### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ETFB) # 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}}" "ETFB" "electron-transfer-flavoprotein, beta polypeptide" "19" "q13.3-q13.4" "unknown" "NG_007115.1" "UD_132118675733" "" "https://www.LOVD.nl/ETFB" "" "1" "3482" "0" "130410" "1" "1" "1" "1" "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/ETFB_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2011-04-05 00:00:00" "00006" "2018-10-11 16:21:05" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00000178" "ETFB" "electron-transfer-flavoprotein, beta polypeptide, transcript variant 1" "002" "NM_001014763.1" "" "NP_001976.1" "" "" "" "-204" "1097" "1041" "51858096" "51848409" "00002" "2012-05-11 13:12:21" "" "" "00023874" "ETFB" "transcript variant 1" "001" "NM_001985.2" "" "NP_001976.1" "" "" "" "-92" "824" "768" "51869672" "51848409" "00008" "2013-11-25 17:17:13" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00114" "GA1" "glutaricaciduria, type 1 (GA-1)" "AR" "231670" "" "autosomal recessive" "" "00008" "2013-03-06 12:48:45" "00006" "2021-12-10 21:51:32" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "01617" "ABL" "abetalipoproteinaemia (ABL)" "AR" "200100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01816" "MADD" "acyl-CoA dehydrogenation deficiency, multiple (MADD)" "AR" "231680" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02554" "metabolic syndrome" "metabolic syndrome" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-01-15 15:48:08" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" "05427" "ADPKD" "kidney, polycystic, disease, autosomal dominant (ADPKD)" "" "" "" "" "" "00006" "2018-05-08 22:37:08" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ETFB" "01816" ## Individuals ## Do not remove or alter this header ## ## Count = 73 "{{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}}" "00000004" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000005" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000008" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000009" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000010" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000012" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000014" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000015" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000020" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000021" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000022" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000024" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000025" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000026" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000027" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000031" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000033" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000034" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000035" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000036" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000037" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000039" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000041" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000042" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000044" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "Coriell sample" "" "" "" "" "0" "" "" "" "" "00000047" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000048" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000049" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000050" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000051" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000052" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000053" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "JPT/HAN‐HapMap sample" "F" "" "" "" "0" "" "" "" "" "00000054" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000055" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000056" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000057" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000061" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000062" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000063" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000064" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000065" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000067" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000068" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000069" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000070" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000071" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000072" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000073" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000075" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000077" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000078" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000081" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000082" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000083" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000085" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000086" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000087" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000088" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000089" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000092" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000094" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "Coriell sample" "" "" "" "" "0" "" "" "" "" "00000096" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000097" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000099" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000100" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000101" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00035694" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035695" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00181017" "" "" "" "1" "" "02568" "" "" "" "" "" "" "0" "" "" "" "" "00183401" "" "" "" "1" "" "02947" "{PMID:Giugliano 2018:30373198}" "" "F" "" "Italy" "" "0" "" "" "" "Patient XIII" "00292191" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00414704" "" "" "" "1" "" "00000" "{PMID:Bell 2011:21228398}" "" "?" "" "" "" "0" "" "" "" "NA01210" "00453616" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat32" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 21 "{{individualid}}" "{{diseaseid}}" "00000012" "00138" "00000012" "05378" "00000014" "00138" "00000014" "05378" "00000015" "00138" "00000015" "05378" "00000021" "05378" "00000022" "05378" "00000024" "05378" "00000025" "05378" "00000039" "05427" "00000044" "00114" "00000054" "01617" "00000094" "00114" "00000101" "04214" "00035694" "00198" "00181017" "01816" "00183401" "00244" "00292191" "00198" "00414704" "04214" "00453616" "02554" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00114, 00138, 00198, 00244, 01617, 01816, 02554, 04214, 05378, 05427 ## Count = 8 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Biochem_param}}" "{{Phenotype/enzyme_act}}" "{{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}}" "0000015274" "00187" "00000004" "00124" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154673" "01617" "00000054" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000156223" "00198" "00035694" "01164" "Unknown" "" "suspected Lipidspeichermyopathie with loss of carnitine, Paraparese der Beine, severe leukoencephalopathy, generalisierte sensomotorische demyelinisierende PNP" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000171331" "00244" "00183401" "00006" "Unknown" "" "onset adult, difficulty walking, muscle weakness lower limbs, elevated CPK (6x), respiratory function 1.24 (4330mL), atrial septum defect" "" "" "" "" "difficulty walking" "" "" "" "" "" "" "myopathy" "" "0000173125" "01816" "00181017" "02568" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "MADD;GA-2B" "multiple acyl-CoA dehydrogenation deficiency" "" "0000278359" "04214" "00000101" "00000" "Familial, autosomal dominant" "64y" "diffuse retinal, retinal pigment epithelium, and choroidal atrophy without evidence for choroidal neovascularization" "" "" "55y" "" "" "" "" "" "" "" "" "Sorsby fundus dystrophy" "" "0000306499" "04214" "00414704" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "galactosemia" "" "" "0000342273" "02554" "00453616" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "12y" "" "" "" "" "" "" "" "MADD" "inborn error of metabolism" "" ## Screenings ## Do not remove or alter this header ## ## Count = 73 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000004" "00000004" "1" "00004" "" "2012-05-11 13:18:36" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000005" "00000005" "1" "00004" "" "2012-05-11 13:18:37" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000008" "00000008" "1" "00004" "" "2012-05-11 13:18:37" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000009" "00000009" "1" "00004" "" "2012-05-11 13:18:37" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000010" "00000010" "1" "00004" "" "2012-05-11 13:18:38" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000012" "00000012" "1" "00004" "" "2012-05-11 13:18:38" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000014" "00000014" "1" "00004" "" "2012-05-11 13:18:39" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000015" "00000015" "1" "00004" "" "2012-05-11 13:18:39" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000020" "00000020" "1" "00004" "" "2012-05-11 13:18:40" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000021" "00000021" "1" "00004" "" "2012-05-11 13:18:41" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000022" "00000022" "1" "00004" "" "2012-05-11 13:18:41" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000024" "00000024" "1" "00004" "" "2012-05-11 13:18:41" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000025" "00000025" "1" "00004" "" "2012-05-11 13:18:41" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000026" "00000026" "1" "00004" "" "2012-05-11 13:18:42" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000027" "00000027" "1" "00004" "" "2012-05-11 13:18:42" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000031" "00000031" "1" "00004" "" "2012-05-11 13:18:43" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000033" "00000033" "1" "00004" "" "2012-05-11 13:18:43" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000034" "00000034" "1" "00004" "" "2012-05-11 13:18:44" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000035" "00000035" "1" "00004" "" "2012-05-11 13:18:44" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000036" "00000036" "1" "00004" "" "2012-05-11 13:18:44" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000037" "00000037" "1" "00004" "" "2012-05-11 13:18:44" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000039" "00000039" "1" "00004" "" "2012-05-11 13:18:46" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000041" "00000041" "1" "00004" "" "2012-05-11 13:18:46" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000042" "00000042" "1" "00004" "" "2012-05-11 13:18:46" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000044" "00000044" "1" "00004" "" "2012-05-11 13:18:47" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000047" "00000047" "1" "00004" "" "2012-05-11 13:18:48" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000048" "00000048" "1" "00004" "" "2012-05-11 13:18:48" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000049" "00000049" "1" "00004" "" "2012-05-11 13:18:49" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000050" "00000050" "1" "00004" "" "2012-05-11 13:18:49" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000051" "00000051" "1" "00004" "" "2012-05-11 13:18:50" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000052" "00000052" "1" "00004" "" "2012-05-11 13:18:50" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000053" "00000053" "1" "00004" "" "2012-05-11 13:18:50" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000054" "00000054" "1" "00004" "" "2012-05-11 13:18:51" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000055" "00000055" "1" "00004" "" "2012-05-11 13:18:51" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000056" "00000056" "1" "00004" "" "2012-05-11 13:18:52" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000057" "00000057" "1" "00004" "" "2012-05-11 13:18:52" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000061" "00000061" "1" "00004" "" "2012-05-11 13:18:54" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000062" "00000062" "1" "00004" "" "2012-05-11 13:18:54" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000063" "00000063" "1" "00004" "" "2012-05-11 13:18:54" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000064" "00000064" "1" "00004" "" "2012-05-11 13:18:55" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000065" "00000065" "1" "00004" "" "2012-05-11 13:18:56" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000067" "00000067" "1" "00004" "" "2012-05-11 13:18:57" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000068" 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"0000000075" "GAA" "0000000075" "HESX1" "0000000075" "IGHMBP2" "0000000075" "LAMA2" "0000000075" "MEFV" "0000000075" "NPHP4" "0000000075" "SERPINA1" "0000000077" "AGXT" "0000000077" "ATP7B" "0000000077" "ETFB" "0000000077" "GLB1" "0000000077" "MYO5A" "0000000077" "NPHS1" "0000000077" "SERPINA1" "0000000077" "SLC26A2" "0000000077" "USH2A" "0000000078" "ATP7B" "0000000078" "CDH23" "0000000078" "CFTR" "0000000078" "ETFB" "0000000078" "GLB1" "0000000078" "IGHMBP2" "0000000078" "NPHS1" "0000000078" "PMM2" "0000000078" "POLG" "0000000078" "RAG1" "0000000078" "SERPINA1" "0000000078" "SLC26A2" "0000000081" "ADAMTS13" "0000000081" "ATP7B" "0000000081" "CDH23" "0000000081" "ETFB" "0000000081" "FKTN" "0000000081" "GLB1" "0000000081" "HEXB" "0000000081" "NPHS1" "0000000081" "SERPINA1" "0000000081" "SMPD1" "0000000082" "ATP7B" "0000000082" "CPT1A" "0000000082" "CYP21A2" "0000000082" "ETFB" "0000000082" "FAH" "0000000082" "GLB1" "0000000082" "MCOLN1" "0000000082" "MYO5A" "0000000082" "NHLRC1" "0000000082" "NPC2" "0000000083" "ASPA" "0000000083" "ATP7B" "0000000083" "CPT1A" "0000000083" "CYP27A1" "0000000083" "ETFB" "0000000083" "GAA" "0000000083" "NPHS1" "0000000083" "SERPINA1" "0000000085" "ADA" "0000000085" "ATP7B" "0000000085" "ETFB" "0000000085" "FGG" "0000000085" "FKTN" "0000000085" "HEXB" "0000000085" "IGHMBP2" "0000000085" "MYO5A" "0000000085" "NHLRC1" "0000000085" "PKHD1" "0000000085" "POLG" "0000000085" "SERPINA1" "0000000085" "SGSH" "0000000086" "ARSB" "0000000086" "ATP7B" "0000000086" "BTD" "0000000086" "ETFB" "0000000086" "GLB1" "0000000086" "HEXB" "0000000086" "HPRT1" "0000000086" "IGHMBP2" "0000000086" "NHLRC1" "0000000086" "POLG" "0000000086" "SERPINA1" "0000000086" "SLC26A2" "0000000087" "AHI1" "0000000087" "ATP7B" "0000000087" "BTD" "0000000087" "CYP21A2" "0000000087" "ETFB" "0000000087" "FRAS1" "0000000087" "GLB1" "0000000087" "IGHMBP2" "0000000087" "NHLRC1" "0000000087" "SERPINA1" "0000000087" "SLC26A2" "0000000088" "ATP7B" "0000000088" "CFTR" "0000000088" "ETFB" "0000000088" "FKRP" "0000000088" "GALC" "0000000088" "GLB1" "0000000088" "HEXB" "0000000088" "IGHMBP2" "0000000088" "NHLRC1" "0000000088" "NPHS1" "0000000088" "POLG" "0000000088" "SBDS" "0000000088" "SERPINA1" "0000000089" "ATP7B" "0000000089" "BTD" "0000000089" "CFTR" "0000000089" "ETFB" "0000000089" "GALC" "0000000089" "GLB1" "0000000089" "IGHMBP2" "0000000089" "SMPD1" "0000000092" "ATP8B1" "0000000092" "ETFB" "0000000092" "GLB1" "0000000092" "IGHMBP2" "0000000092" "LAMA2" "0000000092" "MYO5A" "0000000092" "NPHS1" "0000000092" "SMPD1" "0000000094" "AHI1" "0000000094" "ARSB" "0000000094" "ATP7B" "0000000094" "BTD" "0000000094" "ENPP1" "0000000094" "ETFB" "0000000094" "GCDH" "0000000094" "GLB1" "0000000094" "INVS" "0000000094" "MYO5A" "0000000094" "NPHS1" "0000000094" "SERPINA1" "0000000094" "SMPD1" "0000000096" "AHI1" "0000000096" "ATP7B" "0000000096" "BTD" "0000000096" "COQ2" "0000000096" "ETFB" "0000000096" "GLB1" "0000000096" "HEXB" "0000000096" "NHLRC1" "0000000096" "SERPINA1" "0000000096" "USH1C" "0000000097" "ETFB" "0000000097" "FKTN" "0000000097" "GLB1" "0000000097" "PAH" "0000000097" "SERPINA1" "0000000099" "ARSB" "0000000099" "ATP7B" "0000000099" "ETFB" "0000000099" "HESX1" "0000000099" "HGSNAT" "0000000099" "LAMA2" "0000000099" "NHLRC1" "0000000099" "SERPINA1" "0000000099" "SLC26A2" "0000000099" "TMEM216" "0000000100" "ADAMTS13" "0000000100" "ATP7B" "0000000100" "CFTR" "0000000100" "ETFB" "0000000100" "HADHA" "0000000100" "HESX1" "0000000100" "HGSNAT" "0000000100" "LAMA2" "0000000100" "NHLRC1" "0000000100" "NPHS1" "0000000100" "PKHD1" "0000000100" "SERPINA1" "0000000101" "ATP7B" "0000000101" "ETFB" "0000000101" "GLB1" "0000000101" "NPHS1" "0000000101" "SERPINA1" "0000035764" "ETFB" "0000035765" "ETFB" "0000181965" "ETFB" "0000415985" "GALT" ## 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 = 94 "{{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}}" "0000000686" "3" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000687" "0" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000688" "0" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000689" "0" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000690" "0" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000692" "0" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000693" "0" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000694" "0" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000695" "0" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000696" "0" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000697" "3" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000698" "3" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000699" "0" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000700" "3" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000701" "3" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000702" "0" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000703" "0" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000704" "3" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000705" "3" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000706" "3" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000707" "3" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000708" "0" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000709" "3" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000710" "0" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000712" "0" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000713" "3" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000714" "3" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000715" "3" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000716" "3" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000717" "0" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000718" "0" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000719" "0" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000720" "3" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000721" "0" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000722" "3" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000723" "0" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000724" "3" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000725" "0" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000726" "0" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000727" "0" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000728" "0" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000729" "3" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000730" "0" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000731" "0" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000732" "0" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000733" "3" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000734" "0" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000735" "3" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000736" "0" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000737" "3" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000738" "0" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000739" "3" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000740" "3" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000741" "0" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000742" "3" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000743" "3" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000744" "0" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000745" "0" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000746" "0" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000747" "0" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000748" "0" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000749" "0" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000750" "3" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000751" "3" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000752" "0" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000000753" "0" "50" "19" "51850290" "51850290" "subst" "0.485197" "00002" "ETFB_000001" "g.51850290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51347036G>A" "" "VUS" "" "0000062889" "1" "50" "19" "51853706" "51853706" "subst" "0" "01164" "ETFB_000002" "g.51853706C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51350452C>A" "" "VUS" "" "0000062890" "1" "50" "19" "51857738" "51857738" "subst" "0.073358" "01164" "ETFB_000003" "g.51857738G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51354484G>A" "" "VUS" "" "0000267899" "0" "10" "19" "51850290" "51850290" "subst" "0.485197" "02325" "ETFB_000001" "g.51850290G>A" "" "" "" "ETFB(NM_001014763.1):c.734C>T (p.T245M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51347036G>A" "" "benign" "" "0000271252" "0" "10" "19" "51857774" "51857774" "subst" "0.00248142" "02326" "ETFB_000007" "g.51857774T>G" "" "" "" "ETFB(NM_001014763.1):c.119A>C (p.E40A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51354520T>G" "" "benign" "" "0000276420" "0" "30" "19" "51857774" "51857774" "subst" "0.00248142" "01943" "ETFB_000007" "g.51857774T>G" "" "" "" "ETFB(NM_001014763.1):c.119A>C (p.E40A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51354520T>G" "" "likely benign" "" "0000276421" "0" "50" "19" "51857615" "51857615" "subst" "4.80605E-5" "01943" "ETFB_000006" "g.51857615G>A" "" "" "" "ETFB(NM_001014763.1):c.278C>T (p.P93L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51354361G>A" "" "VUS" "" "0000319756" "0" "50" "19" "51843858" "51843858" "subst" "0.000694335" "01943" "VSIG10L_000001" "g.51843858C>A" "" "" "" "VSIG10L(NM_001163922.2):c.1018G>T (p.G340*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51340604C>A" "" "VUS" "" "0000326753" "0" "50" "19" "51848527" "51848527" "subst" "5.27966E-5" "01804" "ETFB_000004" "g.51848527C>T" "" "" "" "ETFB(NM_001014763.1):c.979G>A (p.(Gly327Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51345273C>T" "" "VUS" "" "0000326754" "0" "50" "19" "51871284" "51871284" "subst" "0.000459422" "01804" "CLDND2_000001" "g.51871284G>A" "" "" "" "CLDND2(NM_152353.2):c.170-4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51368030G>A" "" "VUS" "" "0000405753" "11" "70" "19" "51857475" "51857475" "subst" "0" "02568" "ETFB_000009" "g.51857475C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51354221C>G" "" "likely pathogenic" "" "0000405754" "21" "70" "19" "51856418" "51856420" "del" "0" "02568" "ETFB_000008" "g.51856418_51856420del" "" "" "" "343_345delGAG" "" "Germline" "" "" "0" "" "" "g.51353164_51353166del" "" "likely pathogenic" "" "0000408414" "0" "70" "19" "51857476" "51871484" "del" "0" "02947" "ETFB_000010" "g.(51856545_51857476)_(51871484_51880000)del" "" "{PMID:Giugliano 2018:30373198}" "" "g.51857476_51871484del" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000568285" "0" "30" "19" "51848524" "51848524" "subst" "0.000207122" "01943" "ETFB_000011" "g.51848524C>T" "" "" "" "ETFB(NM_001014763.1):c.982G>A (p.V328I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51345270C>T" "" "likely benign" "" "0000568286" "0" "30" "19" "51856483" "51856483" "subst" "0.000260311" "01943" "ETFB_000012" "g.51856483G>A" "" "" "" "ETFB(NM_001014763.1):c.551C>T (p.P184L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51353229G>A" "" "likely benign" "" "0000568287" "0" "30" "19" "51857619" "51857619" "dup" "0" "01804" "ETFB_000013" "g.51857619dup" "" "" "" "ETFB(NM_001014763.1):c.278dup (p.(Pro94ThrfsTer8)), ETFB(NM_001014763.1):c.278dupC (p.P94Tfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51354365dup" "" "likely benign" "" "0000568288" "0" "10" "19" "51857619" "51857619" "dup" "0" "02325" "ETFB_000013" "g.51857619dup" "" "" "" "ETFB(NM_001014763.1):c.278dup (p.(Pro94ThrfsTer8)), ETFB(NM_001014763.1):c.278dupC (p.P94Tfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51354365dup" "" "benign" "" "0000650048" "1" "50" "19" "51850174" "51850174" "subst" "0.000209483" "03575" "ETFB_000015" "g.51850174C>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs200186078}" "Germline" "" "rs200186078" "0" "" "" "g.51346920C>T" "" "VUS" "" "0000681500" "0" "50" "19" "51856469" "51856469" "subst" "0.00146314" "01943" "ETFB_000016" "g.51856469G>A" "" "" "" "ETFB(NM_001014763.1):c.565C>T (p.R189C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692877" "0" "50" "19" "51856505" "51856505" "subst" "0" "02325" "ETFB_000017" "g.51856505C>T" "" "" "" "ETFB(NM_001985.3):c.256G>A (p.G86S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866256" "0" "50" "19" "51857502" "51857502" "subst" "3.6561E-5" "01804" "ETFB_000018" "g.51857502G>T" "" "" "" "ETFB(NM_001014763.1):c.391C>A (p.(Pro131Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000873902" "0" "10" "19" "51850290" "51850290" "subst" "0.485197" "00000" "ETFB_000001" "g.51850290G>A" "" "{PMID:Bell 2011:21228398}" "" "ETFB 19:56542102 (hg18) het CM940379 67.3%" "non-causative, heterozygous" "Germline" "?" "" "0" "" "" "g.51347036G>A" "" "benign" "" "0000895112" "0" "70" "19" "51848627" "51848629" "del" "0" "02325" "ETFB_000019" "g.51848627_51848629del" "" "" "" "ETFB(NM_001985.3):c.614_616delAGA (p.K205del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000895113" "0" "50" "19" "51857643" "51857643" "subst" "1.63432E-5" "02329" "ETFB_000020" "g.51857643G>C" "" "" "" "ETFB(NM_001014763.1):c.250C>G (p.P84A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895114" "0" "50" "19" "51857703" "51857703" "subst" "8.19538E-6" "02329" "ETFB_000021" "g.51857703C>G" "" "" "" "ETFB(NM_001014763.1):c.190G>C (p.E64Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983633" "0" "30" "19" "51870712" "51870712" "subst" "0.00289194" "01804" "ETFB_000022" "g.51870712C>T" "" "" "" "CLDND2(NM_152353.3):c.429G>A (p.(Ala143=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001007261" "1" "70" "19" "51857475" "51857475" "subst" "0" "00006" "ETFB_000009" "g.51857475C>G" "" "{PMID:Navarrete 2019:30626930}" "" "NM_001985.2:c.145G>C" "" "Germline" "" "" "0" "" "" "g.51354221C>G" "" "likely pathogenic" "" "0001007383" "2" "70" "19" "51856418" "51856420" "del" "0" "00006" "ETFB_000008" "g.51856418_51856420del" "" "{PMID:Navarrete 2019:30626930}" "" "NM_001985.2:c.343_345del" "" "Germline" "" "rs777551226" "0" "" "" "g.51353164_51353166del" "" "likely pathogenic" "" "0001043149" "0" "50" "19" "51857529" "51857529" "subst" "0" "01804" "ETFB_000023" "g.51857529T>C" "" "" "" "ETFB(NM_001985.3):c.91A>G (p.(Thr31Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes ETFB ## Count = 182 "{{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}}" "0000000686" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000686" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000687" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000687" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000688" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000688" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000689" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000689" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000690" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000690" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000692" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000692" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000693" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000693" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000694" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000694" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000695" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000695" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000696" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000696" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000697" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000697" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000698" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000698" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000699" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000699" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000700" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000700" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000701" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000701" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000702" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000702" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000703" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000703" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000704" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000704" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000705" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000705" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000706" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000706" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000707" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000707" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000708" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000708" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000709" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000709" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000710" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000710" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000712" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000712" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000713" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000713" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000714" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000714" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000715" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000715" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000716" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000716" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000717" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000717" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000718" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000718" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000719" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000719" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000720" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000720" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000721" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000721" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000722" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000722" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000723" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000723" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000724" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000724" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000725" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000725" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000726" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000726" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000727" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000727" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000728" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000728" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000729" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000729" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000730" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000730" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000731" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000731" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000732" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000732" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000733" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000733" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000734" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000734" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000735" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000735" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000736" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000736" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000737" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000737" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000738" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000738" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000739" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000739" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000740" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000740" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000741" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000741" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000742" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000742" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000743" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000743" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000744" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000744" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000745" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000745" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000746" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000746" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000747" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000747" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000748" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000748" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000749" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000749" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000750" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000750" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000751" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000751" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000752" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000752" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000000753" "00023874" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000000753" "00000178" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000062889" "00023874" "50" "376" "-61" "376" "-61" "c.376-61G>T" "r.(=)" "p.(=)" "" "0000062890" "00023874" "50" "58" "-176" "58" "-176" "c.58-176C>T" "r.(=)" "p.(=)" "" "0000267899" "00023874" "10" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000267899" "00000178" "10" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000271252" "00023874" "10" "58" "-212" "58" "-212" "c.58-212A>C" "r.(=)" "p.(=)" "" "0000271252" "00000178" "10" "119" "0" "119" "0" "c.119A>C" "r.(?)" "p.(Glu40Ala)" "" "0000276420" "00023874" "30" "58" "-212" "58" "-212" "c.58-212A>C" "r.(=)" "p.(=)" "" "0000276420" "00000178" "30" "119" "0" "119" "0" "c.119A>C" "r.(?)" "p.(Glu40Ala)" "" "0000276421" "00023874" "50" "58" "-53" "58" "-53" "c.58-53C>T" "r.(=)" "p.(=)" "" "0000276421" "00000178" "50" "278" "0" "278" "0" "c.278C>T" "r.(?)" "p.(Pro93Leu)" "" "0000319756" "00023874" "50" "5375" "0" "5375" "0" "c.*4607G>T" "r.(=)" "p.(=)" "" "0000319756" "00000178" "50" "5648" "0" "5648" "0" "c.*4607G>T" "r.(=)" "p.(=)" "" "0000326753" "00023874" "50" "706" "0" "706" "0" "c.706G>A" "r.(?)" "p.(Gly236Ser)" "" "0000326753" "00000178" "50" "979" "0" "979" "0" "c.979G>A" "r.(?)" "p.(Gly327Ser)" "" "0000326754" "00023874" "50" "-1704" "0" "-1704" "0" "c.-1704C>T" "r.(?)" "p.(=)" "" "0000326754" "00000178" "50" "-13392" "0" "-13392" "0" "c.-13392C>T" "r.(?)" "p.(=)" "" "0000405753" "00023874" "70" "145" "0" "145" "0" "c.145G>C" "r.(?)" "p.(Ala49Pro)" "" "0000405754" "00023874" "70" "343" "0" "345" "0" "c.343_345del" "r.(?)" "p.(Glu115del)" "" "0000408414" "00023874" "70" "-1904" "0" "144" "0" "c.(?_-1904)_(144_217-1)del" "r.0?" "p.0?" "_1_2i" "0000408414" "00000178" "70" "-13592" "0" "417" "0" "c.(?_-13592)_(417_?)del" "r.0?" "p.0?" "" "0000568285" "00023874" "30" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Val237Ile)" "" "0000568285" "00000178" "30" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Val328Ile)" "" "0000568286" "00023874" "30" "278" "0" "278" "0" "c.278C>T" "r.(?)" "p.(Pro93Leu)" "" "0000568286" "00000178" "30" "551" "0" "551" "0" "c.551C>T" "r.(?)" "p.(Pro184Leu)" "" "0000568287" "00023874" "30" "58" "-53" "58" "-53" "c.58-53dup" "r.(=)" "p.(=)" "" "0000568287" "00000178" "30" "278" "0" "278" "0" "c.278dup" "r.(?)" "p.(Pro94ThrfsTer8)" "" "0000568288" "00023874" "10" "58" "-53" "58" "-53" "c.58-53dup" "r.(=)" "p.(=)" "" "0000568288" "00000178" "10" "278" "0" "278" "0" "c.278dup" "r.(?)" "p.(Pro94ThrfsTer8)" "" "0000650048" "00023874" "50" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Ala193Thr)" "" "0000650048" "00000178" "50" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Ala284Thr)" "" "0000681500" "00023874" "50" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Cys)" "" "0000681500" "00000178" "50" "565" "0" "565" "0" "c.565C>T" "r.(?)" "p.(Arg189Cys)" "" "0000692877" "00023874" "50" "256" "0" "256" "0" "c.256G>A" "r.(?)" "p.(Gly86Ser)" "" "0000692877" "00000178" "50" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Gly177Ser)" "" "0000866256" "00023874" "50" "118" "0" "118" "0" "c.118C>A" "r.(?)" "p.(Pro40Thr)" "" "0000866256" "00000178" "50" "391" "0" "391" "0" "c.391C>A" "r.(?)" "p.(Pro131Thr)" "" "0000873902" "00023874" "10" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000873902" "00000178" "10" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "0000895112" "00023874" "70" "614" "0" "616" "0" "c.614_616del" "r.(?)" "p.(Lys205del)" "" "0000895112" "00000178" "70" "887" "0" "889" "0" "c.887_889del" "r.(?)" "p.(Lys296del)" "" "0000895113" "00023874" "50" "58" "-81" "58" "-81" "c.58-81C>G" "r.(=)" "p.(=)" "" "0000895113" "00000178" "50" "250" "0" "250" "0" "c.250C>G" "r.(?)" "p.(Pro84Ala)" "" "0000895114" "00023874" "50" "58" "-141" "58" "-141" "c.58-141G>C" "r.(=)" "p.(=)" "" "0000895114" "00000178" "50" "190" "0" "190" "0" "c.190G>C" "r.(?)" "p.(Glu64Gln)" "" "0000983633" "00023874" "30" "-1132" "0" "-1132" "0" "c.-1132G>A" "r.(?)" "p.(=)" "" "0000983633" "00000178" "30" "-12820" "0" "-12820" "0" "c.-12820G>A" "r.(?)" "p.(=)" "" "0001007261" "00000178" "70" "418" "0" "418" "0" "c.418G>C" "r.(?)" "p.(Ala140Pro)" "2" "0001007383" "00000178" "70" "616" "0" "618" "0" "c.616_618del" "r.(?)" "p.(Glu206del)" "3" "0001043149" "00023874" "50" "91" "0" "91" "0" "c.91A>G" "r.(?)" "p.(Thr31Ala)" "" "0001043149" "00000178" "50" "364" "0" "364" "0" "c.364A>G" "r.(?)" "p.(Thr122Ala)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 75 "{{screeningid}}" "{{variantid}}" "0000000004" "0000000730" "0000000005" "0000000731" "0000000008" "0000000750" "0000000009" "0000000751" "0000000010" "0000000686" "0000000012" "0000000714" "0000000014" "0000000705" "0000000015" "0000000713" "0000000020" "0000000734" "0000000021" "0000000706" "0000000022" "0000000737" "0000000024" "0000000699" "0000000025" "0000000718" "0000000026" "0000000740" "0000000027" "0000000746" "0000000031" "0000000693" "0000000033" "0000000697" "0000000034" "0000000698" "0000000035" "0000000704" "0000000036" "0000000708" "0000000037" "0000000709" "0000000039" "0000000727" "0000000041" "0000000733" "0000000042" "0000000738" "0000000044" "0000000741" "0000000047" "0000000689" "0000000048" "0000000692" "0000000049" "0000000696" "0000000050" "0000000701" "0000000051" "0000000729" "0000000052" "0000000742" "0000000053" "0000000745" "0000000054" "0000000715" "0000000055" "0000000719" "0000000056" "0000000747" "0000000057" "0000000695" "0000000061" "0000000728" "0000000062" "0000000752" "0000000063" "0000000700" "0000000064" "0000000707" "0000000065" "0000000753" "0000000067" "0000000687" "0000000068" "0000000703" "0000000069" "0000000721" "0000000070" "0000000723" "0000000071" "0000000725" "0000000072" "0000000739" "0000000073" "0000000743" "0000000075" "0000000688" "0000000077" "0000000722" "0000000078" "0000000736" "0000000081" "0000000716" "0000000082" "0000000702" "0000000083" "0000000710" "0000000085" "0000000690" "0000000086" "0000000717" "0000000087" "0000000724" "0000000088" "0000000726" "0000000089" "0000000732" "0000000092" "0000000748" "0000000094" "0000000712" "0000000096" "0000000720" "0000000097" "0000000694" "0000000099" "0000000735" "0000000100" "0000000749" "0000000101" "0000000744" "0000035764" "0000062889" "0000035765" "0000062890" "0000181965" "0000405753" "0000181965" "0000405754" "0000184369" "0000408414" "0000293359" "0000650048" "0000415985" "0000873902" "0000455228" "0001007261" "0000455228" "0001007383"