" "" "VUS" "" "0000275761" "0" "10" "15" "45392075" "45392075" "subst" "0.876791" "01943" "DUOX2_000007" "g.45392075G>A" "" "" "" "DUOX2(NM_014080.4):c.3200C>T (p.S1067L), DUOX2(NM_014080.5):c.3200C>T (p.S1067L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45099877G>A" "" "benign" "" "0000275762" "0" "30" "15" "45404147" "45404147" "subst" "0" "01943" "DUOX2_000030" "g.45404147T>A" "" "" "" "DUOX2(NM_014080.4):c.332A>T (p.H111L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45111949T>A" "" "likely benign" "" "0000275763" "0" "10" "15" "45404066" "45404066" "subst" "0.870964" "01943" "DUOX2_000028" "g.45404066G>A" "" "" "" "DUOX2(NM_014080.4):c.413C>T (p.P138L), DUOX2(NM_014080.5):c.413C>T (p.P138L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45111868G>A" "" "benign" "" "0000454877" "21" "50" "15" "45402093" "45402093" "subst" "7.71586E-5" "00006" "DUOX2_000035" "g.45402093G>A" "" "{PMID:Helbig 2017:28195318}" "" "" "excluded single allele in AR disease gene inherited from the healthy mother with no clinical relevance to proband\'s presentation" "Germline" "" "" "0" "" "" "g.45109895G>A" "" "VUS" "" "0000554448" "0" "70" "15" "45386442" "45386442" "subst" "0" "02330" "DUOX2_000036" "g.45386442C>G" "" "" "" "DUOX2(NM_014080.5):c.4553G>C (p.G1518A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45094244C>G" "" "likely pathogenic" "" "0000554449" "0" "50" "15" "45386804" "45386804" "subst" "3.25386E-5" "02330" "DUOX2_000037" "g.45386804G>C" "" "" "" "DUOX2(NM_014080.5):c.4481C>G (p.P1494R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45094606G>C" "" "VUS" "" "0000554450" "0" "50" "15" "45387152" "45387152" "subst" "0" "02330" "DUOX2_000038" "g.45387152G>T" "" "" "" "DUOX2(NM_014080.5):c.4377C>A (p.D1459E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45094954G>T" "" "VUS" "" "0000554451" "0" "30" "15" "45387755" "45387755" "subst" "4.46679E-5" "01943" "DUOX2_000039" "g.45387755C>A" "" "" "" "DUOX2(NM_014080.4):c.4119G>T (p.E1373D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45095557C>A" "" "likely benign" "" "0000554452" "0" "70" "15" "45387794" "45387794" "subst" "2.0311E-5" "01943" "DUOX2_000040" "g.45387794C>T" "" "" "" "DUOX2(NM_014080.4):c.4081-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45095596C>T" "" "likely pathogenic" "" "0000554453" "0" "10" "15" "45388019" "45388019" "subst" "0.00177626" "02330" "DUOX2_000041" "g.45388019C>T" "" "" "" "DUOX2(NM_014080.5):c.4080+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45095821C>T" "" "benign" "" "0000554455" "0" "50" "15" "45388138" "45388138" "subst" "8.1215E-6" "02330" "DUOX2_000043" "g.45388138G>T" "" "" "" "DUOX2(NM_014080.5):c.3968C>A (p.A1323E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45095940G>T" "" "VUS" "" "0000554456" "0" "10" "15" "45388274" "45388274" "subst" "0.00383559" "02330" "DUOX2_000044" "g.45388274A>G" "" "" "" "DUOX2(NM_014080.5):c.3848-16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45096076A>G" "" "benign" "" "0000554457" "0" "10" "15" "45389524" "45389524" "subst" "0.00587093" "02330" "DUOX2_000045" "g.45389524C>T" "" "" "" "DUOX2(NM_001363711.2):c.3759G>A (p.(Pro1253=)), DUOX2(NM_014080.5):c.3759G>A (p.P1253=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45097326C>T" "" "benign" "" "0000554458" "0" "10" "15" "45391885" "45391885" "subst" "4.46682E-5" "02330" "DUOX2_000046" "g.45391885G>A" "" "" "" "DUOX2(NM_014080.5):c.3390C>T (p.I1130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45099687G>A" "" "benign" "" "0000554459" "0" "50" "15" "45391961" "45391961" "subst" "0" "01943" "DUOX2_000048" "g.45391961A>G" "" "" "" "DUOX2(NM_014080.4):c.3314T>C (p.L1105P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45099763A>G" "" "VUS" "" "0000554460" "0" "10" "15" "45392014" "45392014" "subst" "0.0029765" "02330" "DUOX2_000049" "g.45392014C>T" "" "" "" "DUOX2(NM_014080.5):c.3261G>A (p.A1087=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45099816C>T" "" "benign" "" "0000554461" "0" "90" "15" "45392025" "45392025" "subst" "8.52799E-5" "02325" "DUOX2_000050" "g.45392025G>A" "" "" "" "DUOX2(NM_014080.5):c.3250C>T (p.R1084*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45099827G>A" "" "pathogenic" "" "0000554462" "0" "10" "15" "45392351" "45392351" "subst" "0.00100389" "02330" "DUOX2_000051" "g.45392351C>T" "" "" "" "DUOX2(NM_014080.5):c.3081G>A (p.K1027=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45100153C>T" "" "benign" "" "0000554463" "0" "10" "15" "45392377" "45392377" "subst" "0.000829558" "02330" "DUOX2_000052" "g.45392377T>C" "" "" "" "DUOX2(NM_014080.5):c.3055A>G (p.M1019V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45100179T>C" "" "benign" "" "0000554464" "0" "10" "15" "45392390" "45392390" "subst" "0.0077325" "02330" "DUOX2_000053" "g.45392390C>T" "" "" "" "DUOX2(NM_014080.5):c.3042G>A (p.A1014=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45100192C>T" "" "benign" "" "0000554466" "0" "70" "15" "45394123" "45394124" "del" "0" "02330" "DUOX2_000055" "g.45394123_45394124del" "" "" "" "DUOX2(NM_014080.5):c.2719_2720delAT (p.M907Vfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45101925_45101926del" "" "likely pathogenic" "" "0000554467" "0" "50" "15" "45396194" "45396194" "subst" "0" "02330" "DUOX2_000056" "g.45396194C>A" "" "" "" "DUOX2(NM_014080.5):c.2618G>T (p.G873V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45103996C>A" "" "VUS" "" "0000554468" "0" "10" "15" "45397889" "45397889" "subst" "0.0674732" "02330" "DUOX2_000057" "g.45397889C>T" "" "" "" "DUOX2(NM_014080.5):c.2286G>A (p.Q762=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45105691C>T" "" "benign" "" "0000554469" "0" "10" "15" "45398369" "45398369" "subst" "0.0526089" "02330" "DUOX2_000058" "g.45398369C>T" "" "" "" "DUOX2(NM_014080.5):c.2102G>A (p.R701Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45106171C>T" "" "benign" "" "0000554470" "0" "50" "15" "45398420" "45398420" "subst" "0" "02330" "DUOX2_000059" "g.45398420A>T" "" "" "" "DUOX2(NM_014080.5):c.2051T>A (p.V684E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45106222A>T" "" "VUS" "" "0000554471" "0" "90" "15" "45398798" "45398798" "subst" "2.43663E-5" "02330" "DUOX2_000060" "g.45398798G>A" "" "" "" "DUOX2(NM_014080.5):c.1873C>T (p.R625*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45106600G>A" "" "pathogenic" "" "0000554473" "0" "10" "15" "45399533" "45399533" "subst" "0.00598931" "02330" "DUOX2_000062" "g.45399533C>T" "" "" "" "DUOX2(NM_014080.5):c.1693+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45107335C>T" "" "benign" "" "0000554474" "0" "50" "15" "45400396" "45400396" "subst" "0" "02330" "DUOX2_000063" "g.45400396A>G" "" "" "" "DUOX2(NM_014080.5):c.1423T>C (p.Y475H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45108198A>G" "" "VUS" "" "0000554475" "0" "50" "15" "45400404" "45400404" "subst" "0.000276328" "02330" "DUOX2_000064" "g.45400404G>T" "" "" "" "DUOX2(NM_001363711.2):c.1415C>A (p.A472D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45108206G>T" "" "VUS" "" "0000554476" "0" "10" "15" "45401134" "45401134" "subst" "8.12137E-6" "02330" "DUOX2_000065" "g.45401134A>G" "" "" "" "DUOX2(NM_014080.5):c.1251T>C (p.P417=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45108936A>G" "" "benign" "" "0000554477" "0" "50" "15" "45402159" "45402159" "subst" "0.000166499" "02330" "DUOX2_000066" "g.45402159G>A" "" "" "" "DUOX2(NM_014080.5):c.1060C>T (p.R354W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45109961G>A" "" "VUS" "" "0000554478" "0" "10" "15" "45402903" "45402903" "subst" "0.00381717" "02330" "DUOX2_000067" "g.45402903G>A" "" "" "" "DUOX2(NM_014080.5):c.888C>T (p.I296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45110705G>A" "" "benign" "" "0000554479" "0" "30" "15" "45403699" "45403699" "subst" "0.000905721" "02330" "DUOX2_000068" "g.45403699C>T" "" "" "" "DUOX2(NM_014080.4):c.598G>A (p.G200R), DUOX2(NM_014080.5):c.598G>A (p.G200R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45111501C>T" "" "likely benign" "" "0000554480" "0" "30" "15" "45403699" "45403699" "subst" "0.000905721" "01943" "DUOX2_000068" "g.45403699C>T" "" "" "" "DUOX2(NM_014080.4):c.598G>A (p.G200R), DUOX2(NM_014080.5):c.598G>A (p.G200R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45111501C>T" "" "likely benign" "" "0000554481" "0" "30" "15" "45403700" "45403700" "subst" "0.000912549" "01943" "DUOX2_000025" "g.45403700C>G" "" "" "" "DUOX2(NM_014080.4):c.597G>C (p.S199=), DUOX2(NM_014080.5):c.597G>C (p.S199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45111502C>G" "" "likely benign" "" "0000554482" "0" "90" "15" "45403700" "45403700" "dup" "0" "02330" "DUOX2_000069" "g.45403700dup" "" "" "" "DUOX2(NM_001363711.2):c.602dupG (p.Q202Tfs*99), DUOX2(NM_014080.4):c.602dupG (p.Q202Tfs*99), DUOX2(NM_014080.5):c.602dupG (p.Q202Tfs*99)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45111502dup" "" "pathogenic" "" "0000554483" "0" "90" "15" "45403700" "45403700" "dup" "0" "01943" "DUOX2_000069" "g.45403700dup" "" "" "" "DUOX2(NM_001363711.2):c.602dupG (p.Q202Tfs*99), DUOX2(NM_014080.4):c.602dupG (p.Q202Tfs*99), DUOX2(NM_014080.5):c.602dupG (p.Q202Tfs*99)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45111502dup" "" "pathogenic" "" "0000554484" "0" "90" "15" "45403700" "45403700" "dup" "0" "02325" "DUOX2_000069" "g.45403700dup" "" "" "" "DUOX2(NM_001363711.2):c.602dupG (p.Q202Tfs*99), DUOX2(NM_014080.4):c.602dupG (p.Q202Tfs*99), DUOX2(NM_014080.5):c.602dupG (p.Q202Tfs*99)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45111502dup" "" "pathogenic" "" "0000554485" "0" "10" "15" "45403787" "45403787" "subst" "0.000612313" "02330" "DUOX2_000070" "g.45403787C>T" "" "" "" "DUOX2(NM_014080.5):c.514-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45111589C>T" "" "benign" "" "0000554486" "0" "30" "15" "45403967" "45403967" "subst" "0.00280405" "02330" "DUOX2_000071" "g.45403967A>G" "" "" "" "DUOX2(NM_001363711.2):c.512T>C (p.L171P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45111769A>G" "" "likely benign" "" "0000554487" "0" "10" "15" "45403978" "45403978" "subst" "0.0032964" "02330" "DUOX2_000072" "g.45403978G>A" "" "" "" "DUOX2(NM_014080.5):c.501C>T (p.N167=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45111780G>A" "" "benign" "" "0000554488" "0" "10" "15" "45404074" "45404074" "subst" "0" "02330" "DUOX2_000073" "g.45404074A>G" "" "" "" "DUOX2(NM_014080.5):c.405T>C (p.P135=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45111876A>G" "" "benign" "" "0000554489" "0" "10" "15" "45404077" "45404077" "subst" "0" "02330" "DUOX2_000074" "g.45404077T>C" "" "" "" "DUOX2(NM_014080.5):c.402A>G (p.P134=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45111879T>C" "" "benign" "" "0000554490" "0" "10" "15" "45404774" "45404774" "subst" "0.00294997" "01943" "DUOX2_000032" "g.45404774G>T" "" "" "" "DUOX2(NM_014080.4):c.303C>A (p.R101=), DUOX2(NM_014080.5):c.303C>A (p.R101=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45112576G>T" "" "benign" "" "0000554491" "0" "50" "15" "45406813" "45406814" "dup" "0" "02330" "DUOX2_000075" "g.45406813_45406814dup" "" "" "" "DUOXA2(NM_207581.4):c.10_11dupTG (p.W4Cfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45114615_45114616dup" "" "VUS" "" "0000554492" "0" "30" "15" "45407978" "45407978" "subst" "0.000142232" "02330" "DUOX2_000076" "g.45407978C>A" "" "" "" "DUOXA2(NM_207581.4):c.148-19C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45115780C>A" "" "likely benign" "" "0000554493" "0" "50" "15" "45408723" "45408723" "subst" "2.84453E-5" "02330" "DUOX2_000077" "g.45408723T>C" "" "" "" "DUOXA2(NM_207581.4):c.350T>C (p.V117A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45116525T>C" "" "VUS" "" "0000554494" "0" "70" "15" "45408786" "45408786" "dup" "0" "02330" "DUOX2_000078" "g.45408786dup" "" "" "" "DUOXA2(NM_207581.4):c.413dupA (p.Y138*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45116588dup" "" "likely pathogenic" "" "0000554495" "0" "50" "15" "45408874" "45408874" "subst" "8.1318E-6" "02330" "DUOX2_000079" "g.45408874C>G" "" "" "" "DUOXA2(NM_207581.4):c.501C>G (p.C167W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45116676C>G" "" "VUS" "" "0000554496" "0" "10" "15" "45409271" "45409271" "subst" "0.851041" "02330" "DUOX2_000080" "g.45409271C>T" "" "" "" "DUOXA2(NM_207581.4):c.555-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45117073C>T" "" "benign" "" "0000554497" "0" "10" "15" "45409271" "45409271" "subst" "0.851041" "02325" "DUOX2_000080" "g.45409271C>T" "" "" "" "DUOXA2(NM_207581.4):c.555-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45117073C>T" "" "benign" "" "0000615338" "0" "90" "15" "45386443" "45386443" "subst" "8.17521E-5" "02330" "DUOX2_000081" "g.45386443C>T" "" "" "" "DUOX2(NM_014080.5):c.4552G>A (p.G1518S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45094245C>T" "" "pathogenic" "" "0000615339" "0" "50" "15" "45387667" "45387667" "subst" "0.00036545" "02330" "DUOX2_000082" "g.45387667A>T" "" "" "" "DUOX2(NM_014080.5):c.4207T>A (p.S1403T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45095469A>T" "" "VUS" "" "0000615340" "0" "50" "15" "45389543" "45389543" "subst" "0" "02330" "DUOX2_000083" "g.45389543T>A" "" "" "" "DUOX2(NM_014080.5):c.3740A>T (p.H1247L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45097345T>A" "" "VUS" "" "0000615341" "0" "10" "15" "45389890" "45389890" "subst" "0.00129154" "02330" "DUOX2_000084" "g.45389890G>A" "" "" "" "DUOX2(NM_014080.5):c.3615C>T (p.F1205=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45097692G>A" "" "benign" "" "0000615342" "0" "10" "15" "45390214" "45390214" "subst" "0.000389905" "02330" "DUOX2_000085" "g.45390214G>A" "" "" "" "DUOX2(NM_014080.5):c.3558C>T (p.T1186=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45098016G>A" "" "benign" "" "0000615343" "0" "10" "15" "45391661" "45391661" "subst" "0.00566412" "02330" "DUOX2_000086" "g.45391661G>A" "" "" "" "DUOX2(NM_014080.5):c.3435C>T (p.H1145=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45099463G>A" "" "benign" "" "0000615344" "0" "50" "15" "45392043" "45392043" "subst" "0.000491442" "02330" "DUOX2_000087" "g.45392043C>T" "" "" "" "DUOX2(NM_001363711.2):c.3232G>A (p.V1078M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45099845C>T" "" "VUS" "" "0000615345" "0" "90" "15" "45393428" "45393431" "del" "0" "02330" "DUOX2_000054" "g.45393428_45393431del" "" "" "" "DUOX2(NM_001363711.2):c.2895_2898delGTTC (p.F966Sfs*29), DUOX2(NM_014080.5):c.2895_2898delGTTC (p.F966Sfs*29)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45101230_45101233del" "" "pathogenic" "" "0000615346" "0" "30" "15" "45396354" "45396354" "subst" "0.00235983" "01943" "DUOX2_000089" "g.45396354C>G" "" "" "" "DUOX2(NM_001363711.1):c.2544G>C (p.L848=), DUOX2(NM_001363711.2):c.2544G>C (p.L848=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45104156C>G" "" "likely benign" "" "0000615347" "0" "10" "15" "45398760" "45398760" "subst" "0.000414193" "02330" "DUOX2_000090" "g.45398760G>A" "" "" "" "DUOX2(NM_014080.5):c.1911C>T (p.S637=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45106562G>A" "" "benign" "" "0000615348" "0" "30" "15" "45403730" "45403730" "subst" "0" "01943" "DUOX2_000026" "g.45403730G>A" "" "" "" "DUOX2(NM_014080.4):c.567C>T (p.H189=), DUOX2(NM_014080.5):c.567C>T (p.H189=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45111532G>A" "" "likely benign" "" "0000615349" "0" "10" "15" "45404834" "45404834" "subst" "0.00381651" "02330" "DUOX2_000093" "g.45404834C>T" "" "" "" "DUOX2(NM_014080.5):c.243G>A (p.P81=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45112636C>T" "" "benign" "" "0000615350" "0" "50" "15" "45409312" "45409312" "subst" "0" "02330" "DUOX2_000094" "g.45409312T>C" "" "" "" "DUOXA2(NM_207581.4):c.578T>C (p.L193P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45117114T>C" "" "VUS" "" "0000615351" "0" "50" "15" "45410032" "45410032" "dup" "0" "02330" "DUOX2_000095" "g.45410032dup" "" "" "" "DUOXA2(NM_207581.4):c.888dupA (p.P297Tfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45117834dup" "" "VUS" "" "0000623236" "0" "50" "15" "45394048" "45394048" "subst" "0.000349213" "02330" "DUOX2_000088" "g.45394048C>T" "" "" "" "DUOX2(NM_001363711.2):c.2794G>A (p.D932N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45101850C>T" "" "VUS" "" "0000623237" "0" "50" "15" "45400272" "45400272" "subst" "0.000101523" "02330" "DUOX2_000091" "g.45400272C>T" "" "" "" "DUOX2(NM_001363711.2):c.1547G>A (p.R516H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45108074C>T" "" "VUS" "" "0000623238" "0" "30" "15" "45403787" "45403787" "subst" "5.03271E-5" "01943" "DUOX2_000092" "g.45403787C>A" "" "" "" "DUOX2(NM_001363711.1):c.514-4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45111589C>A" "" "likely benign" "" "0000649082" "1" "50" "15" "45386810" "45386810" "subst" "0.000142384" "03575" "DUOX2_000096" "g.45386810C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs144543420}" "Germline" "" "rs144543420" "0" "" "" "g.45094612C>T" "" "VUS" "" "0000649083" "1" "50" "15" "45386877" "45386877" "subst" "0.000154761" "03575" "DUOX2_000097" "g.45386877G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs200785525}" "Germline" "" "rs200785525" "0" "" "" "g.45094679G>A" "" "VUS" "" "0000649084" "1" "50" "15" "45396159" "45396159" "subst" "3.65467E-5" "03575" "DUOX2_000098" "g.45396159G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs199589510}" "Germline" "" "rs199589510" "0" "" "" "g.45103961G>A" "" "VUS" "" "0000649085" "1" "50" "15" "45397884" "45397884" "subst" "4.06111E-6" "03575" "DUOX2_000099" "g.45397884C>T" "0/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs201884203}" "Germline" "" "rs201884203" "0" "" "" "g.45105686C>T" "" "VUS" "" "0000649086" "1" "10" "15" "45397993" "45397993" "subst" "0.00818146" "03575" "DUOX2_000015" "g.45397993C>T" "16/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "16 heterozygous, no homozygous; {DB:CLININrs138353181}" "Germline" "" "rs138353181" "0" "" "" "g.45105795C>T" "" "benign" "" "0000649087" "1" "50" "15" "45399036" "45399036" "subst" "7.60789E-5" "03575" "DUOX2_000100" "g.45399036G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs201221237}" "Germline" "" "rs201221237" "0" "" "" "g.45106838G>A" "" "VUS" "" "0000649088" "1" "50" "15" "45403764" "45403764" "subst" "0.000321769" "03575" "DUOX2_000101" "g.45403764C>A" "3/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs190660925}" "Germline" "" "rs190660925" "0" "" "" "g.45111566C>A" "" "VUS" "" "0000657585" "0" "50" "15" "45388026" "45388026" "subst" "4.07541E-6" "02330" "DUOX2_000102" "g.45388026C>A" "" "" "" "DUOX2(NM_001363711.2):c.4080G>T (p.K1360N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45095828C>A" "" "VUS" "" "0000657586" "0" "10" "15" "45392382" "45392382" "subst" "0.00819179" "01943" "DUOX2_000010" "g.45392382T>C" "" "" "" "DUOX2(NM_001363711.1):c.3050A>G (p.E1017G), DUOX2(NM_014080.5):c.3050A>G (p.E1017G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45100184T>C" "" "benign" "" "0000657587" "0" "50" "15" "45393430" "45393430" "subst" "7.3756E-5" "02330" "DUOX2_000103" "g.45393430G>A" "" "" "" "DUOX2(NM_001363711.2):c.2894C>T (p.S965L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45101232G>A" "" "VUS" "" "0000657588" "0" "50" "15" "45398776" "45398776" "subst" "0" "01943" "DUOX2_000104" "g.45398776T>C" "" "" "" "DUOX2(NM_001363711.1):c.1895A>G (p.K632R), DUOX2(NM_014080.4):c.1895A>G (p.K632R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45106578T>C" "" "VUS" "" "0000657589" "0" "50" "15" "45400338" "45400338" "subst" "0" "02330" "DUOX2_000105" "g.45400338C>T" "" "" "" "DUOX2(NM_001363711.2):c.1481G>A (p.G494E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45108140C>T" "" "VUS" "" "0000657590" "0" "10" "15" "45402883" "45402883" "subst" "0.0108165" "01943" "DUOX2_000024" "g.45402883G>C" "" "" "" "DUOX2(NM_001363711.1):c.908C>G (p.P303R), DUOX2(NM_014080.5):c.908C>G (p.P303R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45110685G>C" "" "benign" "" "0000657591" "0" "90" "15" "45403583" "45403583" "subst" "0" "01943" "DUOX2_000106" "g.45403583G>T" "" "" "" "DUOX2(NM_001363711.1):c.714C>A (p.Y238*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45111385G>T" "" "pathogenic" "" "0000669284" "3" "50" "15" "45397884" "45397884" "subst" "4.06111E-6" "03575" "DUOX2_000099" "g.45397884C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no heterozygous ; {DB:CLININrs201884203}" "Germline" "" "rs201884203" "0" "" "" "g.45105686C>T" "" "VUS" "" "0000673953" "2" "90" "15" "45389811" "45389811" "subst" "9.34435E-5" "03695" "DUOX2_000107" "g.45389811C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "" "0000673954" "2" "90" "15" "45396158" "45396158" "subst" "0.000109638" "03695" "DUOX2_000108" "g.45396158C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "" "0000680183" "0" "50" "15" "45394138" "45394138" "subst" "0.000422345" "01943" "DUOX2_000109" "g.45394138C>T" "" "" "" "DUOX2(NM_001363711.1):c.2704G>A (p.E902K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691805" "0" "70" "15" "45392428" "45392428" "subst" "0.000110764" "01943" "DUOX2_000110" "g.45392428T>C" "" "" "" "DUOX2(NM_001363711.1):c.3006-2A>G, DUOX2(NM_014080.4):c.3006-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000691806" "0" "30" "15" "45398750" "45398750" "subst" "0.0030292" "01943" "DUOX2_000111" "g.45398750C>T" "" "" "" "DUOX2(NM_001363711.1):c.1921G>A (p.E641K), DUOX2(NM_001363711.2):c.1921G>A (p.E641K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000695600" "0" "70" "15" "45386764" "45386764" "del" "0" "01807" "DUOX2_000112" "g.45386764del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000725127" "0" "50" "15" "45386366" "45386368" "del" "0" "02330" "DUOX2_000113" "g.45386366_45386368del" "" "" "" "DUOX2(NM_001363711.2):c.4630_4632delCAC (p.H1544del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725128" "0" "30" "15" "45386839" "45386839" "subst" "3.25423E-5" "01943" "DUOX2_000114" "g.45386839C>T" "" "" "" "DUOX2(NM_001363711.1):c.4446G>A (p.T1482=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725129" "0" "30" "15" "45392396" "45392396" "subst" "0" "01943" "DUOX2_000115" "g.45392396T>C" "" "" "" "DUOX2(NM_014080.4):c.3036A>G (p.T1012=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725130" "0" "30" "15" "45398750" "45398750" "subst" "0.0030292" "02330" "DUOX2_000111" "g.45398750C>T" "" "" "" "DUOX2(NM_001363711.1):c.1921G>A (p.E641K), DUOX2(NM_001363711.2):c.1921G>A (p.E641K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725131" "0" "50" "15" "45398803" "45398803" "subst" "4.06124E-6" "02330" "DUOX2_000116" "g.45398803C>G" "" "" "" "DUOX2(NM_001363711.2):c.1868G>C (p.R623P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725132" "0" "30" "15" "45401045" "45401045" "subst" "0" "01943" "DUOX2_000117" "g.45401045G>A" "" "" "" "DUOX2(NM_014080.4):c.1340C>T (p.A447V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806705" "0" "30" "15" "45386382" "45386382" "subst" "1.6259E-5" "01943" "DUOX2_000118" "g.45386382C>T" "" "" "" "DUOX2(NM_001363711.1):c.4613G>A (p.R1538Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806706" "0" "30" "15" "45393418" "45393418" "subst" "0.000945943" "02330" "DUOX2_000119" "g.45393418C>T" "" "" "" "DUOX2(NM_001363711.2):c.2906G>A (p.R969Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806707" "0" "10" "15" "45396354" "45396354" "subst" "0.00235983" "02330" "DUOX2_000089" "g.45396354C>G" "" "" "" "DUOX2(NM_001363711.1):c.2544G>C (p.L848=), DUOX2(NM_001363711.2):c.2544G>C (p.L848=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000806708" "0" "30" "15" "45402716" "45402716" "subst" "6.90507E-5" "01943" "DUOX2_000120" "g.45402716C>T" "" "" "" "DUOX2(NM_001363711.1):c.950G>A (p.R317H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806709" "0" "10" "15" "45408709" "45408709" "subst" "0" "02330" "DUOX2_000121" "g.45408709C>A" "" "" "" "DUOXA2(NM_207581.4):c.341-5C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000806710" "0" "90" "15" "45408787" "45408787" "subst" "0" "02330" "DUOX2_000122" "g.45408787C>G" "" "" "" "DUOXA2(NM_207581.4):c.414C>G (p.Y138*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000806711" "0" "50" "15" "45408924" "45408924" "subst" "0" "02330" "DUOX2_000123" "g.45408924T>A" "" "" "" "DUOXA2(NM_207581.4):c.551T>A (p.L184Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854028" "0" "50" "15" "45392277" "45392277" "subst" "0.00129551" "02330" "DUOX2_000124" "g.45392277C>T" "" "" "" "DUOX2(NM_001363711.2):c.3155G>A (p.C1052Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854029" "0" "10" "15" "45401083" "45401083" "subst" "0.00683407" "02330" "DUOX2_000126" "g.45401083T>C" "" "" "" "DUOX2(NM_001363711.2):c.1302A>G (p.R434=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000854030" "0" "10" "15" "45402735" "45402735" "subst" "6.50026E-5" "02330" "DUOX2_000127" "g.45402735G>C" "" "" "" "DUOX2(NM_001363711.2):c.944-13C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000854031" "0" "30" "15" "45409732" "45409732" "subst" "0.102524" "02330" "DUOX2_000129" "g.45409732C>G" "" "" "" "DUOXA1(NM_144565.4):c.1433G>C (p.R478P), DUOXA2(NM_207581.4):c.770-182C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863856" "0" "10" "15" "45392285" "45392285" "subst" "1.21837E-5" "02330" "DUOX2_000125" "g.45392285C>A" "" "" "" "DUOX2(NM_001363711.2):c.3147G>T (p.S1049=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863857" "0" "50" "15" "45405625" "45405625" "subst" "0" "01943" "DUOX2_000128" "g.45405625T>C" "" "" "" "DUOX2(NM_014080.4):c.-14-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892070" "0" "30" "15" "45388020" "45388020" "subst" "0.000106191" "02330" "DUOX2_000130" "g.45388020G>A" "" "" "" "DUOX2(NM_001363711.2):c.4080+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892071" "0" "50" "15" "45388079" "45388079" "subst" "0.000540194" "02330" "DUOX2_000042" "g.45388079G>A" "" "" "" "DUOX2(NM_001363711.2):c.4027C>T (p.L1343F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892072" "0" "50" "15" "45391640" "45391640" "subst" "4.06286E-6" "02330" "DUOX2_000131" "g.45391640G>A" "" "" "" "DUOX2(NM_001363711.2):c.3456C>T (p.F1152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892073" "0" "50" "15" "45391908" "45391908" "subst" "0.001003" "02325" "DUOX2_000047" "g.45391908C>T" "" "" "" "DUOX2(NM_001363711.2):c.3367G>A (p.A1123T), DUOX2(NM_014080.5):c.3367G>A (p.A1123T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892074" "0" "50" "15" "45392065" "45392065" "subst" "8.12876E-5" "02330" "DUOX2_000132" "g.45392065C>T" "" "" "" "DUOX2(NM_001363711.2):c.3210G>A (p.S1070=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892075" "0" "90" "15" "45392371" "45392371" "subst" "1.22016E-5" "02330" "DUOX2_000133" "g.45392371G>A" "" "" "" "DUOX2(NM_001363711.2):c.3061C>T (p.R1021*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892076" "0" "90" "15" "45393428" "45393431" "del" "0" "02325" "DUOX2_000054" "g.45393428_45393431del" "" "" "" "DUOX2(NM_001363711.2):c.2895_2898delGTTC (p.F966Sfs*29), DUOX2(NM_014080.5):c.2895_2898delGTTC (p.F966Sfs*29)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892077" "0" "50" "15" "45396158" "45396158" "subst" "0.000397944" "02330" "DUOX2_000134" "g.45396158C>A" "" "" "" "DUOX2(NM_001363711.2):c.2654G>T (p.R885L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892078" "0" "30" "15" "45399075" "45399075" "subst" "0.00660773" "02330" "DUOX2_000135" "g.45399075G>A" "" "" "" "DUOX2(NM_001363711.2):c.1786C>T (p.P596S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892079" "0" "10" "15" "45399615" "45399615" "subst" "0.00102326" "02330" "DUOX2_000136" "g.45399615G>T" "" "" "" "DUOX2(NM_001363711.2):c.1621C>A (p.R541=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892080" "0" "90" "15" "45400291" "45400291" "del" "0" "02330" "DUOX2_000137" "g.45400291del" "" "" "" "DUOX2(NM_001363711.2):c.1528delC (p.R510Gfs*76)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892081" "0" "30" "15" "45403797" "45403797" "subst" "0.00246778" "02330" "DUOX2_000138" "g.45403797G>C" "" "" "" "DUOX2(NM_001363711.2):c.514-14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892082" "0" "30" "15" "45410225" "45410225" "subst" "0" "02330" "DUOX2_000139" "g.45410225C>T" "" "" "" "DUOXA2(NM_207581.4):c.*118C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914294" "0" "50" "15" "45397885" "45397885" "subst" "0.000312708" "02330" "DUOX2_000140" "g.45397885G>A" "" "" "" "DUOX2(NM_001363711.2):c.2290C>T (p.R764W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925968" "0" "30" "15" "45402080" "45402080" "subst" "0.000150248" "02330" "DUOX2_000141" "g.45402080A>G" "" "" "" "DUOX2(NM_001363711.2):c.1131+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930382" "0" "50" "15" "45391908" "45391908" "subst" "0.001003" "02330" "DUOX2_000047" "g.45391908C>T" "" "" "" "DUOX2(NM_001363711.2):c.3367G>A (p.A1123T), DUOX2(NM_014080.5):c.3367G>A (p.A1123T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930383" "0" "50" "15" "45401069" "45401069" "subst" "0" "02330" "DUOX2_000142" "g.45401069G>A" "" "" "" "DUOX2(NM_001363711.2):c.1316C>T (p.P439L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950350" "0" "10" "15" "45388185" "45388185" "subst" "6.4972E-5" "02330" "DUOX2_000143" "g.45388185G>A" "" "" "" "DUOX2(NM_001363711.2):c.3921C>T (p.C1307=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000952347" "3" "50" "15" "45404133" "45404133" "subst" "0" "00006" "DUOX2_000144" "g.45404133C>T" "" "{PMID:Chatron 2020:32282878}" "" "NM_014080:c.346G>A" "" "Germline" "" "" "0" "" "" "g.45111935C>T" "" "VUS" "" "0000952360" "3" "50" "15" "45404133" "45404133" "subst" "0" "00006" "DUOX2_000144" "g.45404133C>T" "" "{PMID:Chatron 2020:32282878}" "" "NM_014080:c.346G>A" "" "Germline" "" "" "0" "" "" "g.45111935C>T" "" "VUS" "" "0000981234" "0" "30" "15" "45389524" "45389524" "subst" "0.00587093" "01804" "DUOX2_000045" "g.45389524C>T" "" "" "" "DUOX2(NM_001363711.2):c.3759G>A (p.(Pro1253=)), DUOX2(NM_014080.5):c.3759G>A (p.P1253=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981235" "0" "50" "15" "45404804" "45404804" "subst" "8.26119E-6" "01804" "DUOX2_000145" "g.45404804G>A" "" "" "" "DUOX2(NM_001363711.2):c.273C>T (p.(Gly91=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000989629" "0" "90" "15" "45399152" "45399152" "subst" "0.00137844" "00006" "DUOX2_000061" "g.45399152T>A" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "DUOX2 1709A>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.45106954T>A" "" "pathogenic" "" "0001001439" "0" "50" "15" "45389859" "45389859" "subst" "4.46795E-5" "01804" "DUOX2_000146" "g.45389859G>A" "" "" "" "DUOX2(NM_014080.4):c.3646C>T (p.(Arg1216Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001440" "0" "30" "15" "45392329" "45392329" "subst" "0.000337198" "01804" "DUOX2_000147" "g.45392329C>T" "" "" "" "DUOX2(NM_014080.4):c.3103G>A (p.(Val1035Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026440" "0" "50" "15" "45401837" "45401837" "subst" "4.06121E-6" "02330" "DUOX2_000148" "g.45401837A>T" "" "" "" "DUOX2(NM_001363711.2):c.1132-13T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040379" "0" "50" "15" "45404042" "45404042" "subst" "8.19766E-6" "02330" "DUOX2_000149" "g.45404042C>T" "" "" "" "DUOX2(NM_001363711.2):c.437G>A (p.G146E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040380" "0" "50" "15" "45408041" "45408041" "subst" "4.46762E-5" "01804" "DUOX2_000150" "g.45408041C>T" "" "" "" "DUOXA2(NM_207581.4):c.192C>T (p.(Gly64=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040381" "0" "10" "15" "45410011" "45410011" "subst" "0" "02330" "DUOX2_000151" "g.45410011C>T" "" "" "" "DUOXA2(NM_207581.4):c.867C>T (p.C289=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001040382" "0" "30" "15" "45411399" "45411399" "subst" "0.00306238" "02330" "DUOX2_000152" "g.45411399T>C" "" "" "" "DUOXA1(NM_001276266.2):c.937A>G (p.S313G)" "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 DUOX2 ## Count = 194 "{{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}}" "0000005453" "00000822" "50" "3515" "15" "3515" "15" "c.3515+15T>A" "r.(=)" "p.(=)" "" "0000013402" "00000822" "50" "3515" "15" "3515" "15" "c.3515+15T>A" "r.(=)" "p.(=)" "" "0000247300" "00000822" "10" "3515" "15" "3515" "15" "c.3515+15T>A" "r.(=)" "p.(=)" "" "0000247320" "00000822" "10" "-2554" "0" "-2554" "0" "c.-2554T>C" "r.(?)" "p.(=)" "" "0000247339" "00000822" "10" "3856" "0" "3856" "0" "c.3856T>C" "r.(?)" "p.(Tyr1286His)" "" "0000247357" "00000822" "50" "-1871" "0" "-1871" "0" "c.-1871T>G" "r.(?)" "p.(=)" "" "0000247931" "00000822" "10" "3515" "15" "3515" "15" "c.3515+15T>A" "r.(=)" "p.(=)" "" "0000248450" "00000822" "10" "-2554" "0" "-2554" "0" "c.-2554T>C" "r.(?)" "p.(=)" "" "0000253192" "00000822" "10" "3515" "15" "3515" "15" "c.3515+15T>A" "r.(=)" "p.(=)" "" "0000265719" "00000822" "10" "1461" "0" "1461" "0" "c.1461G>C" "r.(?)" "p.(Gly487=)" "" "0000265720" "00000822" "50" "1516" "0" "1516" "0" "c.1516G>A" "r.(?)" "p.(Asp506Asn)" "" "0000265721" "00000822" "50" "1946" "0" "1946" "0" "c.1946C>A" "r.(?)" "p.(Ala649Glu)" "" "0000265722" "00000822" "10" "1962" "0" "1962" "0" "c.1962C>T" "r.(?)" "p.(Gly654=)" "" "0000265723" "00000822" "30" "2033" "0" "2033" "0" "c.2033A>G" "r.(?)" "p.(His678Arg)" "" "0000265724" "00000822" "10" "2148" "10" "2148" "10" "c.2148+10G>A" "r.(=)" "p.(=)" "" "0000265725" "00000822" "10" "2148" "9" "2148" "9" "c.2148+9C>T" "r.(=)" "p.(=)" "" "0000265726" "00000822" "30" "2182" "0" "2182" "0" "c.2182G>A" "r.(?)" "p.(Ala728Thr)" "" "0000265727" "00000822" "10" "2334" "10" "2334" "10" "c.2334+10C>T" "r.(=)" "p.(=)" "" "0000265728" "00000822" "30" "2835" "0" "2835" "0" "c.2835A>G" "r.(?)" "p.(Gly945=)" "" "0000265729" "00000822" "10" "2944" "0" "2944" "0" "c.2944C>G" "r.(?)" "p.(Pro982Ala)" "" "0000265730" "00000822" "10" "303" "0" "303" "0" "c.303C>A" "r.(?)" "p.(Arg101=)" "" "0000265731" "00000822" "50" "3041" "0" "3041" "0" "c.3041C>T" "r.(?)" "p.(Ala1014Val)" "" "0000265732" "00000822" "10" "3050" "0" "3050" "0" "c.3050A>G" "r.(?)" "p.(Glu1017Gly)" "" "0000265733" "00000822" "50" "314" "0" "314" "0" "c.314G>A" "r.(?)" "p.(Gly105Glu)" "" "0000265734" "00000822" "10" "3185" "-9" "3185" "-9" "c.3185-9C>T" "r.(=)" "p.(=)" "" "0000265735" "00000822" "10" "3200" "0" "3200" "0" "c.3200C>T" "r.(?)" "p.(Ser1067Leu)" "" "0000265736" "00000822" "30" "3667" "0" "3667" "0" "c.3667C>G" "r.(?)" "p.(His1223Asp)" "" "0000265737" "00000822" "10" "381" "0" "381" "0" "c.381G>A" "r.(?)" "p.(Glu127=)" "" "0000265738" "00000822" "50" "3830" "0" "3830" "0" "c.3830C>G" "r.(?)" "p.(Ala1277Gly)" "" "0000265739" "00000822" "10" "3966" "0" "3966" "0" "c.3966C>T" "r.(?)" "p.(Ser1322=)" "" "0000265740" "00000822" "10" "413" "0" "413" "0" "c.413C>T" "r.(?)" "p.(Pro138Leu)" "" "0000265741" "00000822" "10" "4479" "0" "4479" "0" "c.4479C>G" "r.(?)" "p.(Pro1493=)" "" "0000265742" "00000822" "10" "558" "0" "558" "0" "c.558C>T" "r.(?)" "p.(Gly186=)" "" "0000265743" "00000822" "10" "567" "0" "567" "0" "c.567C>T" "r.(?)" "p.(His189=)" "" "0000265744" "00000822" "10" "597" "0" "597" "0" "c.597G>C" "r.(?)" "p.(Ser199=)" "" "0000265745" "00000822" "30" "908" "0" "908" "0" "c.908C>G" "r.(?)" "p.(Pro303Arg)" "" "0000265746" "00000822" "10" "943" "18" "943" "18" "c.943+18G>C" "r.(=)" "p.(=)" "" "0000265748" "00000822" "50" "-1842" "0" "-1842" "0" "c.-1842C>T" "r.(?)" "p.(=)" "" "0000265749" "00000822" "10" "-2258" "0" "-2258" "0" "c.-2258G>C" "r.(?)" "p.(=)" "" "0000265750" "00000822" "10" "-2543" "0" "-2543" "0" "c.-2543G>A" "r.(?)" "p.(=)" "" "0000265751" "00000822" "10" "-2736" "0" "-2736" "0" "c.-2736G>A" "r.(?)" "p.(=)" "" "0000265752" "00000822" "10" "-698" "0" "-698" "0" "c.-698G>A" "r.(?)" "p.(=)" "" "0000265753" "00000822" "10" "-2777" "0" "-2777" "0" "c.-2777A>G" "r.(?)" "p.(=)" "" "0000265754" "00000822" "50" "-3189" "0" "-3189" "0" "c.-3189A>G" "r.(?)" "p.(=)" "" "0000265755" "00000822" "10" "-3217" "0" "-3217" "0" "c.-3217G>T" "r.(?)" "p.(=)" "" "0000265756" "00000822" "10" "-3316" "0" "-3316" "0" "c.-3316G>A" "r.(?)" "p.(=)" "" "0000267716" "00000822" "10" "1461" "0" "1461" "0" "c.1461G>C" "r.(?)" "p.(Gly487=)" "" "0000267717" "00000822" "10" "3200" "0" "3200" "0" "c.3200C>T" "r.(?)" "p.(Ser1067Leu)" "" "0000267718" "00000822" "10" "413" "0" "413" "0" "c.413C>T" "r.(?)" "p.(Pro138Leu)" "" "0000267719" "00000822" "10" "-2258" "0" "-2258" "0" "c.-2258G>C" "r.(?)" "p.(=)" "" "0000267720" "00000822" "10" "-2543" "0" "-2543" "0" "c.-2543G>A" "r.(?)" "p.(=)" "" "0000267721" "00000822" "10" "-2777" "0" "-2777" "0" "c.-2777A>G" "r.(?)" "p.(=)" "" "0000275757" "00000822" "10" "1461" "0" "1461" "0" "c.1461G>C" "r.(?)" "p.(Gly487=)" "" "0000275758" "00000822" "30" "201" "0" "201" "0" "c.201C>T" "r.(?)" "p.(Asp67=)" "" "0000275759" "00000822" "30" "28" "0" "28" "0" "c.28A>T" "r.(?)" "p.(Met10Leu)" "" "0000275760" "00000822" "50" "3175" "0" "3175" "0" "c.3175C>T" "r.(?)" "p.(Arg1059Cys)" "" "0000275761" "00000822" "10" "3200" "0" "3200" "0" "c.3200C>T" "r.(?)" "p.(Ser1067Leu)" "" "0000275762" "00000822" "30" "332" "0" "332" "0" "c.332A>T" "r.(?)" "p.(His111Leu)" "" "0000275763" "00000822" "10" "413" "0" "413" "0" "c.413C>T" "r.(?)" "p.(Pro138Leu)" "" "0000454877" "00000822" "50" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Arg376Trp)" "" "0000554448" "00000822" "70" "4553" "0" "4553" "0" "c.4553G>C" "r.(?)" "p.(Gly1518Ala)" "" "0000554449" "00000822" "50" "4481" "0" "4481" "0" "c.4481C>G" "r.(?)" "p.(Pro1494Arg)" "" "0000554450" "00000822" "50" "4377" "0" "4377" "0" "c.4377C>A" "r.(?)" "p.(Asp1459Glu)" "" "0000554451" "00000822" "30" "4119" "0" "4119" "0" "c.4119G>T" "r.(?)" "p.(Glu1373Asp)" "" "0000554452" "00000822" "70" "4081" "-1" "4081" "-1" "c.4081-1G>A" "r.spl?" "p.?" "" "0000554453" "00000822" "10" "4080" "7" "4080" "7" "c.4080+7G>A" "r.(=)" "p.(=)" "" "0000554455" "00000822" "50" "3968" "0" "3968" "0" "c.3968C>A" "r.(?)" "p.(Ala1323Glu)" "" "0000554456" "00000822" "10" "3848" "-16" "3848" "-16" "c.3848-16T>C" "r.(=)" "p.(=)" "" "0000554457" "00000822" "10" "3759" "0" "3759" "0" "c.3759G>A" "r.(?)" "p.(Pro1253=)" "" "0000554458" "00000822" "10" "3390" "0" "3390" "0" "c.3390C>T" "r.(?)" "p.(Ile1130=)" "" "0000554459" "00000822" "50" "3314" "0" "3314" "0" "c.3314T>C" "r.(?)" "p.(Leu1105Pro)" "" "0000554460" "00000822" "10" "3261" "0" "3261" "0" "c.3261G>A" "r.(?)" "p.(Ala1087=)" "" "0000554461" "00000822" "90" "3250" "0" "3250" "0" "c.3250C>T" "r.(?)" "p.(Arg1084Ter)" "" "0000554462" "00000822" "10" "3081" "0" "3081" "0" "c.3081G>A" "r.(?)" "p.(Lys1027=)" "" "0000554463" "00000822" "10" "3055" "0" "3055" "0" "c.3055A>G" "r.(?)" "p.(Met1019Val)" "" "0000554464" "00000822" "10" "3042" "0" "3042" "0" "c.3042G>A" "r.(?)" "p.(Ala1014=)" "" "0000554466" "00000822" "70" "2719" "0" "2720" "0" "c.2719_2720del" "r.(?)" "p.(Met907ValfsTer25)" "" "0000554467" "00000822" "50" "2618" "0" "2618" "0" "c.2618G>T" "r.(?)" "p.(Gly873Val)" "" "0000554468" "00000822" "10" "2286" "0" "2286" "0" "c.2286G>A" "r.(?)" "p.(Gln762=)" "" "0000554469" "00000822" "10" "2102" "0" "2102" "0" "c.2102G>A" "r.(?)" "p.(Arg701Gln)" "" "0000554470" "00000822" "50" "2051" "0" "2051" "0" "c.2051T>A" "r.(?)" "p.(Val684Glu)" "" "0000554471" "00000822" "90" "1873" "0" "1873" "0" "c.1873C>T" "r.(?)" "p.(Arg625Ter)" "" "0000554473" "00000822" "10" "1693" "10" "1693" "10" "c.1693+10G>A" "r.(=)" "p.(=)" "" "0000554474" "00000822" "50" "1423" "0" "1423" "0" "c.1423T>C" "r.(?)" "p.(Tyr475His)" "" "0000554475" "00000822" "50" "1415" "0" "1415" "0" "c.1415C>A" "r.(?)" "p.(Ala472Asp)" "" "0000554476" "00000822" "10" "1251" "0" "1251" "0" "c.1251T>C" "r.(?)" "p.(Pro417=)" "" "0000554477" "00000822" "50" "1060" "0" "1060" "0" "c.1060C>T" "r.(?)" "p.(Arg354Trp)" "" "0000554478" "00000822" "10" "888" "0" "888" "0" "c.888C>T" "r.(?)" "p.(Ile296=)" "" "0000554479" "00000822" "30" "598" "0" "598" "0" "c.598G>A" "r.(?)" "p.(Gly200Arg)" "" "0000554480" "00000822" "30" "598" "0" "598" "0" "c.598G>A" "r.(?)" "p.(Gly200Arg)" "" "0000554481" "00000822" "30" "597" "0" "597" "0" "c.597G>C" "r.(?)" "p.(Ser199=)" "" "0000554482" "00000822" "90" "602" "0" "602" "0" "c.602dup" "r.(?)" "p.(Gln202ThrfsTer99)" "" "0000554483" "00000822" "90" "602" "0" "602" "0" "c.602dup" "r.(?)" "p.(Gln202ThrfsTer99)" "" "0000554484" "00000822" "90" "602" "0" "602" "0" "c.602dup" "r.(?)" "p.(Gln202ThrfsTer99)" "" "0000554485" "00000822" "10" "514" "-4" "514" "-4" "c.514-4G>A" "r.spl?" "p.?" "" "0000554486" "00000822" "30" "512" "0" "512" "0" "c.512T>C" "r.(?)" "p.(Leu171Pro)" "" "0000554487" "00000822" "10" "501" "0" "501" "0" "c.501C>T" "r.(?)" "p.(Asn167=)" "" "0000554488" "00000822" "10" "405" "0" "405" "0" "c.405T>C" "r.(?)" "p.(Pro135=)" "" "0000554489" "00000822" "10" "402" "0" "402" "0" "c.402A>G" "r.(?)" "p.(Pro134=)" "" "0000554490" "00000822" "10" "303" "0" "303" "0" "c.303C>A" "r.(?)" "p.(Arg101=)" "" "0000554491" "00000822" "50" "-656" "0" "-655" "0" "c.-656_-655dup" "r.(?)" "p.(=)" "" "0000554492" "00000822" "30" "-1822" "0" "-1822" "0" "c.-1822G>T" "r.(?)" "p.(=)" "" "0000554493" "00000822" "50" "-2567" "0" "-2567" "0" "c.-2567A>G" "r.(?)" "p.(=)" "" "0000554494" "00000822" "70" "-2630" "0" "-2630" "0" "c.-2630dup" "r.(?)" "p.(=)" "" "0000554495" "00000822" "50" "-2718" "0" "-2718" "0" "c.-2718G>C" "r.(?)" "p.(=)" "" "0000554496" "00000822" "10" "-3115" "0" "-3115" "0" "c.-3115G>A" "r.(?)" "p.(=)" "" "0000554497" "00000822" "10" "-3115" "0" "-3115" "0" "c.-3115G>A" "r.(?)" "p.(=)" "" "0000615338" "00000822" "90" "4552" "0" "4552" "0" "c.4552G>A" "r.(?)" "p.(Gly1518Ser)" "" "0000615339" "00000822" "50" "4207" "0" "4207" "0" "c.4207T>A" "r.(?)" "p.(Ser1403Thr)" "" "0000615340" "00000822" "50" "3740" "0" "3740" "0" "c.3740A>T" "r.(?)" "p.(His1247Leu)" "" "0000615341" "00000822" "10" "3615" "0" "3615" "0" "c.3615C>T" "r.(?)" "p.(Phe1205=)" "" "0000615342" "00000822" "10" "3558" "0" "3558" "0" "c.3558C>T" "r.(?)" "p.(Thr1186=)" "" "0000615343" "00000822" "10" "3435" "0" "3435" "0" "c.3435C>T" "r.(?)" "p.(His1145=)" "" "0000615344" "00000822" "50" "3232" "0" "3232" "0" "c.3232G>A" "r.(?)" "p.(Val1078Met)" "" "0000615345" "00000822" "90" "2895" "0" "2898" "0" "c.2895_2898del" "r.(?)" "p.(Phe966SerfsTer29)" "" "0000615346" "00000822" "30" "2544" "0" "2544" "0" "c.2544G>C" "r.(?)" "p.(Leu848=)" "" "0000615347" "00000822" "10" "1911" "0" "1911" "0" "c.1911C>T" "r.(?)" "p.(Ser637=)" "" "0000615348" "00000822" "30" "567" "0" "567" "0" "c.567C>T" "r.(?)" "p.(His189=)" "" "0000615349" "00000822" "10" "243" "0" "243" "0" "c.243G>A" "r.(?)" "p.(Pro81=)" "" "0000615350" "00000822" "50" "-3156" "0" "-3156" "0" "c.-3156A>G" "r.(?)" "p.(=)" "" "0000615351" "00000822" "50" "-3876" "0" "-3876" "0" "c.-3876dup" "r.(?)" "p.(=)" "" "0000623236" "00000822" "50" "2794" "0" "2794" "0" "c.2794G>A" "r.(?)" "p.(Asp932Asn)" "" "0000623237" "00000822" "50" "1547" "0" "1547" "0" "c.1547G>A" "r.(?)" "p.(Arg516His)" "" "0000623238" "00000822" "30" "514" "-4" "514" "-4" "c.514-4G>T" "r.spl?" "p.?" "" "0000649082" "00000822" "50" "4475" "0" "4475" "0" "c.4475G>A" "r.(?)" "p.(Arg1492His)" "" "0000649083" "00000822" "50" "4408" "0" "4408" "0" "c.4408C>T" "r.(?)" "p.(Arg1470Trp)" "" "0000649084" "00000822" "50" "2653" "0" "2653" "0" "c.2653C>T" "r.(?)" "p.(Arg885*)" "" "0000649085" "00000822" "50" "2291" "0" "2291" "0" "c.2291G>A" "r.(?)" "p.(Arg764Gln)" "" "0000649086" "00000822" "10" "2182" "0" "2182" "0" "c.2182G>A" "r.(?)" "p.(Ala728Thr)" "" "0000649087" "00000822" "50" "1825" "0" "1825" "0" "c.1825C>T" "r.(?)" "p.(Pro609Ser)" "" "0000649088" "00000822" "50" "533" "0" "533" "0" "c.533G>T" "r.(?)" "p.(Trp178Leu)" "" "0000657585" "00000822" "50" "4080" "0" "4080" "0" "c.4080G>T" "r.(?)" "p.(Lys1360Asn)" "" "0000657586" "00000822" "10" "3050" "0" "3050" "0" "c.3050A>G" "r.(?)" "p.(Glu1017Gly)" "" "0000657587" "00000822" "50" "2894" "0" "2894" "0" "c.2894C>T" "r.(?)" "p.(Ser965Leu)" "" "0000657588" "00000822" "50" "1895" "0" "1895" "0" "c.1895A>G" "r.(?)" "p.(Lys632Arg)" "" "0000657589" "00000822" "50" "1481" "0" "1481" "0" "c.1481G>A" "r.(?)" "p.(Gly494Glu)" "" "0000657590" "00000822" "10" "908" "0" "908" "0" "c.908C>G" "r.(?)" "p.(Pro303Arg)" "" "0000657591" "00000822" "90" "714" "0" "714" "0" "c.714C>A" "r.(?)" "p.(Tyr238Ter)" "" "0000669284" "00000822" "50" "2291" "0" "2291" "0" "c.2291G>A" "r.(?)" "p.(Arg764Gln)" "" "0000673953" "00000822" "90" "3693" "1" "3693" "1" "c.3693+1G>T" "r.spl?" "p.?" "" "0000673954" "00000822" "90" "2654" "0" "2654" "0" "c.2654G>A" "r.(?)" "p.(Arg885Gln)" "" "0000680183" "00000822" "50" "2704" "0" "2704" "0" "c.2704G>A" "r.(?)" "p.(Glu902Lys)" "" "0000691805" "00000822" "70" "3006" "-2" "3006" "-2" "c.3006-2A>G" "r.spl?" "p.?" "" "0000691806" "00000822" "30" "1921" "0" "1921" "0" "c.1921G>A" "r.(?)" "p.(Glu641Lys)" "" "0000695600" "00000822" "70" "4521" "0" "4521" "0" "c.4521del" "r.(?)" "p.(Gln1508ArgfsTer15)" "" "0000725127" "00000822" "50" "4630" "0" "4632" "0" "c.4630_4632del" "r.(?)" "p.(His1544del)" "" "0000725128" "00000822" "30" "4446" "0" "4446" "0" "c.4446G>A" "r.(?)" "p.(Thr1482=)" "" "0000725129" "00000822" "30" "3036" "0" "3036" "0" "c.3036A>G" "r.(?)" "p.(Thr1012=)" "" "0000725130" "00000822" "30" "1921" "0" "1921" "0" "c.1921G>A" "r.(?)" "p.(Glu641Lys)" "" "0000725131" "00000822" "50" "1868" "0" "1868" "0" "c.1868G>C" "r.(?)" "p.(Arg623Pro)" "" "0000725132" "00000822" "30" "1340" "0" "1340" "0" "c.1340C>T" "r.(?)" "p.(Ala447Val)" "" "0000806705" "00000822" "30" "4613" "0" "4613" "0" "c.4613G>A" "r.(?)" "p.(Arg1538Gln)" "" "0000806706" "00000822" "30" "2906" "0" "2906" "0" "c.2906G>A" "r.(?)" "p.(Arg969Gln)" "" "0000806707" "00000822" "10" "2544" "0" "2544" "0" "c.2544G>C" "r.(?)" "p.(Leu848=)" "" "0000806708" "00000822" "30" "950" "0" "950" "0" "c.950G>A" "r.(?)" "p.(Arg317His)" "" "0000806709" "00000822" "10" "-2553" "0" "-2553" "0" "c.-2553G>T" "r.(?)" "p.(=)" "" "0000806710" "00000822" "90" "-2631" "0" "-2631" "0" "c.-2631G>C" "r.(?)" "p.(=)" "" "0000806711" "00000822" "50" "-2768" "0" "-2768" "0" "c.-2768A>T" "r.(?)" "p.(=)" "" "0000854028" "00000822" "50" "3155" "0" "3155" "0" "c.3155G>A" "r.(?)" "p.(Cys1052Tyr)" "" "0000854029" "00000822" "10" "1302" "0" "1302" "0" "c.1302A>G" "r.(?)" "p.(Arg434=)" "" "0000854030" "00000822" "10" "944" "-13" "944" "-13" "c.944-13C>G" "r.(=)" "p.(=)" "" "0000854031" "00000822" "30" "-3576" "0" "-3576" "0" "c.-3576G>C" "r.(?)" "p.(=)" "" "0000863856" "00000822" "10" "3147" "0" "3147" "0" "c.3147G>T" "r.(?)" "p.(Ser1049=)" "" "0000863857" "00000822" "50" "-14" "-2" "-14" "-2" "c.-14-2A>G" "r.spl?" "p.?" "" "0000892070" "00000822" "30" "4080" "6" "4080" "6" "c.4080+6C>T" "r.(=)" "p.(=)" "" "0000892071" "00000822" "50" "4027" "0" "4027" "0" "c.4027C>T" "r.(?)" "p.(Leu1343Phe)" "" "0000892072" "00000822" "50" "3456" "0" "3456" "0" "c.3456C>T" "r.(?)" "p.(Phe1152=)" "" "0000892073" "00000822" "50" "3367" "0" "3367" "0" "c.3367G>A" "r.(?)" "p.(Ala1123Thr)" "" "0000892074" "00000822" "50" "3210" "0" "3210" "0" "c.3210G>A" "r.(?)" "p.(Ser1070=)" "" "0000892075" "00000822" "90" "3061" "0" "3061" "0" "c.3061C>T" "r.(?)" "p.(Arg1021*)" "" "0000892076" "00000822" "90" "2895" "0" "2898" "0" "c.2895_2898del" "r.(?)" "p.(Phe966SerfsTer29)" "" "0000892077" "00000822" "50" "2654" "0" "2654" "0" "c.2654G>T" "r.(?)" "p.(Arg885Leu)" "" "0000892078" "00000822" "30" "1786" "0" "1786" "0" "c.1786C>T" "r.(?)" "p.(Pro596Ser)" "" "0000892079" "00000822" "10" "1621" "0" "1621" "0" "c.1621C>A" "r.(?)" "p.(Arg541=)" "" "0000892080" "00000822" "90" "1528" "0" "1528" "0" "c.1528del" "r.(?)" "p.(Arg510Glyfs*76)" "" "0000892081" "00000822" "30" "514" "-14" "514" "-14" "c.514-14C>G" "r.(=)" "p.(=)" "" "0000892082" "00000822" "30" "-4069" "0" "-4069" "0" "c.-4069G>A" "r.(?)" "p.(=)" "" "0000914294" "00000822" "50" "2290" "0" "2290" "0" "c.2290C>T" "r.(?)" "p.(Arg764Trp)" "" "0000925968" "00000822" "30" "1131" "8" "1131" "8" "c.1131+8T>C" "r.(=)" "p.(=)" "" "0000930382" "00000822" "50" "3367" "0" "3367" "0" "c.3367G>A" "r.(?)" "p.(Ala1123Thr)" "" "0000930383" "00000822" "50" "1316" "0" "1316" "0" "c.1316C>T" "r.(?)" "p.(Pro439Leu)" "" "0000950350" "00000822" "10" "3921" "0" "3921" "0" "c.3921C>T" "r.(?)" "p.(=)" "" "0000952347" "00000822" "50" "346" "0" "346" "0" "c.346G>A" "r.(?)" "p.(Val116Met)" "" "0000952360" "00000822" "50" "346" "0" "346" "0" "c.346G>A" "r.(?)" "p.(Val116Met)" "" "0000981234" "00000822" "30" "3759" "0" "3759" "0" "c.3759G>A" "r.(?)" "p.(Pro1253=)" "" "0000981235" "00000822" "50" "273" "0" "273" "0" "c.273C>T" "r.(?)" "p.(=)" "" "0000989629" "00000822" "90" "1709" "0" "1709" "0" "c.1709A>T" "r.(?)" "p.(Gln570Leu)" "" "0001001439" "00000822" "50" "3646" "0" "3646" "0" "c.3646C>T" "r.(?)" "p.(Arg1216Trp)" "" "0001001440" "00000822" "30" "3103" "0" "3103" "0" "c.3103G>A" "r.(?)" "p.(Val1035Met)" "" "0001026440" "00000822" "50" "1132" "-13" "1132" "-13" "c.1132-13T>A" "r.(=)" "p.(=)" "" "0001040379" "00000822" "50" "437" "0" "437" "0" "c.437G>A" "r.(?)" "p.(Gly146Glu)" "" "0001040380" "00000822" "50" "-1885" "0" "-1885" "0" "c.-1885G>A" "r.(?)" "p.(=)" "" "0001040381" "00000822" "10" "-3855" "0" "-3855" "0" "c.-3855G>A" "r.(?)" "p.(=)" "" "0001040382" "00000822" "30" "-5243" "0" "-5243" "0" "c.-5243A>G" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{variantid}}" "0000000209" "0000005453" "0000000210" "0000013402" "0000220000" "0000454877" "0000292393" "0000649082" "0000292394" "0000649083" "0000292395" "0000649084" "0000292396" "0000649085" "0000292397" "0000649086" "0000292398" "0000649087" "0000292399" "0000649088" "0000305596" "0000669284" "0000307334" "0000673953" "0000307334" "0000673954" "0000313700" "0000695600" "0000445376" "0000952347" "0000445377" "0000952360" "0000454666" "0000989629"