### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SUOX) # 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}}" "SUOX" "sulfite oxidase" "12" "q13.13" "unknown" "NG_008136.1" "UD_132119010177" "" "https://www.LOVD.nl/SUOX" "" "1" "11460" "6821" "606887" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/SUOX_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-06-06 09:12:43" "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}}" "00025710" "SUOX" "transcript variant 2" "002" "NM_001032386.1" "" "NP_001027558.1" "" "" "" "-200" "2136" "1638" "56391043" "56399309" "00006" "2022-06-06 09:09:50" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00108" "DYT" "dystonia (DYT)" "" "" "" "" "" "00054" "2013-01-24 21:46:00" "00006" "2018-04-03 21:21:00" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02089" "ISOD" "Sulfite oxidase deficiency" "AR" "272300" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SUOX" "00139" "SUOX" "02089" ## Individuals ## Do not remove or alter this header ## ## Count = 32 "{{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}}" "00081082" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected heterozygous carrier parents" "" "" "" "" "0" "" "" "" "" "00290761" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290762" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00325409" "" "" "" "1" "" "00006" "{PMID:Hong 2020:33333793}" "" "M" "" "Taiwan" "" "0" "" "" "" "Pat22" "00386068" "" "" "" "1" "" "01164" "" "" "M" "yes" "Syria" "" "0" "" "" "" "146920" "00411160" "" "" "" "1" "" "04115" "" "" "M" "no" "China" "" "" "" "" "Han" "SUOX-001" "00411167" "" "" "" "1" "" "00006" "{PMID:Kisker 1997:9428520}" "" "" "" "" "" "0" "" "" "" "Pat1" "00411168" "" "" "" "1" "" "00006" "{PMID:Kisker 1997:9428520}" "" "" "" "" "" "0" "" "" "" "Pat2" "00411169" "" "" "" "1" "" "00006" "{PMID:Kisker 1997:9428520}" "" "" "" "" "" "0" "" "" "" "Pat3" "00411173" "" "" "" "1" "" "00006" "{PMID:Kisker 1997:9428520}" "" "" "" "" "" "0" "" "" "" "Pat4" "00411174" "" "" "" "1" "" "00006" "{PMID:Garrett 1998:9600976}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "yes" "Netherlands" "" "0" "" "" "" "patient" "00411175" "" "" "" "1" "" "00006" "{PMID:Rupar 1996:9050047}, {PMID:Johnson 2002:12112661}" "" "" "" "Canada" "02y08m" "0" "" "" "" "patient" "00411176" "" "" "" "1" "" "00006" "{PMID:Seidahmed 2005:15952210}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "patient" "00411177" "" "" "" "1" "" "00006" "{PMID:Bender 2019:31127934}" "" "M" "" "Turkey" "" "0" "" "" "" "patient" "00411178" "" "" "" "1" "" "00006" "{PMID:Tan 2005:16140720}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "" "patient" "00411179" "" "" "" "1" "" "00006" "{PMID:Johnson 2002:12001203}" "" "F" "" "Netherlands" "" "0" "" "" "" "patient" "00411180" "" "" "" "1" "" "00006" "{PMID:Johnson 2002:12112661}" "" "" "" "" "" "0" "" "" "" "6130J" "00411181" "" "" "" "1" "" "00006" "{PMID:Johnson 2002:12112661}" "" "" "" "" "" "0" "" "" "" "10254A" "00411182" "" "" "" "1" "" "00006" "{PMID:Johnson 2002:12112661}" "" "" "" "" "" "0" "" "" "" "7519M" "00411183" "" "" "" "1" "" "00006" "{PMID:Johnson 2002:12112661}" "" "" "" "" "" "0" "" "" "" "6613J" "00411184" "" "" "" "1" "" "00006" "{PMID:Johnson 2002:12112661}" "" "" "" "" "" "0" "" "" "" "0897K" "00411185" "" "" "" "1" "" "00006" "{PMID:Johnson 2002:12112661}" "" "" "" "" "" "0" "" "" "" "0300K" "00411186" "" "" "" "2" "" "00006" "{PMID:Johnson 2002:12112661}" "2-generation family, 2 affected sibs" "" "" "" "" "0" "" "" "" "9007Q/9599K" "00411187" "" "" "" "1" "" "00006" "{PMID:Johnson 2002:12112661}" "" "" "" "" "" "0" "" "" "" "6919M" "00411188" "" "" "" "1" "" "00006" "{PMID:Johnson 2002:12112661}" "" "" "" "United States" "" "0" "" "" "native American" "" "00411189" "" "" "" "1" "" "00006" "{PMID:Johnson 2002:12112661}" "" "" "" "United States" "" "0" "" "" "native American" "" "00431888" "" "" "" "1" "" "01602" "" "" "F" "" "Switzerland" "00y03m" "" "" "" "Europe" "SIDS225" "00464347" "" "" "" "1" "" "04459" "" "" "" "" "" "" "" "" "" "" "" "00464348" "" "" "" "1" "" "04459" "" "" "" "" "" "" "" "" "" "" "" "00464349" "" "" "" "1" "" "04459" "" "" "" "" "" "" "" "" "" "" "" "00471369" "" "" "" "1" "" "00006" "{PMID:Zech 2020:33098801}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "" "" "0" "" "" "" "CB-DYS-167" "00472088" "" "" "" "1" "" "01164" "" "" "F" "yes" "? (unknown)" "" "0" "" "" "" "358960" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 32 "{{individualid}}" "{{diseaseid}}" "00081082" "02089" "00290761" "00198" "00290762" "00198" "00325409" "00198" "00386068" "02089" "00411160" "02089" "00411167" "02089" "00411168" "02089" "00411169" "02089" "00411173" "02089" "00411174" "02089" "00411175" "02089" "00411176" "02089" "00411177" "02089" "00411178" "02089" "00411179" "02089" "00411180" "02089" "00411181" "02089" "00411182" "02089" "00411183" "02089" "00411184" "02089" "00411185" "02089" "00411186" "02089" "00411187" "02089" "00411188" "02089" "00411189" "02089" "00431888" "02087" "00464347" "02089" "00464348" "02089" "00464349" "02089" "00471369" "00108" "00472088" "02089" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00108, 00139, 00198, 02087, 02089 ## Count = 22 "{{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}}" "0000060651" "02089" "00081082" "01758" "Familial, autosomal recessive" "" "Sulfite oxidase deficiency (OMIM:272300)" "" "" "" "" "" "" "" "" "" "" "" "0000243896" "00198" "00325409" "00006" "Familial, autosomal recessive" "" "4m-onset seizures; apnea, cyanosis, opisthotonos; severe developmental delay, hypertonia" "" "8m" "" "" "" "" "" "" "" "Leigh-like, regression" "" "0000279871" "02089" "00386068" "01164" "Familial, autosomal recessive" "01y" "Abnormality of the basal ganglia" "" "" "" "" "" "" "" "" "" "" "" "0000303250" "02089" "00411160" "04115" "Familial, autosomal recessive" "05y" "Ectopia lentis (HP: 0001083)" "?" "05y" "Ectopia lentis (HP: 0001083)" "" "" "" "" "" "ISOD" "Marfan syndrome" "" "0000303254" "02089" "00411174" "00006" "Familial, autosomal recessive" "05y" "see paper; ..., developmental delay, hypotonia; 5m-two seizures; 21m-regression" "" "" "" "" "" "" "" "" "ISOD" "sulfite oxidase deficiency" "" "0000303255" "02089" "00411176" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "ISOD" "sulfite oxidase deficiency" "" "0000303256" "02089" "00411177" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "ISOD" "sulfite oxidase deficiency" "" "0000303257" "02089" "00411178" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "ISOD" "sulfite oxidase deficiency" "" "0000303258" "02089" "00411179" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "ISOD" "sulfite oxidase deficiency" "" "0000303259" "02089" "00411180" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "ISOD" "sulfite oxidase deficiency" "" "0000303260" "02089" "00411181" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "ISOD" "sulfite oxidase deficiency" "" "0000303261" "02089" "00411182" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "ISOD" "sulfite oxidase deficiency" "" "0000303262" "02089" "00411183" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "ISOD" "sulfite oxidase deficiency" "" "0000303263" "02089" "00411184" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "ISOD" "sulfite oxidase deficiency" "" "0000303264" "02089" "00411185" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "ISOD" "sulfite oxidase deficiency" "" "0000303265" "02089" "00411186" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "ISOD" "sulfite oxidase deficiency" "" "0000303266" "02089" "00411187" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "ISOD" "sulfite oxidase deficiency" "" "0000303267" "02089" "00411188" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "ISOD" "sulfite oxidase deficiency" "" "0000303268" "02089" "00411189" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "ISOD" "sulfite oxidase deficiency" "" "0000322457" "02087" "00431888" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" "" "0000356206" "00108" "00471369" "00006" "Familial, autosomal recessive" "" "combined dystonia, coexisting non-movement disorder-related neurological symptoms; onset infancy (0-2y); generalized dystonia; no dystonic cerebral palsy" "" "" "" "" "" "" "" "" "" "dystonia" "" "0000356897" "02089" "00472088" "01164" "Familial, autosomal recessive" "00y01m" "Hypertonia, Feeding difficulties in infancy, Enlarged cisterna magna, Elevated circulating S-sulfocysteine concentration, Increased circulating lactate concentration, Intracranial cystic lesion" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 32 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081194" "00081082" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000291929" "00290761" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291930" "00290762" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000326620" "00325409" "1" "00006" "00006" "2021-01-02 12:18:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000387297" "00386068" "1" "01164" "01164" "2021-10-20 10:02:48" "" "" "SEQ-NG-I" "DNA" "" "" "0000412425" "00411160" "1" "04115" "04115" "2022-06-04 03:29:55" "" "" "SEQ-NG" "DNA" "blood" "gene panel" "0000412432" "00411167" "1" "00006" "00006" "2022-06-06 10:28:44" "" "" "SEQ" "DNA" "" "" "0000412433" "00411168" "1" "00006" "00006" "2022-06-06 10:34:48" "" "" "SEQ" "DNA" "" "" "0000412434" "00411169" "1" "00006" "00006" "2022-06-06 10:37:58" "" "" "SEQ" "DNA" "" "" "0000412438" "00411173" "1" "00006" "00006" "2022-06-06 11:01:32" "" "" "SEQ" "DNA" "" "" "0000412439" "00411174" "1" "00006" "00006" "2022-06-06 16:49:46" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000412440" "00411175" "1" "00006" "00006" "2022-06-06 17:00:02" "" "" "SEQ" "DNA" "" "" "0000412441" "00411176" "1" "00006" "00006" "2022-06-06 17:09:08" "" "" "SEQ" "DNA" "" "" "0000412442" "00411177" "1" "00006" "00006" "2022-06-06 17:19:31" "" "" "SEQ" "DNA" "" "" "0000412443" "00411178" "1" "00006" "00006" "2022-06-06 17:25:54" "" "" "SEQ" "DNA" "" "" "0000412444" "00411179" "1" "00006" "00006" "2022-06-06 17:31:49" "" "" "SEQ" "DNA" "" "" "0000412445" "00411180" "1" "00006" "00006" "2022-06-06 19:53:28" "" "" "SEQ" "DNA" "" "" "0000412446" "00411181" "1" "00006" "00006" "2022-06-06 19:53:28" "" "" "SEQ" "DNA" "" "" "0000412447" "00411182" "1" "00006" "00006" "2022-06-06 19:53:28" "" "" "SEQ" "DNA" "" "" "0000412448" "00411183" "1" "00006" "00006" "2022-06-06 19:53:28" "" "" "SEQ" "DNA" "" "" "0000412449" "00411184" "1" "00006" "00006" "2022-06-06 19:53:28" "" "" "SEQ" "DNA" "" "" "0000412450" "00411185" "1" "00006" "00006" "2022-06-06 19:53:28" "" "" "SEQ" "DNA" "" "" "0000412451" "00411186" "1" "00006" "00006" "2022-06-06 19:53:28" "" "" "SEQ" "DNA" "" "" "0000412452" "00411187" "1" "00006" "00006" "2022-06-06 19:53:28" "" "" "SEQ" "DNA" "" "" "0000412453" "00411188" "1" "00006" "00006" "2022-06-06 19:53:28" "" "" "SEQ" "DNA" "" "" "0000412454" "00411189" "1" "00006" "00006" "2022-06-06 19:53:28" "" "" "SEQ" "DNA" "" "" "0000433328" "00431888" "1" "01602" "01602" "2023-02-17 15:41:47" "" "" "SEQ-NG" "DNA" "" "" "0000465977" "00464347" "1" "04459" "04459" "2025-03-06 07:29:43" "" "" "SEQ-NG" "DNA" "" "" "0000465978" "00464348" "1" "04459" "04459" "2025-03-06 07:35:12" "" "" "SEQ-NG" "DNA" "" "" "0000465979" "00464349" "1" "04459" "04459" "2025-03-06 07:38:25" "" "" "SEQ-NG" "DNA" "" "" "0000473039" "00471369" "1" "00006" "00006" "2025-12-19 18:53:19" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000473758" "00472088" "1" "01164" "01164" "2026-01-07 14:09:25" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 27 "{{screeningid}}" "{{geneid}}" "0000081194" "SUOX" "0000326620" "SUOX" "0000387297" "SUOX" "0000412432" "SUOX" "0000412433" "SUOX" "0000412434" "SUOX" "0000412438" "SUOX" "0000412439" "SUOX" "0000412440" "SUOX" "0000412441" "SUOX" "0000412442" "SUOX" "0000412443" "SUOX" "0000412444" "SUOX" "0000412445" "SUOX" "0000412446" "SUOX" "0000412447" "SUOX" "0000412448" "SUOX" "0000412449" "SUOX" "0000412450" "SUOX" "0000412451" "SUOX" "0000412452" "SUOX" "0000412453" "SUOX" "0000412454" "SUOX" "0000465977" "SUOX" "0000465978" "SUOX" "0000465979" "SUOX" "0000473758" "SUOX" ## 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 = 65 "{{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}}" "0000130280" "3" "90" "12" "56397693" "56397693" "del" "0" "01758" "SUOX_000001" "g.56397693del" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.56003909del" "" "pathogenic" "ACMG" "0000311619" "0" "10" "12" "56398454" "56398454" "subst" "0.88527" "02325" "SUOX_000007" "g.56398454G>C" "" "" "" "SUOX(NM_000456.3):c.1281G>C (p.S427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56004670G>C" "" "benign" "" "0000313210" "0" "10" "12" "56398454" "56398454" "subst" "0.88527" "02329" "SUOX_000007" "g.56398454G>C" "" "" "" "SUOX(NM_000456.3):c.1281G>C (p.S427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56004670G>C" "" "benign" "" "0000314230" "0" "90" "12" "56398373" "56398373" "subst" "5.68639E-5" "02326" "SUOX_000006" "g.56398373C>G" "" "" "" "SUOX(NM_000456.3):c.1200C>G (p.Y400*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56004589C>G" "" "pathogenic" "" "0000315920" "0" "30" "12" "56398223" "56398223" "subst" "0.000463136" "01943" "SUOX_000005" "g.56398223T>C" "" "" "" "SUOX(NM_000456.2):c.1050T>C (p.Y350=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56004439T>C" "" "likely benign" "" "0000315921" "0" "30" "12" "56398479" "56398479" "subst" "0.000113707" "01943" "SUOX_000008" "g.56398479G>A" "" "" "" "SUOX(NM_000456.2):c.1306G>A (p.E436K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56004695G>A" "" "likely benign" "" "0000315922" "0" "30" "12" "56398531" "56398531" "subst" "0.00371288" "01943" "SUOX_000010" "g.56398531G>A" "" "" "" "SUOX(NM_000456.2):c.1358G>A (p.G453D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56004747G>A" "" "likely benign" "" "0000315923" "0" "30" "12" "56398742" "56398742" "subst" "4.06105E-6" "01943" "SUOX_000011" "g.56398742C>A" "" "" "" "SUOX(NM_000456.2):c.1569C>A (p.A523=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56004958C>A" "" "likely benign" "" "0000315924" "0" "50" "12" "56397582" "56397582" "subst" "0" "01943" "SUOX_000003" "g.56397582T>C" "" "" "" "SUOX(NM_000456.2):c.409T>C (p.W137R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56003798T>C" "" "VUS" "" "0000315925" "0" "30" "12" "56397802" "56397802" "subst" "0.00287095" "01943" "SUOX_000004" "g.56397802C>T" "" "" "" "SUOX(NM_000456.2):c.629C>T (p.P210L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56004018C>T" "" "likely benign" "" "0000322914" "0" "30" "12" "56396320" "56396320" "subst" "1.2183E-5" "01804" "SUOX_000002" "g.56396320C>T" "" "" "" "SUOX(NM_000456.2):c.51-7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56002536C>T" "" "likely benign" "" "0000548675" "0" "50" "12" "56396504" "56396504" "subst" "0.00101027" "01943" "IKZF4_000001" "g.56396504G>T" "" "" "" "SUOX(NM_000456.2):c.228G>T (p.R76S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56002720G>T" "" "VUS" "" "0000648618" "1" "70" "12" "56397823" "56397823" "subst" "2.84243E-5" "03575" "SUOX_000013" "g.56397823G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121908007}" "Germline" "" "rs121908007" "0" "" "" "g.56004039G>A" "" "likely pathogenic" "" "0000648619" "1" "50" "12" "56398531" "56398531" "subst" "0.00371288" "03575" "SUOX_000010" "g.56398531G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs76537761}" "Germline" "" "rs76537761" "0" "" "" "g.56004747G>A" "" "VUS" "" "0000657155" "0" "30" "12" "56397794" "56397794" "subst" "0.00115729" "01943" "IKZF4_000003" "g.56397794C>T" "" "" "" "SUOX(NM_000456.2):c.621C>T (p.Y207=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56004010C>T" "" "likely benign" "" "0000657156" "0" "30" "12" "56398118" "56398118" "subst" "1.62668E-5" "01943" "IKZF4_000004" "g.56398118C>T" "" "" "" "SUOX(NM_000456.2):c.945C>T (p.H315=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56004334C>T" "" "likely benign" "" "0000710205" "1" "90" "12" "56397823" "56397823" "subst" "2.84243E-5" "00006" "SUOX_000013" "g.56397823G>A" "" "{PMID:Hong 2020:33333793}" "" "" "" "Germline" "" "" "0" "" "" "g.56004039G>A" "" "pathogenic (recessive)" "" "0000710211" "2" "90" "12" "56397431" "56397431" "dup" "0" "00006" "SUOX_000014" "g.56397431dup" "" "{PMID:Hong 2020:33333793}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.56003647dup" "" "pathogenic (recessive)" "" "0000724146" "0" "30" "12" "56398497" "56398497" "subst" "5.68528E-5" "01943" "IKZF4_000005" "g.56398497G>A" "" "" "" "SUOX(NM_000456.2):c.1324G>A (p.E442K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805848" "0" "30" "12" "56396024" "56396024" "subst" "0.000101943" "01943" "SUOX_000015" "g.56396024G>A" "" "" "" "SUOX(NM_000456.2):c.19G>A (p.A7T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805849" "0" "30" "12" "56396395" "56396395" "subst" "0.000353322" "01943" "IKZF4_000006" "g.56396395G>A" "" "" "" "SUOX(NM_000456.2):c.119G>A (p.R40H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805850" "0" "30" "12" "56396497" "56396497" "subst" "8.14087E-5" "01943" "IKZF4_000007" "g.56396497G>A" "" "" "" "SUOX(NM_000456.2):c.221G>A (p.R74Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805851" "0" "50" "12" "56398500" "56398500" "subst" "0.000105581" "01943" "IKZF4_000008" "g.56398500G>T" "" "" "" "SUOX(NM_000456.2):c.1327G>T (p.V443L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000815181" "3" "70" "12" "56398270" "56398270" "subst" "1.21838E-5" "01164" "SUOX_000016" "g.56398270G>A" "" "PMID: 31127934; PMID: 28980090" "" "" "ACMG: PS4_MOD, PS3_SUP, PM2_SUP, PM3_SUP, PP3; trio-exom, parents are carrier" "Germline" "yes" "" "" "" "" "" "VCV000986985.1" "likely pathogenic (recessive)" "ACMG" "0000869754" "11" "90" "12" "56396481" "56396481" "subst" "4.06511E-6" "04115" "SUOX_000017" "g.56396481G>C" "" "" "" "g.5518G>C" "" "Germline" "" "" "0" "" "" "g.56002697G>C" "" "likely pathogenic (recessive)" "ACMG" "0000869755" "21" "90" "12" "56398373" "56398373" "subst" "5.68639E-5" "04115" "SUOX_000006" "g.56398373C>G" "" "" "" "g.7410C>G" "" "Germline" "" "" "0" "" "" "g.56004589C>G" "" "pathogenic (recessive)" "ACMG" "0000869763" "0" "90" "12" "56397823" "56397823" "subst" "2.84243E-5" "00006" "SUOX_000013" "g.56397823G>A" "" "{PMID:Kisker 1997:9428520}" "" "g479a (Arg160Gln)" "" "Germline" "" "rs121908007" "0" "" "" "g.56004039G>A" "" "pathogenic" "" "0000869764" "0" "90" "12" "56397967" "56397967" "subst" "0" "00006" "SUOX_000018" "g.56397967C>A" "" "{PMID:Kisker 1997:9428520}" "" "c623a (A208D)" "" "Germline" "" "" "0" "" "" "g.56004183C>A" "" "pathogenic" "" "0000869765" "0" "30" "12" "56398363" "56398363" "subst" "4.06091E-6" "00006" "SUOX_000019" "g.56398363G>A" "" "{PMID:Kisker 1997:9428520}" "" "g1022a (R340Q)" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000869766" "0" "90" "12" "56398453" "56398453" "subst" "0" "00006" "SUOX_000000" "g.(56398453C>G)" "" "{PMID:Kisker 1997:9428520}" "" "g1109a (S370Y)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000869770" "0" "10" "12" "56398454" "56398454" "subst" "0.00461391" "00006" "SUOX_000000" "g.56398454G>T" "" "{PMID:Kisker 1997:9428520}" "" "c1110a (S370S)" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000869771" "0" "90" "12" "56398762" "56398762" "subst" "4.06359E-6" "00006" "SUOX_000020" "g.56398762G>A" "" "{PMID:Kisker 1997:9428520}" "" "g1418a (G473D)" "" "Germline" "" "rs121908009" "0" "" "" "g.56004978G>A" "" "pathogenic" "" "0000869773" "3" "90" "12" "56397823" "56397823" "subst" "2.84243E-5" "00006" "SUOX_000013" "g.56397823G>A" "" "{PMID:Garrett 1998:9600976}" "" "G479A (R160Q)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000869774" "1" "90" "12" "56397744" "56397744" "del" "0" "00006" "SUOX_000021" "g.56397744del" "" "{PMID:Rupar 1996:9050047}" "" "571delC" "" "Germline" "" "" "0" "" "" "g.56003960del" "" "pathogenic" "" "0000869775" "3" "90" "12" "56397693" "56397693" "del" "0" "00006" "SUOX_000001" "g.56397693del" "" "{PMID:Seidahmed 2005:15952210}" "" "" "" "Germline" "" "" "0" "" "delG1244" "g.56003909del" "" "pathogenic (recessive)" "" "0000869776" "3" "90" "12" "56398257" "56398257" "subst" "2.43696E-5" "00006" "SUOX_000022" "g.56398257G>A" "" "{PMID:Bender 2019:31127934}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000869777" "3" "90" "12" "56398486" "56398489" "del" "8.12196E-6" "00006" "SUOX_000023" "g.56398486_56398489del" "" "{PMID:Tan 2005:16140720}" "" "" "" "Germline" "" "" "0" "" "" "g.56004702_56004705del" "" "pathogenic (recessive)" "" "0000869778" "3" "90" "12" "56397744" "56397747" "del" "0" "00006" "SUOX_000024" "g.56397744_56397747del" "" "{PMID:Johnson 2002:12001203}" "" "400-403delCAGC" "" "Germline" "" "" "0" "" "" ".56003960_56003963del" "" "pathogenic (recessive)" "" "0000869779" "2" "90" "12" "56397945" "56397945" "subst" "0" "00006" "SUOX_000025" "g.56397945A>C" "" "{PMID:Johnson 2002:12112661}" "" "601A>C (I201L)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000869780" "3" "90" "12" "56397907" "56397910" "del" "0" "00006" "SUOX_000027" "g.56397907_56397910del" "" "{PMID:Johnson 2002:12112661}" "" "562-565delCTTT" "" "Germline" "" "" "0" "" "" "g.56004123_56004126del" "" "pathogenic (recessive)" "" "0000869781" "1" "90" "12" "56397460" "56397460" "dup" "0" "00006" "SUOX_000026" "g.56397460dup" "" "{PMID:Johnson 2002:12112661}" "" "113-114insC" "" "Germline" "" "" "0" "" "" "g.56003676dup" "" "pathogenic (recessive)" "" "0000869782" "3" "90" "12" "56398257" "56398257" "subst" "2.43696E-5" "00006" "SUOX_000022" "g.56398257G>A" "" "{PMID:Johnson 2002:12112661}" "" "913G>A (G305S)" "" "Germline" "" "" "0" "" "" "g.56004473G>A" "" "pathogenic (recessive)" "" "0000869783" "1" "90" "12" "56398270" "56398270" "subst" "1.21838E-5" "00006" "SUOX_000016" "g.56398270G>A" "" "{PMID:Johnson 2002:12112661}" "" "926G>A (R309H)" "" "Germline" "" "" "0" "" "" "g.56004486G>A" "" "pathogenic (recessive)" "" "0000869784" "3" "90" "12" "56398309" "56398309" "subst" "4.06194E-6" "00006" "SUOX_000030" "g.56398309A>G" "" "{PMID:Johnson 2002:12112661}" "" "965A>G (K322R)" "" "Germline" "" "" "0" "" "" "g.56004525A>G" "" "pathogenic (recessive)" "" "0000869785" "3" "90" "12" "56398373" "56398373" "subst" "5.68639E-5" "00006" "SUOX_000006" "g.56398373C>G" "" "{PMID:Johnson 2002:12112661}" "" "1029C>G (Y343X)" "" "Germline" "" "" "0" "" "" "g.56004589C>G" "" "pathogenic (recessive)" "" "0000869786" "3" "90" "12" "56398434" "56398434" "subst" "0" "00006" "SUOX_000032" "g.56398434C>T" "" "{PMID:Johnson 2002:12112661}" "" "1090C>T (Q364X)" "" "Germline" "" "" "0" "" "" "g.56004650C>T" "" "pathogenic (recessive)" "" "0000869787" "3" "90" "12" "56398521" "56398521" "subst" "0" "00006" "SUOX_000033" "g.56398521T>C" "" "{PMID:Johnson 2002:12112661}" "" "1177T>C (W393R)" "" "Germline" "" "" "0" "" "" "g.56004737T>C" "" "pathogenic (recessive)" "" "0000869788" "3" "90" "12" "56398694" "56398697" "del" "0" "00006" "SUOX_000034" "g.56398694_56398697del" "" "{PMID:Johnson 2002:12112661}" "" "1347-1350delTTGT" "" "Germline" "" "" "0" "" "" "g.56004910_56004913del" "" "pathogenic (recessive)" "" "0000869789" "3" "90" "12" "56398694" "56398697" "del" "0" "00006" "SUOX_000034" "g.56398694_56398697del" "" "{PMID:Johnson 2002:12112661}" "" "1347-1350delTTGT" "" "Germline" "" "" "0" "" "" "g.56004910_56004913del" "" "pathogenic (recessive)" "" "0000869790" "2" "90" "12" "56397976" "56397976" "subst" "4.06161E-6" "00006" "SUOX_000028" "g.56397976G>A" "" "{PMID:Johnson 2002:12112661}" "" "632A>G (R211Q)" "" "Germline" "" "" "0" "" "" "g.56004192G>A" "" "pathogenic (recessive)" "" "0000869791" "2" "90" "12" "56398360" "56398360" "subst" "0" "00006" "SUOX_000031" "g.56398360A>G" "" "{PMID:Johnson 2002:12112661}" "" "1016A>G (Q339R)" "" "Germline" "" "" "0" "" "" "g.56004576A>G" "" "pathogenic (recessive)" "" "0000869792" "1" "50" "12" "56398299" "56398299" "subst" "8.12843E-6" "00006" "SUOX_000029" "g.56398299C>T" "" "{PMID:Johnson 2002:12112661}" "" "955C>T (R319C)" "variant after frame shift" "Germline" "" "" "0" "" "" "g.56004515C>T" "" "VUS" "" "0000918974" "0" "70" "12" "56398086" "56398086" "subst" "0" "01602" "SUOX_000035" "g.56398086G>A" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "likely pathogenic" "ACMG" "0000980382" "0" "50" "12" "56398510" "56398510" "subst" "0" "01804" "IKZF4_000009" "g.56398510A>C" "" "" "" "SUOX(NM_001032386.2):c.1337A>C (p.(Lys446Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001029784" "3" "90" "12" "56398373" "56398373" "subst" "5.68639E-5" "04459" "SUOX_000006" "g.56398373C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.56004589C>G" "" "pathogenic (recessive)" "" "0001029785" "11" "90" "12" "56398579" "56398594" "del" "0" "04459" "SUOX_000036" "g.56398579_56398594del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.56004795_56004810del" "" "pathogenic (recessive)" "" "0001029786" "21" "70" "12" "56398549" "56398549" "subst" "1.62497E-5" "04459" "SUOX_000037" "g.56398549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.56004765G>A" "" "likely pathogenic (recessive)" "" "0001029787" "11" "90" "12" "56398579" "56398594" "del" "0" "04459" "SUOX_000036" "g.56398579_56398594del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.56004795_56004810del" "" "pathogenic (recessive)" "" "0001029789" "21" "90" "12" "56398373" "56398373" "subst" "5.68639E-5" "04459" "SUOX_000006" "g.56398373C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.56004589C>G" "" "pathogenic (recessive)" "" "0001039351" "0" "50" "12" "56397472" "56397472" "subst" "4.47824E-5" "01804" "IKZF4_000010" "g.56397472T>G" "" "" "" "SUOX(NM_001032386.2):c.299T>G (p.(Ile100Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039352" "0" "50" "12" "56397648" "56397648" "subst" "4.06286E-5" "01804" "IKZF4_000011" "g.56397648G>A" "" "" "" "SUOX(NM_001032386.2):c.475G>A (p.(Glu159Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045468" "0" "70" "12" "56397978" "56397978" "subst" "0" "03779" "SUOX_000038" "g.56397978C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001061783" "3" "90" "12" "56398270" "56398270" "subst" "1.21838E-5" "00006" "SUOX_000016" "g.56398270G>A" "" "{PMID:Zech 2020:33098801}" "" "" "" "Germline" "" "" "0" "" "" "g.56004486G>A" "" "pathogenic (recessive)" "" "0001062638" "3" "70" "12" "56398400" "56398401" "delins" "0" "01164" "SUOX_000039" "g.56398400_56398401delinsAT" "" "PMID: 35679912" "" "" "ACMG/AMP: PVS1-strong,PM2-supporting,PM3-moderate,PP4-moderate" "Germline" "-" "" "" "" "" "g.56004616-56004617delinsAT" "" "likely pathogenic (recessive)" "ACMG" "0001065767" "0" "70" "12" "56398449" "56398453" "dup" "0" "02325" "SUOX_000012" "g.56398449_56398453dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## 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 SUOX ## Count = 65 "{{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}}" "0000130280" "00025710" "90" "520" "0" "520" "0" "c.520del" "r.(?)" "p.(Asp174Thrfs*13)" "" "0000311619" "00025710" "10" "1281" "0" "1281" "0" "c.1281G>C" "r.(?)" "p.(Ser427=)" "5" "0000313210" "00025710" "10" "1281" "0" "1281" "0" "c.1281G>C" "r.(?)" "p.(Ser427=)" "5" "0000314230" "00025710" "90" "1200" "0" "1200" "0" "c.1200C>G" "r.(?)" "p.(Tyr400Ter)" "5" "0000315920" "00025710" "30" "1050" "0" "1050" "0" "c.1050T>C" "r.(?)" "p.(Tyr350=)" "5" "0000315921" "00025710" "30" "1306" "0" "1306" "0" "c.1306G>A" "r.(?)" "p.(Glu436Lys)" "5" "0000315922" "00025710" "30" "1358" "0" "1358" "0" "c.1358G>A" "r.(?)" "p.(Gly453Asp)" "5" "0000315923" "00025710" "30" "1569" "0" "1569" "0" "c.1569C>A" "r.(?)" "p.(Ala523=)" "5" "0000315924" "00025710" "50" "409" "0" "409" "0" "c.409T>C" "r.(?)" "p.(Trp137Arg)" "5" "0000315925" "00025710" "30" "629" "0" "629" "0" "c.629C>T" "r.(?)" "p.(Pro210Leu)" "5" "0000322914" "00025710" "30" "51" "-7" "51" "-7" "c.51-7C>T" "r.(=)" "p.(=)" "3i" "0000548675" "00025710" "50" "228" "0" "228" "0" "c.228G>T" "r.(?)" "p.(Arg76Ser)" "4" "0000648618" "00025710" "70" "650" "0" "650" "0" "c.650G>A" "r.(?)" "p.(Arg217Gln)" "" "0000648619" "00025710" "50" "1358" "0" "1358" "0" "c.1358G>A" "r.(?)" "p.(Gly453Asp)" "" "0000657155" "00025710" "30" "621" "0" "621" "0" "c.621C>T" "r.(?)" "p.(Tyr207=)" "5" "0000657156" "00025710" "30" "945" "0" "945" "0" "c.945C>T" "r.(?)" "p.(His315=)" "5" "0000710205" "00025710" "90" "650" "0" "650" "0" "c.650G>A" "r.(?)" "p.(Arg217Gln)" "5" "0000710211" "00025710" "90" "258" "0" "258" "0" "c.258dup" "r.(?)" "p.(Lys87*)" "" "0000724146" "00025710" "30" "1324" "0" "1324" "0" "c.1324G>A" "r.(?)" "p.(Glu442Lys)" "5" "0000805848" "00025710" "30" "19" "0" "19" "0" "c.19G>A" "r.(?)" "p.(Ala7Thr)" "3" "0000805849" "00025710" "30" "119" "0" "119" "0" "c.119G>A" "r.(?)" "p.(Arg40His)" "4" "0000805850" "00025710" "30" "221" "0" "221" "0" "c.221G>A" "r.(?)" "p.(Arg74Gln)" "4" "0000805851" "00025710" "50" "1327" "0" "1327" "0" "c.1327G>T" "r.(?)" "p.(Val443Leu)" "5" "0000815181" "00025710" "70" "1097" "0" "1097" "0" "c.1097G>A" "r.(?)" "p.(Arg366His)" "5" "0000869754" "00025710" "90" "205" "0" "205" "0" "c.205G>C" "r.(?)" "p.(Ala69Pro)" "4" "0000869755" "00025710" "90" "1200" "0" "1200" "0" "c.1200C>G" "r.(?)" "p.(Tyr400*)" "5" "0000869763" "00025710" "90" "650" "0" "650" "0" "c.650G>A" "r.(?)" "p.(Arg217Gln)" "" "0000869764" "00025710" "90" "794" "0" "794" "0" "c.794C>A" "r.(?)" "p.(Ala265Asp)" "" "0000869765" "00025710" "30" "1190" "0" "1190" "0" "c.1190G>A" "r.(?)" "p.(Arg397Gln)" "" "0000869766" "00025710" "90" "1280" "0" "1280" "0" "c.(1280C>G)" "r.(?)" "p.(Ser427Trp)" "" "0000869770" "00025710" "10" "1281" "0" "1281" "0" "c.1281G>T" "r.(=)" "p.(Ser427=)" "" "0000869771" "00025710" "90" "1589" "0" "1589" "0" "c.1589G>A" "r.(?)" "p.(Gly530Asp)" "" "0000869773" "00025710" "90" "650" "0" "650" "0" "c.650G>A" "r.650g>a" "p.Arg217Gln" "" "0000869774" "00025710" "90" "571" "0" "571" "0" "c.571del" "r.(?)" "p.(Gln191Serfs*13)" "" "0000869775" "00025710" "90" "520" "0" "520" "0" "c.520del" "r.(?)" "p.(Asp174Thrfs*13)" "" "0000869776" "00025710" "90" "1084" "0" "1084" "0" "c.1084G>A" "r.(?)" "p.(Gly362Ser)" "" "0000869777" "00025710" "90" "1313" "0" "1316" "0" "c.1313_1316del" "r.(?)" "p.(Val438Aspfs*5)" "" "0000869778" "00025710" "90" "571" "0" "574" "0" "c.571_574del" "r.(?)" "p.(Gln191Glyfs*12)" "" "0000869779" "00025710" "90" "772" "0" "772" "0" "c.772A>C" "r.(?)" "p.(Ile258Leu)" "" "0000869780" "00025710" "90" "734" "0" "737" "0" "c.734_737del" "r.(?)" "p.(Leu245ProfsTer27)" "" "0000869781" "00025710" "90" "287" "0" "287" "0" "c.287dup" "r.(?)" "p.(Glu97Ter)" "" "0000869782" "00025710" "90" "1084" "0" "1084" "0" "c.1084G>A" "r.(?)" "p.(Gly362Ser)" "" "0000869783" "00025710" "90" "1097" "0" "1097" "0" "c.1097G>A" "r.(?)" "p.(Arg366His)" "" "0000869784" "00025710" "90" "1136" "0" "1136" "0" "c.1136A>G" "r.(?)" "p.(Lys379Arg)" "" "0000869785" "00025710" "90" "1200" "0" "1200" "0" "c.1200C>G" "r.(?)" "p.(Tyr400Ter)" "" "0000869786" "00025710" "90" "1261" "0" "1261" "0" "c.1261C>T" "r.(?)" "p.(Gln421Ter)" "" "0000869787" "00025710" "90" "1348" "0" "1348" "0" "c.1348T>C" "r.(?)" "p.(Trp450Arg)" "" "0000869788" "00025710" "90" "1521" "0" "1524" "0" "c.1521_1524del" "r.(?)" "p.(Cys508ArgfsTer109)" "" "0000869789" "00025710" "90" "1521" "0" "1524" "0" "c.1521_1524del" "r.(?)" "p.(Cys508ArgfsTer109)" "" "0000869790" "00025710" "90" "803" "0" "803" "0" "c.803G>A" "r.(?)" "p.(Arg268Gln)" "" "0000869791" "00025710" "90" "1187" "0" "1187" "0" "c.1187A>G" "r.(?)" "p.(Gln396Arg)" "" "0000869792" "00025710" "50" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "-" "" "0000918974" "00025710" "70" "913" "0" "913" "0" "c.913G>A" "r.(?)" "p.(Ala305Thr)" "" "0000980382" "00025710" "50" "1337" "0" "1337" "0" "c.1337A>C" "r.(?)" "p.(Lys446Thr)" "" "0001029784" "00025710" "90" "1200" "0" "1200" "0" "c.1200C>G" "r.(?)" "p.(Tyr400*)" "" "0001029785" "00025710" "90" "1406" "0" "1421" "0" "c.1406_1421del" "r.(?)" "p.(Thr469Serfs*20)" "" "0001029786" "00025710" "70" "1376" "0" "1376" "0" "c.1376G>A" "r.(?)" "p.(Arg459Gln)" "" "0001029787" "00025710" "90" "1406" "0" "1421" "0" "c.1406_1421del" "r.(?)" "p.(Thr469Serfs*20)" "" "0001029789" "00025710" "90" "1200" "0" "1200" "0" "c.1200C>G" "r.(?)" "p.(Tyr400*)" "" "0001039351" "00025710" "50" "299" "0" "299" "0" "c.299T>G" "r.(?)" "p.(Ile100Ser)" "" "0001039352" "00025710" "50" "475" "0" "475" "0" "c.475G>A" "r.(?)" "p.(Glu159Lys)" "" "0001045468" "00025710" "70" "805" "0" "805" "0" "c.805C>A" "r.(?)" "p.(Arg269Ser)" "" "0001061783" "00025710" "90" "1097" "0" "1097" "0" "c.1097G>A" "r.(?)" "p.(Arg366His)" "" "0001062638" "00025710" "70" "1227" "0" "1228" "0" "c.1227_1228delinsAT" "r.(?)" "p.(Trp409*)" "5" "0001065767" "00025710" "70" "1276" "0" "1280" "0" "c.1276_1280dup" "r.(?)" "p.(Ala428SerfsTer13)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 42 "{{screeningid}}" "{{variantid}}" "0000081194" "0000130280" "0000291929" "0000648618" "0000291930" "0000648619" "0000326620" "0000710205" "0000326620" "0000710211" "0000387297" "0000815181" "0000412425" "0000869754" "0000412425" "0000869755" "0000412432" "0000869763" "0000412433" "0000869764" "0000412434" "0000869765" "0000412434" "0000869766" "0000412438" "0000869770" "0000412438" "0000869771" "0000412439" "0000869773" "0000412440" "0000869774" "0000412440" "0000869779" "0000412441" "0000869775" "0000412442" "0000869776" "0000412443" "0000869777" "0000412444" "0000869778" "0000412445" "0000869780" "0000412446" "0000869781" "0000412446" "0000869790" "0000412446" "0000869792" "0000412447" "0000869782" "0000412448" "0000869783" "0000412448" "0000869791" "0000412449" "0000869784" "0000412450" "0000869785" "0000412451" "0000869786" "0000412452" "0000869787" "0000412453" "0000869788" "0000412454" "0000869789" "0000433328" "0000918974" "0000465977" "0001029784" "0000465978" "0001029785" "0000465978" "0001029786" "0000465979" "0001029787" "0000465979" "0001029789" "0000473039" "0001061783" "0000473758" "0001062638"