### LOVD-version 3000-270 ### 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" "" "1" "10683" "6392" "602690" "1" "1" "1" "1" "This database is one of the TCA cycle gene variant databases (formerly SDH Complex databases)\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\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\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" "" "LUMC SDHD gene variant database\r\n
\r\n
" "-1" "" "-1" "00001" "2005-01-05 00:00:00" "01713" "2021-08-05 11:43:33" "00006" "2022-05-29 10:40:07" ## 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" "2016-10-22 17:54:40" "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" "AD" "171300" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02614" "-" "paraganglioma, gastric stromal sarcoma" "" "606864" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-10-23 11:33:35" "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 = 6 "{{geneid}}" "{{diseaseid}}" "SDHD" "00606" "SDHD" "01222" "SDHD" "01489" "SDHD" "01503" "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:20098451}" "OMIM602690:0023; 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-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" "" "" "0000079569" "00079496" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079570" "00079497" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079571" "00079498" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079572" "00079499" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079573" "00079500" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079574" "00079501" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079575" "00079502" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079576" "00079503" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079577" "00079504" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079578" "00079505" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079579" "00079506" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079580" "00079507" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079581" "00079508" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079582" "00079509" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079583" "00079510" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079584" "00079511" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079585" "00079512" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079586" "00079513" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079587" "00079514" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079588" "00079515" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079589" "00079516" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079590" "00079517" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" 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"0000147141" "00146285" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147142" "00146286" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147143" "00146287" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147144" "00146288" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147145" "00146289" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147146" "00146290" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147147" "00146291" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147148" "00146292" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147149" "00146293" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147150" "00146294" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147151" "00146295" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147152" "00146296" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147153" "00146297" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147154" "00146298" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147155" "00146299" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147156" "00146300" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147157" "00146301" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147158" "00146302" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147159" "00146303" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147160" "00146304" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147161" "00146305" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147162" "00146306" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147163" "00146307" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147164" "00146308" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147165" "00146309" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147166" "00146310" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147167" "00146311" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147168" "00146312" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147169" "00146313" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147170" "00146314" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147171" "00146315" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147172" "00146316" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147173" "00146317" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147174" "00146318" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147175" "00146319" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147176" "00146320" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147177" "00146321" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147178" "00146322" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147179" "00146323" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147180" "00146324" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147181" "00146325" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147182" "00146326" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147183" "00146327" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147184" "00146328" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147185" "00146329" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000147186" "00146330" "1" "02351" "00006" "2017-12-11 11:12:40" "" "" "SEQ" "DNA" "" "" "0000291406" "00290238" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291407" "00290239" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297719" "00296609" "1" "00006" "00006" "2020-04-08 15:05:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297955" "00296845" "1" "01164" "01164" "2020-04-14 14:07:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000302499" "00301378" "1" "01164" "01164" "2020-05-15 11:05:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000305412" "00304283" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000325571" "00324381" "1" "01164" "01164" "2020-12-08 12:12:20" "" "" "SEQ-NG-I" "DNA" "" "" "0000398073" "00396832" "1" "00006" "00006" "2021-12-17 15:43:42" "" "" "SEQ" "DNA" "" "" "0000398074" "00396833" "1" "00006" "00006" "2021-12-17 15:43:42" "" "" "SEQ" "DNA" "" "" "0000398075" "00396834" "1" "00006" "00006" "2021-12-17 15:43:42" "" "" "SEQ" "DNA" "" "" "0000398076" "00396835" "1" "00006" "00006" "2021-12-17 15:43:42" "" "" "SEQ-NG" "DNA" "" "" "0000398077" "00396836" "1" "00006" "00006" "2021-12-17 15:43:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000411839" "00410574" "1" "00006" "00006" "2022-05-29 10:39:10" "" "" "SEQ" "DNA" "" "targeted gene analysis" "0000411840" "00410575" "1" "00006" "00006" "2022-05-29 10:39:10" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 405 "{{screeningid}}" "{{geneid}}" "0000037080" "SDHD" "0000037081" "SDHD" "0000037082" "SDHD" "0000037083" "SDHD" "0000072626" "SDHD" "0000072627" "SDHD" "0000072628" "SDHD" "0000072629" "SDHD" "0000072630" "SDHD" "0000072631" "SDHD" "0000072632" "SDHD" "0000072633" "SDHD" "0000072634" 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"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 = 447 "{{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" "90" "11" "111958677" "111958677" "subst" "0.00659124" "01164" "SDHD_000019" "g.111958677A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.112087953A>G" "" "pathogenic" "" "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" "90" "11" "111965531" "111965531" "subst" "0" "01164" "SDHD_000112" "g.111965531G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.112094807G>T" "" "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" "" "" "" "" "VUS" "" "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" "111959144" "del" "0" "01713" "SDHD_000116" "g.(?_111957571)_(111958698_111959590)del" "" "{PMID:Neumann:19351833}" "" "Deletion Exons 1-2" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "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" "" "" "" "" "VUS" "" "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" "" "VUS" "" "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" "" "likely 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" "" "VUS" "" "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" "" "VUS" "" "0000116755" "1" "59" "11" "111957652" "111957652" "del" "0" "01713" "SDHD_000056" "g.111957652del" "" "{PMID:Benn:16317055}" "" "L7fsX14" "Australia" "Germline" "" "" "0" "" "" "g.112086928del" "" "VUS" "" "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" "" "VUS" "" "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" "" "VUS" "" "0000116758" "0" "11" "11" "111957664" "111957664" "subst" "0.00000406256" "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" "" "VUS" "" "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" "" "VUS" "" "0000116761" "0" "59" "11" "111957680" "111957680" "subst" "0" "01713" "SDHD_000085" "g.111957680C>T" "" "{PMID:Papaspyrou:18213727}" "" "R17X" "" "Germline" "" "" "0" "" "" "g.112086956C>T" "" "VUS" "" "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}" "" "" "" "Germline" "" "" "0" "" "" "g.112086957G>T" "" "VUS" "" "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" "" "likely 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" "" "VUS" "" "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" "" "VUS" "" "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" "" "VUS" "" "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" "" "VUS" "" "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" "" "VUS" "" "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" "" "VUS" "" "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" "" "VUS" "" "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" "0.0000162435" "01648" "SDHD_000107" "g.111958646A>G" "0/274" "" "" "" "" "Unknown" "" "" "0" "" "" "g.112087922A>G" "" "likely pathogenic" "" "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" "" "VUS" "" "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" "" "VUS" "" "0000116780" "1" "51" "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." "Germline" "" "" "0" "" "" "g.112087929A>C" "" "VUS" "" "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" "" "VUS" "" "0000116782" "1" "51" "11" "111958666" "111958666" "subst" "0" "01643" "SDHD_000065" "g.111958666G>A" "" "DBSubm003" "" "p.Val46Val" "" "Unknown" "" "" "0" "" "" "g.112087942G>A" "" "VUS" "" "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" "" "VUS" "" "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" "" "VUS" "" "0000116785" "0" "55" "11" "111958677" "111958677" "dup" "0" "01713" "SDHD_000057" "g.111958677dup" "" "{PMID:Lendvai:19318336}" "" "p.His50fs, H50fsX68" "" "Germline" "" "" "0" "" "" "g.112087953dup" "" "VUS" "" "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" "" "VUS" "" "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" "" "VUS" "" "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" "" "VUS" "" "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" "" "VUS" "" "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" "" "VUS" "" "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" "0.00000406659" "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" "" "VUS" "" "0000116797" "0" "79" "11" "111959144" "111962632" "del" "0" "01713" "SDHD_000099" "g.(111958698_111959590)_(111959736_111965528)del" "" "{PMID:Fish:17563904}" "" "exon 3 del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000116798" "0" "59" "11" "111959144" "111962632" "del" "0" "01713" "SDHD_000099" "g.(111958698_111959590)_(111959736_111965528)del" "" "{PMID:Neumann:19351833}" "" "Deletion Exons 3" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000116799" "0" "59" "11" "111959144" "111966518" "del" "0" "01713" "SDHD_000114" "g.(111958698_111959590)_(111966518_?)del" "" "{PMID:Neumann:19351833}" "" "Deletion Exons 3-4" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000116800" "1" "59" "11" "111959602" "111959602" "del" "0" "01043" "SDHD_000073" "g.111959602del" "" "DBSubm001" "" "" "" "Unknown" "" "" "0" "" "" "g.112088878del" "" "VUS" "" "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" "" "VUS" "" "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" "" "VUS" "" "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" "" "VUS" "" "0000116806" "1" "59" "11" "111959627" "111959639" "del" "0" "01713" "SDHD_000089" "g.111959627_111959639del" "" "{PMID:Neumann:15328326}" "" "Frameshift" "" "Germline" "" "" "0" "" "" "g.112088903_112088915del" "" "VUS" "" "0000116807" "1" "55" "11" "111959629" "111959629" "subst" "0" "01713" "SDHD_000036" "g.111959629A>G" "" "{PMID:Taschner:11391798}" "" "g.7806 A ->G (R70G)" "0/50 controls" "Germline" "" "" "0" "" "" "g.112088905A>G" "" "VUS" "" "0000116808" "1" "57" "11" "111959630" "111959630" "subst" "0" "01043" "SDHD_000071" "g.111959630G>T" "" "DBSubm001 {PMID:Persu:18551016}" "" "" "" "Unknown" "" "" "0" "" "" "g.112088906G>T" "" "VUS" "" "0000116809" "0" "77" "11" "111959631" "111959631" "subst" "0" "01713" "SDHD_000104" "g.111959631G>T" "" "{PMID:Cascon:19258401}" "" "" "" "Germline" "" "" "0" "" "" "g.112088907G>T" "" "likely pathogenic" "" "0000116810" "0" "75" "11" "111959651" "111959651" "subst" "0" "01713" "SDHD_000124" "g.111959651T>G" "" "{PMID:Sevilla:19393419}" "" "" "" "Germline" "" "" "0" "" "" "g.112088927T>G" "" "likely pathogenic" "" "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" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.112088933T>G" "" "VUS" "" "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" "59" "11" "111959663" "111959663" "subst" "0.0000162467" "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" "0/300 controls" "Germline" "" "" "0" "" "" "g.112088939C>T" "" "VUS" "" "0000116816" "1" "51" "11" "111959664" "111959664" "subst" "0.00000812328" "01713" "SDHD_000041" "g.111959664G>C" "-0" "{PMID:Hui:11857371}" "" "p.Pro81Pro, CCG->CCC (codon 81 Pro->Pro)" "" "Germline" "" "" "0" "" "" "g.112088940G>C" "" "VUS" "" "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" "" "VUS" "" "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" "" "VUS" "" "0000116819" "1" "55" "11" "111959680" "111959680" "subst" "0.00000406118" "01647" "SDHD_000068" "g.111959680C>T" "" "DBSubm012" "" "" "" "Unknown" "" "" "0" "" "" "g.112088956C>T" "" "VUS" "" "0000116820" "0" "35" "11" "111959681" "111959681" "subst" "0" "01713" "SDHD_000086" "g.111959681C>A" "" "{PMID:Klein:18382370}" "" "P87H" "poss UV" "Germline" "" "" "0" "" "" "g.112088957C>A" "" "likely benign" "" "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" "" "likely pathogenic" "" "0000116822" "1" "55" "11" "111959689" "111959689" "subst" "0" "01713" "SDHD_000043" "g.111959689G>A" "" "{PMID:Cascon:14985401}" "" "" "non-conserved" "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" "" "Germline" "" "" "0" "" "" "g.112088968_112088979del" "" "VUS" "" "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" "" "" "" "" "" "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" "" "VUS" "" "0000116827" "1" "59" "11" "111959698" "111959698" "del" "0" "01713" "SDHD_000037" "g.111959698del" "" "{PMID:Dannenberg:12114404}, {PMID:Persu:18551016}" "" "Frameshift" "" "Germline" "" "" "0" "" "" "g.112088974del" "" "VUS" "" "0000116828" "1" "55" "11" "111959699" "111959699" "subst" "0.00010152" "01713" "SDHD_000014" "g.111959699A>G" "" "{PMID:De Preter:15331017}" "" "Y93C" "non-conserved, affects Tm2?" "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" "" "VUS" "" "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" "Dutch founder mutation, present in 5 families, 0/50 controls, semi-conserved, affects Tm2?" "Germline" "" "" "0" "" "" "g.112088981T>C" "" "VUS" "" "0000116831" "1" "59" "11" "111959708" "111959708" "dup" "0" "01043" "SDHD_000072" "g.111959708dup" "" "DBSubm001" "" "" "" "Unknown" "" "" "0" "" "" "g.112088984dup" "" "VUS" "" "0000116832" "1" "59" "11" "111959717" "111959717" "del" "0.00000406065" "01713" "SDHD_000040" "g.111959717del" "" "{PMID:Astuti:14974914}, {PMID:Badenhop:15235042}" "" "c.296delT, Frameshift after A98" "" "Germline" "" "" "0" "" "" "g.112088993del" "" "VUS" "" "0000116833" "0" "77" "11" "111959723" "111959723" "subst" "0" "01713" "SDHD_000105" "g.111959723T>C" "" "{PMID:Cascon:19258401}" "" "" "" "Germline" "" "" "0" "" "" "g.112088999T>C" "" "likely pathogenic" "" "0000116834" "0" "77" "11" "111959725" "111959725" "subst" "0" "01713" "SDHD_000140" "g.111959725C>T" "" "{PMID:Bacca:22290790}, {PMID:Piccini:22241717}" "" "" "Probably damaging – Polyphen 2; A-GVGD Class C65" "Germline" "" "" "0" "" "" "g.112089001C>T" "" "likely pathogenic" "" "0000116835" "0" "79" "11" "111959726" "111959726" "subst" "0.00000406065" "01713" "SDHD_000139" "g.111959726A>G" "" "{PMID:Poeppel:22025150}" "" "p.H102R" "" "Germline" "" "" "0" "" "" "g.112089002A>G" "" "likely pathogenic" "" "0000116836" "1" "57" "11" "111959726" "111959726" "subst" "0" "01713" "SDHD_000005" "g.111959726A>T" "" "{PMID:Baysal:10657297}" "" "CAT->CTT, His102->Leu," "semi-conserved, affects Tm2 and Uq binding domain?" "Germline" "" "" "0" "" "" "g.112089002A>T" "" "VUS" "" "0000116837" "0" "77" "11" "111959732" "111959732" "subst" "0" "01659" "SDHD_000138" "g.111959732A>C" "" "" "" "" "" "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" "" "VUS" "" "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" "" "VUS" "" "0000116840" "0" "57" "11" "111959736" "111959736" "subst" "0" "01713" "SDHD_000087" "g.111959736G>C" "" "{PMID:Persu:18551016}" "" "Abberrant splicing" "" "Germline" "" "" "0" "" "" "g.112089012G>C" "" "VUS" "" "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" "conserved residue, in Tm2/ putative Uq binding domain, Italy" "Germline" "" "" "0" "" "" "g.112094807G>A" "" "VUS" "" "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" "" "VUS" "" "0000116850" "1" "55" "11" "111965545" "111965545" "subst" "0.000012212" "01645" "SDHD_000070" "g.111965545G>A" "" "DBSubm015" "" "" "" "Unknown" "" "" "0" "" "" "g.112094821G>A" "" "VUS" "" "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" "" "VUS" "" "0000116852" "1" "55" "11" "111965549" "111965549" "subst" "0.0000040705" "01713" "SDHD_000066" "g.111965549C>T" "" "{PMID:Simi:16061558}, {PMID:Mannelli:17102085 }" "" "" "Identified in Q109X family (Simi et al)" "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" "" "VUS" "" "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" "" "VUS" "" "0000116855" "1" "57" "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, conserved, affects Tm2 and Uq binding domain? Somatic mutation (Braun)?" "Somatic" "" "" "0" "" "" "g.112094831A>G" "" "VUS" "" "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" "" "VUS" "" "0000116859" "0" "59" "11" "111965556" "111965556" "subst" "0" "01713" "SDHD_000083" "g.111965556T>A" "" "" "" "p.Y114X" "" "Germline" "" "" "0" "" "" "g.112094832T>A" "" "VUS" "" "0000116860" "0" "55" "11" "111965568" "111965568" "subst" "0.00000407203" "01713" "SDHD_000100" "g.111965568T>G" "" "{PMID:Takahashi:16061554}" "" "D119E" "" "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" "" "VUS" "" "0000116862" "1" "59" "11" "111965580" "111965580" "del" "0" "01713" "SDHD_000062" "g.111965580del" "" "{PMID:Amar:16314641}" "" "p.Ala123fs" "" "Germline" "" "" "0" "" "" "g.112094856del" "" "VUS" "" "0000116863" "0" "55" "11" "111965581" "111965581" "subst" "0" "01713" "SDHD_000130" "g.111965581G>A" "" "{PMID: Hermsen:20208144}" "" "" "" "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" "" "VUS" "" "0000116867" "1" "59" "11" "111965600" "111965601" "dup" "0" "01648" "SDHD_000076" "g.111965600_111965601dup" "" "Garcia-Rostan{PMID:Sevilla:19393419}" "" "" "" "Unknown" "" "" "0" "" "" "g.112094876_112094877dup" "" "VUS" "" "0000116868" "0" "59" "11" "111965619" "111965619" "del" "0" "01713" "SDHD_000090" "g.111965619del" "" "{PMID:Persu:18551016}" "" "c.404delC, p.T135PfsX33" "" "Germline" "" "" "0" "" "" "g.112094895del" "" "VUS" "" "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" "" "likely pathogenic" "" "0000116871" "0" "75" "11" "111965625" "111965625" "del" "0" "01657" "SDHD_000135" "g.111965625del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.112094901del" "" "likely pathogenic" "" "0000116872" "0" "75" "11" "111965625" "111965625" "del" "0" "01657" "SDHD_000135" "g.111965625del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.112094901del" "" "likely 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" "" "VUS" "" "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" "0.00000822443" "01713" "SDHD_000082" "g.111965647C>A" "" "{PMID:Ni:18678321}" "" "" "change tolerated by SIFT analysis, poorly conserved." "Germline" "" "" "0" "" "" "g.112094923C>A" "" "likely pathogenic" "" "0000116876" "1" "59" "11" "111965657" "111965657" "del" "0" "01713" "SDHD_000049" "g.111965657del" "" "{PMID:Neumann:15328326}" "" "441 del G Frameshift" "" "Germline" "" "" "0" "" "" "g.112094933del" "" "VUS" "" "0000116877" "1" "59" "11" "111965657" "111965657" "del" "0" "01713" "SDHD_000009" "g.111965657del" "" "{PMID:Milunsky:11343322}, {PMID:Novosel:15365827}" "" "13838delG" "" "Germline" "" "" "0" "" "" "g.112094933del" "" "VUS" "" "0000116878" "1" "55" "11" "111965657" "111965657" "subst" "0" "01713" "SDHD_000063" "g.111965657G>A" "" "{PMID:Benn:16317055}, {PMID:Timmers:17973943}" "" "G148D" "" "Germline" "" "" "0" "" "" "g.112094933G>A" "" "VUS" "" "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, conserved" "Germline" "" "" "0" "" "" "g.112094933G>T" "" "VUS" "" "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" "" "VUS" "" "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" "" "VUS" "" "0000116882" "1" "55" "11" "111965660" "111965660" "subst" "0" "01713" "SDHD_000064" "g.111965660T>A" "" "{PMID:Amar 2005:16314641}, {PMID:Benn 2006:16317055}" "" "I149N" "" "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" "" "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" "" "VUS" "" "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" "" "VUS" "" "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" "" "VUS" "" "0000128307" "1" "50" "11" "111958667" "111958667" "subst" "0" "01713" "SDHD_000169" "g.111958667C>T" "" "{PMID:Buffet:22517557}" "" "" "" "Unknown" "" "" "0" "" "" "g.112087943C>T" "" "VUS" "" "0000128308" "1" "50" "11" "111958647" "111958653" "del" "0" "01713" "SDHD_000168" "g.111958647_111958653del" "" "{PMID:Buffet:22517557}" "" "" "" "Unknown" "" "" "0" "" "" "g.112087923_112087929del" "" "VUS" "" "0000128309" "1" "50" "11" "111958694" "111958694" "del" "0" "01713" "SDHD_000146" "g.111958694del" "" "{PMID:Buffet:22517557}" "" "" "" "Unknown" "" "" "0" "" "" "g.112087970del" "" "VUS" "" "0000128310" "1" "50" "11" "111958677" "111958677" "dup" "0" "01713" "SDHD_000057" "g.111958677dup" "" "{PMID:Buffet:22517557}" "" "" "" "Unknown" "" "" "0" "" "" "g.112087953dup" "" "VUS" "" "0000128311" "1" "50" "11" "111958686" "111958686" "subst" "0.0000406171" "01713" "SDHD_000145" "g.111958686C>T" "" "{PMID:Lefebvre:22517554}" "" "" "" "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" "" "VUS" "" "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}" "" "" "" "Unknown" "" "" "0" "" "" "g.112088972_112088983del" "" "VUS" "" "0000128316" "1" "50" "11" "111959630" "111959630" "subst" "0" "01713" "SDHD_000148" "g.111959630G>C" "" "{PMID:Buffet:22517557}" "" "" "Align GVGD: Class C65" "Unknown" "" "" "0" "" "" "g.112088906G>C" "" "VUS" "" "0000128317" "1" "50" "11" "111959660" "111959660" "subst" "0" "01713" "SDHD_000150" "g.111959660T>G" "" "{PMID:Buffet:22517557}" "" "" "Align GVGD: Class C65" "Unknown" "" "" "0" "" "" "g.112088936T>G" "" "VUS" "" "0000128318" "1" "50" "11" "111959726" "111959726" "subst" "0" "01713" "SDHD_000156" "g.111959726A>C" "" "{PMID:Buffet:22517557}" "" "" "Align GVGD: Class C65" "Unknown" "" "" "0" "" "" "g.112089002A>C" "" "VUS" "" "0000128319" "1" "50" "11" "111959733" "111959733" "subst" "0" "01713" "SDHD_000157" "g.111959733C>G" "" "{PMID:Buffet:22517557}" "" "" "Align GVGD: Class C65" "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" "" "VUS" "" "0000128321" "1" "50" "11" "111959663" "111959663" "del" "0" "01713" "SDHD_000151" "g.111959663del" "" "{PMID:Buffet:22517557}" "" "" "" "Unknown" "" "" "0" "" "" "g.112088939del" "" "VUS" "" "0000128322" "1" "50" "11" "111959681" "111959681" "del" "0" "01713" "SDHD_000152" "g.111959681del" "" "{PMID:Buffet:22517557}" "" "" "" "Unknown" "" "" "0" "" "" "g.112088957del" "" "VUS" "" "0000128323" "1" "50" "11" "111959711" "111959711" "subst" "0.00000406062" "01713" "SDHD_000154" "g.111959711C>T" "" "{PMID:Canu:24758185}" "" "" "" "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" "50" "11" "111959719" "111959722" "del" "0" "01713" "SDHD_000155" "g.111959719_111959722del" "" "{PMID:Xekouki:22170724}" "" "" "LOH" "Unknown" "" "" "0" "" "" "g.112088995_112088998del" "" "VUS" "" "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" "50" "11" "111965530" "111965530" "subst" "0" "01713" "SDHD_000160" "g.111965530G>C" "" "{PMID:Buffet:22517557}" "" "" "Align GVGD: Class C65" "Unknown" "" "" "0" "" "" "g.112094806G>C" "" "VUS" "" "0000128328" "1" "50" "11" "111965540" "111965540" "subst" "0" "01713" "SDHD_000161" "g.111965540A>T" "" "{PMID:Buffet:22517557}" "" "" "Mutation unclear from paper" "Unknown" "" "" "0" "" "" "g.112094816A>T" "" "VUS" "" "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" "" "VUS" "" "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" "" "VUS" "" "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" "" "VUS" "" "0000128335" "1" "50" "11" "111965544" "111965545" "ins" "0" "01713" "SDHD_000162" "g.111965544_111965545ins27" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "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 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"pathogenic" "" "0000239694" "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" "" "0000239695" "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" "" "0000239696" "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" "" "0000239697" "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" "" "0000239698" "11" "99" "11" "111959695" "111959695" "subst" "0" "02351" 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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}" "" "" "" "Germline" "" "" "0" "" "" "g.112088996C>T" "" "VUS" "" "0000239864" "11" "55" "11" "111959705" "111959705" "subst" "0" "02351" "SDHD_000172" "g.111959705T>G" "" "{DOI:Heesterman 2018:10.1038/s41431-018-0016-4}" "" "" "" "Germline" "" "" "0" "" "" "g.112088981T>G" "" "VUS" "" "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_003002.3):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_003002.3):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.L139P), 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_003002.3):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.L139P), 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" "0.0000609246" "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_003002.3):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_001276503.1):c.169+928C>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_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" "" "0000336999" "0" "30" "11" "111957613" "111957613" "subst" "0.00000812334" "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_001276503.1):c.169+928C>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" "0.0000365473" "02327" "SDHD_000176" "g.111959703C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112088979C>G" "" "likely benign" "" "0000344209" "0" "90" "11" "111959695" "111959695" "subst" "0" "02327" "SDHD_000004" "g.111959695G>T" "" "" "" "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_003002.3):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_003002.3):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.L139P), 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_003002.3):c.34G>A (p.G12S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112086941G>A" "" "likely benign" "" "0000542359" "0" "30" "11" "111958581" "111958581" "subst" "0.0000609246" "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_003002.3):c.53C>T (p.A18V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112087857C>T" "" "likely benign" "" "0000542360" "0" "50" "11" "111958686" "111958686" "subst" "0.0000406171" "02329" "SDHD_000145" "g.111958686C>T" "" "" "" "SDHD(NM_003002.3):c.158C>T (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_001276503.1):c.169+928C>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" "70" "11" "111965555" "111965555" "subst" "0" "02327" "SDHD_000173" "g.111965555A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "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" "" "VUS" "" "0000660364" "1" "50" "11" "111957665" "111957665" "subst" "0.00756037" "00006" "SDHD_000011" "g.111957665G>A" "" "{PMID:Taylor 2014:25058219}" "" "" "" "Germline" "" "" "0" "" "" "g.112086941G>A" "" "VUS" "" "0000660365" "2" "50" "11" "111965600" "111965600" "subst" "0" "00006" "SDHD_000174" "g.111965600T>C" "" "{PMID:Taylor 2014:25058219}" "" "" "" "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" "0.0000162467" "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" "0.0000609246" "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_003002.3):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" "" "0000804869" "0" "30" "11" "111963789" "111963789" "subst" "0" "02369" "SDHD_000178" "g.111963789G>T" "" "" "" "SDHD(NM_001276506.2):c.315-15G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely 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" "0.000012212" "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" "0.000012212" "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" "0.000012212" "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 (dominant)" "" "0000862291" "0" "10" "11" "111959625" "111959625" "subst" "0.0332881" "01804" "SDHD_000034" "g.111959625C>T" "" "" "" "SDHD(NM_001276503.1):c.169+928C>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" "0.00000406659" "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" "0.0000162467" "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" "" "likely pathogenic (recessive)" "" ## 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 = 447 "{{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}}" "0000064205" "00018578" "90" "149" "0" "149" "0" "c.149A>G" "r.(?)" "p.(His50Arg)" "2" "" "" "0000064206" "00018578" "10" "1093" "0" "1093" "0" "c.*613T>C" "r.(?)" "p.(=)" "4" "" "" "0000064207" "00018578" "90" "317" "0" "317" "0" "c.317G>T" "r.(?)" "p.(Gly106Val)" "4" "" "" "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_" "" "" "0000116743" "00018578" "99" "-8828" "0" "169" "442" "c.-8828_169+442del" "r.?" "p.?" "_1_2i" "" "" "0000116744" "00018578" "99" "-1427" "0" "169" "29" "c.-1427_169+29del" "r.?" "p.?" "_1_2i" "" "" "0000116745" "00018578" "59" "-61" "0" "170" "0" "c.(?_-61)_(169+1_170-1)del" "r.?" "p.?" "_1_2i" "" "" "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" "" "" "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" "" "" "0000116750" "00018578" "99" "2" "0" "3" "0" "c.2_3inv" "r.(?)" "p.(Met1?)" "1" "" "" "0000116751" "00018578" "99" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.(Met1?)" "1" "" "" "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" "" "" "0000116755" "00018578" "59" "21" "0" "21" "0" "c.21del" "r.(?)" "p.(Ser8Valfs*7)" "1" "" "" "0000116756" "00018578" "59" "28" "0" "33" "0" "c.28_33delinsTAGGAGGCCCTA" "r.(?)" "p.(Val10*)" "1" "" "" "0000116757" "00018578" "59" "33" "0" "33" "0" "c.33C>A" "r.(?)" "p.(Cys11*)" "1" "" "" "0000116758" "00018578" "11" "33" "0" "33" "0" "c.33C>T" "r.(?)" "p.(=)" "1" "" "" "0000116759" "00018578" "51" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Gly12Ser)" "1" "" "" "0000116760" "00018578" "59" "36" "0" "37" "0" "c.36_37del" "r.(?)" "p.(Ala13Profs*55)" "1" "" "" "0000116761" "00018578" "59" "49" "0" "49" "0" "c.49C>T" "r.(?)" "p.(Arg17*)" "1" "" "" "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" "" "" "0000116764" "00018578" "57" "52" "2" "52" "2" "c.52+2T>G" "r.spl" "p.?" "1i" "" "" "0000116765" "00018578" "77" "-25655" "0" "169" "315" "c.-25655_169+315del" "r.?" "p.?" "_1_2i" "" "" "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" "" "" "0000116768" "00018578" "59" "55" "0" "56" "0" "c.55_56dup" "r.(?)" "p.(Leu20Cysfs*67)" "1" "" "" "0000116769" "00018578" "59" "57" "0" "57" "0" "c.57del" "r.(?)" "p.(Leu20Cysfs*66)" "1" "" "" "0000116770" "00018578" "59" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Arg22*)" "2" "" "" "0000116771" "00018578" "51" "90" "0" "90" "0" "c.90T>C" "r.(?)" "p.(=)" "2" "" "" "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" "" "" "0000116774" "00018578" "59" "106" "0" "106" "0" "c.106C>T" "r.(?)" "p.(Gln36*)" "2" "" "" "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" "" "" "0000116778" "00018578" "59" "122" "0" "122" "0" "c.122dup" "r.(?)" "p.(Glu42Argfs*27)" "2" "" "" "0000116779" "00018578" "59" "120" "0" "127" "0" "c.120_127del" "r.(?)" "p.(Ile40Metfs*26)" "2" "" "" "0000116780" "00018578" "51" "125" "0" "125" "0" "c.125A>C" "r.(?)" "p.(Glu42Ala)" "2" "" "" "0000116781" "00018578" "59" "129" "0" "129" "0" "c.129G>A" "r.(?)" "p.(Trp43*)" "2" "" "" "0000116782" "00018578" "51" "138" "0" "138" "0" "c.138G>A" "r.(?)" "p.(=)" "2" "" "" "0000116783" "00018578" "59" "147" "0" "147" "0" "c.147dup" "r.(?)" "p.(His50Thrfs*19)" "2" "" "" "0000116784" "00018578" "59" "149" "0" "149" "0" "c.149dup" "r.(?)" "p.(His50Glnfs*19)" "2" "" "" "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" "" "" "0000116788" "00018578" "57" "169" "0" "169" "9" "c.169_169+9del" "r.spl" "p.?" "2_2i" "" "" "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" "" "" "0000116791" "00018578" "57" "169" "1" "169" "1" "c.169+1G>T" "r.spl" "p.?" "2i" "" "" "0000116792" "00018578" "59" "169" "5" "169" "5" "c.169+5G>A" "r.spl?" "p.?" "2i" "" "" "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" "" "" "0000116797" "00018578" "79" "170" "0" "315" "0" "c.(169+1_170-1)_(314+1_315-1)del" "r.?" "p.?" "1i_3i" "" "" "0000116798" "00018578" "59" "170" "0" "315" "0" "c.(169+1_170-1)_(314+1_315-1)del" "r.?" "p.?" "1i_3i" "" "" "0000116799" "00018578" "59" "170" "0" "1304" "0" "c.(169+1_170-1)_(*824_?)del" "r.?" "p.?" "1i_4_" "" "" "0000116800" "00018578" "59" "181" "0" "181" "0" "c.181del" "r.(?)" "p.(Ala61Leufs*25)" "3" "" "" "0000116801" "00018578" "99" "184" "0" "185" "0" "c.184_185insTC" "r.(?)" "p.(Ala62Valfs*25)" "3" "" "" "0000116802" "00018578" "99" "188" "0" "198" "0" "c.188_198del" "r.(?)" "p.(Ser63Tyrfs*2)" "3" "" "" "0000116803" "00018578" "59" "191" "0" "192" "0" "c.191_192del" "r.(?)" "p.(Leu64Profs*4)" "3" "" "" "0000116804" "00018578" "59" "202" "0" "202" "0" "c.202dup" "r.(?)" "p.(Ser68Lysfs*46)" "3" "" "" "0000116805" "00018578" "51" "204" "0" "204" "0" "c.204C>T" "r.(?)" "p.(=)" "3" "" "" "0000116806" "00018578" "59" "206" "0" "218" "0" "c.206_218del" "r.(?)" "p.(Glu69Valfs*13)" "3" "" "" "0000116807" "00018578" "55" "208" "0" "208" "0" "c.208A>G" "r.(?)" "p.(Arg70Gly)" "3" "" "" "0000116808" "00018578" "57" "209" "0" "209" "0" "c.209G>T" "r.(?)" "p.(Arg70Met)" "3" "" "" "0000116809" "00018578" "77" "210" "0" "210" "0" "c.210G>T" "r.(?)" "p.(Arg70Ser)" "3" "" "" "0000116810" "00018578" "75" "230" "0" "230" "0" "c.230T>G" "r.(?)" "p.(Leu77Arg)" "3" "" "" "0000116811" "00018578" "99" "234" "0" "243" "0" "c.234_243del" "r.(?)" "p.(Pro81Ilefs*2)" "3" "" "" "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" "" "" "0000116814" "00018578" "99" "241" "0" "262" "0" "c.241_262del" "r.(?)" "p.(Pro81Alafs*47)" "3" "" "" "0000116815" "00018578" "59" "242" "0" "242" "0" "c.242C>T" "r.(?)" "p.(Pro81Leu)" "3" "" "" "0000116816" "00018578" "51" "243" "0" "243" "0" "c.243G>C" "r.(?)" "p.(=)" "3" "" "" "0000116817" "00018578" "59" "252" "0" "252" "0" "c.252T>G" "r.(?)" "p.(Tyr84*)" "3" "" "" "0000116818" "00018578" "59" "254" "0" "254" "0" "c.254T>A" "r.(?)" "p.(Leu85*)" "3" "" "" "0000116819" "00018578" "55" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(Pro87Ser)" "3" "" "" "0000116820" "00018578" "35" "260" "0" "260" "0" "c.260C>A" "r.(?)" "p.(Pro87His)" "3" "" "" "0000116821" "00018578" "77" "264" "0" "273" "0" "c.264_273del" "r.(?)" "p.(Cys88Trpfs*44)" "3" "" "" "0000116822" "00018578" "55" "268" "0" "268" "0" "c.268G>A" "r.(?)" "p.(Ala90Thr)" "3" "" "" "0000116823" "00018578" "59" "271" "0" "282" "0" "c.271_282del" "r.(?)" "p.(Met91_Ser94del)" "3" "" "" "0000116824" "00018578" "99" "274" "0" "274" "0" "c.274G>T" "r.(?)" "p.(Asp92Tyr)" "3" "" "" "0000116825" "00018578" "95" "274" "0" "279" "0" "c.274_279del" "r.(?)" "p.(Asp92_Tyr93del)" "3" "" "" "0000116826" "00018578" "55" "276" "0" "278" "0" "c.276_278del" "r.(?)" "p.(Tyr93del)" "3" "" "" "0000116827" "00018578" "59" "277" "0" "277" "0" "c.277del" "r.(?)" "p.(Tyr93Ilefs*42)" "3" "" "" "0000116828" "00018578" "55" "278" "0" "278" "0" "c.278A>G" "r.(?)" "p.(Tyr93Cys)" "3" "" "" "0000116829" "00018578" "59" "279" "0" "279" "0" "c.279T>G" "r.(?)" "p.(Tyr93*)" "3" "" "" "0000116830" "00018578" "59" "284" "0" "284" "0" "c.284T>C" "r.(?)" "p.(Leu95Pro)" "3" "" "" "0000116831" "00018578" "59" "287" "0" "287" "0" "c.287dup" "r.(?)" "p.(Ala97Cysfs*17)" "3" "" "" "0000116832" "00018578" "59" "296" "0" "296" "0" "c.296del" "r.(?)" "p.(Leu99Profs*36)" "3" "" "" "0000116833" "00018578" "77" "302" "0" "302" "0" "c.302T>C" "r.(?)" "p.(Leu101Pro)" "3" "" "" "0000116834" "00018578" "77" "304" "0" "304" "0" "c.304C>T" "r.(?)" 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"p.(Asp92Tyr)" "3" "" "" "0000239820" "00018578" "99" "242" "0" "242" "0" "c.242C>T" "r.(?)" "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.0?" "1" "" "" "0000239863" "00018578" "55" "299" "0" "299" "0" "c.299C>T" "r.(?)" "p.(Thr100Ile)" "3" "" "" "0000239864" "00018578" "55" "284" "0" "284" "0" "c.284T>G" "r.(?)" "p.(Leu95Arg)" "3" "" "" "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)" "" "" "" "0000302018" "00018578" "50" "180" "0" "180" "0" "c.180G>A" "r.(?)" "p.(Lys60=)" "" "" "" "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)" "" "" "" "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=)" "" "" "" "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" "70" "341" "0" "341" "0" "c.341A>T" "r.(?)" "p.(Tyr114Phe)" "" "" "" "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" "50" "386" "0" "386" "0" "c.386T>C" "r.(?)" "p.(Leu129Ser)" "" "" "" "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.(=)" "" "" "" "0000804869" "00018578" "30" "315" "-1740" "315" "-1740" "c.315-1740G>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.(Ala33IlefsTer35)" "" "" "" "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.(Arg38Ter)" "" "" "" "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.(?)" 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