### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = UBA1) # 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}}" "UBA1" "ubiquitin-like modifier activating enzyme 1" "X" "p11.23" "unknown" "NG_009161.1" "UD_132118882119" "" "https://www.LOVD.nl/UBA1" "" "1" "12469" "7317" "314370" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/UBA1_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-05-08 00:00:00" "00006" "2018-04-04 08:39:17" "00000" "2021-09-17 14:40:49" ## 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}}" "00000501" "UBA1" "transcript variant 1" "002" "NM_003334.3" "" "NP_003325.2" "" "" "" "-223" "3376" "3177" "47053201" "47074527" "00000" "2012-09-13 12:24:20" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00026" "arthrogryposis" "arthrogryposis" "" "" "" "" "" "00001" "2012-08-03 16:49:36" "00006" "2019-01-04 15:23:51" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-10-24 17:14:32" "02214" "SMAX-2" "atrophy, muscular, spinal, X-linked, type 2, infantile (SMAX-2, arthrogryposis multiplex congenita, distal, X-linked)" "" "301830" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:59:30" "05869" "VEXAS" "syndrome, vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic" "SMo" "" "" "" "" "00006" "2020-10-29 18:22:45" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "UBA1" "02214" "UBA1" "05869" ## Individuals ## Do not remove or alter this header ## ## Count = 38 "{{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" "" "" "" "" "00037309" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037310" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037311" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037312" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00163650" "" "" "" "1" "" "02440" "" "Fetus, TOP 24th GW" "F" "no" "Germany" "" "0" "yes" "none" "" "" "00173414" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173415" "" "" "" "2" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173709" "" "" "" "1" "" "01395" "" "" "" "?" "" "" "0" "" "" "" "" "00228899" "" "" "" "1" "" "03243" "" "" "" "no" "Italy" "" "0" "" "" "" "" "00295064" "" "" "" "12" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305306" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00315875" "" "" "" "1" "" "00006" "{PMID:Beck 2020: 33108101}" "" "M" "" "United States" "" "0" "" "see paper" "" "Pat1" "00315876" "" "" "" "1" "" "00006" "{PMID:Beck 2020: 33108101}" "" "M" "" "United States" "61y" "0" "" "see paper" "" "Pat2" "00315877" "" "" "" "1" "" "00006" "{PMID:Beck 2020: 33108101}" "" "M" "" "United States" "76y" "0" "" "see paper" "" "Pat3" "00315878" "" "" "" "1" "" "00006" "{PMID:Beck 2020: 33108101}" "" "M" "" "United States" "64y" "0" "" "see paper" "" "Pat4" "00315879" "" "" "" "1" "" "00006" "{PMID:Beck 2020: 33108101}" "" "M" "" "United States" "60y" "0" "" "see paper" "" "Pat5" "00315880" "" "" "" "1" "" "00006" "{PMID:Beck 2020: 33108101}" "" "M" "" "United States" "67y" "0" "" "see paper" "" "Pat6" "00315881" "" "" "" "1" "" "00006" "{PMID:Beck 2020: 33108101}" "" "M" "" "" "70y" "0" "" "see paper" "" "Pat7" "00315882" "" "" "" "1" "" "00006" "{PMID:Beck 2020: 33108101}" "" "M" "" "" "73y" "0" "" "see paper" "" "Pat8" "00315883" "" "" "" "1" "" "00006" "{PMID:Beck 2020: 33108101}" "" "M" "" "" "84y" "0" "" "see paper" "" "Pat9" "00315884" "" "" "" "1" "" "00006" "{PMID:Beck 2020: 33108101}" "" "M" "" "" "" "0" "" "see paper" "" "Pat10" "00315885" "" "" "" "1" "" "00006" "{PMID:Beck 2020: 33108101}" "" "M" "" "" "" "0" "" "see paper" "" "Pat11" "00315886" "" "" "" "1" "" "00006" "{PMID:Beck 2020: 33108101}" "" "M" "" "" "61y" "0" "" "see paper" "" "Pat12" "00315887" "" "" "" "1" "" "00006" "{PMID:Beck 2020: 33108101}" "" "M" "" "" "" "0" "" "see paper" "" "Pat13" "00315888" "" "" "" "1" "" "00006" "{PMID:Beck 2020: 33108101}" "" "M" "" "" "" "0" "" "see paper" "" "Pat14" "00315889" "" "" "" "1" "" "00006" "{PMID:Beck 2020: 33108101}" "" "M" "" "" "" "0" "" "see paper" "" "Pat15" "00315890" "" "" "" "1" "" "00006" "{PMID:Beck 2020: 33108101}" "" "M" "" "" "" "0" "" "see paper" "" "Pat16" "00315891" "" "" "" "1" "" "00006" "{PMID:Beck 2020: 33108101}" "" "M" "" "" "" "0" "" "see paper" "" "Pat17" "00315892" "" "" "" "1" "" "00006" "{PMID:Beck 2020: 33108101}" "" "M" "" "" "" "0" "" "see paper" "" "Pat18" "00315893" "" "" "" "1" "" "00006" "{PMID:Beck 2020: 33108101}" "" "M" "" "" "" "0" "" "see paper" "" "Pat19" "00315894" "" "" "" "1" "" "00006" "{PMID:Beck 2020: 33108101}" "" "M" "" "" "" "0" "" "see paper" "" "Pat20" "00315895" "" "" "" "1" "" "00006" "{PMID:Beck 2020: 33108101}" "" "M" "" "" "" "0" "" "see paper" "" "Pat21" "00315896" "" "" "" "1" "" "00006" "{PMID:Beck 2020: 33108101}" "" "M" "" "" "" "0" "" "see paper" "" "Pat22" "00315897" "" "" "" "1" "" "00006" "{PMID:Beck 2020: 33108101}" "" "M" "" "" "" "0" "" "see paper" "" "Pat23" "00315898" "" "" "" "1" "" "00006" "{PMID:Beck 2020: 33108101}" "" "M" "" "" "" "0" "" "see paper" "" "Pat24" "00315899" "" "" "" "1" "" "00006" "{PMID:Beck 2020: 33108101}" "" "M" "" "" "78y" "0" "" "see paper" "" "Pat25" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 34 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00163650" "00026" "00173414" "00187" "00173415" "00187" "00173709" "02214" "00228899" "00138" "00295064" "00198" "00305306" "00198" "00315875" "00198" "00315876" "00198" "00315877" "00198" "00315878" "00198" "00315879" "00198" "00315880" "00198" "00315881" "00198" "00315882" "00198" "00315883" "00198" "00315884" "00198" "00315885" "00198" "00315886" "00198" "00315887" "00198" "00315888" "00198" "00315889" "00198" "00315890" "00198" "00315891" "00198" "00315892" "00198" "00315893" "00198" "00315894" "00198" "00315895" "00198" "00315896" "00198" "00315897" "00198" "00315898" "00198" "00315899" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00026, 00138, 00187, 00198, 01157, 02214, 05869 ## Count = 32 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{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" "" "" "" "" "" "" "" "" "" "0000128786" "00026" "00163650" "02440" "Familial, autosomal recessive" "" "Increased nuchal translucency (HP:0010880), Arthrogryposis multiplex congenita (HP:0002804), Fetal akinesia sequence (HP:0001989), Bilateral talipes equinovarus (HP:0001776), Polyhydramnios (HP:0001561), Hypertelorism (HP:0000316), Palpebral edema (HP:0100540), Micrognathia (HP:0000347)" "" "" "" "" "" "" "" "" "" "Multiple pterygium syndrome, lethal type" "Fetal akinesia deformation sequence" "" "0000138278" "00187" "00173414" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000138279" "00187" "00173415" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000138573" "02214" "00173709" "01395" "Familial, X-linked recessive" "" "" "" "" "" "?" "" "" "" "" "" "SMAX-2" "X-linked congenital spinal muscular atrophy" "" "0000172851" "00138" "00228899" "03243" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000239620" "00198" "00315875" "00006" "Isolated (sporadic)" "" "relapsing polychonsritis; Sweet syndrome; undifferentiated fever syndrome; skin involvement; pulmonary infiltrates; ear/nose chondritis; deep vein thrombosis; bone marrow vacuoles; macrocytic anemia" "45y" "" "" "" "" "" "" "" "" "VEXAS" "myelodysplastic syndrome" "" "0000239621" "00198" "00315876" "00006" "Isolated (sporadic)" "" "polyarteritis nodosa; undifferentiated fever syndrome; skin involvement; pulmonary infiltrates; deep vein thrombosis; bone marrow vacuoles; macrocytic anemia" "56y" "" "" "" "" "" "" "" "" "VEXAS" "myelodysplastic syndrome" "" "0000239622" "00198" "00315877" "00006" "Isolated (sporadic)" "" "myelodysplastic syndrome; plasma cell dsycrasia multiple myeloma or monoclonal gamapathy of undetermined significance; undifferentiated fever syndrome; skin involvement; pulmonary infiltrates; deep vein thrombosis; bone marrow vacuoles; macrocytic anemia" "71y" "" "" "" "" "" "" "" "" "VEXAS" "myelodysplastic syndrome" "" "0000239623" "00198" "00315878" "00006" "Isolated (sporadic)" "" "relapsing polychonsritis; polyarteritis nodosa; undifferentiated fever syndrome; skin involvement; pulmonary infiltrates; ear/nose chondritis; deep vein thrombosis; bone marrow vacuoles; macrocytic anemia" "55y" "" "" "" "" "" "" "" "" "VEXAS" "myelodysplastic syndrome" "" "0000239624" "00198" "00315879" "00006" "Isolated (sporadic)" "" "undifferentiated fever syndrome; skin involvement; pulmonary infiltrates; bone marrow vacuoles; macrocytic anemia" "56y" "" "" "" "" "" "" "" "" "VEXAS" "myelodysplastic syndrome" "" "0000239625" "00198" "00315880" "00006" "Isolated (sporadic)" "" "relapsing polychonsritis; Sweet syndrome; myelodysplastic syndrome; undifferentiated fever syndrome; adult-onset Still’s disease; skin involvement; pulmonary infiltrates; ear/nose chondritis; deep vein thrombosis; bone marrow vacuoles; macrocytic anemia" "56y" "" "" "" "" "" "" "" "" "VEXAS" "myelodysplastic syndrome" "" "0000239626" "00198" "00315881" "00006" "Isolated (sporadic)" "" "Sweet syndrome; skin involvement; pulmonary infiltrates; bone marrow vacuoles; macrocytic anemia" "64y" "" "" "" "" "" "" "" "" "VEXAS" "myelodysplastic syndrome" "" "0000239627" "00198" "00315882" "00006" "Isolated (sporadic)" "" "relapsing polychonsritis; undifferentiated fever syndrome; pulmonary infiltrates; ear/nose chondritis; macrocytic anemia" "63y" "" "" "" "" "" "" "" "" "VEXAS" "" "" "0000239628" "00198" "00315883" "00006" "Isolated (sporadic)" "" "polyarteritis nodosa; skin involvement; pulmonary infiltrates; bone marrow vacuoles" "80y" "" "" "" "" "" "" "" "" "VEXAS" "myelodysplastic syndrome" "" "0000239629" "00198" "00315884" "00006" "Isolated (sporadic)" "" "relapsing polychonsritis; Sweet syndrome; skin involvement; pulmonary infiltrates; ear/nose chondritis; bone marrow vacuoles; macrocytic anemia" "64y" "" "" "" "" "" "" "" "" "VEXAS" "myelodysplastic syndrome" "" "0000239630" "00198" "00315885" "00006" "Isolated (sporadic)" "" "relapsing polychonsritis; pulmonary infiltrates; ear/nose chondritis; deep vein thrombosis; bone marrow vacuoles; macrocytic anemia" "53y" "" "" "" "" "" "" "" "" "VEXAS" "myelodysplastic syndrome" "" "0000239631" "00198" "00315886" "00006" "Isolated (sporadic)" "" "undifferentiated fever syndrome; skin involvement; pulmonary infiltrates; bone marrow vacuoles; macrocytic anemia" "58y" "" "" "" "" "" "" "" "" "VEXAS" "myelodysplastic syndrome" "" "0000239632" "00198" "00315887" "00006" "Isolated (sporadic)" "" "relapsing polychonsritis; Sweet syndrome; plasma cell dsycrasia multiple myeloma or monoclonal gamapathy of undetermined significance; skin involvement; ear/nose chondritis; bone marrow vacuoles; macrocytic anemia" "64y" "" "" "" "" "" "" "" "" "VEXAS" "myelodysplastic syndrome" "" "0000239633" "00198" "00315888" "00006" "Isolated (sporadic)" "" "relapsing polychonsritis; myelodysplastic syndrome; ; skin involvement; pulmonary infiltrates; ear/nose chondritis; deep vein thrombosis; bone marrow vacuoles; macrocytic anemia" "70y" "" "" "" "" "" "" "" "" "VEXAS" "myelodysplastic syndrome" "" "0000239634" "00198" "00315889" "00006" "Isolated (sporadic)" "" "relapsing polychonsritis; plasma cell dsycrasia multiple myeloma or monoclonal gamapathy of undetermined significance; skin involvement; pulmonary infiltrates; ear/nose chondritis; deep vein thrombosis; bone marrow vacuoles; macrocytic anemia" "64y" "" "" "" "" "" "" "" "" "VEXAS" "myelodysplastic syndrome" "" "0000239635" "00198" "00315890" "00006" "Isolated (sporadic)" "" "relapsing polychonsritis; skin involvement; pulmonary infiltrates; ear/nose chondritis; deep vein thrombosis; bone marrow vacuoles; macrocytic anemia" "56y" "" "" "" "" "" "" "" "" "VEXAS" "myelodysplastic syndrome" "" "0000239636" "00198" "00315891" "00006" "Isolated (sporadic)" "" "relapsing polychonsritis; myelodysplastic syndrome; skin involvement; ear/nose chondritis; bone marrow vacuoles; macrocytic anemia" "56y" "" "" "" "" "" "" "" "" "VEXAS" "myelodysplastic syndrome" "" "0000239637" "00198" "00315892" "00006" "Isolated (sporadic)" "" "skin involvement; ear/nose chondritis; macrocytic anemia" "75y" "" "" "" "" "" "" "" "" "VEXAS" "" "" "0000239638" "00198" "00315893" "00006" "Isolated (sporadic)" "" "relapsing polychonsritis; Sweet syndrome; myelodysplastic syndrome; skin involvement; ear/nose chondritis; macrocytic anemia" "71y" "" "" "" "" "" "" "" "" "VEXAS" "myelodysplastic syndrome" "" "0000239639" "00198" "00315894" "00006" "Isolated (sporadic)" "" "relapsing polychonsritis; plasma cell dsycrasia multiple myeloma or monoclonal gamapathy of undetermined significance; skin involvement; pulmonary infiltrates; ear/nose chondritis; bone marrow vacuoles; macrocytic anemia" "67y" "" "" "" "" "" "" "" "" "VEXAS" "myelodysplastic syndrome" "" "0000239640" "00198" "00315895" "00006" "Isolated (sporadic)" "" "Sweet syndrome; undifferentiated fever syndrome; skin involvement; pulmonary infiltrates; macrocytic anemia" "51y" "" "" "" "" "" "" "" "" "VEXAS" "myelodysplastic syndrome" "" "0000239641" "00198" "00315896" "00006" "Isolated (sporadic)" "" "relapsing polychonsritis; adult-onset Still’s disease; skin involvement; ear/nose chondritis; deep vein thrombosis; macrocytic anemia" "64y" "" "" "" "" "" "" "" "" "VEXAS" "myelodysplastic syndrome" "" "0000239642" "00198" "00315897" "00006" "Isolated (sporadic)" "" "relapsing polychonsritis; plasma cell dsycrasia multiple myeloma or monoclonal gamapathy of undetermined significance; undifferentiated fever syndrome; skin involvement; ear/nose chondritis; macrocytic anemia" "68y" "" "" "" "" "" "" "" "" "VEXAS" "myelodysplastic syndrome" "" "0000239643" "00198" "00315898" "00006" "Isolated (sporadic)" "" "Sweet syndrome; undifferentiated fever syndrome; skin involvement; macrocytic anemia" "62y" "" "" "" "" "" "" "" "" "VEXAS" "myelodysplastic syndrome" "" "0000239644" "00198" "00315899" "00006" "Isolated (sporadic)" "" "myelodysplastic syndrome; giant cell arteritis; pulmonary infiltrates; deep vein thrombosis; bone marrow vacuoles; macrocytic anemia" "77y" "" "" "" "" "" "" "" "" "VEXAS" "myelodysplastic syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 38 "{{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" "" "" "0000037379" "00037309" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037380" "00037310" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037381" "00037311" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037382" "00037312" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000164515" "00163650" "1" "02440" "02440" "2018-04-03 16:54:13" "" "" "SEQ-NG-I" "DNA" "Umbilical cord" "" "0000174297" "00173414" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000174298" "00173415" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000174592" "00173709" "1" "01395" "01395" "2015-01-29 14:01:10" "" "" "SEQ" "DNA" "" "" "0000229990" "00228899" "1" "03243" "03243" "2019-03-27 15:03:38" "" "" "arraySEQ" "DNA" "" "" "0000296232" "00295064" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306435" "00305306" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000317055" "00315875" "1" "00006" "00006" "2020-10-29 19:17:18" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000317056" "00315876" "1" "00006" "00006" "2020-10-29 19:17:18" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000317057" "00315877" "1" "00006" "00006" "2020-10-29 19:17:18" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000317058" "00315878" "1" "00006" "00006" "2020-10-29 19:17:18" "" "" "SEQ" "DNA" "" "" "0000317059" "00315879" "1" "00006" "00006" "2020-10-29 19:17:18" "" "" "SEQ" "DNA" "" "" "0000317060" "00315880" "1" "00006" "00006" "2020-10-29 19:17:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000317061" "00315881" "1" "00006" "00006" "2020-10-29 19:17:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000317062" "00315882" "1" "00006" "00006" "2020-10-29 19:17:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000317063" "00315883" "1" "00006" "00006" "2020-10-29 19:17:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000317064" "00315884" "1" "00006" "00006" "2020-10-29 19:17:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000317065" "00315885" "1" "00006" "00006" "2020-10-29 19:17:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000317066" "00315886" "1" "00006" "00006" "2020-10-29 19:17:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000317067" "00315887" "1" "00006" "00006" "2020-10-29 19:17:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000317068" "00315888" "1" "00006" "00006" "2020-10-29 19:17:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000317069" "00315889" "1" "00006" "00006" "2020-10-29 19:17:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000317070" "00315890" "1" "00006" "00006" "2020-10-29 19:17:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000317071" "00315891" "1" "00006" "00006" "2020-10-29 19:17:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000317072" "00315892" "1" "00006" "00006" "2020-10-29 19:17:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000317073" "00315893" "1" "00006" "00006" "2020-10-29 19:17:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000317074" "00315894" "1" "00006" "00006" "2020-10-29 19:17:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000317075" "00315895" "1" "00006" "00006" "2020-10-29 19:17:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000317076" "00315896" "1" "00006" "00006" "2020-10-29 19:17:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000317077" "00315897" "1" "00006" "00006" "2020-10-29 19:17:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000317078" "00315898" "1" "00006" "00006" "2020-10-29 19:17:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000317079" "00315899" "1" "00006" "00006" "2020-10-29 19:17:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 48 "{{screeningid}}" "{{geneid}}" "0000037379" "UBA1" "0000037380" "UBA1" "0000037381" "UBA1" "0000037382" "UBA1" "0000164515" "CHRNA1" "0000164515" "CHRNB1" "0000164515" "CHRND" "0000164515" "CHRNE" "0000164515" "CHRNG" "0000164515" "CNTN1" "0000164515" "DOK7" "0000164515" "KLHL40" "0000164515" "MTM1" "0000164515" "MUSK" "0000164515" "NALCN" "0000164515" "RAPSN" "0000164515" "UBA1" "0000174297" "GPKOW" "0000174298" "HDX" "0000229990" "MCM2" "0000229990" "TMEM135" "0000229990" "TRAK2" "0000229990" "UBA1" "0000317055" "UBA1" "0000317056" "UBA1" "0000317057" "UBA1" "0000317058" "UBA1" "0000317059" "UBA1" "0000317060" "UBA1" "0000317061" "UBA1" "0000317062" "UBA1" "0000317063" "UBA1" "0000317064" "UBA1" "0000317065" "UBA1" "0000317066" "UBA1" "0000317067" "UBA1" "0000317068" "UBA1" "0000317069" "UBA1" "0000317070" "UBA1" "0000317071" "UBA1" "0000317072" "UBA1" "0000317073" "UBA1" "0000317074" "UBA1" "0000317075" "UBA1" "0000317076" "UBA1" "0000317077" "UBA1" "0000317078" "UBA1" "0000317079" "UBA1" ## 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 = 109 "{{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}}" "0000001888" "0" "50" "X" "47059357" "47059357" "dup" "0" "00037" "UBA1_000024" "g.47059357dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47199958dup" "" "VUS" "" "0000001889" "20" "50" "X" "47061984" "47061984" "del" "0" "00037" "UBA1_000019" "g.47061984del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47202585del" "" "VUS" "" "0000001890" "0" "50" "X" "47063162" "47063163" "dup" "0" "00037" "UBA1_000005" "g.47063162_47063163dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47203763_47203764dup" "" "VUS" "" "0000002909" "20" "50" "X" "47061981" "47061981" "del" "0" "00037" "UBA1_000025" "g.47061981del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47202582del" "" "VUS" "" "0000006689" "20" "50" "X" "47058518" "47058518" "subst" "0.000184635" "00037" "UBA1_000021" "g.47058518A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47199119A>G" "" "VUS" "" "0000006690" "20" "50" "X" "47060844" "47060844" "subst" "0.383353" "00037" "UBA1_000011" "g.47060844C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47201445C>G" "" "VUS" "" "0000006691" "20" "50" "X" "47061018" "47061018" "subst" "0.979572" "00037" "UBA1_000014" "g.47061018C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47201619C>G" "" "VUS" "" "0000006692" "20" "50" "X" "47062534" "47062534" "subst" "0.192561" "00037" "UBA1_000003" "g.47062534G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47203135G>A" "" "VUS" "" "0000006693" "20" "50" "X" "47065186" "47065186" "subst" "0" "00037" "UBA1_000006" "g.47065186G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47205787G>A" "" "VUS" "" "0000006694" "20" "50" "X" "47070955" "47070955" "subst" "0" "00037" "UBA1_000009" "g.47070955C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47211556C>T" "" "VUS" "" "0000008748" "20" "50" "X" "47058518" "47058518" "subst" "0.000184635" "00037" "UBA1_000021" "g.47058518A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47199119A>G" "" "VUS" "" "0000008749" "20" "50" "X" "47060844" "47060844" "subst" "0.383353" "00037" "UBA1_000011" "g.47060844C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47201445C>G" "" "VUS" "" "0000008750" "20" "50" "X" "47061018" "47061018" "subst" "0.979572" "00037" "UBA1_000014" "g.47061018C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47201619C>G" "" "VUS" "" "0000008751" "20" "50" "X" "47061984" "47061984" "del" "0" "00037" "UBA1_000019" "g.47061984del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47202585del" "" "VUS" "" "0000008752" "20" "50" "X" "47062534" "47062534" "subst" "0.192561" "00037" "UBA1_000003" "g.47062534G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47203135G>A" "" "VUS" "" "0000008753" "0" "50" "X" "47063163" "47063163" "dup" "0" "00037" "UBA1_000004" "g.47063163dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47203764dup" "" "VUS" "" "0000008754" "20" "50" "X" "47065186" "47065186" "subst" "0" "00037" "UBA1_000006" "g.47065186G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47205787G>A" "" "VUS" "" "0000010915" "20" "50" "X" "47061981" "47061981" "del" "0" "00037" "UBA1_000025" "g.47061981del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47202582del" "" "VUS" "" "0000014663" "20" "50" "X" "47070955" "47070955" "subst" "0" "00037" "UBA1_000009" "g.47070955C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47211556C>T" "" "VUS" "" "0000064504" "1" "10" "X" "47060844" "47060844" "subst" "0.383353" "01164" "UBA1_000011" "g.47060844C>G" "" "" "" "" "" "Germline" "" "rs4239963" "0" "" "" "g.47201445C>G" "" "benign" "" "0000064505" "1" "50" "X" "47074531" "47074531" "subst" "0" "01164" "UBA1_000027" "g.47074531C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47215132C>T" "" "VUS" "" "0000064506" "1" "10" "X" "47062534" "47062534" "subst" "0.192561" "01164" "UBA1_000003" "g.47062534G>A" "" "" "" "" "" "Germline" "" "rs2070169" "0" "" "" "g.47203135G>A" "" "benign" "" "0000064507" "1" "90" "X" "47065502" "47065502" "subst" "0" "01164" "UBA1_000026" "g.47065502C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47206103C>T" "" "pathogenic" "" "0000247755" "0" "30" "X" "47061738" "47061738" "subst" "0" "02330" "UBA1_000047" "g.47061738A>C" "" "" "" "UBA1(NM_003334.4):c.910-19A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47202339A>C" "" "likely benign" "" "0000249276" "0" "10" "X" "47057647" "47057647" "subst" "0" "02325" "UBA1_000028" "g.47057647A>G" "" "" "" "UBA1(NM_003334.4):c.1-555A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47198248A>G" "" "benign" "" "0000254606" "0" "30" "X" "47061812" "47061812" "subst" "0.000224392" "01943" "UBA1_000034" "g.47061812A>G" "" "" "" "UBA1(NM_003334.4):c.965A>G (p.K322R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47202413A>G" "" "likely benign" "" "0000273009" "0" "50" "X" "47078053" "47078053" "subst" "0.0000185951" "01943" "CDK16_000004" "g.47078053T>C" "" "" "" "CDK16(NM_033018.3):c.2T>C (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47218654T>C" "" "VUS" "" "0000311096" "0" "10" "X" "47062534" "47062534" "subst" "0.192561" "02330" "UBA1_000003" "g.47062534G>A" "" "" "" "UBA1(NM_003334.4):c.1340G>A (p.R447H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47203135G>A" "" "benign" "" "0000311097" "0" "30" "X" "47063006" "47063006" "subst" "0.000190254" "02330" "UBA1_000035" "g.47063006G>A" "" "" "" "UBA1(NM_003334.4):c.1486G>A (p.E496K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47203607G>A" "" "likely benign" "" "0000311098" "0" "30" "X" "47058482" "47058482" "subst" "0" "02330" "UBA1_000030" "g.47058482C>T" "" "" "" "UBA1(NM_003334.4):c.153C>T (p.D51=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47199083C>T" "" "likely benign" "" "0000311099" "0" "10" "X" "47065636" "47065636" "subst" "0.0215637" "02330" "UBA1_000039" "g.47065636G>C" "" "" "" "UBA1(NM_003334.4):c.1742-11G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47206237G>C" "" "benign" "" "0000311100" "0" "10" "X" "47065629" "47065629" "subst" "0.00940975" "02330" "UBA1_000038" "g.47065629G>A" "" "" "" "UBA1(NM_003334.4):c.1742-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47206230G>A" "" "benign" "" "0000311101" "0" "10" "X" "47069314" "47069314" "subst" "0.00102476" "02330" "UBA1_000041" "g.47069314C>T" "" "" "" "UBA1(NM_003334.4):c.2004-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47209915C>T" "" "benign" "" "0000311102" "0" "10" "X" "47069360" "47069360" "subst" "0" "02330" "UBA1_000042" "g.47069360G>A" "" "" "" "UBA1(NM_003334.4):c.2037G>A (p.L679=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47209961G>A" "" "benign" "" "0000311103" "0" "10" "X" "47070261" "47070261" "subst" "0.0220426" "02330" "UBA1_000043" "g.47070261G>A" "" "" "" "UBA1(NM_003334.4):c.2220G>A (p.P740=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47210862G>A" "" "benign" "" "0000311104" "0" "30" "X" "47060930" "47060930" "subst" "0.0000112079" "02330" "UBA1_000031" "g.47060930C>T" "" "" "" "UBA1(NM_003334.4):c.732C>T (p.S244=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47201531C>T" "" "likely benign" "" "0000311105" "0" "10" "X" "47061018" "47061018" "subst" "0.979572" "02330" "UBA1_000014" "g.47061018C>G" "" "" "" "UBA1(NM_003334.4):c.811+9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47201619C>G" "" "benign" "" "0000312927" "0" "10" "X" "47061018" "47061018" "subst" "0.979572" "02325" "UBA1_000014" "g.47061018C>G" "" "" "" "UBA1(NM_003334.4):c.811+9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47201619C>G" "" "benign" "" "0000319193" "0" "30" "X" "47063006" "47063006" "subst" "0.000190254" "01943" "UBA1_000035" "g.47063006G>A" "" "" "" "UBA1(NM_003334.4):c.1486G>A (p.E496K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47203607G>A" "" "likely benign" "" "0000319194" "0" "50" "X" "47065401" "47065401" "subst" "0" "01943" "UBA1_000036" "g.47065401C>T" "" "" "" "UBA1(NM_003334.4):c.1630C>T (p.R544W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47206002C>T" "" "VUS" "" "0000319195" "0" "50" "X" "47061594" "47061594" "subst" "0.00000569999" "01943" "UBA1_000032" "g.47061594C>G" "" "" "" "UBA1(NM_003334.4):c.851C>G (p.S284C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47202195C>G" "" "VUS" "" "0000319196" "0" "30" "X" "47061801" "47061801" "subst" "0.0000229104" "01943" "UBA1_000033" "g.47061801G>A" "" "" "" "UBA1(NM_003334.4):c.954G>A (p.T318=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47202402G>A" "" "likely benign" "" "0000333896" "0" "30" "X" "47065473" "47065473" "subst" "0.00771397" "01804" "UBA1_000037" "g.47065473C>G" "" "" "" "UBA1(NM_003334.3):c.1702C>G (p.(Leu568Val)), UBA1(NM_003334.4):c.1702C>G (p.L568V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47206074C>G" "" "likely benign" "" "0000367756" "0" "10" "X" "47061018" "47061018" "subst" "0.979572" "02440" "UBA1_000014" "g.47061018C>G" "0.99 controls" "" "" "" "" "Unknown" "?" "rs4239964" "0" "" "" "g.47201619C>G" "" "benign" "" "0000367757" "0" "10" "X" "47062534" "47062534" "subst" "0.192561" "02440" "UBA1_000003" "g.47062534G>A" "0.1 controls" "" "" "" "" "Unknown" "?" "rs2070169" "0" "" "" "g.47203135G>A" "" "benign" "" "0000394364" "0" "70" "X" "47065502" "47065502" "subst" "0" "01395" "UBA1_000026" "g.47065502C>T" "" "" "" "" "" "Somatic" "" "" "0" "" "" "g.47206103C>T" "" "likely pathogenic" "" "0000401330" "1" "50" "X" "47062350" "47062350" "subst" "0.000297009" "00124" "UBA1_000048" "g.47062350C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "S414S" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.47202951C>T" "" "VUS" "" "0000401331" "1" "50" "X" "47062404" "47062404" "subst" "0.000212634" "00124" "UBA1_000049" "g.47062404C>T" "2/208 cases" "{PMID:Tarpey 2009:19377476}" "" "L432L" "recurrent, found 2 times" "Germline" "" "" "0" "" "" "g.47203005C>T" "" "VUS" "" "0000471337" "0" "30" "X" "47060300" "47060300" "subst" "0" "03243" "UBA1_000050" "g.47060300T>C" "" "" "" "" "" "Germline" "-" "" "0" "" "" "g.47200901T>C" "" "VUS" "" "0000576099" "0" "30" "X" "47058637" "47058637" "subst" "0.000604142" "01943" "UBA1_000051" "g.47058637G>A" "" "" "" "UBA1(NM_003334.4):c.206G>A (p.R69Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47199238G>A" "" "likely benign" "" "0000576100" "0" "50" "X" "47060387" "47060387" "subst" "0" "01943" "UBA1_000052" "g.47060387G>A" "" "" "" "UBA1(NM_003334.4):c.575G>A (p.R192Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47200988G>A" "" "VUS" "" "0000576101" "0" "30" "X" "47060736" "47060736" "subst" "0.0000057461" "01943" "UBA1_000053" "g.47060736C>T" "" "" "" "UBA1(NM_003334.4):c.649C>T (p.L217F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47201337C>T" "" "likely benign" "" "0000576102" "0" "10" "X" "47065473" "47065473" "subst" "0.00771397" "02330" "UBA1_000037" "g.47065473C>G" "" "" "" "UBA1(NM_003334.3):c.1702C>G (p.(Leu568Val)), UBA1(NM_003334.4):c.1702C>G (p.L568V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47206074C>G" "" "benign" "" "0000576103" "0" "30" "X" "47065696" "47065696" "subst" "0.0000810382" "02330" "UBA1_000054" "g.47065696G>A" "" "" "" "UBA1(NM_003334.4):c.1791G>A (p.E597=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47206297G>A" "" "likely benign" "" "0000576104" "0" "50" "X" "47072254" "47072254" "subst" "0.0000112505" "01943" "UBA1_000055" "g.47072254C>T" "" "" "" "UBA1(NM_003334.4):c.2638C>T (p.R880W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47212855C>T" "" "VUS" "" "0000576105" "0" "50" "X" "47074321" "47074321" "subst" "0.0000112778" "02330" "UBA1_000056" "g.47074321T>G" "" "" "" "UBA1(NM_003334.4):c.3170T>G (p.I1057S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47214922T>G" "" "VUS" "" "0000619583" "0" "30" "X" "47060735" "47060735" "subst" "0.000195529" "01943" "UBA1_000057" "g.47060735A>G" "" "" "" "UBA1(NM_003334.4):c.648A>G (p.P216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47201336A>G" "" "likely benign" "" "0000619585" "0" "30" "X" "47078061" "47078061" "subst" "0" "01943" "UBA1_000059" "g.47078061G>C" "" "" "" "CDK16(NM_033018.3):c.10G>C (p.E4Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47218662G>C" "" "likely benign" "" "0000652921" "1" "10" "X" "47065473" "47065473" "subst" "0.00771397" "03575" "UBA1_000037" "g.47065473C>G" "12/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "12 heterozygous; {DB:CLININrs150574055}" "Germline" "" "rs150574055" "0" "" "" "g.47206074C>G" "" "benign" "" "0000659317" "0" "50" "X" "47060386" "47060386" "subst" "0.000058777" "01943" "UBA1_000060" "g.47060386C>T" "" "" "" "UBA1(NM_003334.4):c.574C>T (p.R192W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47200987C>T" "" "VUS" "" "0000659318" "0" "50" "X" "47060709" "47060709" "subst" "0" "02325" "UBA1_000061" "g.47060709C>T" "" "" "" "UBA1(NM_003334.4):c.622C>T (p.L208F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47201310C>T" "" "VUS" "" "0000659319" "0" "50" "X" "47061646" "47061646" "subst" "0" "01943" "UBA1_000062" "g.47061646T>G" "" "" "" "UBA1(NM_003334.4):c.903T>G (p.I301M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47202247T>G" "" "VUS" "" "0000659320" "0" "30" "X" "47062057" "47062057" "subst" "0.000123475" "01943" "UBA1_000058" "g.47062057A>C" "" "" "" "UBA1(NM_003334.4):c.1077A>C (p.V359=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47202658A>C" "" "likely benign" "" "0000659321" "0" "30" "X" "47062117" "47062117" "subst" "0.000579318" "01943" "UBA1_000063" "g.47062117C>T" "" "" "" "UBA1(NM_003334.4):c.1137C>T (p.D379=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47202718C>T" "" "likely benign" "" "0000670123" "0" "10" "X" "47065473" "47065473" "subst" "0.00771397" "03575" "UBA1_000037" "g.47065473C>G" "8/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 homozygous; {DB:CLININrs150574055}" "Germline" "" "rs150574055" "0" "" "" "g.47206074C>G" "" "benign" "" "0000682451" "0" "50" "X" "47045676" "47045676" "subst" "0" "01943" "UBA1_000064" "g.47045676C>T" "" "" "" "RBM10(NM_001204468.1):c.2752C>T (p.R918W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000682452" "0" "30" "X" "47070536" "47070536" "subst" "0.000039268" "01943" "UBA1_000065" "g.47070536G>A" "" "" "" "UBA1(NM_003334.4):c.2376G>A (p.Q792=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693600" "0" "50" "X" "47058765" "47058765" "subst" "0.000022374" "01943" "UBA1_000066" "g.47058765C>T" "" "" "" "UBA1(NM_003334.4):c.334C>T (p.L112F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693601" "0" "30" "X" "47062129" "47062129" "subst" "0.000114339" "01943" "UBA1_000067" "g.47062129C>T" "" "" "" "UBA1(NM_003334.4):c.1149C>T (p.I383=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000699240" "0" "90" "X" "47058451" "47058451" "subst" "0" "00006" "UBA1_000070" "g.47058451T>C" "" "{PMID:Beck 2020: 33108101}" "" "" "somatic mosaicism; variant absent from fibroblasts" "Somatic" "" "" "0" "" "" "g.47199052T>C" "" "pathogenic (!)" "" "0000699241" "0" "90" "X" "47058450" "47058450" "subst" "0" "00006" "UBA1_000068" "g.47058450A>G" "" "{PMID:Beck 2020: 33108101}" "" "" "somatic mosaicism; variant absent from fibroblasts" "Somatic" "" "" "0" "" "" "g.47199051A>G" "" "pathogenic (!)" "" "0000699242" "0" "90" "X" "47058451" "47058451" "subst" "0" "00006" "UBA1_000070" "g.47058451T>C" "" "{PMID:Beck 2020: 33108101}" "" "" "somatic mosaicism; variant absent from fibroblasts" "Somatic" "" "" "0" "" "" "g.47199052T>C" "" "pathogenic (!)" "" "0000699243" "0" "90" "X" "47058450" "47058450" "subst" "0" "00006" "UBA1_000068" "g.47058450A>G" "" "{PMID:Beck 2020: 33108101}" "" "" "somatic mosaicism" "Somatic" "" "" "0" "" "" "g.47199051A>G" "" "pathogenic (!)" "" "0000699244" "0" "90" "X" "47058451" "47058451" "subst" "0" "00006" "UBA1_000070" "g.47058451T>C" "" "{PMID:Beck 2020: 33108101}" "" "" "somatic mosaicism" "Somatic" "" "" "0" "" "" "g.47199052T>C" "" "pathogenic (!)" "" "0000699245" "0" "90" "X" "47058450" "47058450" "subst" "0" "00006" "UBA1_000068" "g.47058450A>G" "" "{PMID:Beck 2020: 33108101}" "" "" "somatic mosaicism" "Somatic" "" "" "0" "" "" "g.47199051A>G" "" "pathogenic (!)" "" "0000699246" "0" "90" "X" "47058450" "47058450" "subst" "0" "00006" "UBA1_000069" "g.47058450A>C" "" "{PMID:Beck 2020: 33108101}" "" "" "somatic mosaicism" "Somatic" "" "" "0" "" "" "g.47199051A>C" "" "pathogenic (!)" "" "0000699247" "0" "90" "X" "47058451" "47058451" "subst" "0" "00006" "UBA1_000070" "g.47058451T>C" "" "{PMID:Beck 2020: 33108101}" "" "" "somatic mosaicism" "Somatic" "" "" "0" "" "" "g.47199052T>C" "" "pathogenic (!)" "" "0000699248" "0" "90" "X" "47058451" "47058451" "subst" "0" "00006" "UBA1_000070" "g.47058451T>C" "" "{PMID:Beck 2020: 33108101}" "" "" "somatic mosaicism" "Somatic" "" "" "0" "" "" "g.47199052T>C" "" "pathogenic (!)" "" "0000699249" "0" "90" "X" "47058451" "47058451" "subst" "0" "00006" "UBA1_000070" "g.47058451T>C" "" "{PMID:Beck 2020: 33108101}" "" "" "somatic mosaicism" "Somatic" "" "" "0" "" "" "g.47199052T>C" "" "pathogenic (!)" "" "0000699250" "0" "90" "X" "47058451" "47058451" "subst" "0" "00006" "UBA1_000070" "g.47058451T>C" "" "{PMID:Beck 2020: 33108101}" "" "" "somatic mosaicism" "Somatic" "" "" "0" "" "" "g.47199052T>C" "" "pathogenic (!)" "" "0000699251" "0" "90" "X" "47058450" "47058450" "subst" "0" "00006" "UBA1_000068" "g.47058450A>G" "" "{PMID:Beck 2020: 33108101}" "" "" "somatic mosaicism" "Somatic" "" "" "0" "" "" "g.47199051A>G" "" "pathogenic (!)" "" "0000699252" "0" "90" "X" "47058451" "47058451" "subst" "0" "00006" "UBA1_000070" "g.47058451T>C" "" "{PMID:Beck 2020: 33108101}" "" "" "somatic mosaicism" "Somatic" "" "" "0" "" "" "g.47199052T>C" "" "pathogenic (!)" "" "0000699253" "0" "90" "X" "47058450" "47058450" "subst" "0" "00006" "UBA1_000069" "g.47058450A>C" "" "{PMID:Beck 2020: 33108101}" "" "" "somatic mosaicism" "Somatic" "" "" "0" "" "" "g.47199051A>C" "" "pathogenic (!)" "" "0000699254" "0" "90" "X" "47058450" "47058450" "subst" "0" "00006" "UBA1_000069" "g.47058450A>C" "" "{PMID:Beck 2020: 33108101}" "" "" "somatic mosaicism" "Somatic" "" "" "0" "" "" "g.47199051A>C" "" "pathogenic (!)" "" "0000699255" "0" "90" "X" "47058451" "47058451" "subst" "0" "00006" "UBA1_000070" "g.47058451T>C" "" "{PMID:Beck 2020: 33108101}" "" "" "somatic mosaicism" "Somatic" "" "" "0" "" "" "g.47199052T>C" "" "pathogenic (!)" "" "0000699256" "0" "90" "X" "47058451" "47058451" "subst" "0" "00006" "UBA1_000070" "g.47058451T>C" "" "{PMID:Beck 2020: 33108101}" "" "" "somatic mosaicism" "Somatic" "" "" "0" "" "" "g.47199052T>C" "" "pathogenic (!)" "" "0000699257" "0" "90" "X" "47058451" "47058451" "subst" "0" "00006" "UBA1_000070" "g.47058451T>C" "" "{PMID:Beck 2020: 33108101}" "" "" "somatic mosaicism" "Somatic" "" "" "0" "" "" "g.47199052T>C" "" "pathogenic (!)" "" "0000699258" "0" "90" "X" "47058450" "47058450" "subst" "0" "00006" "UBA1_000069" "g.47058450A>C" "" "{PMID:Beck 2020: 33108101}" "" "" "somatic mosaicism" "Somatic" "" "" "0" "" "" "g.47199051A>C" "" "pathogenic (!)" "" "0000699259" "0" "90" "X" "47058451" "47058451" "subst" "0" "00006" "UBA1_000070" "g.47058451T>C" "" "{PMID:Beck 2020: 33108101}" "" "" "somatic mosaicism" "Somatic" "" "" "0" "" "" "g.47199052T>C" "" "pathogenic (!)" "" "0000699260" "0" "90" "X" "47058451" "47058451" "subst" "0" "00006" "UBA1_000070" "g.47058451T>C" "" "{PMID:Beck 2020: 33108101}" "" "" "somatic mosaicism" "Somatic" "" "" "0" "" "" "g.47199052T>C" "" "pathogenic (!)" "" "0000699261" "0" "90" "X" "47058450" "47058450" "subst" "0" "00006" "UBA1_000069" "g.47058450A>C" "" "{PMID:Beck 2020: 33108101}" "" "" "somatic mosaicism" "Somatic" "" "" "0" "" "" "g.47199051A>C" "" "pathogenic (!)" "" "0000699262" "0" "90" "X" "47058451" "47058451" "subst" "0" "00006" "UBA1_000070" "g.47058451T>C" "" "{PMID:Beck 2020: 33108101}" "" "" "somatic mosaicism" "Somatic" "" "" "0" "" "" "g.47199052T>C" "" "pathogenic (!)" "" "0000699263" "0" "90" "X" "47058451" "47058451" "subst" "0" "00006" "UBA1_000070" "g.47058451T>C" "" "{PMID:Beck 2020: 33108101}" "" "" "somatic mosaicism" "Somatic" "" "" "0" "" "" "g.47199052T>C" "" "pathogenic (!)" "" "0000699264" "0" "90" "X" "47058450" "47058450" "subst" "0" "00006" "UBA1_000068" "g.47058450A>G" "" "{PMID:Beck 2020: 33108101}" "" "" "somatic mosaicism" "Somatic" "" "" "0" "" "" "g.47199051A>G" "" "pathogenic (!)" "" "0000728927" "0" "30" "X" "47045777" "47045777" "subst" "0" "01943" "UBA1_000071" "g.47045777G>A" "" "" "" "RBM10(NM_001204468.1):c.2853G>A (p.T951=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728928" "0" "90" "X" "47058450" "47058450" "subst" "0" "02327" "UBA1_000068" "g.47058450A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000728929" "0" "90" "X" "47058451" "47058451" "subst" "0" "02327" "UBA1_000070" "g.47058451T>C" "" "" "" "UBA1(NM_003334.4):c.122T>C (p.M41T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000728930" "0" "50" "X" "47061861" "47061861" "subst" "0" "01943" "UBA1_000072" "g.47061861G>C" "" "" "" "UBA1(NM_003334.4):c.1014G>C (p.Q338H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728931" "0" "30" "X" "47062350" "47062350" "subst" "0.000297009" "01943" "UBA1_000048" "g.47062350C>T" "" "" "" "UBA1(NM_003334.4):c.1242C>T (p.S414=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728932" "0" "30" "X" "47065381" "47065381" "subst" "0.0000876984" "01943" "UBA1_000073" "g.47065381G>A" "" "" "" "UBA1(NM_003334.4):c.1610G>A (p.R537H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728933" "0" "50" "X" "47069491" "47069491" "subst" "0" "01943" "UBA1_000074" "g.47069491G>A" "" "" "" "UBA1(NM_003334.4):c.2168G>A (p.R723Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728934" "0" "30" "X" "47078062" "47078062" "subst" "0" "01943" "UBA1_000075" "g.47078062A>C" "" "" "" "CDK16(NM_033018.3):c.11A>C (p.E4A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810415" "0" "90" "X" "47058450" "47058450" "subst" "0" "02325" "UBA1_000069" "g.47058450A>C" "" "" "" "UBA1(NM_003334.4):c.121A>C (p.M41L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000810416" "0" "90" "X" "47058451" "47058451" "subst" "0" "02325" "UBA1_000070" "g.47058451T>C" "" "" "" "UBA1(NM_003334.4):c.122T>C (p.M41T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000810417" "0" "90" "X" "47058451" "47058451" "subst" "0" "02326" "UBA1_000070" "g.47058451T>C" "" "" "" "UBA1(NM_003334.4):c.122T>C (p.M41T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000810418" "0" "30" "X" "47058476" "47058476" "subst" "0.00000559647" "01943" "UBA1_000076" "g.47058476C>T" "" "" "" "UBA1(NM_003334.4):c.147C>T (p.D49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810419" "0" "50" "X" "47061889" "47061889" "subst" "0" "01943" "UBA1_000077" "g.47061889C>T" "" "" "" "UBA1(NM_003334.4):c.1042C>T (p.R348W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810420" "0" "50" "X" "47063095" "47063095" "subst" "0" "01943" "UBA1_000078" "g.47063095G>A" "" "" "" "UBA1(NM_003334.4):c.1575G>A (p.T525=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810421" "0" "10" "X" "47070536" "47070536" "subst" "0.000039268" "02325" "UBA1_000065" "g.47070536G>A" "" "" "" "UBA1(NM_003334.4):c.2376G>A (p.Q792=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 UBA1 ## Count = 109 "{{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}}" "0000001888" "00000501" "50" "480" "344" "480" "344" "c.480+344dup" "r.(=)" "p.(=)" "" "0000001889" "00000501" "50" "1057" "-53" "1057" "-53" "c.1057-53del" "r.(=)" "p.(=)" "" "0000001890" "00000501" "50" "1575" "67" "1575" "68" "c.1575+67_1575+68dup" "r.(=)" "p.(=)" "" "0000002909" "00000501" "50" "1057" "-56" "1057" "-56" "c.1057-56del" "r.(=)" "p.(=)" "" "0000006689" "00000501" "50" "176" "13" "176" "13" "c.176+13A>G" "r.(=)" "p.(=)" "" "0000006690" "00000501" "50" "679" "-33" "679" "-33" "c.679-33C>G" "r.(=)" "p.(=)" "" "0000006691" "00000501" "50" "811" "9" "811" "9" "c.811+9C>G" "r.(=)" "p.(=)" "" "0000006692" "00000501" "50" "1340" "0" "1340" "0" "c.1340G>A" "r.(?)" "p.(Arg447His)" "" "0000006693" "00000501" "50" "1576" "-161" "1576" "-161" "c.1576-161G>A" "r.(=)" "p.(=)" "" "0000006694" "00000501" "50" "2464" "331" "2464" "331" "c.2464+331C>T" "r.(=)" "p.(=)" "" "0000008748" "00000501" "50" "176" "13" "176" "13" "c.176+13A>G" "r.(=)" "p.(=)" "" "0000008749" "00000501" "50" "679" "-33" "679" "-33" "c.679-33C>G" "r.(=)" "p.(=)" "" "0000008750" "00000501" "50" "811" "9" "811" "9" "c.811+9C>G" "r.(=)" "p.(=)" "" "0000008751" "00000501" "50" "1057" "-53" "1057" "-53" "c.1057-53del" "r.(=)" "p.(=)" "" "0000008752" "00000501" "50" "1340" "0" "1340" "0" "c.1340G>A" "r.(?)" "p.(Arg447His)" "" "0000008753" "00000501" "50" "1575" "68" "1575" "68" "c.1575+68dup" "r.(=)" "p.(=)" "" "0000008754" "00000501" "50" "1576" "-161" "1576" "-161" "c.1576-161G>A" "r.(=)" "p.(=)" "" "0000010915" "00000501" "50" "1057" "-56" "1057" "-56" "c.1057-56del" "r.(=)" "p.(=)" "" "0000014663" "00000501" "50" "2464" "331" "2464" "331" "c.2464+331C>T" "r.(=)" "p.(=)" "" "0000064504" "00000501" "10" "679" "-33" "679" "-33" "c.679-33C>G" "r.(=)" "p.(=)" "" "0000064505" "00000501" "50" "3380" "0" "3380" "0" "c.*203C>T" "r.spl?" "p.?" "" "0000064506" "00000501" "10" "1340" "0" "1340" "0" "c.1340G>A" "r.(?)" "p.(Arg447His)" "" "0000064507" "00000501" "90" "1731" "0" "1731" "0" "c.1731C>T" "r.(=)" "p.(=)" "" "0000247755" "00000501" "30" "910" "-19" "910" "-19" "c.910-19A>C" "r.(=)" "p.(=)" "" "0000249276" "00000501" "10" "1" "-555" "1" "-555" "c.1-555A>G" "r.(=)" "p.(=)" "" "0000254606" "00000501" "30" "965" "0" "965" "0" "c.965A>G" "r.(?)" "p.(Lys322Arg)" "" "0000273009" "00000501" "50" "6902" "0" "6902" "0" "c.*3725T>C" "r.(=)" "p.(=)" "" "0000311096" "00000501" "10" "1340" "0" "1340" "0" "c.1340G>A" "r.(?)" "p.(Arg447His)" "" "0000311097" "00000501" "30" "1486" "0" "1486" "0" "c.1486G>A" "r.(?)" "p.(Glu496Lys)" "" "0000311098" "00000501" "30" "153" "0" "153" "0" "c.153C>T" "r.(?)" "p.(Asp51=)" "" "0000311099" "00000501" "10" "1742" "-11" "1742" "-11" "c.1742-11G>C" "r.(=)" "p.(=)" "" "0000311100" "00000501" "10" "1742" "-18" "1742" "-18" "c.1742-18G>A" "r.(=)" "p.(=)" "" "0000311101" "00000501" "10" "2004" "-13" "2004" "-13" "c.2004-13C>T" "r.(=)" "p.(=)" "" "0000311102" "00000501" "10" "2037" "0" "2037" "0" "c.2037G>A" "r.(?)" "p.(Leu679=)" "" "0000311103" "00000501" "10" "2220" "0" "2220" "0" "c.2220G>A" "r.(?)" "p.(Pro740=)" "" "0000311104" "00000501" "30" "732" "0" "732" "0" "c.732C>T" "r.(?)" "p.(Ser244=)" "" "0000311105" "00000501" "10" "811" "9" "811" "9" "c.811+9C>G" "r.(=)" "p.(=)" "" "0000312927" "00000501" "10" "811" "9" "811" "9" "c.811+9C>G" "r.(=)" "p.(=)" "" "0000319193" "00000501" "30" "1486" "0" "1486" "0" "c.1486G>A" "r.(?)" "p.(Glu496Lys)" "" "0000319194" "00000501" "50" "1630" "0" "1630" "0" "c.1630C>T" "r.(?)" "p.(Arg544Trp)" "" "0000319195" "00000501" "50" "851" "0" "851" "0" "c.851C>G" "r.(?)" "p.(Ser284Cys)" "" "0000319196" "00000501" "30" "954" "0" "954" "0" "c.954G>A" "r.(?)" "p.(Thr318=)" "" "0000333896" "00000501" "30" "1702" "0" "1702" "0" "c.1702C>G" "r.(?)" "p.(Leu568Val)" "" "0000367756" "00000501" "10" "811" "9" "811" "9" "c.811+9C>G" "r.(=)" "p.(=)" "" "0000367757" "00000501" "10" "1340" "0" "1340" "0" "c.1340G>A" "r.(?)" "p.(Arg447His)" "" "0000394364" "00000501" "70" "1731" "0" "1731" "0" "c.1731C>T" "r.(=)" "p.(=)" "" "0000401330" "00000501" "50" "1242" "0" "1242" "0" "c.1242C>T" "r.(?)" "p.(=)" "13" "0000401331" "00000501" "50" "1296" "0" "1296" "0" "c.1296C>T" "r.(?)" "p.(=)" "13" "0000471337" "00000501" "30" "488" "0" "488" "0" "c.488T>C" "c.(488u>c)" "p.(Val163Ala)" "6" "0000576099" "00000501" "30" "206" "0" "206" "0" "c.206G>A" "r.(?)" "p.(Arg69Gln)" "" "0000576100" "00000501" "50" "575" "0" "575" "0" "c.575G>A" "r.(?)" "p.(Arg192Gln)" "" "0000576101" "00000501" "30" "649" "0" "649" "0" "c.649C>T" "r.(?)" "p.(Leu217Phe)" "" "0000576102" "00000501" "10" "1702" "0" "1702" "0" "c.1702C>G" "r.(?)" "p.(Leu568Val)" "" "0000576103" "00000501" "30" "1791" "0" "1791" "0" "c.1791G>A" "r.(?)" "p.(Glu597=)" "" "0000576104" "00000501" "50" "2638" "0" "2638" "0" "c.2638C>T" "r.(?)" "p.(Arg880Trp)" "" "0000576105" "00000501" "50" "3170" "0" "3170" "0" "c.3170T>G" "r.(?)" "p.(Ile1057Ser)" "" "0000619583" "00000501" "30" "648" "0" "648" "0" "c.648A>G" "r.(?)" "p.(Pro216=)" "" "0000619585" "00000501" "30" "6910" "0" "6910" "0" "c.*3733G>C" "r.(=)" "p.(=)" "" "0000652921" "00000501" "10" "1702" "0" "1702" "0" "c.1702C>G" "r.(?)" "p.(Leu568Val)" "" "0000659317" "00000501" "50" "574" "0" "574" "0" "c.574C>T" "r.(?)" "p.(Arg192Trp)" "" "0000659318" "00000501" "50" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Leu208Phe)" "" "0000659319" "00000501" "50" "903" "0" "903" "0" "c.903T>G" "r.(?)" "p.(Ile301Met)" "" "0000659320" "00000501" "30" "1077" "0" "1077" "0" "c.1077A>C" "r.(?)" "p.(Val359=)" "" "0000659321" "00000501" "30" "1137" "0" "1137" "0" "c.1137C>T" "r.(?)" "p.(Asp379=)" "" "0000670123" "00000501" "10" "1702" "0" "1702" "0" "c.1702C>G" "r.(?)" "p.(Leu568Val)" "" "0000682451" "00000501" "50" "-7748" "0" "-7748" "0" "c.-7748C>T" "r.(?)" "p.(=)" "" "0000682452" "00000501" "30" "2376" "0" "2376" "0" "c.2376G>A" "r.(?)" "p.(Gln792=)" "" "0000693600" "00000501" "50" "334" "0" "334" "0" "c.334C>T" "r.(?)" "p.(Leu112Phe)" "" "0000693601" "00000501" "30" "1149" "0" "1149" "0" "c.1149C>T" "r.(?)" "p.(Ile383=)" "" "0000699240" "00000501" "90" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Met41Thr)" "3" "0000699241" "00000501" "90" "121" "0" "121" "0" "c.121A>G" "r.(?)" "p.(Met41Val)" "3" "0000699242" "00000501" "90" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Met41Thr)" "3" "0000699243" "00000501" "90" "121" "0" "121" "0" "c.121A>G" "r.(?)" "p.(Met41Val)" "3" "0000699244" "00000501" "90" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Met41Thr)" "3" "0000699245" "00000501" "90" "121" "0" "121" "0" "c.121A>G" "r.(?)" "p.(Met41Val)" "3" "0000699246" "00000501" "90" "121" "0" "121" "0" "c.121A>C" "r.(?)" "p.(Met41Leu)" "3" "0000699247" "00000501" "90" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Met41Thr)" "3" "0000699248" "00000501" "90" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Met41Thr)" "3" "0000699249" "00000501" "90" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Met41Thr)" "3" "0000699250" "00000501" "90" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Met41Thr)" "3" "0000699251" "00000501" "90" "121" "0" "121" "0" "c.121A>G" "r.(?)" "p.(Met41Val)" "3" "0000699252" "00000501" "90" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Met41Thr)" "3" "0000699253" "00000501" "90" "121" "0" "121" "0" "c.121A>C" "r.(?)" "p.(Met41Leu)" "3" "0000699254" "00000501" "90" "121" "0" "121" "0" "c.121A>C" "r.(?)" "p.(Met41Leu)" "3" "0000699255" "00000501" "90" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Met41Thr)" "3" "0000699256" "00000501" "90" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Met41Thr)" "3" "0000699257" "00000501" "90" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Met41Thr)" "3" "0000699258" "00000501" "90" "121" "0" "121" "0" "c.121A>C" "r.(?)" "p.(Met41Leu)" "3" "0000699259" "00000501" "90" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Met41Thr)" "3" "0000699260" "00000501" "90" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Met41Thr)" "3" "0000699261" "00000501" "90" "121" "0" "121" "0" "c.121A>C" "r.(?)" "p.(Met41Leu)" "3" "0000699262" "00000501" "90" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Met41Thr)" "3" "0000699263" "00000501" "90" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Met41Thr)" "3" "0000699264" "00000501" "90" "121" "0" "121" "0" "c.121A>G" "r.(?)" "p.(Met41Val)" "3" "0000728927" "00000501" "30" "-7647" "0" "-7647" "0" "c.-7647G>A" "r.(?)" "p.(=)" "" "0000728928" "00000501" "90" "121" "0" "121" "0" "c.121A>G" "r.(?)" "p.(Met41Val)" "" "0000728929" "00000501" "90" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Met41Thr)" "" "0000728930" "00000501" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(?)" "p.(Gln338His)" "" "0000728931" "00000501" "30" "1242" "0" "1242" "0" "c.1242C>T" "r.(?)" "p.(Ser414=)" "" "0000728932" "00000501" "30" "1610" "0" "1610" "0" "c.1610G>A" "r.(?)" "p.(Arg537His)" "" "0000728933" "00000501" "50" "2168" "0" "2168" "0" "c.2168G>A" "r.(?)" "p.(Arg723Gln)" "" "0000728934" "00000501" "30" "6911" "0" "6911" "0" "c.*3734A>C" "r.(=)" "p.(=)" "" "0000810415" "00000501" "90" "121" "0" "121" "0" "c.121A>C" "r.(?)" "p.(Met41Leu)" "" "0000810416" "00000501" "90" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Met41Thr)" "" "0000810417" "00000501" "90" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Met41Thr)" "" "0000810418" "00000501" "30" "147" "0" "147" "0" "c.147C>T" "r.(?)" "p.(Asp49=)" "" "0000810419" "00000501" "50" "1042" "0" "1042" "0" "c.1042C>T" "r.(?)" "p.(Arg348Trp)" "" "0000810420" "00000501" "50" "1575" "0" "1575" "0" "c.1575G>A" "r.(?)" "p.(Thr525=)" "" "0000810421" "00000501" "10" "2376" "0" "2376" "0" "c.2376G>A" "r.(?)" "p.(Gln792=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 56 "{{screeningid}}" "{{variantid}}" "0000000209" "0000001888" "0000000209" "0000001889" "0000000209" "0000001890" "0000000209" "0000002909" "0000000209" "0000006689" "0000000209" "0000006690" "0000000209" "0000006691" "0000000209" "0000006692" "0000000209" "0000006693" "0000000209" "0000006694" "0000000210" "0000008748" "0000000210" "0000008749" "0000000210" "0000008750" "0000000210" "0000008751" "0000000210" "0000008752" "0000000210" "0000008753" "0000000210" "0000008754" "0000000210" "0000010915" "0000000210" "0000014663" "0000037379" "0000064504" "0000037380" "0000064505" "0000037381" "0000064506" "0000037382" "0000064507" "0000164515" "0000367756" "0000164515" "0000367757" "0000174297" "0000401330" "0000174298" "0000401331" "0000174592" "0000394364" "0000229990" "0000471337" "0000296232" "0000652921" "0000306435" "0000670123" "0000317055" "0000699240" "0000317056" "0000699241" "0000317057" "0000699242" "0000317058" "0000699243" "0000317059" "0000699244" "0000317060" "0000699245" "0000317061" "0000699246" "0000317062" "0000699247" "0000317063" "0000699248" "0000317064" "0000699249" "0000317065" "0000699250" "0000317066" "0000699251" "0000317067" "0000699252" "0000317068" "0000699253" "0000317069" "0000699254" "0000317070" "0000699255" "0000317071" "0000699256" "0000317072" "0000699257" "0000317073" "0000699258" "0000317074" "0000699259" "0000317075" "0000699260" "0000317076" "0000699261" "0000317077" "0000699262" "0000317078" "0000699263" "0000317079" "0000699264"