### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SDHD) # 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}}" "SDHD" "succinate dehydrogenase complex, subunit D, integral membrane protein" "11" "q23" "no" "NG_012337.3" "UD_131480875151" "" "http://www.LOVD.nl/SDHD" "https://gnomad.broadinstitute.org/gene/ENSG00000204370?dataset=gnomad_r2_1\r\nhttps://mutalyzer.nl/normalizer/\r\nhttps://sift.bii.a-star.edu.sg/\r\nhttp://agvgd.hci.utah.edu/agvgd_input.php" "1" "10683" "6392" "602690" "1" "1" "1" "1" "Using Mutalyzer? (https://mutalyzer.nl/normalizer/)\r\nMake sure to use this gene-transcript configuration: NG_012337.3(NM_003002.4):\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/SDHD_codingDNA.html" "1" "" "Leiden University Medical Center SDHD gene variant database\r\n
\r\n
" "-1" "" "-1" "00001" "2005-01-05 00:00:00" "01713" "2023-02-16 10:41:37" "00006" "2025-11-07 12:07:01" ## 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}}" "00018578" "SDHD" "succinate dehydrogenase complex, subunit D, integral membrane protein" "001" "NM_003002.2" "" "NP_002993.1" "" "" "" "-61" "1304" "480" "111957571" "111966518" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00606" "-" "mitochondrial respiratory chain complex II deficiency" "AR" "252011" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01222" "-" "tumor, carcinoid, intestinal" "" "114900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-10-23 12:42:02" "01445" "CWS1" "Cowden syndrome, type 1 (CWS1)" "AD" "158350" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01489" "PGL1" "paragangliomas, type 1 (PGL-1)" "AD" "168000" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01503" "pheochromocytoma" "pheochromocytoma (susceptibility to)" "AD" "171300" "cerebral cortex" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-01-04 19:51:33" "02614" "-" "paraganglioma, gastric stromal sarcoma" "" "606864" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-10-23 11:33:35" "03829" "CWS3" "Cowden syndrome, type 3 (CWS-3)" "" "615106" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04294" "SNHL" "hearing loss, sensorineural (SNHL)" "" "" "" "" "" "00006" "2015-06-22 12:14:54" "00006" "2015-10-23 11:42:37" "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 = 5 "{{geneid}}" "{{diseaseid}}" "SDHD" "00606" "SDHD" "01222" "SDHD" "01489" "SDHD" "02614" "SDHD" "03829" ## Individuals ## Do not remove or alter this header ## ## Count = 413 "{{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}}" "00037010" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037011" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037012" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037013" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00072469" "" "" "" "1" "" "01713" "" "1 family 6 affected" "" "" "United States" "" "0" "" "" "" "" "00072470" "" "" "" "1" "" "01713" "" "OMIM602690:0021; 3 isolated cases" "" "" "Germany" "" "0" "" "" "" "" "00072471" "" "" "" "6" "" "01713" "" "OMIM602690:0015; 7 families 17 affected" "" "" "China" "" "0" "" "" "" "" "00072472" "" "" "" "4" "" "01713" "" "3 families 8 affected; 3 isolated cases" "" "" "Germany;Poland; Spain" "" "0" "" "" "" "" "00072473" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "France" "" "0" "" "" "" "" "00072474" "" "" "" "3" "" "01713" "" "18 families 33 affected; 9 isolated cases" "" "" "Germany;Poland" "" "0" "" "" "" "" "00072475" "" "" "" "12" "" "01713" "" "OMIM602690:0011" "" "" "" "" "0" "" "" "" "" "00072476" "" "" "" "2" "" "01713" "" "1 family 3 affected; 1 isolated case" "" "" "Germany;Poland" "" "0" "" "" "" "" "00072477" "" "" "" "3" "" "01713" "" "OMIM602690:0010; 1 family 2 affected; 2 isolated cases" "" "" "Germany" "" "0" "" "" "" "" "00072478" "" "" "" "1" "" "01713" "" "1 family 2 affected; 1 isolated case" "" "" "Portugal" "" "0" "" "" "" "" "00072479" "" "" "" "7" "" "01713" "" "OMIM602690:0012; 7 families 12 affected; 3 isolated cases" "" "" "Canada; France; Australia; Spain; Italy" "" "0" "" "" "" "" "00072480" "" "" "" "1" "" "01713" "" "" "" "" "Spain" "" "0" "" "" "" "" "00072481" "" "" "" "2" "" "01713" "" "OMIM602690:0017; 4 families; 2 isolated cases" "" "" "United Kingdom (Great Britain); United States" "" "0" "" "" "" "" "00072482" "" "" "" "1" "" "01713" "" "OMIM602690:0008; 1 family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072483" "" "" "" "1" "" "01713" "" "OMIM602690:0001; 1 family" "" "" "United States" "" "0" "" "" "" "" "00072484" "" "" "" "7" "" "01713" "" "OMIM602690:0002; 5 families 26 affected; 5 isolated cases" "" "" "United States; Germany;Poland" "" "0" "" "" "" "" "00072485" "" "" "" "1" "" "01713" "" "1 family 5 affected" "" "" "Netherlands" "" "0" "" "" "" "" "00072486" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Spain" "" "0" "" "" "" "" "00072487" "" "" "" "10" "" "01713" "{PMID:Ayala-Ramirez 2010:20098451}" "5 families 25 affected; 4 isolated cases" "" "" "Spain;United States;France" "" "0" "" "" "" "" "00072488" "" "" "" "1" "" "01643" "" "patient with PC" "" "" "Serbia" "" "0" "" "" "" "" "00072489" "" "" "" "2" "" "01713" "" "2 families 4 affected" "" "" "Turkey; Hungary" "" "0" "" "" "" "" "00072490" "" "" "" "2" "" "01713" "" "2 families 2 affected" "" "" "France" "" "0" "" "" "" "" "00072491" "" "" "" "7" "" "01713" "" "OMIM602690:0019" "" "" "" "" "0" "" "" "" "" "00072492" "" "" "" "2" "" "01713" "" "1 family 4 affected" "" "" "Spain" "" "0" "" "" "" "" "00072493" "" "" "" "1" "" "01043" "" "" "" "" "Netherlands" "" "0" "" "" "Hindu" "" "00072494" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "France" "" "0" "" "" "" "" "00072495" "" "" "" "1" "" "01043" "" "" "" "" "" "" "0" "" "" "" "" "00072496" "" "" "" "2" "" "01713" "" "" "" "" "" "" "0" "" "" "" "" "00072497" "" "" "" "9" "" "01713" "{PMID:Pigny:19029228}" "5 families 21 affected; 5 isolated cases" "" "" "Belgium; United States; France" "" "0" "" "" "" "" "00072498" "" "" "" "1" "" "01043" "" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00072499" "" "" "" "3" "" "01713" "" "OMIM602690:0013; 1 family 13 affected; 2 isolated cases" "" "" "Australia; France; Spain" "" "0" "" "" "" "" "00072500" "" "" "" "2" "" "01713" "" "2 families 2 affected" "" "" "France" "" "0" "" "" "" "" "00072501" "" "" "" "10" "" "01713" "" "" "" "" "" "" "0" "" "" "" "" "00072502" "" "" "" "1" "" "01713" "" "1 family 5 affected" "" "" "Morocco" "" "0" "" "" "" "" "00072503" "" "" "" "1" "" "01713" "" "1 family" "" "" "Belgium" "" "0" "" "" "" "" "00072504" "" "" "" "1" "" "01043" "" "1 isolated case" "F" "" "Netherlands; Belgium" "" "0" "" "" "(Arabic)" "" "00072505" "" "" "" "12" "" "01713" "" "OMIM602690:0003; 22 families 57 affected; 6 isolated cases" "" "" "Germany;Poland; United States; United Kingdom (Great Britain); Australia; Italy; Belgium" "" "0" "" "" "Northern European" "" "00072506" "" "" "" "1" "" "01713" "" "Silent mutation in Burkitt\'s Lymphoma cell line" "" "" "" "" "0" "" "" "" "" "00072507" "" "" "" "3" "" "01713" "" "2 families 5 affected" "" "" "France" "" "0" "" "" "" "" "00072508" "" "" "" "3" "" "01713" "" "2 families 3 affected" "" "" "France" "" "0" "" "" "" "" "00072509" "" "" "" "1" "" "01647" "" "" "" "" "Spain" "" "0" "" "" "" "" "00072510" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Spain" "" "0" "" "" "" "" "00072511" "" "" "" "9" "" "01713" "" "OMIM602690:0004; 33 families >95 affected; 49 isolated cases" "" "" "Netherlands" "" "0" "" "" "" "" "00072512" "" "" "" "1" "" "01713" "" "1 family 6 affected" "" "" "Australia" "" "0" "" "" "" "" "00072513" "" "" "" "1" "" "01713" "" "1 family 5 affected; 1 isolated case" "" "" "Netherlands; Belgium" "" "0" "" "" "" "" "00072514" "" "" "" "1" "" "01713" "" "OMIM602690:0014" "" "" "Belgium" "" "0" "" "" "" "" "00072515" "" "" "" "1" "" "01043" "" "1 isolated case" "F" "" "Netherlands" "" "0" "" "" "" "" "00072516" "" "" "" "4" "" "01713" "" "1 family 8 affected; 11 isolated cases" "" "" "Netherlands" "" "0" "" "" "" "" "00072517" "" "" "" "1" "" "01043" "" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00072518" "" "" "" "2" "" "01713" "" "1 family 1 affected; 1 isolated case" "" "" "United Kingdom (Great Britain); Australia" "" "0" "" "" "" "" "00072519" "" "" "" "1" "" "01713" "" "OMIM602690:0005; 1 family 1 affected" "" "" "United States" "" "0" "" "" "" "" "00072520" "" "" "" "1" "" "01713" "" "" "" "" "Belgium" "" "0" "" "" "" "" "00072521" "" "" "" "1" "" "01713" "" "1 family 2 affected" "" "" "France" "" "0" "" "" "" "" "00072522" "" "" "" "2" "" "01713" "" "" "" "" "" "" "0" "" "" "" "" "00072523" "" "" "" "2" "" "01713" "" "2 families 4 affected" "F" "" "Japan" "" "0" "" "" "" "" "00072524" "" "" "" "5" "" "01713" "" "9 families 51 affected; 10 isolated cases" "" "" "United States; Italy" "" "0" "" "" "" "" "00072525" "" "" "" "1" "" "01645" "" "" "F" "" "Japan" "" "0" "" "" "" "" "00072526" "" "" "" "2" "" "01713" "" "2 families 3 affected; 1 isolated case" "" "" "France" "" "0" "" "" "" "" "00072527" "" "" "" "2" "" "01713" "" "1 family 6 affected" "" "" "Italy" "" "0" "" "" "" "" "00072528" "" "" "" "1" "" "01713" "" "OMIM602690:0006; 1 family 1 affected" "" "" "Italy" "" "0" "" "" "" "" "00072529" "" "" "" "6" "" "01713" "" "OMIM602690:0022; 1 family 2 affected" "" "" "Italy; Portugal; Spain" "" "0" "" "" "" "" "00072530" "" "" "" "8" "" "01713" "" "OMIM602690:0007; 5 families 21 affected; 4 isolated cases" "" "" "Germany; Canada; Italy; Austria" "" "0" "" "" "" "" "00072531" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "United States" "" "0" "" "" "" "" "00072532" "" "" "" "2" "" "01713" "" "2 isolated cases" "" "" "Germany;Poland" "" "0" "" "" "" "" "00072533" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "France" "" "0" "" "" "" "" "00072534" "" "" "" "2" "" "01648" "" "1 family 2 affected" "" "" "Portugal" "" "0" "" "" "" "" "00072535" "" "" "" "3" "" "01713" "" "OMIM602690:0016; 7 families 20 affected; 2 isolated cases" "" "" "Netherlands" "" "0" "" "" "" "" "00072536" "" "" "" "1" "" "01713" "" "1 family 3 affected" "" "" "Germany" "" "0" "" "" "" "" "00072537" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Germany" "" "0" "" "" "" "" "00072538" "" "" "" "2" "" "01713" "" "OMIM602690:0009; 2 families 3 affected" "" "" "Germany" "" "0" "" "" "" "" "00072539" "" "" "" "1" "" "01713" "" "1 family 3 affected" "" "" "France" "" "0" "" "" "" "" "00072540" "" "" "" "1" "" "01713" "" "" "" "" "Spain" "" "0" "" "" "" "" "00072541" "" "" "" "4" "" "01642" "" "(‘black’) Born in 1956, laringeal PGL + bilateral CB PLFs, sister affected by bilateral CB PGLs; 3 families 7 affected; 2 isolated cases" "M" "" "Italy" "" "0" "" "" "" "" "00072542" "" "" "" "1" "" "01713" "" "2 families 3 affected" "" "" "France" "" "0" "" "" "" "" "00072543" "" "" "" "1" "" "01713" "" "OMIM602690:0020; 1 isolated case" "" "" "Germany" "" "0" "" "" "" "" "00072545" "" "" "" "2" "" "01648" "" "1 family 2 affected" "" "" "Portugal" "" "0" "" "" "" "" "00072554" "" "" "" "1" "" "01713" "" "1 family 3 affected" "" "" "United States" "" "0" "" "" "" "" "00072555" "" "" "" "1" "" "01713" "" "1 family 3 affected" "" "" "United States" "" "0" "" "" "" "" "00072558" "" "" "" "1" "" "01713" "" "1 family 2 affected" "" "" "Austria" "" "0" "" "" "" "" "00072559" "" "" "" "1" "" "01713" "" "1 family 2 affected" "" "" "Austria" "" "0" "" "" "" "" "00072564" "" "" "" "2" "" "01713" "" "1 family 1 affected; 1 isolated case" "" "" "United States" "" "0" "" "" "" "" "00072743" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "United States" "" "0" "" "" "" "" "00072744" "" "" "" "2" "" "01713" "" "3 isolated cases" "" "" "Netherlands" "" "0" "" "" "" "" "00072749" "" "" "" "1" "" "01713" "" "1 family 2 affected" "" "" "Greece" "" "0" "" "" "" "" "00072755" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "United States" "" "0" "" "" "" "" "00072758" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Belgium" "" "0" "" "" "" "" "00072759" "" "" "" "1" "" "01713" "" "1 family 2 affected; 1 isolated case" "" "" "Belgium" "" "0" "" "" "" "" "00072760" "" "" "" "1" "" "01713" "" "1 family 2 affected" "" "" "Belgium" "" "0" "" "" "" "" "00072763" "" "" "" "1" "" "01652" "" "" "" "" "" "" "0" "" "" "" "" "00072770" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "United States" "" "0" "" "" "" "" "00072775" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Japan" "" "0" "" "" "" "" "00072783" "" "" "" "1" "" "01043" "" "noradrenaline producerend abdominaal PGL (31 jr)" "" "" "Netherlands" "" "0" "" "" "" "" "00072785" "" "" "" "1" "" "01713" "" "1 family 5 affected" "" "" "Austria" "" "0" "" "" "" "" "00072786" "" "" "" "1" "" "01713" "" "3 isolated cases" "" "" "France" "" "0" "" "" "" "" "00072795" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Spain" "" "0" "" "" "" "" "00072796" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Spain" "" "0" "" "" "" "" "00072797" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Spain" "" "0" "" "" "" "" "00072798" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Spain" "" "0" "" "" "" "" "00072799" "" "" "" "1" "" "01713" "" "1 family 1 affected" "M" "" "Hungary" "" "0" "" "" "" "" "00072802" "" "" "" "1" "" "01648" "" "" "" "" "Portugal" "" "0" "" "" "" "" "00072806" "" "" "" "0" "" "01655" "" "1 isolated case" "" "" "China" "" "0" "" "" "" "" "00072807" "" "" "" "0" "" "01655" "" "1 family 10 affected; 3 isolated cases" "" "" "China" "" "0" "" "" "" "" "00072808" "" "" "" "0" "" "01655" "" "" "" "" "China" "" "0" "" "" "" "" "00072809" "" "" "" "0" "" "01655" "" "" "" "" "China" "" "0" "" "" "" "" "00072810" "" "" "" "0" "" "01655" "" "" "" "" "China" "" "0" "" "" "" "" "00072834" "" "" "" "1" "" "01713" "" "2 families 2 affected" "" "" "" "" "0" "" "" "" "" "00072835" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "" "" "0" "" "" "" "" "00072836" "" "" "" "1" "" "01713" "" "2 families 2 affected" "" "" "Germany" "" "0" "" "" "" "" "00072837" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Germany" "" "0" "" "" "" "" "00072838" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Germany" "" "0" "" "" "" "" "00072839" "" "" "" "1" "" "01713" "" "2 families 2 affected" "" "" "" "" "0" "" "" "" "" "00072840" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Germany" "" "0" "" "" "" "" "00072841" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Germany" "" "0" "" "" "" "" "00072849" "" "" "" "1" "" "01713" "" "" "" "" "Germany" "" "0" "" "" "" "" "00072850" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "" "" "0" "" "" "" "" "00072851" "" "" "" "1" "" "01713" "" "2 families 2 affected" "" "" "Germany" "" "0" "" "" "" "" "00072852" "" "" "" "2" "" "01713" "" "2 families 2 affected; 1 isolated case" "" "" "Germany" "" "0" "" "" "" "" "00072926" "" "" "" "2" "" "01655" "" "1 family 3 affected; 1 isolated case" "" "" "China" "" "0" "" "" "" "" "00072928" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Netherlands" "" "0" "" "" "" "" "00072929" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Netherlands" "" "0" "" "" "" "" "00072930" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Netherlands" "" "0" "" "" "" "" "00072934" "" "" "" "1" "" "01713" "" "" "" "" "Spain" "" "0" "" "" "" "" "00072935" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Spain" "" "0" "" "" "" "" "00072937" "" "" "" "0" "" "01655" "" "" "" "" "China" "" "0" "" "" "" "" "00072938" "" "" "" "3" "" "01655" "" "" "" "" "China" "" "0" "" "" "" "" "00072942" "" "" "" "1" "" "01645" "" "" "" "" "Japan" "" "0" "" "" "" "" "00072944" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Spain" "" "0" "" "" "" "" "00072946" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "Spain" "" "0" "" "" "" "" "00072947" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "Spain" "" "0" "" "" "" "" "00072948" "" "" "" "1" "" "01713" "" "2 families 20 affected" "" "" "Austria" "" "0" "" "" "" "" "00072951" "" "" "" "1" "" "01713" "" "15y boy" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073051" "" "" "" "0" "" "01657" "" "1 family 3 affected" "" "" "" "" "0" "" "" "" "" "00073052" "" "" "" "0" "" "01657" "" "1 family 6 affected" "" "" "" "" "0" "" "" "" "" "00073053" "" "" "" "0" "" "01657" "" "" "" "" "" "" "0" "" "" "" "" "00073054" "" "" "" "0" "" "01657" "" "" "" "" "" "" "0" "" "" "" "" "00073055" "" "" "" "0" "" "01657" "" "" "" "" "" "" "0" "" "" "" "" "00073056" "" "" "" "0" "" "01657" "" "1 family 4 affected" "" "" "" "" "0" "" "" "" "" "00073061" "" "" "" "1" "" "01659" "" "" "" "" "China" "" "0" "" "" "" "" "00073078" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Germany" "" "0" "" "" "" "" "00073088" "" "" "" "2" "" "01713" "" "2 isolated cases" "" "" "Italy" "" "0" "" "" "" "" "00073093" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Italy" "" "0" "" "" "" "" "00073094" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Italy" "" "0" "" "" "" "" "00079378" "" "" "" "1" "" "01713" "{PMID:Canu:24758185}" "Normal expression of SDH protein" "" "" "Italy" "" "0" "" "" "white" "" "00079415" "" "" "" "1" "" "01713" "{PMID:Lefebvre:22517554}" "" "" "" "France" "" "0" "" "" "" "" "00079417" "" "" "" "1" "" "01713" "{PMID:Lefebvre:22517554}" "" "" "" "France" "" "0" "" "" "" "" "00079426" "" "" "" "1" "" "01713" "{PMID:Miettinen:23282968}" "SDHA-positive GIST" "" "" "United States" "" "0" "" "" "" "" "00079436" "" "" "" "1" "" "01713" "{PMID:Buffet:22517557}, {PMID:Persu:18551016}" "1 families 2 affected" "" "" "France; Belgium" "" "0" "" "" "" "" "00079437" "" "" "" "1" "" "01713" "{PMID:Persu:22566194}" "" "" "" "Belgium" "" "0" "" "" "" "" "00079439" "" "" "" "1" "" "01713" "{PMID:Persu:22566194}" "1 families 1 affected" "" "" "Belgium" "" "0" "" "" "" "" "00079452" "" "" "" "1" "" "01713" "{PMID:Rattenberry:23666964}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00079495" "" "" "" "1" "" "01713" "{PMID:Buffet:22517557}" "" "" "" "France" "" "0" "" "" "" "" "00079496" "" "" "" "1" "" "01713" "{PMID:Rapizzi:22323561}" "" "" "" "Italy" "" "0" "" "" "" "" "00079497" "" "" "" "1" "" "01713" "{PMID:Buffet:22517557}" "" "" "" "France" "" "0" "" "" "" "" "00079498" "" "" "" "1" "" "01713" "{PMID:Buffet:22517557}" "" "" "" "France" "" "0" "" "" "" "" "00079499" "" "" "" "1" "" "01713" "{PMID:Buffet:22517557}" "" "" "" "France" "" "0" "" "" "" "" "00079500" "" "" "" "1" "" "01713" "{PMID:Buffet:22517557}" "" "" "" "France" "" "0" "" "" "" "" "00079501" "" "" "" "1" "" "01713" "{PMID:Buffet:22517557}" "" "" "" "France" "" "0" "" "" "" "" "00079502" "" "" "" "1" "" "01713" "{PMID:Buffet:22517557}" "" "" "" "France" "" "0" "" "" "" "" "00079503" "" "" "" "1" "" "01713" "{PMID:Buffet:22517557}" "" "" "" "France" "" "0" "" "" "" "" "00079504" "" "" "" "1" "" "01713" "{PMID:Buffet:22517557}" "" "" "" "France" "" "0" "" "" "" "" "00079505" "" "" "" "1" "" "01713" "{PMID:Buffet:22517557}" "" "" "" "France" "" "0" "" "" "" "" "00079506" "" "" "" "1" "" "01713" "{PMID:Buffet:22517557}" "Abnormal mRNA" "" "" "France" "" "0" "" "" "" "" "00079507" "" "" "" "1" "" "01713" "{PMID:Buffet:22517557}" "" "" "" "France" "" "0" "" "" "" "" "00079508" "" "" "" "1" "" "01713" "{PMID:Buffet:22517557}" "" "" "" "France" "" "0" "" "" "" "" "00079509" "" "" "" "1" "" "01713" "{PMID:Buffet:22517557}" "" "" "" "France" "" "0" "" "" "" "" "00079510" "" "" "" "1" "" "01713" "{PMID:Xekouki:22170724}" "1 families 1 affected" "" "" "United States; France" "" "0" "" "" "" "" "00079511" "" "" "" "1" "" "01713" "{PMID:Buffet:22517557}" "" "" "" "France" "" "0" "" "" "" "" "00079512" "" "" "" "1" "" "01713" "{PMID:Buffet:22517557}" "" "" "" "France" "" "0" "" "" "" "" "00079513" "" "" "" "1" "" "01713" "{PMID:Buffet:22517557}" "" "" "" "France" "" "0" "" "" "" "" "00079514" "" "" "" "1" "" "01713" "{PMID:Buffet:22517557}" "" "" "" "France" "" "0" "" "" "" "" "00079515" "" "" "" "1" "" "01713" "{PMID:Domingues:22293219}" "" "" "" "Portugal" "" "0" "" "" "" "" "00079516" "" "" "" "1" "" "01713" "{PMID:Domingues:22293219}" "" "" "" "Portugal" "" "0" "" "" "" "" "00079517" "" "" "" "1" "" "01713" "" "" "" "" "" "" "0" "" "" "" "" "00146109" "" "" "" "1" "" "02351" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "F" "" "Netherlands" "" "0" "" "" "" "EJHG-Pat001" 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2018:10.1038/s41431-018-0016-4}" "" "M" "" "Netherlands" "" "0" "" "" "" "EJHG-Pat198" "00146307" "" "" "" "1" "" "02351" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "M" "" "Netherlands" "" "0" "" "" "" "EJHG-Pat199" "00146308" "" "" "" "1" "" "02351" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "M" "" "Netherlands" "" "0" "" "" "" "EJHG-Pat200" "00146309" "" "" "" "1" "" "02351" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "F" "" "Netherlands" "" "0" "" "" "" "EJHG-Pat201" "00146310" "" "" "" "1" "" "02351" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "M" "" "Netherlands" "" "0" "" "" "" "EJHG-Pat202" "00146311" "" "" "" "1" "" "02351" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "M" "" "Netherlands" "" "0" "" "" "" "EJHG-Pat203" "00146312" "" "" "" "1" "" "02351" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "M" "" "Netherlands" "" "0" "" "" "" "EJHG-Pat204" "00146313" "" "" "" "1" "" "02351" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "F" "" "Netherlands" "" "0" "" "" "" "EJHG-Pat205" "00146314" "" "" "" "1" "" "02351" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "M" "" "Netherlands" "" "0" "" "" "" "EJHG-Pat206" "00146315" "" "" "" "1" "" "02351" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "M" "" "Netherlands" "" "0" "" "" "" "EJHG-Pat207" "00146316" "" "" "" "1" "" "02351" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "M" "" "Netherlands" "" "0" "" "" "" "EJHG-Pat208" "00146317" "" "" "" "1" "" "02351" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "F" "" "Netherlands" "" "0" "" "" "" "EJHG-Pat209" "00146318" "" "" "" "1" "" "02351" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "F" "" "Netherlands" "" "0" "" "" "" "EJHG-Pat210" "00146319" "" "" "" "1" "" "02351" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "F" "" "Netherlands" "" "0" "" "" "" "EJHG-Pat211" "00146320" "" "" "" "1" "" "02351" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "M" "" "Netherlands" "" "0" "" "" "" "EJHG-Pat212" "00146321" "" "" "" "1" "" "02351" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "F" "" "Netherlands" "" "0" "" "" "" "EJHG-Pat213" "00146322" "" "" "" "1" "" "02351" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "F" "" "Netherlands" "" "0" "" "" "" "EJHG-Pat214" "00146323" "" "" "" "1" "" "02351" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "F" "" "Netherlands" "" "0" "" "" "" "EJHG-Pat215" "00146324" "" "" "" "1" "" "02351" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "F" "" "Netherlands" "" "0" "" "" "" "EJHG-Pat216" "00146325" "" "" "" "1" "" "02351" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "F" "" "Netherlands" "" "0" "" "" "" "EJHG-Pat217" "00146326" "" "" "" "1" "" "02351" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "M" "" "Netherlands" "" "0" "" "" "" "EJHG-Pat218" "00146327" "" "" "" "1" "" "02351" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "M" "" "Netherlands" "" "0" "" "" "" "EJHG-Pat219" "00146328" "" "" "" "1" "" "02351" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "F" "" "Netherlands" "" "0" "" "" "" "EJHG-Pat220" "00146329" "" "" "" "1" "" "02351" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "M" "" "Netherlands" "" "0" "" "" "" "EJHG-Pat221" "00146330" "" "" "" "1" "" "02351" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "F" "" "Netherlands" "" "0" "" "" "" "EJHG-Pat222" "00290238" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290239" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296609" "" "" "" "1" "" "00006" "{PMID:Taylor 2014:25058219}" "" "M" "" "Hungary" "" "0" "" "" "" "Pat42" "00296845" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00301378" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00304283" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00324381" "" "" "" "1" "" "01164" "" "" "F" "?" "Germany" "" "0" "" "" "" "172995" "00396832" "" "" "" "1" "" "00006" "{PMID:Kim 2021:33219105}" "" "" "" "Korea" "" "0" "" "" "" "" "00396833" "" "" "" "1" "" "00006" "{PMID:Kim 2021:33219105}" "" "M" "" "Korea" "" "0" "" "" "" "case10" "00396834" "" "" "" "1" "" "00006" "{PMID:Kim 2021:33219105}" "" "F" "" "Korea" "" "0" "" "" "" "case11" "00396835" "" "" "" "1" "" "00006" "{PMID:Kim 2021:33219105}" "" "F" "" "Korea" "" "0" "" "" "" "case12" "00396836" "" "" "" "1" "" "00006" "{PMID:Kim 2021:33219105}" "" "" "" "Korea" "" "0" "" "" "" "" "00410574" "" "" "" "1" "" "00006" "{PMID:Schuermans 2022:35606766}" "analysis 329 adult patients suffering from undiagnosed rare disease" "F" "" "Belgium" "" "0" "" "" "" "Pat36" "00410575" "" "" "" "1" "" "00006" "{PMID:Schuermans 2022:35606766}" "analysis 329 adult patients suffering from undiagnosed rare disease" "F" "" "Belgium" "" "0" "" "" "" "Pat37" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 414 "{{individualid}}" "{{diseaseid}}" "00037010" "05085" "00037013" "05085" "00072469" "05085" "00072470" "05085" "00072471" "05085" "00072472" "05085" "00072473" "05085" "00072474" "05085" "00072475" "00000" "00072476" "05085" "00072477" "05085" "00072478" "05085" "00072479" "05085" "00072480" "00000" "00072481" "05085" "00072482" "05085" "00072483" "05085" "00072484" "05085" "00072485" "05085" "00072486" "05085" "00072487" "05085" "00072488" "00000" "00072489" "05085" "00072490" "05085" "00072491" "00000" "00072492" "05085" "00072493" "05085" "00072494" "05085" "00072495" "05085" "00072496" "00000" "00072497" "05085" "00072498" "05085" "00072499" "04294" "00072499" "05085" "00072500" "05085" "00072501" "00000" "00072502" "05085" "00072503" "05085" "00072504" "05085" "00072505" "05085" "00072505" "05093" "00072506" "00000" "00072507" "05085" "00072508" "05085" "00072509" "05085" "00072510" "05085" "00072511" "05085" "00072512" "05085" "00072513" "05085" "00072514" "00198" "00072515" "05085" "00072516" "05085" "00072517" "05085" "00072518" "05085" "00072519" "05085" "00072520" "00198" "00072521" "05085" "00072522" "00000" "00072523" "05085" "00072524" "05085" "00072525" "05085" "00072526" "05085" "00072527" "00000" "00072528" "05085" "00072529" "05085" "00072530" "05085" "00072531" "05085" "00072532" "05085" "00072533" "05085" "00072534" "05085" "00072535" "05085" "00072536" "05085" "00072537" "05085" "00072538" "05085" "00072539" "05085" "00072540" "00000" "00072541" "05085" "00072542" "05085" "00072543" "05085" "00072545" "05085" "00072554" "05085" "00072555" "05085" "00072558" "05085" "00072559" "05085" "00072564" "05085" "00072564" "05093" "00072743" "05085" "00072744" "05085" "00072749" "05085" "00072755" "05085" "00072758" "05085" "00072759" "05085" "00072760" "05085" "00072763" "05085" "00072770" "01445" "00072775" "05085" "00072783" "00198" "00072785" "05085" "00072786" "05085" "00072795" "05085" "00072796" "05085" "00072797" "05085" "00072798" "05085" "00072799" "05085" "00072802" "00198" "00072806" "05085" "00072807" "05085" "00072808" "05085" "00072809" "05085" "00072810" "05085" "00072834" "05085" "00072835" "05085" "00072836" "05085" "00072837" "05085" "00072838" "05085" "00072839" "05085" "00072840" "05085" "00072841" "05085" "00072849" "05085" "00072850" "05085" "00072851" "05085" "00072852" "05085" "00072926" "05085" "00072928" "05085" "00072929" "05085" "00072930" "05085" "00072934" "05085" "00072935" "05085" "00072937" "05085" "00072938" "05085" "00072942" "05085" "00072944" "00198" "00072946" "05085" "00072947" "05085" "00072948" "00198" "00072951" "05085" "00073051" "05085" "00073052" "05085" "00073053" "05085" "00073054" "05085" "00073055" "05085" "00073056" "05085" "00073061" "00198" "00073078" "05085" "00073088" "05085" "00073093" "05085" "00073094" "05085" "00079378" "05085" "00079415" "05085" "00079417" "05085" "00079426" "05093" "00079436" "05085" "00079437" "05085" "00079439" "05085" "00079452" "05085" "00079495" "05085" "00079496" "05085" "00079497" "05085" "00079498" "05085" "00079499" "05085" "00079500" "05085" "00079501" "05085" "00079502" "05085" "00079503" "05085" "00079504" "05085" "00079505" "05085" "00079506" "05085" "00079507" "05085" "00079508" "05085" "00079509" "05085" "00079510" "05085" "00079511" "05085" "00079512" "05085" "00079513" "05085" "00079514" "05085" "00079515" "05085" "00079516" "05085" "00079517" "00198" "00146109" "01489" "00146110" "01489" "00146111" "01489" "00146112" "01489" "00146113" "01489" "00146114" "01489" "00146115" "01489" "00146116" "00000" "00146117" "01489" "00146118" "01489" "00146119" "01489" "00146120" "00000" "00146121" "01489" "00146122" "00000" "00146123" "01489" "00146124" "01489" "00146125" "00000" "00146126" "01489" "00146127" "01489" "00146128" "01489" "00146129" "01489" "00146130" "01489" "00146131" "01489" "00146132" "01489" "00146133" "01489" "00146134" "01489" "00146135" "01489" "00146136" "01489" "00146137" "01489" "00146138" "00000" "00146139" "01489" "00146140" "01489" "00146141" "01489" "00146142" "01489" "00146143" "01489" "00146144" "01489" "00146145" "01489" "00146146" "01489" "00146147" "01489" "00146148" "01489" "00146149" "01489" "00146150" "01489" "00146151" "01489" "00146152" "01489" "00146153" "01489" "00146154" "01489" "00146155" "01489" "00146156" "00000" "00146157" "01489" "00146158" "01489" "00146159" "01489" "00146160" "01489" "00146161" "01489" "00146162" "01489" "00146163" "01489" "00146164" "01489" "00146165" "01489" "00146166" "01489" "00146167" "01489" "00146168" "01489" "00146169" "01489" "00146170" "01489" "00146171" "01489" "00146172" "01489" "00146173" "01489" "00146174" "01489" "00146175" "01489" "00146176" "01489" "00146177" "01489" "00146178" "01489" "00146179" "01489" "00146180" "01489" "00146181" "01489" "00146182" "01489" "00146183" "01489" "00146184" "01489" "00146185" "01489" "00146186" "01489" "00146187" "01489" "00146188" "01489" "00146189" "01489" "00146190" "01489" "00146191" "01489" "00146192" "01489" "00146193" "01489" "00146194" "01489" "00146195" "01489" "00146196" "01489" "00146197" "01489" "00146198" "01489" "00146199" "01489" "00146200" "01489" "00146201" "01489" "00146202" "01489" "00146203" "01489" "00146204" "01489" "00146205" "01489" "00146206" "01489" "00146207" "01489" "00146208" "01489" "00146209" "01489" "00146210" "01489" "00146211" "01489" "00146212" "01489" "00146213" "01489" "00146214" "01489" "00146215" "01489" "00146216" "01489" "00146217" "01489" "00146218" "01489" "00146219" "01489" "00146220" "01489" "00146221" "01489" "00146222" "01489" "00146223" "01489" "00146224" "01489" "00146225" "01489" "00146226" "01489" "00146227" "01489" "00146228" "01489" "00146229" "01489" "00146230" "01489" "00146231" "00000" "00146232" "01489" "00146233" "01489" "00146234" "01489" "00146235" "01489" "00146236" "01489" "00146237" "01489" "00146238" "00000" "00146239" "01489" "00146240" "00000" "00146241" "01489" "00146242" "01489" "00146243" "01489" "00146244" "01489" "00146245" "01489" "00146246" "01489" "00146247" "01489" "00146248" "01489" "00146249" "01489" "00146250" "01489" "00146251" "01489" "00146252" "01489" "00146253" "01489" "00146254" "01489" "00146255" "01489" "00146256" "01489" "00146257" "01489" "00146258" "01489" "00146259" "01489" "00146260" "01489" "00146261" "01489" "00146262" "01489" "00146263" "01489" "00146264" "01489" "00146265" "01489" "00146266" "01489" "00146267" "01489" "00146268" "01489" "00146269" "01489" "00146270" "01489" "00146271" "01489" "00146272" "01489" "00146273" "01489" "00146274" "01489" "00146275" "01489" "00146276" "01489" "00146277" "01489" "00146278" "01489" "00146279" "01489" "00146280" "01489" "00146281" "01489" "00146282" "01489" "00146283" "01489" "00146284" "01489" "00146285" "01489" "00146286" "01489" "00146287" "01489" "00146288" "01489" "00146289" "01489" "00146290" "01489" "00146291" "01489" "00146292" "01489" "00146293" "01489" "00146294" "01489" "00146295" "01489" "00146296" "01489" "00146297" "01489" "00146298" "01489" "00146299" "01489" "00146300" "01489" "00146301" "01489" "00146302" "01489" "00146303" "01489" "00146304" "01489" "00146305" "01489" "00146306" "01489" "00146307" "01489" "00146308" "01489" "00146309" "01489" "00146310" "00000" "00146311" "01489" "00146312" "01489" "00146313" "01489" "00146314" "01489" "00146315" "01489" "00146316" "01489" "00146317" "01489" "00146318" "01489" "00146319" "01489" "00146320" "01489" "00146321" "00000" "00146322" "01489" "00146323" "01489" "00146324" "01489" "00146325" "01489" "00146326" "01489" "00146327" "01489" "00146328" "01489" "00146329" "01489" "00146330" "01489" "00290238" "00198" "00290239" "00198" "00296609" "00198" "00296845" "00198" "00301378" "00198" "00304283" "00198" "00324381" "01503" "00396832" "00198" "00396833" "00198" "00396834" "00198" "00396835" "00198" "00396836" "00198" "00410574" "00198" "00410575" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00606, 01222, 01445, 01489, 01503, 02614, 03829, 04294, 05085, 05093 ## Count = 411 "{{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}}" "0000052146" "05085" "00072469" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000052147" "05085" "00072470" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB;PGL-V;PGL-JT" "" "" "" "0000052148" "05085" "00072471" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN;PGL" "" "" "" "0000052149" "05085" "00072472" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-MF;PGL-EA;PCC;PGL" "" "" "" "0000052150" "05085" "00072473" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000052151" "05085" "00072474" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB;PCC;PGL-MF;PGL-EA" "" "" "" "0000052152" "00000" "00072475" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052153" "05085" "00072476" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-MF;PGL-EA;PGL-MF" "" "" "" "0000052154" "05085" "00072477" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC;PGL-CB;PGL-EA;PGL-MF" "" "" "" "0000052155" "05085" "00072478" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB" "" "" "" "0000052156" "05085" "00072479" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL;PGL-MF;PGL-EA" "" "" "" "0000052157" "00000" "00072480" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052158" "05085" "00072481" "01713" "Unknown" "" "Uni; Bi and Para-aortic PGL" "" "" "" "" "" "" "" "" "PGL-EA" "" "" "" "0000052159" "05085" "00072482" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB" "" "" "" "0000052160" "05085" "00072483" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000052161" "05085" "00072484" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL;PCC" "" "" "" "0000052162" "05085" "00072485" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000052163" "05085" "00072486" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000052164" "05085" "00072487" "01713" "Unknown" "" "Metastatic; Bilateral PGL" "" "" "" "" "" "" "" "" "PGL-PA;PCC" "" "" "" "0000052165" "00000" "00072488" "01643" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052166" "05085" "00072489" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-EA;PGL" "" "" "" "0000052167" "05085" "00072490" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC;PGL-EA;PGL" "" "" "" "0000052168" "00000" "00072491" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052169" "05085" "00072492" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN;PGL" "" "" "" "0000052170" "05085" "00072493" "01043" "Familial" "" "" "" "" "" "" "" "" "" "" "PGL-J" "" "" "" "0000052171" "05085" "00072494" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000052172" "05085" "00072495" "01043" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB" "" "" "" "0000052173" "00000" "00072496" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052174" "05085" "00072497" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC;PGL-CB;PGL-J;PGL-V" "" "" "" "0000052175" "05085" "00072498" "01043" "Unknown" "41y" "" "" "" "" "" "" "" "" "" "PGL-CB" "" "" "" "0000052176" "04294" "00072499" "01713" "Unknown" "" "SNHL Tinnitus" "" "" "" "" "" "" "" "" "" "" "" "" "0000052177" "05085" "00072499" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC;PGL" "" "" "" "0000052178" "05085" "00072500" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC;PGL-EA" "" "" "" "0000052179" "00000" "00072501" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052180" "05085" "00072502" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000052181" "05085" "00072503" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000052182" "05085" "00072504" "01043" "Familial" "" "Bilateral CB PGL with Polyneuropathy" "" "" "" "" "" "" "" "" "PGL-CB" "" "" "" "0000052183" "05093" "00072505" "01713" "Unknown" "" "hereditary leiomyomatosis (HL); Adrenal adenomatoid tumour" "" "" "" "" "" "" "" "" "" "" "" "" "0000052184" "05085" "00072505" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB;PCC;PGL-EA" "" "" "" "0000052185" "00000" "00072506" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052186" "05085" "00072507" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-F;PGL-EA" "" "" "" "0000052187" "05085" "00072508" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC;PGL;PGL-EA" "" "" "" "0000052188" "05085" "00072509" "01647" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB" "" "" "" "0000052189" "05085" "00072510" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000052190" "05085" "00072511" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL;PGL-MF;PGL-EA" "" "" "" "0000052191" "05085" "00072512" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000052192" "05085" "00072513" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000052193" "00198" "00072514" "01713" "Unknown" "" "Neuroblastoma cell line" "" "" "" "" "" "" "" "" "" "" "" "" "0000052194" "05085" "00072515" "01043" "Isolated (sporadic)" "37y" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000052195" "05085" "00072516" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB;PGL-V;PGL-J;PGL-EA" "" "" "" "0000052196" "05085" "00072517" "01043" "Isolated (sporadic)" "16y" "" "" "" "" "" "" "" "" "" "PGL-V" "" "" "" "0000052197" "05085" "00072518" "01713" "Unknown" "" "Bilateral PCC" "" "" "" "" "" "" "" "" "PCC;PGL" "" "" "" "0000052198" "05085" "00072519" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000052199" "00198" "00072520" "01713" "Unknown" "" "Neuroblastoma cell line" "" "" "" "" "" "" "" "" "" "" "" "" "0000052200" "05085" "00072521" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000052201" "00000" "00072522" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052202" "05085" "00072523" "01713" "Familial" "" "Metastatic" "" "" "" "" "" "" "" "" "PGL-CB;PGL-V" "" "" "" "0000052203" "05085" "00072524" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL;PGL-EA;PCC" "" "" "" "0000052204" "05085" "00072525" "01645" "Unknown" "60y" "" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000052205" "05085" "00072526" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC;PGL;PGL-EA" "" "" "" "0000052206" "00000" "00072527" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052207" "05085" "00072528" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB" "" "" "" "0000052208" "05085" "00072529" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB;PGL-J;PGL-V" "" "" "" "0000052209" "05085" "00072530" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC-EA;PGL-CB;PGL;PGL-F" "" "" "" "0000052210" "05085" "00072531" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC;PGL" "" "" "" "0000052211" "05085" "00072532" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC;PGL-EA;PGL-MF" "" "" "" "0000052212" "05085" "00072533" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000052213" "05085" "00072534" "01648" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB;PGL-EA;PGL-V" "" "" "" "0000052214" "05085" "00072535" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-MF" "" "" "" "0000052215" "05085" "00072536" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC;PGL-EA" "" "" "" "0000052216" "05085" "00072537" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000052217" "05085" "00072538" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-MF;PGL-CB;PCC;PGL-EA" "" "" "" "0000052218" "05085" "00072539" "01713" "Unknown" "" "Metastatic" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000052219" "00000" "00072540" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052220" "05085" "00072541" "01642" "Familial" "" "catecholamine-secreting cardiac paraganglioma; laringeal PGL + bilateral CB PLFs" "" "" "" "" "" "" "" "" "PGL-CB" "" "" "" "0000052221" "05085" "00072542" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000052222" "05085" "00072543" "01713" "Unknown" "" "Bilateral PGL-CB" "" "" "" "" "" "" "" "" "PGL-CB" "" "" "" "0000052224" "05085" "00072545" "01648" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB;PGL-J" "" "" "" "0000052233" "05085" "00072554" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB" "" "" "" "0000052234" "05085" "00072555" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000052237" "05085" "00072558" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB;PGL-EA;PCC" "" "" "" "0000052238" "05085" "00072559" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB;PGL-EA" "" "" "" "0000052244" "05093" "00072564" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "GIST" "" "" "" "0000052245" "05085" "00072564" "01713" "Unknown" "" "Mediastinal PGL, Organ of Zuckerkandl tumor" "" "" "" "" "" "" "" "" "PCC;PGL" "" "" "" "0000052434" "05085" "00072743" "01713" "Unknown" "" "multiple tumors, Metastatic" "" "" "" "" "" "" "" "" "PGL-CB;PGL-EA;PGL-F" "" "" "" "0000052435" "05085" "00072744" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-JT" "" "" "" "0000052440" "05085" "00072749" "01713" "Unknown" "" "Metastases in both lungs and the liver" "" "" "" "" "" "" "" "" "PGL-JT" "" "" "" "0000052446" "05085" "00072755" "01713" "Unknown" "" "Metastatic" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000052449" "05085" "00072758" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-JT" "" "" "" "0000052450" "05085" "00072759" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB" "" "" "" "0000052451" "05085" "00072760" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB;PGL-EA;PGL-J" "" "" "" "0000052454" "05085" "00072763" "01652" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB" "" "" "" "0000052461" "01445" "00072770" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052466" "05085" "00072775" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-EA" "" "" "" "0000052474" "00198" "00072783" "01043" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052476" "05085" "00072785" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB;PGL-EA" "" "" "" "0000052477" "05085" "00072786" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB;PGL-EA" "" "" "" "0000052486" "05085" "00072795" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN;PGL-EA" "" "" "" "0000052487" "05085" "00072796" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-EA" "" "" "" "0000052488" "05085" "00072797" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000052489" "05085" "00072798" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000052490" "05085" "00072799" "01713" "Unknown" "33y" "hypertension, increased urinary catecholamine excretion, retroperitoneal tumor" "" "" "" "" "" "" "" "" "PGL-EA" "" "" "" "0000052493" "00198" "00072802" "01648" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052497" "05085" "00072806" "01655" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB" "" "" "" "0000052498" "05085" "00072807" "01655" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB;PGL-V" "" "" "" "0000052499" "05085" "00072808" "01655" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-V" "" "" "" "0000052500" "05085" "00072809" "01655" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB;PGL-J" "" "" "" "0000052501" "05085" "00072810" "01655" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB" "" "" "" "0000052525" "05085" "00072834" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000052526" "05085" "00072835" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000052527" "05085" "00072836" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000052528" "05085" "00072837" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000052529" "05085" "00072838" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000052530" "05085" "00072839" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000052531" "05085" "00072840" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000052532" "05085" "00072841" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000052540" "05085" "00072849" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000052541" "05085" "00072850" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000052542" "05085" "00072851" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000052543" "05085" "00072852" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000052617" "05085" "00072926" "01655" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB;PGL-V" "" "" "" "0000052619" "05085" "00072928" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN;PGL-EA" "" "" "" "0000052620" "05085" "00072929" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN;PCC" "" "" "" "0000052621" "05085" "00072930" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000052625" "05085" "00072934" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-J" "" "" "" "0000052626" "05085" "00072935" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-V" "" "" "" "0000052628" "05085" "00072937" "01655" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB" "" "" "" "0000052629" "05085" "00072938" "01655" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB;PGL-J" "" "" "" "0000052633" "05085" "00072942" "01645" "Unknown" "" "recurrent" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000052635" "00198" "00072944" "01713" "Unknown" "" "extremely rare sympathetic PGL originated in the right sympathetic trunk." "" "" "" "" "" "" "" "" "" "" "" "" "0000052637" "05085" "00072946" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB" "" "" "" "0000052638" "05085" "00072947" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-J" "" "" "" "0000052639" "00198" "00072948" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052642" "05085" "00072951" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-EA;PCC" "" "" "" "0000052742" "05085" "00073051" "01657" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB;PGL-JT" "" "" "" "0000052743" "05085" "00073052" "01657" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-JT;PGL-V" "" "" "" "0000052744" "05085" "00073053" "01657" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-JT" "" "" "" "0000052745" "05085" "00073054" "01657" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-V" "" "" "" "0000052746" "05085" "00073055" "01657" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB" "" "" "" "0000052747" "05085" "00073056" "01657" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-JT" "" "" "" "0000052752" "00198" "00073061" "01659" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052770" "05085" "00073078" "01713" "Unknown" "" "Metastatic" "" "" "" "" "" "" "" "" "PGL-CB" "" "" "" "0000052780" "05085" "00073088" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN;PGL-EA" "" "" "" "0000052785" "05085" "00073093" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000052786" "05085" "00073094" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000059099" "05085" "00079378" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC;PGL" "" "" "" "0000059138" "05085" "00079415" "01713" "Unknown" "" "TAP-PGL" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000059140" "05085" "00079417" "01713" "Unknown" "" "sporadic TAP-PGL" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000059150" "05093" "00079426" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "GIST" "" "" "" "0000059160" "05085" "00079436" "01713" "Unknown" "" "Left JT CB" "" "" "" "" "" "" "" "" "PGL;PGL-J;PGL-CB;PCC-EA" "" "" "" "0000059161" "05085" "00079437" "01713" "Unknown" "" "Left oropharynx PGL" "" "" "" "" "" "" "" "" "PGL-CB;PGL-JT" "" "" "" "0000059163" "05085" "00079439" "01713" "Unknown" "" "Right C and JT PGL" "" "" "" "" "" "" "" "" "PGL-CB" "" "" "" "0000059176" "05085" "00079452" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059219" "05085" "00079495" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059220" "05085" "00079496" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000059221" "05085" "00079497" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059222" "05085" "00079498" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059223" "05085" "00079499" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059224" "05085" "00079500" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059225" "05085" "00079501" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059226" "05085" "00079502" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059227" "05085" "00079503" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059228" "05085" "00079504" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059229" "05085" "00079505" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059230" "05085" "00079506" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059231" "05085" "00079507" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059232" "05085" "00079508" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059233" "05085" "00079509" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059234" "05085" "00079510" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000059235" "05085" "00079511" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059236" "05085" "00079512" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059237" "05085" "00079513" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059238" "05085" "00079514" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059239" "05085" "00079515" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059240" "05085" "00079516" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059241" "00198" "00079517" "01713" "Unknown" "" "Abdominal PGL; Bone & brain metastasis" "" "" "" "" "" "" "" "" "" "" "" "" "0000118849" "01489" "00146109" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118850" "01489" "00146110" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; pheochromocytoma (HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118851" "01489" "00146111" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); jugulotympanic tumor; pheochromocytoma (HP:0002666); extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118852" "01489" "00146112" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118853" "01489" "00146113" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118854" "01489" "00146114" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118855" "01489" "00146115" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; pheochromocytoma (HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118856" "00000" "00146116" "02351" "Familial, autosomal dominant" "" "asymptomatic carrier SDHD variant; no carotid body tumor (-HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118857" "01489" "00146117" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118858" "01489" "00146118" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118859" "01489" "00146119" "02351" "Familial, autosomal dominant" "" "no carotid body tumor (-HP:0002668); no vagal body tumor (-HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118860" "00000" "00146120" "02351" "Familial, autosomal dominant" "" "asymptomatic carrier SDHD variant; no carotid body tumor (-HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118861" "01489" "00146121" "02351" "Familial, autosomal dominant" "" "no carotid body tumor (-HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118862" "00000" "00146122" "02351" "Familial, autosomal dominant" "" "asymptomatic carrier SDHD variant; no carotid body tumor (-HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118863" "01489" "00146123" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118864" "01489" "00146124" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118865" "00000" "00146125" "02351" "Familial, autosomal dominant" "" "asymptomatic carrier SDHD variant; no carotid body tumor (-HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118866" "01489" "00146126" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118867" "01489" "00146127" "02351" "Familial, autosomal dominant" "" "no carotid body tumor (-HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118868" "01489" "00146128" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118869" "01489" "00146129" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118870" "01489" "00146130" "02351" "Familial, autosomal dominant" "" "no carotid body tumor (-HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118871" "01489" "00146131" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118872" "01489" "00146132" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118873" "01489" "00146133" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118874" "01489" "00146134" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118875" "01489" "00146135" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; pheochromocytoma (HP:0002666); extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118876" "01489" "00146136" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118877" "01489" "00146137" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118878" "00000" "00146138" "02351" "Familial, autosomal dominant" "" "asymptomatic carrier SDHD variant; no carotid body tumor (-HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118879" "01489" "00146139" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118880" "01489" "00146140" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118881" "01489" "00146141" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118882" "01489" "00146142" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; pheochromocytoma (HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118883" "01489" "00146143" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118884" "01489" "00146144" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118885" "01489" "00146145" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118886" "01489" "00146146" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118887" "01489" "00146147" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118888" "01489" "00146148" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118889" "01489" "00146149" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); jugulotympanic tumor; pheochromocytoma (HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118890" "01489" "00146150" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118891" "01489" "00146151" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118892" "01489" "00146152" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118893" "01489" "00146153" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118894" "01489" "00146154" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118895" "01489" "00146155" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118896" "00000" "00146156" "02351" "Familial, autosomal dominant" "" "asymptomatic carrier SDHD variant; no carotid body tumor (-HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118897" "01489" "00146157" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118898" "01489" "00146158" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118899" "01489" "00146159" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118900" "01489" "00146160" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118901" "01489" "00146161" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118902" "01489" "00146162" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118903" "01489" "00146163" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118904" "01489" "00146164" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118905" "01489" "00146165" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118906" "01489" "00146166" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118907" "01489" "00146167" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118908" "01489" "00146168" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118909" "01489" "00146169" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118910" "01489" "00146170" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118911" "01489" "00146171" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118912" "01489" "00146172" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118913" "01489" "00146173" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118914" "01489" "00146174" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118915" "01489" "00146175" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118916" "01489" "00146176" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118917" "01489" "00146177" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118918" "01489" "00146178" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118919" "01489" "00146179" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118920" "01489" "00146180" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118921" "01489" "00146181" "02351" "Familial, autosomal dominant" "" "no carotid body tumor (-HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118922" "01489" "00146182" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118923" "01489" "00146183" "02351" "Familial, autosomal dominant" "" "no carotid body tumor (-HP:0002668); vagal body tumor (HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118924" "01489" "00146184" "02351" "Familial, autosomal dominant" "" "no carotid body tumor (-HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118925" "01489" "00146185" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118926" "01489" "00146186" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118927" "01489" "00146187" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118928" "01489" "00146188" "02351" "Familial, autosomal dominant" "" "no carotid body tumor (-HP:0002668); no vagal body tumor (-HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118929" "01489" "00146189" "02351" "Familial, autosomal dominant" "" "no carotid body tumor (-HP:0002668); vagal body tumor (HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118930" "01489" "00146190" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118931" "01489" "00146191" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118932" "01489" "00146192" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118933" "01489" "00146193" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118934" "01489" "00146194" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118935" "01489" "00146195" "02351" "Familial, autosomal dominant" "" "no carotid body tumor (-HP:0002668); vagal body tumor (HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118936" "01489" "00146196" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118937" "01489" "00146197" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118938" "01489" "00146198" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118939" "01489" "00146199" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118940" "01489" "00146200" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118941" "01489" "00146201" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118942" "01489" "00146202" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118943" "01489" "00146203" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118944" "01489" "00146204" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118945" "01489" "00146205" "02351" "Familial, autosomal dominant" "" "no carotid body tumor (-HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118946" "01489" "00146206" "02351" "Familial, autosomal dominant" "" "no carotid body tumor (-HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118947" "01489" "00146207" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118948" "01489" "00146208" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118949" "01489" "00146209" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118950" "01489" "00146210" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; pheochromocytoma (HP:0002666); extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118951" "01489" "00146211" "02351" "Familial, autosomal dominant" "" "no carotid body tumor (-HP:0002668); vagal body tumor (HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118952" "01489" "00146212" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118953" "01489" "00146213" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118954" "01489" "00146214" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118955" "01489" "00146215" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118956" "01489" "00146216" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118957" "01489" "00146217" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118958" "01489" "00146218" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); jugulotympanic tumor; pheochromocytoma (HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118959" "01489" "00146219" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118960" "01489" "00146220" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118961" "01489" "00146221" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; pheochromocytoma (HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118962" "01489" "00146222" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118963" "01489" "00146223" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118964" "01489" "00146224" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118965" "01489" "00146225" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118966" "01489" "00146226" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118967" "01489" "00146227" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118968" "01489" "00146228" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118969" "01489" "00146229" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118970" "01489" "00146230" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118971" "00000" "00146231" "02351" "Familial, autosomal dominant" "" "asymptomatic carrier SDHD variant; no carotid body tumor (-HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118972" "01489" "00146232" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118973" "01489" "00146233" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; pheochromocytoma (HP:0002666); extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118974" "01489" "00146234" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118975" "01489" "00146235" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; pheochromocytoma (HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118976" "01489" "00146236" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118977" "01489" "00146237" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118978" "00000" "00146238" "02351" "Familial, autosomal dominant" "" "asymptomatic carrier SDHD variant; no carotid body tumor (-HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118979" "01489" "00146239" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118980" "00000" "00146240" "02351" "Familial, autosomal dominant" "" "asymptomatic carrier SDHD variant; no carotid body tumor (-HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118981" "01489" "00146241" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118982" "01489" "00146242" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118983" "01489" "00146243" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118984" "01489" "00146244" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118985" "01489" "00146245" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118986" "01489" "00146246" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118987" "01489" "00146247" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118988" "01489" "00146248" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118989" "01489" "00146249" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118990" "01489" "00146250" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118991" "01489" "00146251" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118992" "01489" "00146252" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118993" "01489" "00146253" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118994" "01489" "00146254" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118995" "01489" "00146255" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118996" "01489" "00146256" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118997" "01489" "00146257" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118998" "01489" "00146258" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000118999" "01489" "00146259" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119000" "01489" "00146260" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119001" "01489" "00146261" "02351" "Familial, autosomal dominant" "" "no carotid body tumor (-HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119002" "01489" "00146262" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119003" "01489" "00146263" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119004" "01489" "00146264" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119005" "01489" "00146265" "02351" "Familial, autosomal dominant" "" "no carotid body tumor (-HP:0002668); no vagal body tumor (-HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119006" "01489" "00146266" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119007" "01489" "00146267" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119008" "01489" "00146268" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119009" "01489" "00146269" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119010" "01489" "00146270" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119011" "01489" "00146271" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119012" "01489" "00146272" "02351" "Familial, autosomal dominant" "" "no carotid body tumor (-HP:0002668); vagal body tumor (HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119013" "01489" "00146273" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119014" "01489" "00146274" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119015" "01489" "00146275" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119016" "01489" "00146276" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119017" "01489" "00146277" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119018" "01489" "00146278" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119019" "01489" "00146279" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119020" "01489" "00146280" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119021" "01489" "00146281" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119022" "01489" "00146282" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119023" "01489" "00146283" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119024" "01489" "00146284" "02351" "Familial, autosomal dominant" "" "no carotid body tumor (-HP:0002668); vagal body tumor (HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119025" "01489" "00146285" "02351" "Familial, autosomal dominant" "" "no carotid body tumor (-HP:0002668); no vagal body tumor (-HP:0002886); jugulotympanic tumor; pheochromocytoma (HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119026" "01489" "00146286" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119027" "01489" "00146287" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119028" "01489" "00146288" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119029" "01489" "00146289" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119030" "01489" "00146290" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; pheochromocytoma (HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119031" "01489" "00146291" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119032" "01489" "00146292" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119033" "01489" "00146293" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119034" "01489" "00146294" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119035" "01489" "00146295" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119036" "01489" "00146296" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119037" "01489" "00146297" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; pheochromocytoma (HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119038" "01489" "00146298" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119039" "01489" "00146299" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119040" "01489" "00146300" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119041" "01489" "00146301" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119042" "01489" "00146302" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119043" "01489" "00146303" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119044" "01489" "00146304" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119045" "01489" "00146305" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119046" "01489" "00146306" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119047" "01489" "00146307" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119048" "01489" "00146308" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119049" "01489" "00146309" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119050" "00000" "00146310" "02351" "Familial, autosomal dominant" "" "asymptomatic carrier SDHD variant; no carotid body tumor (-HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119051" "01489" "00146311" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119052" "01489" "00146312" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119053" "01489" "00146313" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119054" "01489" "00146314" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; pheochromocytoma (HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119055" "01489" "00146315" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119056" "01489" "00146316" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119057" "01489" "00146317" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119058" "01489" "00146318" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119059" "01489" "00146319" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119060" "01489" "00146320" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119061" "00000" "00146321" "02351" "Familial, autosomal dominant" "" "asymptomatic carrier SDHD variant; no carotid body tumor (-HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119062" "01489" "00146322" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119063" "01489" "00146323" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119064" "01489" "00146324" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119065" "01489" "00146325" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119066" "01489" "00146326" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119067" "01489" "00146327" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119068" "01489" "00146328" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); vagal body tumor (HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119069" "01489" "00146329" "02351" "Familial, autosomal dominant" "" "no carotid body tumor (-HP:0002668); no vagal body tumor (-HP:0002886); jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000119070" "01489" "00146330" "02351" "Familial, autosomal dominant" "" "carotid body tumor (HP:0002668); no vagal body tumor (-HP:0002886); no jugulotympanic tumor; no pheochromocytoma (-HP:0002666); no extra-adrenal sympathetic paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000156791" "05085" "00037010" "01164" "Unknown" "" "paraganglioma, son pheochromocytoma, parotis tumor" "" "" "" "" "" "" "" "" "" "" "paraganglioma" "" "0000156792" "05085" "00037013" "01164" "Unknown" "" "paraganglioma multiple at age 30" "" "" "" "" "" "" "" "" "" "" "paraganglioma" "" "0000224015" "00198" "00296609" "00006" "Unknown" "14y" "muscle affected; central nervous system not affected; heart not affected; liver not affected; raised CK" "6y" "" "" "" "" "" "" "" "" "" "multiple mitochondrial respiratory chain complex deficiency" "" "0000224242" "00198" "00296845" "01164" "Unknown" "" "Paraganglioma (HP:0002668)" "" "" "" "" "" "" "" "" "" "" "" "" "0000228556" "00198" "00301378" "01164" "Unknown" "" "Abnormality of metabolism/homeostasis (HP:0001939); Pheochromocytoma (HP:0002666)" "" "" "" "" "" "" "" "" "" "" "" "" "0000242923" "01503" "00324381" "01164" "Familial, autosomal dominant" "54y" "multiple pheochromocytomas and paragangliomas in the neck/thorax/abdomen region" "" "" "" "" "" "" "" "" "PCC;PCC-EA;PGL;PGL-EA" "" "" "" "0000289990" "00198" "00396832" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "pheochromocytoma/paraganglioma" "" "0000289991" "00198" "00396833" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "pheochromocytoma/paraganglioma" "" "0000289992" "00198" "00396834" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "pheochromocytoma/paraganglioma" "" "0000289993" "00198" "00396835" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "pheochromocytoma/paraganglioma" "" "0000289994" "00198" "00396836" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "pheochromocytoma/paraganglioma" "" "0000302677" "00198" "00410574" "00006" "Familial, autosomal dominant" "" "see paper; ..., onset adulthood, bilateral carotid body tumor, family history" "" "" "" "" "" "" "" "" "" "PGL1" "" "" "0000302678" "00198" "00410575" "00006" "Familial, autosomal dominant" "" "see paper; ..., onset adulthood, recurrent carotid body tumor, family history" "" "" "" "" "" "" "" "" "" "PGL1" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 413 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000037080" "00037010" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037081" "00037011" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037082" "00037012" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037083" "00037013" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000072626" "00072469" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SEQ;PCRsqd" "DNA" "" "" "0000072627" "00072470" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SEQ" "DNA" "" "" "0000072628" "00072471" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SEQ" "DNA" "" "" "0000072629" "00072472" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SEQ;SSCA" "DNA" "" "" "0000072630" "00072473" "1" "01713" "01713" "2005-12-02 20:20:46" "" "" "SEQ" "DNA" "" "" "0000072631" "00072474" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SEQ;SSCA" "DNA" "" "" "0000072632" "00072475" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SSCA;SEQ;DHPLC" "DNA" "" "" "0000072633" "00072476" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SSCA;SEQ" "DNA" "" "" "0000072634" "00072477" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SSCA;SEQ" "DNA" "" "" "0000072635" "00072478" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SEQ;SSCA" "DNA" "" "" "0000072636" "00072479" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SEQ;SSCA" "DNA" "" "" "0000072637" "00072480" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SEQ" "DNA" "" "" "0000072638" "00072481" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SEQ;SSCA" "DNA" "" "" "0000072639" "00072482" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SEQ" "DNA" "" "" "0000072640" "00072483" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SSCA;SEQ" "DNA" "" "" "0000072641" "00072484" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SEQ;SSCA" "DNA" "" "" "0000072642" "00072485" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SSCA;SEQ" "DNA" "" "" "0000072643" "00072486" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SEQ" "DNA" "" "" "0000072644" "00072487" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SEQ" "DNA" "" "" "0000072645" "00072488" "1" "01643" "01643" "2005-12-16 12:27:00" "" "" "SEQ" "DNA" "" "" "0000072646" "00072489" "1" "01713" "01713" "2005-11-07 14:27:10" "" "" "SEQ" "DNA" "" "" "0000072647" "00072490" "1" "01713" "01713" "2005-12-02 20:32:36" "" "" "SEQ" "DNA" "" "" "0000072648" "00072491" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "DHPLC;SEQ;SSCA" "DNA" "" "" "0000072649" "00072492" "1" "01713" "01713" "2005-07-12 10:22:19" "" "" "SEQ;SSCA" "DNA" "" "" "0000072650" "00072493" "1" "01043" "01043" "2007-02-13 12:17:48" "" "" "SEQ" "DNA" "" "" "0000072651" "00072494" "1" "01713" "01713" "2005-12-02 20:37:04" "" "" "SEQ" "DNA" "" "" "0000072652" "00072495" "1" "01043" "01043" "2007-03-27 14:19:40" "" "" "SEQ" "DNA" "" "" "0000072653" "00072496" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "DHPLC" "DNA" "" "" "0000072654" "00072497" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SEQ" "DNA;RNA" "" "" "0000072655" "00072498" "1" "01043" "01043" "2006-12-04 10:38:50" "" "" "SEQ" "DNA" "" "" "0000072656" "00072499" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SEQ" "DNA" "" "" "0000072657" "00072500" "1" "01713" "01713" "2005-12-02 20:46:21" "" "" "SEQ" "DNA" "" "" "0000072658" "00072501" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SEQ;SSCA" "DNA" "" "" "0000072659" "00072502" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SSCA;SEQ" "DNA" "" "" "0000072660" "00072503" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SSCA;SEQ" "DNA" "" "" "0000072661" "00072504" "1" "01043" "01043" "2007-03-05 16:18:15" "" "" "SEQ" "DNA" "" "" "0000072662" "00072505" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SEQ;SSCA" "DNA;RNA" "" "" "0000072663" "00072506" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SSCA;SEQ" "DNA" "" "" "0000072664" "00072507" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SSCA;SEQ" "DNA" "" "" "0000072665" "00072508" "1" "01713" "01713" "2005-12-02 20:51:15" "" "" "SEQ" "DNA" "" "" "0000072666" "00072509" "1" "01647" "01647" "2006-04-20 19:27:42" "" "" "SEQ" "DNA" "" "" "0000072667" "00072510" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SEQ" "DNA" "" "" "0000072668" "00072511" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SEQ;SSCA" "DNA" "" "" "0000072669" "00072512" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SEQ" "DNA" "" "" "0000072670" "00072513" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SEQ;SSCA" "DNA" "" "" "0000072671" "00072514" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "DHPLC" "DNA" "" "" "0000072672" "00072515" "1" "01043" "01043" "2005-11-18 08:11:42" "" "" "SEQ" "DNA" "" "" "0000072673" "00072516" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SEQ;SSCA" "DNA" "" "" "0000072674" "00072517" "1" "01043" "01043" "2007-03-27 14:42:33" "" "" "SEQ" "DNA" "" "" "0000072675" "00072518" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SSCA;SEQ" "DNA" "" "" "0000072676" "00072519" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SSCA;SEQ" "DNA" "" "" "0000072677" "00072520" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "DHPLC" "DNA" "" "" "0000072678" "00072521" "1" "01713" "01713" "2005-12-02 20:55:30" "" "" "SEQ" "DNA" "" "" "0000072679" "00072522" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SSCA;SEQ;DHPLC" "DNA" "" "" "0000072680" "00072523" "1" "01713" "01713" "2006-10-19 10:13:04" "" "" "SEQ" "DNA" "" "" "0000072681" "00072524" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SEQ;SSCA" "DNA" "" "" "0000072682" "00072525" "1" "01645" "01645" "2006-05-10 11:29:25" "" "" "SEQ" "DNA" "" "" "0000072683" "00072526" "1" "01713" "01713" "2005-12-02 21:00:32" "" "" "SEQ" "DNA" "" "" "0000072684" "00072527" "1" "01713" "01713" "2006-08-11 13:49:23" "" "" "SEQ" "DNA" "" "" "0000072685" "00072528" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SEQ" "DNA" "" "" "0000072686" "00072529" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SEQ" "DNA" "" "" "0000072687" "00072530" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SEQ;SSCA" "DNA" "" "" "0000072688" "00072531" "1" "01713" "01713" "2005-12-02 21:06:40" "" "" "SEQ" "DNA" "" "" "0000072689" "00072532" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SSCA;SEQ" "DNA" "" "" "0000072690" "00072533" "1" "01713" "01713" "2005-12-02 21:09:56" "" "" "SEQ" "DNA" "" "" "0000072691" "00072534" "1" "01648" "01713" "2005-04-21 16:01:59" "" "" "SEQ;SSCA" "DNA" "" "" "0000072692" "00072535" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SSCA;SEQ" "DNA" "" "" "0000072693" "00072536" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SSCA;SEQ" "DNA" "" "" "0000072694" "00072537" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SEQ" "DNA" "" "" "0000072695" "00072538" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SEQ" "DNA" "" "" "0000072696" "00072539" "1" "01713" "01713" "2005-12-02 21:12:52" "" "" "SEQ" "DNA" "" "" "0000072697" "00072540" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SSCA;SEQ" "DNA" "" "" "0000072698" "00072541" "1" "01642" "01642" "2005-11-25 16:50:56" "" "" "SEQ" "DNA" "" "" "0000072699" "00072542" "1" "01713" "01713" "2005-12-02 21:14:43" "" "" "SEQ" "DNA" "" "" "0000072700" "00072543" "1" "01713" "01713" "2005-04-21 16:01:59" "" "" "SEQ" "DNA" "" "" "0000072702" "00072545" "1" "01648" "01713" "2007-08-27 11:57:31" "" "" "SEQ;SSCA" "DNA" "" "" "0000072711" "00072554" "1" "01713" "01713" "2007-08-30 12:04:52" "" "" "SEQ;SSCA" "DNA" "" "" "0000072712" "00072555" "1" "01713" "01713" "2007-08-30 14:25:31" "" "" "SEQ;SSCA" "DNA" "" "" "0000072715" "00072558" "1" "01713" "01713" "2007-08-31 10:05:50" "" "" "SEQ" "DNA" "" "" "0000072716" "00072559" "1" "01713" "01713" "2007-08-31 10:16:59" "" "" "SEQ" "DNA" "" "" "0000072721" "00072564" "1" "01713" "01713" "2007-09-03 13:32:14" "" "" "SEQ" "DNA" "" "" "0000072900" "00072743" "1" "01713" "01713" "2007-12-03 17:13:18" "" "" "SEQ" "DNA" "" "" "0000072901" "00072744" "1" "01713" "01713" "2007-12-03 17:26:24" "" "" "SEQ" "DNA" "" "" "0000072906" "00072749" "1" "01713" "01713" "2008-01-28 15:56:38" "" "" "SEQ" "DNA" "" "" "0000072912" "00072755" "1" "01713" "01713" "2008-04-09 17:30:57" "" "" "SEQ" "DNA" "" "" "0000072915" "00072758" "1" "01713" "01713" "2008-06-26 15:44:25" "" "" "SEQ" "DNA" "" "" "0000072916" "00072759" "1" "01713" "01713" "2008-06-26 15:52:21" "" "" "SEQ" "DNA" "" "" "0000072917" "00072760" "1" "01713" "01713" "2008-06-26 16:15:31" "" "" "SEQ" "DNA" "" "" "0000072920" "00072763" "1" "01652" "01652" "2008-07-28 08:17:18" "" "" "SEQ" "DNA" "" "" "0000072927" "00072770" "1" "01713" "01713" "2008-08-21 15:54:32" "" "" "SEQ" "DNA" "" "" "0000072932" "00072775" "1" "01713" "01713" "2008-09-16 18:47:36" "" "" "SEQ" "DNA" "" "" "0000072940" "00072783" "1" "01043" "01043" "2008-10-17 09:20:45" "" "" "SEQ" "DNA" "" "" "0000072942" "00072785" "1" "01713" "01713" "2008-10-27 15:18:58" "" "" "SEQ" "DNA" "" "" "0000072943" "00072786" "1" "01713" "01713" "2008-10-27 16:21:36" "" "" "SEQ" "DNA" "" "" "0000072952" "00072795" "1" "01713" "01713" "2009-03-10 16:26:28" "" "" "SEQ" "DNA" "" "" "0000072953" "00072796" "1" "01713" "01713" "2009-03-10 16:41:35" "" "" "SEQ" "DNA" "" "" "0000072954" "00072797" "1" "01713" "01713" "2009-03-10 16:46:16" "" "" "SEQ" "DNA" "" "" "0000072955" "00072798" "1" "01713" "01713" "2009-03-10 16:57:29" "" "" "SEQ" "DNA" "" "" "0000072956" "00072799" "1" "01713" "01713" "2009-03-26 17:11:40" "" "" "SEQ" "DNA" "" "" "0000072959" "00072802" "1" "01648" "01648" "2009-05-03 20:02:03" "" "" "SSCA" "DNA" "" "" "0000072963" "00072806" "1" "01655" "01655" "2009-08-12 14:01:19" "" "" "SEQ" "DNA" "" "" "0000072964" "00072807" "1" "01655" "01655" "2009-08-12 14:15:43" "" "" "SEQ" "DNA" "" "" "0000072965" "00072808" "1" "01655" "01655" "2009-08-12 14:19:38" "" "" "SEQ" "DNA" "" "" "0000072966" "00072809" "1" "01655" "01655" "2009-08-12 14:21:49" "" "" "SEQ" "DNA" "" "" "0000072967" "00072810" "1" "01655" "01655" "2009-08-12 15:23:41" "" "" "SEQ" "DNA" "" "" "0000072991" "00072834" "1" "01713" "01713" "2009-09-03 11:40:53" "" "" "SEQ" "DNA" "" "" "0000072992" "00072835" "1" "01713" "01713" "2009-09-03 11:42:59" "" "" "SEQ" "DNA" "" "" "0000072993" "00072836" "1" "01713" "01713" "2009-09-03 11:44:36" "" "" "SEQ" "DNA" "" "" "0000072994" "00072837" "1" "01713" "01713" "2009-09-03 12:01:36" "" "" "SEQ" "DNA" "" "" "0000072995" "00072838" "1" "01713" "01713" "2009-09-03 12:05:39" "" "" "SEQ" "DNA" "" "" "0000072996" "00072839" "1" "01713" "01713" "2009-09-03 12:13:58" "" "" "SEQ" "DNA" "" "" "0000072997" "00072840" "1" "01713" "01713" "2009-09-03 12:15:17" "" "" "SEQ" "DNA" "" "" "0000072998" "00072841" "1" "01713" "01713" "2009-09-03 12:16:49" "" "" "SEQ" "DNA" "" "" "0000073006" "00072849" "1" "01713" "01713" "2009-09-04 09:59:50" "" "" "SEQ" "DNA" "" "" "0000073007" "00072850" "1" "01713" "01713" "2009-09-04 10:01:12" "" "" "SEQ" "DNA" "" "" "0000073008" "00072851" "1" "01713" "01713" "2009-09-04 10:04:22" "" "" "SEQ" "DNA" "" "" "0000073009" "00072852" "1" "01713" "01713" "2009-09-04 11:30:50" "" "" "PCRsqd" "DNA" "" "" "0000073083" "00072926" "1" "01655" "01655" "2009-09-05 16:49:58" "" "" "SEQ" "DNA" "" "" "0000073085" "00072928" "1" "01713" "01713" "2009-09-09 11:09:38" "" "" "MLPA" "DNA" "" "" "0000073086" "00072929" "1" "01713" "01713" "2009-09-09 11:13:01" "" "" "MLPA" "DNA" "" "" "0000073087" "00072930" "1" "01713" "01713" "2009-09-09 11:15:24" "" "" "MLPA" "DNA" "" "" "0000073091" "00072934" "1" "01713" "01713" "2009-09-09 12:33:26" "" "" "SEQ" "DNA" "" "" "0000073092" "00072935" "1" "01713" "01713" "2009-09-09 12:37:53" "" "" "SEQ" "DNA" "" "" "0000073094" "00072937" "1" "01655" "01655" "2009-12-05 09:21:15" "" "" "SEQ" "DNA" "" "" "0000073095" "00072938" "1" "01655" "01655" "2009-12-05 09:25:26" "" "" "SEQ" "DNA" "" "" "0000073099" "00072942" "1" "01645" "01645" "2010-02-15 02:17:39" "" "" "BESS" "DNA" "" "" "0000073101" "00072944" "1" "01713" "01713" "2010-05-12 16:49:19" "" "" "MLPA;SEQ" "DNA" "" "" "0000073103" "00072946" "1" "01713" "01713" "2010-05-17 11:33:33" "" "" "SEQ" "DNA" "" "" "0000073104" "00072947" "1" "01713" "01713" "2010-05-17 11:44:56" "" "" "SEQ" "DNA" "" "" "0000073105" "00072948" "1" "01713" "01713" "2010-05-17 12:10:03" "" "" "SEQ" "DNA" "" "" "0000073108" "00072951" "1" "01713" "01713" "2010-05-17 15:47:55" "" "" "SEQ" "DNA" "" "" "0000073208" "00073051" "1" "01657" "01657" "2011-01-14 12:54:40" "" "" "SEQ" "DNA" "" "" "0000073209" "00073052" "1" "01657" "01657" "2011-01-14 15:27:30" "" "" "SEQ" "DNA" "" "" "0000073210" "00073053" "1" "01657" "01657" "2011-01-14 15:30:34" "" "" "SEQ" "DNA" "" "" "0000073211" "00073054" "1" "01657" "01657" "2011-01-14 15:34:24" "" "" "SEQ" "DNA" "" "" "0000073212" "00073055" "1" "01657" "01657" "2011-01-14 15:36:32" "" "" "SEQ" "DNA" "" "" "0000073213" "00073056" "1" "01657" "01657" "2011-01-14 15:43:14" "" "" "SEQ" "DNA" "" "" "0000073218" "00073061" "1" "01659" "01659" "2011-04-28 11:34:59" "" "" "PCRm" "DNA" "" "" "0000073235" "00073078" "1" "01713" "01713" "2012-03-21 15:19:14" "" "" "SEQ" "DNA" "" "" "0000073245" "00073088" "1" "01713" "01713" "2012-03-26 14:50:01" "" "" "SEQ" "DNA" "" "" "0000073250" "00073093" "1" "01713" "01713" "2012-03-27 16:04:59" "" "" "SEQ" "DNA" "" "" "0000073251" "00073094" "1" "01713" "01713" "2012-03-27 16:41:15" "" "" "SEQ" "DNA" "" "" "0000079451" "00079378" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079488" "00079415" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079490" "00079417" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079499" "00079426" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079509" "00079436" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079510" "00079437" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079512" "00079439" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079525" "00079452" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ-NG" "DNA" "" "" "0000079568" "00079495" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" 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"SDHD" "0000079577" "SDHD" "0000079578" "SDHD" "0000079579" "SDHD" "0000079580" "SDHD" "0000079581" "SDHD" "0000079582" "SDHD" "0000079583" "SDHD" "0000079584" "SDHD" "0000079585" "SDHD" "0000079586" "SDHD" "0000079587" "SDHD" "0000079588" "SDHD" "0000079589" "SDHD" "0000079590" "SDHD" "0000146965" "SDHD" "0000146966" "SDHD" "0000146967" "SDHD" "0000146968" "SDHD" "0000146969" "SDHD" "0000146970" "SDHD" "0000146971" "SDHD" "0000146972" "SDHD" "0000146973" "SDHD" "0000146974" "SDHD" "0000146975" "SDHD" "0000146976" "SDHD" "0000146977" "SDHD" "0000146978" "SDHD" "0000146979" "SDHD" "0000146980" "SDHD" "0000146981" "SDHD" "0000146982" "SDHD" "0000146983" "SDHD" "0000146984" "SDHD" "0000146985" "SDHD" "0000146986" "SDHD" "0000146987" "SDHD" "0000146988" "SDHD" "0000146989" "SDHD" "0000146990" "SDHD" "0000146991" "SDHD" "0000146992" "SDHD" "0000146993" "SDHD" "0000146994" "SDHD" "0000146995" "SDHD" "0000146996" "SDHD" "0000146997" "SDHD" "0000146998" "SDHD" "0000146999" "SDHD" "0000147000" "SDHD" "0000147001" "SDHD" "0000147002" "SDHD" "0000147003" "SDHD" "0000147004" "SDHD" "0000147005" "SDHD" "0000147006" "SDHD" "0000147007" "SDHD" "0000147008" "SDHD" "0000147009" "SDHD" "0000147010" "SDHD" "0000147011" "SDHD" "0000147012" "SDHD" "0000147013" "SDHD" "0000147014" "SDHD" "0000147015" "SDHD" "0000147016" "SDHD" "0000147017" "SDHD" "0000147018" "SDHD" "0000147019" "SDHD" "0000147020" "SDHD" "0000147021" "SDHD" "0000147022" "SDHD" "0000147023" "SDHD" "0000147024" "SDHD" "0000147025" "SDHD" "0000147026" "SDHD" "0000147027" "SDHD" "0000147028" "SDHD" "0000147029" "SDHD" "0000147030" "SDHD" "0000147031" "SDHD" "0000147032" "SDHD" "0000147033" "SDHD" "0000147034" "SDHD" "0000147035" "SDHD" "0000147036" "SDHD" "0000147037" "SDHD" "0000147038" "SDHD" "0000147039" "SDHD" "0000147040" "SDHD" "0000147041" "SDHD" "0000147042" "SDHD" "0000147043" "SDHD" "0000147044" "SDHD" "0000147045" "SDHD" "0000147046" "SDHD" "0000147047" "SDHD" "0000147048" "SDHD" "0000147049" "SDHD" "0000147050" "SDHD" "0000147051" "SDHD" "0000147052" "SDHD" "0000147053" "SDHD" "0000147054" "SDHD" "0000147055" "SDHD" "0000147056" "SDHD" "0000147057" "SDHD" "0000147058" "SDHD" "0000147059" "SDHD" "0000147060" "SDHD" "0000147061" "SDHD" "0000147062" "SDHD" "0000147063" "SDHD" "0000147064" "SDHD" "0000147065" "SDHD" "0000147066" "SDHD" "0000147067" "SDHD" "0000147068" "SDHD" "0000147069" "SDHD" "0000147070" "SDHD" "0000147071" "SDHD" "0000147072" "SDHD" "0000147073" "SDHD" "0000147074" "SDHD" "0000147075" "SDHD" "0000147076" "SDHD" "0000147077" "SDHD" "0000147078" "SDHD" "0000147079" "SDHD" "0000147080" "SDHD" "0000147081" "SDHD" "0000147082" "SDHD" "0000147083" "SDHD" "0000147084" "SDHD" "0000147085" "SDHD" "0000147086" "SDHD" "0000147087" "SDHD" "0000147088" "SDHD" "0000147089" "SDHD" "0000147090" "SDHD" "0000147091" "SDHD" "0000147092" "SDHD" "0000147093" "SDHD" "0000147094" "SDHD" "0000147095" "SDHD" "0000147096" "SDHD" "0000147097" "SDHD" "0000147098" "SDHD" "0000147099" "SDHD" "0000147100" "SDHD" "0000147101" "SDHD" "0000147102" "SDHD" "0000147103" "SDHD" "0000147104" "SDHD" "0000147105" "SDHD" "0000147106" "SDHD" "0000147107" "SDHD" "0000147108" "SDHD" "0000147109" "SDHD" "0000147110" "SDHD" "0000147111" "SDHD" "0000147112" "SDHD" "0000147113" "SDHD" "0000147114" "SDHD" "0000147115" "SDHD" "0000147116" "SDHD" "0000147117" "SDHD" "0000147118" "SDHD" "0000147119" "SDHD" "0000147120" "SDHD" "0000147121" "SDHD" "0000147122" "SDHD" "0000147123" "SDHD" "0000147124" "SDHD" "0000147125" "SDHD" "0000147126" "SDHD" "0000147127" "SDHD" "0000147128" "SDHD" "0000147129" "SDHD" "0000147130" "SDHD" "0000147131" "SDHD" "0000147132" "SDHD" "0000147133" "SDHD" "0000147134" "SDHD" "0000147135" "SDHD" "0000147136" "SDHD" "0000147137" "SDHD" "0000147138" "SDHD" "0000147139" "SDHD" "0000147140" "SDHD" "0000147141" "SDHD" "0000147142" "SDHD" "0000147143" "SDHD" "0000147144" "SDHD" "0000147145" "SDHD" "0000147146" "SDHD" "0000147147" "SDHD" "0000147148" "SDHD" "0000147149" "SDHD" "0000147150" "SDHD" "0000147151" "SDHD" "0000147152" "SDHD" "0000147153" "SDHD" "0000147154" "SDHD" "0000147155" "SDHD" "0000147156" "SDHD" "0000147157" "SDHD" "0000147158" "SDHD" "0000147159" "SDHD" "0000147160" "SDHD" "0000147161" "SDHD" "0000147162" "SDHD" "0000147163" "SDHD" "0000147164" "SDHD" "0000147165" "SDHD" "0000147166" "SDHD" "0000147167" "SDHD" "0000147168" "SDHD" "0000147169" "SDHD" "0000147170" "SDHD" "0000147171" "SDHD" "0000147172" "SDHD" "0000147173" "SDHD" "0000147174" "SDHD" "0000147175" "SDHD" "0000147176" "SDHD" "0000147177" "SDHD" "0000147178" "SDHD" "0000147179" "SDHD" "0000147180" "SDHD" "0000147181" "SDHD" "0000147182" "SDHD" "0000147183" "SDHD" "0000147184" "SDHD" "0000147185" "SDHD" "0000147186" "SDHD" "0000325571" "SDHD" "0000398073" "SDHD" "0000398074" "SDHD" "0000398075" "SDHD" "0000398076" "SDHD" "0000398077" "SDHD" ## 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 = 485 "{{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}}" "0000064205" "1" "33" "11" "111958677" "111958677" "subst" "0.00659124" "01164" "SDHD_000019" "g.111958677A>G" "" "" "" "" "Relatively common variant (0.009% in European population). Found 1811 times in gnomAD. Extremely low Grantham score." "Germline" "" "" "0" "" "" "g.112087953A>G" "" "likely benign" "" "0000064206" "1" "10" "11" "111966307" "111966307" "subst" "0" "01164" "SDHD_000143" "g.111966307T>C" "" "" "" "" "in a patient in combination with pathogenic mutation p.His50Arg" "Germline" "" "" "0" "" "" "g.112095583T>C" "" "benign" "" "0000064207" "1" "97" "11" "111965531" "111965531" "subst" "0" "01164" "SDHD_000112" "g.111965531G>T" "" "" "" "" "Align GVGD: Class C65 (most likely to affect function). V. small polar AA to small nonpolar AA. Conserved, located in Tm2 and Uq binding domain, medium Grantham score (109)." "Germline" "" "" "0" "" "" "g.112094807G>T" "" "likely pathogenic" "" "0000064208" "1" "90" "11" "111965551" "111965554" "del" "0" "01164" "SDHD_000022" "g.111965551_111965554del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.112094827_112094830del" "" "pathogenic" "" "0000116742" "1" "59" "11" "111957571" "111966518" "del" "0" "01713" "SDHD_000025" "g.(?_111957571)_(111966518_?)del" "" "{PMID:McWhinney:15531530}" "" "approximately 96-kb deletion spanning SDHD" "0/1 controls" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000116743" "0" "99" "11" "111948804" "111959139" "del" "0" "01713" "SDHD_000121" "g.111948804_111959139del" "" "{PMID:Bayley:19546167}" "" "Deletion Exon 1 & 2" "Deletion also affects entire TIMM8B gene" "Germline" "" "" "0" "" "" "g.112078080_112088415del" "" "pathogenic" "" "0000116744" "0" "99" "11" "111956205" "111958726" "del" "0" "01713" "SDHD_000122" "g.111956205_111958726del" "" "{PMID:Bayley:19546167}" "" "Deletion Exon 1 & 2" "Also deletion of exon 1 of the TIMM8B gene." "Germline" "" "" "0" "" "" "g.112085481_112088002del" "" "pathogenic" "" "0000116745" "0" "59" "11" "111957571" "111958698" "del" "0" "01713" "SDHD_000116" "g.(?_111957571)_(111958698_111959590)del" "" "{PMID:Neumann:19351833}" "" "Deletion Exons 1-2" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000116746" "0" "59" "11" "111957571" "111966518" "del" "0" "01713" "SDHD_000025" "g.(?_111957571)_(111966518_?)del" "" "{PMID:Neumann:19351833}, {PMID:Piccini:22241717}" "" "Deletion Exons 1-4" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000116747" "1" "59" "11" "111957632" "111957632" "subst" "0" "01713" "SDHD_000021" "g.111957632A>G" "" "{PMID:Riemann:15066320}" "" "A-->G (M1V)" "0/117 controls, LOH in tumor" "Germline" "" "" "0" "" "" "g.112086908A>G" "" "pathogenic" "" "0000116748" "0" "99" "11" "111957632" "111957632" "subst" "0" "01655" "SDHD_000021" "g.111957632A>G" "" "{PMID:Wang:21945342}" "" "" "" "Unknown" "" "" "0" "" "" "g.112086908A>G" "" "pathogenic" "" "0000116749" "0" "77" "11" "111957633" "111957633" "subst" "0" "01713" "SDHD_000142" "g.111957633T>A" "" "{PMID:Piccini:22241717}" "" "p.Met1Lys" "" "Germline" "" "" "0" "" "" "g.112086909T>A" "" "pathogenic" "" "0000116750" "0" "99" "11" "111957633" "111957634" "inv" "0" "01655" "SDHD_000109" "g.111957633_111957634inv" "" "" "" "M1S" "" "Unknown" "" "" "0" "" "" "g.112086909_112086910inv" "" "pathogenic" "" "0000116751" "0" "99" "11" "111957634" "111957634" "subst" "0" "01713" "SDHD_000091" "g.111957634G>A" "" "{PMID:Cascon:19258401}" "" "" "" "Germline" "" "" "0" "" "" "g.112086910G>A" "" "pathogenic" "" "0000116752" "1" "59" "11" "111957634" "111957634" "subst" "0" "01713" "SDHD_000015" "g.111957634G>C" "" "{PMID:Badenhop:11391796}, {PMID:Lee:12782822}, {PMID:Badenhop:15235042}, {PMID:Ma:17406045}, {PMID:Zha:21792967}, {PMID:Wang:21945342}" "" "G to C (Met1Ile), 3G>C/M1I, M1I" "" "Germline" "" "" "0" "" "" "g.112086910G>C" "" "pathogenic" "" "0000116753" "0" "95" "11" "111957634" "111957634" "subst" "0" "01655" "SDHD_000015" "g.111957634G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.112086910G>C" "" "pathogenic" "" "0000116754" "1" "59" "11" "111957645" "111957645" "subst" "0" "01713" "SDHD_000026" "g.111957645G>A" "" "{PMID:Cascon:19258401}, {PMID:Neumann:15328326}, {PMID:Neumann:12000816}, {PMID:Badenhop:15235042}" "" "14 G/A Trp5-->Stop" "" "Germline" "" "" "0" "" "" "g.112086921G>A" "" "pathogenic" "" "0000116755" "1" "59" "11" "111957652" "111957652" "del" "0" "01713" "SDHD_000056" "g.111957652del" "" "{PMID:Benn:16317055}" "" "L7fsX14" "Australia" "Germline" "" "" "0" "" "" "g.112086928del" "" "pathogenic" "" "0000116756" "0" "59" "11" "111957659" "111957664" "delins" "0" "01713" "SDHD_000078" "g.111957659_111957664delinsTAGGAGGCCCTA" "" "{PMID:Neumayer:17576205}" "" "Insertion of a TAG stop codon" "" "Germline" "" "" "0" "" "" "g.112086935_112086940delinsTAGGAGGCCCTA" "" "pathogenic" "" "0000116757" "1" "59" "11" "111957664" "111957664" "subst" "0" "01713" "SDHD_000027" "g.111957664C>A" "" "{PMID:Neumann:15328326}, {PMID:Neumann:12000816}, {PMID:Peczkowska:18826997}" "" "" "" "Germline" "" "" "0" "" "" "g.112086940C>A" "" "pathogenic" "" "0000116758" "0" "11" "11" "111957664" "111957664" "subst" "4.06256E-6" "01713" "SDHD_000110" "g.111957664C>T" "" "{PMID:Neumann:19351833}" "" "" "" "Germline" "" "" "0" "" "" "g.112086940C>T" "" "benign" "" "0000116759" "1" "51" "11" "111957665" "111957665" "subst" "0.00756037" "01713" "SDHD_000011" "g.111957665G>A" "2.5 - 5.3%" "{PMID:Taschner:11391798}, {PMID:Gimm:11156372}, {PMID:Masuoka:11526495}, {PMID:Kytola:12007193}, {PMID:Cascon:12111639}, {PMID:Cascon:12696072}, {PMID:Perren:12386824}, {PMID:Gimenez-R:14500403}, {PMID:De Preter:15331017}, {PMID:Leube:15032977}, {PMID:Bau" "" "p.Gly12Ser" "" "Germline" "" "" "0" "" "" "g.112086941G>A" "" "benign" "" "0000116760" "1" "59" "11" "111957667" "111957668" "del" "0" "01713" "SDHD_000028" "g.111957667_111957668del" "" "{PMID:Neumann:15328326}, {PMID:Neumann:12000816}" "" "c.36, 37 del TG (Frame shift)" "" "Germline" "" "" "0" "" "" "g.112086943_112086944del" "" "pathogenic" "" "0000116761" "0" "59" "11" "111957680" "111957680" "subst" "0" "01713" "SDHD_000085" "g.111957680C>T" "" "{PMID:Papaspyrou:18213727}" "" "R17X" "" "Germline" "" "" "0" "" "" "g.112086956C>T" "" "pathogenic" "" "0000116762" "0" "99" "11" "111957680" "111957680" "subst" "0" "01713" "SDHD_000085" "g.111957680C>T" "" "{PMID:Neumann:19351833}" "" "" "" "Germline" "" "" "0" "" "" "g.112086956C>T" "" "pathogenic" "" "0000116763" "1" "53" "11" "111957681" "111957681" "subst" "0" "01713" "SDHD_000077" "g.111957681G>T" "" "Garcia-Rostan{PMID:Lima:17848412}" "" "" "Poorly conserved AA in poorly conserved region. Medium Grantham score (102)/ Likely benign." "Germline" "" "" "0" "" "" "g.112086957G>T" "" "likely benign" "" "0000116764" "1" "57" "11" "111957685" "111957685" "subst" "0" "01713" "SDHD_000010" "g.111957685T>G" "" "{PMID:Gimm:11156372}, {PMID:Neumann:15328326}, {PMID:Neumann:12000816}" "" "c.IVS1+2T>G" "0/78 controls/ Abberant splicing?" "Germline" "" "" "0" "" "" "g.112086961T>G" "" "VUS" "" "0000116765" "0" "77" "11" "111931979" "111959014" "del" "0" "01713" "SDHD_000128" "g.111931979_111959014del" "" "{PMID: Cadiñanos:20310044}" "" "Chromosome 11q deletion" "(27036 bp del) - breakpoints in MER2B and AluSx repeats" "Germline" "" "" "0" "" "" "g.112061255_112088290del" "" "pathogenic" "" "0000116766" "0" "99" "11" "111957688" "111959022" "delins" "0" "01713" "SDHD_000123" "g.111957688_111959022delins235?" "" "{PMID:Bayley:19546167}" "" "Deletion Exon 2" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000116767" "0" "77" "11" "111958579" "111958579" "subst" "0" "01713" "SDHD_000111" "g.111958579A>G" "" "{PMID:Neumann:19351833}" "" "" "Aberrant splicing?" "Germline" "" "" "0" "" "" "g.112087855A>G" "" "likely pathogenic" "" "0000116768" "0" "59" "11" "111958583" "111958584" "dup" "0" "01713" "SDHD_000018" "g.111958583_111958584dup" "" "{PMID:Taschner:11391798 }" "" "g.6759 insC Frameshift after A18" "" "Germline" "" "" "0" "" "" "g.112087859_112087860dup" "" "pathogenic" "" "0000116769" "0" "59" "11" "111958585" "111958585" "del" "0" "01713" "SDHD_000080" "g.111958585del" "" "{PMID:Pasini:17667967}, {PMID:Ghayee:19075037}, {PMID: Lodish:20418362}" "" "" "" "Germline" "" "" "0" "" "" "g.112087861del" "" "pathogenic" "" "0000116770" "1" "59" "11" "111958592" "111958592" "subst" "0" "01713" "SDHD_000012" "g.111958592C>T" "" "{PMID:Cascon:19258401}, {PMID:Taschner:11391798}, {PMID:Gimenez-Roqueplo:11605159}, {PMID:Badenhop:11391796}, {PMID:Amar:16314641}, {PMID:Benn:16317055}, {PMID:Piccini:22241717}" "" "g.6769 C->T (R22X), 64C>T/R22X" "" "Germline" "" "" "0" "" "" "g.112087868C>T" "" "pathogenic" "" "0000116771" "1" "51" "11" "111958618" "111958618" "subst" "0" "01713" "SDHD_000024" "g.111958618T>C" "> 1 %" "{PMID:Cascon:14985401}" "" "p.His30His" "0/150-200" "Germline" "" "" "0" "" "" "g.112087894T>C" "" "likely benign" "" "0000116772" "1" "59" "11" "111958622" "111958623" "del" "0" "01713" "SDHD_000017" "g.111958622_111958623del" "" "{PMID:Astuti:11323050}, {PMID:Marvin:19072999}, {PMID: Ricketts:19802898}" "" "2 bp frameshift 6799-6800, (F933>X67)." "0/40 controls" "Germline" "" "" "0" "" "" "g.112087898_112087899del" "" "VUS" "" "0000116773" "1" "59" "11" "111958623" "111958623" "subst" "0" "01713" "SDHD_000008" "g.111958623C>A" "" "{PMID:Milunsky:11343322}" "" "p.S32X" "" "Germline" "" "" "0" "" "" "g.112087899C>A" "" "pathogenic" "" "0000116774" "1" "59" "11" "111958634" "111958634" "subst" "0" "01713" "SDHD_000001" "g.111958634C>T" "" "{PMID:Baysal:10657297}" "" "CAG -> TAG Gln36 ->Stop" "" "Germline" "" "" "0" "" "" "g.112087910C>T" "" "pathogenic" "" "0000116775" "1" "59" "11" "111958640" "111958640" "subst" "0" "01713" "SDHD_000002" "g.111958640C>T" "" "{PMID:Baysal:10657297}, {PMID:Baysal:11897817}, {PMID:Neumann:15328326}, {PMID:Neumann:12000816}, {PMID:Gimm:11156372}, {PMID:Fish:17563904}, {PMID: Lodish: 20418362}" "" "CGA ->TGA Arg38->Stop, C.112 C>T (R38X), C112T Codon 38, Arg to Stop" "" "Germline" "" "" "0" "" "" "g.112087916C>T" "" "pathogenic" "" "0000116776" "0" "99" "11" "111958640" "111958640" "subst" "0" "01655" "SDHD_000002" "g.111958640C>T" "" "" "" "R38X" "" "Unknown" "" "" "0" "" "" "g.112087916C>T" "" "pathogenic" "" "0000116777" "0" "73" "11" "111958646" "111958646" "subst" "1.62435E-5" "01648" "SDHD_000107" "g.111958646A>G" "0/274" "" "" "" "Poorly conserved in poorly conserved region. Extremely low Grantham score (29). Likely benign." "Unknown" "" "" "0" "" "" "g.112087922A>G" "" "likely benign" "" "0000116778" "1" "59" "11" "111958650" "111958650" "dup" "0" "01713" "SDHD_000032" "g.111958650dup" "" "{PMID:Taschner:11391798}" "" "g.6825 insC Frameshift after P41" "" "Germline" "" "" "0" "" "" "g.112087926dup" "" "pathogenic" "" "0000116779" "0" "59" "11" "111958648" "111958655" "del" "0" "01648" "SDHD_000075" "g.111958648_111958655del" "" "{PMID:Lima:17848412}, {PMID:Sevilla:19393419}" "" "" "" "Unknown" "" "" "0" "" "" "g.112087924_112087931del" "" "pathogenic" "" "0000116780" "1" "53" "11" "111958653" "111958653" "subst" "0" "01713" "SDHD_000033" "g.111958653A>C" "> 1 %" "{PMID:Cascon:14985401}" "" "" "not conserved, 0/150-200 controls, located near 2 known polymorphisms. Low Grantham score (42)." "Germline" "" "" "0" "" "" "g.112087929A>C" "" "likely benign" "" "0000116781" "1" "59" "11" "111958657" "111958657" "subst" "0" "01713" "SDHD_000023" "g.111958657G>A" "" "{PMID:Cascon:12111639}, {PMID:Velasco:15905695}, {PMID:Astrom:12811540}, {PMID:Benn:16317055}, {PMID:Timmers:17973943}, {PMID:Pigny:18211978}, {PMID:Galera-Ruiz:18561749}, {PMID:Fakhry:17987308}, {PMID:Ayala-Ramirez:20098451}" "" "TGG -> TGA Trp43 -> Stop" "First case of Maternal Transmission? (France, Pigny et al)," "Germline" "" "" "0" "" "" "g.112087933G>A" "" "pathogenic" "" "0000116782" "1" "51" "11" "111958666" "111958666" "subst" "0" "01643" "SDHD_000065" "g.111958666G>A" "" "DBSubm003" "" "p.Val46Val" "" "Unknown" "" "" "0" "" "" "g.112087942G>A" "" "likely benign" "" "0000116783" "1" "59" "11" "111958675" "111958675" "dup" "0" "01713" "SDHD_000052" "g.111958675dup" "" "{PMID:Astrom:12811540}, {PMID:Lendvai:19318336}" "" "c.147-148insA, p.H50fsX68" "" "Germline" "" "" "0" "" "" "g.112087951dup" "" "pathogenic" "" "0000116784" "1" "59" "11" "111958677" "111958677" "dup" "0" "01713" "SDHD_000057" "g.111958677dup" "" "{PMID:Amar:16314641}, {PMID:Benn:16317055}" "" "p.His50fs, H50fsX68" "" "Germline" "" "" "0" "" "" "g.112087953dup" "" "pathogenic" "" "0000116785" "0" "55" "11" "111958677" "111958677" "dup" "0" "01713" "SDHD_000057" "g.111958677dup" "" "{PMID:Lendvai:19318336}" "" "p.His50fs, H50fsX68" "" "Germline" "" "" "0" "" "" "g.112087953dup" "" "pathogenic" "" "0000116786" "1" "51" "11" "111958677" "111958677" "subst" "0.00659124" "01713" "SDHD_000019" "g.111958677A>G" "1.0 - 3.0%" "{PMID:Cascón: 12696072}, {PMID:Cascon:12111639}, {PMID:Kytola:12007193}, {PMID:Perren:12386824}, {PMID:Gimenez-Roqueplo:14500403}, {PMID:Riemann:15066320}, {PMID:Castellano:17102082}, {PMID:Lima:17848412}" "" "CAC -> CGC, A160G (H50R), g.6854 A>G" "" "Germline" "" "" "0" "" "" "g.112087953A>G" "" "likely benign" "" "0000116787" "1" "59" "11" "111958696" "111958697" "del" "0" "01713" "SDHD_000054" "g.111958696_111958697del" "" "{PMID:Velasco:15905695}, {PMID:Cascon:19258401}" "" "170-171delTT" "" "Germline" "" "" "0" "" "" "g.112087972_112087973del" "" "pathogenic" "" "0000116788" "1" "57" "11" "111958697" "111958706" "del" "0" "01043" "SDHD_000074" "g.111958697_111958706del" "" "DBSubm001" "" "delTGTATGTTCT affects exon 2 & IVS2. Aberrant splicing?" "deletion of last nucleotide of exon 2 and splice donor site of intron 2 - splicing defect?" "Germline" "" "" "0" "" "" "g.112087973_112087982del" "" "likely pathogenic" "" "0000116789" "0" "77" "11" "111958697" "111958706" "del" "0" "01043" "SDHD_000074" "g.111958697_111958706del" "" "" "" "delTGTATGTTCT affects exon 2 & IVS2. Aberrant splicing?" "" "Unknown" "" "" "0" "" "" "g.112087973_112087982del" "" "likely pathogenic" "" "0000116790" "0" "97" "11" "111958698" "111958698" "subst" "0" "01713" "SDHD_000132" "g.111958698G>A" "" "{PMID: Srirangalingam:20190551}" "" "" "Exclusion of exon 2 during splicing" "Germline" "" "" "0" "" "" "g.112087974G>A" "" "pathogenic" "" "0000116791" "1" "57" "11" "111958698" "111958698" "subst" "0" "01713" "SDHD_000058" "g.111958698G>T" "" "{PMID:Benn:16317055}" "" "c.IVS2+1G>T Aberrant splicing?" "" "Germline" "" "" "0" "" "" "g.112087974G>T" "" "likely pathogenic" "" "0000116792" "0" "59" "11" "111958702" "111958702" "subst" "0" "01713" "SDHD_000084" "g.111958702G>A" "" "{PMID:Timmers:17973943}, {PMID:Burnichon:19454582}" "" "" "France. Splicesite mutation? cDNA: SDHD exon 2 skipping" "Germline" "" "" "0" "" "" "g.112087978G>A" "" "VUS" "" "0000116793" "1" "51" "11" "111958764" "111958764" "subst" "0" "01043" "SDHD_000069" "g.111958764C>T" "" "DBSubm001" "" "" "" "Unknown" "" "" "0" "" "" "g.112088040C>T" "" "likely benign" "" "0000116794" "0" "97" "11" "111958579" "111958579" "subst" "0" "01713" "SDHD_000111" "g.111958579A>G" "" "{PMID: Hermsen:20208144}" "" "" "Skipping of exon 2" "Germline" "" "" "0" "" "" "g.112087855A>G" "" "pathogenic" "" "0000116795" "1" "11" "11" "111959562" "111959562" "subst" "0.033249" "01713" "SDHD_000030" "g.111959562A>G" "4.4- 7.5%" "{PMID:De Preter:15331017}, {PMID:Aguiar:11397905}" "" "c.IVS3-29A>G; but located in IVS2" "" "Germline" "" "" "0" "" "" "g.112088838A>G" "" "benign" "" "0000116796" "1" "59" "11" "111959590" "111959590" "subst" "4.06659E-6" "01713" "SDHD_000031" "g.111959590G>T" "" "{PMID:Dannenberg:12114404}, {PMID:Renard:12509798}, {PMID:Bauters:12807974}, {PMID:Astrom:12811540}, {PMID:Benn:16317055}, {PMID:Mannelli:17102085}, {PMID:Persu:18551016}, {PMID:Ghayee:19075037}" "" "c.IVS2-1G>T Aberrant splicing?" "" "Germline" "" "" "0" "" "" "g.112088866G>T" "" "likely pathogenic" "" "0000116797" "0" "79" "11" "111959590" "111959736" "del" "0" "01713" "SDHD_000099" "g.(111958698_111959590)_(111959736_111965528)del" "" "{PMID:Fish:17563904}" "" "exon 3 del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000116798" "0" "59" "11" "111959590" "111959736" "del" "0" "01713" "SDHD_000099" "g.(111958698_111959590)_(111959736_111965528)del" "" "{PMID:Neumann:19351833}" "" "Deletion Exons 3" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000116799" "0" "59" "11" "111959590" "111966518" "del" "0" "01713" "SDHD_000114" "g.(111958698_111959590)_(111966518_?)del" "" "{PMID:Neumann:19351833}" "" "Deletion Exons 3-4" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000116800" "1" "59" "11" "111959602" "111959602" "del" "0" "01043" "SDHD_000073" "g.111959602del" "" "DBSubm001" "" "" "" "Unknown" "" "" "0" "" "" "g.112088878del" "" "pathogenic" "" "0000116801" "0" "99" "11" "111959605" "111959606" "ins" "0" "01713" "SDHD_000093" "g.111959605_111959606insTC" "" "{PMID:Neumann:19351833}" "" "" "" "Germline" "" "" "0" "" "" "g.112088881_112088882insTC" "" "pathogenic" "" "0000116802" "0" "99" "11" "111959609" "111959619" "del" "0" "01655" "SDHD_000108" "g.111959609_111959619del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.112088885_112088895del" "" "pathogenic" "" "0000116803" "1" "59" "11" "111959612" "111959613" "del" "0" "01713" "SDHD_000013" "g.111959612_111959613del" "" "{PMID:Badenhop:11391796}, {PMID:Amar:16314641}, {PMID:Cascon:19258401}" "" "c.189_190delTC;" "" "Germline" "" "" "0" "" "" "g.112088888_112088889del" "" "pathogenic" "" "0000116804" "1" "59" "11" "111959623" "111959623" "dup" "0" "01713" "SDHD_000059" "g.111959623dup" "" "{PMID:Amar:16314641}, {PMID:Benn:16317055}" "" "p.Ser68fs, S68fsX113" "" "Germline" "" "" "0" "" "" "g.112088899dup" "" "pathogenic" "" "0000116805" "1" "51" "11" "111959625" "111959625" "subst" "0.0332881" "01713" "SDHD_000034" "g.111959625C>T" "2.8 - 4.4%" "{PMID:Taschner:11391798}, {PMID:Cascon:12111639}, {PMID:Cascon:14985401}, {PMID:Hui:11857371}, {PMID:Masuoka:11526495}, {PMID:Dannenberg:12114404}, {PMID:Aguiar:11397905}, {PMID:Bauters:12807974}, {PMID:Lima: 17848412}" "" "p.Ser68Ser, g.7802 C->T (S68S), AGC - >AGT," "" "Germline" "" "" "0" "" "" "g.112088901C>T" "" "likely benign" "" "0000116806" "1" "59" "11" "111959627" "111959639" "del" "0" "01713" "SDHD_000089" "g.111959627_111959639del" "" "{PMID:Neumann:15328326}" "" "Frameshift" "" "Germline" "" "" "0" "" "" "g.112088903_112088915del" "" "pathogenic" "" "0000116807" "1" "57" "11" "111959629" "111959629" "subst" "0" "01713" "SDHD_000036" "g.111959629A>G" "" "{PMID:Taschner:11391798}" "" "g.7806 A ->G (R70G)" "0/50 controls. Align GVGD: Class C65 (most likely to affect function). Conserved. Borders Tm1. Medium/high Grantham score (125)" "Germline" "" "" "0" "" "" "g.112088905A>G" "" "likely pathogenic" "" "0000116808" "1" "57" "11" "111959630" "111959630" "subst" "0" "01043" "SDHD_000071" "g.111959630G>T" "" "DBSubm001 {PMID:Persu:18551016}" "" "" "Align GVGD: Class C65 (most likely to affect function). Large charged polar AA to large nonpolar AA. Conserved but Grantham score only 91." "Unknown" "" "" "0" "" "" "g.112088906G>T" "" "likely pathogenic" "" "0000116809" "0" "77" "11" "111959631" "111959631" "subst" "0" "01713" "SDHD_000104" "g.111959631G>T" "" "{PMID:Cascon:19258401}" "" "" "Align GVGD: Class C65 (most likely to affect function). Large charged polar AA to small polar uncharged AA. Relatively conserved, Grantham score 110." "Germline" "" "" "0" "" "" "g.112088907G>T" "" "likely pathogenic" "" "0000116810" "0" "75" "11" "111959651" "111959651" "subst" "0" "01713" "SDHD_000124" "g.111959651T>G" "" "{PMID:Sevilla:19393419}" "" "" "Align GVGD: Class C65 (most likely to affect function). Nonpolar AA to large charged polar AA. Poorly conserved AA, Grantham score 102." "Germline" "" "" "0" "" "" "g.112088927T>G" "" "VUS" "" "0000116811" "0" "99" "11" "111959655" "111959664" "del" "0" "01713" "SDHD_000094" "g.111959655_111959664del" "" "{PMID:Neumann:19351833}" "" "p.Ile81ProfsX2" "" "Germline" "" "" "0" "" "" "g.112088931_112088940del" "" "pathogenic" "" "0000116812" "0" "99" "11" "111959655" "111959664" "del" "0" "01713" "SDHD_000094" "g.111959655_111959664del" "" "{PMID:Sevilla:19393419}" "" "p.Pro81fs" "" "Germline" "" "" "0" "" "" "g.112088931_112088940del" "" "pathogenic" "" "0000116813" "0" "57" "11" "111959657" "111959657" "subst" "0" "01645" "SDHD_000127" "g.111959657T>G" "" "" "" "" "Align GVGD: Class C65 (most likely to affect function). Large nonpolar AA to large charged polar AA. Conserved, medium Grantham score (110)." "Unknown" "" "" "0" "" "" "g.112088933T>G" "" "likely pathogenic" "" "0000116814" "0" "99" "11" "111959662" "111959683" "del" "0" "01713" "SDHD_000088" "g.111959662_111959683del" "" "{PMID:Persu:18551016}" "" "-0" "" "Germline" "" "" "0" "" "" "g.112088938_112088959del" "" "pathogenic" "" "0000116815" "1" "99" "11" "111959663" "111959663" "subst" "1.62467E-5" "01713" "SDHD_000003" "g.111959663C>T" "" "{PMID:Baysal:10657297}, {PMID:Baysal:11897817}, {PMID:Gimm:11156372}, {PMID:Neumann:15328326}, {PMID:Milunsky:11343322}, {PMID:Badenhop:11391796}, {PMID:Badenhop:15235042}, {PMID:Astuti:14974914}, {PMID:Mhatre:15479192}, {PMID:Mannelli: 17102085 }, {PMID:" "" "CCG->CTG, P81L, c.242C>T" "Known pathogenic variant. Relatively poorly conserved proline, although fungi have two prolines in close proximity which may have a similar function." "Germline" "" "" "0" "" "" "g.112088939C>T" "" "pathogenic" "" "0000116816" "1" "51" "11" "111959664" "111959664" "subst" "8.12328E-6" "01713" "SDHD_000041" "g.111959664G>C" "-0" "{PMID:Hui:11857371}" "" "p.Pro81Pro, CCG->CCC (codon 81 Pro->Pro)" "" "Germline" "" "" "0" "" "" "g.112088940G>C" "" "likely benign" "" "0000116817" "1" "59" "11" "111959673" "111959673" "subst" "0" "01713" "SDHD_000042" "g.111959673T>G" "" "{PMID:Neumann:15328326}, {PMID:Amar:16314641}, {PMID:Benn:16317055}" "" "252T/G Tyr84 ->Stop, Y84X" "" "Germline" "" "" "0" "" "" "g.112088949T>G" "" "pathogenic" "" "0000116818" "1" "59" "11" "111959675" "111959675" "subst" "0" "01713" "SDHD_000048" "g.111959675T>A" "" "{PMID:Amar:16314641}, {PMID:Benn:16317055}, {PMID:Timmers:17973943}" "" "L85X" "" "Germline" "" "" "0" "" "" "g.112088951T>A" "" "pathogenic" "" "0000116819" "1" "55" "11" "111959680" "111959680" "subst" "4.06118E-6" "01647" "SDHD_000068" "g.111959680C>T" "" "DBSubm012" "" "" "Align GVGD: Class C65 (most likely to affect function). Nonpolar proline to small polar AA. Poorly conserved, medium/low Grantham score (74)." "Unknown" "" "" "0" "" "" "g.112088956C>T" "" "VUS" "" "0000116820" "0" "35" "11" "111959681" "111959681" "subst" "0" "01713" "SDHD_000086" "g.111959681C>A" "" "{PMID:Klein:18382370}" "" "P87H" "Align GVGD: Class C65 (most likely to affect function). Large nonpolar Proline to similar large polar AA. Poorly conserved, Tm1 domain, medium/low Grantham score (77)." "Germline" "" "" "0" "" "" "g.112088957C>A" "" "VUS" "" "0000116821" "0" "77" "11" "111959685" "111959694" "del" "0" "01713" "SDHD_000141" "g.111959685_111959694del" "" "{PMID:Piccini:22241717}" "" "c.263_272delCTCTGCGATG / p.Cys88TrpfsX22" "" "Germline" "" "" "0" "" "" "g.112088961_112088970del" "" "pathogenic" "" "0000116822" "1" "55" "11" "111959689" "111959689" "subst" "0" "01713" "SDHD_000043" "g.111959689G>A" "" "{PMID:Cascon:14985401}" "" "" "Align GVGD: Class C55 (likely to affect function). Small nonpolar to small polar AA. Poorly conserved, Tm1 domain, medium/low Grantham score (77). Ala90 variants found over 40 times in gnomAD." "Germline" "" "" "0" "" "" "g.112088965G>A" "" "VUS" "" "0000116823" "0" "59" "11" "111959692" "111959703" "del" "0" "01713" "SDHD_000079" "g.111959692_111959703del" "" "{PMID:Neumayer:17576205}" "" "Deletion of four amino acids" "Deletes region between Tm1 and Tm2, including classic founder pathogenic AA Asp92." "Germline" "" "" "0" "" "" "g.112088968_112088979del" "" "pathogenic" "" "0000116824" "1" "99" "11" "111959695" "111959695" "subst" "0" "01713" "SDHD_000004" "g.111959695G>T" "" "{PMID:Baysal:10657297}, {PMID:Taschner:11391798}, {PMID:Neumann:12000816}, {PMID:Neumann:15328326}, {PMID:Dannenberg:12114404}, {PMID:Douwes Dekker:15095273}, {PMID:Badenhop:15235042}" "" "D92Y, GAC->TAC, Asp92->Tyr, g,7872 G->T, G274T, Codon 92, Asp toTyr, 274G>T/" "Dutch founder mutation, cosegregation in 24 Dutch families, Germany/Poland, 0/50 controls, 0/100 controls, 0/300 controls. LOH in tumor. Conserved, affects Tm2?" "SUMMARY record" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000116825" "0" "95" "11" "111959695" "111959700" "del" "0" "01655" "SDHD_000126" "g.111959695_111959700del" "" "" "" "" "Partially deletes Tm2, including classic founder pathogenic AA Asp92." "Unknown" "" "" "0" "" "" "g.112088971_112088976del" "" "pathogenic" "" "0000116826" "1" "55" "11" "111959697" "111959699" "del" "0" "01713" "SDHD_000038" "g.111959697_111959699del" "" "{PMID:Badenhop:11391796}" "" "loss of Tyr-93" "" "Germline" "" "" "0" "" "" "g.112088973_112088975del" "" "likely pathogenic" "" "0000116827" "1" "59" "11" "111959698" "111959698" "del" "0" "01713" "SDHD_000037" "g.111959698del" "" "{PMID:Dannenberg:12114404}, {PMID:Persu:18551016}" "" "Frameshift" "" "Germline" "" "" "0" "" "" "g.112088974del" "" "pathogenic" "" "0000116828" "1" "55" "11" "111959699" "111959699" "subst" "0.00010152" "01713" "SDHD_000014" "g.111959699A>G" "" "{PMID:De Preter:15331017}" "" "Y93C" "Align GVGD: Class C65 (most likely to affect function). Large polar to small polar AA. Conserved only in mammals, Tm2 domain, v.high Grantham score (194). Found 37 times in gnomAD. Next to confirmed pathogenic variant." "Germline" "" "" "0" "" "" "g.112088975A>G" "" "VUS" "" "0000116829" "1" "59" "11" "111959700" "111959700" "subst" "0" "01043" "SDHD_000053" "g.111959700T>G" "" "DBSubm001" "" "" "" "Unknown" "" "" "0" "" "" "g.112088976T>G" "" "pathogenic" "" "0000116830" "1" "59" "11" "111959705" "111959705" "subst" "0" "01713" "SDHD_000039" "g.111959705T>C" "" "{PMID:Taschner:11391798}, {PMID:Cremers:12218630}, {PMID:Dannenberg:12114404}, {PMID:Korpershoek:17102080}, {PMID:Korpershoek:17639058}" "" "g.7882 T->C, L95P, CTG->CCG, Leu->Pro" "Proven pathogenic variant, Dutch founder mutation, present in >5 families, 0/50 controls, only moderately conserved (other evolutionary AA variants have v.low Grantham scores), affects Tm2. Medium Grantham score (98)" "Germline" "" "" "0" "" "" "g.112088981T>C" "" "pathogenic" "" "0000116831" "1" "59" "11" "111959708" "111959708" "dup" "0" "01043" "SDHD_000072" "g.111959708dup" "" "DBSubm001" "" "" "" "Unknown" "" "" "0" "" "" "g.112088984dup" "" "pathogenic" "" "0000116832" "1" "59" "11" "111959717" "111959717" "del" "4.06065E-6" "01713" "SDHD_000040" "g.111959717del" "" "{PMID:Astuti:14974914}, {PMID:Badenhop:15235042}" "" "c.296delT, Frameshift after A98" "" "Germline" "" "" "0" "" "" "g.112088993del" "" "pathogenic" "" "0000116833" "0" "75" "11" "111959723" "111959723" "subst" "0" "01713" "SDHD_000105" "g.111959723T>C" "" "{PMID:Cascon:19258401}" "" "" "Align GVGD: Class C65 (most likely to affect function). Both large nonpolar AAs. Poorly conserved, medium Grantham score (98).\r\nlocated in Tm2." "Germline" "" "" "0" "" "" "g.112088999T>C" "" "VUS" "" "0000116834" "0" "77" "11" "111959725" "111959725" "subst" "0" "01713" "SDHD_000140" "g.111959725C>T" "" "{PMID:Bacca:22290790}, {PMID:Piccini:22241717}" "" "" "Probably damaging, Polyphen 2; Align GVGD: Class C65 (most likely to affect function). Similar large polar AAs. Moderately conserved, low to medium Grantham score (83). Located in Tm2." "Germline" "" "" "0" "" "" "g.112089001C>T" "" "likely pathogenic" "" "0000116835" "0" "75" "11" "111959726" "111959726" "subst" "4.06065E-6" "01713" "SDHD_000139" "g.111959726A>G" "" "{PMID:Poeppel:22025150}" "" "p.H102R" "Align GVGD: Class C65 (most likely to affect function).Large polar to large polar charged AA. Moderately conserved, v.low Grantham score (29). Located in Tm2." "Germline" "" "" "0" "" "" "g.112089002A>G" "" "VUS" "" "0000116836" "1" "57" "11" "111959726" "111959726" "subst" "0" "01713" "SDHD_000005" "g.111959726A>T" "" "{PMID:Baysal:10657297}" "" "CAT->CTT, His102->Leu," "Align GVGD: Class C65 (most likely to affect function). Large polar AA to large nonpolar AA. Moderately conserved, located in Tm2 and Uq binding domain, medium Grantham score (99)." "Germline" "" "" "0" "" "" "g.112089002A>T" "" "likely pathogenic" "" "0000116837" "0" "77" "11" "111959732" "111959732" "subst" "0" "01659" "SDHD_000138" "g.111959732A>C" "" "" "" "" "Align GVGD: Class C65 (most likely to affect function). Large polar AA to large nonpolar AA. Conserved in fungi, located in Tm2 and Uq binding domain, low to medium Grantham score (77)." "Unknown" "" "" "0" "" "" "g.112089008A>C" "" "likely pathogenic" "" "0000116838" "1" "57" "11" "111959735" "111959738" "del" "0" "01713" "SDHD_000044" "g.111959735_111959738del" "" "{PMID:De Preter:15331017}" "" "g.79124del(GGCA) exon 3 skip" "" "Germline" "" "" "0" "" "" "g.112089011_112089014del" "" "likely pathogenic" "" "0000116839" "1" "59" "11" "111959736" "111959736" "subst" "0" "01713" "SDHD_000060" "g.111959736G>A" "" "{PMID:Benn:16317055}" "" "c.IVS3+1G>A Aberrant splicing?" "" "Germline" "" "" "0" "" "" "g.112089012G>A" "" "likely pathogenic" "" "0000116840" "0" "57" "11" "111959736" "111959736" "subst" "0" "01713" "SDHD_000087" "g.111959736G>C" "" "{PMID:Persu:18551016}" "" "Abberrant splicing" "" "Germline" "" "" "0" "" "" "g.112089012G>C" "" "likely pathogenic" "" "0000116841" "0" "99" "11" "111965531" "111965531" "del" "0" "01713" "SDHD_000106" "g.111965531del" "" "{PMID:Cascon:19258401}" "" "" "" "Germline" "" "" "0" "" "" "g.112094807del" "" "pathogenic" "" "0000116842" "0" "99" "11" "111964804" "111968924" "del" "0" "01713" "SDHD_000131" "g.111964804_111968924del" "" "{PMID: Janecke:20111059}" "" "" "Deletion of exon 4 (4994bp)" "Germline" "" "" "0" "" "" "g.112094080_112098200del" "" "pathogenic" "" "0000116843" "1" "51" "11" "111965497" "111965497" "subst" "0.0332107" "01713" "SDHD_000045" "g.111965497T>C" "4.4%" "{PMID:Taschner:11391798}, {PMID:De Preter:15331017}" "" "c.IVS3-32T>C" "" "Germline" "" "" "0" "" "" "g.112094773T>C" "" "VUS" "" "0000116844" "10" "75" "11" "111965527" "111965527" "subst" "0" "01657" "SDHD_000134" "g.111965527A>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.112094803A>C" "" "likely pathogenic" "" "0000116845" "1" "57" "11" "111965531" "111965531" "subst" "0" "01713" "SDHD_000067" "g.111965531G>A" "" "{PMID:Ogawa:17041923}, {PMID:Mannelli:17102085}" "" "G106D" "Align GVGD: Class C65 (most likely to affect function). V. small polar AA to large polar charged AA. Highly conserved, located in Tm2 and Uq binding domain, medium Grantham score (94)." "Germline" "" "" "0" "" "" "g.112094807G>A" "" "likely pathogenic" "" "0000116846" "0" "77" "11" "111965531" "111965531" "subst" "0" "01652" "SDHD_000067" "g.111965531G>A" "" "{PMID:Yamashita:19550080}" "" "G106D" "" "Unknown" "" "" "0" "" "" "g.112094807G>A" "" "likely pathogenic" "" "0000116847" "0" "97" "11" "111965531" "111965531" "subst" "0" "01655" "SDHD_000067" "g.111965531G>A" "" "" "" "G106D" "" "Unknown" "" "" "0" "" "" "g.112094807G>A" "" "pathogenic" "" "0000116848" "0" "97" "11" "111965531" "111965531" "subst" "0" "01713" "SDHD_000112" "g.111965531G>T" "" "{PMID:Neumann:19351833}" "" "" "" "Germline" "" "" "0" "" "" "g.112094807G>T" "" "pathogenic" "" "0000116849" "1" "59" "11" "111965539" "111965539" "subst" "0" "01713" "SDHD_000046" "g.111965539C>T" "" "{PMID:Baysal:11897817}, {PMID:Simi:16061558}, {PMID:Petramala:18463041}, {PMID:Bacca:22290790}, {PMID:Piccini:22241717}" "" "c.325C>T Q109X" "Italian founder mutation" "Germline" "" "" "0" "" "" "g.112094815C>T" "" "pathogenic" "" "0000116850" "1" "53" "11" "111965545" "111965545" "subst" "1.2212E-5" "01645" "SDHD_000070" "g.111965545G>A" "" "DBSubm015" "" "" "Align GVGD: Class C25 (unlikely to affect function). Similar nonpolar AAs. Poorly conserved, located in Tm2 and Uq binding domain, v. low Grantham score (29) and isoleucine found in other species." "Unknown" "" "" "0" "" "" "g.112094821G>A" "" "likely benign" "" "0000116851" "1" "59" "11" "111965551" "111965554" "del" "0" "01713" "SDHD_000022" "g.111965551_111965554del" "" "{PMID:Amar:16314641}, {PMID:Benn:16317055}" "" "p.Thr112fs, T112fsX133" "" "Germline" "" "" "0" "" "" "g.112094827_112094830del" "" "pathogenic" "" "0000116852" "1" "55" "11" "111965549" "111965549" "subst" "4.0705E-6" "01713" "SDHD_000066" "g.111965549C>T" "" "{PMID:Simi:16061558}, {PMID:Mannelli:17102085 }" "" "" "Identified in Q109X family (Simi et al). Align GVGD: Class C65 (most likely to affect function). Polar AA to nonpolar AA. Highly conserved, located in Tm2 and Uq binding domain, medium Grantham score (89). Valine and Isoleucine found in other species." "Germline" "" "" "0" "" "" "g.112094825C>T" "" "VUS" "" "0000116853" "1" "59" "11" "111965551" "111965552" "ins" "0" "01713" "SDHD_000006" "g.111965551_111965552insT" "" "{PMID:Milunsky:11343322}" "" "13732insT" "" "Germline" "" "" "0" "" "" "g.112094827_112094828insT" "" "pathogenic" "" "0000116854" "1" "59" "11" "111965551" "111965554" "del" "0" "01713" "SDHD_000022" "g.111965551_111965554del" "" "{PMID:Sevilla:19393419}, {PMID:Cascon:12111639}, {PMID:Neumann:15328326}, {PMID:Velasco:15905695}, {PMID:Castellano:17102082}, {PMID:Lima:17848412}" "" "13732delGACT, 337-340 del GACT" "" "Germline" "" "" "0" "" "" "g.112094827_112094830del" "" "pathogenic" "" "0000116855" "1" "99" "11" "111965555" "111965555" "subst" "0" "01713" "SDHD_000007" "g.111965555A>G" "" "{PMID:Milunsky:11343322}, {PMID:Neumann:15328326}, {PMID:Benn:16317055}, {PMID:Braun:16080530}, {PMID:Schiavi:17102086}, {PMID:Antonello: 18692411}, {PMID:Fish:17563904}, {PMID:Piccini:22241717}" "" "Y114C, 341A/G Tyr114->Cys" "Predominantly German mutation, 0/300 controls, somatic mutation (Braun)? Endemic in ethnic German Northern Italian valleys, see Schiavi F, et al. J Clin Endocrinol Metab. 2012;97(4). Align GVGD: Class C65 (most likely to affect function). Large polar AA to small polar AA. Conserved, located in Tm2 and Uq binding domain, v. high Grantham score (194)." "Somatic" "" "" "0" "" "" "g.112094831A>G" "" "pathogenic" "" "0000116856" "11" "97" "11" "111965555" "111965555" "subst" "0" "01655" "SDHD_000007" "g.111965555A>G" "" "" "" "Y114C" "" "Unknown" "" "" "0" "" "" "g.112094831A>G" "" "pathogenic" "" "0000116857" "11" "99" "11" "111965555" "111965556" "del" "0" "01657" "SDHD_000133" "g.111965555_111965556del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.112094831_112094832del" "" "pathogenic" "" "0000116858" "1" "59" "11" "111965555" "111965556" "del" "0" "01713" "SDHD_000081" "g.111965555_111965556del" "" "{PMID:Benn:16317055}" "" "Y114CfsX162" "" "Germline" "" "" "0" "" "" "g.112094831_112094832del" "" "pathogenic" "" "0000116859" "0" "59" "11" "111965556" "111965556" "subst" "0" "01713" "SDHD_000083" "g.111965556T>A" "" "" "" "p.Y114X" "" "Germline" "" "" "0" "" "" "g.112094832T>A" "" "pathogenic" "" "0000116860" "0" "55" "11" "111965568" "111965568" "subst" "4.07203E-6" "01713" "SDHD_000100" "g.111965568T>G" "" "{PMID:Takahashi:16061554}" "" "D119E" "Align GVGD: Class C35 (less likely to affect function). Both polar charged AAs. Poorly conserved, located in Tm2 and Uq binding domain, low Grantham score (45)." "Germline" "" "" "0" "" "" "g.112094844T>G" "" "VUS" "" "0000116861" "1" "59" "11" "111965575" "111965575" "subst" "0" "01713" "SDHD_000047" "g.111965575C>T" "" "{PMID:Neumann:12000816}, {PMID:Neumann:15328326}" "" "C361T, Codon 121 Gln to Stop, 361C/T Gln121->Stop" "" "Germline" "" "" "0" "" "" "g.112094851C>T" "" "pathogenic" "" "0000116862" "1" "59" "11" "111965580" "111965580" "del" "0" "01713" "SDHD_000062" "g.111965580del" "" "{PMID:Amar:16314641}" "" "p.Ala123fs" "" "Germline" "" "" "0" "" "" "g.112094856del" "" "pathogenic" "" "0000116863" "0" "55" "11" "111965581" "111965581" "subst" "0" "01713" "SDHD_000130" "g.111965581G>A" "" "{PMID: Hermsen:20208144}" "" "" "Align GVGD: Class C55 (likely to affect function). Small nonpolar AA to small polar AA. Poorly conserved, low Grantham score (58)." "Germline" "" "" "0" "" "" "g.112094857G>A" "" "VUS" "" "0000116864" "0" "99" "11" "111965584" "111965584" "del" "0" "01713" "SDHD_000113" "g.111965584del" "" "{PMID:Neumann:19351833}" "" "" "" "Germline" "" "" "0" "" "" "g.112094860del" "" "pathogenic" "" "0000116865" "11" "79" "11" "111965585" "111965604" "delins" "0" "01657" "SDHD_000136" "g.111965585_111965604delinsGG" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.112094861_112094880delinsGG" "" "likely pathogenic" "" "0000116866" "0" "59" "11" "111965595" "111965595" "del" "0" "01713" "SDHD_000029" "g.111965595del" "" "{PMID:Baysal:11897817 }" "" "c.381-383delG, L128fsX134" "" "Germline" "" "" "0" "" "" "g.112094871del" "" "pathogenic" "" "0000116867" "1" "59" "11" "111965600" "111965601" "dup" "0" "01648" "SDHD_000076" "g.111965600_111965601dup" "" "Garcia-Rostan{PMID:Sevilla:19393419}" "" "" "" "Unknown" "" "" "0" "" "" "g.112094876_112094877dup" "" "pathogenic" "" "0000116868" "0" "59" "11" "111965619" "111965619" "del" "0" "01713" "SDHD_000090" "g.111965619del" "" "{PMID:Persu:18551016}" "" "c.404delC, p.T135PfsX33" "" "Germline" "" "" "0" "" "" "g.112094895del" "" "pathogenic" "" "0000116869" "0" "99" "11" "111965622" "111965622" "del" "0" "01713" "SDHD_000098" "g.111965622del" "" "{PMID:Neumann:19351833}" "" "" "" "Germline" "" "" "0" "" "" "g.112094898del" "" "pathogenic" "" "0000116870" "0" "75" "11" "111965625" "111965625" "del" "0" "01657" "SDHD_000135" "g.111965625del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.112094901del" "" "pathogenic" "" "0000116871" "0" "75" "11" "111965625" "111965625" "del" "0" "01657" "SDHD_000135" "g.111965625del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.112094901del" "" "pathogenic" "" "0000116872" "0" "75" "11" "111965625" "111965625" "del" "0" "01657" "SDHD_000135" "g.111965625del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.112094901del" "" "pathogenic" "" "0000116873" "1" "59" "11" "111965630" "111965630" "subst" "0" "01713" "SDHD_000016" "g.111965630T>C" "" "{PMID:Taschner:11391798}, {PMID:Douwes Dekker:15095273}, {PMID:Dannenberg:12114404}" "" "g.13811 T->C, L139P, CTT->CCT Leu->Pro" "Dutch founder mutation, 0/50 controls, cosegregation in 7 Dutch families. LOH in tumor, semi-conserved, affects Tm3?" "Germline" "" "" "0" "" "" "g.112094906T>C" "" "pathogenic" "" "0000116874" "0" "99" "11" "111965632" "111965632" "del" "0" "01713" "SDHD_000103" "g.111965632del" "" "{PMID:Fakhry:17987308}" "" "C418 del T" "" "Germline" "" "" "0" "" "" "g.112094908del" "" "pathogenic" "" "0000116875" "0" "73" "11" "111965647" "111965647" "subst" "8.22443E-6" "01713" "SDHD_000082" "g.111965647C>A" "" "{PMID:Ni:18678321}" "" "" "Align GVGD: Class C65 (most likely to affect function). Both large polar AAs. Poorly conserved, low Grantham score (68)." "Germline" "" "" "0" "" "" "g.112094923C>A" "" "likely benign" "" "0000116876" "1" "59" "11" "111965657" "111965657" "del" "0" "01713" "SDHD_000049" "g.111965657del" "" "{PMID:Neumann:15328326}" "" "441 del G Frameshift" "" "Germline" "" "" "0" "" "" "g.112094933del" "" "likely pathogenic" "" "0000116877" "1" "59" "11" "111965657" "111965657" "del" "0" "01713" "SDHD_000009" "g.111965657del" "" "{PMID:Milunsky:11343322}, {PMID:Novosel:15365827}" "" "13838delG" "" "Germline" "" "" "0" "" "" "g.112094933del" "" "likely pathogenic" "" "0000116878" "1" "55" "11" "111965657" "111965657" "subst" "0" "01713" "SDHD_000063" "g.111965657G>A" "" "{PMID:Benn:16317055}, {PMID:Timmers:17973943}" "" "G148D" "Align GVGD: Class C65 (most likely to affect function). Very small polar AA to larger polar charged AA. Highly conserved, medium Grantham score (95)." "Germline" "" "" "0" "" "" "g.112094933G>A" "" "likely pathogenic" "" "0000116879" "1" "55" "11" "111965657" "111965657" "subst" "0" "01713" "SDHD_000050" "g.111965657G>T" "" "{PMID:Neumann:15328326}" "" "443 G/T Gly148->Val" "0/300 controls, Align GVGD: Class C65 (most likely to affect function). Very small polar AA to small nonpolar AA. Highly conserved, medium Grantham score (109)." "Germline" "" "" "0" "" "" "g.112094933G>T" "" "likely pathogenic" "" "0000116880" "1" "51" "11" "111965658" "111965658" "subst" "0" "01713" "SDHD_000051" "g.111965658C>N" ">1.0%" "{PMID:Cascon:14985401}" "" "p.Gly148Gly" "0/150-200 controls, Polymorphism" "Germline" "" "" "0" "" "" "g.112094934C>N" "" "likely benign" "" "0000116881" "1" "57" "11" "111965659" "111965662" "dup" "0" "01642" "SDHD_000055" "g.111965659_111965662dup" "" "DBSubm006 {PMID:Petramala:19027316}, {PMID:Prontera:19239085}, {PMID:Bacca:22290790}" "" "" "" "Germline" "" "" "0" "" "" "g.112094935_112094938dup" "" "likely pathogenic" "" "0000116882" "1" "55" "11" "111965660" "111965660" "subst" "0" "01713" "SDHD_000064" "g.111965660T>A" "" "{PMID:Amar 2005:16314641}, {PMID:Benn 2006:16317055}" "" "I149N" "Align GVGD: Class C65 (most likely to affect function). Very small polar AA to larger polar charged AA. Poorly conserved, high/v.high Grantham score (149)." "Germline" "" "" "0" "" "" "g.112094936T>A" "" "VUS" "" "0000116883" "1" "55" "11" "111965662" "111965664" "del" "0" "01713" "SDHD_000144" "g.111965662_111965664del" "" "{PMID:Amar 2005:16314641}, {PMID:Benn 2006:16317055}" "" "C150del" "Poorly conserved" "Germline" "" "" "0" "" "" "g.112094938_112094940del" "" "VUS" "" "0000116884" "1" "55" "11" "111965677" "111965677" "del" "0" "01713" "SDHD_000020" "g.111965677del" "" "{PMID:Leube:15032977}" "" "c.463delA exon 4 Frameshift" "" "Germline" "" "" "0" "" "" "g.112094953del" "" "likely pathogenic" "" "0000128305" "1" "50" "11" "111957633" "111957633" "subst" "0" "01713" "SDHD_000170" "g.111957633T>C" "" "{PMID:Buffet:22517557}" "" "" "No start codon. First ATG out of frame" "Unknown" "" "" "0" "" "" "g.112086909T>C" "" "pathogenic" "" "0000128306" "1" "50" "11" "111957650" "111957666" "del" "0" "01713" "SDHD_000165" "g.111957650_111957666del" "" "{PMID:Rapizzi:22323561}" "" "c.19_35delCTGAGTGCCGTTTGCGG" "" "Somatic" "" "" "0" "" "" "g.112086926_112086942del" "" "pathogenic" "" "0000128307" "1" "50" "11" "111958667" "111958667" "subst" "0" "01713" "SDHD_000169" "g.111958667C>T" "" "{PMID:Buffet:22517557}" "" "" "" "Unknown" "" "" "0" "" "" "g.112087943C>T" "" "pathogenic" "" "0000128308" "1" "50" "11" "111958647" "111958653" "del" "0" "01713" "SDHD_000168" "g.111958647_111958653del" "" "{PMID:Buffet:22517557}" "" "" "" "Unknown" "" "" "0" "" "" "g.112087923_112087929del" "" "pathogenic" "" "0000128309" "1" "50" "11" "111958694" "111958694" "del" "0" "01713" "SDHD_000146" "g.111958694del" "" "{PMID:Buffet:22517557}" "" "" "" "Unknown" "" "" "0" "" "" "g.112087970del" "" "pathogenic" "" "0000128310" "1" "50" "11" "111958677" "111958677" "dup" "0" "01713" "SDHD_000057" "g.111958677dup" "" "{PMID:Buffet:22517557}" "" "" "" "Unknown" "" "" "0" "" "" "g.112087953dup" "" "pathogenic" "" "0000128311" "1" "55" "11" "111958686" "111958686" "subst" "4.06171E-5" "01713" "SDHD_000145" "g.111958686C>T" "" "{PMID:Lefebvre:22517554}" "" "" "Conserved in fungi. Found 12 times in gnomAD. Medium Grantham score (98). VUS/likely pathogenic?" "Unknown" "" "" "0" "" "" "g.112087962C>T" "" "VUS" "" "0000128312" "1" "50" "11" "111958529" "111958532" "del" "0" "01713" "SDHD_000166" "g.111958529_111958532del" "" "{PMID:Persu:22566194}" "" "c.53?52_?55delGTCA" "" "Unknown" "" "" "0" "" "" "g.112087805_112087808del" "" "VUS" "" "0000128313" "1" "50" "11" "111958644" "111958644" "del" "0" "01713" "SDHD_000167" "g.111958644del" "" "{PMID:Persu:22566194}" "" "" "" "Unknown" "" "" "0" "" "" "g.112087920del" "" "pathogenic" "" "0000128314" "1" "50" "11" "111959589" "111959589" "subst" "0" "01713" "SDHD_000147" "g.111959589A>T" "" "{PMID:Buffet:22517557}" "" "" "" "Unknown" "" "" "0" "" "" "g.112088865A>T" "" "VUS" "" "0000128315" "1" "50" "11" "111959696" "111959707" "del" "0" "01713" "SDHD_000153" "g.111959696_111959707del" "" "{PMID:Buffet:22517557}" "" "" "Partially deletes Tm2, including classic founder pathogenic AA Asp92." "Unknown" "" "" "0" "" "" "g.112088972_112088983del" "" "pathogenic" "" "0000128316" "1" "57" "11" "111959630" "111959630" "subst" "0" "01713" "SDHD_000148" "g.111959630G>C" "" "{PMID:Buffet:22517557}" "" "" "Align GVGD: Class C65 (most likely to affect function). Large charged polar AA to small polar AA. Conserved but Grantham score only 71." "Unknown" "" "" "0" "" "" "g.112088906G>C" "" "likely pathogenic" "" "0000128317" "1" "57" "11" "111959660" "111959660" "subst" "0" "01713" "SDHD_000150" "g.111959660T>G" "" "{PMID:Buffet:22517557}" "" "" "Align GVGD: Class C65 (most likely to affect function). Large nonpolar AA to large charged polar AA. Poorly conserved AA but alternative AAs found in fungi and bacteria all very similar to Leucine, medium Grantham score (98). Proximal to known pathogenic P81L site, which is also relatively poorly conserved. Found in patients around the world but not in gnomAD." "Unknown" "" "" "0" "" "" "g.112088936T>G" "" "likely pathogenic" "" "0000128318" "1" "57" "11" "111959726" "111959726" "subst" "0" "01713" "SDHD_000156" "g.111959726A>C" "" "{PMID:Buffet:22517557}" "" "" "Align GVGD: Class C65. Align GVGD: Class C65 (most likely to affect function). Polar AA to similar but nonpolar AA. Moderately conserved, low to medium Grantham score (77).\r\nlocated in Tm2." "Unknown" "" "" "0" "" "" "g.112089002A>C" "" "likely pathogenic" "" "0000128319" "1" "55" "11" "111959733" "111959733" "subst" "0" "01713" "SDHD_000157" "g.111959733C>G" "" "{PMID:Buffet:22517557}" "" "" "Align GVGD: Class C15 (unlikely to affect function). Both similar sized, polar uncharged AAs. Conserved AA in fungi but variant has a v. low Grantham score (24)." "Unknown" "" "" "0" "" "" "g.112089009C>G" "" "VUS" "" "0000128320" "1" "50" "11" "111959645" "111959645" "del" "0" "01713" "SDHD_000149" "g.111959645del" "" "{PMID:Buffet:22517557}" "" "" "" "Unknown" "" "" "0" "" "" "g.112088921del" "" "pathogenic" "" "0000128321" "1" "50" "11" "111959663" "111959663" "del" "0" "01713" "SDHD_000151" "g.111959663del" "" "{PMID:Buffet:22517557}" "" "" "" "Unknown" "" "" "0" "" "" "g.112088939del" "" "pathogenic" "" "0000128322" "1" "50" "11" "111959681" "111959681" "del" "0" "01713" "SDHD_000152" "g.111959681del" "" "{PMID:Buffet:22517557}" "" "" "" "Unknown" "" "" "0" "" "" "g.112088957del" "" "pathogenic" "" "0000128323" "1" "55" "11" "111959711" "111959711" "subst" "4.06062E-6" "01713" "SDHD_000154" "g.111959711C>T" "" "{PMID:Canu:24758185}" "" "" "Align GVGD: Class C55 (likely to affect function). Close to proven pathogenic variant, poorly conserved (other evolutionary AA variants have medium Grantham scores), located in Tm2. Low Grantham score (64)." "Unknown" "" "" "0" "" "" "g.112088987C>T" "" "VUS" "" "0000128324" "1" "50" "11" "111959733" "111959733" "subst" "0.00175424" "01713" "SDHD_000158" "g.111959733C>T" "" "{PMID:Rattenberry:23666964}" "" "c.[242C>T];[=]" "VUS" "Unknown" "" "" "0" "" "" "g.112089009C>T" "" "VUS" "" "0000128325" "1" "59" "11" "111959719" "111959722" "del" "0" "01713" "SDHD_000155" "g.111959719_111959722del" "" "{PMID:Xekouki:22170724}" "" "" "LOH" "Unknown" "" "" "0" "" "" "g.112088995_112088998del" "" "pathogenic" "" "0000128326" "1" "50" "11" "111965527" "111965527" "subst" "0" "01713" "SDHD_000134" "g.111965527A>C" "" "{PMID:Buffet:22517557}" "" "" "" "Unknown" "" "" "0" "" "" "g.112094803A>C" "" "VUS" "" "0000128327" "1" "57" "11" "111965530" "111965530" "subst" "0" "01713" "SDHD_000160" "g.111965530G>C" "" "{PMID:Buffet:22517557}" "" "" "Align GVGD: Class C65. Align GVGD: Class C65 (most likely to affect function). V. small polar AA to large charged polar AA. Conserved, located in Tm2 and Uq binding domain, medium to high Grantham score (125)." "Unknown" "" "" "0" "" "" "g.112094806G>C" "" "likely pathogenic" "" "0000128328" "1" "50" "11" "111965540" "111965540" "subst" "0" "01713" "SDHD_000161" "g.111965540A>T" "" "{PMID:Buffet:22517557}" "" "" "Align GVGD: Class C65 (most likely to affect function). Large polar AA to large nonpolar AA. Highly conserved, located in Tm2 and Uq binding domain, medium to high Grantham score (113)." "Unknown" "" "" "0" "" "" "g.112094816A>T" "" "likely pathogenic" "" "0000128329" "1" "50" "11" "111965619" "111965619" "del" "0" "01713" "SDHD_000090" "g.111965619del" "" "{PMID:Buffet:22517557}, {PMID:Persu:18551016}" "" "c.404delC, p.T135PfsX33" "" "Unknown" "" "" "0" "" "" "g.112094895del" "" "pathogenic" "" "0000128330" "1" "50" "11" "111965693" "111965694" "ins" "0" "01713" "SDHD_000164" "g.111965693_111965694insGT" "" "{PMID:Buffet:22517557}" "" "" "Frameshift at stop codon" "Unknown" "" "" "0" "" "" "g.112094969_112094970insGT" "" "VUS" "" "0000128331" "1" "50" "11" "111965625" "111965625" "del" "0" "01713" "SDHD_000135" "g.111965625del" "" "{PMID:Domingues:22293219}" "" "" "" "Unknown" "" "" "0" "" "" "g.112094901del" "" "pathogenic" "" "0000128332" "1" "50" "11" "111965585" "111965604" "delins" "0" "01713" "SDHD_000136" "g.111965585_111965604delinsGG" "" "{PMID:Domingues:22293219}" "" "" "" "Unknown" "" "" "0" "" "" "g.112094861_112094880delinsGG" "" "VUS" "" "0000128333" "1" "50" "11" "111965527" "111965527" "subst" "0" "01713" "SDHD_000159" "g.111965527A>G" "" "{PMID:Lefebvre:22517554}" "" "" "" "Unknown" "" "" "0" "" "" "g.112094803A>G" "" "VUS" "" "0000128334" "1" "50" "11" "111965566" "111965566" "del" "0" "01713" "SDHD_000163" "g.111965566del" "" "{PMID:Miettinen:23282968}" "" "" "" "Unknown" "" "" "0" "" "" "g.112094842del" "" "pathogenic" "" "0000128335" "1" "50" "11" "111965544" "111965545" "ins" "0" "01713" "SDHD_000162" "g.111965544_111965545ins27" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000239643" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239644" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239645" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239646" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239647" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239648" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239649" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239650" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239651" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239652" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239653" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239654" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239655" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239656" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239657" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239658" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239659" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239660" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239661" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239662" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239663" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239664" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239665" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239666" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239667" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239668" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239669" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239670" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239671" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239672" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239673" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239674" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239675" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239676" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239677" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239678" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239679" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239680" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239681" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239682" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239683" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239684" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239685" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239686" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239687" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239688" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239689" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239690" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239691" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239692" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239693" "11" 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2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239816" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239817" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239818" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239819" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" "SDHD_000004" "g.111959695G>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000239820" "11" "99" "11" "111959663" "111959663" "subst" "1.62467E-5" "02351" "SDHD_000003" "g.111959663C>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088939C>T" "" "pathogenic" "" "0000239821" "11" "99" "11" "111965630" "111965630" "subst" "0" "02351" "SDHD_000016" "g.111965630T>C" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112094906T>C" "" "pathogenic" "" "0000239822" "11" "99" "11" "111965630" "111965630" "subst" "0" "02351" "SDHD_000016" "g.111965630T>C" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112094906T>C" "" "pathogenic" "" "0000239823" "11" "99" "11" "111965630" "111965630" "subst" "0" "02351" "SDHD_000016" "g.111965630T>C" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112094906T>C" "" "pathogenic" "" "0000239824" "11" "99" "11" "111965630" "111965630" "subst" "0" "02351" "SDHD_000016" "g.111965630T>C" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112094906T>C" "" "pathogenic" "" "0000239825" "11" "99" "11" "111965630" "111965630" "subst" "0" "02351" "SDHD_000016" "g.111965630T>C" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112094906T>C" "" "pathogenic" "" "0000239826" "11" "99" "11" "111965630" "111965630" "subst" "0" "02351" "SDHD_000016" "g.111965630T>C" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112094906T>C" "" "pathogenic" "" "0000239827" "11" "99" "11" "111965630" "111965630" "subst" "0" "02351" "SDHD_000016" "g.111965630T>C" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112094906T>C" "" "pathogenic" "" "0000239828" "11" "99" "11" "111965630" "111965630" "subst" "0" "02351" "SDHD_000016" "g.111965630T>C" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112094906T>C" "" "pathogenic" "" "0000239829" "11" "99" "11" "111965630" "111965630" "subst" "0" "02351" "SDHD_000016" "g.111965630T>C" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112094906T>C" "" "pathogenic" "" "0000239830" "11" "99" "11" "111965630" "111965630" "subst" "0" "02351" "SDHD_000016" "g.111965630T>C" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112094906T>C" "" "pathogenic" "" "0000239831" "11" "99" "11" "111965630" "111965630" "subst" "0" "02351" "SDHD_000016" "g.111965630T>C" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112094906T>C" "" "pathogenic" "" "0000239832" "11" "99" "11" "111965630" "111965630" "subst" "0" "02351" "SDHD_000016" "g.111965630T>C" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112094906T>C" "" "pathogenic" "" "0000239833" "11" "99" "11" "111965630" "111965630" "subst" "0" "02351" "SDHD_000016" "g.111965630T>C" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112094906T>C" "" "pathogenic" "" "0000239834" "11" "99" "11" "111965630" "111965630" "subst" "0" "02351" "SDHD_000016" "g.111965630T>C" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112094906T>C" "" "pathogenic" "" "0000239835" "11" "99" "11" "111965630" "111965630" "subst" "0" "02351" "SDHD_000016" "g.111965630T>C" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112094906T>C" "" "pathogenic" "" "0000239836" "11" "99" "11" "111965630" "111965630" "subst" "0" "02351" "SDHD_000016" "g.111965630T>C" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112094906T>C" "" "pathogenic" "" "0000239837" "11" "99" "11" "111965630" "111965630" "subst" "0" "02351" "SDHD_000016" "g.111965630T>C" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112094906T>C" "" "pathogenic" "" "0000239838" "11" "99" "11" "111965630" "111965630" "subst" "0" "02351" "SDHD_000016" "g.111965630T>C" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112094906T>C" "" "pathogenic" "" "0000239839" "11" "99" "11" "111965630" "111965630" "subst" "0" "02351" "SDHD_000016" "g.111965630T>C" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112094906T>C" "" "pathogenic" "" "0000239840" "11" "99" "11" "111965630" "111965630" "subst" "0" "02351" "SDHD_000016" "g.111965630T>C" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112094906T>C" "" "pathogenic" "" "0000239841" "11" "99" "11" "111965630" "111965630" "subst" "0" "02351" "SDHD_000016" "g.111965630T>C" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112094906T>C" "" "pathogenic" "" "0000239842" "11" "99" "11" "111965630" "111965630" "subst" "0" "02351" "SDHD_000016" "g.111965630T>C" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112094906T>C" "" "pathogenic" "" "0000239843" "11" "99" "11" "111965630" "111965630" "subst" "0" "02351" "SDHD_000016" "g.111965630T>C" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112094906T>C" "" "pathogenic" "" "0000239844" "11" "99" "11" "111965630" "111965630" "subst" "0" "02351" "SDHD_000016" "g.111965630T>C" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112094906T>C" "" "pathogenic" "" "0000239845" "11" "99" "11" "111965630" "111965630" "subst" "0" "02351" "SDHD_000016" "g.111965630T>C" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112094906T>C" "" "pathogenic" "" "0000239846" "11" "99" "11" "111965630" "111965630" "subst" "0" "02351" "SDHD_000016" "g.111965630T>C" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112094906T>C" "" "pathogenic" "" "0000239847" "11" "99" "11" "111965630" "111965630" "subst" "0" "02351" "SDHD_000016" "g.111965630T>C" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112094906T>C" "" "pathogenic" "" "0000239848" "11" "99" "11" "111948804" "111959139" "del" "0" "02351" "SDHD_000121" "g.111948804_111959139del" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "1-8828_169+442del" "" "Germline" "" "" "0" "" "" "g.112078080_112088415del" "" "pathogenic" "" "0000239849" "11" "99" "11" "111948804" "111959139" "del" "0" "02351" "SDHD_000121" "g.111948804_111959139del" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "1-8828_169+442del" "" "Germline" "" "" "0" "" "" "g.112078080_112088415del" "" "pathogenic" "" "0000239850" "11" "99" "11" "111948804" "111959139" "del" "0" "02351" "SDHD_000121" "g.111948804_111959139del" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "1-8828_169+442del" "" "Germline" "" "" "0" "" "" "g.112078080_112088415del" "" "pathogenic" "" "0000239851" "11" "99" "11" "111948804" "111959139" "del" "0" "02351" "SDHD_000121" "g.111948804_111959139del" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "1-8828_169+442del" "" "Germline" "" "" "0" "" "" "g.112078080_112088415del" "" "pathogenic" "" "0000239852" "11" "77" "11" "111958697" "111958706" "del" "0" "02351" "SDHD_000074" "g.111958697_111958706del" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "169_169+9 del TGTATGTTCT" "" "Germline" "" "" "0" "" "" "g.112087973_112087982del" "" "likely pathogenic" "" "0000239853" "11" "77" "11" "111958697" "111958706" "del" "0" "02351" "SDHD_000074" "g.111958697_111958706del" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "169_169+9 del TGTATGTTCT" "" "Germline" "" "" "0" "" "" "g.112087973_112087982del" "" "likely pathogenic" "" "0000239854" "11" "99" "11" "111959705" "111959705" "subst" "0" "02351" "SDHD_000039" "g.111959705T>C" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088981T>C" "" "pathogenic" "" "0000239855" "11" "99" "11" "111959705" "111959705" "subst" "0" "02351" "SDHD_000039" "g.111959705T>C" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088981T>C" "" "pathogenic" "" "0000239856" "11" "99" "11" "111959705" "111959705" "subst" "0" "02351" "SDHD_000039" "g.111959705T>C" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088981T>C" "" "pathogenic" "" "0000239857" "11" "99" "11" "111959705" "111959705" "subst" "0" "02351" "SDHD_000039" "g.111959705T>C" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088981T>C" "" "pathogenic" "" "0000239858" "11" "99" "11" "111959705" "111959705" "subst" "0" "02351" "SDHD_000039" "g.111959705T>C" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088981T>C" "" "pathogenic" "" "0000239859" "11" "99" "11" "111959705" "111959705" "subst" "0" "02351" "SDHD_000039" "g.111959705T>C" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088981T>C" "" "pathogenic" "" "0000239860" "11" "99" "11" "111965551" "111965554" "del" "0" "02351" "SDHD_000022" "g.111965551_111965554del" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "337_340delGACT" "" "Germline" "" "" "0" "" "" "g.112094827_112094830del" "" "pathogenic" "" "0000239861" "11" "99" "11" "111965551" "111965554" "del" "0" "02351" "SDHD_000022" "g.111965551_111965554del" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "337_340delGACT" "" "Germline" "" "" "0" "" "" "g.112094827_112094830del" "" "pathogenic" "" "0000239862" "11" "99" "11" "111957634" "111957634" "subst" "0" "02351" "SDHD_000015" "g.111957634G>C" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "Met1lle" "" "Germline" "" "" "0" "" "" "g.112086910G>C" "" "pathogenic" "" "0000239863" "11" "55" "11" "111959720" "111959720" "subst" "0" "02351" "SDHD_000171" "g.111959720C>T" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "Align GVGD: Class C65 (most likely to affect function). Only moderately conserved (other evolutionary AA variants have low to medium Grantham scores), located in Tm2. Low to medium Grantham score (89)." "Germline" "" "" "0" "" "" "g.112088996C>T" "" "VUS" "" "0000239864" "11" "59" "11" "111959705" "111959705" "subst" "0" "02351" "SDHD_000172" "g.111959705T>G" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "Align GVGD: Class C65 (most likely to affect function). Leu95Pro is a proven pathogenic variant, only moderately conserved (other evolutionary AA variants have v.low Grantham scores), likely affects Tm2. Medium Grantham score (102)." "Germline" "" "" "0" "" "" "g.112088981T>G" "" "likely pathogenic" "" "0000249956" "0" "10" "11" "111958677" "111958677" "subst" "0.00659124" "02329" "SDHD_000019" "g.111958677A>G" "" "" "" "SDHD(NM_001276506.1):c.149A>G (p.H50R), SDHD(NM_003002.4):c.149A>G (p.H50R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112087953A>G" "" "benign" "" "0000254047" "0" "30" "11" "111958677" "111958677" "subst" "0.00659124" "01943" "SDHD_000019" "g.111958677A>G" "" "" "" "SDHD(NM_001276506.1):c.149A>G (p.H50R), SDHD(NM_003002.4):c.149A>G (p.H50R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112087953A>G" "" "likely benign" "" "0000298085" "0" "90" "11" "111965630" "111965630" "subst" "0" "02325" "SDHD_000016" "g.111965630T>C" "" "" "" "SDHD(NM_003002.3):c.416T>C (p.(Leu139Pro)), SDHD(NM_003002.4):c.416T>C (p.L139P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112094906T>C" "" "pathogenic" "" "0000299391" "0" "10" "11" "111957665" "111957665" "subst" "0.00756037" "02329" "SDHD_000011" "g.111957665G>A" "" "" "" "SDHD(NM_001276503.1):c.34G>A (p.(Gly12Ser)), SDHD(NM_001276506.2):c.34G>A (p.G12S), SDHD(NM_003002.4):c.34G>A (p.G12S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112086941G>A" "" "benign" "" "0000299392" "0" "90" "11" "111965630" "111965630" "subst" "0" "02329" "SDHD_000016" "g.111965630T>C" "" "" "" "SDHD(NM_003002.3):c.416T>C (p.(Leu139Pro)), SDHD(NM_003002.4):c.416T>C (p.L139P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112094906T>C" "" "pathogenic" "" "0000299393" "0" "30" "11" "111958581" "111958581" "subst" "6.09246E-5" "02329" "SDHD_000173" "g.111958581C>T" "" "" "" "SDHD(NM_001276506.1):c.53C>T (p.A18V), SDHD(NM_001276506.2):c.53C>T (p.A18V), SDHD(NM_003002.4):c.53C>T (p.A18V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112087857C>T" "" "likely benign" "" "0000302018" "0" "50" "11" "111959601" "111959601" "subst" "0" "02326" "SDHD_000174" "g.111959601G>A" "" "" "" "SDHD(NM_003002.4):c.180G>A (p.K60=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112088877G>A" "" "VUS" "" "0000302019" "0" "10" "11" "111959625" "111959625" "subst" "0.0332881" "02326" "SDHD_000034" "g.111959625C>T" "" "" "" "SDHD(NM_001276504.1):c.87C>T (p.(=)), SDHD(NM_001276506.2):c.204C>T (p.S68=), SDHD(NM_003002.4):c.204C>T (p.S68=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112088901C>T" "" "benign" "" "0000302020" "0" "90" "11" "111959695" "111959695" "subst" "0" "02326" "SDHD_000004" "g.111959695G>T" "" "" "" "SDHD(NM_001276504.1):c.157G>T (p.(Asp53Tyr)), SDHD(NM_003002.4):c.274G>T (p.D92Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000302021" "0" "90" "11" "111959705" "111959705" "subst" "0" "02326" "SDHD_000039" "g.111959705T>C" "" "" "" "SDHD(NM_003002.4):c.284T>C (p.L95P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112088981T>C" "" "pathogenic" "" "0000322501" "0" "50" "11" "111957396" "111957396" "subst" "0" "01804" "TIMM8B_000001" "g.111957396C>T" "" "" "" "TIMM8B(NM_012459.2):c.97G>A (p.(Ala33Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112086672C>T" "" "VUS" "" "0000336999" "0" "30" "11" "111957613" "111957613" "subst" "8.12334E-6" "02327" "SDHD_000175" "g.111957613T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112086889T>C" "" "likely benign" "" "0000337000" "0" "90" "11" "111958698" "111958698" "subst" "0" "02327" "SDHD_000132" "g.111958698G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112087974G>A" "" "pathogenic" "" "0000339286" "0" "10" "11" "111959625" "111959625" "subst" "0.0332881" "02327" "SDHD_000034" "g.111959625C>T" "" "" "" "SDHD(NM_001276504.1):c.87C>T (p.(=)), SDHD(NM_001276506.2):c.204C>T (p.S68=), SDHD(NM_003002.4):c.204C>T (p.S68=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112088901C>T" "" "benign" "" "0000340982" "0" "30" "11" "111959703" "111959703" "subst" "3.65473E-5" "02327" "SDHD_000176" "g.111959703C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112088979C>G" "" "likely benign" "" "0000343883" "0" "90" "11" "111965551" "111965554" "del" "0" "02327" "SDHD_000022" "g.111965551_111965554del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112094827_112094830del" "" "pathogenic" "" "0000344209" "0" "90" "11" "111959695" "111959695" "subst" "0" "02327" "SDHD_000004" "g.111959695G>T" "" "" "" "SDHD(NM_001276504.1):c.157G>T (p.(Asp53Tyr)), SDHD(NM_003002.4):c.274G>T (p.D92Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112088971G>T" "" "pathogenic" "" "0000345687" "0" "10" "11" "111957665" "111957665" "subst" "0.00756037" "02327" "SDHD_000011" "g.111957665G>A" "" "" "" "SDHD(NM_001276503.1):c.34G>A (p.(Gly12Ser)), SDHD(NM_001276506.2):c.34G>A (p.G12S), SDHD(NM_003002.4):c.34G>A (p.G12S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112086941G>A" "" "benign" "" "0000346492" "0" "30" "11" "111958677" "111958677" "subst" "0.00659124" "02327" "SDHD_000019" "g.111958677A>G" "" "" "" "SDHD(NM_001276506.1):c.149A>G (p.H50R), SDHD(NM_003002.4):c.149A>G (p.H50R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112087953A>G" "" "likely benign" "" "0000346887" "0" "90" "11" "111965630" "111965630" "subst" "0" "02327" "SDHD_000016" "g.111965630T>C" "" "" "" "SDHD(NM_003002.3):c.416T>C (p.(Leu139Pro)), SDHD(NM_003002.4):c.416T>C (p.L139P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112094906T>C" "" "pathogenic" "" "0000347349" "0" "90" "11" "111959705" "111959705" "subst" "0" "02327" "SDHD_000039" "g.111959705T>C" "" "" "" "SDHD(NM_003002.4):c.284T>C (p.L95P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112088981T>C" "" "pathogenic" "" "0000542358" "0" "30" "11" "111957665" "111957665" "subst" "0.00756037" "01804" "SDHD_000011" "g.111957665G>A" "" "" "" "SDHD(NM_001276503.1):c.34G>A (p.(Gly12Ser)), SDHD(NM_001276506.2):c.34G>A (p.G12S), SDHD(NM_003002.4):c.34G>A (p.G12S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112086941G>A" "" "likely benign" "" "0000542359" "0" "30" "11" "111958581" "111958581" "subst" "6.09246E-5" "02325" "SDHD_000173" "g.111958581C>T" "" "" "" "SDHD(NM_001276506.1):c.53C>T (p.A18V), SDHD(NM_001276506.2):c.53C>T (p.A18V), SDHD(NM_003002.4):c.53C>T (p.A18V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112087857C>T" "" "likely benign" "" "0000542360" "0" "50" "11" "111958686" "111958686" "subst" "4.06171E-5" "02329" "SDHD_000145" "g.111958686C>T" "" "" "" "SDHD(NM_003002.4):c.158C>T (p.(Pro53Leu), p.P53L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112087962C>T" "" "VUS" "" "0000542361" "0" "10" "11" "111959625" "111959625" "subst" "0.0332881" "02325" "SDHD_000034" "g.111959625C>T" "" "" "" "SDHD(NM_001276504.1):c.87C>T (p.(=)), SDHD(NM_001276506.2):c.204C>T (p.S68=), SDHD(NM_003002.4):c.204C>T (p.S68=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112088901C>T" "" "benign" "" "0000542362" "0" "10" "11" "111959733" "111959733" "subst" "0.00175424" "01943" "SDHD_000158" "g.111959733C>T" "" "" "" "SDHD(NM_001276506.1):c.312C>T (p.H104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112089009C>T" "" "benign" "" "0000613032" "0" "75" "11" "111965555" "111965555" "subst" "0" "02327" "SDHD_000183" "g.111965555A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112094831A>T" "" "likely pathogenic" "" "0000648095" "1" "30" "11" "111957665" "111957665" "subst" "0.00756037" "03575" "SDHD_000011" "g.111957665G>A" "9/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "9 heterozygous; {DB:CLININrs34677591}" "Germline" "" "rs34677591" "0" "" "" "g.112086941G>A" "" "likely benign" "" "0000648096" "1" "50" "11" "111958677" "111958677" "subst" "0.00659124" "03575" "SDHD_000019" "g.111958677A>G" "7/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 7 heterozygous, no homozygous; {DB:CLININrs11214077}" "Germline" "" "rs11214077" "0" "" "" "g.112087953A>G" "" "likely benign" "" "0000660364" "1" "50" "11" "111957665" "111957665" "subst" "0.00756037" "00006" "SDHD_000011" "g.111957665G>A" "" "{PMID:Taylor 2014:25058219}" "" "" "" "Germline" "" "" "0" "" "" "g.112086941G>A" "" "benign" "" "0000660365" "2" "55" "11" "111965600" "111965600" "subst" "0" "00006" "SDHD_000184" "g.111965600T>C" "" "{PMID:Taylor 2014:25058219}" "" "" "Align GVGD: Class C65 (most likely to affect function). Large nonpolar AA to small polar AA. Poorly conserved, high Grantham score (145)." "Germline" "" "" "0" "" "" "g.112094876T>C" "" "VUS" "" "0000660662" "0" "50" "11" "111959660" "111959660" "subst" "0" "01164" "SDHD_000150" "g.111959660T>G" "" "" "" "" "ACMG grading: PM2; paraganglioma at age 30y, glomus-tumor at age 49y, brother paraganglioma at age 34y, father \neck tumor at early age; Burnichon et al. 2009. J Clin Endocrinol Metab 94: 2817; Ricketts et al. 2012. J Urol 188: 2063" "Germline" "" "" "0" "" "" "g.112088936T>G" "" "VUS" "ACMG" "0000665787" "0" "90" "11" "111957664" "111957664" "subst" "0" "01164" "SDHD_000027" "g.111957664C>A" "" "" "" "" "ACMG grading: PS3,PM1,PM2,PP5; Guyant-Marechal et al. 2006. Neurology 67: 644; Hübbers et al. 2007. Brain 130: 381; Krause et al. 2007. Clin Neuropathol 26: 232; Niwa et al. 2012. J Biol Chem 287: 8561; Erzurumlu et al. 2013. Int J Biochem Cell Biol 45: 773" "Germline" "" "rs104894309" "0" "" "" "g.112086940C>A" "" "pathogenic" "ACMG" "0000669100" "3" "30" "11" "111957665" "111957665" "subst" "0.00756037" "03575" "SDHD_000011" "g.111957665G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs34677591}" "Germline" "" "rs34677591" "0" "" "" "g.112086941G>A" "" "likely benign" "" "0000679050" "0" "90" "11" "111959663" "111959663" "subst" "1.62467E-5" "02327" "SDHD_000003" "g.111959663C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000708587" "10" "70" "11" "111965575" "111965575" "subst" "0" "01164" "SDHD_000047" "g.111965575C>T" "" "PMID: 12000816" "" "" "ACMG: PVS1_strong, PM2" "Germline" "?" "" "" "" "" "" "{CV:000239470}" "pathogenic" "ACMG" "0000723194" "0" "30" "11" "111958581" "111958581" "subst" "6.09246E-5" "01943" "SDHD_000173" "g.111958581C>T" "" "" "" "SDHD(NM_001276506.1):c.53C>T (p.A18V), SDHD(NM_001276506.2):c.53C>T (p.A18V), SDHD(NM_003002.4):c.53C>T (p.A18V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804868" "0" "10" "11" "111963776" "111963776" "subst" "0.00619195" "02369" "SDHD_000177" "g.111963776G>T" "" "" "" "SDHD(NM_001276506.2):c.315-28G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000804870" "0" "30" "11" "111963792" "111963792" "subst" "0" "02369" "SDHD_000179" "g.111963792C>T" "" "" "" "SDHD(NM_001276506.2):c.315-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000830281" "0" "90" "11" "111958622" "111958623" "del" "0" "00006" "SDHD_000017" "g.111958622_111958623del" "" "{PMID:Kim 2021:33219105}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.112087898_112087899del" "" "pathogenic (dominant)" "" "0000830282" "0" "50" "11" "111965545" "111965545" "subst" "1.2212E-5" "00006" "SDHD_000070" "g.111965545G>A" "" "{PMID:Kim 2021:33219105}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.112094821G>A" "" "VUS" "" "0000830283" "0" "50" "11" "111965545" "111965545" "subst" "1.2212E-5" "00006" "SDHD_000070" "g.111965545G>A" "" "{PMID:Kim 2021:33219105}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.112094821G>A" "" "VUS" "" "0000830284" "0" "50" "11" "111965545" "111965545" "subst" "1.2212E-5" "00006" "SDHD_000070" "g.111965545G>A" "" "{PMID:Kim 2021:33219105}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.112094821G>A" "" "VUS" "" "0000830285" "0" "90" "11" "111958640" "111958640" "subst" "0" "00006" "SDHD_000002" "g.111958640C>T" "" "{PMID:Kim 2021:33219105}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.112087916C>T" "" "pathogenic" "" "0000862291" "0" "10" "11" "111959625" "111959625" "subst" "0.0332881" "01804" "SDHD_000034" "g.111959625C>T" "" "" "" "SDHD(NM_001276504.1):c.87C>T (p.(=)), SDHD(NM_001276506.2):c.204C>T (p.S68=), SDHD(NM_003002.4):c.204C>T (p.S68=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000862292" "0" "10" "11" "111963883" "111963883" "subst" "0.0177644" "01804" "SDHD_000181" "g.111963883C>T" "" "" "" "SDHD(NM_001276506.1):c.394C>T (p.(Arg132Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000869076" "0" "70" "11" "111959590" "111959590" "subst" "4.06659E-6" "00006" "SDHD_000031" "g.111959590G>T" "" "{PMID:Schuermans 2022:35606766}" "" "" "ACMG PVS1, PM2, PP3, PP5, PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.112088866G>T" "" "likely pathogenic (recessive)" "" "0000869077" "0" "70" "11" "111959663" "111959663" "subst" "1.62467E-5" "00006" "SDHD_000003" "g.111959663C>T" "" "{PMID:Schuermans 2022:35606766}" "" "" "ACMG PP5, PM1, PM2, PP2, PP3, PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.112088939C>T" "" "pathogenic" "" "0000889594" "0" "30" "11" "111957658" "111957658" "subst" "0" "02327" "C11orf57_000001" "g.111957658C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000889595" "0" "90" "11" "111959695" "111959695" "subst" "0" "02325" "SDHD_000004" "g.111959695G>T" "" "" "" "SDHD(NM_001276504.1):c.157G>T (p.(Asp53Tyr)), SDHD(NM_003002.4):c.274G>T (p.D92Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000913493" "0" "90" "11" "111965688" "111965688" "del" "0" "01804" "SDHD_000182" "g.111965688del" "" "" "" "SDHD(NM_003002.3):c.474del (p.(Lys158Asnfs*10))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000918347" "0" "99" "11" "111957667" "111957667" "dup" "0" "01713" "SDHD_000185" "g.111957667dup" "" "{PMID:Andrews:29386252}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000918350" "0" "77" "11" "111957678" "111957684" "del" "0" "01713" "SDHD_000186" "g.111957678_111957684del" "" "{PMID:Andrews:29386252}" "" "" "Two cases" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000918351" "0" "99" "11" "111958581" "111958581" "dup" "0" "01713" "SDHD_000187" "g.111958581dup" "" "{PMID:Andrews:29386252}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000918352" "0" "99" "11" "111958619" "111958619" "dup" "0" "01713" "SDHD_000188" "g.111958619dup" "" "{PMID:Andrews:29386252}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000918353" "0" "99" "11" "111958626" "111958636" "del" "0" "01713" "SDHD_000189" "g.111958626_111958636del" "" "{PMID:Andrews:29386252}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000918354" "0" "99" "11" "111958644" "111958645" "ins" "0" "01713" "SDHD_000190" "g.111958644_111958645insGATA" "" "{PMID:Andrews:29386252}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000918355" "0" "99" "11" "111958672" "111958673" "dup" "0" "01713" "SDHD_000191" "g.111958672_111958673dup" "" "{PMID:Andrews:29386252}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000918356" "0" "99" "11" "111959592" "111959592" "del" "0" "01713" "SDHD_000192" "g.111959592del" "" "{PMID:Andrews:29386252}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000918357" "0" "99" "11" "111959626" "111959626" "subst" "0" "01713" "SDHD_000193" "g.111959626G>T" "" "{PMID:Andrews:29386252}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000918360" "0" "77" "11" "111965626" "111965626" "subst" "0" "01713" "SDHD_000194" "g.111965626G>A" "" "{PMID:Bayley:31492822}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000918361" "0" "77" "11" "111965630" "111965630" "subst" "0" "01713" "SDHD_000195" "g.111965630T>G" "" "{PMID:Bayley:31492822}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000918362" "0" "99" "11" "111958583" "111958583" "del" "0" "01713" "SDHD_000196" "g.111958583del" "" "{PMID:Bayley:31492822}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000925311" "0" "90" "11" "111959695" "111959695" "subst" "0" "01804" "SDHD_000004" "g.111959695G>T" "" "" "" "SDHD(NM_001276504.1):c.157G>T (p.(Asp53Tyr)), SDHD(NM_003002.4):c.274G>T (p.D92Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000925312" "0" "30" "11" "111965699" "111965699" "subst" "0.000123763" "02327" "SDHD_000197" "g.111965699T>C" "" "" "" "SDHD(NM_001276503.1):c.*82T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927514" "0" "77" "11" "111959626" "111959626" "subst" "8.12843E-6" "01713" "SDHD_000198" "g.111959626G>A" "" "{PMID:Jackson:24367056}" "" "" "autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (paternal)" "" "0000949572" "0" "10" "11" "111957665" "111957665" "subst" "0.00756037" "02330" "SDHD_000011" "g.111957665G>A" "" "" "" "SDHD(NM_001276503.1):c.34G>A (p.(Gly12Ser)), SDHD(NM_001276506.2):c.34G>A (p.G12S), SDHD(NM_003002.4):c.34G>A (p.G12S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949573" "0" "10" "11" "111959625" "111959625" "subst" "0.0332881" "02330" "SDHD_000034" "g.111959625C>T" "" "" "" "SDHD(NM_001276504.1):c.87C>T (p.(=)), SDHD(NM_001276506.2):c.204C>T (p.S68=), SDHD(NM_003002.4):c.204C>T (p.S68=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000955099" "0" "70" "11" "111965647" "111965652" "del" "0" "03779" "SDHD_000199" "g.111965647_111965652del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000966147" "0" "90" "11" "111965528" "111965528" "subst" "0" "01804" "SDHD_000200" "g.111965528G>A" "" "" "" "SDHD(NM_003002.3):c.315-1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000966148" "0" "90" "11" "111965630" "111965630" "subst" "0" "01804" "SDHD_000016" "g.111965630T>C" "" "" "" "SDHD(NM_003002.3):c.416T>C (p.(Leu139Pro)), SDHD(NM_003002.4):c.416T>C (p.L139P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000979355" "0" "50" "11" "111958686" "111958686" "subst" "4.06171E-5" "01804" "SDHD_000145" "g.111958686C>T" "" "" "" "SDHD(NM_003002.4):c.158C>T (p.(Pro53Leu), p.P53L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979356" "0" "30" "11" "111963799" "111963799" "subst" "7.6476E-5" "01804" "SDHD_000201" "g.111963799C>T" "" "" "" "SDHD(NM_001276506.2):c.315-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979357" "0" "90" "11" "111965555" "111965555" "subst" "0" "02327" "SDHD_000007" "g.111965555A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000998739" "0" "30" "11" "111966516" "111966516" "subst" "0" "01804" "SDHD_000202" "g.111966516T>C" "" "" "" "SDHD(NM_003002.3):c.*822T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014749" "0" "10" "11" "111963821" "111963821" "subst" "0.00188077" "01804" "SDHD_000203" "g.111963821C>T" "" "" "" "SDHD(NM_001276506.1):c.332C>T (p.(Ala111Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025904" "0" "50" "11" "111963876" "111963876" "subst" "8.4968E-5" "01804" "SDHD_000204" "g.111963876C>T" "" "" "" "SDHD(NM_001276506.1):c.387C>T (p.(Ser129=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025905" "0" "50" "11" "111965699" "111965699" "subst" "0.000123763" "01804" "SDHD_000197" "g.111965699T>C" "" "" "" "SDHD(NM_001276503.1):c.*82T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046283" "0" "50" "11" "111965552" "111965552" "subst" "0" "02325" "SDHD_000205" "g.111965552A>T" "" "" "" "SDHD(NM_003002.4):c.338A>T (p.D113V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047187" "0" "30" "11" "111957665" "111957665" "subst" "0.00756037" "03779" "SDHD_000011" "g.111957665G>A" "" "" "" "" "" "Unknown" "" "rs34677591" "0" "" "" "" "" "likely benign" "" "0001047188" "0" "10" "11" "111959562" "111959562" "subst" "0.033249" "03779" "SDHD_000030" "g.111959562A>G" "" "" "" "" "" "Unknown" "" "rs9919624" "0" "" "" "" "" "benign" "" "0001047189" "0" "10" "11" "111959625" "111959625" "subst" "0.0332881" "03779" "SDHD_000034" "g.111959625C>T" "" "" "" "" "" "Unknown" "" "rs9919552" "0" "" "" "" "" "benign" "" "0001048020" "0" "30" "11" "111958677" "111958677" "subst" "0.00659124" "03779" "SDHD_000019" "g.111958677A>G" "" "" "" "" "" "Unknown" "" "rs11214077" "0" "" "" "" "" "likely benign" "" "0001049724" "0" "90" "11" "111957633" "111957633" "subst" "0" "03779" "SDHD_000170" "g.111957633T>C" "" "" "" "" "" "Unknown" "" "rs2498895308" "0" "" "" "" "" "pathogenic" "" "0001054120" "0" "50" "11" "111963916" "111963916" "subst" "0" "01804" "SDHD_000206" "g.111963916A>G" "" "" "" "SDHD(NM_001276506.2):c.427A>G (p.(Lys143Glu))" "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 SDHD ## Count = 485 "{{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}}" "0000064205" "00018578" "33" "149" "0" "149" "0" "c.149A>G" "r.(?)" "p.(His50Arg)" "2" "0.00" "missense" "0.681" "28.82" "0000064206" "00018578" "10" "1093" "0" "1093" "0" "c.*613T>C" "r.(?)" "p.(=)" "4" "" "" "" "" "0000064207" "00018578" "97" "317" "0" "317" "0" "c.317G>T" "r.(?)" "p.(Gly106Val)" "4" "0.00" "missense" "0.929" "108.79" "0000064208" "00018578" "90" "337" "0" "340" "0" "c.337_340del" "r.(?)" "p.(Asp113Metfs*21)" "4" "" "" "" "" "0000116742" "00018578" "59" "-61" "0" "1304" "0" "c.(?_-61)_(*824_?)del" "r.?" "p.?" "_1_4_" "" "deletion, large" "" "" "0000116743" "00018578" "99" "-8828" "0" "169" "442" "c.-8828_169+442del" "r.?" "p.?" "_1_2i" "" "deletion, large" "" "" "0000116744" "00018578" "99" "-1427" "0" "169" "29" "c.-1427_169+29del" "r.?" "p.?" "_1_2i" "" "deletion, large" "" "" "0000116745" "00018578" "59" "-61" "0" "169" "1" "c.(?_-61)_(169+1_170-1)del" "r.?" "p.?" "_1_2i" "" "deletion, large" "" "" "0000116746" "00018578" "59" "-61" "0" "1304" "0" "c.(?_-61)_(*824_?)del" "r.?" "p.?" "_1_4_" "" "" "" "" "0000116747" "00018578" "59" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "1" "" "nonsense" "" "" "0000116748" "00018578" "99" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "1" "" "" "" "" "0000116749" "00018578" "77" "2" "0" "2" "0" "c.2T>A" "r.(?)" "p.(Met1?)" "1" "" "nonsense" "" "" "0000116750" "00018578" "99" "2" "0" "3" "0" "c.2_3inv" "r.(?)" "p.(Met1?)" "1" "" "nonsense" "" "" "0000116751" "00018578" "99" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.(Met1?)" "1" "" "nonsense" "" "" "0000116752" "00018578" "59" "3" "0" "3" "0" "c.3G>C" "r.(?)" "p.(Met1?)" "1" "" "" "" "" "0000116753" "00018578" "95" "3" "0" "3" "0" "c.3G>C" "r.(?)" "p.(Met1?)" "1" "" "" "" "" "0000116754" "00018578" "59" "14" "0" "14" "0" "c.14G>A" "r.(?)" "p.(Trp5*)" "1" "" "nonsense" "" "" "0000116755" "00018578" "59" "21" "0" "21" "0" "c.21del" "r.(?)" "p.(Ser8Valfs*7)" "1" "" "frameshift" "" "" "0000116756" "00018578" "59" "28" "0" "33" "0" "c.28_33delinsTAGGAGGCCCTA" "r.(?)" "p.(Val10*)" "1" "" "nonsense" "" "" "0000116757" "00018578" "59" "33" "0" "33" "0" "c.33C>A" "r.(?)" "p.(Cys11*)" "1" "" "nonsense" "" "" "0000116758" "00018578" "11" "33" "0" "33" "0" "c.33C>T" "r.(?)" "p.(=)" "1" "" "silent" "" "" "0000116759" "00018578" "51" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Gly12Ser)" "1" "0.76" "missense" "0.574" "55.27" "0000116760" "00018578" "59" "36" "0" "37" "0" "c.36_37del" "r.(?)" "p.(Ala13Profs*55)" "1" "" "frameshift" "" "" "0000116761" "00018578" "59" "49" "0" "49" "0" "c.49C>T" "r.(?)" "p.(Arg17*)" "1" "" "nonsense" "" "" "0000116762" "00018578" "99" "49" "0" "49" "0" "c.49C>T" "r.(?)" "p.(Arg17*)" "1" "" "" "" "" "0000116763" "00018578" "53" "50" "0" "50" "0" "c.50G>T" "r.(?)" "p.(Arg17Leu)" "1" "0.19" "missense" "0.626" "101.88" "0000116764" "00018578" "57" "52" "2" "52" "2" "c.52+2T>G" "r.spl" "p.?" "1i" "" "splicing affected?" "" "" "0000116765" "00018578" "77" "-25655" "0" "169" "315" "c.-25655_169+315del" "r.?" "p.?" "_1_2i" "" "deletion, large" "" "" "0000116766" "00018578" "99" "52" "5" "169" "325" "c.52+5_169+325delins235" "r.?" "p.?" "1i_2i" "" "deletion, large" "" "" "0000116767" "00018578" "77" "53" "-2" "53" "-2" "c.53-2A>G" "r.spl" "p.?" "1i" "" "splicing affected?" "" "" "0000116768" "00018578" "59" "55" "0" "56" "0" "c.55_56dup" "r.(?)" "p.(Leu20Cysfs*67)" "1" "" "frameshift" "" "" "0000116769" "00018578" "59" "57" "0" "57" "0" "c.57del" "r.(?)" "p.(Leu20Cysfs*66)" "1" "" "frameshift" "" "" "0000116770" "00018578" "59" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Arg22*)" "2" "" "nonsense" "" "" "0000116771" "00018578" "51" "90" "0" "90" "0" "c.90T>C" "r.(?)" "p.(=)" "2" "" "silent" "" "" "0000116772" "00018578" "59" "94" "0" "95" "0" "c.94_95del" "r.(?)" "p.(Ala33Ilefs*35)" "2" "" "" "" "" "0000116773" "00018578" "59" "95" "0" "95" "0" "c.95C>A" "r.(?)" "p.(Ser32*)" "2" "" "nonsense" "" "" "0000116774" "00018578" "59" "106" "0" "106" "0" "c.106C>T" "r.(?)" "p.(Gln36*)" "2" "" "nonsense" "" "" "0000116775" "00018578" "59" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Arg38*)" "2" "" "" "" "" "0000116776" "00018578" "99" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Arg38*)" "2" "" "" "" "" "0000116777" "00018578" "73" "118" "0" "118" "0" "c.118A>G" "r.(?)" "p.(Ile40Val)" "2" "0.55" "missense" "0.509" "29.61" "0000116778" "00018578" "59" "122" "0" "122" "0" "c.122dup" "r.(?)" "p.(Glu42Argfs*27)" "2" "" "frameshift" "" "" "0000116779" "00018578" "59" "120" "0" "127" "0" "c.120_127del" "r.(?)" "p.(Ile40Metfs*26)" "2" "" "frameshift" "" "" "0000116780" "00018578" "53" "125" "0" "125" "0" "c.125A>C" "r.(?)" "p.(Glu42Ala)" "2" "0.55" "missense" "0.517" "106.71" "0000116781" "00018578" "59" "129" "0" "129" "0" "c.129G>A" "r.(?)" "p.(Trp43*)" "2" "" "nonsense" "" "" "0000116782" "00018578" "51" "138" "0" "138" "0" "c.138G>A" "r.(?)" "p.(=)" "2" "" "silent" "" "" "0000116783" "00018578" "59" "147" "0" "147" "0" "c.147dup" "r.(?)" "p.(His50Thrfs*19)" "2" "" "frameshift" "" "" "0000116784" "00018578" "59" "149" "0" "149" "0" "c.149dup" "r.(?)" "p.(His50Glnfs*19)" "2" "" "frameshift" "" "" "0000116785" "00018578" "55" "149" "0" "149" "0" "c.149dup" "r.(?)" "p.(His50Glnfs*19)" "2" "" "" "" "" "0000116786" "00018578" "51" "149" "0" "149" "0" "c.149A>G" "r.(?)" "p.(His50Arg)" "2" "" "" "" "" "0000116787" "00018578" "59" "168" "0" "169" "0" "c.168_169del" "r.(?)" "p.(Ser57Trpfs*11)" "2" "" "frameshift" "" "" "0000116788" "00018578" "57" "169" "0" "169" "9" "c.169_169+9del" "r.spl" "p.?" "2_2i" "" "splicing affected?" "" "" "0000116789" "00018578" "77" "169" "0" "169" "9" "c.169_169+9del" "r.spl" "p.?" "2_2i" "" "" "" "" "0000116790" "00018578" "97" "169" "1" "169" "1" "c.169+1G>A" "r.spl" "p.?" "2i" "" "splicing affected" "" "" "0000116791" "00018578" "57" "169" "1" "169" "1" "c.169+1G>T" "r.spl" "p.?" "2i" "" "splicing affected" "" "" "0000116792" "00018578" "59" "169" "5" "169" "5" "c.169+5G>A" "r.spl?" "p.?" "2i" "" "splicing affected?" "" "" "0000116793" "00018578" "51" "169" "67" "169" "67" "c.169+67C>T" "r.(?)" "p.(=)" "2i" "" "" "" "" "0000116794" "00018578" "97" "53" "-2" "53" "-2" "c.53-2A>G" "r.spl" "p.?" "1i" "" "" "" "" "0000116795" "00018578" "11" "170" "-29" "170" "-29" "c.170-29A>G" "r.(?)" "p.(=)" "2i" "" "" "" "" "0000116796" "00018578" "59" "170" "-1" "170" "-1" "c.170-1G>T" "r.spl" "p.?" "2i" "" "splicing affected?" "" "" "0000116797" "00018578" "79" "170" "-1" "314" "1" "c.(169+1_170-1)_(314+1_315-1)del" "r.?" "p.?" "1i_3i" "" "deletion, large" "" "" "0000116798" "00018578" "59" "170" "-1" "314" "1" "c.(169+1_170-1)_(314+1_315-1)del" "r.?" "p.?" "1i_3i" "" "deletion, large" "" "" "0000116799" "00018578" "59" "170" "-1" "1304" "0" "c.(169+1_170-1)_(*824_?)del" "r.?" "p.?" "1i_4_" "" "deletion, large" "" "" "0000116800" "00018578" "59" "181" "0" "181" "0" "c.181del" "r.(?)" "p.(Ala61Leufs*25)" "3" "" "frameshift" "" "" "0000116801" "00018578" "99" "184" "0" "185" "0" "c.184_185insTC" "r.(?)" "p.(Ala62Valfs*25)" "3" "" "frameshift" "" "" "0000116802" "00018578" "99" "188" "0" "198" "0" "c.188_198del" "r.(?)" "p.(Ser63Tyrfs*2)" "3" "" "frameshift" "" "" "0000116803" "00018578" "59" "191" "0" "192" "0" "c.191_192del" "r.(?)" "p.(Leu64Profs*4)" "3" "" "frameshift" "" "" "0000116804" "00018578" "59" "202" "0" "202" "0" "c.202dup" "r.(?)" "p.(Ser68Lysfs*46)" "3" "" "frameshift" "" "" "0000116805" "00018578" "51" "204" "0" "204" "0" "c.204C>T" "r.(?)" "p.(=)" "3" "" "silent" "" "" "0000116806" "00018578" "59" "206" "0" "218" "0" "c.206_218del" "r.(?)" "p.(Glu69Valfs*13)" "3" "" "frameshift" "" "" "0000116807" "00018578" "57" "208" "0" "208" "0" "c.208A>G" "r.(?)" "p.(Arg70Gly)" "3" "0.00" "missense" "0.962" "125.13" "0000116808" "00018578" "57" "209" "0" "209" "0" "c.209G>T" "r.(?)" "p.(Arg70Met)" "3" "0.00" "missense" "0.952" "91.64" "0000116809" "00018578" "77" "210" "0" "210" "0" "c.210G>T" "r.(?)" "p.(Arg70Ser)" "3" "0.00" "missense" "0.828" "109.21" "0000116810" "00018578" "75" "230" "0" "230" "0" "c.230T>G" "r.(?)" "p.(Leu77Arg)" "3" "0.00" "missense" "0.981" "101.88" "0000116811" "00018578" "99" "234" "0" "243" "0" "c.234_243del" "r.(?)" "p.(Pro81Ilefs*2)" "3" "" "frameshift" "" "" "0000116812" "00018578" "99" "234" "0" "243" "0" "c.234_243del" "r.(?)" "p.(Pro81Ilefs*2)" "3" "" "" "" "" "0000116813" "00018578" "57" "236" "0" "236" "0" "c.236T>G" "r.(?)" "p.(Leu79Arg)" "3" "0.00" "missense" "0.968" "101.88" "0000116814" "00018578" "99" "241" "0" "262" "0" "c.241_262del" "r.(?)" "p.(Pro81Alafs*47)" "3" "" "frameshift" "" "" "0000116815" "00018578" "99" "242" "0" "242" "0" "c.242C>T" "r.(?)" "p.(Pro81Leu)" "3" "0.00" "missense" "0.908" "97.78" "0000116816" "00018578" "51" "243" "0" "243" "0" "c.243G>C" "r.(?)" "p.(=)" "3" "" "silent" "" "" "0000116817" "00018578" "59" "252" "0" "252" "0" "c.252T>G" "r.(?)" "p.(Tyr84*)" "3" "" "nonsense" "" "" "0000116818" "00018578" "59" "254" "0" "254" "0" "c.254T>A" "r.(?)" "p.(Leu85*)" "3" "" "nonsense" "" "" "0000116819" "00018578" "55" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(Pro87Ser)" "3" "0.03" "missense" "0.903" "73.35" "0000116820" "00018578" "35" "260" "0" "260" "0" "c.260C>A" "r.(?)" "p.(Pro87His)" "3" "0.01" "missense" "0.878" "76.28" "0000116821" "00018578" "77" "264" "0" "273" "0" "c.264_273del" "r.(?)" "p.(Cys88Trpfs*44)" "3" "" "frameshift" "" "" "0000116822" "00018578" "55" "268" "0" "268" "0" "c.268G>A" "r.(?)" "p.(Ala90Thr)" "3" "0.09" "missense" "0.693" "58.02" "0000116823" "00018578" "59" "271" "0" "282" "0" "c.271_282del" "r.(?)" "p.(Met91_Ser94del)" "3" "" "deletion, small" "" "" "0000116824" "00018578" "99" "274" "0" "274" "0" "c.274G>T" "r.(?)" "p.(Asp92Tyr)" "3" "0.00" "missense" "0.99" "159.94" "0000116825" "00018578" "95" "274" "0" "279" "0" "c.274_279del" "r.(?)" "p.(Asp92_Tyr93del)" "3" "" "deletion, small" "" "" "0000116826" "00018578" "55" "276" "0" "278" "0" "c.276_278del" "r.(?)" "p.(Tyr93del)" "3" "" "deletion, small" "" "" "0000116827" "00018578" "59" "277" "0" "277" "0" "c.277del" "r.(?)" "p.(Tyr93Ilefs*42)" "3" "" "frameshift" "" "" "0000116828" "00018578" "55" "278" "0" "278" "0" "c.278A>G" "r.(?)" "p.(Tyr93Cys)" "3" "0.00" "missense" "0.876" "193.72" "0000116829" "00018578" "59" "279" "0" "279" "0" "c.279T>G" "r.(?)" "p.(Tyr93*)" "3" "" "nonsense" "" "" "0000116830" "00018578" "59" "284" "0" "284" "0" "c.284T>C" "r.(?)" "p.(Leu95Pro)" "3" "0.00" "missense" "0.946" "97.78" "0000116831" "00018578" "59" "287" "0" "287" "0" "c.287dup" "r.(?)" "p.(Ala97Cysfs*17)" "3" "" "frameshift" "" "" "0000116832" "00018578" "59" "296" "0" "296" "0" "c.296del" "r.(?)" "p.(Leu99Profs*36)" "3" "" "frameshift" "" "" "0000116833" "00018578" "75" "302" "0" "302" "0" "c.302T>C" "r.(?)" "p.(Leu101Pro)" "3" "0.00" "missense" "0.839" "97.78" "0000116834" "00018578" "77" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(His102Tyr)" "3" "0.00" "missense" "0.950" "83.33" "0000116835" "00018578" "75" "305" "0" "305" "0" "c.305A>G" "r.(?)" "p.(His102Arg)" "3" "0.00" "missense" "0.925" "28.82" "0000116836" "00018578" "57" "305" "0" "305" "0" "c.305A>T" "r.(?)" "p.(His102Leu)" "3" "0.00" "missense" "0.909" "98.69" "0000116837" "00018578" "77" "311" "0" "311" "0" "c.311A>C" "r.(?)" "p.(His104Pro)" "3" "0.00" "missense" "0.980" "76.28" "0000116838" "00018578" "57" "314" "0" "314" "3" "c.314_314+3del" "r.spl" "p.?" "3" "" "splicing affected?" "" "" "0000116839" "00018578" "59" "314" "1" "314" "1" "c.314+1G>A" "r.spl" "p.?" "3i" "" "splicing affected?" "" "" "0000116840" "00018578" "57" "314" "1" "314" "1" "c.314+1G>C" "r.spl" "p.?" "3i" "" "splicing affected?" "" "" "0000116841" "00018578" "99" "317" "0" "317" "0" "c.317del" "r.(?)" 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"" "" "0000128327" "00018578" "57" "316" "0" "316" "0" "c.316G>C" "r.(?)" "p.(Gly106Arg)" "4" "0.00" "missense" "ND" "125.13" "0000128328" "00018578" "50" "326" "0" "326" "0" "c.326A>T" "r.(?)" "p.(Gln109Leu)" "4" "0.00" "missense" "0.946" "112.44" "0000128329" "00018578" "50" "405" "0" "405" "0" "c.405del" "r.(?)" "p.(Phe136Leufs*32)" "4" "" "" "" "" "0000128330" "00018578" "50" "479" "0" "480" "0" "c.479_480insGT" "r.(?)" "p.(*160Trpext*8)" "4" "" "frameshift" "" "" "0000128331" "00018578" "50" "411" "0" "411" "0" "c.411del" "r.(?)" "p.(Leu139Phefs*29)" "4" "" "" "" "" "0000128332" "00018578" "50" "371" "0" "390" "0" "c.371_390delinsGG" "r.(?)" "p.(Ala124_Ala130delinsGly)" "4" "" "" "" "" "0000128333" "00018578" "50" "315" "-2" "315" "-2" "c.315-2A>G" "r.spl" "p.?" "3i" "" "splicing affected?" "" "" "0000128334" "00018578" "50" "352" "0" "352" "0" "c.352del" "r.(?)" 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"p.(Pro81Leu)" "3" "" "" "" "" "0000239821" "00018578" "99" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Leu139Pro)" "4" "" "" "" "" "0000239822" "00018578" "99" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Leu139Pro)" "4" "" "" "" "" "0000239823" "00018578" "99" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Leu139Pro)" "4" "" "" "" "" "0000239824" "00018578" "99" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Leu139Pro)" "4" "" "" "" "" "0000239825" "00018578" "99" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Leu139Pro)" "4" "" "" "" "" "0000239826" "00018578" "99" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Leu139Pro)" "4" "" "" "" "" "0000239827" "00018578" "99" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Leu139Pro)" "4" "" "" "" "" "0000239828" "00018578" "99" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Leu139Pro)" "4" "" "" "" "" "0000239829" "00018578" "99" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Leu139Pro)" "4" "" "" "" "" "0000239830" "00018578" "99" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Leu139Pro)" "4" "" "" "" "" "0000239831" "00018578" "99" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Leu139Pro)" "4" "" "" "" "" "0000239832" "00018578" "99" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Leu139Pro)" "4" "" "" "" "" "0000239833" "00018578" "99" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Leu139Pro)" "4" "" "" "" "" "0000239834" "00018578" "99" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Leu139Pro)" "4" "" "" "" "" "0000239835" "00018578" "99" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Leu139Pro)" "4" "" "" "" "" "0000239836" "00018578" "99" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Leu139Pro)" "4" "" "" "" "" "0000239837" "00018578" "99" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Leu139Pro)" "4" "" "" "" "" "0000239838" "00018578" "99" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Leu139Pro)" "4" "" "" "" "" "0000239839" "00018578" "99" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Leu139Pro)" "4" "" "" "" "" "0000239840" "00018578" "99" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Leu139Pro)" "4" "" "" "" "" "0000239841" "00018578" "99" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Leu139Pro)" "4" "" "" "" "" "0000239842" "00018578" "99" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Leu139Pro)" "4" "" "" "" "" "0000239843" "00018578" "99" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Leu139Pro)" "4" "" "" "" "" "0000239844" "00018578" "99" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Leu139Pro)" "4" "" "" "" "" "0000239845" "00018578" "99" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Leu139Pro)" "4" "" "" "" "" "0000239846" "00018578" "99" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Leu139Pro)" "4" "" "" "" "" "0000239847" "00018578" "99" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Leu139Pro)" "4" "" "" "" "" "0000239848" "00018578" "99" "-8828" "0" "169" "442" "c.-8828_169+442del" "r.0?" "p.0?" "_1_2i" "" "" "" "" "0000239849" "00018578" "99" "-8828" "0" "169" "442" "c.-8828_169+442del" "r.0?" "p.0?" "_1_2i" "" "" "" "" "0000239850" "00018578" "99" "-8828" "0" "169" "442" "c.-8828_169+442del" "r.0?" "p.0?" "_1_2i" "" "" "" "" "0000239851" "00018578" "99" "-8828" "0" "169" "442" "c.-8828_169+442del" "r.0?" "p.0?" "_1_2i" "" "" "" "" "0000239852" "00018578" "77" "169" "0" "169" "9" "c.169_169+9del" "r.spl" "p.?" "2_2i" "" "" "" "" "0000239853" "00018578" "77" "169" "0" "169" "9" "c.169_169+9del" "r.spl" "p.?" "2_2i" "" "" "" "" "0000239854" "00018578" "99" "284" "0" "284" "0" "c.284T>C" "r.(?)" "p.(Leu95Pro)" "3" "" "" "" "" "0000239855" "00018578" "99" "284" "0" "284" "0" "c.284T>C" "r.(?)" "p.(Leu95Pro)" "3" "" "" "" "" "0000239856" "00018578" "99" "284" "0" "284" "0" "c.284T>C" "r.(?)" "p.(Leu95Pro)" "3" "" "" "" "" "0000239857" "00018578" "99" "284" "0" "284" "0" "c.284T>C" "r.(?)" "p.(Leu95Pro)" "3" "" "" "" "" "0000239858" "00018578" "99" "284" "0" "284" "0" "c.284T>C" "r.(?)" "p.(Leu95Pro)" "3" "" "" "" "" "0000239859" "00018578" "99" "284" "0" "284" "0" "c.284T>C" "r.(?)" "p.(Leu95Pro)" "3" "" "" "" "" "0000239860" "00018578" "99" "337" "0" "340" "0" "c.337_340del" "r.(?)" "p.(Asp113Metfs*21)" "4" "" "" "" "" "0000239861" "00018578" "99" "337" "0" "340" "0" "c.337_340del" "r.(?)" "p.(Asp113Metfs*21)" "4" "" "" "" "" "0000239862" "00018578" "99" "3" "0" "3" "0" "c.3G>C" "r.(?)" "p.(Met1?)" "1" "" "nonsense" "" "" "0000239863" "00018578" "55" "299" "0" "299" "0" "c.299C>T" "r.(?)" "p.(Thr100Ile)" "3" "0.03" "missense" "0.821" "89.28" "0000239864" "00018578" "59" "284" "0" "284" "0" "c.284T>G" "r.(?)" "p.(Leu95Arg)" "3" "0.00" "missense" "0.981" "101.88" "0000249956" "00018578" "10" "149" "0" "149" "0" "c.149A>G" "r.(?)" "p.(His50Arg)" "" "" "" "" "" "0000254047" "00018578" "30" "149" "0" "149" "0" "c.149A>G" "r.(?)" "p.(His50Arg)" "" "" "" "" "" "0000298085" "00018578" "90" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Leu139Pro)" "" "" "" "" "" "0000299391" "00018578" "10" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Gly12Ser)" "" "" "" "" "" "0000299392" "00018578" "90" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Leu139Pro)" "" "" "" "" "" "0000299393" "00018578" "30" "53" "0" "53" "0" "c.53C>T" "r.(?)" "p.(Ala18Val)" "" "1.00" "missense" "0.484" "64.43" "0000302018" "00018578" "50" "180" "0" "180" "0" "c.180G>A" "r.(?)" "p.(Lys60=)" "" "" "silent" "" "" "0000302019" "00018578" "10" "204" "0" "204" "0" "c.204C>T" "r.(?)" "p.(Ser68=)" "" "" "" "" "" "0000302020" "00018578" "90" "274" "0" "274" "0" "c.274G>T" "r.(?)" "p.(Asp92Tyr)" "" "" "" "" "" "0000302021" "00018578" "90" "284" "0" "284" "0" "c.284T>C" "r.(?)" "p.(Leu95Pro)" "" "" "" "" "" "0000322501" "00018578" "50" "-236" "0" "-236" "0" "c.-236C>T" "r.(?)" "p.(=)" "" "" "" "" "" "0000336999" "00018578" "30" "-19" "0" "-19" "0" "c.-19T>C" "r.(?)" "p.(=)" "" "" "" "" "" "0000337000" "00018578" "90" "169" "1" "169" "1" "c.169+1G>A" "r.spl?" "p.?" "" "" "" "" "" "0000339286" "00018578" "10" "204" "0" "204" "0" "c.204C>T" "r.(?)" "p.(Ser68=)" "" "" "" "" "" "0000340982" "00018578" "30" "282" "0" "282" "0" "c.282C>G" "r.(?)" "p.(Ser94=)" "" "" "silent" "" "" "0000343883" "00018578" "90" "337" "0" "340" "0" "c.337_340del" "r.(?)" "p.(Asp113MetfsTer21)" "" "" "frameshift" "" "" "0000344209" "00018578" "90" "274" "0" "274" "0" "c.274G>T" "r.(?)" "p.(Asp92Tyr)" "" "" "" "" "" "0000345687" "00018578" "10" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Gly12Ser)" "" "" "" "" "" "0000346492" "00018578" "30" "149" "0" "149" "0" "c.149A>G" "r.(?)" "p.(His50Arg)" "" "" "" "" "" "0000346887" "00018578" "90" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Leu139Pro)" "" "" "" "" "" "0000347349" "00018578" "90" "284" "0" "284" "0" "c.284T>C" "r.(?)" "p.(Leu95Pro)" "" "" "" "" "" "0000542358" "00018578" "30" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Gly12Ser)" "" "" "" "" "" "0000542359" "00018578" "30" "53" "0" "53" "0" "c.53C>T" "r.(?)" "p.(Ala18Val)" "" "" "" "" "" "0000542360" "00018578" "50" "158" "0" "158" "0" "c.158C>T" "r.(?)" "p.(Pro53Leu)" "" "" "" "" "" "0000542361" "00018578" "10" "204" "0" "204" "0" "c.204C>T" "r.(?)" "p.(Ser68=)" "" "" "" "" "" "0000542362" "00018578" "10" "312" "0" "312" "0" "c.312C>T" "r.(?)" "p.(His104=)" "" "" "" "" "" "0000613032" "00018578" "75" "341" "0" "341" "0" "c.341A>T" "r.(?)" "p.(Tyr114Phe)" "" "0.00" "missense" "0.914" "21.61" "0000648095" "00018578" "30" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Gly12Ser)" "" "" "" "" "" "0000648096" "00018578" "50" "149" "0" "149" "0" "c.149A>G" "r.(?)" "p.(His50Arg)" "" "" "" "" "" "0000660364" "00018578" "50" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Gly12Ser)" "" "" "" "" "" "0000660365" "00018578" "55" "386" "0" "386" "0" "c.386T>C" "r.(?)" "p.(Leu129Ser)" "" "0.03" "missense" "0.665" "144.08" "0000660662" "00018578" "50" "239" "0" "239" "0" "c.239T>G" "r.(?)" "p.(Leu80Arg)" "" "" "" "" "" "0000665787" "00018578" "90" "33" "0" "33" "0" "c.33C>A" "r.(?)" "p.(Cys11*)" "" "" "" "" "" "0000669100" "00018578" "30" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Gly12Ser)" "" "" "" "" "" "0000679050" "00018578" "90" "242" "0" "242" "0" "c.242C>T" "r.(?)" "p.(Pro81Leu)" "" "" "" "" "" "0000708587" "00018578" "70" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Gln121*)" "4" "" "nonsense" "" "" "0000723194" "00018578" "30" "53" "0" "53" "0" "c.53C>T" "r.(?)" "p.(Ala18Val)" "" "" "" "" "" "0000804868" "00018578" "10" "315" "-1753" "315" "-1753" "c.315-1753G>T" "r.(=)" "p.(=)" "" "" "" "" "" "0000804870" "00018578" "30" "315" "-1737" "315" "-1737" "c.315-1737C>T" "r.(=)" "p.(=)" "" "" "" "" "" "0000830281" "00018578" "90" "94" "0" "95" "0" "c.94_95del" "r.(?)" "p.(Ala33Ilefs*35)" "" "" "frameshift" "" "" "0000830282" "00018578" "50" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Val111Ile)" "" "" "" "" "" "0000830283" "00018578" "50" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Val111Ile)" "" "" "" "" "" "0000830284" "00018578" "50" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Val111Ile)" "" "" "" "" "" "0000830285" "00018578" "90" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Arg38*)" "" "" "nonsense" "" "" "0000862291" "00018578" "10" "204" "0" "204" "0" "c.204C>T" "r.(?)" "p.(Ser68=)" "" "" "" "" "" "0000862292" "00018578" "10" "315" "-1646" "315" "-1646" "c.315-1646C>T" "r.(=)" "p.(=)" "" "" "" "" "" "0000869076" "00018578" "70" "170" "-1" "170" "-1" "c.170-1G>T" "r.spl" "p.?" "" "" "" "" "" "0000869077" "00018578" "70" "242" "0" "242" "0" "c.242C>T" "r.(?)" "p.(Pro81Leu)" "" "" "" "" "" "0000889594" "00018578" "30" "27" "0" "27" "0" "c.27C>G" "r.(?)" "p.(Ala9=)" "" "" "silent" "" "" "0000889595" "00018578" "90" "274" "0" "274" "0" "c.274G>T" "r.(?)" "p.(Asp92Tyr)" "" "" "" "" "" "0000913493" "00018578" "90" "474" "0" "474" "0" "c.474del" "r.(?)" "p.(Lys158Asnfs*10)" "" "" "frameshift" "" "" "0000918347" "00018578" "99" "36" "0" "36" "0" "c.36dup" "r.(?)" "p.(Ala13Cysfs*56)" "1" "" "duplication" "" "" "0000918350" "00018578" "77" "47" "0" "52" "1" "c.47_52+1delCCGAGGT" "r.spl?" "p.?" "" "" "splicing affected?" "" "" "0000918351" "00018578" "99" "53" "0" "53" "0" "c.53dup" "r.(?)" "p.(Leu19Serfs*50)" "" "" "frameshift" "" "" "0000918352" "00018578" "99" "91" "0" "91" "0" "c.91dup" "r.(?)" "p.(Ile31Asnfs*38)" "" "" "frameshift" "" "" "0000918353" "00018578" "99" "98" "0" "108" "0" "c.98_108del" "r.(?)" "p.(Ala33Glyfs*32)" "" "" "frameshift" "" "" "0000918354" "00018578" "99" "116" "0" "117" "0" "c.116_117insGATA" "r.(?)" "p.(Pro41Tyrfs*29)" "" "" "frameshift" "" "" "0000918355" "00018578" "99" "144" "0" "145" "0" "c.144_145dup" "r.(?)" "p.(Ile49Thrfs*38)" "" "" "frameshift" "" "" "0000918356" "00018578" "99" "171" "0" "171" "0" "c.171del" "r.(?)" "p.(Gly58Alafs*28)" "" "" "frameshift" "" "" "0000918357" "00018578" "99" "205" "0" "205" "0" "c.205G>T" "r.(?)" "p.(Glu69*)" "" "" "nonsense" "" "" "0000918360" "00018578" "77" "412" "0" "412" "0" "c.412G>A" "r.(?)" "p.(Gly138Arg)" "" "0.00" "missense" "0.978" "125.13" "0000918361" "00018578" "77" "416" "0" "416" "0" "c.416T>G" "r.(?)" "p.(Leu139Arg)" "" "0.00" "missense" "0.988" "101.88" "0000918362" "00018578" "99" "55" "0" "55" "0" "c.55del" "r.(?)" "p.(Leu19Cysfs*67)" "" "" "frameshift" "" "" "0000925311" "00018578" "90" "274" "0" "274" "0" "c.274G>T" "r.(?)" "p.(Asp92Tyr)" "" "" "" "" "" "0000925312" "00018578" "30" "485" "0" "485" "0" "c.*5T>C" "r.(=)" "p.(=)" "" "" "" "" "" "0000927514" "00018578" "77" "205" "0" "205" "0" "c.205G>A" "r.(?)" "p.(Glu69Lys)" "" "0.00" "missense" "0.991" "56" "0000949572" "00018578" "10" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Gly12Ser)" "" "" "" "" "" "0000949573" "00018578" "10" "204" "0" "204" "0" "c.204C>T" "r.(?)" "p.(Ser68=)" "" "" "" "" "" "0000955099" "00018578" "70" "433" "0" "438" "0" "c.433_438del" "r.(?)" "p.(His145_Asp146del)" "" "" "" "" "" "0000966147" "00018578" "90" "315" "-1" "315" "-1" "c.315-1G>A" "r.spl?" "p.?" "" "" "" "" "" "0000966148" "00018578" "90" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Leu139Pro)" "" "" "" "" "" "0000979355" "00018578" "50" "158" "0" "158" "0" "c.158C>T" "r.(?)" "p.(Pro53Leu)" "" "" "" "" "" "0000979356" "00018578" "30" "315" "-1730" "315" "-1730" "c.315-1730C>T" "r.(=)" "p.(=)" "" "" "" "" "" "0000979357" "00018578" "90" "341" "0" "341" "0" "c.341A>G" "r.(?)" "p.(Tyr114Cys)" "" "" "" "" "" "0000998739" "00018578" "30" "1302" "0" "1302" "0" "c.*822T>C" "r.(=)" "p.(=)" "" "" "" "" "" "0001014749" "00018578" "10" "315" "-1708" "315" "-1708" "c.315-1708C>T" "r.(=)" "p.(=)" "" "" "" "" "" "0001025904" "00018578" "50" "315" "-1653" "315" "-1653" "c.315-1653C>T" "r.(=)" "p.(=)" "" "" "" "" "" "0001025905" "00018578" "50" "485" "0" "485" "0" "c.*5T>C" "r.(=)" "p.(=)" "" "" "" "" "" "0001046283" "00018578" "50" "338" "0" "338" "0" "c.338A>T" "r.(?)" "p.(Asp113Val)" "" "" "" "" "" "0001047187" "00018578" "30" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Gly12Ser)" "" "" "" "" "" "0001047188" "00018578" "10" "170" "-29" "170" "-29" "c.170-29A>G" "r.(?)" "p.(?)" "" "" "" "" "" "0001047189" "00018578" "10" "204" "0" "204" "0" "c.204C>T" "r.(?)" "p.(Ser68=)" "" "" "" "" "" "0001048020" "00018578" "30" "149" "0" "149" "0" "c.149A>G" "r.(?)" "p.(His50Arg)" "" "" "" "" "" "0001049724" "00018578" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "" "" "" "" "0001054120" "00018578" "50" "315" "-1613" "315" "-1613" "c.315-1613A>G" "r.(=)" "p.(=)" "" "" "" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 415 "{{screeningid}}" "{{variantid}}" "0000037080" "0000064205" "0000037081" "0000064206" "0000037082" "0000064207" "0000037083" "0000064208" "0000072626" "0000116742" "0000072627" "0000116747" "0000072628" "0000116752" "0000072629" "0000116754" "0000072630" "0000116755" "0000072631" "0000116757" "0000072632" "0000116759" "0000072633" "0000116760" "0000072634" "0000116764" "0000072635" "0000116763" "0000072636" "0000116770" "0000072637" "0000116771" "0000072638" "0000116772" "0000072639" "0000116773" "0000072640" "0000116774" "0000072641" "0000116775" "0000072642" "0000116778" "0000072643" "0000116780" "0000072644" "0000116781" "0000072645" "0000116782" "0000072646" "0000116783" "0000072647" "0000116784" "0000072648" "0000116786" "0000072649" "0000116787" "0000072650" "0000116788" 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