### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SDHC) # 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}}" "SDHC" "succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa" "1" "q21" "unknown" "NG_012767.1" "UD_132118495394" "" "http://www.LOVD.nl/SDHC" "https://mutalyzer.nl/normalizer/NG_012767.1%20(NM_003001.3):c.214C%3ET" "1" "10682" "6391" "602413" "1" "1" "1" "1" "Using Mutalyzer? (https://mutalyzer.nl/normalizer/) \r\nMake sure to use this gene-transcript configuration: NG_012767.1(NM_003001.3):\r\n\r\nInterpreting In Silico scores in SDH Variant DBs \r\nWe provide REVEL (unfortunately, due to technical reasons in the column named \"Mutation Taster\"), AGVGD and SIFT scores. REVEL (rare exome variant ensemble learner) is an ensemble method for predicting the pathogenicity of missense variants on the basis of the individual tools MutPred, FATHMM, VEST, Poly-Phen, SIFT, PROVEAN, MutationAssessor, MutationTaster, LRT, GERP, SiPhy, phyloP, and phastCons. (N.M. Ioannidis et al. American Journal of Human Genetics 99, 877–885, October 6, 2016). Align-GVGD assesses biophysical characteristics of amino acids and protein multiple sequence alignments to predict impact, with a score somewhere between 0 and 250, the higher the scores the more deleterious the change. The GD score is provided and is often very similar to raw Grantham traditional scores. SIFT (Sorting Intolerant From Tolerant) predicts whether an amino acid substitution affects protein function based on sequence homology and the physical properties of amino acids. In general, SIFT provides the least informative of the three scores. In general, scores above 0.6 in REVEL and scores above 80 in AGVGD indicate potentially pathogenic variants. Known pathogenic variants present in SDH LOVD invariably show high scores.\r\n\r\nA VUS in PPGL/HNPGL?\r\nIn the opinion of the curator the use of the term “VUS” is now excessive. In the case of rare diseases with variants in known causative genes, the emphasis should not be conservative (as in common conditions) but should assume causation and seek supportive evidence (conservation, protein region affected, in silico prediction tools, number of time reported in patients and in gnomAD). Only when no supporting evidence is found should one use the term “VUS”.\r\n\r\nCITATION: if you benefit from the use of this database and publish findings, please cite; Bayley JP, Devilee P, Taschner PE (2005). BMC Med Genet. 6:39.\r\n\r\nThe variants included in the database were derived from the published literature or submitted directly and, where necessary, annotated to conform to current HGVS mutation nomenclature. When you notice any omissions or mistakes, please let us know (thank you).\r\n\r\nDisclaimer: inclusion of sequence variants in the SDH mutation database does not imply that there is convincing evidence for pathogenicity." "" "g" "http://databases.lovd.nl/shared/refseq/SDHC_codingDNA.html" "1" "" "Leiden University Medical Center SDHC gene variant database\r\n
\r\n
" "-1" "" "-1" "00001" "2005-01-05 00:00:00" "01713" "2023-02-16 10:40:56" "00000" "2025-09-25 14:02:03" ## 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}}" "00018577" "SDHC" "transcript variant 1" "001" "NM_003001.3" "" "NP_002992.1" "" "" "" "-30" "2828" "510" "161284166" "161334541" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00318" "cancer, breast" "cancer, breast" "" "" "" "" "" "00006" "2014-02-02 14:42:53" "00006" "2019-08-28 08:24:47" "00999" "Carney complex" "Carney complex variant" "" "608837" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-08-13 09:29:05" "01926" "MEOAL;MMDS8" "mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy" "AR" "251900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-11-25 10:11:25" "02544" "PGL3" "paragangliomas, type 3 (PGL-3)" "AD" "605373" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02601" "GIST" "cancer, gastrointestinal stromal (GIST, gastrointestinal stromal tumor)" "AD;IC" "606764" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02614" "-" "paraganglioma, gastric stromal sarcoma" "" "606864" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-10-23 11:33:35" "04296" "MINAS" "neoplasia, multiple inherited alleles (MINAS)" "AD;AR;SMo" "" "" "" "" "00006" "2015-07-02 09:20:44" "00006" "2021-12-10 21:51:32" "05085" "PGL" "paraganglioma (PGL)" "" "" "" "" "" "00006" "2015-10-23 11:34:02" "00006" "2015-12-08 23:53:58" "05093" "cancer" "cancer" "" "" "" "" "" "00006" "2015-10-23 13:34:05" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "SDHC" "02544" "SDHC" "02601" "SDHC" "02614" ## Individuals ## Do not remove or alter this header ## ## Count = 80 "{{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}}" "00037009" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00047329" "" "" "" "1" "" "00727" "{PMID:Zbuk 2007:17898811}" "" "F" "" "(United States)" "" "0" "" "" "" "" "00072460" "" "" "" "1" "" "01713" "" "" "" "" "France" "" "0" "" "" "" "" "00072461" "" "" "" "1" "" "01713" "" "1 family 4 affected" "" "" "Spain" "" "0" "" "" "" "" "00072462" "" "" "" "3" "" "01713" "" "OMIM602413:0002; 2 families 6 affected; 1 isolated case" "" "" "Germany" "" "0" "" "" "" "" "00072463" "" "" "" "2" "" "01713" "" "1 isolated case" "" "" "Germany" "" "0" "" "" "" "" "00072464" "" "" "" "1" "" "01713" "" "1 isolated case" "F" "" "Italy" "" "0" "" "" "" "" "00072465" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Portugal" "" "0" "" "" "" "" "00072466" "" "" "" "1" "" "01713" "{PMID:Baysal 2004:15342702}" "family 7 affected; 1 isolated case" "" "" "United States" "" "0" "" "" "" "" "00072467" "" "" "" "1" "" "01713" "" "1 family 4 affected" "" "" "Italy" "" "0" "" "" "" "" "00072468" "" "" "" "1" "" "01713" "" "" "" "" "France" "" "0" "" "" "" "" "00072544" "" "" "" "1" "" "01043" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00072561" "" "" "" "3" "" "01713" "" "2 families 4 affected; 1 isolated case" "" "" "France; Germany; United States" "" "0" "" "" "" "" "00072562" "" "" "" "2" "" "01713" "" "1 family 4 affected; 1 isolated case" "" "" "Turkey; Poland" "" "0" "" "" "" "" "00072563" "" "" "" "1" "" "01713" "" "1 family 2 affected; 1 isolated case" "" "" "Germany" "" "0" "" "" "" "" "00072566" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "" "" "0" "" "" "" "" "00072739" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "United States" "" "0" "" "" "" "" "00072745" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "France" "" "0" "" "" "" "" "00072750" "" "" "" "2" "" "01713" "" "1 family 2 affected" "" "" "Poland; Germany" "" "0" "" "" "" "" "00072756" "" "" "" "1" "" "01043" "" "1 isolated case" "" "" "Netherlands" "" "0" "" "" "" "" "00072768" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "France" "" "0" "" "" "" "" "00072771" "" "" "" "1" "" "01713" "" "1 family 3 affected" "" "" "Spain" "" "0" "" "" "" "" "00072772" "" "" "" "1" "" "01713" "" "3 isolated cases" "" "" "Spain" "" "0" "" "" "" "" "00072824" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Germany" "" "0" "" "" "" "" "00072825" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Germany" "" "0" "" "" "" "" "00072826" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Germany" "" "0" "" "" "" "" "00072829" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Germany" "" "0" "" "" "" "" "00072830" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Germany" "" "0" "" "" "" "" "00072831" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Germany" "" "0" "" "" "" "" "00072832" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Germany" "" "0" "" "" "" "" "00072833" "" "" "" "1" "" "01713" "" "2 families 2 affected" "" "" "Germany" "" "0" "" "" "" "" "00072847" "" "" "" "1" "" "01713" "" "2 families 2 affected" "" "" "Germany" "" "0" "" "" "" "" "00072848" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Germany" "" "0" "" "" "" "" "00072853" "" "" "" "0" "" "01713" "" "1 family 1 affected" "" "" "France" "" "0" "" "" "" "" "00072854" "" "" "" "0" "" "01713" "" "1 family 1 affected" "" "" "France" "" "0" "" "" "" "" "00072855" "" "" "" "0" "" "01713" "" "1 family 1 affected" "" "" "France" "" "0" "" "" "" "" "00072856" "" "" "" "0" "" "01713" "" "1 family 1 affected" "" "" "France" "" "0" "" "" "" "" "00072857" "" "" "" "0" "" "01713" "" "2 families 2 affected" "" "" "France" "" "0" "" "" "" "" "00072858" "" "" "" "0" "" "01713" "" "1 family 1 affected" "" "" "France" "" "0" "" "" "" "" "00072859" "" "" "" "0" "" "01713" "" "1 family 1 affected" "" "" "France" "" "0" "" "" "" "" "00072860" "" "" "" "0" "" "01713" "" "" "" "" "France" "" "0" "" "" "" "" "00072861" "" "" "" "0" "" "01713" "" "" "" "" "France" "" "0" "" "" "" "" "00072862" "" "" "" "0" "" "01713" "" "1 family 1 affected" "" "" "France" "" "0" "" "" "" "" "00072863" "" "" "" "0" "" "01713" "" "1 family 1 affected" "" "" "France" "" "0" "" "" "" "" "00072864" "" "" "" "0" "" "01713" "" "" "" "" "France" "" "0" "" "" "" "" "00072865" "" "" "" "0" "" "01713" "" "3 families 5 affected" "" "" "France" "" "0" "" "" "" "" "00072866" "" "" "" "0" "" "01713" "" "" "" "" "France" "" "0" "" "" "" "" "00072867" "" "" "" "0" "" "01713" "" "1 family 1 affected" "" "" "France" "" "0" "" "" "" "" "00072868" "" "" "" "0" "" "01713" "" "" "" "" "France" "" "0" "" "" "" "" "00072931" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Netherlands" "" "0" "" "" "" "" "00072939" "" "" "" "0" "" "01655" "" "" "" "" "China" "" "0" "" "" "" "" "00072940" "" "" "" "1" "" "01655" "" "" "" "" "China" "" "0" "" "" "" "" "00073047" "" "" "" "1" "" "01657" "" "" "" "" "" "" "0" "" "" "" "" "00073077" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "United States" "" "0" "" "" "" "" "00079387" "" "" "" "1" "" "01713" "{PMID:Crona:3899286}" "Unilateral, 25 mm" "" "" "Sweden" "" "0" "" "" "" "" "00079388" "" "" "" "1" "" "01713" "{PMID:Crona:3899286}" "Unilateral, 65 mm" "" "" "Sweden" "" "0" "" "" "" "" "00079394" "" "" "" "2" "" "01713" "{PMID:Else:24758179}" "HN (glomus jugulare) T (posterior to ascending aorta), glomus jugulare, carotid body" "" "" "United States" "" "0" "" "" "" "" "00079395" "" "" "" "1" "" "01713" "{PMID:Else:24758179}" "HN (carotid body, glomus vagale)" "" "" "United States" "" "0" "" "" "" "" "00079396" "" "" "" "1" "" "01713" "{PMID:Else:24758179}" "HN (glomus jugulare)" "" "" "United States" "" "0" "" "" "" "" "00079397" "" "" "" "1" "" "01713" "{PMID:Else:24758179}" "HN (carotid body)" "" "" "United States" "" "0" "" "" "" "" "00079400" "" "" "" "1" "" "01713" "{PMID:Fruhmann:23433498}" "" "" "" "Australia" "" "0" "" "" "" "" "00079402" "" "" "" "1" "" "01713" "{PMID:Iacobone:22136840}" "malignant PGL" "" "" "Italy" "" "0" "" "" "" "" "00079412" "" "" "" "1" "" "01713" "{PMID:Lefebvre:22517554}" "" "" "" "France" "" "0" "" "" "" "" "00079413" "" "" "" "1" "" "01713" "{PMID:Lefebvre:22517554}" "" "" "" "France" "" "0" "" "" "" "" "00079414" "" "" "" "1" "" "01713" "{PMID:Lefebvre:22517554}" "" "" "" "France" "" "0" "" "" "" "" "00079424" "" "" "" "1" "" "01713" "{PMID:Miettinen:23282968}" "SDHA-positive GIST" "" "" "United States" "" "0" "" "" "" "" "00079425" "" "" "" "2" "" "01713" "{PMID:Miettinen:23282968}, {PMID:Rattenberry:23666964}, {PMID:Dénes:25494863}, {PMID:Gill:24150194}" "SDHA-positive GIST" "" "" "United Kingdom (Great Britain);United States" "" "0" "" "" "" "" "00079435" "" "" "" "1" "" "01713" "{PMID:Pantaleo:23612575}" "" "" "" "Italy" "" "0" "" "" "" "" "00079449" "" "" "" "1" "" "01713" "{PMID:Rattenberry:23666964}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00079450" "" "" "" "1" "" "01713" "{PMID:Rattenberry:23666964}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00079489" "" "" "" "1" "" "01713" "{PMID:Buffet:22517557}" "" "" "" "France" "" "0" "" "" "" "" "00079490" "" "" "" "1" "" "01713" "{PMID:Buffet:22517557}" "" "" "" "France" "" "0" "" "" "" "" "00079491" "" "" "" "1" "" "01713" "{PMID:Buffet:22517557}" "" "" "" "France; United Kingdom (Great Britain)" "" "0" "" "" "" "" "00079492" "" "" "" "1" "" "01713" "{PMID:Buffet:22517557}" "" "" "" "France" "" "0" "" "" "" "" "00079493" "" "" "" "1" "" "01713" "{PMID:Buffet:22517557}" "negative SDHB immunohistochemistry" "" "" "France" "" "0" "" "" "" "" "00079494" "" "" "" "1" "" "01713" "{PMID:Lefebvre:22517554}" "" "" "" "France" "" "0" "" "" "" "" "00092280" "" "" "" "1" "" "01713" "{PMID:Boikos:4929866}" "Carney triad, the association of paragangliomas/pheochromocytomas, gastrointestinal stromal tumors and pulmonary chondromas" "F" "?" "United States" "" "0" "" "" "" "" "00092281" "" "" "" "1" "" "01713" "{PMID:Boikos:4929866}" "Carney triad, the association of paragangliomas/pheochromocytomas, gastrointestinal stromal tumors and pulmonary chondromas" "M" "?" "United States" "" "0" "" "" "" "" "00092283" "" "" "" "1" "" "01713" "{PMID:Boikos:4929866}" "Carney triad, the association of paragangliomas/pheochromocytomas, gastrointestinal stromal tumors and pulmonary chondromas" "F" "?" "United States" "" "0" "" "" "" "" "00246561" "" "" "" "1" "" "00643" "{PMID:Fostira 2020:31300551}" "" "" "" "Greece" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 84 "{{individualid}}" "{{diseaseid}}" "00037009" "01926" "00047329" "04296" "00072460" "05085" "00072461" "05085" "00072462" "05085" "00072462" "05093" "00072463" "05085" "00072464" "05085" "00072465" "05085" "00072466" "05085" "00072467" "05085" "00072468" "05085" "00072544" "05085" "00072561" "05085" "00072561" "05093" "00072562" "05085" "00072563" "05085" "00072566" "05085" "00072566" "05093" "00072739" "05085" "00072745" "05085" "00072750" "05085" "00072756" "05085" "00072768" "05085" "00072771" "05085" "00072772" "00198" "00072824" "00198" "00072825" "00198" "00072826" "00198" "00072829" "05085" "00072830" "05085" "00072831" "05085" "00072832" "05085" "00072833" "05085" "00072847" "05085" "00072848" "05085" "00072853" "00198" "00072854" "00198" "00072855" "00198" "00072856" "00198" "00072857" "00198" "00072858" "00198" "00072859" "00198" "00072860" "00198" "00072861" "00198" "00072862" "00198" "00072863" "00198" "00072864" "00198" "00072865" "00198" "00072866" "00198" "00072867" "00198" "00072868" "00198" "00072931" "05085" "00072939" "05085" "00072940" "05085" "00073047" "05085" "00073077" "00198" "00079387" "05085" "00079388" "05085" "00079394" "05085" "00079395" "05085" "00079396" "05085" "00079397" "05085" "00079400" "05085" "00079402" "05085" "00079412" "05085" "00079413" "05085" "00079414" "05085" "00079424" "05093" "00079425" "05085" "00079425" "05093" "00079435" "05093" "00079449" "05085" "00079450" "05085" "00079489" "05085" "00079490" "05085" "00079491" "05085" "00079492" "05085" "00079493" "05085" "00079494" "00198" "00092280" "00999" "00092281" "00999" "00092283" "00999" "00246561" "00318" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00318, 00999, 01926, 02544, 02601, 02614, 04296, 05085, 05093 ## Count = 84 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Cancer/Sub_type}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000034750" "04296" "00047329" "00006" "Unknown" "" "macrocepahly; Papillomatous papules; Paraganglioma. Left common carotid 18y; Fibrocystic breast diasease 20-30y; Papillary thyroid cancer 37y; Paraganglioma. Right carotid body 39y; Uterine leiomyomas 30-40y" "" "" "" "" "" "" "" "" "" "" "neoplasia, multiple inherited alleles (MINAS)" "" "0000052136" "05085" "00072460" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB" "" "" "" "0000052137" "05085" "00072461" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB" "" "" "" "0000052138" "05093" "00072462" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "RCC" "" "" "" "0000052139" "05085" "00072462" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000052140" "05085" "00072463" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-J" "" "" "" "0000052141" "05085" "00072464" "01713" "Unknown" "15y" "hypertension & norepinephrine-secreting abdominal paraganglioma" "" "" "" "" "" "" "" "" "PGL-EA" "" "" "" "0000052142" "05085" "00072465" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-J" "" "" "" "0000052143" "05085" "00072466" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB" "" "" "" "0000052144" "05085" "00072467" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB;PGL-J" "" "" "" "0000052145" "05085" "00072468" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB" "" "" "" "0000052223" "05085" "00072544" "01043" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000052240" "05093" "00072561" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "GIST" "" "" "" "0000052241" "05085" "00072561" "01713" "Unknown" "" "Aortic PGL; synchronous carotid body and thoracic aortopulmonary PGLs" "" "" "" "" "" "" "" "" "PGL;PGL-CB" "" "" "" "0000052242" "05085" "00072562" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB;PGL-J" "" "" "" "0000052243" "05085" "00072563" "01713" "Unknown" "" "Metastatic Cat+" "" "" "" "" "" "" "" "" "PGL-CB;PGL-J" "" "" "" "0000052247" "05093" "00072566" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "GIST" "" "" "" "0000052248" "05085" "00072566" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000052430" "05085" "00072739" "01713" "Unknown" "" "Bilateral CB Pgl, together with PTEN mutation- Cowden Syndrome" "" "" "" "" "" "" "" "" "PGL-CB" "" "" "" "0000052436" "05085" "00072745" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB;PGL-V" "" "" "" "0000052441" "05085" "00072750" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-EA;PCC-EA" "" "" "" "0000052447" "05085" "00072756" "01043" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000052459" "05085" "00072768" "01713" "Unknown" "" "Laryngeal PGL, patient also had a papillary thyroid carcinoma" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000052462" "05085" "00072771" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB" "" "" "" "0000052463" "00198" "00072772" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052515" "00198" "00072824" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052516" "00198" "00072825" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052517" "00198" "00072826" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052520" "05085" "00072829" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000052521" "05085" "00072830" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000052522" "05085" "00072831" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000052523" "05085" "00072832" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000052524" "05085" "00072833" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000052538" "05085" "00072847" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000052539" "05085" "00072848" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000052544" "00198" "00072853" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052545" "00198" "00072854" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052546" "00198" "00072855" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052547" "00198" "00072856" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052548" "00198" "00072857" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052549" "00198" "00072858" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052550" "00198" "00072859" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052551" "00198" "00072860" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052552" "00198" "00072861" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052553" "00198" "00072862" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052554" "00198" "00072863" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052555" "00198" "00072864" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052556" "00198" "00072865" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052557" "00198" "00072866" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052558" "00198" "00072867" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052559" "00198" "00072868" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052622" "05085" "00072931" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000052630" "05085" "00072939" "01655" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-J" "" "" "" "0000052631" "05085" "00072940" "01655" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB;PGL-V" "" "" "" "0000052738" "05085" "00073047" "01657" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-V" "" "" "" "0000052769" "00198" "00073077" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059109" "05085" "00079387" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000059110" "05085" "00079388" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000059116" "05085" "00079394" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000059117" "05085" "00079395" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000059118" "05085" "00079396" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000059119" "05085" "00079397" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000059122" "05085" "00079400" "01713" "Unknown" "" "Pituitary Adenoma" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059124" "05085" "00079402" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000059135" "05085" "00079412" "01713" "Unknown" "" "sporadic" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000059136" "05085" "00079413" "01713" "Unknown" "" "sporadic" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000059137" "05085" "00079414" "01713" "Unknown" "" "sporadic" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000059147" "05093" "00079424" "01713" "Unknown" "" "Pheo/PGL" "" "" "" "" "" "" "" "" "" "" "" "" "0000059148" "05093" "00079425" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "GIST" "" "" "" "0000059149" "05085" "00079425" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN;PCC" "" "" "" "0000059159" "05093" "00079435" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059173" "05085" "00079449" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059174" "05085" "00079450" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000059213" "05085" "00079489" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059214" "05085" "00079490" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059215" "05085" "00079491" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL;PGL-HN" "" "" "" "0000059216" "05085" "00079492" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059217" "05085" "00079493" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059218" "00198" "00079494" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070619" "00999" "00092280" "01713" "Unknown" "" "Carney triad = paragangliomas-pheochromocytomas, gastrointestinal stromal tumors and pulmonary chondromas" "" "20" "" "" "" "" "" "" "" "" "" "" "0000070620" "00999" "00092281" "01713" "Unknown" "" "Carney triad, the association of paragangliomas/pheochromocytomas, gastrointestinal stromal tumors and pulmonary chondromas" "" "20" "" "" "" "" "" "" "" "" "" "" "0000070623" "00999" "00092283" "01713" "Unknown" "" "Carney triad, the association of paragangliomas/pheochromocytomas, gastrointestinal stromal tumors and pulmonary chondromas" "" "13" "" "" "" "" "" "" "" "" "" "" "0000156790" "01926" "00037009" "01164" "Unknown" "" "mitochondrial myopathy type I; succinat dehydrogenase deficiency" "" "" "" "" "" "" "" "" "" "" "mitochondrial myopathy" "" "0000186412" "00318" "00246561" "00643" "Unknown" "" "no family history; no triple-negative breast cancer; 31y first breast cancer, 31y second breast cancer" "" "" "" "" "" "" "" "" "" "" "breast cancer" "" ## Screenings ## Do not remove or alter this header ## ## Count = 80 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000037079" "00037009" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000047430" "00047329" "1" "00727" "00727" "2015-08-20 18:25:47" "" "" "SEQ" "DNA" "" "" "0000072617" "00072460" "1" "01713" "01713" "2005-04-21 14:00:14" "" "" "SEQ" "DNA" "" "" "0000072618" "00072461" "1" "01713" "01713" "2005-11-07 17:29:49" "" "" "DHPLC;SEQ;SSCA" "DNA" "" "" "0000072619" "00072462" "1" "01713" "01713" "2005-04-21 14:00:14" "" "" "SEQ" "DNA;RNA" "" "" "0000072620" "00072463" "1" "01713" "01713" "2005-11-07 17:35:47" "" "" "DHPLC;SEQ;SSCA" "DNA" "" "" "0000072621" "00072464" "1" "01713" "01713" "2005-11-07 17:38:25" "" "" "SEQ" "DNA" "" "" "0000072622" "00072465" "1" "01713" "01713" "2005-04-21 14:00:14" "" "" "DHPLC;SEQ;SSCA" "DNA" "" "" "0000072623" "00072466" "1" "01713" "01713" "2005-04-21 14:00:14" "" "" "SEQ" "DNA" "" "" "0000072624" "00072467" "1" "01713" "01713" "2005-11-07 17:44:02" "" "" "SSCA;DHPLC;SEQ" "DNA" "" "" "0000072625" "00072468" "1" "01713" "01713" "2005-04-21 14:00:14" "" "" "SEQ" "DNA" "" "" "0000072701" "00072544" "1" "01043" "01043" "2007-08-24 09:41:42" "" "" "SEQ" "DNA" "" "" "0000072718" "00072561" "1" "01713" "01713" "2007-09-03 12:24:06" "" "" "SEQ" "DNA" "" "" "0000072719" "00072562" "1" "01713" "01713" "2007-09-03 12:39:09" "" "" "SEQ" "DNA" "" "" "0000072720" "00072563" "1" "01713" "01713" "2007-09-03 12:52:05" "" "" "SEQ" "DNA" "" "" "0000072723" "00072566" "1" "01713" "01713" "2007-09-03 14:45:19" "" "" "SEQ" "DNA" "" "" "0000072896" "00072739" "1" "01713" "01713" "2007-10-18 17:21:13" "" "" "SEQ" "DNA" "" "" "0000072902" "00072745" "1" "01713" "01713" "2007-12-03 17:50:48" "" "" "SEQ" "DNA" "" "" "0000072907" "00072750" "1" "01713" "01713" "2008-02-05 11:48:24" "" "" "DHPLC;SEQ" "DNA" "" "" "0000072913" "00072756" "1" "01043" "01043" "2008-05-13 12:36:38" "" "" "SEQ" "DNA" "" "" "0000072925" "00072768" "1" "01713" "01713" "2008-08-21 15:32:34" "" "" "SEQ" "DNA" "" "" "0000072928" "00072771" "1" "01713" "01713" "2008-08-21 16:41:44" "" "" "SEQ" "DNA" "" "" "0000072929" "00072772" "1" "01713" "01713" "2008-08-21 16:47:26" "" "" "SEQ" "DNA" "" "" "0000072981" "00072824" "1" "01713" "01713" "2009-08-20 16:47:04" "" "" "SEQ" "DNA" "" "" "0000072982" "00072825" "1" "01713" "01713" "2009-08-20 16:49:42" "" "" "SEQ" "DNA" "" "" "0000072983" "00072826" "1" "01713" "01713" "2009-08-20 16:57:21" "" "" "SEQ" "DNA" "" "" "0000072986" "00072829" "1" "01713" "01713" "2009-09-03 11:24:09" "" "" "SEQ" "DNA" "" "" "0000072987" "00072830" "1" "01713" "01713" "2009-09-03 11:26:31" "" "" "SEQ" "DNA" "" "" "0000072988" "00072831" "1" "01713" "01713" "2009-09-03 11:29:13" "" "" "SEQ" "DNA" "" "" "0000072989" "00072832" "1" "01713" "01713" "2009-09-03 11:32:07" "" "" "SEQ" "DNA" "" "" "0000072990" "00072833" "1" "01713" "01713" "2009-09-03 11:34:13" "" "" "SEQ" "DNA" "" "" "0000073004" "00072847" "1" "01713" "01713" "2009-09-04 09:56:29" "" "" "SEQ" "DNA" "" "" "0000073005" "00072848" "1" "01713" "01713" "2009-09-04 09:57:54" "" "" "SEQ" "DNA" "" "" "0000073010" "00072853" "1" "01713" "01713" "2009-09-04 17:16:35" "" "" "SEQ" "DNA" "" "" "0000073011" "00072854" "1" "01713" "01713" "2009-09-04 17:16:35" "" "" "SEQ" "DNA" "" "" "0000073012" "00072855" "1" "01713" "01713" "2009-09-04 17:16:35" "" "" "SEQ" "DNA" "" "" "0000073013" "00072856" "1" "01713" "01713" "2009-09-04 17:16:35" "" "" "SEQ" "DNA" "" "" "0000073014" "00072857" "1" "01713" "01713" "2009-09-04 17:16:35" "" "" "SEQ" "DNA" "" "" "0000073015" "00072858" "1" "01713" "01713" "2009-09-04 17:16:35" "" "" "SEQ" "DNA" "" "" "0000073016" "00072859" "1" "01713" "01713" "2009-09-04 17:16:35" "" "" "PCRm;MLPA" "DNA" "" "" "0000073017" "00072860" "1" "01713" "01713" "2009-09-04 17:16:35" "" "" "SEQ" "DNA" "" "" "0000073018" "00072861" "1" "01713" "01713" "2009-09-04 17:16:35" "" "" "SEQ" "DNA" "" "" "0000073019" "00072862" "1" "01713" "01713" "2009-09-04 17:16:35" "" "" "PCRm;MLPA" "DNA" "" "" "0000073020" "00072863" "1" "01713" "01713" "2009-09-04 17:16:35" "" "" "SEQ" "DNA" "" "" "0000073021" "00072864" "1" "01713" "01713" "2009-09-04 17:16:35" "" "" "SEQ" "DNA" "" "" "0000073022" "00072865" "1" "01713" "01713" "2009-09-04 17:16:35" "" "" "SEQ" "DNA" "" "" "0000073023" "00072866" "1" "01713" "01713" "2009-09-04 17:16:35" "" "" "SEQ" "DNA" "" "" "0000073024" "00072867" "1" "01713" "01713" "2009-09-04 17:16:35" "" "" "SEQ" "DNA" "" "" "0000073025" "00072868" "1" "01713" "01713" "2009-09-04 17:16:35" "" "" "SEQ" "DNA" "" "" "0000073088" "00072931" "1" "01713" "01713" "2009-09-09 11:18:51" "" "" "MLPA" "DNA" "" "" "0000073096" "00072939" "1" "01655" "01655" "2009-12-05 09:31:33" "" "" "SEQ" "DNA" "" "" "0000073097" "00072940" "1" "01655" "01655" "2009-12-05 09:33:23" "" "" "SEQ" "DNA" "" "" "0000073204" "00073047" "1" "01657" "01657" "2011-01-14 12:18:09" "" "" "SEQ" "DNA" "" "" "0000073234" "00073077" "1" "01713" "01713" "2011-12-21 16:13:38" "" "" "SEQ" "DNA" "" "" "0000079460" "00079387" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079461" "00079388" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079467" "00079394" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079468" "00079395" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "?" "DNA" "" "" "0000079469" "00079396" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079470" "00079397" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079473" "00079400" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079475" "00079402" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079485" "00079412" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079486" "00079413" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079487" "00079414" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079497" "00079424" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079498" "00079425" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ; SEQ-NG" "DNA" "" "" "0000079508" "00079435" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079522" "00079449" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ-NG" "DNA" "" "" "0000079523" "00079450" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ-NG" "DNA" "" "" "0000079562" "00079489" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079563" "00079490" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079564" "00079491" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ; SEQ-NG" "DNA" "" "" "0000079565" "00079492" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079566" "00079493" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079567" "00079494" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA;RNA" "" "" "0000092420" "00092280" "1" "01713" "01713" "2016-12-17 15:59:17" "" "" "SEQ" "DNA" "" "" "0000092421" "00092281" "1" "01713" "01713" "2016-12-17 16:04:03" "" "" "SEQ" "DNA" "" "" "0000092423" "00092283" "1" "01713" "01713" "2016-12-17 16:17:45" "" "" "SEQ" "DNA" "" "" "0000247673" "00246561" "1" "00643" "00006" "2019-07-12 12:55:51" "" "" "SEQ" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 82 "{{screeningid}}" "{{geneid}}" "0000037079" "SDHC" "0000047430" "PTEN" "0000047430" "SDHC" "0000072617" "SDHC" "0000072618" "SDHC" "0000072619" "SDHC" "0000072620" "SDHC" "0000072621" "SDHC" "0000072622" "SDHC" "0000072623" "SDHC" "0000072624" "SDHC" "0000072625" "SDHC" "0000072701" "SDHC" "0000072718" "SDHC" "0000072719" "SDHC" "0000072720" "SDHC" "0000072723" "SDHC" "0000072896" "SDHC" "0000072902" "SDHC" "0000072907" "SDHC" "0000072913" "SDHC" "0000072925" "SDHC" "0000072928" "SDHC" "0000072929" "SDHC" "0000072981" "SDHC" "0000072982" "SDHC" "0000072983" "SDHC" "0000072986" "SDHC" "0000072987" "SDHC" "0000072988" "SDHC" "0000072989" "SDHC" "0000072990" "SDHC" "0000073004" "SDHC" "0000073005" "SDHC" "0000073010" "SDHC" "0000073011" "SDHC" "0000073012" "SDHC" "0000073013" "SDHC" "0000073014" "SDHC" "0000073015" "SDHC" "0000073016" "SDHC" "0000073017" "SDHC" "0000073018" "SDHC" "0000073019" "SDHC" "0000073020" "SDHC" "0000073021" "SDHC" "0000073022" "SDHC" "0000073023" "SDHC" "0000073024" "SDHC" "0000073025" "SDHC" "0000073088" "SDHC" "0000073096" "SDHC" "0000073097" "SDHC" "0000073204" "SDHC" "0000073234" "SDHC" "0000079460" "SDHC" "0000079461" "SDHC" "0000079467" "SDHC" "0000079468" "SDHC" "0000079469" "SDHC" "0000079470" "SDHC" "0000079473" "SDHC" "0000079475" "SDHC" "0000079485" "SDHC" "0000079486" "SDHC" "0000079487" "SDHC" "0000079497" "SDHC" "0000079498" "SDHC" "0000079508" "SDHB" "0000079522" "SDHB" "0000079523" "SDHC" "0000079562" "SDHC" "0000079563" "SDHC" "0000079564" "SDHC" "0000079565" "SDHC" "0000079566" "SDHC" "0000079567" "SDHC" "0000092420" "SDHC" "0000092421" "SDHC" "0000092423" "SDHC" "0000247673" "BRCA2" "0000247673" "SDHC" ## 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 = 143 "{{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}}" "0000064204" "1" "33" "1" "161332149" "161332149" "subst" "0" "01164" "SDHC_000048" "g.161332149C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.161362359C>A" "" "likely benign" "" "0000076127" "0" "90" "1" "161326622" "161326622" "subst" "3.28178E-5" "00727" "SDHC_000015" "g.161326622C>T" "" "{PMID:Zbuk 2007:17898811}" "" "" "" "Germline" "" "" "0" "" "" "g.161356832C>T" "" "pathogenic" "" "0000116690" "1" "51" "1" "161284184" "161284184" "subst" "0" "01713" "SDHC_000005" "g.161284184C>T" "" "{PMID:Bauters:12807974}" "" "Promoter SNP" "Reported as Promoter Polymorphism" "Germline" "" "" "0" "" "" "g.161314394C>T" "" "VUS" "" "0000116691" "0" "59" "1" "161284166" "161284216" "del" "0" "01713" "SDHC_000043" "g.(?_161284166)_(161284216_161293403)del" "" "{PMID:Burnichon:19454582}" "" "exon 1 deletion" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000116692" "1" "59" "1" "161284196" "161284196" "subst" "4.06415E-6" "01713" "SDHC_000006" "g.161284196A>G" "" "{PMID:Schiavi:16249420}" "" "1A/G M1V/loss of start codon" "" "Germline" "" "" "0" "" "" "g.161314406A>G" "" "pathogenic" "" "0000116693" "0" "59" "1" "161284196" "161284196" "subst" "4.06415E-6" "01713" "SDHC_000006" "g.161284196A>G" "" "{PMID:Burnichon:19454582}" "" "p.Met1?" "" "Germline" "" "" "0" "" "" "g.161314406A>G" "" "pathogenic" "" "0000116694" "0" "99" "1" "161284197" "161284197" "subst" "0" "01713" "SDHC_000022" "g.161284197T>A" "" "{PMID:Neumann:19351833}" "" "" "" "Germline" "" "" "0" "" "" "g.161314407T>A" "" "pathogenic" "" "0000116695" "0" "95" "1" "161284197" "161284197" "subst" "0" "01657" "SDHC_000022" "g.161284197T>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.161314407T>A" "" "pathogenic" "" "0000116696" "1" "59" "1" "161284198" "161284198" "subst" "0" "01713" "SDHC_000001" "g.161284198G>A" "" "{PMID:Niemann:11062460}, {PMID:Neumann:19351833}, {PMID:Malinoc: 22351710}" "" "G-->A Start codon ATG" "" "Germline" "" "" "0" "" "" "g.161314408G>A" "" "pathogenic" "" "0000116697" "0" "57" "1" "161284217" "161284217" "subst" "0" "01713" "SDHC_000016" "g.161284217T>G" "" "{PMID:Fakhry:17987308}" "" "IVS1+2A>C" "" "Germline" "" "" "0" "" "" "g.161314427T>G" "" "likely pathogenic" "" "0000116698" "0" "51" "1" "161284226" "161284227" "dup" "0" "01713" "SDHC_000032" "g.161284226_161284227dup" "" "{PMID:Burnichon:19454582}" "" "" "Allelic freq controls 11/200; patients 63/420" "Germline" "" "" "0" "" "" "g.161314436_161314437dup" "" "VUS" "" "0000116699" "1" "11" "1" "161284228" "161284229" "ins" "0" "01713" "SDHC_000010" "g.161284228_161284229insTG" "12/192 (6.3%)" "Garcia-Rostan" "" "IVS1+13insTG" "" "Germline" "" "" "0" "" "" "g.161314438_161314439insTG" "" "benign" "" "0000116700" "0" "53" "1" "161284297" "161284297" "subst" "0" "01713" "SDHC_000033" "g.161284297T>C" "" "{PMID:Burnichon:19454582}" "" "" "Allelic freq: controls 10/156; patients 9/420" "Germline" "" "rs11265589" "0" "" "" "g.161314507T>C" "" "VUS" "" "0000116701" "0" "53" "1" "161293308" "161293308" "subst" "0" "01713" "SDHC_000036" "g.161293308C>T" "" "{PMID:Burnichon:19454582}" "" "" "Allelic freq: controls 17/200; patients 68/428" "Germline" "" "rs4255403" "0" "" "" "g.161323518C>T" "" "VUS" "" "0000116702" "0" "57" "1" "161293402" "161293402" "subst" "0" "01713" "SDHC_000035" "g.161293402A>C" "" "{PMID:Burnichon:19454582}" "" "Splicesite" "" "Germline" "" "" "0" "" "" "g.161323612A>C" "" "VUS" "" "0000116703" "0" "59" "1" "161293403" "161293461" "del" "0" "01713" "SDHC_000034" "g.(161284216_161293403)_(161293461_161298185)del" "" "{PMID:Burnichon:19454582}" "" "exon 2 deletion" "LOH at SDHC locus; SDHB protein expression=0" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000116704" "0" "99" "1" "161293406" "161293406" "dup" "0" "01713" "SDHC_000023" "g.161293406dup" "" "{PMID:Neumann:19351833}" "" "" "" "Germline" "" "" "0" "" "" "g.161323616dup" "" "pathogenic" "" "0000116705" "1" "59" "1" "161293422" "161293422" "subst" "0" "01713" "SDHC_000007" "g.161293422C>A" "" "{PMID:Schiavi:16249420}, {PMID:Neumann:19351833}" "" "39 C/A, C13X" "" "Germline" "" "" "0" "" "" "g.161323632C>A" "" "pathogenic" "" "0000116706" "0" "79" "1" "161293426" "161293426" "subst" "8.20748E-6" "01713" "SDHC_000013" "g.161293426C>T" "" "{PMID:Pasini:17667967}, {PMID:Neumann:19351833}, {PMID:Vandy:21106325}" "" "" "" "Germline" "" "" "0" "" "" "g.161323636C>T" "" "pathogenic" "" "0000116707" "0" "59" "1" "161293426" "161293426" "subst" "8.20748E-6" "01713" "SDHC_000013" "g.161293426C>T" "" "{PMID:Burnichon:19454582}" "" "p.Arg15X" "" "Germline" "" "" "0" "" "" "g.161323636C>T" "" "pathogenic" "" "0000116708" "0" "13" "1" "161293496" "161293496" "subst" "0" "01043" "SDHC_000012" "g.161293496T>A" "" "" "" "IVS2" "No predicted splice site change, not in dbSNP" "Unknown" "" "" "0" "" "" "g.161323706T>A" "" "benign" "" "0000116709" "0" "59" "1" "161298184" "161298184" "subst" "0" "01713" "SDHC_000017" "g.161298184A>G" "" "{PMID:Peczkowska:18212813}, {PMID:Neumann:19351833}" "" "" "Proven exon 3 skipping, adrenal pheo & EA-PGL" "Germline" "" "" "0" "" "" "g.161328394A>G" "" "VUS" "" "0000116710" "1" "59" "1" "161298234" "161298234" "subst" "0" "01713" "SDHC_000011" "g.161298234G>A" "" "{PMID:Mannelli:17557926}" "" "" "" "Germline" "" "" "0" "" "" "g.161328444G>A" "" "pathogenic" "" "0000116711" "0" "93" "1" "161298236" "161298236" "subst" "8.12137E-6" "01655" "SDHC_000045" "g.161298236A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.161328446A>G" "" "VUS" "" "0000116712" "0" "53" "1" "161298274" "161298274" "subst" "0" "01713" "SDHC_000025" "g.161298274A>T" "" "{PMID:Neumann:19351833}" "" "" "" "Germline" "" "" "0" "" "" "g.161328484A>T" "" "VUS" "" "0000116713" "0" "97" "1" "161298281" "161298281" "subst" "4.06111E-6" "01713" "SDHC_000026" "g.161298281T>C" "" "{PMID:Neumann:19351833}" "" "" "" "Germline" "" "" "0" "" "" "g.161328491T>C" "" "likely pathogenic" "" "0000116714" "0" "97" "1" "161298256" "161298256" "subst" "0" "01713" "SDHC_000024" "g.161298256C>T" "" "{PMID:Neumann:19351833}" "" "" "" "Germline" "" "" "0" "" "" "g.161328466C>T" "" "likely pathogenic" "" "0000116715" "0" "59" "1" "161298288" "161334541" "del" "0" "01713" "SDHC_000030" "g.(161298288_161310383)_(161334541)del" "" "{PMID:Neumann:19351833}" "" "Deletion Exon 4-6" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000116716" "0" "79" "1" "161310387" "161310387" "subst" "0" "01713" "SDHC_000019" "g.161310387G>A" "" "{PMID:Garrel:18267044}" "" "" "" "Germline" "" "" "0" "" "" "g.161340597G>A" "" "pathogenic" "" "0000116717" "0" "53" "1" "161310401" "161310401" "subst" "2.46202E-5" "01713" "SDHC_000047" "g.161310401C>T" "" "{PMID:Ni:21979946}" "" "" "" "Germline" "" "" "0" "" "" "g.161340611C>T" "" "VUS" "" "0000116718" "0" "97" "1" "161310414" "161310414" "subst" "0" "01713" "SDHC_000027" "g.161310414C>G" "" "{PMID:Neumann:19351833}" "" "" "" "Germline" "" "" "0" "" "" "g.161340624C>G" "" "likely pathogenic" "" "0000116719" "0" "99" "1" "161310418" "161310418" "subst" "1.23091E-5" "01713" "SDHC_000008" "g.161310418C>T" "" "{PMID:Bayley:16405730}, {PMID:Schiavi:16249420}" "" "214 C/T, R72C" "functional domain, conserved residue, 0/164 controls" "Germline" "" "" "0" "" "" "g.161340628C>T" "" "pathogenic" "" "0000116720" "0" "57" "1" "161310418" "161310418" "subst" "1.23091E-5" "01713" "SDHC_000008" "g.161310418C>T" "" "{PMID:Burnichon:19454582}" "" "p.Arg72Cys" "" "Germline" "" "" "0" "" "" "g.161340628C>T" "" "pathogenic" "" "0000116721" "0" "57" "1" "161310419" "161310419" "subst" "8.20661E-6" "01713" "SDHC_000037" "g.161310419G>A" "" "{PMID:Burnichon:19454582}" "" "p.Arg72His" "" "Germline" "" "" "0" "" "" "g.161340629G>A" "" "likely pathogenic" "" "0000116722" "0" "99" "1" "161310422" "161310423" "ins" "0" "01713" "SDHC_000028" "g.161310422_161310423insA" "" "{PMID:Neumann:19351833}" "" "p.Thr74HisfsX24" "" "Germline" "" "" "0" "" "" "g.161340632_161340633insA" "" "pathogenic" "" "0000116723" "0" "97" "1" "161310428" "161310428" "subst" "0" "01713" "SDHC_000029" "g.161310428G>A" "" "{PMID:Neumann:19351833}" "" "" "" "Germline" "" "" "0" "" "" "g.161340638G>A" "" "pathogenic" "" "0000116724" "0" "55" "1" "161310445" "161310445" "subst" "0" "01713" "SDHC_000039" "g.161310445G>C" "" "{PMID:Burnichon:19454582}" "" "p.Gly81Arg" "" "Germline" "" "" "0" "" "" "g.161340655G>C" "" "VUS" "" "0000116725" "0" "53" "1" "161310519" "161310519" "subst" "0" "01713" "SDHC_000038" "g.161310519C>T" "" "{PMID:Burnichon:19454582}" "" "c.242+74C>T" "Allelic freq: controls 16/200; patients 62/428" "Germline" "" "rs9970904" "0" "" "" "g.161340729C>T" "" "VUS" "" "0000116726" "0" "99" "1" "161326226" "161334201" "del" "0" "01713" "SDHC_000044" "g.161326226_161334201del" "" "{PMID:Bayley:19546167}" "" "Deletion Exon 5 & 6" "" "Germline" "" "" "0" "" "" "g.161356436_161364411del" "" "pathogenic" "" "0000116727" "0" "59" "1" "161326466" "161326631" "del" "0" "01713" "SDHC_000031" "g.(161310446_161326466)_(161326631_161332118)del" "" "{PMID:Neumann:19351833}" "" "Deletion Exon 5" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000116728" "0" "35" "1" "161326469" "161326469" "subst" "4.10627E-6" "01713" "SDHC_000021" "g.161326469G>T" "3/1020" "{PMID:López-Jiménez:18681855}" "" "" "SNP in healthy controls" "Germline" "" "" "0" "" "" "g.161356679G>T" "" "VUS" "" "0000116729" "0" "75" "1" "161326478" "161326480" "dup" "0" "01713" "SDHC_000020" "g.161326478_161326480dup" "" "{PMID:López-Jiménez:18681855}" "" "" "Predicted splicing defect (in-silico)" "Germline" "" "" "0" "" "" "g.161356688_161356690dup" "" "VUS" "" "0000116730" "0" "55" "1" "161326478" "161326480" "dup" "0" "01713" "SDHC_000020" "g.161326478_161326480dup" "" "{PMID:Burnichon:19454582}" "" "p.Phe85dup" "" "Germline" "" "" "0" "" "" "g.161356688_161356690dup" "" "VUS" "" "0000116731" "0" "59" "1" "161326622" "161326622" "subst" "3.28178E-5" "01713" "SDHC_000015" "g.161326622C>T" "" "{PMID:Zbuk:17898811}" "" "" "" "Germline" "" "" "0" "" "" "g.161356832C>T" "" "pathogenic" "" "0000116732" "0" "59" "1" "161326622" "161326622" "subst" "3.28178E-5" "01713" "SDHC_000015" "g.161326622C>T" "" "{PMID:Burnichon:19454582}" "" "p.Arg133X" "" "Germline" "" "" "0" "" "" "g.161356832C>T" "" "pathogenic" "" "0000116733" "0" "57" "1" "161326631" "161326631" "subst" "0" "01713" "SDHC_000014" "g.161326631G>A" "" "{PMID:Pasini:17667967}" "" "IVS5" "" "Germline" "" "" "0" "" "" "g.161356841G>A" "" "likely pathogenic" "" "0000116734" "0" "57" "1" "161326631" "161326631" "subst" "8.20405E-6" "01713" "SDHC_000002" "g.161326631G>T" "" "{PMID:Niemann:12658451 }, {PMID:Schiavi:16249420}" "" "(IVS5), G->T+1 Intron 5, 405+1 G/T" "aberrant splicing" "Germline" "" "" "0" "" "" "g.161356841G>T" "" "likely pathogenic" "" "0000116735" "0" "55" "1" "161326655" "161326655" "subst" "2.051E-5" "01043" "SDHC_000018" "g.161326655T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.161356865T>C" "" "VUS" "" "0000116736" "0" "53" "1" "161326714" "161326714" "subst" "0" "01713" "SDHC_000041" "g.161326714G>C" "" "{PMID:Burnichon:19454582}" "" "c.510+84G>C" "Allelic freq: controls 0/200; patients 1/422" "Germline" "" "" "0" "" "" "g.161356924G>C" "" "VUS" "" "0000116737" "1" "59" "1" "161331619" "161339990" "delins" "0" "01713" "SDHC_000003" "g.161331619_161339990delinsGTCA" "" "{PMID:Baysal 2004:15342702}, {OMIM602413:0003}" "" "8372 base-pair deletion spanning exon 6" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000116738" "1" "55" "1" "161332152" "161332152" "subst" "0" "01713" "SDHC_000009" "g.161332152C>T" "" "{PMID:Schiavi:16249420}" "" "439 C/T, Q147X" "" "Germline" "" "" "0" "" "" "g.161362362C>T" "" "pathogenic" "" "0000116739" "1" "57" "1" "161332186" "161332186" "subst" "0" "01713" "SDHC_000004" "g.161332186T>C" "" "{PMID:Bauters:12807974}" "" "c.473T>C, L158P" "" "Germline" "" "" "0" "" "" "g.161362396T>C" "" "likely pathogenic" "" "0000116740" "0" "55" "1" "161332186" "161332186" "subst" "0" "01713" "SDHC_000004" "g.161332186T>C" "" "{PMID:Burnichon:19454582}" "" "p.Leu158Pro" "" "Germline" "" "" "0" "" "" "g.161362396T>C" "" "VUS" "" "0000116741" "0" "77" "1" "161332210" "161332210" "subst" "0" "01655" "SDHC_000046" "g.161332210T>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.161362420T>G" "" "likely pathogenic" "" "0000128283" "1" "53" "1" "161284203" "161284203" "subst" "1.62617E-5" "01713" "SDHC_000064" "g.161284203C>T" "" "{PMID:Lefebvre:22517554}" "" "" "" "Unknown" "" "" "0" "" "" "g.161314413C>T" "" "likely benign" "" "0000128284" "1" "50" "1" "161284201" "161284201" "del" "0" "01713" "SDHC_000063" "g.161284201del" "" "{PMID:Miettinen:23282968}" "" "" "" "Unknown" "" "" "0" "" "" "g.161314411del" "" "pathogenic" "" "0000128285" "1" "50" "1" "161284078" "161284079" "del" "0" "01713" "SDHC_000062" "g.161284078_161284079del" "" "{PMID:Rattenberry:23666964}" "" "c.[-118_-117delAG];[=]" "VUS" "Unknown" "" "" "0" "" "" "g.161314288_161314289del" "" "VUS" "" "0000128286" "1" "50" "1" "161293432" "161293432" "del" "0" "01713" "SDHC_000066" "g.161293432del" "" "{PMID:Buffet:22517557}" "" "" "" "Unknown" "" "" "0" "" "" "g.161323642del" "" "pathogenic" "" "0000128287" "1" "50" "1" "161293451" "161293451" "del" "0" "01713" "SDHC_000067" "g.161293451del" "" "{PMID:Buffet:22517557}" "" "" "" "Unknown" "" "" "0" "" "" "g.161323661del" "" "pathogenic" "" "0000128288" "1" "50" "1" "161293462" "161293462" "dup" "0" "01713" "SDHC_000049" "g.161293462dup" "" "{PMID:Buffet:22517557}" "" "c.[77+2dupT];[=]" "abnormal mRNA exon 2 skipping, UK, Pathogenic" "Unknown" "" "" "0" "" "" "g.161323672dup" "" "VUS" "" "0000128289" "1" "50" "1" "161298185" "161298288" "del" "0" "01713" "SDHC_000068" "g.(161293461_161298185)_(161298288_161310383)del" "" "{PMID:Buffet:22517557}" "" "" "Deletion of exon 3" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000128290" "1" "50" "1" "161293403" "161298288" "del" "0" "01713" "SDHC_000065" "g.(161284216_161293403)_(161298288_161310383)del" "" "{PMID:Else:24758179}" "" "c.20-? 180-?del" "Deletion of chromosome 3 & 4" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000128291" "1" "50" "1" "161298262" "161298263" "del" "0" "01713" "SDHC_000050" "g.161298262_161298263del" "" "{PMID:Fruhmann:23433498}" "" "" "" "Unknown" "" "" "0" "" "" "g.161328472_161328473del" "" "pathogenic" "" "0000128292" "1" "50" "1" "161298256" "161298256" "subst" "0" "01713" "SDHC_000024" "g.161298256C>T" "" "{PMID:Rattenberry:23666964}" "" "c.[148C>T];[=]" "" "Unknown" "" "" "0" "" "" "g.161328466C>T" "" "likely pathogenic" "" "0000128293" "1" "57" "1" "161310418" "161310418" "subst" "0" "01713" "SDHC_000051" "g.161310418C>G" "" "{PMID:Else:24758179}" "" "" "" "Unknown" "" "" "0" "" "" "g.161340628C>G" "" "pathogenic" "" "0000128294" "1" "59" "1" "161326605" "161326605" "subst" "0" "01713" "SDHC_000055" "g.161326605A>G" "" "{PMID:Miettinen:23282968}, {PMID:Rattenberry:23666964}, {PMID:Dénes:25494863}, {PMID:Gill:24150194}" "" "c.[380A>G];[=]" "Ultra conserved AA. Found in numerous bacteria. Variant reported in 11 individual patients worldwide." "Unknown" "" "" "0" "" "" "g.161356815A>G" "" "pathogenic" "" "0000128295" "1" "57" "1" "161326604" "161326604" "subst" "0" "01713" "SDHC_000054" "g.161326604C>T" "" "{PMID:Buffet:22517557}" "" "" "Align GVGD: Class C65" "Unknown" "" "" "0" "" "" "g.161356814C>T" "" "likely pathogenic" "" "0000128296" "1" "53" "1" "161326553" "161326553" "subst" "4.10267E-6" "01713" "SDHC_000053" "g.161326553C>T" "" "{PMID:Crona:3899286}" "" "" "VUS" "Unknown" "" "" "0" "" "" "g.161356763C>T" "" "likely benign" "" "0000128297" "1" "50" "1" "161326631" "161326631" "subst" "0" "01713" "SDHC_000056" "g.161326631G>C" "" "{PMID:Else:24758179}" "" "" "" "Unknown" "" "" "0" "" "" "g.161356841G>C" "" "likely pathogenic" "" "0000128298" "1" "50" "1" "161326653" "161326653" "subst" "0.000258428" "01713" "SDHC_000057" "g.161326653C>T" "" "{PMID:Iacobone:22136840}" "" "" "" "Unknown" "" "" "0" "" "" "g.161356863C>T" "" "VUS" "" "0000128299" "1" "50" "1" "161326445" "161326445" "subst" "4.10708E-6" "01713" "SDHC_000052" "g.161326445A>G" "" "{PMID:Lefebvre:22517554}" "" "" "Normal cDNA sequences" "Unknown" "" "" "0" "" "" "g.161356655A>G" "" "VUS" "" "0000128300" "1" "53" "1" "161332203" "161332203" "subst" "0.000553833" "01713" "SDHC_000061" "g.161332203A>T" "" "{PMID:Crona:3899286}" "" "" "VUS" "Unknown" "" "" "0" "" "" "g.161362413A>T" "" "likely benign" "" "0000128301" "1" "57" "1" "161332132" "161332132" "subst" "0" "01713" "SDHC_000058" "g.161332132G>A" "" "{PMID:Lefebvre:22517554}" "" "" "" "Unknown" "" "" "0" "" "" "g.161362342G>A" "" "likely pathogenic" "" "0000128302" "1" "53" "1" "161332194" "161332194" "subst" "0" "01713" "SDHC_000060" "g.161332194T>G" "" "{PMID:Lefebvre:22517554}" "" "" "" "Unknown" "" "" "0" "" "" "g.161362404T>G" "" "likely benign" "" "0000128303" "1" "57" "1" "161332168" "161332168" "subst" "0" "01713" "SDHC_000059" "g.161332168G>C" "" "{PMID:Pantaleo:23612575}" "" "" "GIST" "Unknown" "" "" "0" "" "" "g.161362378G>C" "" "likely pathogenic" "" "0000128304" "1" "50" "1" "161326604" "161326604" "subst" "0" "01713" "SDHC_000054" "g.161326604C>T" "" "{PMID:Else:24758179}" "" "c.379C>T,p.His127Tyr" "" "Unknown" "" "" "0" "" "" "g.161356814C>T" "" "likely pathogenic" "" "0000150746" "0" "77" "1" "161284201" "161284201" "del" "0" "01713" "SDHC_000063" "g.161284201del" "" "{PMID:Boikos:4929866}" "" "" "SDHB IHC Neg, SDHA IHC Pos. Carney triad with ganglioneuroma" "Unknown" "?" "" "0" "" "" "g.161314411del" "" "likely pathogenic" "" "0000150747" "0" "77" "1" "161310428" "161310428" "subst" "0" "01713" "SDHC_000029" "g.161310428G>A" "" "{PMID:Boikos:4929866}" "" "" "SDHB IHC Neg" "Unknown" "?" "" "0" "" "" "g.161340638G>A" "" "likely pathogenic" "" "0000150748" "0" "77" "1" "161326631" "161326631" "subst" "0" "01713" "SDHC_000014" "g.161326631G>A" "" "{PMID:Boikos:4929866}" "" "" "SDHB IHC Neg, SDHA IHC Pos" "Unknown" "?" "" "0" "" "" "g.161356841G>A" "" "likely pathogenic" "" "0000248466" "0" "10" "1" "161326498" "161326498" "subst" "0" "02325" "SDHC_000071" "g.161326498A>G" "" "" "" "SDHC(NM_003001.5):c.273A>G (p.L91=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161356708A>G" "" "benign" "" "0000249489" "0" "30" "1" "161293463" "161293463" "subst" "1.66087E-5" "02325" "SDHC_000069" "g.161293463A>G" "" "" "" "SDHC(NM_003001.5):c.77+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161323673A>G" "" "likely benign" "" "0000250382" "0" "30" "1" "161332203" "161332203" "subst" "0.000553833" "02329" "SDHC_000061" "g.161332203A>T" "" "" "" "SDHC(NM_001035511.1):c.326A>T (p.(Tyr109Phe)), SDHC(NM_003001.5):c.490A>T (p.M164L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161362413A>T" "" "likely benign" "" "0000279893" "0" "10" "1" "161279672" "161279672" "subst" "0.000243495" "02330" "MPZ_000195" "g.161279672G>A" "" "" "" "MPZ(NM_000530.8):c.24C>T (p.S8=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161309882G>A" "" "benign" "" "0000279945" "0" "90" "1" "161279637" "161279637" "subst" "5.13838E-6" "02330" "MPZ_000002" "g.161279637G>A" "" "" "" "MPZ(NM_000530.8):c.59C>T (p.S20F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161309847G>A" "" "pathogenic" "" "0000298077" "0" "10" "1" "161284226" "161284227" "dup" "0" "02325" "SDHC_000032" "g.161284226_161284227dup" "" "" "" "SDHC(NM_003001.5):c.20+13delGinsTGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161314436_161314437dup" "" "benign" "" "0000298078" "0" "33" "1" "161326520" "161326520" "subst" "0" "02325" "SDHC_000072" "g.161326520T>A" "" "" "" "SDHC(NM_003001.5):c.295T>A (p.Y99N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161356730T>A" "" "likely benign" "" "0000298079" "0" "30" "1" "161326531" "161326531" "subst" "0" "02325" "SDHC_000073" "g.161326531T>C" "" "" "" "SDHC(NM_003001.5):c.306T>C (p.L102=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161356741T>C" "" "likely benign" "" "0000298080" "0" "33" "1" "161326532" "161326532" "subst" "0" "02325" "SDHC_000074" "g.161326532G>C" "" "" "" "SDHC(NM_003001.5):c.307G>C (p.V103L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161356742G>C" "" "likely benign" "" "0000298081" "0" "30" "1" "161326585" "161326585" "subst" "0" "02325" "SDHC_000075" "g.161326585T>C" "" "" "" "SDHC(NM_003001.5):c.360T>C (p.L120=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161356795T>C" "" "likely benign" "" "0000298082" "0" "10" "1" "161332104" "161332105" "del" "0" "02325" "SDHC_000076" "g.161332104_161332105del" "" "" "" "SDHC(NM_001035511.1):c.242-15_242-14del (p.(=)), SDHC(NM_003001.5):c.406-15_406-14delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161362314_161362315del" "" "benign" "" "0000298083" "0" "30" "1" "161332301" "161332301" "subst" "0.00169684" "02325" "SDHC_000080" "g.161332301G>A" "" "" "" "SDHC(NM_001035511.3):c.424G>A (p.A142T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161362511G>A" "" "likely benign" "" "0000298084" "0" "30" "1" "161298167" "161298167" "subst" "0.000162459" "02325" "SDHC_000070" "g.161298167C>T" "" "" "" "SDHC(NM_003001.5):c.78-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161328377C>T" "" "likely benign" "" "0000299388" "0" "10" "1" "161332106" "161332106" "subst" "0" "02329" "SDHC_000078" "g.161332106G>T" "" "" "" "SDHC(NM_003001.5):c.406-13G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161362316G>T" "" "benign" "" "0000299389" "0" "30" "1" "161332105" "161332106" "del" "0" "02329" "SDHC_000077" "g.161332105_161332106del" "" "" "" "SDHC(NM_003001.5):c.406-14_406-13delTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161362315_161362316del" "" "likely benign" "" "0000299390" "0" "10" "1" "161332111" "161332111" "subst" "0" "02329" "SDHC_000079" "g.161332111G>T" "" "" "" "SDHC(NM_003001.5):c.406-8G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161362321G>T" "" "benign" "" "0000302017" "0" "90" "1" "161326631" "161326631" "subst" "8.20405E-6" "02326" "SDHC_000002" "g.161326631G>T" "" "" "" "SDHC(NM_003001.3):c.405+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161356841G>T" "" "pathogenic" "" "0000337311" "0" "10" "1" "161284297" "161284297" "subst" "0" "02327" "SDHC_000033" "g.161284297T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161314507T>C" "" "benign" "" "0000339507" "0" "10" "1" "161284158" "161284158" "subst" "0.0038977" "02327" "MPZ_000214" "g.161284158G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161314368G>A" "" "benign" "" "0000339509" "0" "10" "1" "161326579" "161326579" "subst" "0.00104599" "02327" "SDHC_000085" "g.161326579T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161356789T>C" "" "benign" "" "0000349114" "0" "75" "1" "161298287" "161298287" "subst" "0" "02327" "SDHC_000082" "g.161298287G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161328497G>T" "" "likely pathogenic" "" "0000349138" "0" "77" "1" "161310406" "161310406" "subst" "0" "02327" "SDHC_000083" "g.161310406T>C" "" "" "" "SDHC(NM_003001.3):c.202T>C (p.(Ser68Pro)), SDHC(NM_003001.5):c.202T>C (p.S68P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161340616T>C" "" "likely pathogenic" "" "0000500522" "0" "90" "1" "161326622" "161326622" "subst" "3.28178E-5" "00643" "SDHC_000015" "g.161326622C>T" "" "{PMID:Fostira 2020:31300551}" "" "" "" "Germline" "" "" "0" "" "" "g.161356832C>T" "" "pathogenic" "" "0000504013" "0" "30" "1" "161279711" "161279716" "dup" "0" "02330" "MPZ_000213" "g.161279711_161279716dup" "" "" "" "MPZ(NM_000530.8):c.-10_-5dupTGCCCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161309921_161309926dup" "" "likely benign" "" "0000504014" "0" "53" "1" "161293414" "161293414" "subst" "0" "02329" "SDHC_000086" "g.161293414C>T" "" "" "" "SDHC(NM_003001.5):c.31C>T (p.R11C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161323624C>T" "" "VUS" "" "0000504015" "0" "30" "1" "161298228" "161298228" "subst" "0.000365456" "02327" "SDHC_000087" "g.161298228G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161328438G>A" "" "likely benign" "" "0000504016" "0" "50" "1" "161310406" "161310406" "subst" "0" "02329" "SDHC_000083" "g.161310406T>C" "" "" "" "SDHC(NM_003001.3):c.202T>C (p.(Ser68Pro)), SDHC(NM_003001.5):c.202T>C (p.S68P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161340616T>C" "" "VUS" "" "0000504017" "0" "30" "1" "161326643" "161326643" "subst" "8.61482E-5" "02327" "SDHC_000088" "g.161326643G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161356853G>A" "" "likely benign" "" "0000504019" "0" "10" "1" "161332107" "161332107" "subst" "0" "02329" "SDHC_000090" "g.161332107C>T" "" "" "" "SDHC(NM_003001.5):c.406-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161362317C>T" "" "benign" "" "0000504021" "0" "30" "1" "161332113" "161332113" "subst" "0" "01804" "SDHC_000091" "g.161332113C>T" "" "" "" "SDHC(NM_001035511.1):c.242-6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161362323C>T" "" "likely benign" "" "0000504023" "0" "50" "1" "161332186" "161332186" "subst" "0" "02327" "SDHC_000004" "g.161332186T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161362396T>C" "" "VUS" "" "0000504024" "0" "50" "1" "161332241" "161332241" "subst" "1.25738E-5" "01943" "SDHC_000093" "g.161332241C>T" "" "" "" "SDHC(NM_001035511.1):c.364C>T (p.H122Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161362451C>T" "" "VUS" "" "0000504025" "0" "10" "1" "161332307" "161332307" "subst" "0.00534628" "01804" "SDHC_000094" "g.161332307G>C" "" "" "" "SDHC(NM_001035511.1):c.430G>C (p.(Glu144Gln)), SDHC(NM_001035511.2):c.430G>C (p.E144Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161362517G>C" "" "benign" "" "0000604953" "0" "30" "1" "161326642" "161326642" "subst" "2.87144E-5" "02327" "SDHC_000095" "g.161326642C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161356852C>T" "" "likely benign" "" "0000675523" "0" "30" "1" "161284203" "161284203" "subst" "1.62617E-5" "02327" "SDHC_000064" "g.161284203C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716949" "0" "30" "1" "161298167" "161298167" "subst" "0.000162459" "02329" "SDHC_000070" "g.161298167C>T" "" "" "" "SDHC(NM_003001.5):c.78-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716950" "0" "57" "1" "161326615" "161326615" "subst" "0" "02327" "SDHC_000096" "g.161326615T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000798879" "0" "30" "1" "161284189" "161284189" "subst" "0" "02327" "MPZ_000233" "g.161284189A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848362" "0" "90" "1" "161279688" "161279694" "del" "0" "02330" "MPZ_000236" "g.161279688_161279694del" "" "" "" "MPZ(NM_000530.8):c.5_11delCTCCTGG (p.A2Gfs*43)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000848363" "0" "30" "1" "161298167" "161298167" "subst" "0.000162459" "02327" "SDHC_000070" "g.161298167C>T" "" "" "" "SDHC(NM_003001.5):c.78-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848364" "0" "10" "1" "161332307" "161332307" "subst" "0.00534628" "02369" "SDHC_000094" "g.161332307G>C" "" "" "" "SDHC(NM_001035511.1):c.430G>C (p.(Glu144Gln)), SDHC(NM_001035511.2):c.430G>C (p.E144Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000918368" "0" "99" "1" "161284196" "161284196" "subst" "0" "01713" "SDHC_000097" "g.161284196A>T" "" "{PMID:Andrews:29386252}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000918370" "0" "99" "1" "161326570" "161326570" "dup" "0" "01713" "SDHC_000098" "g.161326570dup" "" "{PMID:Andrews:29386252}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000918371" "0" "99" "1" "161326603" "161326603" "subst" "0" "01713" "SDHC_000099" "g.161326603T>G" "" "{PMID:Andrews:29386252}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000918373" "0" "77" "1" "161284216" "161284216" "subst" "0" "01713" "SDHC_000100" "g.161284216G>T" "" "{PMID:Bayley:31492822}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000918374" "0" "99" "1" "161332139" "161332149" "del" "0" "01713" "SDHC_000101" "g.161332139_161332149del" "" "{PMID:Bayley:31492822}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000922993" "0" "30" "1" "161332203" "161332203" "subst" "0.000553833" "01804" "SDHC_000061" "g.161332203A>T" "" "" "" "SDHC(NM_001035511.1):c.326A>T (p.(Tyr109Phe)), SDHC(NM_003001.5):c.490A>T (p.M164L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928053" "0" "10" "1" "161334023" "161334023" "subst" "0" "01804" "SDHC_000102" "g.161334023G>C" "" "" "" "SDHC(NM_001035511.1):c.*1693G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000947025" "0" "30" "1" "161332105" "161332105" "dup" "0" "02329" "SDHC_000103" "g.161332105dup" "" "" "" "SDHC(NM_003001.5):c.406-14dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973429" "0" "30" "1" "161332105" "161332105" "del" "0" "02329" "SDHC_000089" "g.161332105del" "" "" "" "SDHC(NM_003001.5):c.406-14delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990488" "0" "50" "1" "161279713" "161279713" "subst" "0" "01804" "MPZ_000244" "g.161279713G>A" "" "" "" "MPZ(NM_000530.6):c.-18C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990489" "0" "70" "1" "161310406" "161310406" "subst" "0" "01804" "SDHC_000083" "g.161310406T>C" "" "" "" "SDHC(NM_003001.3):c.202T>C (p.(Ser68Pro)), SDHC(NM_003001.5):c.202T>C (p.S68P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000990490" "0" "10" "1" "161332104" "161332105" "del" "0" "01804" "SDHC_000076" "g.161332104_161332105del" "" "" "" "SDHC(NM_001035511.1):c.242-15_242-14del (p.(=)), SDHC(NM_003001.5):c.406-15_406-14delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000990491" "0" "30" "1" "161332301" "161332301" "subst" "0.00169684" "02327" "SDHC_000080" "g.161332301G>A" "" "" "" "SDHC(NM_001035511.3):c.424G>A (p.A142T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990492" "0" "10" "1" "161332307" "161332307" "subst" "0.00534628" "02327" "SDHC_000094" "g.161332307G>C" "" "" "" "SDHC(NM_001035511.1):c.430G>C (p.(Glu144Gln)), SDHC(NM_001035511.2):c.430G>C (p.E144Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001024057" "0" "50" "1" "161298193" "161298193" "subst" "0" "02327" "SDHC_000104" "g.161298193C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047079" "0" "10" "1" "161293496" "161293496" "subst" "0" "03779" "SDHC_000012" "g.161293496T>A" "" "" "" "" "" "Unknown" "" "rs117507008" "0" "" "" "" "" "benign" "" "0001047184" "0" "30" "1" "161326666" "161326666" "subst" "4.51267E-5" "03779" "SDHC_000106" "g.161326666A>G" "" "" "" "" "" "Unknown" "" "rs553800744" "0" "" "" "" "" "likely benign" "" "0001047196" "0" "30" "1" "161332307" "161332307" "subst" "0.00534628" "03779" "SDHC_000094" "g.161332307G>C" "" "" "" "" "" "Unknown" "" "rs201210474" "0" "" "" "" "" "likely benign" "" "0001047222" "0" "90" "1" "161293426" "161293426" "subst" "8.20748E-6" "03779" "SDHC_000013" "g.161293426C>T" "" "" "" "" "" "Unknown" "" "rs201286421" "0" "" "" "" "" "pathogenic" "" "0001047252" "0" "50" "1" "161326592" "161326592" "subst" "2.87147E-5" "03779" "SDHC_000105" "g.161326592C>T" "" "" "" "" "" "Unknown" "" "rs773039986" "0" "" "" "" "" "VUS" "" "0001048025" "0" "10" "1" "161326734" "161326734" "dup" "0" "03779" "SDHC_000107" "g.161326734dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "benign" "" "0001048200" "0" "70" "1" "161310446" "161310446" "subst" "0" "03779" "chr1_017998" "g.161310446G>T" "" "" "" "" "" "Unknown" "" "rs748440817" "0" "" "" "" "" "likely pathogenic" "" "0001048381" "0" "30" "1" "161332105" "161332105" "dup" "0" "03779" "SDHC_000103" "g.161332105dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SDHC ## Count = 143 "{{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}}" "{{VariantOnTranscript/SIFT}}" "{{VariantOnTranscript/Consequence/Predicted}}" "{{VariantOnTranscript/Predict/MutationTaster}}" "{{VariantOnTranscript/Predict/AGVGD}}" "0000064204" "00018577" "33" "436" "0" "436" "0" "c.436C>A" "r.(?)" "p.(Pro146Thr)" "" "0.49" "missense" "0.211" "37.56" "0000076127" "00018577" "90" "397" "0" "397" "0" "c.397C>T" "r.(?)" "p.(Arg133*)" "5" "" "" "" "" "0000116690" "00018577" "51" "-12" "0" "-12" "0" "c.-12C>T" "r.(=)" "p.(=)" "1" "" "" "" "" "0000116691" "00018577" "59" "-30" "0" "20" "1" "c.(?_-30)_(20+1_21-1)del" "r.spl?" "p.?" "_1" "" "deletion, large" "" "" "0000116692" "00018577" "59" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "1" "" "nonsense" "" "" "0000116693" "00018577" "59" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "1" "" "nonsense" "" "" "0000116694" "00018577" "99" "2" "0" "2" "0" "c.2T>A" "r.(?)" "p.(Met1?)" "1" "" "nonsense" "" "" "0000116695" "00018577" "95" "2" "0" "2" "0" "c.2T>A" "r.(?)" "p.(Met1?)" "1" "" "" "" "" "0000116696" "00018577" "59" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.(Met1?)" "1" "" "nonsense" "" "" "0000116697" "00018577" "57" "20" "2" "20" "2" "c.20+2T>G" "r.spl?" "p.?" "1i" "" "splicing affected?" "" "" "0000116698" "00018577" "51" "20" "11" "20" "12" "c.20+11_20+12dup" "r.(=)" "p.(=)" "1i" "" "" "" "" "0000116699" "00018577" "11" "20" "13" "20" "14" "c.20+13_20+14insTG" "r.(=)" "p.(=)" "1i" "" "" "" "" "0000116700" "00018577" "53" "20" "82" "20" "82" "c.20+82T>C" "r.(=)" "p.(=)" "1i" "" "" "" "" "0000116701" "00018577" "53" "21" "-96" "21" "-96" "c.21-96C>T" "r.(=)" "p.(=)" "1i" "" "" "" "" "0000116702" "00018577" "57" "21" "-2" "21" "-2" "c.21-2A>C" "r.spl?" "p.(=)" "1i" "" "" "" "" "0000116703" "00018577" "59" "78" "-1" "221" "-1" "c.(220+1_221-1)_(77+1_78-1)del" "r.?" "p.?" "1i_2i" "" "deletion, large" "" "" "0000116704" "00018577" "99" "23" "0" "23" "0" "c.23dup" "r.(?)" "p.(His8Glnfs*12)" "2" "" "nonsense" "" "" "0000116705" "00018577" "59" "39" "0" "39" "0" "c.39C>A" "r.(?)" "p.(Cys13*)" "2" "" "nonsense" "" "" "0000116706" "00018577" "79" "43" "0" "43" "0" "c.43C>T" "r.(?)" "p.(Arg15*)" "2" "" "" "" "" "0000116707" "00018577" "59" "43" "0" "43" "0" "c.43C>T" "r.(?)" "p.(Arg15*)" "2" "" "nonsense" "" "" "0000116708" "00018577" "13" "77" "36" "77" "36" "c.77+36T>A" "r.(=)" "p.(=)" "2i" "" "" "" "" "0000116709" "00018577" "59" "78" "-2" "78" "-2" "c.78-2A>G" "r.spl?" "p.(=)" "2i" "" "splicing affected?" "" "" "0000116710" "00018577" "59" "126" "0" "126" "0" "c.126G>A" "r.(?)" "p.(Trp42*)" "3" "" "nonsense" "" "" "0000116711" "00018577" "93" "128" "0" "128" "0" "c.128A>G" "r.(?)" "p.(Asn43Ser)" "3" "0.29" "missense" "0.217" "46.24" "0000116712" "00018577" "53" "166" "0" "166" "0" "c.166A>T" "r.(?)" "p.(Ile56Phe)" "3" "0.08" "missense" "0.600" "21.28" "0000116713" "00018577" "97" "173" "0" "173" "0" "c.173T>C" "r.(?)" "p.(Ile58Thr)" "3" "0.02" "missense" "0.962" "89.28" "0000116714" "00018577" "97" "148" "0" "148" "0" "c.148C>T" "r.(?)" "p.(Arg50Cys)" "3" "0.00" "missense" "0.976" "179.53" "0000116715" "00018577" "59" "180" "-1" "2828" "0" "c.(179+1_180-1)_(*2318_?)del" "r.spl?" "p.?" "3i_6" "" "deletion, large" "" "" "0000116716" "00018577" "79" "183" "0" "183" "0" "c.183G>A" "r.(?)" "p.(Trp61*)" "4" "" "nonsense" "" "" "0000116717" "00018577" "53" "197" "0" "197" "0" "c.197C>T" "r.(?)" "p.(Ala66Val)" "4" "0.86" "missense" "0.585" "64.43" "0000116718" "00018577" "97" "210" "0" "210" "0" "c.210C>G" "r.(?)" "p.(Cys70Trp)" "4" "0.01" "missense" "0.780" "214.36" "0000116719" "00018577" "99" "214" "0" "214" "0" "c.214C>T" "r.(?)" "p.(Arg72Cys)" "4" "0.00" "missense" "0.950" "179.53" "0000116720" "00018577" "57" "214" "0" "214" "0" "c.214C>T" "r.(?)" "p.(Arg72Cys)" "4" "" "" "" "" "0000116721" "00018577" "57" "215" "0" "215" "0" "c.215G>A" "r.(?)" "p.(Arg72His)" "4" "0.00" "missense" "0.965" "28.82" "0000116722" "00018577" "99" "218" "0" "219" "0" "c.218_219insA" "r.(?)" "p.(Thr74Hisfs*24)" "4" "" "nonsense" "" "" "0000116723" "00018577" "97" "224" "0" "224" "0" "c.224G>A" "r.(?)" "p.(Gly75Asp)" "4" "0.00" "missense" "0.968" "93.77" "0000116724" "00018577" "55" "241" "0" "241" "0" "c.241G>C" "r.(?)" "p.(Gly81Arg)" "4" "0.12" "missense" "0.900" "125.13" "0000116725" "00018577" "53" "241" "74" "241" "74" "c.241+74C>T" "r.(=)" "p.(=)" "4i" "" "" "" "" "0000116726" "00018577" "99" "242" "-241" "2488" "0" "c.242-241_*1978del" "r.spl?" "p.?" "4i_6" "" "deletion, large" "" "" "0000116727" "00018577" "59" "242" "-1" "405" "1" "c.(241+1_242-1)_(405+1_406-1)del" "r.spl?" "p.?" "4i_5i" "" "deletion, large" "" "" "0000116728" "00018577" "35" "244" "0" "244" "0" "c.244G>T" "r.(?)" "p.(Val82Phe)" "5" "0.01" "missense" "0.717" "49.94" "0000116729" "00018577" "75" "253" "0" "255" "0" "c.253_255dup" "r.(?)" "p.(Phe85dup)" "5" "" "" "" "" "0000116730" "00018577" "55" "253" "0" "255" "0" "c.253_255dup" "r.(?)" "p.(Phe85dup)" "5" "" "" "" "" "0000116731" "00018577" "59" "397" "0" "397" "0" "c.397C>T" "r.(?)" "p.(Arg133*)" "5" "" "nonsense" "" "" "0000116732" "00018577" "59" "397" "0" "397" "0" "c.397C>T" "r.(?)" "p.(Arg133*)" "5" "" "nonsense" "" "" "0000116733" "00018577" "57" "405" "1" "405" "1" "c.405+1G>A" "r.spl?" "p.(=)" "5i" "" "splicing affected?" "" "" "0000116734" "00018577" "57" "405" "1" "405" "1" "c.405+1G>T" "r.spl?" "p.(=)" "5i" "" "splicing affected?" "" "" "0000116735" "00018577" "55" "405" "25" "405" "25" "c.405+25T>C" "r.(=)" "p.(=)" "5i" "" "" "" "" "0000116736" "00018577" "53" "405" "84" "405" "84" "c.405+84G>C" "r.(=)" "p.(=)" "5i" "" "" "" "" "0000116737" "00018577" "59" "0" "0" "0" "0" "c.406-500_*2318{0}insGTCA" "r.?" "p.?" "5i_6_" "" "deletion, large" "" "" "0000116738" "00018577" "55" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Gln147*)" "6" "" "nonsense" "" "" "0000116739" "00018577" "57" "473" "0" "473" "0" "c.473T>C" "r.(?)" "p.(Leu158Pro)" "6" "0.03" "missense" "0.912" "97.78" "0000116740" "00018577" "55" "473" "0" "473" "0" "c.473T>C" "r.(?)" "p.(Leu158Pro)" "6" "" "" "" "" "0000116741" "00018577" "77" "497" "0" "497" "0" "c.497T>G" "r.(?)" "p.(Leu166Arg)" "6" "0.00" "missense" "0.923" "101.88" "0000128283" "00018577" "53" "8" "0" "8" "0" "c.8C>T" "r.(?)" "p.(Ala3Val)" "1" "0.03" "missense" "0.612" "64.43" "0000128284" "00018577" "50" "6" "0" "6" "0" "c.6del" "r.(?)" "p.(Ala3Argfs*4)" "1" "" "nonsense" "" "" "0000128285" "00018577" "50" "-118" "0" "-117" "0" "c.-118_-117del" "r.(=)" "p.(=)" "1" "" "" "" "" "0000128286" "00018577" "50" "49" "0" "49" "0" "c.49del" "r.(?)" "p.(His17Thrfs*30)" "2" "" "nonsense" "" "" "0000128287" "00018577" "50" "68" "0" "68" "0" "c.68del" "r.(?)" "p.(Cys23Leufs*24)" "2" "" "nonsense" "" "" "0000128288" "00018577" "50" "77" "2" "77" "2" "c.77+2dup" "r.spl?" "p.(=)" "2i" "" "splicing affected?" "" "" "0000128289" "00018577" "50" "78" "-1" "179" "1" "c.(77+1_78-1)_(179+1_180-1)del" "?" "?" "2i_3i" "" "deletion, large" "" "" "0000128290" "00018577" "50" "21" "-1" "179" "1" "c.(20+1_21-1)_(179+1_180-1)del" "?" "?" "1i_3i" "" "deletion, large" "" "" "0000128291" "00018577" "50" "154" "0" "155" "0" "c.154_155del" "r.(?)" "p.(Leu52Valfs*45)" "3" "" "nonsense" "" "" "0000128292" "00018577" "50" "148" "0" "148" "0" "c.148C>T" "r.(?)" "p.(Arg50Cys)" "3" "" "" "" "" "0000128293" "00018577" "57" "214" "0" "214" "0" "c.214C>G" "r.(?)" "p.(Arg72Gly)" "4" "0.00" "missense" "0.971" "125.13" "0000128294" "00018577" "59" "380" "0" "380" "0" "c.380A>G" "r.(?)" "p.(His127Arg)" "5" "0.00" "missense" "0.953" "83.33" "0000128295" "00018577" "57" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(His127Tyr)" "5" "0.00" "missense" "0.953" "83.33" "0000128296" "00018577" "53" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Pro110Ser)" "5" "0.52" "missense" "0.382" "73.35" "0000128297" "00018577" "50" "405" "1" "405" "1" "c.405+1G>C" "r.spl?" "p.(=)" "5i" "" "splicing affected?" "" "" "0000128298" "00018577" "50" "405" "23" "405" "23" "c.405+23C>T" "r.(=)" "p.(=)" "5i" "" "" "" "" "0000128299" "00018577" "50" "242" "-22" "242" "-22" "c.242-22A>G" "r.(=)" "p.(=)" "4i" "" "" "" "" "0000128300" "00018577" "53" "490" "0" "490" "0" "c.490A>T" "r.(?)" "p.(Met164Leu)" "6" "0.55" "missense" "0.250" "14.30" "0000128301" "00018577" "57" "419" "0" "419" "0" "c.419G>A" "r.(?)" "p.(Gly140Glu)" "6" "0.00" "missense" "0.951" "97.85" "0000128302" "00018577" "53" "481" "0" "481" "0" "c.481T>G" "r.(?)" "p.(Leu161Val)" "6" "0.587" "missense" "0.587" "0.73" "0000128303" "00018577" "57" "455" "0" "455" "0" "c.455G>C" "r.(?)" "p.(Gly152Ala)" "6" "0.00" "missense" "0.894" "60.00" "0000128304" "00018577" "50" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(His127Tyr)" "5" "" "" "" "" "0000150746" "00018577" "77" "6" "0" "6" "0" "c.6del" "r.(?)" "p.(Ala3Argfs*4)" "" "" "" "" "" "0000150747" "00018577" "77" "224" "0" "224" "0" "c.224G>A" "r.(?)" "p.(Gly75Asp)" "4" "" "" "" "" "0000150748" "00018577" "77" "405" "1" "405" "1" "c.405+1G>A" "r.spl?" "p.?" "" "" "splicing affected?" "" "" "0000248466" "00018577" "10" "273" "0" "273" "0" "c.273A>G" "r.(?)" "p.(Leu91=)" "" "" "" "" "" "0000249489" "00018577" "30" "77" "3" "77" "3" "c.77+3A>G" "r.spl?" "p.?" "" "" "" "" "" "0000250382" "00018577" "30" "490" "0" "490" "0" "c.490A>T" "r.(?)" "p.(Met164Leu)" "" "" "" "" "" "0000279893" "00018577" "10" "-4524" "0" "-4524" "0" "c.-4524G>A" "r.(?)" "p.(=)" "" "" "" "" "" "0000279945" "00018577" "90" "-4559" "0" "-4559" "0" "c.-4559G>A" "r.(?)" "p.(=)" "" "" "" "" "" "0000298077" "00018577" "10" "20" "11" "20" "12" "c.20+11_20+12dup" "r.(=)" "p.(=)" "" "" "" "" "" "0000298078" "00018577" "33" "295" "0" "295" "0" "c.295T>A" "r.(?)" "p.(Tyr99Asn)" "" "142.23" "missense" "0.595" "142.23" "0000298079" "00018577" "30" "306" "0" "306" "0" "c.306T>C" "r.(?)" "p.(Leu102=)" "" "" "" "" "" "0000298080" "00018577" "33" "307" "0" "307" "0" "c.307G>C" "r.(?)" "p.(Val103Leu)" "" "0.27" "missense" "0.261" "31.78" "0000298081" "00018577" "30" "360" "0" "360" "0" "c.360T>C" "r.(?)" "p.(Leu120=)" "" "" "" "" "" "0000298082" "00018577" "10" "406" "-15" "406" "-14" "c.406-15_406-14del" "r.(=)" "p.(=)" "" "" "" "" "" "0000298083" "00018577" "30" "588" "0" "588" "0" "c.*78G>A" "r.(=)" "p.(=)" "" "" "" "" "" "0000298084" "00018577" "30" "78" "-19" "78" "-19" "c.78-19C>T" "r.(=)" "p.(=)" "" "" "" "" "" "0000299388" "00018577" "10" "406" "-13" "406" "-13" "c.406-13G>T" "r.(=)" "p.(=)" "" "" "" "" "" "0000299389" "00018577" "30" "406" "-14" "406" "-13" "c.406-14_406-13del" "r.(=)" "p.(=)" "" "" "" "" "" "0000299390" "00018577" "10" "406" "-8" "406" "-8" "c.406-8G>T" "r.(=)" "p.(=)" "" "" "" "" "" "0000302017" "00018577" "90" "405" "1" "405" "1" "c.405+1G>T" "r.spl?" "p.?" "" "" "" "" "" "0000337311" "00018577" "10" "20" "82" "20" "82" "c.20+82T>C" "r.(=)" "p.(=)" "" "" "" "" "" "0000339507" "00018577" "10" "-38" "0" "-38" "0" "c.-38G>A" "r.(?)" "p.(=)" "" "" "" "" "" "0000339509" "00018577" "10" "354" "0" "354" "0" "c.354T>C" "r.(?)" "p.(Phe118=)" "" "" "" "" "" "0000349114" "00018577" "75" "179" "0" "179" "0" "c.179G>T" "r.(?)" "p.(Ser60Ile)" "" "0.05" "missense" "0.699" "141.80" "0000349138" "00018577" "77" "202" "0" "202" "0" "c.202T>C" "r.(?)" "p.(Ser68Pro)" "" "0.00" "missense" "0.952" "73.35" "0000500522" "00018577" "90" "397" "0" "397" "0" "c.397C>T" "r.(?)" "p.(Arg133*)" "" "" "" "" "" "0000504013" "00018577" "30" "-4485" "0" "-4480" "0" "c.-4485_-4480dup" "r.(?)" "p.(=)" "" "" "" "" "" "0000504014" "00018577" "53" "31" "0" "31" "0" "c.31C>T" "r.(?)" "p.(Arg11Cys)" "" "0.00" "missense" "0.780" "179.53" "0000504015" "00018577" "30" "120" "0" "120" "0" "c.120G>A" "r.(?)" "p.(Arg40=)" "" "" "" "" "" "0000504016" "00018577" "50" "202" "0" "202" "0" "c.202T>C" "r.(?)" "p.(Ser68Pro)" "" "" "" "" "" "0000504017" "00018577" "30" "405" "13" "405" "13" "c.405+13G>A" "r.(=)" "p.(=)" "" "" "" "" "" "0000504019" "00018577" "10" "406" "-12" "406" "-12" "c.406-12C>T" "r.(=)" "p.(=)" "" "" "" "" "" "0000504021" "00018577" "30" "406" "-6" "406" "-6" "c.406-6C>T" "r.(=)" "p.(=)" "" "" "" "" "" "0000504023" "00018577" "50" "473" "0" "473" "0" "c.473T>C" "r.(?)" "p.(Leu158Pro)" "" "" "" "" "" "0000504024" "00018577" "50" "528" "0" "528" "0" "c.*18C>T" "r.(=)" "p.(=)" "" "" "" "" "" "0000504025" "00018577" "10" "594" "0" "594" "0" "c.*84G>C" "r.(=)" "p.(=)" "" "" "" "" "" "0000604953" "00018577" "30" "405" "12" "405" "12" "c.405+12C>T" "r.(=)" "p.(=)" "" "" "" "" "" "0000675523" "00018577" "30" "8" "0" "8" "0" "c.8C>T" "r.(?)" "p.(Ala3Val)" "" "" "" "" "" "0000716949" "00018577" "30" "78" "-19" "78" "-19" "c.78-19C>T" "r.(=)" "p.(=)" "" "" "" "" "" "0000716950" "00018577" "57" "390" "0" "390" "0" "c.390T>A" "r.(?)" "p.(Asn130Lys)" "" "0.00" "missense" "0.788" "93.88" "0000798879" "00018577" "30" "-7" "0" "-7" "0" "c.-7A>C" "r.(?)" "p.(=)" "" "" "" "" "" "0000848362" "00018577" "90" "-4508" "0" "-4502" "0" "c.-4508_-4502del" "r.(?)" "p.(=)" "" "" "" "" "" "0000848363" "00018577" "30" "78" "-19" "78" "-19" "c.78-19C>T" "r.(=)" "p.(=)" "" "" "" "" "" "0000848364" "00018577" "10" "594" "0" "594" "0" "c.*84G>C" "r.(=)" "p.(=)" "" "" "" "" "" "0000918368" "00018577" "99" "1" "0" "1" "0" "c.1A>T" "?" "p.(Met1?)" "" "" "nonsense" "" "" "0000918370" "00018577" "99" "345" "0" "345" "0" "c.345dup" "?" "p.(Ala116Serfs*2)" "" "" "frameshift" "" "" "0000918371" "00018577" "99" "378" "0" "378" "0" "c.378T>G" "?" "p.Tyr126*" "" "" "nonsense" "" "" "0000918373" "00018577" "77" "20" "1" "20" "1" "c.20+1G>T" "?" "p.(?)" "" "" "splicing affected?" "" "" "0000918374" "00018577" "99" "426" "0" "436" "0" "c.426_436del" "?" "p.(Leu143Profs*60)" "" "" "frameshift" "" "" "0000922993" "00018577" "30" "490" "0" "490" "0" "c.490A>T" "r.(?)" "p.(Met164Leu)" "" "" "" "" "" "0000928053" "00018577" "10" "2310" "0" "2310" "0" "c.*1800G>C" "r.(=)" "p.(=)" "" "" "" "" "" "0000947025" "00018577" "30" "406" "-14" "406" "-14" "c.406-14dup" "r.(=)" "p.(=)" "" "" "" "" "" "0000973429" "00018577" "30" "406" "-14" "406" "-14" "c.406-14del" "r.(=)" "p.(=)" "" "" "" "" "" "0000990488" "00018577" "50" "-4483" "0" "-4483" "0" "c.-4483G>A" "r.(?)" "p.(=)" "" "" "" "" "" "0000990489" "00018577" "70" "202" "0" "202" "0" "c.202T>C" "r.(?)" "p.(Ser68Pro)" "" "" "" "" "" "0000990490" "00018577" "10" "406" "-15" "406" "-14" "c.406-15_406-14del" "r.(=)" "p.(=)" "" "" "" "" "" "0000990491" "00018577" "30" "588" "0" "588" "0" "c.*78G>A" "r.(=)" "p.(=)" "" "" "" "" "" "0000990492" "00018577" "10" "594" "0" "594" "0" "c.*84G>C" "r.(=)" "p.(=)" "" "" "" "" "" "0001024057" "00018577" "50" "85" "0" "85" "0" "c.85C>G" "r.(?)" "p.(Pro29Ala)" "" "" "" "" "" "0001047079" "00018577" "10" "77" "36" "77" "36" "c.77+36T>A" "r.(?)" "p.(?)" "" "" "" "" "" "0001047184" "00018577" "30" "405" "36" "405" "36" "c.405+36A>G" "r.(?)" "p.(?)" "" "" "" "" "" "0001047196" "00018577" "30" "594" "0" "594" "0" "c.*84G>C" "r.(?)" "p.(?)" "" "" "" "" "" "0001047222" "00018577" "90" "43" "0" "43" "0" "c.43C>T" "r.(?)" "p.(Arg15Ter)" "" "" "" "" "" "0001047252" "00018577" "50" "367" "0" "367" "0" "c.367C>T" "r.(?)" "p.(Pro123Ser)" "" "" "" "" "" "0001048025" "00018577" "10" "405" "104" "405" "104" "c.405+104dup" "r.(?)" "p.(?)" "" "" "" "" "" "0001048200" "00018577" "70" "241" "1" "241" "1" "c.241+1G>T" "r.(?)" "p.(?)" "" "" "" "" "" "0001048381" "00018577" "30" "406" "-14" "406" "-14" "c.406-14dup" "r.(?)" "p.(?)" "" "" "" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 80 "{{screeningid}}" "{{variantid}}" "0000037079" "0000064204" "0000047430" "0000076127" "0000072617" "0000116690" "0000072618" "0000116692" "0000072619" "0000116696" "0000072620" "0000116705" "0000072621" "0000116710" "0000072622" "0000116699" "0000072623" "0000116737" "0000072624" "0000116738" "0000072625" "0000116739" "0000072701" "0000116708" "0000072718" "0000116706" "0000072719" "0000116719" "0000072720" "0000116734" "0000072723" "0000116733" "0000072896" "0000116731" "0000072902" "0000116697" "0000072907" "0000116709" "0000072913" "0000116735" "0000072925" "0000116716" "0000072928" "0000116729" "0000072929" "0000116728" "0000072981" "0000116694" "0000072982" "0000116704" "0000072983" "0000116714" "0000072986" "0000116712" "0000072987" "0000116713" "0000072988" "0000116718" "0000072989" "0000116722" "0000072990" "0000116723" "0000073004" "0000116715" "0000073005" "0000116727" "0000073010" "0000116740" "0000073011" "0000116693" "0000073012" "0000116720" "0000073013" "0000116707" "0000073014" "0000116732" "0000073015" "0000116730" "0000073016" "0000116691" "0000073017" "0000116698" "0000073018" "0000116700" "0000073019" "0000116703" "0000073020" "0000116702" "0000073021" "0000116701" "0000073022" "0000116721" "0000073023" "0000116725" "0000073024" "0000116724" "0000073025" "0000116736" "0000073088" "0000116726" "0000073096" "0000116711" "0000073097" "0000116741" "0000073204" "0000116695" "0000073234" "0000116717" "0000079460" "0000128296" "0000079461" "0000128300" "0000079467" "0000128290" "0000079468" "0000128304" "0000079469" "0000128297" "0000079470" "0000128293" "0000079473" "0000128291" "0000079475" "0000128298" "0000079485" "0000128283" "0000079486" "0000128301" "0000079487" "0000128302" "0000079497" "0000128284" "0000079498" "0000128294" "0000079508" "0000128303" "0000079522" "0000128285" "0000079523" "0000128292" "0000079562" "0000128286" "0000079563" "0000128287" "0000079564" "0000128288" "0000079565" "0000128289" "0000079566" "0000128295" "0000079567" "0000128299" "0000092420" "0000150746" "0000092421" "0000150747" "0000092423" "0000150748" "0000247673" "0000500522"