### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SDHB) # 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}}" "SDHB" "succinate dehydrogenase complex, subunit B, iron sulfur (Ip)" "1" "p36.1-p35" "unknown" "NG_012340.1" "UD_130020516904" "" "http://www.LOVD.nl/SDHB" "" "1" "10681" "6390" "185470" "1" "1" "1" "1" "Please note the 2021 update of SDHB variants classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). \r\nCurated variants can be selected by typing \'NGS\' in the \'Variant remarks\' column and the variants further sorted as needed.\r\n\r\nUsing Mutalyzer? (https://mutalyzer.nl/normalizer/)\r\nMake sure to use this gene-transcript configuration: NG_012340.1(NM_003000.2):\r\n\r\nInterpreting In Silico scores in SDH Variant DBs \r\nWe provide REVEL (unfortunately, due to technical reasons in the column named \"Mutation Taster\"), AGVGD and SIFT scores. REVEL (rare exome variant ensemble learner) is an ensemble method for predicting the pathogenicity of missense variants on the basis of the individual tools MutPred, FATHMM, VEST, Poly-Phen, SIFT, PROVEAN, MutationAssessor, MutationTaster, LRT, GERP, SiPhy, phyloP, and phastCons. (N.M. Ioannidis et al. American Journal of Human Genetics 99, 877–885, October 6, 2016). Align-GVGD assesses biophysical characteristics of amino acids and protein multiple sequence alignments to predict impact, with a score somewhere between 0 and 250, the higher the scores the more deleterious the change. The GD score is provided and is often very similar to raw Grantham traditional scores. SIFT (Sorting Intolerant From Tolerant) predicts whether an amino acid substitution affects protein function based on sequence homology and the physical properties of amino acids. In general, SIFT provides the least informative of the three scores. In general, scores above 0.6 in REVEL and scores above 80 in AGVGD indicate potentially pathogenic variants. Known pathogenic variants present in SDH LOVD invariably show high scores.\r\n\r\nA VUS in PPGL/HNPGL?\r\nIn the opinion of the curator the use of the term “VUS” is now excessive. In the case of rare diseases with variants in known causative genes, the emphasis should not be conservative (as in common conditions) but should assume causation and seek supportive evidence (conservation, protein region affected, in silico prediction tools, number of time reported in patients and in gnomAD). Only when no supporting evidence is found should one use the term “VUS”.\r\n\r\nCITATION: This database is one of the TCA cycle gene variant databases. 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/SDHB_codingDNA.html" "1" "" "Leiden University Medical Center SDHB gene variant and NGSnPPGL study group (ENS@T/PRESSOR) database\r\n
\r\n
" "-1" "" "-1" "00001" "2005-01-05 00:00:00" "01713" "2023-02-16 10:40:12" "00000" "2025-10-10 16:36:04" ## 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}}" "00018576" "SDHB" "succinate dehydrogenase complex, subunit B, iron sulfur (Ip)" "001" "NM_003000.2" "" "NP_002991.2" "" "" "" "-151" "1002" "843" "17380665" "17345217" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 17 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00318" "cancer, breast" "cancer, breast" "" "" "" "" "" "00006" "2014-02-02 14:42:53" "00006" "2019-08-28 08:24:47" "00764" "RCC" "carcinoma, renal cell (RCC)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:50:05" "00999" "Carney complex" "Carney complex variant" "" "608837" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-08-13 09:29:05" "01230" "PGL4" "paragangliomas, type 4 (PGL-4)" "AD" "115310" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01503" "pheochromocytoma" "pheochromocytoma (susceptibility to)" "AD" "171300" "cerebral cortex" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-01-04 19:51:33" "01544" "RB1" "retinoblastoma, type 1" "AD;SMu" "180200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-01-14 18:01:23" "02544" "PGL3" "paragangliomas, type 3 (PGL-3)" "AD" "605373" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02601" "GIST" "cancer, gastrointestinal stromal (GIST, gastrointestinal stromal tumor)" "AD;IC" "606764" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02614" "-" "paraganglioma, gastric stromal sarcoma" "" "606864" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-10-23 11:33:35" "03129" "CWS2" "Cowden syndrome, type 2 (CWS-2)" "" "612359" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03407" "LKDMN" "Leukoencephalopathy with dystonia and motor neuropathy" "AR" "613724" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04296" "MINAS" "neoplasia, multiple inherited alleles (MINAS)" "AD;AR;SMo" "" "" "" "" "00006" "2015-07-02 09:20:44" "00006" "2021-12-10 21:51:32" "05085" "PGL" "paraganglioma (PGL)" "" "" "" "" "" "00006" "2015-10-23 11:34:02" "00006" "2015-12-08 23:53:58" "05093" "cancer" "cancer" "" "" "" "" "" "00006" "2015-10-23 13:34:05" "" "" "05489" "cancer, colon" "cancer, colon" "" "" "" "" "" "00006" "2018-10-26 16:33:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "SDHB" "01230" "SDHB" "02601" "SDHB" "02614" "SDHB" "03129" ## Individuals ## Do not remove or alter this header ## ## Count = 363 "{{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}}" "00037001" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037002" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037003" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037004" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037005" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037006" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037007" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037008" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00072362" "" "" "" "1" "" "01713" "" "no family history; 1 isolated case" "" "" "Spain" "" "0" "" "" "" "" "00072363" "" "" "" "3" "" "01713" "" "paternal grandmother - renal cell carcinoma, Fam – retroperitoneal PGL, metatases; 3 families 44 affected; 3 isolated cases" "" "" "Spain" "" "0" "" "" "" "" "00072364" "" "" "" "1" "" "01713" "" "father - PGL Zuckerkandl, two brothers with increased dopamine, all mutation positive; 1 family 4 affected" "" "" "Spain" "" "0" "" "" "" "" "00072365" "" "" "" "1" "" "01713" "" "1 family 3 affected" "" "" "Brazil" "" "0" "" "" "" "" "00072366" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "France" "" "0" "" "" "" "" "00072367" "" "" "" "1" "" "01713" "" "" "" "" "Spain" "" "0" "" "" "" "" "00072368" "" "" "" "2" "" "01713" "" "1 isolated case" "" "" "Germany" "" "0" "" "" "" "" "00072369" "" "" "" "1" "" "01713" "" "1 family 2 affected" "" "" "Italy" "" "0" "" "" "" "" "00072370" "" "" "" "1" "" "01713" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00072371" "" "" "" "7" "" "01713" "" "(RCC-UK); 8 families 15 affected; 3 isolated cases" "" "" "Australia; New Zealand; United Kingdom (Great Britain); United States" "" "0" "" "" "" "" "00072372" "" "" "" "3" "" "01713" "" "" "" "" "Australia; Italy" "" "0" "" "" "" "" "00072373" "" "" "" "1" "" "01713" "" "" "" "" "Australia" "" "0" "" "" "" "" "00072374" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "United States" "" "0" "" "" "" "" "00072375" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Australia" "" "0" "" "" "" "" "00072376" "" "" "" "6" "" "01713" "" "OMIM185470:0006; 3 families 3 affected; 4 isolated cases" "" "" "Germany;Poland; Finland; Spain; Japan" "" "0" "" "" "" "" "00072377" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Germany;Poland" "" "0" "" "" "" "" "00072378" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Poland" "" "0" "" "" "" "" "00072379" "" "" "" "2" "" "01713" "" "1 family 3 affected; 1 isolated case" "" "" "United States" "" "0" "" "" "" "" "00072380" "" "" "" "1" "" "01713" "" "1 family 17 affected" "" "" "Australia" "" "0" "" "" "" "" "00072381" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "France" "" "0" "" "" "" "" "00072382" "" "" "" "3" "" "01713" "" "3 families 7 affected; 4 isolated cases" "" "" "Germany;Poland" "" "0" "" "" "" "" "00072383" "" "" "" "8" "" "01713" "" "5 families 12 affected; 5 isolated cases" "" "" "Australia; United States; United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072384" "" "" "" "12" "" "01713" "" "0/50 controls, Italy, and other countries {PMID:Klein:18382370}, {PMID:Ricketts:18728283} = RCC, {PMID:Ghayee:19075037}; 6 families 14 affected; 6 isolated cases" "" "" "France" "" "0" "" "" "" "" "00072385" "" "" "" "3" "" "01713" "" "UK (metastatic RCC); 2 families 7 affected; 1 isolated case" "" "" "Italy; United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072386" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Germany" "" "0" "" "" "" "" "00072387" "" "" "" "7" "" "01713" "" "3 families 5 affected; 9 isolated cases" "" "" "Spain; Belgium" "" "0" "" "" "" "" "00072388" "" "" "" "2" "" "01713" "" "1 family 1 affected" "" "" "France" "" "0" "" "" "" "" "00072389" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "United States" "" "0" "" "" "" "" "00072390" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Australia" "" "0" "" "" "" "" "00072391" "" "" "" "1" "" "01713" "" "1 family 3 affected" "" "" "Germany" "" "0" "" "" "" "" "00072392" "" "" "" "2" "" "01713" "" "" "" "" "Australia; Italy" "" "0" "" "" "" "" "00072393" "" "" "" "1" "" "01713" "" "Polymorphism?" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072394" "" "" "" "2" "" "01713" "" "" "" "" "United Kingdom (Great Britain); Italy" "" "0" "" "" "" "" "00072395" "" "" "" "1" "" "01713" "" "1 family 2 affected" "" "" "United States" "" "0" "" "" "" "" "00072396" "" "" "" "2" "" "01713" "" "0/300 controls, 1/100 controls; 2 families 8 affected; 2 isolated cases" "" "" "United Kingdom (Great Britain); Germany" "" "0" "" "" "" "" "00072397" "" "" "" "8" "" "01713" "" "OMIM185470:0001; 5 families 12 affected; 4 isolated cases" "" "" "Sweden;France; Australia; United Kingdom (Great Britain); Saudi Arabia" "" "0" "" "" "" "" "00072398" "" "" "" "2" "" "01713" "" "2 isolated cases" "" "" "Italy; Spain" "" "0" "" "" "" "" "00072399" "" "" "" "2" "" "01648" "" "1 family 2 affected" "" "" "Portugal" "" "0" "" "" "" "" "00072400" "" "" "" "3" "" "01645" "" "3 isolated cases" "M" "" "Japan; United States; Italy" "" "0" "" "" "" "" "00072401" "" "" "" "2" "" "01713" "" "2 isolated cases" "" "" "United States" "" "0" "" "" "" "" "00072402" "" "" "" "1" "" "01713" "" "2 isolated cases" "" "" "Germany" "" "0" "" "" "" "" "00072403" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "United States" "" "0" "" "" "" "" "00072404" "" "" "" "3" "" "01713" "" "1 family 1 affected; 2 isolated cases" "" "" "United States" "" "0" "" "" "" "" "00072405" "" "" "" "2" "" "01648" "" "2 families 3 affected" "" "" "United States" "" "0" "" "" "" "" "00072406" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "Australia" "" "0" "" "" "" "" "00072407" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072408" "" "" "" "1" "" "01642" "" "1 family 2 affected" "" "" "United States; Spain; Italy" "" "0" "" "" "" "" "00072409" "" "" "" "2" "" "01713" "" "1 family 2 affected; 2 isolated cases" "" "" "Germany;Poland" "" "0" "" "" "" "" "00072410" "" "" "" "1" "" "01713" "" "1 family 2 affected" "" "" "Australia" "" "0" "" "" "" "" "00072411" "" "" "" "2" "" "01648" "" "1 family 2 affected" "" "" "Portugal" "" "0" "" "" "" "" "00072412" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "United States" "" "0" "" "" "" "" "00072413" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072414" "" "" "" "7" "" "01713" "" "3 families 11 affected; 5 isolated cases" "" "" "Canada; New Zealand; Australia; United Kingdom (Great Britain); United States" "" "0" "" "" "" "" "00072415" "" "" "" "1" "" "01713" "" "1 family 3 affected" "" "" "United States" "" "0" "" "" "" "" "00072416" "" "" "" "3" "" "01713" "" "3 isolated cases" "" "" "United States; France" "" "0" "" "" "" "" "00072417" "" "" "" "1" "" "01713" "" "1 family 6 affected" "" "" "Switzerland" "" "0" "" "" "" "" "00072418" "" "" "" "6" "" "01713" "" "2 families 11 affected; 2 isolated cases" "" "" "United States" "" "0" "" "" "" "" "00072419" "" "" "" "1" "" "01713" "" "" "" "" "" "" "0" "" "" "" "" "00072420" "" "" "" "5" "" "01043" "" "3 families 35 affected; 4 isolated cases" "" "" "Netherlands; Australia; Italy" "" "0" "" "" "" "" "00072421" "" "" "" "5" "" "01713" "" "2 families 2 affected" "" "" "France" "" "0" "" "" "" "" "00072422" "" "" "" "3" "" "01713" "" "2 families 7 affected; 2 isolated cases" "" "" "United States" "" "0" "" "" "" "" "00072423" "" "" "" "1" "" "01713" "" "2 families 5 affected" "" "" "Australia" "" "0" "" "" "" "" "00072424" "" "" "" "1" "" "01648" "" "1 isolated case" "" "" "Portugal" "" "0" "" "" "" "" "00072425" "" "" "" "1" "" "01713" "" "1 family 2 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072426" "" "" "" "1" "" "01713" "" "1 family 3 affected" "" "" "Germany" "" "0" "" "" "" "" "00072427" "" "" "" "1" "" "01713" "" "" "" "" "United States" "" "0" "" "" "" "" "00072428" "" "" "" "1" "" "01648" "" "1 isolated case" "" "" "Spain; Portugal" "" "0" "" "" "" "" "00072429" "" "" "" "4" "" "01713" "" "1 family 4 affected; 2 isolated cases" "" "" "Germany;Poland; United States" "" "0" "" "" "" "" "00072430" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "France" "" "0" "" "" "" "" "00072431" "" "" "" "1" "" "01646" "" "" "F" "" "Italy" "" "0" "" "" "" "" "00072432" "" "" "" "3" "" "01713" "" "1 family 1 affected; 2 isolated cases" "" "" "Spain; United States" "" "0" "" "" "" "" "00072433" "" "" "" "5" "" "01713" "" "2 families 4 affected; 4 isolated cases" "" "" "Germany;Poland;France;United States" "" "0" "" "" "" "" "00072434" "" "" "" "4" "" "01713" "" "OMIM185470:0002; 4 families 10 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072435" "" "" "" "4" "" "01713" "" "OMIM185470:0003; 1 family 1 affected; 3 isolated cases" "" "" "France; United Kingdom (Great Britain); United States" "" "0" "" "" "" "" "00072436" "" "" "" "2" "" "01648" "" "1 family 2 affected" "" "" "Spain; Portugal" "" "0" "" "" "" "" "00072437" "" "" "" "6" "" "01713" "" "2 families 4 affected; 4 isolated cases" "" "" "Canada; United States" "" "0" "" "" "" "" "00072438" "" "" "" "4" "" "01713" "" "1 family 1 affected; 3 isolated cases" "" "" "France" "" "0" "" "" "" "" "00072439" "" "" "" "1" "" "01713" "" "2 families 7 affected" "" "" "United States" "" "0" "" "" "" "" "00072440" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "United States" "" "0" "" "" "" "" "00072441" "" "" "" "0" "" "01713" "" "maternal uncle metastatic PGL, mother,sister and two uncles, carriers and asymptomatic; 1 family 6 affected" "" "" "Spain" "" "0" "" "" "" "" "00072442" "" "" "" "3" "" "01713" "" "1 family 2 affected; 2 isolated cases" "M" "" "Germany; United States" "" "0" "" "" "" "" "00072443" "" "" "" "1" "" "01713" "" "1 family 2 affected" "" "" "Netherlands" "" "0" "" "" "" "" "00072444" "" "" "" "1" "" "01644" "" "1 family 2 affected" "" "" "Serbia" "" "0" "" "" "" "" "00072445" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072446" "" "" "" "1" "" "01643" "" "1 isolated case" "" "" "Serbia" "" "0" "" "" "" "" "00072447" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "United States" "" "0" "" "" "" "" "00072448" "" "" "" "4" "" "01713" "" "4 isolated cases" "" "" "France; United States" "" "0" "" "" "" "" "00072449" "" "" "" "4" "" "01713" "" "4 isolated cases" "" "" "France; Belgium; Spain" "" "0" "" "" "" "" "00072450" "" "" "" "2" "" "01713" "" "1 family 2 affected" "" "" "Spain; Portugal" "" "0" "" "" "" "" "00072451" "" "" "" "1" "" "01713" "" "1 family 1 affected; 1 isolated case" "" "" "France" "" "0" "" "" "" "" "00072452" "" "" "" "3" "" "01713" "" "OMIM185470:0005; 2 families 5 affected; 2 isolated cases" "" "" "Germany;Poland" "" "0" "" "" "" "" "00072453" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "France" "" "0" "" "" "" "" "00072454" "" "" "" "1" "" "01713" "" "2 families 2 affected" "" "" "France" "" "0" "" "" "" "" "00072455" "" "" "" "10" "" "01713" "" "OMIM185470:0004; 2 families 10 affected; 6 isolated cases" "" "" "United States; Germany;Poland; United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072456" "" "" "" "2" "" "01713" "" "2 isolated cases" "" "" "Germany;Poland" "" "0" "" "" "" "" "00072457" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "France" "" "0" "" "" "" "" "00072458" "" "" "" "1" "" "01713" "" "1 family 1 affected; 1 isolated case" "" "" "Australia" "" "0" "" "" "" "" "00072459" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Germany" "" "0" "" "" "" "" "00072546" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "France" "" "0" "" "" "" "" "00072547" "" "" "" "6" "" "01713" "" "" "" "" "" "" "0" "" "" "" "" "00072548" "" "" "" "1" "" "01713" "" "" "" "" "Pakistan" "" "0" "" "" "" "" "00072549" "" "" "" "1" "" "01713" "" "1 family 2 affected" "F" "" "Netherlands" "" "0" "" "" "" "" "00072550" "" "" "" "1" "" "01713" "" "1 family 2 affected; 1 isolated case" "" "" "Australia" "" "0" "" "" "" "" "00072551" "" "" "" "1" "" "01713" "" "1 family 1 affected; 1 isolated case" "" "" "Australia" "" "0" "" "" "" "" "00072552" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "United States" "" "0" "" "" "" "" "00072553" "" "" "" "1" "" "01713" "" "2 families ed affected" "" "" "Italy" "" "0" "" "" "" "" "00072556" "" "" "" "6" "" "01713" "" "" "" "" "Spain; Netherlands;Italy; Belgium" "" "0" "" "" "" "" "00072557" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Netherlands" "" "0" "" "" "" "" "00072560" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "" "" "0" "" "" "" "" "00072565" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "France" "" "0" "" "" "" "" "00072735" "" "" "" "1" "" "01043" "" "1 isolated case" "" "" "Netherlands" "" "0" "" "" "" "" "00072736" "" "" "" "1" "" "01649" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00072737" "" "" "" "1" "" "01649" "" "" "" "" "" "" "0" "" "" "" "" "00072738" "" "" "" "2" "" "01646" "" "2 isolated cases" "" "" "Italy" "" "0" "" "" "" "" "00072740" "" "" "" "3" "" "01043" "" "also germline variant in VHL (R135P)" "" "" "" "" "0" "" "" "" "" "00072741" "" "" "" "3" "" "01043" "" "" "" "" "" "" "0" "" "" "" "" "00072742" "" "" "" "2" "" "01713" "" "2 isolated cases" "" "" "(United States)" "" "0" "" "" "Chinese" "" "00072746" "" "" "" "2" "" "01645" "" "malignant, young age (27); right paraaortic PGL (age 26); 2 isolated cases" "" "" "Japan" "" "0" "" "" "" "" "00072751" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "United States" "" "0" "" "" "" "" "00072752" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "United States" "" "0" "" "" "" "" "00072753" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "United States" "" "0" "" "" "" "" "00072754" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "United States" "" "0" "" "" "" "" "00072757" "" "" "" "1" "" "01650" "" "1 isolated case" "" "" "Canada" "" "0" "" "" "" "" "00072761" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Belgium" "" "0" "" "" "" "" "00072762" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Belgium" "" "0" "" "" "" "" "00072764" "" "" "" "1" "" "01645" "" "" "" "" "Japan" "" "0" "" "" "" "" "00072769" "" "" "" "1" "" "01713" "" "Found in Cowden Syndrome; 1 isolated case" "" "" "United States; France" "" "0" "" "" "" "" "00072773" "" "" "" "2" "" "01713" "" "1 family 2 affected; 6 isolated cases" "" "" "France" "" "0" "" "" "" "" "00072774" "" "" "" "1" "" "01713" "" "2 isolated cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072776" "" "" "" "1" "" "01653" "" "5 SDHB heterozygotes in this family have remained clinically asymptomatic to at least age 68y. The index case is the only affected individual with extra-adrenal pheo at age 37." "" "" "Netherlands; United States; Canada" "" "0" "" "" "" "" "00072777" "" "" "" "1" "" "01654" "" "1 family" "" "" "Italy" "" "0" "" "" "" "" "00072778" "" "" "" "1" "" "01654" "" "1 family 10 affected; 1 isolated case" "" "" "Italy" "" "0" "" "" "" "" "00072779" "" "" "" "1" "" "01654" "" "1 family 4 affected" "" "" "Italy" "" "0" "" "" "" "" "00072780" "" "" "" "1" "" "01654" "" "1 family 2 affected" "" "" "Italy" "" "0" "" "" "" "" "00072781" "" "" "" "1" "" "01654" "" "1 family" "" "" "Italy" "" "0" "" "" "" "" "00072782" "" "" "" "1" "" "01043" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00072784" "" "" "" "1" "" "01713" "" "1 family 8 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072787" "" "" "" "1" "" "01713" "" "Very rare polymorphism?; 1 isolated case" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072788" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "France" "" "0" "" "" "" "" "00072790" "" "" "" "1" "" "01713" "" "" "" "" "Australia" "" "0" "" "" "" "" "00072791" "" "" "" "1" "" "01713" "" "" "" "" "Australia" "" "0" "" "" "" "" "00072792" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Spain" "" "0" "" "" "" "" "00072793" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Spain" "" "0" "" "" "" "" "00072794" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Spain" "" "0" "" "" "" "" "00072800" "" "" "" "1" "" "01645" "" "" "" "" "Japan" "" "0" "" "" "" "" "00072801" "" "" "" "1" "" "01652" "" "" "" "" "Japan" "" "0" "" "" "" "" "00072803" "" "" "" "1" "" "01648" "" "1 family 3 affected" "" "" "Portugal" "" "0" "" "" "" "" "00072804" "" "" "" "0" "" "01655" "" "1 isolated case" "" "" "China" "" "0" "" "" "" "" "00072805" "" "" "" "1" "" "01655" "" "1 family 4 affected; 1 isolated case" "" "" "China" "" "0" "" "" "" "" "00072811" "" "" "" "0" "" "01655" "" "1 family" "" "" "China" "" "0" "" "" "" "" "00072812" "" "" "" "2" "" "01713" "" "2 isolated cases" "" "" "Germany; Italy" "" "0" "" "" "" "" "00072813" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Germany" "" "0" "" "" "" "" "00072814" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Germany" "" "0" "" "" "" "" "00072815" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Germany" "" "0" "" "" "" "" "00072816" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Germany" "" "0" "" "" "" "" "00072817" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Germany" "" "0" "" "" "" "" "00072818" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "" "" "0" "" "" "" "" "00072819" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Germany" "" "0" "" "" "" "" "00072820" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "" "" "0" "" "" "" "" "00072821" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Germany" "" "0" "" "" "" "" "00072822" "" "" "" "1" "" "01713" "" "2 families 2 affected" "" "" "Germany" "" "0" "" "" "" "" "00072823" "" "" "" "1" "" "01713" "" "2 families 2 affected" "" "" "" "" "0" "" "" "" "" "00072827" "" "" "" "0" "" "01655" "" "" "" "" "China" "" "0" "" "" "" "" "00072828" "" "" "" "0" "" "01655" "" "" "" "" "China" "" "0" "" "" "" "" "00072842" "" "" "" "1" "" "01713" "" "2 families 2 affected; 2 isolated cases" "" "" "Germany; United States" "" "0" "" "" "" "" "00072843" "" "" "" "1" "" "01713" "" "2 families 2 affected" "" "" "Germany" "" "0" "" "" "" "" "00072844" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "" "" "0" "" "" "" "" "00072845" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Germany" "" "0" "" "" "" "" "00072846" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Germany" "" "0" "" "" "" "" "00072869" "" "" "" "0" "" "01713" "" "OMIM185470:0001; 2 families 3 affected" "" "" "" "" "0" "" "" "" "" "00072870" "" "" "" "0" "" "01713" "" "OMIM185470:0003; 2 families 2 affected" "" "" "" "" "0" "" "" "" "" "00072871" "" "" "" "0" "" "01713" "" "1 family 1 affected" "" "" "" "" "0" "" "" "" "" "00072872" "" "" "" "0" "" "01713" "" "1 family 1 affected" "" "" "France" "" "0" "" "" "" "" "00072873" "" "" "" "0" "" "01713" "" "1 family 1 affected" "" "" "" "" "0" "" "" "" "" "00072874" "" "" "" "0" "" "01713" "" "2 families 2 affected" "" "" "" "" "0" "" "" "" "" "00072875" "" "" "" "0" "" "01713" "" "2 families 2 affected" "" "" "" "" "0" "" "" "" "" "00072876" "" "" "" "2" "" "01713" "" "1 family 1 affected; 1 isolated case" "" "" "" "" "0" "" "" "" "" "00072877" "" "" "" "2" "" "01713" "" "4 families 4 affected; 1 isolated case" "" "" "" "" "0" "" "" "" "" "00072878" "" "" "" "0" "" "01713" "" "1 family 2 affected" "" "" "" "" "0" "" "" "" "" "00072879" "" "" "" "0" "" "01713" "" "1 family 1 affected" "" "" "" "" "0" "" "" "" "" "00072880" "" "" "" "0" "" "01713" "" "" "" "" "" "" "0" "" "" "" "" "00072881" "" "" "" "0" "" "01713" "" "1 family 1 affected" "" "" "" "" "0" "" "" "" "" "00072882" "" "" "" "0" "" "01713" "" "3 families 5 affected" "" "" "" "" "0" "" "" "" "" "00072883" "" "" "" "0" "" "01713" "" "2 families 3 affected" "" "" "" "" "0" "" "" "" "" "00072884" "" "" "" "0" "" "01713" "" "1 family 1 affected" "" "" "" "" "0" "" "" "" "" "00072885" "" "" "" "0" "" "01713" "" "2 families 2 affected" "" "" "France; United States" "" "0" "" "" "" "" "00072886" "" "" "" "0" "" "01713" "" "4 families 5 affected" "" "" "" "" "0" "" "" "" "" "00072887" "" "" "" "0" "" "01713" "" "2 families 2 affected" "" "" "" "" "0" "" "" "" "" "00072888" "" "" "" "0" "" "01713" "" "2 families 3 affected" "" "" "" "" "0" "" "" "" "" "00072889" "" "" "" "0" "" "01713" "" "" "" "" "" "" "0" "" "" "" "" "00072890" "" "" "" "0" "" "01713" "" "2 families 2 affected" "" "" "" "" "0" "" "" "" "" "00072891" "" "" "" "0" "" "01713" "" "3 families 3 affected" "" "" "" "" "0" "" "" "" "" "00072892" "" "" "" "0" "" "01713" "" "1 family 1 affected" "" "" "" "" "0" "" "" "" "" "00072893" "" "" "" "0" "" "01713" "" "1 family 2 affected" "" "" "" "" "0" "" "" "" "" "00072894" "" "" "" "0" "" "01713" "" "4 families 6 affected" "" "" "" "" "0" "" "" "" "" "00072895" "" "" "" "0" "" "01713" "" "1 family 1 affected" "" "" "" "" "0" "" "" "" "" "00072896" "" "" "" "0" "" "01713" "" "1 family 1 affected" "" "" "" "" "0" "" "" "" "" "00072897" "" "" "" "0" "" "01713" "" "1 family 1 affected" "" "" "" "" "0" "" "" "" "" "00072898" "" "" "" "0" "" "01713" "" "1 family 1 affected" "" "" "" "" "0" "" "" "" "" "00072899" "" "" "" "0" "" "01713" "" "4 families 5 affected" "" "" "" "" "0" "" "" "" "" "00072900" "" "" "" "0" "" "01713" "" "1 family 2 affected" "" "" "" "" "0" "" "" "" "" "00072901" "" "" "" "0" "" "01713" "" "" "" "" "" "" "0" "" "" "" "" "00072902" "" "" "" "0" "" "01713" "" "4 families 5 affected" "" "" "France" "" "0" "" "" "" "" "00072903" "" "" "" "0" "" "01713" "" "1 family 1 affected" "" "" "" "" "0" "" "" "" "" "00072904" "" "" "" "0" "" "01713" "" "1 family 1 affected" "" "" "" "" "0" "" "" "" "" "00072905" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "" "" "0" "" "" "" "" "00072906" "" "" "" "0" "" "01713" "" "1 family 1 affected" "" "" "France" "" "0" "" "" "" "" "00072907" "" "" "" "0" "" "01713" "" "1 family 1 affected" "" "" "France" "" "0" "" "" "" "" "00072908" "" "" "" "0" "" "01713" "" "1 family 1 affected" "" "" "France" "" "0" "" "" "" "" "00072909" "" "" "" "0" "" "01713" "" "1 family 1 affected" "" "" "France" "" "0" "" "" "" "" "00072910" "" "" "" "0" "" "01713" "" "2 families 3 affected" "" "" "France" "" "0" "" "" "" "" "00072911" "" "" "" "0" "" "01713" "" "2 families 3 affected" "" "" "France" "" "0" "" "" "" "" "00072912" "" "" "" "0" "" "01713" "" "1 family 1 affected" "" "" "France" "" "0" "" "" "" "" "00072913" "" "" "" "0" "" "01713" "" "" "" "" "France" "" "0" "" "" "" "" "00072914" "" "" "" "0" "" "01713" "" "1 family 1 affected" "" "" "France" "" "0" "" "" "" "" "00072915" "" "" "" "0" "" "01713" "" "1 family 1 affected" "" "" "France" "" "0" "" "" "" "" "00072916" "" "" "" "0" "" "01713" "" "1 family 1 affected" "" "" "France" "" "0" "" "" "" "" "00072917" "" "" "" "0" "" "01713" "" "1 family 1 affected" "" "" "France" "" "0" "" "" "" "" "00072918" "" "" "" "0" "" "01713" "" "2 families 2 affected" "" "" "France" "" "0" "" "" "" "" "00072919" "" "" "" "0" "" "01713" "" "1 family 1 affected" "" "" "France" "" "0" "" "" "" "" "00072920" "" "" "" "0" "" "01713" "" "" "" "" "" "" "0" "" "" "" "" "00072921" "" "" "" "0" "" "01713" "" "1 family 1 affected" "" "" "France" "" "0" "" "" "" "" "00072922" "" "" "" "0" "" "01713" "" "1 family 1 affected" "" "" "France" "" "0" "" "" "" "" "00072923" "" "" "" "0" "" "01713" "" "1 family 1 affected" "" "" "France" "" "0" "" "" "" "" "00072924" "" "" "" "0" "" "01713" "" "1 family 1 affected" "" "" "France" "" "0" "" "" "" "" "00072925" "" "" "" "0" "" "01713" "" "" "" "" "" "" "0" "" "" "" "" "00072927" "" "" "" "1" "" "01713" "" "9 families 9 affected" "" "" "" "" "0" "" "" "Dutch" "" "00072932" "" "" "" "1" "" "01713" "" "1 family 2 affected" "" "" "" "" "0" "" "" "" "" "00072933" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "Spain" "" "0" "" "" "" "" "00072936" "" "" "" "1" "" "01645" "" "" "" "" "Japan" "" "0" "" "" "" "" "00072941" "" "" "" "0" "" "01655" "" "" "" "" "China" "" "0" "" "" "" "" "00072943" "" "" "" "1" "" "01645" "" "" "" "" "Japan" "" "0" "" "" "" "" "00072945" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "Spain" "" "0" "" "" "" "" "00072949" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Japan" "" "0" "" "" "" "" "00072950" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "United States" "" "0" "" "" "" "" "00072952" "" "" "" "1" "" "01713" "" "1 family 5 affected" "" "" "Czech Republic" "" "0" "" "" "" "" "00072953" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072954" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072955" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072956" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072957" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072958" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072959" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072960" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072961" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072962" "" "" "" "2" "" "01713" "" "SNP; 2 isolated cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072968" "" "" "" "1" "" "01713" "" "" "" "" "" "" "0" "" "" "" "" "00072969" "" "" "" "1" "" "01713" "" "" "" "" "" "" "0" "" "" "" "" "00072981" "" "" "" "1" "" "01713" "" "1 family 2 affected" "" "" "Korea" "" "0" "" "" "" "" "00072982" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "United States" "" "0" "" "" "" "" "00072983" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "United States" "" "0" "" "" "" "" "00072984" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Japan" "" "0" "" "" "" "" "00073048" "" "" "" "0" "" "01657" "" "1 family 4 affected" "" "" "" "" "0" "" "" "" "" "00073049" "" "" "" "1" "" "01657" "" "" "" "" "" "" "0" "" "" "" "" "00073050" "" "" "" "0" "" "01657" "" "1 family 2 affected" "" "" "" "" "0" "" "" "" "" "00073057" "" "" "" "1" "" "01658" "" "" "" "" "" "" "0" "" "" "" "" "00073074" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "United States" "" "0" "" "" "" "" "00073075" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "United States" "" "0" "" "" "" "" "00073076" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "United States" "" "0" "" "" "" "" "00073079" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Australia" "" "0" "" "" "" "" "00073080" "" "" "" "1" "" "01713" "" "1 family 2 affected" "" "" "Australia" "" "0" "" "" "" "" "00073081" "" "" "" "1" "" "01713" "" "1 family 2 affected" "" "" "Australia" "" "0" "" "" "" "" "00073082" "" "" "" "1" "" "01713" "" "1 family 3 affected" "" "" "Australia" "" "0" "" "" "" "" "00073083" "" "" "" "1" "" "01713" "" "1 family 3 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073087" "" "" "" "1" "" "01713" "" "1 family 2 affected" "" "" "United States" "" "0" "" "" "" "" "00073089" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "France" "" "0" "" "" "" "" "00073090" "" "" "" "1" "" "01713" "" "1 family 2 affected" "" "" "Italy; Portugal" "" "0" "" "" "" "" "00073095" "" "" "" "1" "" "01661" "" "No other family history PGL; 1 isolated case" "" "" "" "" "0" "" "" "" "" "00073101" "" "" "" "1" "" "01664" "" "" "" "" "" "" "0" "" "" "" "" "00073102" "" "" "" "1" "" "01664" "" "" "" "" "" "" "0" "" "" "" "" "00073103" "" "" "" "1" "" "01664" "" "1 isolated case" "" "" "" "" "0" "" "" "" "" "00073104" "" "" "" "1" "" "01664" "" "1 isolated case" "" "" "" "" "0" "" "" "" "" "00079374" "" "" "" "1" "" "01713" "{PMID:Alston:22972948}" "Asian parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00079379" "" "" "" "2" "" "01713" "{PMID:Casey:24712571}, {PMID:Rattenberry:23666964}" "1 families 1 affected; Ireland, Extraadrenal (paraaorta), UK" "" "" "Ireland; United Kingdom (Great Britain)" "" "0" "" "" "" "" "00079381" "" "" "" "4" "" "01713" "{PMID:Casey:24712571}, {PMID:Jasperson:23934599}, {PMID:Papathomas:24096523}, {PMID:Gill:24150194}" "Ireland, Extraadrenal (retropubic)" "" "" "Ireland; United States" "" "0" "" "" "" "" "00079389" "" "" "" "1" "" "01713" "{PMID:von Dobschuetz:25595276}" "" "" "" "" "" "0" "" "" "" "" "00079390" "" "" "" "1" "" "01713" "{PMID:von Dobschuetz:25595276}" "" "" "" "" "" "0" "" "" "" "" "00079403" "" "" "" "1" "" "01713" "{PMID:Iacobone:22136840}" "Malignant PGL" "" "" "Italy" "" "0" "" "" "" "" "00079404" "" "" "" "2" "" "01713" "{PMID:Jafri:23072324}, {PMID:Miettinen:23282968}" "SDHA positive GIST; \"\"PCR based mutation scanning\"\"" "" "" "United Kingdom (Great Britain);United States" "" "0" "" "" "" "" "00079405" "" "" "" "1" "" "01713" "{PMID:Jafri:23072324}" "PCR based mutation scanning" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00079406" "" "" "" "1" "" "01713" "{PMID:Kim:24134185}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00079410" "" "" "" "1" "" "01713" "{PMID:Lefebvre:22517554}" "" "" "" "France" "" "0" "" "" "" "" "00079411" "" "" "" "1" "" "01713" "{PMID:Lefebvre:22517554}" "" "" "" "France" "" "0" "" "" "" "" "00079416" "" "" "" "1" "" "01713" "{PMID:Lefebvre:22517554}" "" "" "" "France" "" "0" "" "" "" "" "00079418" "" "" "" "1" "" "01713" "{PMID:Lefebvre:22517554}" "" "" "" "France" "" "0" "" "" "" "" "00079419" "" "" "" "1" "" "01713" "{PMID:Lefebvre:22517554}" "" "" "" "France" "" "0" "" "" "" "" "00079423" "" "" "" "1" "" "01713" "{PMID:Miettinen:23282968}" "SDHA-positive GIST" "" "" "United States" "" "0" "" "" "" "" "00079432" "" "" "" "1" "" "01713" "{PMID:Muth:22270996}" "Diagnosed at 25 years" "" "" "Sweden" "" "0" "" "" "" "" "00079435" "" "" "" "1" "" "01713" "{PMID:Pantaleo:23612575}" "" "" "" "Italy" "" "0" "" "" "" "" "00079438" "" "" "" "1" "" "01713" "{PMID:Persu:22566194}" "" "" "" "Belgium" "" "0" "" "" "" "" "00079440" "" "" "" "1" "" "01713" "{PMID:Persu:22566194}" "" "" "" "Belgium" "" "0" "" "" "" "" "00079446" "" "" "" "1" "" "01713" "{PMID:Rattenberry:23666964}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00079448" "" "" "" "1" "" "01713" "{PMID:Rattenberry:23666964}, {PMID:Dénes:25494863}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00079449" "" "" "" "1" "" "01713" "{PMID:Rattenberry:23666964}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00079468" "" "" "" "1" "" "01713" "{PMID:Buffet:22517557}" "" "" "" "France" "" "0" "" "" "" "" "00079469" "" "" "" "1" "" "01713" "{PMID:Buffet:22517557}" "" "" "" "France" "" "0" "" "" "" "" "00079470" "" "" "" "1" "" "01713" "{PMID:Buffet:22517557}" "" "" "" "France" "" "0" "" "" "" "" "00079471" "" "" "" "1" "" "01713" "{PMID:Burnichon:20923864}" "SDHB positive staining" "" "" "France" "" "0" "" "" "" "" "00079472" "" "" "" "1" "" "01713" "{PMID:Kimura:24659481}" "" "" "" "Japan" "" "0" "" "" "" "" "00079473" "" "" "" "1" "" "01713" "{PMID:Dénes:25494863}" "" "" "" "" "" "0" "" "" "" "" "00079474" "" "" "" "1" "" "01713" "{PMID:Buffet:22517557}" "negative SDHB immunohistochemistry" "" "" "France" "" "0" "" "" "" "" "00079475" "" "" "" "1" "" "01713" "{PMID:Buffet:22517557}" "" "" "" "France" "" "0" "" "" "" "" "00079476" "" "" "" "1" "" "01713" "{PMID:Buffet:22517557}" "" "" "" "France" "" "0" "" "" "" "" "00079477" "" "" "" "1" "" "01713" "{PMID:Buffet:22517557}" "" "" "" "France" "" "0" "" "" "" "" "00079478" "" "" "" "1" "" "01713" "{PMID:Buffet:22517557}" "" "" "" "France" "" "0" "" "" "" "" "00079479" "" "" "" "1" "" "01713" "{PMID:Buffet:22517557}" "negative SDHB immunohistochemistry" "" "" "France" "" "0" "" "" "" "" "00079480" "" "" "" "1" "" "01713" "{PMID:Buffet:22517557}" "" "" "" "France" "" "0" "" "" "" "" "00079481" "" "" "" "1" "" "01713" "{PMID:Buffet:22517557}" "" "" "" "France" "" "0" "" "" "" "" "00079482" "" "" "" "1" "" "01713" "{PMID:Buffet:22517557}" "negative SDHB immunohistochemistry" "" "" "France" "" "0" "" "" "" "" "00079483" "" "" "" "1" "" "01713" "{PMID:Buffet:22517557}" "LOH at SDHB locus in tumor DNA" "" "" "France" "" "0" "" "" "" "" "00079484" "" "" "" "1" "" "01713" "{PMID:Kimura:24659481}" "" "" "" "Japan" "" "0" "" "" "" "" "00079485" "" "" "" "1" "" "01713" "{PMID:Lefebvre:22517554}" "" "" "" "France" "" "0" "" "" "" "" "00079486" "" "" "" "1" "" "01713" "{PMID:Weber:22573489}" "" "" "" "Germany; Switzerland; Sweden" "" "0" "" "" "" "" "00079487" "" "" "" "1" "" "01713" "{PMID:Dénes:25494863}" "" "" "" "" "" "0" "" "" "" "" "00079488" "" "" "" "1" "" "01713" "{PMID:Buffet:22517557}" "" "" "" "France" "" "0" "" "" "" "" "00079518" "" "" "" "1" "" "01713" "" "2 families 4 affected" "" "" "Portugal; Germany; Switzerland" "" "0" "" "" "" "" "00080775" "" "" "" "1" "" "01713" "" "SDHB-deficient GIST, recurrent, metastatic" "" "" "United States" "" "0" "" "" "North-West" "" "00089120" "" "" "" "1" "" "01713" "{PMID:Ardisonne 2015:26925370}, {PMID:Legati 2016:26968897}" "Severe hypotonia and psychomotor regression with leukoencephalopathy" "F" "yes" "Pakistan" "" "0" "" "" "Pakistani" "patient" "00090171" "" "" "" "1" "" "01713" "{PMID:Hoekstra:27485256}" "Gene deletion study Hoekstra et al." "M" "?" "Germany" "" "0" "" "" "white" "" "00090181" "" "" "" "1" "" "01713" "{PMID:Hoekstra:27485256}" "Adrenal pheocromocytoma" "F" "?" "Germany" "" "0" "" "" "white" "" "00090182" "" "" "" "1" "" "01713" "{PMID:Hoekstra:27485256}" "Jugular PGL" "M" "-" "Germany" "" "0" "" "" "white" "" "00092279" "" "" "" "1" "" "01713" "{PMID:Boikos:4929866}" "Carney triad, the association of paragangliomas/pheochromocytomas, gastrointestinal stromal tumors and pulmonary chondromas" "M" "" "United States" "" "0" "" "" "" "" "00095915" "" "" "" "1" "" "01713" "{PMID:Bennedbaek:27279923}" "Denmark" "?" "?" "Denmark" "" "0" "" "" "" "" "00100332" "" "" "" "4" "" "01899" "{PMID:Hernandez 2015:25800244}, {DOI:Hernandez 2015:10.1007/s00428-015-1755-2}" "2-generation family, affected mother and 3 heterozygous carrier sons" "F" "?" "Canada" "" "0" "" "left adrenalectomy and partial nephrectomy" "" "25800244-FamProband" "00146445" "" "" "" "1" "" "02355" "" "" "F" "yes" "Argentina" "" "0" "" "" "" "" "00207802" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00246549" "" "" "" "1" "" "00643" "{PMID:Fostira 2020:31300551}" "" "" "" "Greece" "" "0" "" "" "" "" "00263966" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00266486" "" "" "" "1" "" "02355" "" "" "" "" "Argentina" "" "0" "" "" "" "" "00266488" "" "" "" "1" "" "02355" "" "" "" "" "Argentina" "" "0" "" "" "" "" "00266491" "" "" "" "1" "" "02355" "" "" "" "" "Argentina" "" "0" "" "" "" "" "00266499" "" "" "" "1" "" "02355" "" "" "" "" "Argentina" "" "0" "" "" "" "" "00266500" "" "" "" "1" "" "02355" "" "" "" "" "Argentina" "" "0" "" "" "" "" "00266504" "" "" "" "1" "" "02355" "" "" "" "" "Argentina" "" "0" "" "" "" "" "00266505" "" "" "" "1" "" "02355" "" "" "" "" "Argentina" "" "0" "" "" "" "" "00266506" "" "" "" "1" "" "02355" "" "" "" "" "Argentina" "" "0" "" "" "" "" "00266509" "" "" "" "1" "" "02355" "" "" "" "" "Argentina" "" "0" "" "" "" "" "00289598" "" "" "" "91" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289599" "" "" "" "38" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295749" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00304164" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304165" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307262" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "" "Brazil" "" "" "" "" "" "Patient 86" "00396800" "" "" "" "1" "" "00006" "{PMID:Kim 2021:33219105}" "" "" "" "Korea" "" "0" "" "" "" "" "00396827" "" "" "" "1" "" "00006" "{PMID:Kim 2021:33219105}" "" "" "" "Korea" "" "0" "" "" "" "" "00396828" "" "" "" "1" "" "00006" "{PMID:Kim 2021:33219105}" "" "" "" "Korea" "" "0" "" "" "" "" "00396829" "" "" "" "1" "" "00006" "{PMID:Kim 2021:33219105}" "" "" "" "Korea" "" "0" "" "" "" "" "00396830" "" "" "" "1" "" "00006" "{PMID:Kim 2021:33219105}" "" "" "" "Korea" "" "0" "" "" "" "" "00396831" "" "" "" "1" "" "00006" "{PMID:Kim 2021:33219105}" "" "" "" "Korea" "" "0" "" "" "" "" "00430486" "" "" "" "1" "" "01713" "{PMID: 31492822}" "Affected at 76" "M" "?" "Germany" "" "0" "" "" "" "nvt" "00430902" "" "" "" "1" "" "01713" "{PMID: Bayley: 31492822}" "Age 12" "F" "?" "Germany" "" "0" "" "" "" "nvt" "00435044" "" "" "" "1" "" "01713" "PMID: 27604842" "Leukoencephalopathy due to Complex II Deficiency" "F" "yes" "Lebanon" "02y" "0" "" "" "" "Pat1" "00443722" "" "" "" "1" "" "04599" "" "" "F" "" "Mexico" "" "" "" "" "Mexican" "UCDMX028" "00448538" "" "" "" "1" "" "01468" "" "" "" "" "" "" "" "" "" "" "01468" "00457374" "" "" "" "1" "" "04749" "Yuen (unpublished)" "" "F" "" "Singapore" "" "0" "" "" "China" "MINAS_20" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 366 "{{individualid}}" "{{diseaseid}}" "00037001" "00198" "00037004" "00198" "00037005" "05085" "00037007" "00198" "00072362" "05085" "00072363" "05085" "00072364" "05085" "00072365" "05085" "00072366" "05085" "00072367" "00000" "00072368" "05085" "00072369" "05085" "00072370" "00000" "00072371" "05085" "00072371" "05093" "00072372" "00000" "00072373" "00000" "00072374" "05085" "00072375" "05085" "00072376" "05085" "00072376" "05093" "00072377" "05085" "00072378" "05085" "00072379" "05085" "00072380" "05085" "00072381" "05085" "00072382" "05085" "00072383" "05085" "00072383" "05093" "00072384" "05085" "00072385" "05085" "00072385" "05093" "00072386" "05085" "00072387" "05085" "00072388" "01503" "00072389" "05085" "00072390" "05085" "00072391" "05085" "00072392" "00000" "00072393" "00000" "00072394" "00000" "00072395" "05085" "00072396" "05085" "00072397" "05085" "00072398" "05085" "00072399" "05085" "00072400" "05085" "00072401" "05085" "00072402" "05085" "00072403" "05085" "00072404" "05085" "00072405" "05085" "00072406" "01503" "00072407" "05085" "00072408" "05085" "00072409" "05085" "00072410" "05085" "00072411" "05085" "00072412" "05085" "00072413" "05085" "00072414" "05085" "00072415" "05085" "00072416" "05085" "00072417" "05085" "00072418" "05085" "00072419" "00000" "00072420" "05085" "00072421" "05085" "00072421" "05093" "00072422" "05085" "00072423" "05085" "00072424" "05085" "00072425" "05085" "00072426" "05085" "00072427" "05085" "00072428" "05085" "00072429" "05085" "00072430" "05085" "00072431" "01503" "00072432" "05085" "00072433" "05085" "00072434" "05085" "00072435" "05085" "00072436" "05085" "00072437" "05085" "00072438" "05085" "00072439" "01503" "00072440" "05085" "00072441" "05085" "00072442" "05085" "00072443" "05085" "00072444" "05085" "00072445" "05085" "00072446" "01503" "00072447" "05085" "00072448" "05085" "00072449" "05085" "00072450" "05085" "00072451" "05085" "00072452" "05085" "00072452" "05093" "00072453" "05085" "00072454" "05085" "00072455" "05085" "00072456" "05085" "00072457" "05085" "00072458" "05085" "00072459" "05085" "00072546" "05085" "00072547" "05085" "00072548" "05085" "00072549" "05085" "00072550" "05085" "00072551" "05085" "00072552" "05085" "00072553" "05085" "00072556" "00198" "00072557" "05085" "00072560" "05093" "00072565" "00198" "00072735" "05085" "00072736" "01503" "00072737" "01503" "00072738" "05085" "00072740" "05085" "00072741" "00198" "00072742" "05085" "00072746" "05085" "00072751" "05085" "00072752" "05085" "00072753" "05085" "00072754" "05085" "00072757" "05085" "00072761" "05085" "00072762" "00198" "00072764" "05085" "00072769" "00198" "00072773" "05085" "00072774" "05085" "00072776" "01503" "00072777" "05085" "00072778" "01503" "00072779" "01503" "00072780" "05085" "00072781" "01503" "00072782" "00198" "00072784" "05085" "00072787" "05093" "00072788" "05085" "00072790" "00198" "00072791" "00198" "00072792" "01503" "00072793" "01503" "00072794" "05085" "00072800" "05085" "00072801" "05085" "00072803" "05085" "00072804" "05085" "00072805" "05085" "00072811" "05085" "00072812" "05085" "00072813" "00198" "00072814" "00198" "00072815" "00198" "00072816" "00198" "00072817" "00198" "00072818" "00198" "00072819" "00198" "00072820" "00198" "00072821" "00198" "00072822" "00198" "00072823" "00198" "00072827" "05085" "00072828" "05085" "00072842" "05085" "00072843" "05085" "00072844" "05085" "00072845" "05085" "00072846" "05085" "00072869" "00198" "00072870" "00198" "00072871" "00198" "00072872" "00198" "00072873" "00198" "00072874" "00198" "00072875" "00198" "00072876" "00198" "00072877" "00198" "00072878" "00198" "00072879" "00198" "00072880" "00198" "00072881" "00198" "00072882" "00198" "00072883" "00198" "00072884" "00198" "00072885" "00198" "00072886" "00198" "00072887" "00198" "00072888" "00198" "00072889" "00198" "00072890" "00198" "00072891" "00198" "00072892" "00198" "00072893" "00198" "00072894" "00198" "00072895" "00198" "00072896" "00198" "00072897" "00198" "00072898" "00198" "00072899" "00198" "00072900" "00198" "00072901" "00198" "00072902" "00198" "00072903" "00198" "00072904" "00198" "00072905" "00198" "00072906" "00198" "00072907" "00198" "00072908" "00198" "00072909" "00198" "00072910" "00198" "00072911" "00198" "00072912" "00198" "00072913" "00198" "00072914" "00198" "00072915" "00198" "00072916" "00198" "00072917" "00198" "00072918" "00198" "00072919" "00198" "00072920" "00198" "00072921" "00198" "00072922" "00198" "00072923" "00198" "00072924" "00198" "00072925" "00198" "00072927" "05085" "00072932" "05085" "00072933" "05085" "00072936" "05085" "00072941" "05085" "00072943" "05085" "00072945" "05085" "00072949" "01503" "00072950" "05085" "00072952" "05085" "00072953" "00198" "00072954" "00198" "00072955" "00198" "00072956" "00198" "00072957" "00198" "00072958" "00198" "00072959" "00198" "00072960" "00198" "00072961" "00198" "00072962" "00198" "00072968" "00198" "00072969" "00198" "00072981" "05085" "00072982" "05085" "00072983" "05085" "00072984" "05085" "00073048" "05085" "00073049" "05085" "00073050" "05085" "00073057" "05085" "00073074" "00198" "00073075" "00198" "00073076" "00198" "00073079" "05093" "00073080" "05093" "00073081" "05093" "00073082" "05093" "00073083" "00198" "00073087" "05085" "00073089" "05085" "00073090" "05093" "00073095" "05085" "00073101" "05085" "00073102" "00198" "00073103" "05093" "00073104" "05085" "00079374" "00198" "00079379" "05085" "00079381" "05085" "00079381" "05093" "00079389" "05085" "00079390" "05085" "00079403" "05085" "00079404" "05085" "00079404" "05093" "00079405" "05085" "00079406" "05085" "00079410" "05085" "00079411" "05085" "00079416" "05085" "00079418" "05085" "00079419" "05085" "00079423" "05093" "00079432" "05085" "00079435" "05093" "00079438" "05085" "00079440" "05085" "00079446" "05085" "00079448" "05085" "00079449" "05085" "00079468" "05085" "00079469" "05085" "00079470" "05085" "00079471" "05085" "00079472" "05085" "00079473" "05085" "00079474" "05085" "00079475" "05085" "00079476" "05085" "00079477" "05085" "00079478" "05085" "00079479" "05085" "00079480" "05085" "00079481" "05085" "00079482" "05085" "00079483" "05085" "00079484" "05085" "00079485" "00198" "00079486" "05085" "00079487" "05085" "00079488" "05085" "00079518" "05085" "00080775" "02601" "00089120" "03407" "00090171" "01230" "00090181" "01503" "00090182" "05085" "00092279" "00999" "00095915" "00000" "00100332" "00764" "00100332" "01503" "00146445" "01230" "00246549" "00318" "00266486" "00198" "00266488" "00198" "00266491" "00198" "00266499" "00198" "00266500" "00198" "00266504" "00198" "00266505" "00198" "00266506" "00198" "00266509" "00198" "00289598" "00198" "00289599" "00198" "00295749" "00198" "00304164" "00198" "00304165" "00198" "00307262" "01544" "00396800" "05085" "00396827" "00198" "00396828" "00198" "00396829" "00198" "00396830" "00198" "00396831" "00198" "00430486" "01230" "00430902" "02544" "00435044" "03407" "00443722" "05489" "00448538" "05085" "00457374" "04296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00318, 00764, 00999, 01230, 01503, 01544, 02544, 02601, 02614, 03129, 03407, 04296, 05085, 05093, 05489 ## Count = 357 "{{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}}" "0000052032" "05085" "00072362" "01713" "Unknown" "18y" "secreting PGL-CB; renal angiolipoma" "" "" "" "" "" "" "" "" "PGL-CB" "" "" "" "0000052033" "05085" "00072363" "01713" "Unknown" "30y" "secreting retroperitoneal PGL" "" "" "" "" "" "" "" "" "PCC;PGL" "" "" "" "0000052034" "05085" "00072364" "01713" "Unknown" "14y" "secreting retroperitoneal PGL" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000052035" "05085" "00072365" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000052036" "05085" "00072366" "01713" "Unknown" "" "Malignant Pheo" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000052037" "00000" "00072367" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052038" "05085" "00072368" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-EA" "" "" "" "0000052039" "05085" "00072369" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-EA" "" "" "" "0000052040" "00000" "00072370" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052041" "05093" "00072371" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "RCC; GIST" "" "" "" "0000052042" "05085" "00072371" "01713" "Unknown" "" "Metastatic; Thoracic PGL-EA" "" "" "" "" "" "" "" "" "PCC;PGL-EA" "" "" "" "0000052043" "00000" "00072372" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052044" "00000" "00072373" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052045" "05085" "00072374" "01713" "Unknown" "" "Malignant" "" "" "" "" "" "" "" "" "PGL-EA" "" "" "" "0000052046" "05085" "00072375" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000052047" "05093" "00072376" "01713" "Unknown" "" "LOH - tumor" "" "" "" "" "" "" "" "" "RCC" "" "" "" "0000052048" "05085" "00072376" "01713" "Unknown" "" "Cardiac PGL" "" "" "" "" "" "" "" "" "PGL-PA;PGL-CB;PGL-EA;PCC;PGL" "" "" "" "0000052049" "05085" "00072377" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-EA" "" "" "" "0000052050" "05085" "00072378" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000052051" "05085" "00072379" "01713" "Unknown" "" "Metastatic; EA-PGL at 13yrs; intra-abdominal" "" "" "" "" "" "" "" "" "PGL-J;PGL-EA" "" "" "" "0000052052" "05085" "00072380" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC;PGL-EA" "" "" "" "0000052053" "05085" "00072381" "01713" "Unknown" "" "Metastatic; Malignant Pheo" "" "" "" "" "" "" "" "" "PCC;PGL-Z" "" "" "" "0000052054" "05085" "00072382" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC;PGL-EA" "" "" "" "0000052055" "05093" "00072383" "01713" "Unknown" "" "Organ of Zuckerkandl tumor" "" "" "" "" "" "" "" "" "RCC" "" "" "" "0000052056" "05085" "00072383" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-B" "" "" "" "0000052057" "05085" "00072384" "01713" "Unknown" "" "Metastatic PCC" "" "" "" "" "" "" "" "" "PGL-EA;PCC;PGL-CB;PCC-Z" "" "" "" "0000052058" "05093" "00072385" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "RCC" "" "" "" "0000052059" "05085" "00072385" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-EA;PCC" "" "" "" "0000052060" "05085" "00072386" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000052061" "05085" "00072387" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB;PCC" "" "" "" "0000052062" "01503" "00072388" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC-EA" "" "" "" "0000052063" "05085" "00072389" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000052064" "05085" "00072390" "01713" "Unknown" "" "Metastatic; Bladder PGL" "" "" "" "" "" "" "" "" "PGL-PA" "" "" "" "0000052065" "05085" "00072391" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC-EA;PCC" "" "" "" "0000052066" "00000" "00072392" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052067" "00000" "00072393" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052068" "00000" "00072394" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052069" "05085" "00072395" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000052070" "05085" "00072396" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC;PGL-B" "" "" "" "0000052071" "05085" "00072397" "01713" "Unknown" "" "Metastatic PGL" "" "" "" "" "" "" "" "" "PCC-Z;PGL-PA;PGL" "" "" "" "0000052072" "05085" "00072398" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB;PGL-J" "" "" "" "0000052073" "05085" "00072399" "01648" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000052074" "05085" "00072400" "01645" "Unknown" "39y" "Malignant; Abdominal PGL" "" "" "" "" "" "" "" "" "PGL-EA" "" "" "" "0000052075" "05085" "00072401" "01713" "Unknown" "" "Malignant" "" "" "" "" "" "" "" "" "PGL-EA" "" "" "" "0000052076" "05085" "00072402" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000052077" "05085" "00072403" "01713" "Unknown" "" "para-renal paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000052078" "05085" "00072404" "01713" "Unknown" "" "Metastatic; Malignant" "" "" "" "" "" "" "" "" "PCC-EA" "" "" "" "0000052079" "05085" "00072405" "01648" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC-EA;PGL-J" "" "" "" "0000052080" "01503" "00072406" "01713" "Unknown" "" "Metastatic" "" "" "" "" "" "" "" "" "PCC-EA" "" "" "" "0000052081" "05085" "00072407" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000052082" "05085" "00072408" "01642" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB" "" "" "" "0000052083" "05085" "00072409" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-EA" "" "" "" "0000052084" "05085" "00072410" "01713" "Unknown" "" "Metastatic" "" "" "" "" "" "" "" "" "PCC;PGL" "" "" "" "0000052085" "05085" "00072411" "01648" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000052086" "05085" "00072412" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-EA" "" "" "" "0000052087" "05085" "00072413" "01713" "Unknown" "" "Unilateral" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000052088" "05085" "00072414" "01713" "Unknown" "" "Metastatic" "" "" "" "" "" "" "" "" "PCC-EA;PGL" "" "" "" "0000052089" "05085" "00072415" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000052090" "05085" "00072416" "01713" "Unknown" "" "Thyroid PGL; maliganat PGL-EA" "" "" "" "" "" "" "" "" "PGL;PGL-EA" "" "" "" "0000052091" "05085" "00072417" "01713" "Unknown" "" "Metastatic" "" "" "" "" "" "" "" "" "PGL-EA;PCC-Z" "" "" "" "0000052092" "05085" "00072418" "01713" "Unknown" "" "Malignant; 8y girl, 13y boy (mother diagnosed at 14 years of age), male, 11 y,Malignant neuroblastoma, PC, and renal cell carcinoma" "" "" "" "" "" "" "" "" "PGL-EA" "" "" "" "0000052093" "00000" "00072419" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052094" "05085" "00072420" "01043" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB;PGL-J" "" "" "" "0000052095" "05093" "00072421" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "GIST" "" "" "" "0000052096" "05085" "00072421" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC;PGL" "" "" "" "0000052097" "05085" "00072422" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC;PGL-EA" "" "" "" "0000052098" "05085" "00072423" "01713" "Unknown" "" "Thoracic PGL-EA" "" "" "" "" "" "" "" "" "PGL-EA" "" "" "" "0000052099" "05085" "00072424" "01648" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000052100" "05085" "00072425" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC;PGL" "" "" "" "0000052101" "05085" "00072426" "01713" "Unknown" "" "Several other tumors present" "" "" "" "" "" "" "" "" "PCC-EA" "" "" "" "0000052102" "05085" "00072427" "01713" "Unknown" "" "Several other tumors present" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000052103" "05085" "00072428" "01648" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-V" "" "" "" "0000052104" "05085" "00072429" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-EA" "" "" "" "0000052105" "05085" "00072430" "01713" "Unknown" "" "Metastatic" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000052106" "01503" "00072431" "01646" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "PCC-EA" "" "" "" "0000052107" "05085" "00072432" "01713" "Unknown" "" "Recurrent PCC" "" "" "" "" "" "" "" "" "PCC;PGL" "" "" "" "0000052108" "05085" "00072433" "01713" "Unknown" "" "Malignant" "" "" "" "" "" "" "" "" "PGL-EA" "" "" "" "0000052109" "05085" "00072434" "01713" "Unknown" "" "Metastatic" "" "" "" "" "" "" "" "" "PCC;PGL-CB;PGL;PGL-EA" "" "" "" "0000052110" "05085" "00072435" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC;PGL-B" "" "" "" "0000052111" "05085" "00072436" "01648" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB" "" "" "" "0000052112" "05085" "00072437" "01713" "Unknown" "" "Metastatic; ONC" "" "" "" "" "" "" "" "" "PGL-CB;PGL-EA" "" "" "" "0000052113" "05085" "00072438" "01713" "Unknown" "" "Metastatic" "" "" "" "" "" "" "" "" "PGL-Z;PGL-EA" "" "" "" "0000052114" "01503" "00072439" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC-EA" "" "" "" "0000052115" "05085" "00072440" "01713" "Unknown" "" "Malignant" "" "" "" "" "" "" "" "" "PGL-EA" "" "" "" "0000052116" "05085" "00072441" "01713" "Unknown" "10y" "Pediatric ; Metastatic" "" "" "" "" "" "" "" "" "PCC-EA;PGL" "" "" "" "0000052117" "05085" "00072442" "01713" "Unknown" "13y" "" "" "" "" "" "" "" "" "" "PGL-CB;PGL-EA;PGL-F" "" "" "" "0000052118" "05085" "00072443" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC;PGL" "" "" "" "0000052119" "05085" "00072444" "01644" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000052120" "05085" "00072445" "01713" "Unknown" "" "Unilateral" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000052121" "01503" "00072446" "01643" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC-EA" "" "" "" "0000052122" "05085" "00072447" "01713" "Unknown" "" "Malignant" "" "" "" "" "" "" "" "" "PGL-EA" "" "" "" "0000052123" "05085" "00072448" "01713" "Unknown" "" "Metastatic" "" "" "" "" "" "" "" "" "PGL-JT;PCC" "" "" "" "0000052124" "05085" "00072449" "01713" "Unknown" "" "Malignant Pheo" "" "" "" "" "" "" "" "" "PGL-CB;PGL-EA;PGL-JT;PCC" "" "" "" "0000052125" "05085" "00072450" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB" "" "" "" "0000052126" "05085" "00072451" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC;PGL-EA" "" "" "" "0000052127" "05093" "00072452" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "RCC" "" "" "" "0000052128" "05085" "00072452" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-EA;PGL" "" "" "" "0000052129" "05085" "00072453" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000052130" "05085" "00072454" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC;PGL-EA" "" "" "" "0000052131" "05085" "00072455" "01713" "Unknown" "" "Metastatic" "" "" "" "" "" "" "" "" "PCC;PGL-F;PGL-EA" "" "" "" "0000052132" "05085" "00072456" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-EA" "" "" "" "0000052133" "05085" "00072457" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000052134" "05085" "00072458" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB" "" "" "" "0000052135" "05085" "00072459" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-F" "" "" "" "0000052225" "05085" "00072546" "01713" "Unknown" "" "Malignant Pheo" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000052226" "05085" "00072547" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB" "" "" "" "0000052227" "05085" "00072548" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB" "" "" "" "0000052228" "05085" "00072549" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB;PGL-EA;PCC" "" "" "" "0000052229" "05085" "00072550" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB" "" "" "" "0000052230" "05085" "00072551" "01713" "Unknown" "" "abdominal and thoracic PCC-EA" "" "" "" "" "" "" "" "" "PGL-CB;PGL-EA;PCC-EA" "" "" "" "0000052231" "05085" "00072552" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000052232" "05085" "00072553" "01713" "Unknown" "" "conserved aa, LOH, 2 fam, 24 carriers of which 5 affected" "" "" "" "" "" "" "" "" "PGL-EA;PCC" "" "" "" "0000052235" "00198" "00072556" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052236" "05085" "00072557" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-EA" "" "" "" "0000052239" "05093" "00072560" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "GIST" "" "" "" "0000052246" "00198" "00072565" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "GIST" "" "" "" "0000052426" "05085" "00072735" "01043" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC;PGL" "" "" "" "0000052427" "01503" "00072736" "01649" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC-EA" "" "" "" "0000052428" "01503" "00072737" "01649" "Unknown" "" "Malignant" "" "" "" "" "" "" "" "" "PCC-EA" "" "" "" "0000052429" "05085" "00072738" "01646" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB;PCC" "" "" "" "0000052431" "05085" "00072740" "01043" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000052432" "00198" "00072741" "01043" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052433" "05085" "00072742" "01713" "Unknown" "" "Recurrent Adrenal Pheo; Severe clinical phenotype affecting multiple organ systems" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000052437" "05085" "00072746" "01645" "Unknown" "" "Malignant" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000052442" "05085" "00072751" "01713" "Unknown" "" "Metastatic" "" "" "" "" "" "" "" "" "PGL-EA" "" "" "" "0000052443" "05085" "00072752" "01713" "Unknown" "" "Metastatic" "" "" "" "" "" "" "" "" "PGL-EA" "" "" "" "0000052444" "05085" "00072753" "01713" "Unknown" "" "Metastatic" "" "" "" "" "" "" "" "" "PGL-EA" "" "" "" "0000052445" "05085" "00072754" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-EA" "" "" "" "0000052448" "05085" "00072757" "01650" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-EA" "" "" "" "0000052452" "05085" "00072761" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-JT" "" "" "" "0000052453" "00198" "00072762" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052455" "05085" "00072764" "01645" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000052460" "00198" "00072769" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052464" "05085" "00072773" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000052465" "05085" "00072774" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000052467" "01503" "00072776" "01653" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC-EA" "" "" "" "0000052468" "05085" "00072777" "01654" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000052469" "01503" "00072778" "01654" "Unknown" "" "Malignant" "" "" "" "" "" "" "" "" "PCC-EA;PGL-B" "" "" "" "0000052470" "01503" "00072779" "01654" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC-EA" "" "" "" "0000052471" "05085" "00072780" "01654" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000052472" "01503" "00072781" "01654" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC-EA" "" "" "" "0000052473" "00198" "00072782" "01043" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052475" "05085" "00072784" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000052478" "05093" "00072787" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "RCC" "" "" "" "0000052479" "05085" "00072788" "01713" "Unknown" "" "bilateral Pheo" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000052481" "00198" "00072790" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052482" "00198" "00072791" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052483" "01503" "00072792" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC-EA" "" "" "" "0000052484" "01503" "00072793" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC-EA" "" "" "" "0000052485" "05085" "00072794" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000052491" "05085" "00072800" "01645" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000052492" "05085" "00072801" "01652" "Unknown" "" "Malignant" "" "" "" "" "" "" "" "" "PGL-EA" "" "" "" "0000052494" "05085" "00072803" "01648" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000052495" "05085" "00072804" "01655" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB" "" "" "" "0000052496" "05085" "00072805" "01655" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB" "" "" "" "0000052502" "05085" "00072811" "01655" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-J" "" "" "" "0000052503" "05085" "00072812" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-JT" "" "" "" "0000052504" "00198" "00072813" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052505" "00198" "00072814" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052506" "00198" "00072815" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052507" "00198" "00072816" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052508" "00198" "00072817" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052509" "00198" "00072818" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052510" "00198" "00072819" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052511" "00198" "00072820" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052512" "00198" "00072821" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052513" "00198" "00072822" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052514" "00198" "00072823" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052518" "05085" "00072827" "01655" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-J" "" "" "" "0000052519" "05085" "00072828" "01655" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-J" "" "" "" "0000052533" "05085" "00072842" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000052534" "05085" "00072843" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000052535" "05085" "00072844" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000052536" "05085" "00072845" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000052537" "05085" "00072846" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000052560" "00198" "00072869" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052561" "00198" "00072870" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052562" "00198" "00072871" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052563" "00198" "00072872" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052564" "00198" "00072873" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052565" "00198" "00072874" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052566" "00198" "00072875" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052567" "00198" "00072876" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052568" "00198" "00072877" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052569" "00198" "00072878" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052570" "00198" "00072879" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052571" "00198" "00072880" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052572" "00198" "00072881" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052573" "00198" "00072882" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052574" "00198" "00072883" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052575" "00198" "00072884" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052576" "00198" "00072885" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052577" "00198" "00072886" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052578" "00198" "00072887" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052579" "00198" "00072888" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052580" "00198" "00072889" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052581" "00198" "00072890" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052582" "00198" "00072891" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052583" "00198" "00072892" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052584" "00198" "00072893" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052585" "00198" "00072894" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052586" "00198" "00072895" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052587" "00198" "00072896" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052588" "00198" "00072897" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052589" "00198" "00072898" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052590" "00198" "00072899" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052591" "00198" "00072900" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052592" "00198" "00072901" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052593" "00198" "00072902" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052594" "00198" "00072903" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052595" "00198" "00072904" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052596" "00198" "00072905" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052597" "00198" "00072906" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052598" "00198" "00072907" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052599" "00198" "00072908" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052600" "00198" "00072909" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052601" "00198" "00072910" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052602" "00198" "00072911" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052603" "00198" "00072912" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052604" "00198" "00072913" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052605" "00198" "00072914" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052606" "00198" "00072915" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052607" "00198" "00072916" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052608" "00198" "00072917" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052609" "00198" "00072918" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052610" "00198" "00072919" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052611" "00198" "00072920" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052612" "00198" "00072921" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052613" "00198" "00072922" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052614" "00198" "00072923" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052615" "00198" "00072924" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052616" "00198" "00072925" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052618" "05085" "00072927" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN;PCC" "" "" "" "0000052623" "05085" "00072932" "01713" "Unknown" "" "composite paraganglioma/neuroblastoma" "" "" "" "" "" "" "" "" "PGL-EA" "" "" "" "0000052624" "05085" "00072933" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-V" "" "" "" "0000052627" "05085" "00072936" "01645" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000052632" "05085" "00072941" "01655" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB" "" "" "" "0000052634" "05085" "00072943" "01645" "Unknown" "" "abdominal paraganglioma" "" "" "" "" "" "" "" "" "PGL-EA" "" "" "" "0000052636" "05085" "00072945" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-V" "" "" "" "0000052640" "01503" "00072949" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC-EA" "" "" "" "0000052641" "05085" "00072950" "01713" "Unknown" "" "Metastatic" "" "" "" "" "" "" "" "" "PGL-EA" "" "" "" "0000052643" "05085" "00072952" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-EA" "" "" "" "0000052644" "00198" "00072953" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052645" "00198" "00072954" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052646" "00198" "00072955" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052647" "00198" "00072956" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052648" "00198" "00072957" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052649" "00198" "00072958" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052650" "00198" "00072959" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052651" "00198" "00072960" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052652" "00198" "00072961" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052653" "00198" "00072962" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052659" "00198" "00072968" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052660" "00198" "00072969" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052672" "05085" "00072981" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000052673" "05085" "00072982" "01713" "Unknown" "" "Organ of Zuckerkandl tumor" "" "" "" "" "" "" "" "" "PGL-EA" "" "" "" "0000052674" "05085" "00072983" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-EA;PCC-Z" "" "" "" "0000052675" "05085" "00072984" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-EA" "" "" "" "0000052739" "05085" "00073048" "01657" "Unknown" "" "Extraadrenal retroperitoneal paraganglioma + pheochromocytoma" "" "" "" "" "" "" "" "" "PGL-EA;PCC-EA" "" "" "" "0000052740" "05085" "00073049" "01657" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB" "" "" "" "0000052741" "05085" "00073050" "01657" "Unknown" "" "Abdominal paraganglioma" "" "" "" "" "" "" "" "" "PGL-EA" "" "" "" "0000052748" "05085" "00073057" "01658" "Unknown" "" "probably metastatic" "" "" "" "" "" "" "" "" "PGL-EA" "" "" "" "0000052766" "00198" "00073074" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052767" "00198" "00073075" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052768" "00198" "00073076" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052771" "05093" "00073079" "01713" "Unknown" "" "Renal tumors of consistent but previously unrecognized morphology." "" "" "" "" "" "" "" "" "RCC" "" "" "" "0000052772" "05093" "00073080" "01713" "Unknown" "" "Renal tumor of consistent but previously unrecognized morphology." "" "" "" "" "" "" "" "" "RCC" "" "" "" "0000052773" "05093" "00073081" "01713" "Unknown" "" "Renal tumor of consistent but previously unrecognized morphology." "" "" "" "" "" "" "" "" "RCC" "" "" "" "0000052774" "05093" "00073082" "01713" "Unknown" "" "Renal tumor." "" "" "" "" "" "" "" "" "RCC" "" "" "" "0000052775" "00198" "00073083" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052779" "05085" "00073087" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB" "" "" "" "0000052781" "05085" "00073089" "01713" "Unknown" "" "(SDHB-malignant paraganglioma with dramatic response to temozolomidecapecitabine)" "" "" "" "" "" "" "" "" "PGL-EA" "" "" "" "0000052782" "05093" "00073090" "01713" "Unknown" "" "26y spindle cell intermediate risk GIST" "" "" "" "" "" "" "" "" "GIST" "" "" "" "0000052787" "05085" "00073095" "01661" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB" "" "" "" "0000052793" "05085" "00073101" "01664" "Unknown" "" "Metastatic; Malignant" "" "" "" "" "" "" "" "" "PGL-HN;PGL-IA" "" "" "" "0000052794" "00198" "00073102" "01664" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052795" "05093" "00073103" "01664" "Unknown" "" "Pheochromocytoma + renal cell carcinoma" "" "" "" "" "" "" "" "" "RCC" "" "" "" "0000052796" "05085" "00073104" "01664" "Unknown" "" "Paraganglioma (intraabdominal multiple, malignant)" "" "" "" "" "" "" "" "" "PGL-EA" "" "" "" "0000059095" "00198" "00079374" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059100" "05085" "00079379" "01713" "Unknown" "" "Adrenal PGL" "" "" "" "" "" "" "" "" "PGL;PGL-EA" "" "" "" "0000059102" "05085" "00079381" "01713" "Unknown" "" "TAP-PGL; Metastatic" "" "" "" "" "" "" "" "" "PGL-EA" "" "" "" "0000059103" "05093" "00079381" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "RCC" "" "" "" "0000059111" "05085" "00079389" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059112" "05085" "00079390" "01713" "Unknown" "" "Hemangiopericytoma/PGL" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059125" "05085" "00079403" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059126" "05093" "00079404" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "GIST" "" "" "" "0000059127" "05085" "00079404" "01713" "Unknown" "" "PPGL" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059128" "05085" "00079405" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059129" "05085" "00079406" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000059133" "05085" "00079410" "01713" "Unknown" "" "sporadic" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000059134" "05085" "00079411" "01713" "Unknown" "" "sporadic" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000059139" "05085" "00079416" "01713" "Unknown" "" "sporadic" "" "" "" "" "" "" "" "" "" "" "" "" "0000059141" "05085" "00079418" "01713" "Unknown" "" "sporadic" "" "" "" "" "" "" "" "" "" "" "" "" "0000059142" "05085" "00079419" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000059146" "05093" "00079423" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059156" "05085" "00079432" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000059159" "05093" "00079435" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059162" "05085" "00079438" "01713" "Unknown" "" "Bilateral" "" "" "" "" "" "" "" "" "" "" "" "" "0000059164" "05085" "00079440" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-JT" "" "" "" "0000059170" "05085" "00079446" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059172" "05085" "00079448" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC;PGL" "" "" "" "0000059173" "05085" "00079449" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059192" "05085" "00079468" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059193" "05085" "00079469" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059194" "05085" "00079470" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059195" "05085" "00079471" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000059196" "05085" "00079472" "01713" "Unknown" "" "Pheo;PGL" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059197" "05085" "00079473" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC;PGL" "" "" "" "0000059198" "05085" "00079474" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059199" "05085" "00079475" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059200" "05085" "00079476" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059201" "05085" "00079477" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059202" "05085" "00079478" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059203" "05085" "00079479" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059204" "05085" "00079480" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059205" "05085" "00079481" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059206" "05085" "00079482" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059207" "05085" "00079483" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059208" "05085" "00079484" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059209" "00198" "00079485" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059210" "05085" "00079486" "01713" "Unknown" "" "Pheo;PGL" "" "" "" "" "" "" "" "" "PGL-EA" "" "" "" "0000059211" "05085" "00079487" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC;PGL" "" "" "" "0000059212" "05085" "00079488" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059242" "05085" "00079518" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN;PGL-EA" "" "" "" "0000069513" "01230" "00090171" "01713" "Unknown" "" "Jugular PGL" "" "" "" "" "" "" "" "" "" "" "" "" "0000070618" "00999" "00092279" "01713" "Unknown" "" "Carney triad, the association of paragangliomas/pheochromocytomas, gastrointestinal stromal tumors and pulmonary chondromas" "" "28" "" "" "" "" "" "" "" "" "" "" "0000074203" "00000" "00095915" "01713" "Unknown" "" "Paraganglioma" "" "51" "" "" "" "" "" "" "" "" "" "" "0000078554" "01503" "00100332" "01899" "Familial" "47y" "multifocal PHEOs, biochemical phenotype predominantly adrenergic, ccRCC; sons carrying variant had ephelides in their lips; sons (23y/22y) currently normal urinary/plasma metanephrines, unremarkable abdominal MRI except tiny right renal cyst oldest son" "" "47y" "" "" "" "" "" "" "PCC" "" "" "" "0000119185" "01230" "00146445" "02355" "Familial, autosomal dominant" "08y" "(HP:0002668) Abnormality of the endocrine system" "08y" "08y" "(HP:0002668) extra adrenal paraganglioma" "" "" "" "" "" "PGL-IA" "" "" "" "0000155584" "00198" "00207802" "01164" "Unknown" "" "HP:0100635 (Carotid paraganglioma)" "" "" "" "" "" "" "" "" "" "" "" "" "0000156786" "00198" "00037001" "01164" "Familial" "" "familiar SDHB-mutation c.72-8A>G (Intron1)" "" "" "" "" "" "" "" "" "" "" "SDHB carrier?" "" "0000156787" "00198" "00037004" "01164" "Unknown" "" "brother: SDHB-mutation" "" "" "" "" "" "" "" "" "" "" "SDHB variant?" "" "0000156788" "05085" "00037005" "01164" "Unknown" "" "paraganglioma, son with pheochomocytoma" "" "" "" "" "" "" "" "" "" "" "paraganglioma" "" "0000156789" "00198" "00037007" "01164" "Unknown" "" "Carney-Stratakis syndrome" "" "" "" "" "" "" "" "" "" "" "Carney-Stratakis syndrome" "" "0000186400" "00318" "00246549" "00643" "Unknown" "" "no family history; no triple-negative breast cancer; 28y first breast cancer" "" "" "" "" "" "" "" "" "" "" "breast cancer" "" "0000201825" "00198" "00263966" "01164" "Unknown" "" "Paraganglioma (HP:0002668)" "" "" "" "" "" "" "" "" "" "" "" "" "0000204221" "00198" "00266486" "02355" "Familial" "" "tumor; family history" "" "" "" "" "" "" "" "" "" "" "tumor" "" "0000204223" "00198" "00266488" "02355" "Familial" "" "tumor; family history" "" "" "" "" "" "" "" "" "" "" "tumor" "" "0000204226" "00198" "00266491" "02355" "Familial" "" "tumor; family history" "" "" "" "" "" "" "" "" "" "" "tumor" "" "0000204234" "00198" "00266499" "02355" "Familial" "" "tumor; family history" "" "" "" "" "" "" "" "" "" "" "tumor" "" "0000204235" "00198" "00266500" "02355" "Familial" "" "tumor; family history" "" "" "" "" "" "" "" "" "" "" "tumor" "" "0000204239" "00198" "00266504" "02355" "Familial" "" "tumor; family history" "" "" "" "" "" "" "" "" "" "" "tumor" "" "0000204240" "00198" "00266505" "02355" "Unknown" "" "tumor; no family history" "" "" "" "" "" "" "" "" "" "" "tumor" "" "0000204241" "00198" "00266506" "02355" "Familial" "" "tumor; family history" "" "" "" "" "" "" "" "" "" "" "tumor" "" "0000204244" "00198" "00266509" "02355" "Familial" "" "tumor; family history" "" "" "" "" "" "" "" "" "" "" "tumor" "" "0000223267" "00198" "00295749" "01164" "Unknown" "" "Paraganglioma (HP:0002668)" "" "" "" "" "" "" "" "" "" "" "" "" "0000233066" "01544" "00307262" "03753" "Unknown" "" "Unilateral" "" "00y05m" "HP:0000486" "" "" "" "" "" "" "" "" "" "0000289985" "00198" "00396827" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "pheochromocytoma/paraganglioma" "" "0000289986" "00198" "00396828" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "pheochromocytoma/paraganglioma" "" "0000289987" "00198" "00396829" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "pheochromocytoma/paraganglioma" "" "0000289988" "00198" "00396830" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "pheochromocytoma/paraganglioma" "" "0000289989" "00198" "00396831" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "pheochromocytoma/paraganglioma" "" "0000321511" "02544" "00430902" "01713" "Unknown" "" "" "" "12y" "" "" "" "" "" "" "" "" "" "" "0000333004" "05489" "00443722" "04599" "Unknown" "46" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337721" "05085" "00448538" "01468" "Familial, autosomal dominant" "17y" "" "" "17y" "" "" "" "" "" "" "PGL-PA" "" "17y" "" "0000343288" "03407" "00089120" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe hypotonia, psychomotor regression, leukoencephalopathy" "01y" "" "" "" "" "" "" "" "" "" "" "" "0000345836" "04296" "00457374" "04749" "Unknown" "" "Ovarian carcinoma 73y Breast cancer 60y and 72y Papillary urothelial carcinoma, age unknown" "" "" "" "" "" "" "" "" "" "" "MINAS" "" ## Screenings ## Do not remove or alter this header ## ## Count = 363 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000037071" "00037001" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037072" "00037002" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037073" "00037003" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037074" "00037004" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037075" "00037005" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037076" "00037006" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037077" "00037007" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037078" "00037008" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000072519" "00072362" "1" "01713" "01713" "2006-02-28 13:27:42" "00008" "2016-08-10 18:54:29" "PCRm;RT-PCRq" "DNA" "" "" "0000072520" "00072363" "1" "01713" "01713" "2006-02-28 13:31:56" "00008" "2016-08-10 18:54:29" "PCRm;RT-PCRq" "DNA" "" "" "0000072521" "00072364" "1" "01713" "01713" "2006-02-28 13:34:51" "00008" "2016-08-10 18:54:29" "PCRm;RT-PCRq" "DNA" "" "" "0000072522" "00072365" "1" "01713" "01713" "2005-04-25 09:42:27" "00008" "2016-08-10 18:54:29" "SEQ;PCRsqd" "DNA" "" "" "0000072523" "00072366" "1" "01713" "01713" "2005-04-25 09:42:27" "00008" "2016-08-10 18:54:29" "SEQ" "DNA" "" "" "0000072524" "00072367" "1" "01713" "01713" "2005-04-25 09:42:27" "00008" "2016-08-10 18:54:29" "SEQ" "DNA" "" "" "0000072525" "00072368" "1" "01713" "01713" "2005-04-25 09:42:27" "00008" "2016-08-10 18:54:29" "SEQ;SSCA" "DNA" "" "" "0000072526" "00072369" "1" "01713" "01713" "2006-12-12 14:37:43" "00008" "2016-08-10 18:54:29" "SEQ" "DNA" "" "" "0000072527" "00072370" "1" "01713" "01713" "2005-04-25 09:42:27" "00008" "2016-08-10 18:54:29" "CSGE;SEQ" "DNA" "" "" "0000072528" "00072371" "1" "01713" "01713" "2005-12-13 11:26:32" "00008" "2016-08-10 18:54:29" "SEQ" "DNA" "" "" "0000072529" "00072372" "1" "01713" "01713" "2005-04-25 09:42:27" "00008" "2016-08-10 18:54:29" "SEQ" "DNA" "" "" "0000072530" "00072373" "1" "01713" "01713" "2005-04-25 09:42:27" "00008" "2016-08-10 18:54:29" "SEQ" "DNA" "" "" "0000072531" "00072374" "1" "01713" "01713" "2006-09-01 17:39:35" "00008" "2016-08-10 18:54:29" "SEQ" "DNA" "" "" "0000072532" "00072375" "1" "01713" "01713" "2005-04-25 09:42:27" "00008" "2016-08-10 18:54:29" "SEQ" "DNA" "" "" "0000072533" "00072376" "1" "01713" "01713" "2005-04-25 09:42:27" "00008" "2016-08-10 18:54:29" "SEQ;SSCA" "DNA" "" "" "0000072534" "00072377" "1" "01713" "01713" "2005-04-25 09:42:27" "00008" "2016-08-10 18:54:29" "SSCA;SEQ" "DNA" "" "" "0000072535" "00072378" "1" "01713" "01713" "2005-04-25 09:42:27" "00008" "2016-08-10 18:54:29" "SSCA;SEQ" "DNA" "" "" "0000072536" "00072379" "1" "01713" "01713" "2005-04-25 09:42:27" "00008" "2016-08-10 18:54:29" "SEQ" "DNA" "" "" "0000072537" "00072380" "1" "01713" "01713" "2005-04-25 09:42:27" "00008" "2016-08-10 18:54:29" "SEQ" "DNA" "" "" "0000072538" "00072381" "1" "01713" "01713" "2005-04-25 09:42:27" "00008" "2016-08-10 18:54:29" "SEQ" "DNA" "" "" "0000072539" "00072382" "1" "01713" "01713" "2005-04-25 09:42:27" "00008" "2016-08-10 18:54:29" "SSCA;SEQ" "DNA" "" "" "0000072540" "00072383" "1" "01713" "01713" "2005-04-25 09:42:27" "00008" "2016-08-10 18:54:29" "SEQ" "DNA" "" "" "0000072541" "00072384" "1" "01713" "01713" "2005-04-25 09:42:27" "00008" "2016-08-10 18:54:29" "SEQ;SSCA" "DNA" "" "" "0000072542" "00072385" "1" "01713" "01713" "2005-04-25 09:42:27" "00008" "2016-08-10 18:54:29" "SEQ;CSGE" "DNA" "" "" "0000072543" "00072386" "1" "01713" "01713" "2005-04-25 09:42:27" "00008" "2016-08-10 18:54:29" "SSCA;SEQ" "DNA" "" "" "0000072544" "00072387" "1" "01713" "01713" "2005-04-25 09:42:27" "00008" "2016-08-10 18:54:29" "SEQ;SSCA" "DNA" "" "" "0000072545" "00072388" "1" "01713" "01713" "2005-12-13 11:40:38" "00008" "2016-08-10 18:54:29" "SEQ" "DNA" "" "" "0000072546" "00072389" "1" "01713" "01713" "2005-04-25 09:42:27" "00008" "2016-08-10 18:54:29" "SSCA;SEQ" "DNA" "" "" "0000072547" "00072390" "1" "01713" "01713" "2005-04-25 09:42:27" "00008" "2016-08-10 18:54:29" "SEQ" "DNA" "" "" "0000072548" "00072391" "1" "01713" "01713" "2005-04-25 09:42:27" "00008" "2016-08-10 18:54:29" "SSCA;SEQ" "DNA" "" "" "0000072549" "00072392" "1" "01713" "01713" "2005-04-25 09:42:27" "00008" "2016-08-10 18:54:29" "SEQ" "DNA" "" "" "0000072550" "00072393" "1" "01713" "01713" "2005-04-25 09:42:27" "00008" "2016-08-10 18:54:29" "DHPLC" "DNA" "" "" "0000072551" "00072394" "1" "01713" "01713" "2005-04-25 09:42:27" "00008" "2016-08-10 18:54:29" "DHPLC" "DNA" "" "" "0000072552" "00072395" "1" "01713" "01713" "2005-04-25 09:42:27" "00008" "2016-08-10 18:54:29" "SSCA;SEQ" "DNA" "" "" "0000072553" "00072396" "1" "01713" "01713" "2005-04-25 09:42:27" "00008" "2016-08-10 18:54:29" "SSCA;SEQ" "DNA" "" "" "0000072554" "00072397" "1" "01713" "01713" "2005-04-25 09:42:27" "00008" "2016-08-10 18:54:29" "SEQ;SSCA" "DNA" "" "" "0000072555" "00072398" "1" "01713" "01713" "2006-12-12 14:20:37" "00008" "2016-08-10 18:54:29" "SEQ" "DNA" "" "" "0000072556" "00072399" "1" "01648" "01713" "2005-04-25 09:42:27" "" "" "SEQ;SSCA" "DNA" "" "" "0000072557" "00072400" "1" "01645" "01645" "2006-05-23 02:50:34" "" "" "SEQ" "DNA" "" "" "0000072558" "00072401" "1" "01713" "01713" "2006-09-01 17:06:57" "" "" "SEQ" "DNA" "" "" "0000072559" "00072402" "1" "01713" "01713" "2005-04-25 09:42:27" "" "" "SSCA;SEQ" "DNA" "" "" "0000072560" "00072403" "1" "01713" "01713" "2007-01-16 11:26:54" "" "" "SEQ" "DNA" "" "" "0000072561" "00072404" "1" "01713" "01713" "2005-12-13 11:49:34" "" "" "SEQ" "DNA" "" "" "0000072562" "00072405" "1" "01648" "01713" "2005-12-13 11:54:23" "" "" "SEQ" "DNA" "" "" "0000072563" "00072406" "1" "01713" "01713" "2005-12-13 11:57:46" "" "" "SEQ" "DNA" "" "" "0000072564" "00072407" "1" "01713" "01713" "2006-02-28 14:09:09" "" "" "SEQ" "DNA" "" "" "0000072565" "00072408" "1" "01642" "01642" "2005-11-25 17:08:54" "" "" "SEQ;SSCA" "DNA" "" "" "0000072566" "00072409" "1" "01713" "01713" "2005-04-25 09:42:27" "" "" "SEQ;SSCA" "DNA" "" "" "0000072567" "00072410" "1" "01713" "01713" "2005-12-13 12:22:42" "" "" "SEQ" "DNA" "" "" "0000072568" "00072411" "1" "01648" "01713" "2005-04-25 09:42:27" "" "" "SEQ;SSCA" "DNA" "" "" "0000072569" "00072412" "1" "01713" "01713" "2007-01-16 11:48:55" "" "" "SEQ" "DNA" "" "" "0000072570" "00072413" "1" "01713" "01713" "2005-04-25 09:42:27" "" "" "SSCA;SEQ" "DNA" "" "" "0000072571" "00072414" "1" "01713" "01713" "2005-12-13 12:29:37" "" "" "SEQ" "DNA" "" "" "0000072572" "00072415" "1" "01713" "01713" "2005-04-25 09:42:27" "" "" "SSCA;SEQ" "DNA" "" "" "0000072573" "00072416" "1" "01713" "01713" "2005-04-25 09:42:27" "" "" "SSCA;SEQ" "DNA" "" "" "0000072574" "00072417" "1" "01713" "01713" "2005-04-25 09:42:27" "" "" "DGGE;SEQ" "DNA" "" "" "0000072575" "00072418" "1" "01713" "01713" "2006-09-04 11:44:22" "" "" "SEQ" "DNA" "" "" "0000072576" "00072419" "1" "01713" "01713" "2005-04-25 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072577" "00072420" "1" "01043" "01713" "2005-04-25 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072578" "00072421" "1" "01713" "01713" "2005-12-13 12:41:10" "" "" "SEQ" "DNA" "" "" "0000072579" "00072422" "1" "01713" "01713" "2005-12-13 13:25:08" "" "" "SEQ" "DNA" "" "" "0000072580" "00072423" "1" "01713" "01713" "2005-04-25 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072581" "00072424" "1" "01648" "01713" "2005-04-25 09:42:27" "" "" "SEQ;SSCA" "DNA" "" "" "0000072582" "00072425" "1" "01713" "01713" "2005-12-13 13:28:56" "" "" "SEQ" "DNA" "" "" "0000072583" "00072426" "1" "01713" "01713" "2007-01-16 12:33:59" "" "" "SSCA;SEQ" "DNA" "" "" "0000072584" "00072427" "1" "01713" "01713" "2005-04-25 09:42:27" "" "" "SSCA;SEQ" "DNA" "" "" "0000072585" "00072428" "1" "01648" "01648" "2007-01-24 15:12:08" "" "" "SEQ;SSCA" "DNA" "" "" "0000072586" "00072429" "1" "01713" "01713" "2005-04-25 09:42:27" "" "" "SEQ;SSCA" "DNA" "" "" "0000072587" "00072430" "1" "01713" "01713" "2005-12-13 13:31:37" "" "" "SEQ" "DNA" "" "" "0000072588" "00072431" "1" "01646" "01646" "2007-01-24 15:22:50" "" "" "SEQ" "DNA" "" "" "0000072589" "00072432" "1" "01713" "01713" "2005-04-25 09:42:27" "" "" "SEQ;SSCA" "DNA" "" "" "0000072590" "00072433" "1" "01713" "01713" "2005-04-25 09:42:27" "" "" "SEQ;SSCA" "DNA" "" "" "0000072591" "00072434" "1" "01713" "01713" "2005-04-25 09:42:27" "" "" "SEQ;SSCA" "DNA" "" "" "0000072592" "00072435" "1" "01713" "01713" "2005-04-25 09:42:27" "" "" "SEQ;SSCA" "DNA" "" "" "0000072593" "00072436" "1" "01648" "01713" "2005-12-13 13:41:09" "" "" "SEQ;SSCA" "DNA" "" "" "0000072594" "00072437" "1" "01713" "01713" "2006-12-12 11:12:20" "" "" "SEQ" "DNA" "" "" "0000072595" "00072438" "1" "01713" "01713" "2005-04-25 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072596" "00072439" "1" "01713" "01713" "2005-12-13 13:50:31" "" "" "SEQ" "DNA" "" "" "0000072597" "00072440" "1" "01713" "01713" "2006-09-07 10:37:17" "" "" "SEQ" "DNA" "" "" "0000072598" "00072441" "1" "01713" "01713" "2005-12-13 13:53:23" "" "" "SEQ" "DNA" "" "" "0000072599" "00072442" "1" "01713" "01713" "2005-12-13 16:30:28" "" "" "SEQ" "DNA" "" "" "0000072600" "00072443" "1" "01713" "01713" "2005-04-25 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072601" "00072444" "1" "01644" "01644" "2005-12-05 19:50:48" "" "" "SEQ" "DNA" "" "" "0000072602" "00072445" "1" "01713" "01713" "2005-04-25 09:42:27" "" "" "SSCA;SEQ" "DNA" "" "" "0000072603" "00072446" "1" "01643" "01643" "2006-03-22 22:05:10" "" "" "SEQ" "DNA" "" "" "0000072604" "00072447" "1" "01713" "01713" "2006-09-07 10:52:06" "" "" "SEQ" "DNA" "" "" "0000072605" "00072448" "1" "01713" "01713" "2005-04-25 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072606" "00072449" "1" "01713" "01713" "2006-12-12 14:26:58" "" "" "SEQ" "DNA" "" "" "0000072607" "00072450" "1" "01713" "01713" "2005-12-13 14:09:50" "" "" "SEQ;SSCA" "DNA" "" "" "0000072608" "00072451" "1" "01713" "01713" "2005-12-13 14:20:36" "" "" "SEQ" "DNA" "" "" "0000072609" "00072452" "1" "01713" "01713" "2005-04-25 09:42:27" "" "" "SEQ;SSCA" "DNA" "" "" "0000072610" "00072453" "1" "01713" "01713" "2005-12-13 14:11:37" "" "" "SEQ" "DNA" "" "" "0000072611" "00072454" "1" "01713" "01713" "2005-12-13 14:17:24" "" "" "SEQ" "DNA" "" "" "0000072612" "00072455" "1" "01713" "01713" "2005-04-25 09:42:27" "" "" "SEQ;SSCA" "DNA" "" "" "0000072613" "00072456" "1" "01713" "01713" "2005-04-25 09:42:27" "" "" "SSCA;SEQ" "DNA" "" "" "0000072614" "00072457" "1" "01713" "01713" "2005-12-13 14:24:10" "" "" "SEQ" "DNA" "" "" "0000072615" "00072458" "1" "01713" "01713" "2005-12-13 14:26:02" "" "" "SEQ;SSCA" "DNA" "" "" "0000072616" "00072459" "1" "01713" "01713" "2005-04-25 09:42:27" "" "" "SSCA;SEQ" "DNA" "" "" "0000072703" "00072546" "1" "01713" "01713" "2007-08-28 12:10:44" "" "" "SEQ" "DNA" "" "" "0000072704" "00072547" "1" "01713" "01713" "2007-08-28 13:42:38" "" "" "SEQ;SSCA" "DNA" "" "" "0000072705" "00072548" "1" "01713" "01713" "2007-08-28 13:47:36" "" "" "SEQ" "DNA" "" "" "0000072706" "00072549" "1" "01713" "01713" "2007-08-28 13:50:28" "" "" "SEQ" "DNA" "" "" "0000072707" "00072550" "1" "01713" "01713" "2007-08-28 13:53:41" "" "" "SEQ" "DNA" "" "" "0000072708" "00072551" "1" "01713" "01713" "2007-08-28 15:09:44" "" "" "SEQ" "DNA" "" "" "0000072709" "00072552" "1" "01713" "01713" "2007-08-28 15:15:08" "" "" "SEQ" "DNA" "" "" "0000072710" "00072553" "1" "01713" "01713" "2007-08-28 15:41:38" "" "" "SEQ" "DNA" "" "" "0000072713" "00072556" "1" "01713" "01713" "2007-08-30 14:47:42" "" "" "SEQ" "DNA" "" "" "0000072714" "00072557" "1" "01713" "01713" "2007-08-30 15:57:08" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000072717" "00072560" "1" "01713" "01713" "2007-09-03 12:16:33" "" "" "SEQ" "DNA" "" "" "0000072722" "00072565" "1" "01713" "01713" "2007-09-03 13:46:43" "" "" "PCRsqd" "DNA" "" "" "0000072892" "00072735" "1" "01043" "01043" "2007-09-21 13:00:09" "" "" "SEQ" "DNA" "" "" "0000072893" "00072736" "1" "01649" "01649" "2007-10-04 10:53:32" "" "" "DGGE;SEQ" "DNA" "" "" "0000072894" "00072737" "1" "01649" "01649" "2007-10-04 11:04:53" "" "" "DGGE" "DNA" "" "" "0000072895" "00072738" "1" "01646" "01713" "2007-10-10 12:38:52" "" "" "SEQ" "DNA" "" "" "0000072897" "00072740" "1" "01043" "01043" "2007-10-25 13:37:00" "" "" "SEQ" "DNA" "" "" "0000072898" "00072741" "1" "01043" "01043" "2007-10-25 13:39:16" "" "" "SEQ" "DNA" "" "" "0000072899" "00072742" "1" "01713" "01713" "2007-10-25 16:25:36" "" "" "SEQ" "DNA" "" "" "0000072903" "00072746" "1" "01645" "01645" "2008-01-03 03:05:43" "" "" "BESS" "DNA" "" "" "0000072908" "00072751" "1" "01713" "01713" "2008-04-09 16:48:49" "" "" "SEQ" "DNA" "" "" "0000072909" "00072752" "1" "01713" "01713" "2008-04-09 16:57:32" "" "" "SEQ" "DNA" "" "" "0000072910" "00072753" "1" "01713" "01713" "2008-04-09 17:07:52" "" "" "SEQ" "DNA" "" "" "0000072911" "00072754" "1" "01713" "01713" "2008-04-09 17:11:39" "" "" "SEQ" "DNA" "" "" "0000072914" "00072757" "1" "01650" "01650" "2008-06-11 21:20:10" "" "" "SEQ" "DNA" "" "" "0000072918" "00072761" "1" "01713" "01713" "2008-06-26 16:27:18" "" "" "SEQ" "DNA" "" "" "0000072919" "00072762" "1" "01713" "01713" "2008-06-26 16:40:39" "" "" "SEQ" "DNA" "" "" "0000072921" "00072764" "1" "01645" "01645" "2008-07-30 02:27:29" "" "" "BESS" "DNA" "" "" "0000072926" "00072769" "1" "01713" "01713" "2008-08-21 15:47:03" "" "" "SEQ" "DNA" "" "" "0000072930" "00072773" "1" "01713" "01713" "2008-08-21 17:50:03" "" "" "PCRm" "DNA" "" "" "0000072931" "00072774" "1" "01713" "01713" "2008-08-21 18:07:54" "" "" "SEQ" "DNA" "" "" "0000072933" "00072776" "1" "01653" "01653" "2008-09-29 22:07:41" "" "" "PCR" "DNA" "" "" "0000072934" "00072777" "1" "01654" "01654" "2008-10-07 18:52:03" "" "" "SEQ" "DNA" "" "" "0000072935" "00072778" "1" "01654" "01654" "2008-10-08 14:14:38" "" "" "SEQ" "DNA" "" "" "0000072936" "00072779" "1" "01654" "01654" "2008-10-08 17:55:02" "" "" "SEQ" "DNA" "" "" "0000072937" "00072780" "1" "01654" "01654" "2008-10-08 17:59:08" "" "" "SEQ" "DNA" "" "" "0000072938" "00072781" "1" "01654" "01654" "2008-10-08 18:14:12" "" "" "SEQ" "DNA" "" "" "0000072939" "00072782" "1" "01043" "01043" "2008-10-16 14:53:31" "" "" "SEQ" "DNA" "" "" "0000072941" "00072784" "1" "01713" "01713" "2008-10-27 13:20:30" "" "" "SEQ" "DNA" "" "" "0000072944" "00072787" "1" "01713" "01713" "2008-10-27 16:35:07" "" "" "SEQ" "DNA" "" "" "0000072945" "00072788" "1" "01713" "01713" "2008-12-24 10:53:00" "" "" "SEQ" "DNA" "" "" "0000072947" "00072790" "1" "01713" "01713" "2009-03-09 17:13:46" "" "" "DHPLC" "DNA" "" "" "0000072948" "00072791" "1" "01713" "01713" "2009-03-09 17:21:40" "" "" "DHPLC" "DNA" "" "" "0000072949" "00072792" "1" "01713" "01713" "2009-03-10 15:46:58" "" "" "SEQ" "DNA" "" "" "0000072950" "00072793" "1" "01713" "01713" "2009-03-10 15:53:55" "" "" "SEQ" "DNA" "" "" "0000072951" "00072794" "1" "01713" "01713" "2009-03-10 16:02:10" "" "" "SEQ" "DNA" "" "" "0000072957" "00072800" "1" "01645" "01645" "2009-04-15 03:37:13" "" "" "SEQ" "DNA" "" "" "0000072958" "00072801" "1" "01652" "01652" "2009-05-01 02:37:06" "" "" "SEQ" "DNA" "" "" "0000072960" "00072803" "1" "01648" "01648" "2009-05-03 20:37:49" "" "" "MLPA" "DNA" "" "" "0000072961" "00072804" "1" "01655" "01655" "2009-08-12 13:18:27" "" "" "SEQ" "DNA" "" "" "0000072962" "00072805" "1" "01655" "01655" "2009-08-12 13:41:13" "" "" "SEQ" "DNA" "" "" "0000072968" "00072811" "1" "01655" "01655" "2009-08-16 09:12:51" "" "" "SEQ" "DNA" "" "" "0000072969" "00072812" "1" "01713" "01713" "2009-08-20 16:10:01" "" "" "SEQ" "DNA" "" "" "0000072970" "00072813" "1" "01713" "01713" "2009-08-20 16:12:24" "" "" "SEQ" "DNA" "" "" "0000072971" "00072814" "1" "01713" "01713" "2009-08-20 16:16:17" "" "" "SEQ" "DNA" "" "" "0000072972" "00072815" "1" "01713" "01713" "2009-08-20 16:20:57" "" "" "SEQ" "DNA" "" "" "0000072973" "00072816" "1" "01713" "01713" "2009-08-20 16:23:34" "" "" "SEQ" "DNA" "" "" "0000072974" "00072817" "1" "01713" "01713" "2009-08-20 16:28:28" "" "" "SEQ" "DNA" "" "" "0000072975" "00072818" "1" "01713" "01713" "2009-08-20 16:31:10" "" "" "SEQ" "DNA" "" "" "0000072976" "00072819" "1" "01713" "01713" "2009-08-20 16:33:16" "" "" "SEQ" "DNA" "" "" "0000072977" "00072820" "1" "01713" "01713" "2009-08-20 16:35:10" "" "" "SEQ" "DNA" "" "" "0000072978" "00072821" "1" "01713" "01713" "2009-08-20 16:37:43" "" "" "SEQ" "DNA" "" "" "0000072979" "00072822" "1" "01713" "01713" "2009-08-20 16:40:13" "" "" "SEQ" "DNA" "" "" "0000072980" "00072823" "1" "01713" "01713" "2009-08-20 16:42:23" "" "" "SEQ" "DNA" "" "" "0000072984" "00072827" "1" "01655" "01655" "2009-08-21 16:56:02" "" "" "SEQ" "DNA" "" "" "0000072985" "00072828" "1" "01655" "01655" "2009-08-21 17:00:47" "" "" "SEQ" "DNA" "" "" "0000072999" "00072842" "1" "01713" "01713" "2009-09-03 13:57:52" "" "" "PCRsqd" "DNA" "" "" "0000073000" "00072843" "1" "01713" "01713" "2009-09-04 09:42:35" "" "" "SEQ" "DNA" "" "" "0000073001" "00072844" "1" "01713" "01713" "2009-09-04 09:44:25" "" "" "SEQ" "DNA" "" "" "0000073002" "00072845" "1" "01713" "01713" "2009-09-04 09:47:10" "" "" "SEQ" "DNA" "" "" "0000073003" "00072846" "1" "01713" "01713" "2009-09-04 09:48:45" "" "" "SEQ" "DNA" "" "" "0000073026" "00072869" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073027" "00072870" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073028" "00072871" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073029" "00072872" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "PCRm;MLPA;PCRlr" "DNA" "" "" "0000073030" "00072873" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073031" "00072874" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073032" "00072875" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073033" "00072876" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073034" "00072877" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073035" "00072878" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073036" "00072879" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073037" "00072880" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073038" "00072881" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073039" "00072882" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073040" "00072883" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073041" "00072884" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073042" "00072885" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073043" "00072886" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073044" "00072887" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073045" "00072888" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073046" "00072889" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073047" "00072890" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073048" "00072891" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073049" "00072892" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073050" "00072893" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073051" "00072894" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073052" "00072895" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073053" "00072896" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073054" "00072897" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073055" "00072898" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073056" "00072899" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073057" "00072900" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073058" "00072901" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073059" "00072902" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "PCRm;MLPA;PCRlr" "DNA" "" "" "0000073060" "00072903" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073061" "00072904" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "PCRm;MLPA" "DNA" "" "" "0000073062" "00072905" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073063" "00072906" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073064" "00072907" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073065" "00072908" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "PCRm;MLPA" "DNA" "" "" "0000073066" "00072909" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073067" "00072910" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073068" "00072911" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073069" "00072912" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073070" "00072913" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073071" "00072914" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073072" "00072915" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073073" "00072916" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073074" "00072917" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073075" "00072918" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073076" "00072919" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073077" "00072920" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073078" "00072921" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073079" "00072922" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073080" "00072923" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073081" "00072924" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073082" "00072925" "1" "01713" "01713" "2009-09-04 17:26:53" "" "" "SEQ" "DNA" "" "" "0000073084" "00072927" "1" "01713" "01713" "2009-09-09 11:02:15" "" "" "MLPA" "DNA" "" "" "0000073089" "00072932" "1" "01713" "01713" "2009-09-09 11:25:14" "" "" "MLPA" "DNA" "" "" "0000073090" "00072933" "1" "01713" "01713" "2009-09-09 12:20:31" "" "" "SEQ" "DNA" "" "" "0000073093" "00072936" "1" "01645" "01645" "2009-10-20 11:40:49" "" "" "SEQ" "DNA" "" "" "0000073098" "00072941" "1" "01655" "01655" "2009-12-26 16:38:54" "" "" "SEQ" "DNA" "" "" "0000073100" "00072943" "1" "01645" "01645" "2010-03-02 02:28:15" "" "" "BESS" "DNA" "" "" "0000073102" "00072945" "1" "01713" "01713" "2010-05-17 11:21:39" "" "" "SEQ" "DNA" "" "" "0000073106" "00072949" "1" "01713" "01713" "2010-05-17 12:49:31" "" "" "MLPA" "DNA" "" "" "0000073107" "00072950" "1" "01713" "01713" "2010-05-17 13:31:45" "" "" "SEQ" "DNA" "" "" "0000073109" "00072952" "1" "01713" "01713" "2010-05-17 16:49:09" "" "" "SEQ" "DNA" "" "" "0000073110" "00072953" "1" "01713" "01713" "2010-05-19 10:51:59" "" "" "SEQ" "DNA" "" "" "0000073111" "00072954" "1" "01713" "01713" "2010-05-19 10:54:26" "" "" "SEQ" "DNA" "" "" "0000073112" "00072955" "1" "01713" "01713" "2010-05-19 10:58:18" "" "" "SEQ" "DNA" "" "" "0000073113" "00072956" "1" "01713" "01713" "2010-05-19 11:00:45" "" "" "SEQ" "DNA" "" "" "0000073114" "00072957" "1" "01713" "01713" "2010-05-19 11:02:38" "" "" "SEQ" "DNA" "" "" "0000073115" "00072958" "1" "01713" "01713" "2010-05-19 11:05:16" "" "" "SEQ" "DNA" "" "" "0000073116" "00072959" "1" "01713" "01713" "2010-05-19 11:06:47" "" "" "SEQ" "DNA" "" "" "0000073117" "00072960" "1" "01713" "01713" "2010-05-19 12:19:10" "" "" "SEQ" "DNA" "" "" "0000073118" "00072961" "1" "01713" "01713" "2010-05-19 12:21:00" "" "" "SEQ" "DNA" "" "" "0000073119" "00072962" "1" "01713" "01713" "2010-05-19 14:02:50" "" "" "SEQ" "DNA" "" "" "0000073125" "00072968" "1" "01713" "01713" "2010-05-25 10:59:57" "" "" "SEQ" "DNA" "" "" "0000073126" "00072969" "1" "01713" "01713" "2010-05-25 11:01:59" "" "" "SEQ" "DNA" "" "" "0000073138" "00072981" "1" "01713" "01713" "2010-08-19 13:43:41" "" "" "SEQ" "DNA" "" "" "0000073139" "00072982" "1" "01713" "01713" "2010-08-19 13:58:34" "" "" "SEQ" "DNA" "" "" "0000073140" "00072983" "1" "01713" "01713" "2010-08-19 14:14:12" "" "" "SEQ" "DNA" "" "" "0000073141" "00072984" "1" "01713" "01713" "2010-08-19 14:28:23" "" "" "SEQ" "DNA" "" "" "0000073205" "00073048" "1" "01657" "01657" "2011-01-14 12:33:07" "" "" "SEQ" "DNA" "" "" "0000073206" "00073049" "1" "01657" "01657" "2011-01-14 12:42:55" "" "" "SEQ" "DNA" "" "" "0000073207" "00073050" "1" "01657" "01657" "2011-01-14 12:48:54" "" "" "SEQ" "DNA" "" "" "0000073214" "00073057" "1" "01658" "01658" "2011-03-25 10:25:25" "" "" "SEQ" "DNA" "" "" "0000073231" "00073074" "1" "01713" "01713" "2011-12-21 15:59:37" "" "" "SEQ" "DNA" "" "" "0000073232" "00073075" "1" "01713" "01713" "2011-12-21 16:05:39" "" "" "SEQ" "DNA" "" "" "0000073233" "00073076" "1" "01713" "01713" "2011-12-21 16:08:52" "" "" "SEQ" "DNA" "" "" "0000073236" "00073079" "1" "01713" "01713" "2012-03-21 17:30:27" "" "" "SEQ" "DNA" "" "" "0000073237" "00073080" "1" "01713" "01713" "2012-03-22 11:55:37" "" "" "SEQ" "DNA" "" "" "0000073238" "00073081" "1" "01713" "01713" "2012-03-22 12:00:26" "" "" "SEQ" "DNA" "" "" "0000073239" "00073082" "1" "01713" "01713" "2012-03-22 12:07:01" "" "" "SEQ" "DNA" "" "" "0000073240" "00073083" "1" "01713" "01713" "2012-03-22 13:15:20" "" "" "SEQ" "DNA" "" "" "0000073244" "00073087" "1" "01713" "01713" "2012-03-22 16:31:18" "" "" "SEQ" "DNA" "" "" "0000073246" "00073089" "1" "01713" "01713" "2012-03-26 14:59:08" "" "" "SEQ" "DNA" "" "" "0000073247" "00073090" "1" "01713" "01713" "2012-03-27 14:07:13" "" "" "SEQ" "DNA" "" "" "0000073252" "00073095" "1" "01661" "01661" "2012-10-11 18:25:52" "" "" "MLPA" "DNA" "" "" "0000073258" "00073101" "1" "01664" "01664" "2015-08-11 14:42:03" "" "" "SEQ" "DNA" "" "" "0000073259" "00073102" "1" "01664" "01664" "2015-08-11 14:45:18" "" "" "SEQ" "DNA" "" "" "0000073260" "00073103" "1" "01664" "01664" "2015-08-11 14:47:31" "" "" "SEQ" "DNA" "" "" "0000073261" "00073104" "1" "01664" "01664" "2015-08-11 14:50:08" "" "" "SEQ" "DNA" "" "" "0000079447" "00079374" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079452" "00079379" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ; SEQ-NG" "DNA" "" "" "0000079454" "00079381" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079462" "00079389" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079463" "00079390" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079476" "00079403" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079477" "00079404" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "PCR; MLPA" "DNA" "" "" "0000079478" "00079405" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "PCR; MLPA" "DNA" "" "" "0000079479" "00079406" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079483" "00079410" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079484" "00079411" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079489" "00079416" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079491" "00079418" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079492" "00079419" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079496" "00079423" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079505" "00079432" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079508" "00079435" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079511" "00079438" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ; MLPA" "DNA" "" "" "0000079513" "00079440" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079519" "00079446" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ-NG" "DNA" "" "" "0000079521" "00079448" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ-NG" "DNA" "" "" "0000079522" "00079449" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ-NG" "DNA" "" "" "0000079541" "00079468" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079542" "00079469" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079543" "00079470" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079544" "00079471" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079545" "00079472" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079546" "00079473" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079547" "00079474" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079548" "00079475" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079549" "00079476" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079550" "00079477" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079551" "00079478" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079552" "00079479" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079553" "00079480" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079554" "00079481" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079555" "00079482" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079556" "00079483" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079557" "00079484" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079558" "00079485" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA;RNA" "" "" "0000079559" "00079486" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079560" "00079487" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079561" "00079488" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079591" "00079518" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000080887" "00080775" "1" "01713" "00008" "2016-09-12 15:48:43" "" "" "SEQ" "DNA" "" "" "0000089266" "00089120" "1" "01713" "01713" "2016-11-29 18:48:18" "" "" "SEQ" "DNA" "" "" "0000090325" "00090171" "1" "01713" "01713" "2016-12-09 15:27:47" "" "" "SEQ" "DNA" "" "" "0000090326" "00090181" "1" "01713" "01713" "2016-12-09 15:34:48" "" "" "SEQ" "DNA" "" "" "0000090327" "00090182" "1" "01713" "01713" "2016-12-09 15:56:07" "" "" "SEQ" "DNA" "" "" "0000092419" "00092279" "1" "01713" "01713" "2016-12-17 15:45:55" "" "" "SEQ" "DNA" "" "" "0000096316" "00095915" "1" "01713" "01713" "2017-01-23 17:00:43" "" "" "MLPA" "DNA" "" "" "0000100736" "00100332" "1" "01899" "01899" "2017-02-10 23:54:41" "" "" "SEQ" "DNA" "Blood" "" "0000147300" "00146445" "1" "02355" "02355" "2017-12-28 15:47:15" "" "" "SEQ" "DNA" "" "" "0000208843" "00207802" "1" "01164" "01164" "2018-11-30 14:45:19" "" "" "SEQ-NG" "DNA" "" "" "0000247661" "00246549" "1" "00643" "00006" "2019-07-12 12:55:51" "" "" "SEQ" "DNA" "" "gene panel" "0000265079" "00263966" "1" "01164" "01164" "2019-09-02 18:38:10" "" "" "SEQ-NG-S" "DNA" "" "" "0000267613" "00266486" "1" "02355" "01873" "2019-08-07 20:11:25" "" "" "SEQ" "DNA" "" "" "0000267615" "00266488" "1" "02355" "01873" "2019-08-07 20:11:25" "" "" "SEQ" "DNA" "" "" "0000267618" "00266491" "1" "02355" "01873" "2019-08-07 20:11:25" "" "" "SEQ" "DNA" "" "" "0000267626" "00266499" "1" "02355" "01873" "2019-08-07 20:11:25" "" "" "SEQ" "DNA" "" "" "0000267627" "00266500" "1" "02355" "01873" "2019-08-07 20:11:25" "" "" "SEQ" "DNA" "" "" "0000267631" "00266504" "1" "02355" "01873" "2019-08-07 20:11:25" "" "" "SEQ" "DNA" "" "" "0000267632" "00266505" "1" "02355" "01873" "2019-08-07 20:11:25" "" "" "SEQ" "DNA" "" "" "0000267633" "00266506" "1" "02355" "01873" "2019-08-07 20:11:25" "" "" "SEQ" "DNA" "" "" "0000267636" "00266509" "1" "02355" "01873" "2019-08-07 20:11:25" "" "" "SEQ" "DNA" "" "" "0000290766" "00289598" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290767" "00289599" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296922" "00295749" "1" "01164" "01164" "2020-03-26 12:30:05" "" "" "SEQ-NG-S" "DNA" "" "" "0000305293" "00304164" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305294" "00304165" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308404" "00307262" "1" "03753" "03753" "2020-08-07 04:11:37" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "160 genes" "0000398066" "00396800" "1" "00006" "00006" "2021-12-17 14:49:10" "00006" "2021-12-17 15:17:50" "SEQ" "DNA" "" "" "0000398068" "00396827" "1" "00006" "00006" "2021-12-17 15:43:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000398069" "00396828" "1" "00006" "00006" "2021-12-17 15:43:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000398070" "00396829" "1" "00006" "00006" "2021-12-17 15:43:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000398071" "00396830" "1" "00006" "00006" "2021-12-17 15:43:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000398072" "00396831" "1" "00006" "00006" "2021-12-17 15:43:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000431895" "00430486" "1" "01713" "01713" "2023-01-20 16:01:59" "" "" "?" "DNA" "" "" "0000432313" "00430902" "1" "01713" "01713" "2023-01-25 12:53:17" "" "" "arraySEQ" "DNA" "" "" "0000436515" "00435044" "1" "01713" "01713" "2023-05-03 12:41:49" "" "" "?" "DNA" "" "" "0000445216" "00443722" "1" "04599" "04599" "2023-12-01 06:46:21" "" "" "SEQ-NG-I" "DNA" "Blood" "TruSight Cancer Sequencing Panel" "0000450126" "00448538" "1" "01468" "01468" "2024-04-03 10:31:27" "" "" "SEQ-NG-I" "DNA" "BLOOD" "WES result verified by Sanger Segregation analysis carried out" "0000458994" "00457374" "1" "04749" "00006" "2024-10-10 14:37:00" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 360 "{{screeningid}}" "{{geneid}}" "0000037071" "SDHB" "0000037072" "SDHB" "0000037073" "SDHB" "0000037074" "SDHB" "0000037075" "SDHB" "0000037076" "SDHB" "0000037077" "SDHB" "0000037078" "SDHB" "0000072519" "SDHB" "0000072520" "SDHB" "0000072521" "SDHB" "0000072522" "SDHB" "0000072523" "SDHB" "0000072524" "SDHB" "0000072525" "SDHB" "0000072526" "SDHB" "0000072527" "SDHB" "0000072528" "SDHB" "0000072529" "SDHB" "0000072530" "SDHB" "0000072531" "SDHB" "0000072532" "SDHB" "0000072533" "SDHB" "0000072534" "SDHB" "0000072535" "SDHB" "0000072536" "SDHB" "0000072537" "SDHB" "0000072538" "SDHB" "0000072539" "SDHB" "0000072540" "SDHB" "0000072541" "SDHB" "0000072542" "SDHB" "0000072543" "SDHB" "0000072544" "SDHB" "0000072545" "SDHB" "0000072546" "SDHB" "0000072547" "SDHB" "0000072548" "SDHB" "0000072549" "SDHB" "0000072550" "SDHB" "0000072551" "SDHB" "0000072552" "SDHB" "0000072553" "SDHB" "0000072554" "SDHB" "0000072555" "SDHB" "0000072556" "SDHB" "0000072557" "SDHB" "0000072558" "SDHB" "0000072559" "SDHB" "0000072560" "SDHB" "0000072561" "SDHB" "0000072562" "SDHB" "0000072563" "SDHB" "0000072564" "SDHB" "0000072565" "SDHB" "0000072566" "SDHB" "0000072567" "SDHB" "0000072568" "SDHB" "0000072569" "SDHB" "0000072570" "SDHB" "0000072571" "SDHB" "0000072572" "SDHB" "0000072573" "SDHB" "0000072574" "SDHB" "0000072575" "SDHB" "0000072576" "SDHB" "0000072577" "SDHB" "0000072578" "SDHB" "0000072579" "SDHB" "0000072580" "SDHB" "0000072581" "SDHB" "0000072582" "SDHB" "0000072583" "SDHB" "0000072584" "SDHB" "0000072585" "SDHB" "0000072586" "SDHB" "0000072587" "SDHB" "0000072588" "SDHB" "0000072589" "SDHB" "0000072590" "SDHB" "0000072591" "SDHB" "0000072592" "SDHB" "0000072593" "SDHB" "0000072594" "SDHB" "0000072595" "SDHB" "0000072596" "SDHB" "0000072597" "SDHB" "0000072598" "SDHB" "0000072599" "SDHB" "0000072600" "SDHB" "0000072601" "SDHB" "0000072602" "SDHB" "0000072603" "SDHB" "0000072604" "SDHB" "0000072605" "SDHB" "0000072606" "SDHB" "0000072607" "SDHB" "0000072608" "SDHB" "0000072609" "SDHB" "0000072610" "SDHB" "0000072611" "SDHB" "0000072612" "SDHB" "0000072613" "SDHB" "0000072614" "SDHB" "0000072615" "SDHB" "0000072616" "SDHB" "0000072703" "SDHB" "0000072704" "SDHB" "0000072705" "SDHB" "0000072706" "SDHB" "0000072707" "SDHB" "0000072708" "SDHB" "0000072709" "SDHB" "0000072710" "SDHB" "0000072713" "SDHB" "0000072714" "SDHB" "0000072717" "SDHB" "0000072722" "SDHB" "0000072892" "SDHB" "0000072893" "SDHB" "0000072894" "SDHB" "0000072895" "SDHB" "0000072897" "SDHB" "0000072898" "SDHB" "0000072899" "SDHB" "0000072903" "SDHB" "0000072908" "SDHB" "0000072909" "SDHB" "0000072910" "SDHB" "0000072911" "SDHB" "0000072914" "SDHB" "0000072918" "SDHB" "0000072919" "SDHB" "0000072921" "SDHB" "0000072926" "SDHB" "0000072930" "SDHB" "0000072931" "SDHB" "0000072933" "SDHB" "0000072934" "SDHB" "0000072935" "SDHB" "0000072936" "SDHB" "0000072937" "SDHB" "0000072938" "SDHB" "0000072939" "SDHB" "0000072941" "SDHB" "0000072944" "SDHB" "0000072945" "SDHB" "0000072947" "SDHB" "0000072948" "SDHB" "0000072949" "SDHB" "0000072950" "SDHB" "0000072951" "SDHB" "0000072957" "SDHB" "0000072958" "SDHB" "0000072960" "SDHB" "0000072961" "SDHB" "0000072962" "SDHB" "0000072968" "SDHB" "0000072969" "SDHB" "0000072970" "SDHB" "0000072971" "SDHB" "0000072972" "SDHB" "0000072973" "SDHB" "0000072974" "SDHB" "0000072975" "SDHB" "0000072976" "SDHB" "0000072977" "SDHB" "0000072978" "SDHB" "0000072979" "SDHB" "0000072980" "SDHB" "0000072984" "SDHB" "0000072985" "SDHB" "0000072999" "SDHB" "0000073000" "SDHB" "0000073001" "SDHB" "0000073002" "SDHB" "0000073003" "SDHB" "0000073026" "SDHB" "0000073027" "SDHB" "0000073028" "SDHB" "0000073029" "SDHB" "0000073030" "SDHB" "0000073031" "SDHB" "0000073032" "SDHB" "0000073033" "SDHB" "0000073034" "SDHB" "0000073035" "SDHB" "0000073036" "SDHB" "0000073037" "SDHB" "0000073038" "SDHB" "0000073039" "SDHB" "0000073040" "SDHB" "0000073041" "SDHB" "0000073042" "SDHB" "0000073043" "SDHB" "0000073044" "SDHB" "0000073045" "SDHB" "0000073046" "SDHB" "0000073047" "SDHB" "0000073048" "SDHB" "0000073049" "SDHB" "0000073050" "SDHB" "0000073051" "SDHB" "0000073052" "SDHB" "0000073053" "SDHB" "0000073054" "SDHB" "0000073055" "SDHB" "0000073056" "SDHB" "0000073057" "SDHB" "0000073058" "SDHB" "0000073059" "SDHB" "0000073060" "SDHB" "0000073061" "SDHB" "0000073062" "SDHB" "0000073063" "SDHB" "0000073064" "SDHB" "0000073065" "SDHB" "0000073066" "SDHB" "0000073067" "SDHB" "0000073068" "SDHB" "0000073069" "SDHB" "0000073070" "SDHB" "0000073071" "SDHB" "0000073072" "SDHB" "0000073073" "SDHB" "0000073074" "SDHB" "0000073075" "SDHB" "0000073076" "SDHB" "0000073077" "SDHB" "0000073078" "SDHB" "0000073079" "SDHB" "0000073080" "SDHB" "0000073081" "SDHB" "0000073082" "SDHB" "0000073084" "SDHB" "0000073089" "SDHB" "0000073090" "SDHB" "0000073093" "SDHB" "0000073098" "SDHB" "0000073100" "SDHB" "0000073102" "SDHB" "0000073106" "SDHB" "0000073107" "SDHB" "0000073109" "SDHB" "0000073110" "SDHB" "0000073111" "SDHB" "0000073112" "SDHB" "0000073113" "SDHB" "0000073114" "SDHB" "0000073115" "SDHB" "0000073116" "SDHB" "0000073117" "SDHB" "0000073118" "SDHB" "0000073119" "SDHB" "0000073125" "SDHB" "0000073126" "SDHB" "0000073138" "SDHB" "0000073139" "SDHB" "0000073140" "SDHB" "0000073141" "SDHB" "0000073205" "SDHB" "0000073206" "SDHB" "0000073207" "SDHB" "0000073214" "SDHB" "0000073231" "SDHB" "0000073232" "SDHB" "0000073233" "SDHB" "0000073236" "SDHB" "0000073237" "SDHB" "0000073238" "SDHB" "0000073239" "SDHB" "0000073240" "SDHB" "0000073244" "SDHB" "0000073246" "SDHB" "0000073247" "SDHB" "0000073252" "SDHB" "0000073258" "SDHB" "0000073259" "SDHB" "0000073260" "SDHB" "0000073261" "SDHB" "0000079447" "SDHB" "0000079452" "SDHB" "0000079454" "SDHB" "0000079462" "SDHB" "0000079463" "SDHB" "0000079476" "SDHB" "0000079477" "SDHB" "0000079478" "SDHB" "0000079479" "SDHB" "0000079483" "SDHB" "0000079484" "SDHB" "0000079489" "SDHB" "0000079491" "SDHB" "0000079492" "SDHB" "0000079496" "SDHB" "0000079505" "SDHB" "0000079508" "SDHB" "0000079511" "SDHB" "0000079513" "SDHB" "0000079519" "SDHB" "0000079521" "SDHB" "0000079522" "SDHB" "0000079541" "SDHB" "0000079542" "SDHB" "0000079543" "SDHB" "0000079544" "SDHB" "0000079545" "SDHB" "0000079546" "SDHB" "0000079547" "SDHB" "0000079548" "SDHB" "0000079549" "SDHB" "0000079550" "SDHB" "0000079551" "SDHB" "0000079552" "SDHB" "0000079553" "SDHB" "0000079554" "SDHB" "0000079555" "SDHB" "0000079556" "SDHB" "0000079557" "SDHB" "0000079558" "SDHB" "0000079559" "SDHB" "0000079560" "SDHB" "0000079561" "SDHB" "0000079591" "SDHB" "0000080887" "SDHB" "0000089266" "SDHA" "0000089266" "SDHAF1" "0000089266" "SDHAF2" "0000089266" "SDHB" "0000089266" "SDHC" "0000089266" "SDHD" "0000090325" "SDHB" "0000090326" "SDHB" "0000090327" "SDHB" "0000092419" "SDHB" "0000096316" "SDHB" "0000100736" "SDHB" "0000100736" "TMEM127" "0000100736" "VHL" "0000147300" "SDHB" "0000247661" "SDHB" "0000267613" "SDHB" "0000267615" "SDHB" "0000267618" "SDHB" "0000267626" "SDHB" "0000267627" "SDHB" "0000267627" "VHL" "0000267631" "SDHB" "0000267632" "SDHB" "0000267633" "SDHB" "0000267636" "SDHB" "0000398068" "SDHB" "0000398069" "SDHB" "0000398070" "SDHB" "0000398071" "SDHB" "0000398072" "SDHB" "0000431895" "SDHB" "0000432313" "SDHB" "0000436515" "SDHB" "0000445216" "SDHB" ## 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 = 744 "{{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}}" "0000064196" "1" "90" "1" "17371391" "17371391" "subst" "0" "01164" "SDHB_000237" "g.17371391T>C" "" "" "" "(IVS1)" "" "Germline" "" "" "0" "" "" "g.17044896T>C" "" "pathogenic" "" "0000064197" "1" "10" "1" "17371223" "17371223" "subst" "0.0834934" "01164" "SDHB_000030" "g.17371223C>T" "frequency up to 10%" "" "" "" "" "Germline" "" "rs2647169" "0" "" "" "g.17044728C>T" "" "benign" "" "0000064198" "1" "53" "1" "17355272" "17355272" "subst" "1.23534E-5" "01164" "SDHB_000241" "g.17355272G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.17028777G>A" "" "likely benign" "" "0000064199" "1" "55" "1" "17349129" "17349129" "subst" "2.84317E-5" "01164" "SDHB_000242" "g.17349129T>C" "" "" "" "" "Very low Grantham score" "Germline" "" "" "0" "" "" "g.17022634T>C" "" "VUS" "" "0000064200" "1" "90" "1" "17359573" "17359573" "subst" "4.06233E-6" "01164" "SDHB_000001" "g.17359573G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.17033078G>A" "" "pathogenic" "" "0000064201" "1" "10" "1" "17380491" "17380491" "subst" "0.00437221" "01164" "SDHB_000011" "g.17380491G>A" "MAF A=0,007" "" "" "" "" "Germline" "" "rs148738139" "0" "" "" "g.17053996G>A" "" "benign" "" "0000064202" "1" "95" "1" "17350571" "17350571" "subst" "0" "01164" "SDHB_000051" "g.17350571T>C" "" "" "" "(IVS5)" "" "Germline" "" "" "0" "" "" "g.17024076T>C" "" "likely pathogenic" "" "0000064203" "1" "90" "1" "17349165" "17349165" "subst" "0" "01164" "SDHB_000137" "g.17349165G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.17022670G>A" "" "pathogenic" "" "0000116410" "0" "13" "1" "17380653" "17380653" "subst" "0" "01043" "SDHB_000119" "g.17380653C>A" "" "{PMID:Burnichon:19454582}" "" "\'5 UTR" "located in \'5 UTR, Allelic freq controls 1/188; patients 2/646" "Germline" "" "" "0" "" "" "g.17054158C>A" "" "benign" "" "0000116411" "0" "13" "1" "17380653" "17380653" "subst" "0" "01043" "SDHB_000119" "g.17380653C>A" "" "" "" "\'5 UTR" "located in \'5 UTR, Allelic freq controls 1/188; patients 2/646" "Unknown" "" "" "0" "" "" "g.17054158C>A" "" "benign" "" "0000116412" "0" "53" "1" "17380712" "17380712" "subst" "0" "01713" "SDHB_000192" "g.17380712C>T" "" "{PMID:Burnichon:19454582}" "" "5’ UTR" "Allelic freq: controls 1/188; patients 1/646" "Germline" "" "" "0" "" "" "g.17054217C>T" "" "likely benign" "" "0000116413" "0" "55" "1" "17380520" "17380520" "subst" "6.35222E-5" "01645" "SDHB_000149" "g.17380520C>T" "" "" "" "5\' UTR" "" "Unknown" "" "" "0" "" "" "g.17054025C>T" "" "likely benign" "" "0000116414" "0" "77" "1" "17380442" "17380665" "del" "0" "01713" "SDHB_000007" "g.(17371384_17380442)_(17380665_?)del" "" "{PMID:Neumann:19351833}, {PMID: Lodish: 20418362}" "" "Deletion Exon 1" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000116415" "0" "79" "1" "17376556" "17396932" "del" "0" "01713" "SDHB_000132" "g.17376556_17396932del" "" "{PMID:Cascon:18057081},{PMID:Cascon:19258401}" "" "exon 1 deletion (20kb)" "" "Germline" "" "" "0" "" "" "g.17050061_17070437del" "" "pathogenic" "" "0000116416" "0" "77" "1" "17376566" "17396930" "del" "0" "01713" "SDHB_000193" "g.17376566_17396930del" "" "{PMID:Burnichon:19454582}" "" "exon 1 deletion (20kb)" "" "Germline" "?" "" "0" "" "" "g.17050071_17070435del" "" "pathogenic" "" "0000116417" "1" "77" "1" "17375249" "17390927" "del" "0" "01713" "SDHB_000131" "g.17375249_17390927del" "" "{PMID:Solis:19389109}, {PMID:Cascon:16258955}, {PMID:Cascon:18057081}, {PMID:Cascon:19258401}" "" "deletion of exon 1 (16kb)" "15680 bp del incl. exon 1" "Unknown" "" "" "0" "" "" "g.17048754_17064432del" "" "pathogenic" "" "0000116418" "1" "77" "1" "17375249" "17390927" "del" "0" "01713" "SDHB_000131" "g.17375249_17390927del" "" "{PMID:Cascon:16258955}" "" "deletion of SDHB exon 1 (16kb)" "15680 bp del, incl. exon 1" "Unknown" "" "" "0" "" "" "g.17048754_17064432del" "" "pathogenic" "" "0000116419" "1" "77" "1" "17380442" "17380665" "del" "0" "01713" "SDHB_000007" "g.(17371384_17380442)_(17380665_?)del" "" "{PMID:Amar:17652212}, {PMID:McWhinney:15531530}" "" "Deletion Exon 1 (1 kb?)" "0/5 controls" "Germline" "?" "" "0" "" "" "" "" "pathogenic" "" "0000116420" "0" "77" "1" "17380442" "17380665" "del" "0" "01713" "SDHB_000007" "g.(17371384_17380442)_(17380665_?)del" "" "{PMID:Burnichon:19454582}" "" "exon 1 deletion (2.5kb)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000116421" "0" "99" "1" "17371255" "17380665" "del" "0" "01713" "SDHB_000202" "g.(17359641_17371255)_(17380665_?)del" "" "{PMID: Kodama:20379037}" "" "" "deletion of exons 1 + 2" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000116422" "0" "77" "1" "17345217" "17380665" "del" "0" "01713" "SDHB_000087" "g.(?_17345217)_(17380665_?)del" "" "{PMID:Cascon:16258955}" "" "whole SDHB gene deletion" "" "Germline" "?" "" "0" "" "" "" "" "pathogenic" "" "0000116423" "0" "99" "1" "17345217" "17380665" "del" "0" "01713" "SDHB_000167" "g.(?_17345217)_(17380665_?)del" "" "{PMID:Neumann:19351833}" "" "Deletion Exon 1-8" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000116424" "0" "99" "1" "17345217" "17380665" "del" "0" "01713" "SDHB_000196" "g.(?_17345217)_(17380665_?)del" "" "{PMID:Armstrong:19251979}" "" "whole SDHB gene deletion" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000116425" "0" "99" "1" "17380512" "17380512" "subst" "0" "01713" "SDHB_000154" "g.17380512C>T" "" "{PMID:Neumann:19351833}, {PMID:Piccini:22241717}, {PMID:Papathomas:24096523}, PMID:Sjursen:23407919}, {PMID:Bennedbæk:27279923}, {PMID:Main:32688340}" "" "" "" "Germline" "" "" "0" "" "" "g.17054017C>T" "" "likely pathogenic" "" "0000116426" "0" "53" "1" "17380507" "17380507" "subst" "0.00301393" "01713" "SDHB_000130" "g.17380507G>C" "1.1%/8.5%" "{PMID:Ni:18678321}" "" "" "Freq controls 0/1400 chromosomes, tolerated by SIFT analysis, conserved." "Germline" "" "" "0" "" "" "g.17054012G>C" "" "benign" "" "0000116427" "0" "53" "1" "17380507" "17380507" "subst" "0.00301393" "01713" "SDHB_000130" "g.17380507G>C" "1.1%" "Burnichon - submitted" "" "" "Allelic freq: 1134 in gnomAD" "Germline" "" "rs11203289" "0" "" "" "g.17054012G>C" "" "benign" "" "0000116428" "1" "99" "1" "17380482" "17380500" "del" "0" "01713" "SDHB_000109" "g.17380482_17380500del" "" "{PMID:Amar:17652212}" "" "p.Ala6fs" "" "Unknown" "" "" "0" "" "" "g.17053987_17054005del" "" "pathogenic" "" "0000116429" "0" "99" "1" "17380482" "17380500" "del" "0" "01713" "SDHB_000109" "g.17380482_17380500del" "" "{PMID:Burnichon:19454582}" "" "p.Ala6GlyfsX65" "" "Germline" "" "" "0" "" "" "g.17053987_17054005del" "" "pathogenic" "" "0000116430" "0" "53" "1" "17380497" "17380497" "subst" "0.973663" "01713" "SDHB_000008" "g.17380497G>T" "3.5%" "{PMID:Cascon:12362046}, {PMID:McWhinney:15531530}, {PMID:Morris:15220362}, {PMID:Grau:16491957}, {PMID:Brouwers:16912137}, {PMID:Castellano:17102082}, {PMID:Lima: 17848412}" "" "p.Ala6Ala" "" "Germline" "" "" "0" "" "" "g.17054002G>T" "" "benign" "" "0000116431" "21" "99" "1" "17380493" "17380495" "delins" "0" "01655" "SDHB_000191" "g.17380493_17380495delinsG" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.17053998_17054000delinsG" "" "pathogenic" "" "0000116432" "1" "53" "1" "17380494" "17380494" "subst" "0.000454129" "01713" "SDHB_000009" "g.17380494G>A" "" "{PMID:Cascon:12362046}" "" "p.Leu7Leu" "" "Unknown" "" "" "0" "" "" "g.17053999G>A" "" "VUS" "" "0000116433" "0" "77" "1" "17380494" "17380494" "del" "0" "01713" "SDHB_000010" "g.17380494del" "" "{PMID:Neumann:15328326}" "" "155 delC (Frameshift)" "" "Unknown" "" "" "0" "" "" "g.17053999del" "" "pathogenic" "" "0000116434" "1" "53" "1" "17380492" "17380492" "subst" "8.40696E-6" "01713" "SDHB_000059" "g.17380492G>A" "" "{PMID:Castellano:17102082}" "" "S8F" "poorly conserved aa, polymorphism?" "Unknown" "" "" "0" "" "" "g.17053997G>A" "" "likely benign" "" "0000116435" "1" "51" "1" "17380491" "17380491" "subst" "0.00437221" "01713" "SDHB_000011" "g.17380491G>A" "1.0%" "{PMID:Bayley:16405730}" "" "p.Ser8Ser" "" "Unknown" "" "" "0" "" "" "g.17053996G>A" "" "VUS" "" "0000116436" "0" "51" "1" "17380483" "17380483" "subst" "0.000357011" "01713" "SDHB_000141" "g.17380483C>T" "" "{PMID:Ricketts:18728283}" "" "R11H" "0/600 chromosomes" "Germline" "" "" "0" "" "" "g.17053988C>T" "" "likely benign" "" "0000116437" "0" "59" "1" "17380470" "17380471" "dup" "0" "01713" "SDHB_000113" "g.17380470_17380471dup" "" "{PMID:Pasini:17667967}" "" "" "" "Germline" "" "" "0" "" "" "g.17053975_17053976dup" "" "pathogenic" "" "0000116438" "0" "53" "1" "17380466" "17380466" "subst" "0" "01657" "SDHB_000221" "g.17380466T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.17053971T>C" "" "likely benign" "" "0000116439" "0" "99" "1" "17380467" "17380467" "del" "0" "01713" "SDHB_000155" "g.17380467del" "" "{PMID:Neumann:19351833}" "" "" "" "Germline" "" "" "0" "" "" "g.17053972del" "" "pathogenic" "" "0000116440" "0" "13" "1" "17380450" "17380450" "subst" "8.82902E-5" "01713" "SDHB_000215" "g.17380450C>G" "" "{PMID: Baysal:17376234}" "" "C22S" "" "Germline" "" "" "0" "" "" "g.17053955C>G" "" "benign" "" "0000116441" "0" "77" "1" "17380442" "17380442" "subst" "4.19953E-6" "01713" "SDHB_000171" "g.17380442C>T" "" "{PMID:Burnichon:19454582}" "" "Splicesite" "" "Germline" "" "" "0" "" "" "g.17053947C>T" "" "likely pathogenic" "" "0000116442" "0" "77" "1" "17380442" "17380442" "subst" "8.39906E-6" "01713" "SDHB_000065" "g.17380442C>A" "" "{PMID:Benn:16317055}, {PMID:Elston:16472267}, {PMID:Brouwers:16912137}, {PMID:Pasini:17667967}, {PMID:Srirangalingam:18419787}, {PMID: Housley: 20459544}, {PMID: Lodish: 20418362}" "" "(IVS1) Abberant splicing?" "" "Unknown" "" "" "0" "" "" "g.17053947C>A" "" "likely pathogenic" "" "0000116443" "0" "77" "1" "17380442" "17380442" "subst" "8.39906E-6" "01713" "SDHB_000065" "g.17380442C>A" "" "{PMID:Gill:21934479}" "" "" "" "Germline" "" "" "0" "" "" "g.17053947C>A" "" "likely pathogenic" "" "0000116444" "0" "99" "1" "17371380" "17371383" "del" "0" "01713" "SDHB_000156" "g.17371380_17371383del" "" "{PMID:Neumann:19351833}" "" "" "" "Germline" "" "" "0" "" "" "g.17044885_17044888del" "" "pathogenic" "" "0000116445" "0" "77" "1" "17380442" "17380442" "subst" "0" "01713" "SDHB_000205" "g.17380442C>G" "" "{PMID: Ricketts:19802898}" "" "Splice" "" "Germline" "" "" "0" "" "" "g.17053947C>G" "" "likely pathogenic" "" "0000116446" "1" "53" "1" "17371494" "17371494" "subst" "0" "01713" "SDHB_000013" "g.17371494C>T" "36%" "{PMID:Benn:12618761}, {PMID:Opocher:17102081}, {PMID:Castellano:17102082}" "" "(IVS1)" "" "Unknown" "" "" "0" "" "" "g.17044999C>T" "" "likely benign" "" "0000116447" "1" "53" "1" "17371420" "17371420" "del" "0" "01713" "SDHB_000012" "g.17371420del" "1.0%" "{PMID:Benn:12618761}" "" "(IVS1)" "" "Unknown" "" "" "0" "" "" "g.17044925del" "" "VUS" "" "0000116448" "1" "51" "1" "17371392" "17371392" "subst" "0" "01713" "SDHB_000093" "g.17371392T>C" "" "{PMID:Brouwers:16912137}" "" "(IVS1)" "Polymorphism?" "Unknown" "" "" "0" "" "" "g.17044897T>C" "" "likely benign" "" "0000116449" "0" "59" "1" "17345217" "17371384" "del" "0" "01713" "SDHB_000110" "g.(?_17345217)_(17371384_17380442)del" "" "{PMID:Amar:17652212}" "" "Deletion Exon 3-8 (del exon 2-8?)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000116450" "0" "53" "1" "17371377" "17371377" "subst" "4.07644E-5" "01713" "SDHB_000223" "g.17371377G>C" "1.8%" "{PMID:Ni:21979946}" "" "" "" "Germline" "" "" "0" "" "" "g.17044882G>C" "" "likely benign" "" "0000116451" "1" "59" "1" "17371377" "17371377" "subst" "8.15288E-6" "01713" "SDHB_000006" "g.17371377G>A" "" "{PMID:Naito:19415531}, {PMID:Cascon:12362046}, {PMID:Neumann:12000816}, {PMID:Neumann:15328326}, {PMID:Vanharanta:14685938}, {PMID:Klein:18382370}" "" "CGA>TGA (R27X), C213T (Arg>Stop)" "Finland, Spain, LOH in tumor" "Unknown" "" "" "0" "" "" "g.17044882G>A" "" "pathogenic" "" "0000116452" "0" "99" "1" "17371377" "17371377" "subst" "8.15288E-6" "01652" "SDHB_000006" "g.17371377G>A" "" "{PMID: Naito:19415531}" "" "CGA>TGA" "" "Unknown" "" "" "0" "" "" "g.17044882G>A" "" "pathogenic" "" "0000116453" "1" "59" "1" "17371379" "17371379" "del" "0" "01713" "SDHB_000014" "g.17371379del" "" "{PMID:Badenhop:15235042}" "" "79delC/S26fs" "" "Unknown" "" "" "0" "" "" "g.17044884del" "" "pathogenic" "" "0000116454" "1" "53" "1" "17371366" "17371368" "dup" "0" "01713" "SDHB_000015" "g.17371366_17371368dup" "" "{PMID:Neumann:12000816}" "" "221ins CAG (Codon 29, ins to Gln)" "poorly conserved region" "Unknown" "" "" "0" "" "" "g.17044871_17044873dup" "" "VUS" "" "0000116455" "1" "77" "1" "17371368" "17371369" "ins" "0" "01713" "SDHB_000016" "g.17371368_17371369insCTGG" "" "{PMID:Neumann:15328326}" "" "221insCCAG (Frameshift)" "" "Unknown" "" "" "0" "" "" "g.17044873_17044874insCTGG" "" "pathogenic" "" "0000116456" "1" "59" "1" "17371370" "17371370" "del" "0" "01713" "SDHB_000017" "g.17371370del" "" "{PMID:Benn:12618761}" "" "c.88delC (Frameshift)" "" "Germline" "" "" "0" "" "" "g.17044875del" "" "pathogenic" "" "0000116457" "1" "59" "1" "17371370" "17371370" "del" "0" "01713" "SDHB_000017" "g.17371370del" "" "{PMID:Prasad 2009:19596260}" "" "c.88delC (Frameshift)" "" "Unknown" "" "" "0" "" "" "g.17044875del" "" "pathogenic" "" "0000116458" "0" "59" "1" "17371370" "17371370" "del" "0" "01713" "SDHB_000017" "g.17371370del" "" "{PMID:Burnichon:19454582}" "" "p.Gln30ArgfsX7" "" "Germline" "" "" "0" "" "" "g.17044875del" "" "pathogenic" "" "0000116459" "0" "99" "1" "17371343" "17371344" "ins" "0" "01713" "SDHB_000218" "g.17371343_17371344ins2?" "" "{PMID: Lodish:20418362}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000116460" "0" "77" "1" "17371338" "17371338" "subst" "0" "01713" "SDHB_000018" "g.17371338T>C" "" "{PMID:McDonnell:15473885}" "" "c.118A>G (K40E)" "0/50 controls, highly conserved" "Unknown" "" "" "0" "" "" "g.17044843T>C" "" "likely pathogenic" "" "0000116461" "0" "97" "1" "17371329" "17371329" "subst" "0" "01713" "SDHB_000019" "g.17371329C>G" "" "{PMID:Gimenez-Roqueplo:14500403 }, {PMID:Amar:17652212}" "" "g261c (A43P)" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). IHC SDHB negative, SDH activity=0 in one case of 4 reported from France. Strong functional but weak in silico evidence." "Germline" "?" "" "0" "" "" "g.17044834C>G" "" "likely pathogenic" "" "0000116462" "0" "93" "1" "17371329" "17371329" "subst" "0" "01713" "SDHB_000019" "g.17371329C>G" "" "{PMID:Burnichon:19454582}" "" "p.Ala43Pro" "" "Germline" "" "" "0" "" "" "g.17044834C>G" "" "likely benign" "" "0000116463" "0" "77" "1" "17371325" "17371325" "subst" "0" "01713" "SDHB_000229" "g.17371325A>T" "" "{PMID:Celestino:22160509}" "" "c.T282A—Ile44Asn" "" "Germline" "" "" "0" "" "" "g.17044830A>T" "" "likely pathogenic" "" "0000116464" "1" "99" "1" "17371320" "17371320" "subst" "0" "01713" "SDHB_000020" "g.17371320G>C" "" "{PMID:Neumann:15328326}, {PMID:Neumann:12000816}, {PMID:Gimenez-Roqueplo:14500403}" "" "270C/G (Arg>Gly), C270G (R46G)" "0/300 controls" "Unknown" "" "" "0" "" "" "g.17044825G>C" "" "pathogenic" "" "0000116465" "0" "99" "1" "17371320" "17371320" "subst" "0" "01713" "SDHB_000020" "g.17371320G>C" "" "{PMID:Burnichon:19454582}" "" "p.Arg46Gly" "" "Germline" "" "" "0" "" "" "g.17044825G>C" "" "pathogenic" "" "0000116466" "1" "59" "1" "17371320" "17371320" "subst" "1.6253E-5" "01713" "SDHB_000021" "g.17371320G>A" "" "{PMID:Benn:12618761}, {PMID:Benn:16317055}, {PMID:Bayley:16405730}, {PMID:Brouwers:16912137}, {PMID:Srirangalingam:18419787}, {PMID:Ricketts:18728283}, {PMID:Ghayee:19075037}, {PMID: Lodish:20418362}" "" "c.136C>T (R46X)" "" "Unknown" "" "" "0" "" "" "g.17044825G>A" "" "pathogenic" "" "0000116467" "0" "77" "1" "17371320" "17371320" "subst" "1.6253E-5" "01713" "SDHB_000021" "g.17371320G>A" "" "{PMID:Burnichon:19454582}, {PMID: Timmers:18840642}" "" "p.Arg46X" "" "Germline" "" "" "0" "" "" "g.17044825G>A" "" "pathogenic" "" "0000116468" "1" "79" "1" "17371319" "17371319" "subst" "4.06299E-6" "01713" "SDHB_000022" "g.17371319C>T" "" "{PMID:Gimenez-Roqueplo:14500403}, {PMID:Gimenez-Roqueplo:12364472}, {PMID:Allibhai:15371856}, {PMID:Benn:12618761}, {PMID:Amar:16314641}, {PMID:Benn:16317055}, {PMID:Castellano:17102082}, {PMID:Takekoshi:18362451}" "" "g271a (R46Q), c.137G>A (R46Q)" "0/50 controls, Italy, and other countries" "Unknown" "" "" "0" "" "" "g.17044824C>T" "" "pathogenic" "" "0000116469" "0" "79" "1" "17371319" "17371319" "subst" "4.06299E-6" "01713" "SDHB_000022" "g.17371319C>T" "" "{PMID:Burnichon:19454582}, {PMID: Timmers:18840642}" "" "p.Arg46Gln" "" "Germline" "" "" "0" "" "" "g.17044824C>T" "" "pathogenic" "" "0000116470" "1" "59" "1" "17371315" "17371315" "subst" "0" "01713" "SDHB_000023" "g.17371315C>T" "" "{PMID:Bayley:16405730}, {PMID:Srirangalingam:18419787}, {PMID:Tuthill:21686655}" "" "" "" "Unknown" "" "" "0" "" "" "g.17044820C>T" "" "pathogenic" "" "0000116471" "1" "53" "1" "17371299" "17371299" "subst" "0" "01713" "SDHB_000024" "g.17371299C>T" "" "{PMID:Neumann:15328326}" "" "291G/A (Gly53>Arg)" "0/300 controls" "Unknown" "" "" "0" "" "" "g.17044804C>T" "" "likely pathogenic" "" "0000116472" "0" "33" "1" "17371298" "17371298" "subst" "0.000536258" "01713" "SDHB_000214" "g.17371298C>T" "0.14%" "{PMID: Ricketts:19802898}, {PMID:Burnichon:20923864}" "" "" "France (tumor SDHB IHC pos+). Found 139 times in gnomAD" "Germline" "" "" "0" "" "" "g.17044803C>T" "" "likely benign" "" "0000116473" "1" "59" "1" "17371287" "17371291" "del" "0" "01713" "SDHB_000025" "g.17371287_17371291del" "" "{PMID:Cascon:19258401}, {PMID:Amar:17652212}, {PMID:Neumann:15328326}, {PMID:Mora:16304664}, {PMID:Klein:18382370}, {PMID:Persu:18551016}, {PMID: Hermsen:20208144}" "" "300-4 del CCTCA (Frameshift)" "" "Unknown" "" "" "0" "" "" "g.17044792_17044796del" "" "pathogenic" "" "0000116474" "0" "59" "1" "17371287" "17371291" "del" "0" "01713" "SDHB_000025" "g.17371287_17371291del" "" "{PMID:Burnichon:19454582}" "" "p.Pro56TyrfsX5" "" "Germline" "" "" "0" "" "" "g.17044792_17044796del" "" "pathogenic" "" "0000116475" "0" "77" "1" "17371287" "17371291" "del" "0" "01713" "SDHB_000025" "g.17371287_17371291del" "" "{PMID:Gill:21934479}" "" "" "" "Germline" "?" "" "0" "" "" "g.17044792_17044796del" "" "pathogenic" "" "0000116476" "0" "77" "1" "17371289" "17371289" "subst" "0" "01713" "SDHB_000066" "g.17371289G>A" "" "{PMID:Benn:16317055}, {PMID:Amar:17652212}" "" "P56L" "" "Unknown" "" "" "0" "" "" "g.17044794G>A" "" "likely pathogenic" "" "0000116477" "0" "77" "1" "17371289" "17371289" "subst" "0" "01713" "SDHB_000066" "g.17371289G>A" "" "{PMID:Burnichon:19454582}" "" "p.Pro56Leu" "" "Germline" "" "" "0" "" "" "g.17044794G>A" "" "likely pathogenic" "" "0000116478" "0" "11" "1" "17371286" "17371286" "subst" "0.00065001" "01713" "SDHB_000216" "g.17371286T>C" "2.1%" "{PMID: Baysal:17376234}" "" "H57R" "Found 233 times in gnomAD" "Germline" "" "" "0" "" "" "g.17044791T>C" "" "benign" "" "0000116479" "1" "59" "1" "17371281" "17371282" "delins" "0" "01713" "SDHB_000026" "g.17371281_17371282delinsAA" "" "{PMID:Baysal:11897817}" "" "c.174-175GC>TT (Q59X)" "" "Unknown" "" "" "0" "" "" "g.17044786_17044787delinsAA" "" "pathogenic" "" "0000116480" "0" "99" "1" "17371273" "17371273" "subst" "0" "01713" "SDHB_000219" "g.17371273A>C" "" "{PMID: Lodish:20418362}" "" "" "" "Germline" "" "" "0" "" "" "g.17044778A>C" "" "pathogenic" "" "0000116481" "1" "55" "1" "17371262" "17371262" "subst" "0" "01713" "SDHB_000027" "g.17371262A>T" "" "{PMID:Benn:12618761}" "" "c.194T>A (L65H)" "Moderately conserved, c.200+3G>C (proven abberant splicing) and p.Leu65His found together, 0/50 controls" "Germline" "" "" "0" "" "" "g.17044767A>T" "" "VUS" "" "0000116482" "1" "77" "1" "17371262" "17371262" "subst" "0" "01713" "SDHB_000028" "g.17371262A>G" "" "{PMID:Neumann:15328326}" "" "328 T/C ( Leu>Pro)" "Not reported in gnomAD. Found in four German patients from 3 separate families" "Germline" "?" "" "0" "" "" "g.17044767A>G" "" "likely pathogenic" "" "0000116483" "0" "57" "1" "17371255" "17371255" "subst" "0" "01713" "SDHB_000172" "g.17371255C>T" "" "{PMID:Burnichon:19454582}" "" "Splicesite" "LOH at SDHB locus; SDHB protein expression=0; exon 2 skipping" "Germline" "" "" "0" "" "" "g.17044760C>T" "" "pathogenic" "" "0000116484" "0" "97" "1" "17371255" "17371255" "subst" "0" "01655" "SDHB_000165" "g.17371255C>G" "" "" "" "(IVS2) Abberant splicing?" "" "Unknown" "" "" "0" "" "" "g.17044760C>G" "" "pathogenic" "" "0000116485" "2" "59" "1" "17371253" "17371253" "subst" "0" "01713" "SDHB_000029" "g.17371253C>G" "" "{PMID:Benn:12618761}" "" "(IVS2) Abberant splicing?" "c.200+3G>C (proven abberant splicing) and p.Leu65His found together, 0/50 controls" "Unknown" "" "" "0" "" "" "g.17044758C>G" "" "VUS" "" "0000116486" "0" "55" "1" "17371249" "17371249" "subst" "3.25142E-5" "01713" "SDHB_000203" "g.17371249T>C" "" "{PMID: Majumdar:19927285}" "" "splicesite?" "No evidence of mis-splicing provided" "Germline" "" "" "0" "" "" "g.17044754T>C" "" "VUS" "" "0000116487" "1" "33" "1" "17371223" "17371223" "subst" "0.0834934" "01713" "SDHB_000031" "g.17371223C>T" "-0" "{PMID:Morris:15220362}" "" "(IVS2)" "" "Unknown" "" "" "0" "" "" "g.17044728C>T" "" "VUS" "" "0000116488" "1" "53" "1" "17371223" "17371223" "subst" "0.0834934" "01713" "SDHB_000030" "g.17371223C>T" "11%" "{PMID:Benn:12618761}, {PMID:Opocher:17102081}" "" "(IVS2)" "" "Unknown" "" "" "0" "" "" "g.17044728C>T" "" "VUS" "" "0000116489" "1" "53" "1" "17371221" "17371221" "subst" "0.02705" "01713" "SDHB_000032" "g.17371221C>T" "-0" "{PMID:Morris:15220362}, {PMID:Castellano:17102082}" "" "(IVS2)" "" "Unknown" "" "" "0" "" "" "g.17044726C>T" "" "VUS" "" "0000116490" "0" "99" "1" "17356165" "17364069" "del" "0" "01713" "SDHB_000195" "g.17356165_17364069del" "" "{PMID:Bayley:19368708;}" "" "c.201-4429_287-933del" "Del exon 1 to 3, founder deletion" "Germline" "" "" "0" "" "" "g.17029671_17037575del" "" "pathogenic" "" "0000116491" "0" "99" "1" "17359641" "17359641" "subst" "0" "01713" "SDHB_000174" "g.17359641C>T" "" "{PMID:Burnichon:19454582}" "" "Splicesite" "exon 3 skipping" "Germline" "" "" "0" "" "" "g.17033146C>T" "" "pathogenic" "" "0000116492" "0" "99" "1" "17359554" "17359641" "del" "0" "01713" "SDHB_000197" "g.(17355232_17359554)_(17359641_17371255)del" "" "{PMID:Sevilla:19393419}" "" "Deletion Exon 3" "this deletion is distinct from Dutch ex3 del" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000116493" "0" "99" "1" "17359554" "17359641" "del" "0" "01648" "SDHB_000151" "g.(17355232_17359554)_(17359641_17371255)del" "" "" "" "Deletion of exon 3 (c.196-?_268+?del)" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000116494" "0" "99" "1" "17359554" "17359641" "del" "0" "01713" "SDHB_000168" "g.(17355232_17359554)_(17359641_17371255)del" "" "{PMID:Neumann:19351833}" "" "Deletion Exon 3" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000116495" "0" "57" "1" "17359554" "17359641" "del" "0" "01713" "SDHB_000168" "g.(17355232_17359554)_(17359641_17371255)del" "" "{PMID:Burnichon:19454582}" "" "exon 3 deletion" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000116496" "0" "99" "1" "17359554" "17359641" "del" "0" "01713" "SDHB_000201" "g.(17355232_17359554)_(17359641_17371255)del" "" "{PMID: Hermsen:20208144}" "" "" "Exon 3 deletion" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000116497" "0" "99" "1" "17359554" "17359641" "dup" "0" "01713" "SDHB_000170" "g.(17355232_17359554)_(17359641_17371255)dup" "" "{PMID:Neumann:19351833}" "" "Duplication Exon 3" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000116498" "0" "77" "1" "17345217" "17359641" "del" "0" "01713" "SDHB_000173" "g.(?_17345217)_(17359641_17371255)del" "" "{PMID:Burnichon:19454582}" "" "exons 3 to 8 deletion" "SDHB protein expression=0" "Germline" "?" "" "0" "" "" "" "" "pathogenic" "" "0000116499" "0" "77" "1" "17359638" "17359638" "subst" "0" "01043" "SDHB_000116" "g.17359638C>T" "" "" "" "" "Unclassified variant" "Unknown" "" "" "0" "" "" "g.17033143C>T" "" "pathogenic" "" "0000116500" "0" "77" "1" "17359635" "17359635" "subst" "0" "01713" "SDHB_000175" "g.17359635C>A" "" "{PMID:Burnichon:19454582}" "" "p.Gly69Val" "" "Germline" "" "" "0" "" "" "g.17033140C>A" "" "likely pathogenic" "" "0000116501" "1" "59" "1" "17359634" "17359634" "dup" "0" "01713" "SDHB_000036" "g.17359634dup" "" "{PMID:Baysal:11897817}" "" "c.207-210insC (M71fsX80)" "" "Unknown" "" "" "0" "" "" "g.17033139dup" "" "pathogenic" "" "0000116502" "0" "99" "1" "17359623" "17359623" "subst" "0" "01654" "SDHB_000138" "g.17359623A>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.17033128A>T" "" "pathogenic" "" "0000116503" "0" "57" "1" "17359603" "17359603" "subst" "0" "01713" "SDHB_000157" "g.17359603T>C" "" "{PMID:Neumann:19351833}" "" "" "Highly conserved AA" "Germline" "" "" "0" "" "" "g.17033108T>C" "" "likely pathogenic" "" "0000116504" "1" "77" "1" "17359581" "17359581" "subst" "0" "01713" "SDHB_000037" "g.17359581A>G" "" "{PMID:Astuti:11404820}, {PMID:Neumann:15328326}, {PMID:Bauters:12807974}" "" "394T-->C (L88S), 394T/C (L87S),c.263T>C(L88S)" "Found in multiple patients, 0/300 controls, 1/100 controls" "Unknown" "" "" "0" "" "" "g.17033086A>G" "" "likely pathogenic" "" "0000116505" "0" "77" "1" "17359581" "17359581" "subst" "0" "01713" "SDHB_000037" "g.17359581A>G" "" "{PMID:Burnichon:19454582}" "" "p.Leu87Ser" "" "Germline" "" "" "0" "" "" "g.17033086A>G" "" "pathogenic" "" "0000116506" "1" "99" "1" "17359573" "17359573" "subst" "4.06233E-6" "01713" "SDHB_000001" "g.17359573G>A" "" "{PMID:Amar:17652212}, {PMID:Astuti:11404820}, {PMID:Benn:12618761}, {PMID:Amar:16314641}, {PMID:Benn:16317055}, {PMID:Klein:18382370}, {PMID:Srirangalingam:18419787}, {PMID: Alzahrani:20061288}" "" "402C-->T (R91X)" "Sweden, 0/100 controls" "Unknown" "" "" "0" "" "" "g.17033078G>A" "" "pathogenic" "" "0000116507" "0" "99" "1" "17359573" "17359573" "subst" "4.06233E-6" "01713" "SDHB_000001" "g.17359573G>A" "" "{PMID:Burnichon:19454582}" "" "p.Arg90X" "" "Germline" "" "" "0" "" "" "g.17033078G>A" "" "pathogenic" "" "0000116508" "11" "95" "1" "17359573" "17359573" "subst" "4.06233E-6" "01657" "SDHB_000001" "g.17359573G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.17033078G>A" "" "pathogenic" "" "0000116509" "0" "99" "1" "17359573" "17359573" "subst" "4.06233E-6" "01713" "SDHB_000001" "g.17359573G>A" "" "{PMID:Gill:21934479}" "" "" "" "Germline" "" "" "0" "" "" "g.17033078G>A" "" "pathogenic" "" "0000116510" "1" "57" "1" "17359572" "17359572" "subst" "8.12473E-6" "01713" "SDHB_000099" "g.17359572C>T" "" "{PMID:Castellano:17102082}, {PMID: Hermsen:20208144}" "" "R90Q" "" "Unknown" "" "" "0" "" "" "g.17033077C>T" "" "likely pathogenic" "" "0000116511" "0" "55" "1" "17359572" "17359572" "subst" "8.12473E-6" "01655" "SDHB_000099" "g.17359572C>T" "" "" "" "R90Q" "" "Unknown" "" "" "0" "" "" "g.17033077C>T" "" "likely pathogenic" "" "0000116512" "1" "57" "1" "17359564" "17359564" "subst" "0" "01648" "SDHB_000106" "g.17359564A>G" "" "{PMID:Lima:17848412}, {PMID:Sevilla:19393419}" "" "" "Affects highly conserved Fe-S cluster" "Unknown" "" "" "0" "" "" "g.17033069A>G" "" "likely pathogenic" "" "0000116513" "0" "55" "1" "17359563" "17359563" "subst" "0" "01713" "SDHB_000146" "g.17359563C>T" "" "{PMID:Cascon:19258401}" "" "" "affects highly conserved Fe-S cluster" "Germline" "" "" "0" "" "" "g.17033068C>T" "" "likely pathogenic" "" "0000116514" "0" "55" "1" "17359560" "17359560" "subst" "0" "01713" "SDHB_000039" "g.17359560C>T" "" "{PMID:Bayley:16405730}" "" "" "Arg conserved in Escherichia coli, Vibrio cholerae, Mycobacterium bovis, Bacillus subtilis. Affects highly conserved Fe-S cluster, but Arg and Lys both polar & charged, very low Grantham score (26). VUS in opinion of curator" "Germline" "" "" "0" "" "" "g.17033065C>T" "" "VUS" "" "0000116515" "0" "79" "1" "17359559" "17359560" "ins" "0" "01713" "SDHB_000206" "g.17359559_17359560insAAGT" "" "{PMID: Ricketts:19802898}" "" "" "" "Germline" "" "" "0" "" "" "g.17033064_17033065insAAGT" "" "pathogenic" "" "0000116516" "0" "79" "1" "17359557" "17359557" "del" "0" "01713" "SDHB_000143" "g.17359557del" "" "{PMID: Meyer-Rochow:19215943}" "" "p.Glu95AspfsX8" "" "Germline" "" "" "0" "" "" "g.17033062del" "" "pathogenic" "" "0000116517" "0" "77" "1" "17359555" "17359555" "subst" "1.21907E-5" "01713" "SDHB_000207" "g.17359555C>T" "" "{PMID: Ricketts:19802898}" "" "" "affects splicing." "Germline" "" "" "0" "" "" "g.17033060C>T" "" "likely pathogenic" "" "0000116518" "1" "77" "1" "17359554" "17359554" "subst" "0" "01645" "SDHB_000091" "g.17359554C>T" "" "{PMID:Brouwers:16912137}, {PMID:Mannelli:17102085}" "" "(IVS3) Aberrant splicing?" "" "Unknown" "?" "" "0" "" "" "g.17033059C>T" "" "likely pathogenic" "" "0000116519" "1" "57" "1" "17359553" "17359553" "subst" "0" "01713" "SDHB_000092" "g.17359553A>T" "" "{PMID:Brouwers:16912137}, {PMID:Ghayee:19075037}" "" "(IVS3) Aberrant splicing?" "" "Germline" "" "" "0" "" "" "g.17033058A>T" "" "VUS" "" "0000116520" "0" "57" "1" "17355232" "17355232" "subst" "0" "01713" "SDHB_000103" "g.17355232C>G" "" "{PMID:Klein:18382370}" "" "" "" "Germline" "" "" "0" "" "" "g.17028737C>G" "" "likely pathogenic" "" "0000116521" "1" "57" "1" "17355233" "17355233" "subst" "0" "01713" "SDHB_000040" "g.17355233T>C" "" "{PMID:Neumann:15328326}" "" "(IVS3) Aberrant splicing?" "" "Germline" "" "" "0" "" "" "g.17028738T>C" "" "likely pathogenic" "" "0000116522" "0" "57" "1" "17355233" "17355233" "subst" "0" "01713" "SDHB_000040" "g.17355233T>C" "" "{PMID:Burnichon:19454582}" "" "Splicesite" "" "Germline" "" "" "0" "" "" "g.17028738T>C" "" "likely pathogenic" "" "0000116523" "1" "57" "1" "17355232" "17355232" "subst" "0" "01713" "SDHB_000103" "g.17355232C>G" "" "{PMID:Timmers HJ:17200167}" "" "(IVS3) Aberrant splicing?" "" "Germline" "" "" "0" "" "" "g.17028737C>G" "" "likely pathogenic" "" "0000116524" "0" "77" "1" "17355231" "17355231" "subst" "8.13087E-6" "01713" "SDHB_000067" "g.17355231C>T" "" "{PMID:Benn:16317055}, {PMID:Brouwers:16912137}, {PMID: Timmers: 18840642}" "" "G96D" "affects highly conserved Fe-S cluster" "Germline" "" "" "0" "" "" "g.17028736C>T" "" "likely pathogenic" "" "0000116525" "0" "57" "1" "17355226" "17355226" "subst" "0" "01713" "SDHB_000068" "g.17355226A>G" "" "{PMID:Srirangalingam 2008:18419787}" "" "C98R" "Cys conserved in Escherichia coli, Vibrio cholerae, Mycobacterium bovis, Bacillus subtilis" "Germline" "" "" "0" "" "" "g.17028731A>G" "" "likely pathogenic" "" "0000116526" "0" "57" "1" "17355226" "17355226" "subst" "0" "01713" "SDHB_000068" "g.17355226A>G" "" "{PMID:Benn 2006:16317055}" "" "C98R" "affects highly conserved Fe-S cluster" "Germline" "" "" "0" "" "" "g.17028731A>G" "" "likely pathogenic" "" "0000116527" "1" "77" "1" "17355225" "17355225" "subst" "0" "01648" "SDHB_000069" "g.17355225C>T" "" "{PMID:Benn:16317055} Garcia-Rostan" "" "C98Y" "affects highly conserved Fe-S cluster. Cys conserved in Escherichia coli, Vibrio cholerae, Mycobacterium bovis, Bacillus subtilis" "Germline" "?" "" "0" "" "" "g.17028730C>T" "" "likely pathogenic" "" "0000116528" "1" "57" "1" "17355222" "17355222" "subst" "0" "01713" "SDHB_000070" "g.17355222C>T" "" "{PMID:Benn:16317055}" "" "G99D" "affects highly conserved Fe-S cluster" "Germline" "" "" "0" "" "" "g.17028727C>T" "" "likely pathogenic" "" "0000116529" "0" "99" "1" "17355221" "17355221" "del" "0" "01713" "SDHB_000208" "g.17355221del" "" "{PMID: Ricketts:19802898}" "" "" "" "Germline" "" "" "0" "" "" "g.17028726del" "" "pathogenic" "" "0000116530" "1" "57" "1" "17355220" "17355220" "subst" "0" "01713" "SDHB_000089" "g.17355220A>G" "" "{PMID:Pollard:15987702}" "" "298T>C (S100P)" "Align GVGD: Class C65 (most likely to affect function). Small polar AA to largeer non polar AA. Highly conserved, low to medium Grantham score (74). Located in highly conserved 2Fe-2S binding region. conserved in Escherichia coli, Vibrio cholerae, Mycobacterium bovis. Likely pathogenic in opinion of curator." "Germline" "" "" "0" "" "" "g.17028725A>G" "" "likely pathogenic" "" "0000116531" "0" "17" "1" "17355219" "17355219" "subst" "0" "01649" "SDHB_000111" "g.17355219G>A" "" "{PMID:Korpershoek:17634472}, {PMID:van Nederveen:17634472}" "" "" "Align GVGD: Class C65 (most likely to affect function). Small polar AA to large polar AA. Highly conserved, v. high Grantham score (155). Located in highly conserved 2Fe-2S binding region. Gly conserved in Escherichia coli, Vibrio cholerae, Mycobacterium bovis. Pathogenic/likely pathogenic in opinion of curator." "Somatic" "" "" "0" "" "" "g.17028724G>A" "" "likely pathogenic" "" "0000116532" "1" "53" "1" "17355218" "17355218" "subst" "0.00175074" "01642" "SDHB_000063" "g.17355218A>G" "" "{PMID:Brouwers:16912137}, {PMID:Lima:17848412}" "" "p.Ser100Ser" "" "Unknown" "" "" "0" "" "" "g.17028723A>G" "" "VUS" "" "0000116533" "0" "53" "1" "17355218" "17355218" "subst" "0.00175074" "01713" "SDHB_000063" "g.17355218A>G" "" "{PMID:Burnichon:19454582}" "" "p.Ser100Ser" "Allelic freq: controls 1/200; patients 0/648" "Germline" "" "" "0" "" "" "g.17028723A>G" "" "VUS" "" "0000116534" "1" "57" "1" "17355216" "17355216" "subst" "0" "01713" "SDHB_000041" "g.17355216C>T" "" "{PMID:Neumann:15328326}, {PMID:Neumann:12000816}" "" "436 G/A (Cys101>Tyr)" "0/300 controls, affects highly conserved Fe-S cluster" "Germline" "" "" "0" "" "" "g.17028721C>T" "" "likely pathogenic" "" "0000116535" "1" "57" "1" "17355207" "17355207" "delins" "0" "01713" "SDHB_000071" "g.17355207delinsCC" "" "{PMID:Benn:16317055}" "" "N104fsX118" "" "Germline" "" "" "0" "" "" "g.17028712delinsCC" "" "pathogenic" "" "0000116536" "1" "59" "1" "17355205" "17355206" "ins" "0" "01648" "SDHB_000101" "g.17355205_17355206insTGCAGTG" "" "{PMID:Lima:17848412}, {PMID:Sevilla:19393419}" "" "" "" "Unknown" "" "" "0" "" "" "g.17028710_17028711insTGCAGTG" "" "pathogenic" "" "0000116537" "0" "55" "1" "17355204" "17355206" "del" "0" "01713" "SDHB_000176" "g.17355204_17355206del" "" "{PMID:Burnichon:19454582}" "" "p.Ile105del" "" "Germline" "" "" "0" "" "" "g.17028709_17028711del" "" "VUS" "" "0000116538" "0" "77" "1" "17355185" "17355195" "del" "0" "01713" "SDHB_000209" "g.17355185_17355195del" "" "{PMID: Ricketts:19802898}" "" "" "" "Germline" "" "" "0" "" "" "g.17028690_17028700del" "" "likely pathogenic" "" "0000116539" "0" "75" "1" "17355190" "17355190" "subst" "0" "01713" "SDHB_000158" "g.17355190T>G" "" "{PMID:Neumann:19351833}" "" "" "Conserved, highly conserved region, polar to nonpolar Proline AA, v. low Grantham score (38). Leiden family (6 carriers) with 3 affected members." "Germline" "" "" "0" "" "" "g.17028695T>G" "" "likely pathogenic" "" "0000116540" "0" "59" "1" "17355188" "17355189" "del" "0" "01713" "SDHB_000177" "g.17355188_17355189del" "" "{PMID:Burnichon:19454582}" "" "Leu111SerfsX7" "" "Germline" "" "" "0" "" "" "g.17028693_17028694del" "" "pathogenic" "" "0000116541" "0" "77" "1" "17355187" "17355187" "subst" "0" "01713" "SDHB_000227" "g.17355187G>C" "" "{PMID:Peck:22109756}" "" "Leu111Val" "Conserved, nonpolar to nonpolar AA, conserved in Escherichia coli, Vibrio cholerae, Mycobacterium bovis, but only 32 Grantham. VUS in opinion of curator" "Germline" "" "" "0" "" "" "g.17028692G>C" "" "VUS" "" "0000116542" "0" "77" "1" "17355180" "17355180" "subst" "0" "01713" "SDHB_000210" "g.17355180C>T" "" "{PMID: Ricketts:19802898}" "" "" "" "Germline" "" "" "0" "" "" "g.17028685C>T" "" "likely pathogenic" "" "0000116543" "0" "77" "1" "17355175" "17355175" "subst" "8.12236E-6" "01713" "SDHB_000042" "g.17355175G>A" "" "{PMID:Timmers HJ 2007:17200167}" "" "R115X" "" "Germline" "" "" "0" "" "" "g.17028680G>A" "" "pathogenic" "" "0000116544" "0" "77" "1" "17355175" "17355175" "subst" "8.12236E-6" "01713" "SDHB_000042" "g.17355175G>A" "" "{PMID:Benn 2006:16317055}" "" "R115X" "" "Germline" "" "" "0" "" "" "g.17028680G>A" "" "pathogenic" "" "0000116545" "0" "77" "1" "17355175" "17355175" "subst" "8.12236E-6" "01713" "SDHB_000042" "g.17355175G>A" "" "{PMID:Bayley 2006:16405730}" "" "R115X" "" "Germline" "" "" "0" "" "" "g.17028680G>A" "" "pathogenic" "" "0000116546" "0" "99" "1" "17355175" "17355175" "subst" "8.12236E-6" "01653" "SDHB_000042" "g.17355175G>A" "" "" "" "R115X" "" "Unknown" "" "" "0" "" "" "g.17028680G>A" "" "pathogenic" "" "0000116547" "0" "55" "1" "17355159" "17355159" "subst" "0" "01713" "SDHB_000224" "g.17355159T>C" "" "{PMID:Ni:21979946}" "" "" "Align GVGD: Class C45 (less likely to affect function). Small nonpolar AA to charged polar AA. Poorly conserved, low Grantham score (46). VUS/Likely benign in opinion of curator." "Germline" "" "" "0" "" "" "g.17028664T>C" "" "likely benign" "" "0000116548" "1" "59" "1" "17355148" "17355149" "ins" "0" "01713" "SDHB_000033" "g.17355148_17355149insT" "" "{PMID:Timmers HJ:17200167}" "" "" "" "Germline" "" "" "0" "" "" "g.17028653_17028654insT" "" "pathogenic" "" "0000116549" "0" "97" "1" "17355143" "17355143" "dup" "0" "01713" "SDHB_000211" "g.17355143dup" "" "{PMID: Ricketts:19802898}" "" "" "" "Germline" "" "" "0" "" "" "g.17028648dup" "" "pathogenic" "" "0000116550" "1" "55" "1" "17355138" "17355138" "subst" "0" "01713" "SDHB_000043" "g.17355138A>T" "" "{PMID:Astuti:14974914}" "" "c.380T>A (I127N)" "Conserved, borders highly conserved region, changes nonpolar to uncharged polar AA" "Germline" "" "" "0" "" "" "g.17028643A>T" "" "likely pathogenic" "" "0000116551" "1" "57" "1" "17355138" "17355138" "subst" "1.21839E-5" "01713" "SDHB_000072" "g.17355138A>C" "" "{PMID:Benn:16317055}, {PMID:Pollard:15987702}, {PMID:Bayley: 16405730}, {PMID:Brouwers: 16912137}, {PMID:Bolland: 16916404}, {PMID: Timmers: 18840642}, {PMID:Collins:21820839}" "" "I127S" "" "Germline" "" "" "0" "" "" "g.17028643A>C" "" "likely pathogenic" "" "0000116552" "1" "55" "1" "17355126" "17355126" "subst" "0" "01713" "SDHB_000044" "g.17355126G>C" "" "{PMID:Baysal:11897817}" "" "c.392C>G. (P131R)" "Nonpolar AA to large charged polar AA. Conserved in Escherichia coli, Vibrio cholerae" "Germline" "" "" "0" "" "" "g.17028631G>C" "" "likely pathogenic" "" "0000116553" "1" "59" "1" "17355127" "17355127" "del" "0" "01713" "SDHB_000045" "g.17355127del" "" "{PMID:Zantour:15476441}, {PMID:Benn:16317055}, {PMID:Brouwers: 16912137}" "" "392delC (P131fsX135)" "" "Germline" "" "" "0" "" "" "g.17028632del" "" "pathogenic" "" "0000116554" "0" "59" "1" "17355127" "17355127" "del" "0" "01713" "SDHB_000045" "g.17355127del" "" "{PMID:Burnichon:19454582}" "" "p.Pro131HisfsX5" "" "Germline" "" "" "0" "" "" "g.17028632del" "" "pathogenic" "" "0000116555" "1" "55" "1" "17355123" "17355123" "subst" "0" "01713" "SDHB_000046" "g.17355123T>G" "" "{PMID:Maier-Woelfle:14715873}" "" "a>c (H132P)" "LOH in tumor, 0/80 controls; only partial co-segregation" "Germline" "?" "" "0" "" "" "g.17028628T>G" "" "VUS" "" "0000116556" "0" "53" "1" "17355116" "17355116" "subst" "0" "01713" "SDHB_000178" "g.17355116A>G" "" "{PMID:Burnichon:19454582}" "" "p.Tyr134Tyr" "Allelic freq: controls 0/200;patients 1/651" "Germline" "" "" "0" "" "" "g.17028621A>G" "" "VUS" "" "0000116557" "0" "99" "1" "17355112" "17355112" "del" "0" "01713" "SDHB_000140" "g.17355112del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.17028617del" "" "pathogenic" "" "0000116558" "0" "77" "1" "17355106" "17355106" "subst" "0" "01713" "SDHB_000228" "g.17355106C>T" "" "{PMID:Nozieres:22430264}" "" "" "" "Germline" "" "" "0" "" "" "g.17028611C>T" "" "likely pathogenic" "" "0000116559" "0" "75" "1" "17355104" "17355104" "subst" "0" "01658" "SDHB_000222" "g.17355104A>T" "" "" "" "p.D138E" "very similar AAs. Conserved in Escherichia coli, Vibrio cholerae, Mycobacterium bovis, Bacillus subtilis. VUS" "Unknown" "" "" "0" "" "" "g.17028609A>T" "" "likely pathogenic" "" "0000116560" "1" "77" "1" "17355100" "17355100" "subst" "1.2186E-5" "01713" "SDHB_000095" "g.17355100C>A" "" "{PMID:Brouwers:16912137}, {PMID:Prodanov:19189136}, {PMID: Santiago:20583550}, {PMID:Lodish: 20418362}, {PMID:Schimke: 20503330}, {PMID:Timmers: 18840642}" "" "" "Highly conserved residue" "Germline" "" "" "0" "" "" "g.17028605C>A" "" "likely pathogenic" "" "0000116561" "0" "79" "1" "17355100" "17355100" "subst" "1.2186E-5" "01713" "SDHB_000095" "g.17355100C>A" "" "{PMID: Majumdar:19927285}" "" "V140F" "" "Germline" "" "" "0" "" "" "g.17028605C>A" "" "likely pathogenic" "" "0000116562" "1" "53" "1" "17355061" "17355062" "ins" "0" "01713" "SDHB_000048" "g.17355061_17355062insGAAGAA" "" "{PMID:Cascon:12362046}" "" "IVS4 +35ins" "0/100 controls, Freq Spanish pop -3.5% (Cascon 2004), Polymorphism" "Germline" "" "" "0" "" "" "g.17028566_17028567insGAAGAA" "" "likely benign" "" "0000116563" "1" "59" "1" "17355094" "17355094" "subst" "1.21891E-5" "01043" "SDHB_000047" "g.17355094C>T" "" "{PMID:Ercolino:19411806}, {PMID:Cascon:19258401}, {PMID:Douwes Dekker: 15095273}, {PMID:Benn: 16317055}, {PMID:Bayley: 16405730} Weiss 2005" "" "(IVS4) Aberrant splicing?" "defective splicing" "Unknown" "" "" "0" "" "" "g.17028599C>T" "" "pathogenic" "" "0000116564" "0" "59" "1" "17355094" "17355094" "subst" "1.21891E-5" "01713" "SDHB_000047" "g.17355094C>T" "" "{PMID:Burnichon:19454582}" "" "Splicesite" "" "Germline" "" "" "0" "" "" "g.17028599C>T" "" "pathogenic" "" "0000116565" "0" "99" "1" "17355094" "17355094" "subst" "1.21891E-5" "01713" "SDHB_000047" "g.17355094C>T" "" "{PMID:Gill:21934479}" "" "" "" "Germline" "" "" "0" "" "" "g.17028599C>T" "" "pathogenic" "" "0000116566" "1" "99" "1" "17355094" "17355094" "subst" "0" "01713" "SDHB_000073" "g.17355094C>G" "" "{PMID:Douwes Dekker:14595761}, {PMID:Amar:16314641}, {PMID:Amar:17652212}, {PMID:Pasini:17667967}, {PMID:Hes:20540712}" "" "(IVS4) Aberrant splicing?" "" "Germline" "" "" "0" "" "" "g.17028599C>G" "" "pathogenic" "" "0000116567" "0" "99" "1" "17355094" "17355094" "subst" "0" "01713" "SDHB_000073" "g.17355094C>G" "" "{PMID:Burnichon:19454582}" "" "Splicesite" "" "Germline" "" "" "0" "" "" "g.17028599C>G" "" "pathogenic" "" "0000116568" "0" "33" "1" "17355075" "17355075" "subst" "0.00312894" "01661" "SDHB_000133" "g.17355075A>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.17028580A>T" "" "VUS" "" "0000116569" "0" "53" "1" "17355075" "17355075" "subst" "0.00312894" "01713" "SDHB_000133" "g.17355075A>T" "" "{PMID:Srirangalingam:18419787}" "" "" "Predicted Splicesite (in silico). RNA analysis (heterozygous patient) with and without inhibition of NMD did not show aberrant transcripts." "Germline" "" "" "0" "" "" "g.17028580A>T" "" "VUS" "" "0000116570" "0" "33" "1" "17354392" "17354397" "dup" "0" "01713" "SDHB_000226" "g.17354392_17354397dup" "" "{PMID:Alrashdi:20119652}" "" "" "" "Germline" "" "rs10926501" "0" "" "" "g.17027897_17027902dup" "" "likely benign" "" "0000116571" "0" "13" "1" "17354374" "17354378" "del" "0" "01713" "SDHB_000144" "g.17354374_17354378del" "" "{PMID: Meyer-Rochow:19215943}" "" "-0" "" "Germline" "" "" "0" "" "" "g.17027879_17027883del" "" "benign" "" "0000116572" "0" "57" "1" "17354357" "17354366" "del" "0" "01645" "SDHB_000243" "g.17354357_17354366del" "" "" "" "" "Deletion of begin exon 5 and splice acceptor site" "Unknown" "" "" "0" "" "" "g.17027862_17027871del" "" "VUS" "" "0000116573" "0" "57" "1" "17354367" "17354367" "subst" "0" "01645" "SDHB_000200" "g.17354367T>G" "" "" "" "" "Deletion of begin exon 5 and splice acceptor site. (Comment by curator. If this is true, the nomenclature is incorrect)" "Unknown" "" "" "0" "" "" "g.17027872T>G" "" "VUS" "" "0000116574" "1" "57" "1" "17354363" "17354363" "subst" "0" "01713" "SDHB_000074" "g.17354363G>C" "" "{PMID:Cascon:19258401}, {PMID:Dahia:16103922}, {PMID:Fuentes:16699302}" "" "Aberrant splicing?, IVS4-3C>G, c.558-3C>G" "exon 5 skipping and truncation at 248aa, Spain" "Germline" "" "" "0" "" "" "g.17027868G>C" "" "pathogenic" "" "0000116575" "0" "55" "1" "17354362" "17354362" "del" "0" "01645" "SDHB_000129" "g.17354362del" "" "" "" "" "deletion affecting splicesite" "Unknown" "" "" "0" "" "" "g.17027867del" "" "VUS" "" "0000116576" "1" "77" "1" "17354361" "17354361" "subst" "0" "01713" "SDHB_000049" "g.17354361C>T" "" "{PMID:Benn:12618761}, {PMID:Benn:16317055}" "" "(IVS4) Aberrant splicing?" "" "Germline" "" "" "0" "" "" "g.17027866C>T" "" "pathogenic" "" "0000116577" "0" "57" "1" "17354243" "17354361" "del" "0" "01713" "SDHB_000169" "g.(17350570_17354243)_(17354361_17355094)del" "" "{PMID:Neumann:19351833}" "" "Deletion Exon 5" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000116578" "0" "53" "1" "17354346" "17354346" "subst" "0" "01645" "SDHB_000198" "g.17354346G>C" "" "" "" "" "Align GVGD: Class C15 (least likely to affect function). Both nonpolar AAs. Conserved in Escherichia coli, Vibrio cholerae, Mycobacterium bovis, but v.low Grantham score (22). VUS/Likely benign in opinion of curator." "Unknown" "" "" "0" "" "" "g.17027851G>C" "" "VUS" "" "0000116579" "0" "59" "1" "17354316" "17354316" "del" "0" "01645" "SDHB_000121" "g.17354316del" "" "{PMID:Saito:19261994}, {PMID:Sato:20960097}" "" "" "" "Unknown" "" "" "0" "" "" "g.17027821del" "" "pathogenic" "" "0000116580" "0" "57" "1" "17354314" "17354314" "subst" "0" "01713" "SDHB_000179" "g.17354314A>C" "" "{PMID:Burnichon:19454582}" "" "p.Leu157Trp" "SDHB protein expression = 0" "Germline" "" "" "0" "" "" "g.17027819A>C" "" "likely pathogenic" "" "0000116581" "0" "53" "1" "17354297" "17354297" "subst" "0.0121677" "01713" "SDHB_000038" "g.17354297A>G" "2.3%/3%" "{PMID:Cascon:14985401 }, {PMID:Korpershoek:17639058}, {PMID:De Krijger:17102083}, {PMID:Castellano:17102082}, {PMID:Persu:18551016}, {PMID: Brouwers:16912137}" "" "" "" "Germline" "" "" "0" "" "" "g.17027802A>G" "" "benign" "" "0000116582" "0" "51" "1" "17354297" "17354297" "subst" "0.0121677" "01713" "SDHB_000038" "g.17354297A>G" "3%" "{PMID:Burnichon:19454582}" "" "p.Ser163Pro" "Reported 3407 times in gnomAD." "Germline" "" "rs33927012" "0" "" "" "g.17027802A>G" "" "benign" "" "0000116583" "0" "57" "1" "17354292" "17354292" "del" "0" "01713" "SDHB_000180" "g.17354292del" "" "{PMID:Burnichon:19454582}" "" "p.Glu165LysfsX10" "" "Germline" "" "" "0" "" "" "g.17027797del" "" "likely pathogenic" "" "0000116584" "0" "99" "1" "17354282" "17354282" "subst" "0" "01713" "SDHB_000220" "g.17354282G>A" "" "{PMID: Oishi:20505258}" "" "Q168X" "" "Germline" "" "" "0" "" "" "g.17027787G>A" "" "pathogenic" "" "0000116585" "1" "79" "1" "17354282" "17354282" "dup" "0" "01713" "SDHB_000075" "g.17354282dup" "" "{PMID:Benn:16317055}" "" "Q168fsX177" "" "Germline" "" "" "0" "" "" "g.17027787dup" "" "pathogenic" "" "0000116586" "21" "99" "1" "17354261" "17354261" "subst" "0" "01654" "SDHB_000136" "g.17354261C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.17027766C>A" "" "pathogenic" "" "0000116587" "0" "99" "1" "17354258" "17354258" "subst" "0" "01713" "SDHB_000212" "g.17354258C>A" "" "{PMID: Ricketts:19802898}" "" "" "" "Germline" "" "" "0" "" "" "g.17027763C>A" "" "pathogenic" "" "0000116588" "1" "53" "1" "17354244" "17354244" "subst" "8.12506E-6" "01648" "SDHB_000105" "g.17354244C>T" "" "Garcia-Rostan{PMID:Lima:17848412}" "" "p.Leu180Leu" "Splicing affected" "Unknown" "" "" "0" "" "" "g.17027749C>T" "" "likely benign" "" "0000116589" "0" "57" "1" "17354242" "17354242" "subst" "0" "01713" "SDHB_000181" "g.17354242A>G" "" "{PMID:Burnichon:19454582}" "" "p.?" "LOH at SDHB locus; SDHB protein expression = 0" "Germline" "" "" "0" "" "" "g.17027747A>G" "" "pathogenic" "" "0000116590" "1" "55" "1" "17350572" "17350572" "subst" "0" "01713" "SDHB_000050" "g.17350572G>C" "" "{PMID:Neumann:15328326}" "" "(IVS5)" "Polymorphism?" "Germline" "" "" "0" "" "" "g.17024077G>C" "" "VUS" "" "0000116591" "0" "57" "1" "17350571" "17350571" "subst" "0" "01713" "SDHB_000127" "g.17350571T>G" "" "" "" "-0" "" "Germline" "" "" "0" "" "" "g.17024076T>G" "" "VUS" "" "0000116592" "1" "57" "1" "17350571" "17350571" "subst" "0" "01713" "SDHB_000051" "g.17350571T>C" "" "{PMID:Timmers HJ:17200167}" "" "(IVS5)" "Polymorphism?" "Germline" "" "" "0" "" "" "g.17024076T>C" "" "likely pathogenic" "" "0000116593" "0" "57" "1" "17350566" "17350566" "del" "0" "01713" "SDHB_000182" "g.17350566del" "" "{PMID:Burnichon:19454582}" "" "p.Leu183SerfsX37" "" "Germline" "" "" "0" "" "" "g.17024071del" "" "likely pathogenic" "" "0000116594" "21" "95" "1" "17350558" "17350560" "delins" "0" "01654" "SDHB_000135" "g.17350558_17350560delinsCTGTAT" "" "{PMID:Neumann:19351833}" "" "" "Germany" "Unknown" "" "" "0" "" "" "g.17024063_17024065delinsCTGTAT" "" "pathogenic" "" "0000116595" "1" "79" "1" "17350553" "17350553" "subst" "0" "01648" "SDHB_000107" "g.17350553C>T" "" "Garcia-Rostan{PMID:Lima:17848412}, {PMID:Sevilla:19393419}" "" "" "affects highly conserved Fe-S cluster. V. high Grantham score (194)" "Unknown" "" "" "0" "" "" "g.17024058C>T" "" "pathogenic" "" "0000116596" "0" "57" "1" "17350545" "17350545" "subst" "0" "01713" "SDHB_000183" "g.17350545A>G" "" "{PMID:Burnichon:19454582}" "" "p.Cys189Arg" "affects highly conserved Fe-S cluster" "Germline" "" "" "0" "" "" "g.17024050A>G" "" "likely pathogenic" "" "0000116597" "0" "57" "1" "17350544" "17350544" "subst" "0" "01650" "SDHB_000126" "g.17350544C>A" "" "" "" "" "Iron-Sulfur binding site change, highly conserved" "Unknown" "" "" "0" "" "" "g.17024049C>A" "" "likely pathogenic" "" "0000116598" "0" "77" "1" "17350538" "17350538" "subst" "0" "01646" "SDHB_000194" "g.17350538C>T" "" "{PMID:Goffrini:19261679}, {PMID:Piccini:22241717}" "" "" "affects highly conserved Fe-S cluster, suppresses SDH enzyme activity, leading to increased ROS formation and mtDNA mutability in yeast" "Unknown" "" "" "0" "" "" "g.17024043C>T" "" "likely pathogenic" "" "0000116599" "1" "77" "1" "17350536" "17350536" "subst" "0" "01713" "SDHB_000052" "g.17350536A>G" "" "{PMID:Neumann:15328326}, {PMID:Neumann:12000816}, {PMID:Timmers HJ: 17200167}, {PMID:Klein:18382370}" "" "708T/C (Cys192>Arg)" "0/300 controls, affects highly conserved Fe-S cluster, USA" "Germline" "" "" "0" "" "" "g.17024041A>G" "" "likely pathogenic" "" "0000116600" "0" "77" "1" "17350536" "17350536" "subst" "0" "01713" "SDHB_000052" "g.17350536A>G" "" "{PMID:Burnichon:19454582}" "" "p.Cys192Arg" "affects highly conserved Fe-S cluster" "Germline" "" "" "0" "" "" "g.17024041A>G" "" "likely pathogenic" "" "0000116601" "1" "57" "1" "17350535" "17350535" "subst" "0" "01713" "SDHB_000076" "g.17350535C>T" "" "{PMID:Benn:16317055}" "" "C192Y" "affects highly conserved Fe-S cluster" "Germline" "" "" "0" "" "" "g.17024040C>T" "" "likely pathogenic" "" "0000116602" "0" "57" "1" "17350535" "17350535" "subst" "0" "01713" "SDHB_000076" "g.17350535C>T" "" "{PMID:Burnichon:19454582}" "" "p.Cys192Tyr" "" "Germline" "" "" "0" "" "" "g.17024040C>T" "" "likely pathogenic" "" "0000116603" "0" "75" "1" "17350522" "17350533" "dup" "0" "01713" "SDHB_000204" "g.17350522_17350533dup" "" "{PMID: Musil:20193854}" "" "c.589_600dup, p.Cys196_Cys200dup" "" "Germline" "" "" "0" "" "" "g.17024027_17024038dup" "" "likely pathogenic" "" "0000116604" "1" "55" "1" "17350526" "17350528" "del" "0" "01646" "SDHB_000079" "g.17350526_17350528del" "" "tonino.ercolino@unifi.it" "" "" "" "De novo" "" "" "0" "" "" "g.17024031_17024033del" "" "VUS" "" "0000116605" "1" "55" "1" "17350526" "17350528" "del" "0" "01713" "SDHB_000053" "g.17350526_17350528del" "" "{PMID:Cascon:14985401}, {PMID:Mhatre:15479192}, {PMID:Cascon:19258401}" "" "" "affects highly conserved Fe-S cluster" "Germline" "" "" "0" "" "" "g.17024031_17024033del" "" "VUS" "" "0000116606" "21" "97" "1" "17350524" "17350524" "subst" "0" "01664" "SDHB_000232" "g.17350524A>G" "0" "" "" "" "" "Unknown" "" "" "0" "" "" "g.17024029A>G" "" "pathogenic" "" "0000116607" "21" "97" "1" "17350524" "17350524" "subst" "0" "01664" "SDHB_000231" "g.17350524A>C" "0" "" "" "" "" "Unknown" "" "" "0" "" "" "g.17024029A>C" "" "pathogenic" "" "0000116608" "1" "79" "1" "17350523" "17350523" "subst" "0" "01713" "SDHB_000054" "g.17350523C>T" "" "{PMID:Amar:17652212}, {PMID:Neumann:15328326}, {PMID:Neumann:12000816}, {PMID:Benn:16317055}, {PMID:Brouwers:16912137}" "" "721G/A (Cys196>Tyr)" "0/300 controls, affects highly conserved Fe-S cluster" "Germline" "" "" "0" "" "" "g.17024028C>T" "" "pathogenic" "" "0000116609" "0" "77" "1" "17350523" "17350523" "subst" "0" "01713" "SDHB_000054" "g.17350523C>T" "" "{PMID:Burnichon:19454582}, {PMID: Timmers:18840642}" "" "p.Cys196Tyr" "affects highly conserved Fe-S cluster" "Germline" "?" "" "0" "" "" "g.17024028C>T" "" "pathogenic" "" "0000116610" "21" "97" "1" "17350522" "17350522" "subst" "0" "01654" "SDHB_000134" "g.17350522G>C" "" "" "" "" "affects highly conserved Fe-S cluster" "Unknown" "" "" "0" "" "" "g.17024027G>C" "" "pathogenic" "" "0000116611" "1" "57" "1" "17350521" "17350521" "subst" "0" "01648" "SDHB_000102" "g.17350521G>A" "" "{PMID:Lima:17848412}, {PMID:Sevilla:19393419}" "" "" "" "Unknown" "" "" "0" "" "" "g.17024026G>A" "" "likely pathogenic" "" "0000116612" "0" "57" "1" "17350521" "17350521" "subst" "0" "01713" "SDHB_000102" "g.17350521G>A" "" "{PMID:Burnichon:19454582}" "" "p.Pro197Ser" "" "Germline" "" "" "0" "" "" "g.17024026G>A" "" "likely pathogenic" "" "0000116613" "1" "55" "1" "17350520" "17350520" "subst" "4.06527E-6" "01713" "SDHB_000002" "g.17350520G>C" "" "{PMID:Astuti:11404820}, {PMID:Astuti:14974914}, {PMID:Lawrence:16982587}, {PMID:Srirangalingam:18419787}" "" "724C>G (P198R), c.590C>G (p.P197R)" "Affects highly conserved Fe-S cluster. Conserved, highly conserved region. Intolerant in SIFT (0.0). Deletes proline. Changes nonpolar to charged polar AA. Relatively common in gnomAD v4 (1.67E-05).\r\nVUS in opinion of curator." "Germline" "" "" "0" "" "" "g.17024025G>C" "" "VUS" "" "0000116614" "1" "59" "1" "17350522" "17350522" "del" "0" "01713" "SDHB_000003" "g.17350522del" "" "{PMID:Astuti:11404820}, {PMID:Gimenez-Roqueplo:14500403}, {PMID:Benn:16317055}, {PMID:Fakhry:17987308}" "" "c.588delC, C196fsX219, c.591delC, S198fsX220, 725 delC (Frameshift ex6)," "United Kingdom (Great Britain), 0/100 controls" "Germline" "" "" "0" "" "" "g.17024027del" "" "pathogenic" "" "0000116615" "0" "59" "1" "17350522" "17350522" "del" "0" "01713" "SDHB_000003" "g.17350522del" "" "{PMID:Burnichon:19454582}" "" "p.Ser198AlafsX22" "" "Germline" "" "" "0" "" "" "g.17024027del" "" "pathogenic" "" "0000116616" "0" "77" "1" "17350516" "17350516" "subst" "0" "01713" "SDHB_000077" "g.17350516G>T" "" "{PMID:Dahia:16103922}" "" "S198R" "only tumor DNA available, affects highly conserved Fe-S cluster" "Germline" "?" "" "0" "" "" "g.17024021G>T" "" "likely pathogenic" "" "0000116617" "11" "99" "1" "17350513" "17350513" "subst" "0" "01655" "SDHB_000152" "g.17350513G>C" "" "" "" "Y199X" "" "Unknown" "" "" "0" "" "" "g.17024018G>C" "" "pathogenic" "" "0000116618" "1" "57" "1" "17350510" "17350510" "subst" "0" "01713" "SDHB_000098" "g.17350510C>A" "" "{PMID:Henderson:19184535}, {PMID:Drucker:17143317}, {PMID:Timmers HJ:17200167}, {PMID:Klein:18382370}, {PMID: Lodish: 20418362}, {PMID:Alrashdi:20119652}" "" "" "Carney Triad. Highly conserved amino acid affecting 3Fe-4S site and ubiquinone binding domain." "Germline" "" "" "0" "" "" "g.17024015C>A" "" "likely pathogenic" "" "0000116619" "0" "99" "1" "17350503" "17350503" "subst" "0" "01664" "SDHB_000233" "g.17350503C>A" "0" "" "" "" "" "Unknown" "" "" "0" "" "" "g.17024008C>A" "" "pathogenic" "" "0000116620" "0" "55" "1" "17350493" "17350493" "subst" "0" "01713" "SDHB_000184" "g.17350493T>C" "" "{PMID:Burnichon:19454582}" "" "p.Tyr206Cys" "" "Germline" "" "" "0" "" "" "g.17023998T>C" "" "likely pathogenic" "" "0000116621" "1" "99" "1" "17350489" "17350490" "del" "0" "01713" "SDHB_000055" "g.17350489_17350490del" "" "{PMID:Amar:17652212}, {PMID:Gimenez-Roqueplo:14500403}, {PMID:Amar:16314641}, {PMID:Benn:16317055}" "" "754-755 del tg (Frameshift ex6)" "" "Germline" "" "" "0" "" "" "g.17023994_17023995del" "" "pathogenic" "" "0000116622" "0" "99" "1" "17350489" "17350490" "del" "0" "01713" "SDHB_000055" "g.17350489_17350490del" "" "{PMID:Burnichon:19454582}" "" "p.Leu207ArgfsX14" "LOH at SDHB locus" "Germline" "" "" "0" "" "" "g.17023994_17023995del" "" "pathogenic" "" "0000116623" "1" "77" "1" "17350487" "17350487" "subst" "0" "01713" "SDHB_000078" "g.17350487C>T" "" "{PMID:Benn:16317055}" "" "G208E" "" "Germline" "" "" "0" "" "" "g.17023992C>T" "" "pathogenic" "" "0000116624" "0" "59" "1" "17350470" "17350470" "subst" "0" "01713" "SDHB_000120" "g.17350470G>A" "" "{PMID:Reusch:17943698}, {PMID:Kim:19694205}" "" "Q214X" "" "Germline" "" "" "0" "" "" "g.17023975G>A" "" "pathogenic" "" "0000116625" "0" "77" "1" "17345217" "17349226" "del" "0" "01713" "SDHB_000114" "g.(?_17345217)_(17349226_17350467)del" "" "{PMID:Pasini:17667967}" "" "large deletion (exons 7-8 deletion)" "" "Germline" "?" "" "0" "" "" "" "" "pathogenic" "" "0000116626" "1" "55" "1" "17350468" "17350468" "subst" "0" "01713" "SDHB_000096" "g.17350468C>G" "" "{PMID:Brouwers:16912137}" "" "" "Highly conserved residue, very low Grantham score (24) but possibel functional site, UQ binding (Sun et al 2005)" "Germline" "" "" "0" "" "" "g.17023973C>G" "" "VUS" "" "0000116627" "0" "77" "1" "17350467" "17350467" "subst" "0" "01713" "SDHB_000145" "g.17350467C>T" "" "{PMID: Meyer-Rochow:19215943}" "" "c.642G>A" "" "Germline" "" "" "0" "" "" "g.17023972C>T" "" "likely pathogenic" "" "0000116628" "0" "53" "1" "17350451" "17350451" "subst" "0.00015858" "01713" "SDHB_000185" "g.17350451A>G" "" "{PMID:Burnichon:19454582}" "" "" "Allelic freq: controls 1/200; patients 1/652" "Germline" "" "" "0" "" "" "g.17023956A>G" "" "VUS" "" "0000116629" "0" "77" "1" "17345217" "17349226" "del" "0" "01713" "SDHB_000142" "g.(?_17345217)_(17349226_17350467)del" "" "{PMID:Pigny:19029228}" "" "large deletion (exons 7-8 deletion)" "" "Germline" "?" "" "0" "" "" "" "" "pathogenic" "" "0000116630" "0" "77" "1" "17349227" "17349227" "subst" "0" "01713" "SDHB_000147" "g.17349227T>G" "" "{PMID:Cascon:19258401}" "" "" "Splicing?" "Germline" "" "" "0" "" "" "g.17022732T>G" "" "likely pathogenic" "" "0000116631" "0" "55" "1" "17349225" "17349225" "subst" "4.0777E-6" "01713" "SDHB_000225" "g.17349225C>T" "" "{PMID:Ni:21979946}" "" "" "Highly conserved, possible functional motief, UQ binding, nonpolar to polar AA, but low Grantham score (58)" "Germline" "" "" "0" "" "" "g.17022730C>T" "" "VUS" "" "0000116632" "1" "57" "1" "17349224" "17349224" "del" "0" "01713" "SDHB_000085" "g.17349224del" "" "{PMID:Mora:16304664}" "" "c.778delC" "" "Germline" "" "" "0" "" "" "g.17022729del" "" "likely pathogenic" "" "0000116633" "1" "77" "1" "17349219" "17349219" "subst" "0" "01713" "SDHB_000086" "g.17349219G>A" "" "{PMID:Braun:16080530}, {PMID:Klein:18382370}, {PMID:Vijan:18753105}" "" "c.647, p.R217C" "USA (poss. somatic)" "Germline" "?" "" "0" "" "" "g.17022724G>A" "" "likely pathogenic" "" "0000116634" "0" "77" "1" "17349219" "17349219" "subst" "0" "01713" "SDHB_000086" "g.17349219G>A" "" "{PMID:Burnichon:19454582}" "" "p.Arg217Cys" "" "Germline" "?" "" "0" "" "" "g.17022724G>A" "" "likely pathogenic" "" "0000116635" "0" "97" "1" "17349218" "17349218" "subst" "4.06888E-6" "01713" "SDHB_000159" "g.17349218C>A" "" "{PMID:Neumann:19351833}" "" "" "Affects possible functional motief UQ binding. Highly conserved, large charged polar to nonpolar AA, medium Grantham score (102). Likely pathogenic in opinion of curator" "Germline" "" "" "0" "" "" "g.17022723C>A" "" "likely pathogenic" "" "0000116636" "1" "59" "1" "17349215" "17349215" "subst" "0" "01644" "SDHB_000064" "g.17349215C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.17022720C>T" "" "pathogenic" "" "0000116637" "1" "77" "1" "17349215" "17349215" "subst" "0" "01713" "SDHB_000056" "g.17349215C>G" "" "{PMID:Bayley:16405730}" "" "" "" "Germline" "" "" "0" "" "" "g.17022720C>G" "" "likely pathogenic" "" "0000116638" "0" "77" "1" "17349214" "17349214" "subst" "0" "01713" "SDHB_000186" "g.17349214C>T" "" "{PMID:Burnichon:19454582}" "" "p.Trp218X" "" "Germline" "" "" "0" "" "" "g.17022719C>T" "" "pathogenic" "" "0000116639" "1" "59" "1" "17349209" "17349209" "dup" "0" "01713" "SDHB_000057" "g.17349209dup" "" "{PMID:Astuti:14974914}" "" "c.660-661insT (D221X)" "" "Germline" "" "" "0" "" "" "g.17022714dup" "" "likely pathogenic" "" "0000116640" "1" "59" "1" "17349207" "17349207" "del" "0" "01643" "SDHB_000090" "g.17349207del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.17022712del" "" "pathogenic" "" "0000116641" "1" "59" "1" "17349186" "17349187" "del" "0" "01713" "SDHB_000097" "g.17349186_17349187del" "" "{PMID:Brouwers:16912137}" "" "" "" "Germline" "" "" "0" "" "" "g.17022691_17022692del" "" "pathogenic" "" "0000116642" "0" "77" "1" "17349182" "17349183" "ins" "0" "01713" "SDHB_000213" "g.17349182_17349183ins13?" "" "{PMID: Ricketts:19802898}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000116643" "0" "59" "1" "17349181" "17349181" "dup" "0" "01713" "SDHB_000122" "g.17349181dup" "" "{PMID:Klein:18382370}" "" "p.Glu229fs" "" "Germline" "" "" "0" "" "" "g.17022686dup" "" "pathogenic" "" "0000116644" "0" "57" "1" "17349180" "17349180" "subst" "0" "01713" "SDHB_000100" "g.17349180G>C" "" "{PMID:Castellano:17102082}" "" "R230G" "Highly conserved, large charged polar to very small polar uncharged AA, medium/high Grantham score (125). Likely pathogenic in opinion of curator" "Germline" "" "" "0" "" "" "g.17022685G>C" "" "likely pathogenic" "" "0000116645" "1" "77" "1" "17349180" "17349180" "subst" "4.06184E-6" "01713" "SDHB_000058" "g.17349180G>A" "" "{PMID:Sevilla:19393419}, {PMID:Amar:17652212}, {PMID:Gimenez-Roqueplo:14500403}, {PMID:Dahia:16103922}" "" "c822t (R230C )(ex7)" "" "Germline" "" "" "0" "" "" "g.17022685G>A" "" "pathogenic" "" "0000116646" "0" "07" "1" "17349180" "17349180" "subst" "4.06184E-6" "01713" "SDHB_000058" "g.17349180G>A" "" "{PMID:Burnichon:19454582}" "" "p.Arg230Cys" "" "Germline" "?" "" "0" "" "" "g.17022685G>A" "" "pathogenic" "" "0000116647" "1" "57" "1" "17349179" "17349179" "subst" "4.06177E-6" "01713" "SDHB_000108" "g.17349179C>T" "" "{PMID:Sevilla:19393419}, {PMID:Cascon:19258401}, {PMID:Amar:16314641}, {PMID:Brouwers:16912137}, \r\n{PMID:Persu:18551016}, {PMID:Gronberg:27604842}" "" "" "Higly conserved AA, but His is relatively minor change. Likely pathogenic. Possible mild variant found compound heterozygous in Leukoencephalopathy due to Complex II Deficiency" "Germline" "" "" "0" "" "" "g.17022684C>T" "" "likely pathogenic" "" "0000116648" "0" "57" "1" "17349179" "17349179" "subst" "4.06177E-6" "01713" "SDHB_000108" "g.17349179C>T" "" "{PMID:Burnichon:19454582}" "" "p.Arg230His" "LOH at SDHB locus; SDH activity=0; SDHB protein expression=0" "Germline" "" "" "0" "" "" "g.17022684C>T" "" "pathogenic" "" "0000116649" "0" "57" "1" "17349179" "17349179" "subst" "4.06177E-6" "01713" "SDHB_000123" "g.17349179C>A" "" "{PMID:Klein:18382370}" "" "" "" "Germline" "" "" "0" "" "" "g.17022684C>A" "" "likely pathogenic" "" "0000116650" "0" "97" "1" "17349179" "17349179" "subst" "4.06177E-6" "01713" "SDHB_000123" "g.17349179C>A" "" "{PMID:Neumann:19351833}" "" "" "" "Germline" "" "" "0" "" "" "g.17022684C>A" "" "likely pathogenic" "" "0000116651" "20" "99" "1" "17349165" "17349165" "subst" "0" "01654" "SDHB_000137" "g.17349165G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.17022670G>A" "" "pathogenic" "" "0000116652" "0" "95" "1" "17349159" "17349159" "subst" "8.93437E-5" "01655" "SDHB_000199" "g.17349159G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.17022664G>A" "" "VUS" "" "0000116653" "1" "59" "1" "17349156" "17349156" "del" "0" "01713" "SDHB_000082" "g.17349156del" "" "{PMID:Amar:16314641}, {PMID:Benn:16317055}" "" "p.Phe238Ser, F238fsX247" "" "Germline" "" "" "0" "" "" "g.17022661del" "" "pathogenic" "" "0000116654" "0" "59" "1" "17349156" "17349156" "del" "0" "01713" "SDHB_000082" "g.17349156del" "" "{PMID:Burnichon:19454582}" "" "p.Phe238SerfsX10" "LOH at SDHB locus; SDHB protein expression=0" "Germline" "" "" "0" "" "" "g.17022661del" "" "pathogenic" "" "0000116655" "1" "59" "1" "17349152" "17349155" "del" "0" "01713" "SDHB_000005" "g.17349152_17349155del" "" "{PMID:Neumann:15328326}, {PMID:Neumann:12000816}, {PMID:Vanharanta:14685938}" "" "847delTCTC (Frame shift)" "" "Germline" "" "" "0" "" "" "g.17022657_17022660del" "" "pathogenic" "" "0000116656" "0" "55" "1" "17349152" "17349152" "subst" "2.43663E-5" "01713" "SDHB_000124" "g.17349152G>A" "" "{PMID:Klein:18382370}" "" "p.S239F" "" "Germline" "" "" "0" "" "" "g.17022657G>A" "" "VUS" "" "0000116657" "1" "59" "1" "17349151" "17349151" "del" "0" "01713" "SDHB_000080" "g.17349151del" "" "{PMID:Amar:16314641}" "" "p.Leu240fs" "" "Germline" "" "" "0" "" "" "g.17022656del" "" "pathogenic" "" "0000116658" "0" "99" "1" "17349154" "17349155" "del" "0" "01713" "SDHB_000160" "g.17349154_17349155del" "" "{PMID:Neumann:19351833}" "" "" "" "Germline" "" "" "0" "" "" "g.17022659_17022660del" "" "pathogenic" "" "0000116659" "0" "77" "1" "17349154" "17349155" "del" "0" "01713" "SDHB_000160" "g.17349154_17349155del" "" "{PMID:Burnichon:19454582}" "" "Leu240IlefsX15" "" "Germline" "" "" "0" "" "" "g.17022659_17022660del" "" "pathogenic" "" "0000116660" "1" "57" "1" "17349148" "17349151" "del" "0" "01713" "SDHB_000081" "g.17349148_17349151del" "" "{PMID:Amar:16314641}, {PMID:Benn:16317055}" "" "p.Leu240fs, L240fsX247" "" "Germline" "" "" "0" "" "" "g.17022653_17022656del" "" "likely pathogenic" "" "0000116661" "0" "57" "1" "17349148" "17349151" "del" "0" "01713" "SDHB_000081" "g.17349148_17349151del" "" "{PMID:Burnichon:19454582}" "" "p.Leu240ThrfsX7" "" "Germline" "" "" "0" "" "" "g.17022653_17022656del" "" "likely pathogenic" "" "0000116662" "0" "77" "1" "17349144" "17349144" "subst" "0" "01713" "SDHB_000161" "g.17349144G>T" "" "{PMID:Neumann:19351833}" "" "" "affects highly conserved Fe-S cluster" "Germline" "" "" "0" "" "" "g.17022649G>T" "" "likely pathogenic" "" "0000116663" "0" "57" "1" "17349144" "17349144" "subst" "0" "01713" "SDHB_000060" "g.17349144G>A" "" "{PMID:Badenhop:15235042 }, {PMID:Schiavi:17102086}" "" "724C>T/R242C" "affects highly conserved Fe-S cluster" "Germline" "" "" "0" "" "" "g.17022649G>A" "" "likely pathogenic" "" "0000116664" "0" "57" "1" "17349144" "17349144" "subst" "0" "01713" "SDHB_000060" "g.17349144G>A" "" "{PMID:Burnichon:19454582}" "" "p.Arg242Cys" "affects highly conserved Fe-S cluster" "Germline" "" "" "0" "" "" "g.17022649G>A" "" "likely pathogenic" "" "0000116665" "1" "57" "1" "17349143" "17349143" "subst" "8.12321E-6" "01713" "SDHB_000004" "g.17349143C>T" "" "{PMID:Sevilla:19393419}, {PMID:Cascon:19258401}, {PMID:Neumann:15328326}, {PMID:Neumann:12000816}, {PMID:Young:12213855}, {PMID:Jeffery:16536919}, {PMID:Amar:17652212}, {PMID:Persu:18551016}, {PMID:Ghayee:19075037}" "" "C859A (Codon242, ArgtoHis), c.725G>A (R242H)" "0/300 controls, affects highly conserved Fe-S cluster" "Germline" "" "" "0" "" "" "g.17022648C>T" "" "pathogenic" "" "0000116666" "0" "97" "1" "17349143" "17349143" "subst" "8.12321E-6" "01655" "SDHB_000004" "g.17349143C>T" "" "" "" "R242H" "affects highly conserved Fe-S cluster" "Unknown" "" "" "0" "" "" "g.17022648C>T" "" "pathogenic" "" "0000116667" "0" "59" "1" "17349143" "17349143" "subst" "8.12321E-6" "01713" "SDHB_000004" "g.17349143C>T" "" "{PMID:Burnichon:19454582}" "" "p.Arg242His" "affects highly conserved Fe-S cluster" "Germline" "" "" "0" "" "" "g.17022648C>T" "" "pathogenic" "" "0000116668" "11" "95" "1" "17349143" "17349143" "subst" "8.12321E-6" "01657" "SDHB_000004" "g.17349143C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.17022648C>T" "" "pathogenic" "" "0000116669" "0" "77" "1" "17349141" "17349141" "subst" "0" "01713" "SDHB_000112" "g.17349141A>T" "" "{PMID:Korpershoek:17639058}" "" "TGC->AGC, C243S" "affects highly conserved Fe-S cluster" "Germline" "" "" "0" "" "" "g.17022646A>T" "" "likely pathogenic" "" "0000116670" "0" "77" "1" "17349141" "17349141" "subst" "0" "01649" "SDHB_000112" "g.17349141A>T" "" "{PMID:Korpershoek:17634472}" "" "" "affects highly conserved Fe-S cluster" "Unknown" "" "" "0" "" "" "g.17022646A>T" "" "likely pathogenic" "" "0000116671" "0" "97" "1" "17349140" "17349140" "subst" "0" "01664" "SDHB_000234" "g.17349140C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.17022645C>T" "" "pathogenic" "" "0000116672" "0" "95" "1" "17349132" "17349132" "subst" "0" "01713" "SDHB_000162" "g.17349132T>A" "" "{PMID:Neumann:19351833}" "" "" "affects highly conserved Fe-S cluster" "Germline" "" "" "0" "" "" "g.17022637T>A" "" "VUS" "" "0000116673" "0" "57" "1" "17349124" "17349124" "subst" "0" "01713" "SDHB_000128" "g.17349124G>C" "" "{PMID:Persu:18551016}" "" "p.N248K" "affects highly conserved Fe-S cluster. Highly conserved, uncharged polar to polar charged AA, medium Grantham score (94). Likely pathogenic in opinion of curator" "Germline" "" "" "0" "" "" "g.17022629G>C" "" "likely pathogenic" "" "0000116674" "0" "57" "1" "17349123" "17349123" "subst" "0" "01713" "SDHB_000187" "g.17349123A>C" "" "{PMID:Burnichon:19454582}" "" "p.Cys249Gly" "Affects highly conserved Fe-S cluster. Highly conserved, high Grantham score (154). Likely pathogenic in opinion of curator" "Germline" "" "" "0" "" "" "g.17022628A>C" "" "likely pathogenic" "" "0000116675" "0" "57" "1" "17349122" "17349122" "subst" "0" "01713" "SDHB_000188" "g.17349122C>T" "" "{PMID:Burnichon:19454582}" "" "p.Cys249Tyr" "affects highly conserved Fe-S cluster" "Germline" "" "" "0" "" "" "g.17022627C>T" "" "VUS" "" "0000116676" "1" "77" "1" "17349121" "17349121" "subst" "0" "01713" "SDHB_000061" "g.17349121G>T" "" "{PMID:Neumann:15328326}, {PMID:Neumann:12000816}" "" "881C/A (Cys249>Stop)" "" "Germline" "" "" "0" "" "" "g.17022626G>T" "" "pathogenic" "" "0000116677" "0" "97" "1" "17349111" "17349111" "del" "0" "01713" "SDHB_000217" "g.17349111del" "" "{PMID: Lee:20563860}" "" "" "" "Germline" "" "" "0" "" "" "g.17022616del" "" "pathogenic" "" "0000116678" "1" "79" "1" "17349110" "17349110" "subst" "0" "01713" "SDHB_000083" "g.17349110C>T" "" "{PMID:Amar:17652212}, {PMID:Amar:16314641}" "" "" "affects highly conserved Fe-S cluster" "Germline" "" "" "0" "" "" "g.17022615C>T" "" "pathogenic" "" "0000116679" "0" "79" "1" "17349110" "17349110" "subst" "0" "01713" "SDHB_000083" "g.17349110C>T" "" "{PMID:Burnichon:19454582}" "" "p.Cys253Tyr" "LOH at SDHB locus; SDHB protein expression=0, affects highly conserved Fe-S cluster" "Germline" "" "" "0" "" "" "g.17022615C>T" "" "pathogenic" "" "0000116680" "1" "57" "1" "17349107" "17349107" "subst" "0" "01713" "SDHB_000104" "g.17349107G>A" "" "{PMID:Lima:17848412}" "" "" "affects highly conserved Fe-S cluster" "Germline" "" "" "0" "" "" "g.17022612G>A" "" "likely pathogenic" "" "0000116681" "0" "57" "1" "17349107" "17349107" "subst" "0" "01713" "SDHB_000104" "g.17349107G>A" "" "{PMID:Burnichon:19454582}" "" "p.Pro254Leu" "affects highly conserved Fe-S cluster" "Germline" "" "" "0" "" "" "g.17022612G>A" "" "VUS" "" "0000116682" "1" "77" "1" "17349108" "17349108" "dup" "0" "01713" "SDHB_000084" "g.17349108dup" "" "{PMID:Benn:16317055}" "" "p.Pro254fsX255" "affects highly conserved Fe-S cluster" "Germline" "?" "" "0" "" "" "g.17022613dup" "" "pathogenic" "" "0000116683" "0" "57" "1" "17349105" "17349105" "subst" "0" "01713" "SDHB_000189" "g.17349105T>C" "" "{PMID:Burnichon:19454582}" "" "p.Lys255Glu" "SDHB protein expression = 0, affects highly conserved Fe-S cluster" "Germline" "" "" "0" "" "" "g.17022610T>C" "" "likely pathogenic" "" "0000116684" "0" "53" "1" "17349074" "17349074" "subst" "0.000499955" "01713" "SDHB_000190" "g.17349074C>T" "" "{PMID:Burnichon:19454582}" "" "" "Allelic freq: controls 0/200; patients 2/650" "Germline" "" "" "0" "" "" "g.17022579C>T" "" "VUS" "" "0000116685" "0" "77" "1" "17349102" "17349102" "subst" "0" "01713" "SDHB_000062" "g.17349102C>T" "" "{PMID:Neumann:15328326}" "" "IVS7 (899 +1 G/A Splicesite)" "" "Germline" "?" "" "0" "" "" "g.17022607C>T" "" "likely pathogenic" "" "0000116686" "0" "95" "1" "17345441" "17345441" "subst" "0" "01713" "SDHB_000163" "g.17345441C>G" "" "{PMID:Neumann:19351833}" "" "" "Moderately conserved, small uncharged polar to large polar AA, high Grantham score (125). VUS in opinion of curator" "Germline" "" "" "0" "" "" "g.17018946C>G" "" "VUS" "" "0000116687" "0" "97" "1" "17345441" "17345441" "del" "0" "01713" "SDHB_000148" "g.17345441del" "" "{PMID:Cascon:19258401}" "" "" "" "Germline" "" "" "0" "" "" "g.17018946del" "" "likely pathogenic" "" "0000116688" "0" "77" "1" "17345441" "17345441" "del" "0" "01713" "SDHB_000148" "g.17345441del" "" "{PMID:Neumann:19351833}" "" "" "" "Germline" "" "" "0" "" "" "g.17018946del" "" "likely pathogenic" "" "0000116689" "0" "55" "1" "17345346" "17345346" "subst" "8.13359E-5" "01043" "SDHB_000139" "g.17345346G>A" "" "" "" "" "3\' of translation stop codon - ex 8" "Unknown" "" "" "0" "" "" "g.17018851G>A" "" "VUS" "" "0000116885" "0" "77" "1" "17359638" "17359638" "subst" "0" "01713" "SDHB_000116" "g.17359638C>T" "" "{PMID:Burnichon:21784903}" "" "" "M 59 M c.203G>A p.Cys68Tyr 1 PHEO LOH" "Germline" "" "" "0" "" "" "g.17033143C>T" "" "pathogenic" "" "0000128239" "1" "77" "1" "17380462" "17380513" "del" "0" "01713" "SDHB_000275" "g.17380462_17380513del" "" "{PMID:Buffet:22517557}" "" "Deletion of exon 1" "" "Unknown" "" "" "0" "" "" "g.17053967_17054018del" "" "pathogenic" "" "0000128240" "1" "77" "1" "17349102" "17380665" "del" "0" "01713" "SDHB_000280" "g.(17345454_17349102)_(17380665_?)del" "" "{PMID:Buffet:22517557}" "" "Deletion of exon 1 - 7" "" "Germline" "?" "" "0" "" "" "" "" "pathogenic" "" "0000128241" "1" "50" "1" "17380473" "17380498" "dup" "0" "01713" "SDHB_000276" "g.17380473_17380498dup" "" "{PMID:Jafri:23072324}, {PMID:Miettinen:23282968}" "" "c. 17_42dup26, c.17_42dup" "Variant Error [ESYNTAX]: This genomic variant has an error (char 36: expected EOF). Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "g.17053978_17054003dup" "" "pathogenic" "" "0000128242" "1" "77" "1" "17380445" "17380445" "subst" "0" "01713" "SDHB_000274" "g.17380445G>A" "" "{PMID:Lefebvre:22517554}" "" "" "" "Unknown" "" "" "0" "" "" "g.17053950G>A" "" "pathogenic" "" "0000128243" "0" "77" "1" "17380442" "17383165" "del" "0" "01713" "SDHB_000245" "g.(17371384_17380442)_17383165del" "" "{PMID:Martins:24092654} {PMID:Weber:22573489}" "" "15678bp deletion in the SDHB gene, which encompasses the promoter and exon 1." "" "Germline" "?" "" "0" "" "" "" "" "pathogenic" "" "0000128244" "1" "77" "1" "17380442" "17383165" "dup" "0" "01713" "SDHB_000273" "g.(17371384_17380442)_17383165dup" "" "{PMID:Persu:22566194}" "" "Duplication, c.(?_ ? 151)_72 +?" "" "Germline" "?" "" "0" "" "" "" "" "likely pathogenic" "" "0000128245" "1" "90" "1" "17371255" "17380665" "del" "0" "01713" "SDHB_000202" "g.(17359641_17371255)_(17380665_?)del" "" "{PMID:Rattenberry:23666964}" "" "c.[-?_200+?del];[=]" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000128246" "3" "99" "1" "17371313" "17371313" "subst" "4.46889E-5" "01713" "SDHB_000244" "g.17371313T>A" "" "{PMID:Alston:22972948}, {PMID:Gronberg:27604842}, {PMID:Vanderver:27159321}, {PMID:Helman:26642834}" "" "p.(Asp48Val)" "Lowered levels on SDH histochemistry and low levels of SDHB protein. Possible mild variant found compound heterozygous and homozygous in Leukoencephalopathy due to Complex II Deficiency" "Germline" "yes" "" "0" "" "" "g.17044818T>A" "" "pathogenic" "" "0000128247" "0" "77" "1" "17371364" "17371370" "delins" "0" "01713" "SDHB_000271" "g.17371364_17371370delinsCC" "" "{PMID:Buffet:22517557}" "" "Frameshift & early stop in exon 2" "" "Unknown" "" "" "0" "" "" "g.17044869_17044875delinsCC" "" "likely pathogenic" "" "0000128248" "1" "50" "1" "17371298" "17371298" "subst" "0.000536258" "01713" "SDHB_000214" "g.17371298C>T" "" "{PMID:Burnichon:20923864}" "" "" "" "Unknown" "" "" "0" "" "" "g.17044803C>T" "" "VUS" "" "0000128249" "1" "90" "1" "17371255" "17371384" "del" "0" "01713" "SDHB_000268" "g.(17359641_17371255)_(17371384_17380442)del" "" "{PMID:Casey:24712571}, {PMID:Rattenberry:23666964}" "" "Deletion of exon 2, c.[73-?_200+?del];[=]" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000128250" "1" "50" "1" "17359642" "17359642" "subst" "0" "01713" "SDHB_000269" "g.17359642T>G" "" "{PMID:Kimura:24659481}" "" "IVS2-2A>C" "" "Unknown" "" "" "0" "" "" "g.17033147T>G" "" "VUS" "" "0000128251" "1" "57" "1" "17371302" "17371302" "del" "0" "01713" "SDHB_000270" "g.17371302del" "" "{PMID:Lefebvre:22517554}" "" "" "" "Unknown" "" "" "0" "" "" "g.17044808del" "" "pathogenic" "" "0000128252" "1" "90" "1" "17349102" "17371384" "del" "0" "01713" "SDHB_000279" "g.(17345454_17349102)_(17371384_17380442)del" "" "{PMID:Rattenberry:23666964}" "" "c.[73-?_765+?del];[=]" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000128253" "1" "50" "1" "17371376" "17371376" "subst" "2.03694E-5" "01713" "SDHB_000272" "g.17371376C>T" "" "{PMID:Dénes:25494863}" "" "" "LOH, but no loss of expression" "Unknown" "" "" "0" "" "" "g.17044881C>T" "" "likely benign" "" "0000128254" "1" "99" "1" "17359567" "17359567" "subst" "0" "01713" "SDHB_000265" "g.17359567A>G" "" "{PMID:Buffet:22517557}" "" "" "SDHB IHC negative" "Unknown" "" "" "0" "" "" "g.17033072A>G" "" "pathogenic" "" "0000128255" "1" "57" "1" "17355236" "17355239" "del" "0" "01713" "SDHB_000264" "g.17355236_17355239del" "" "{PMID:Buffet:22517557}" "" "Deletion near splicesite" "" "Unknown" "" "" "0" "" "" "g.17028741_17028744del" "" "pathogenic" "" "0000128256" "1" "77" "1" "17345217" "17359641" "del" "0" "01713" "SDHB_000173" "g.(?_17345217)_(17359641_17371255)del" "" "{PMID:Buffet:22517557}" "" "Deletion of exon 3 - 8" "" "Germline" "?" "" "0" "" "" "" "" "pathogenic" "" "0000128257" "1" "79" "1" "17359554" "17359641" "del" "0" "01713" "SDHB_000151" "g.(17355232_17359554)_(17359641_17371255)del" "" "{PMID:Casey:24712571}, {PMID:Jasperson:23934599}, {PMID:Papathomas:24096523}, {PMID:Gill:24150194}" "" "Deletion of exon 3, Exon 3 del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000128258" "1" "55" "1" "17359567" "17359567" "subst" "0" "01713" "SDHB_000266" "g.17359567A>T" "" "{PMID:Miettinen:23282968}" "" "" "Align GVGD: Class C55 (likely to affect function). Very similar AAs. Highly conserved, in highly conserved region close to 2FE-2S binding site. Low Grantham score (58)." "Unknown" "" "" "0" "" "" "g.17033072A>T" "" "VUS" "" "0000128259" "1" "50" "1" "17359602" "17360979" "delins" "0" "01713" "SDHB_000267" "g.17359602_17360979delinsN[?]" "" "{PMID:von Dobschuetz:25595276}" "" "c.201-1339_239delinsAluYb8" "" "Unknown" "" "" "0" "" "" "g.17033107_17034484delinsN[?]" "" "VUS" "" "0000128260" "1" "77" "1" "17355198" "17355198" "subst" "0" "01713" "SDHB_000262" "g.17355198C>T" "" "{PMID:Buffet:22517557}" "" "" "Align GVGD: Class C65. V. small nonpolar AA to large charged polar AA. Gly conserved in Escherichia coli, Vibrio cholerae, Mycobacterium bovis, Bacillus subtilis. SDHB IHC negative (protein loss)" "Unknown" "" "" "0" "" "" "g.17028703C>T" "" "pathogenic" "" "0000128261" "1" "77" "1" "17355186" "17355186" "subst" "0" "01713" "SDHB_000261" "g.17355186A>C" "" "{PMID:Buffet:22517557}" "" "" "Align GVGD: Class C65 (most likely to affect function). Large nonpolar AA to large charged polar AA. Highly conserved, medium Grantham score (102). Located in highly conserved motief. Likely pathogenic in opinion of curator." "Unknown" "" "" "0" "" "" "g.17028691A>C" "" "pathogenic" "" "0000128262" "1" "57" "1" "17354343" "17354343" "del" "0" "01713" "SDHB_000259" "g.17354343del" "" "{PMID:Lefebvre:22517554}" "" "" "" "Unknown" "" "" "0" "" "" "g.17027848del" "" "pathogenic" "" "0000128263" "1" "50" "1" "17355218" "17355218" "del" "0" "01713" "SDHB_000263" "g.17355218del" "" "{PMID:Pantaleo:23612575}" "" "" "" "Unknown" "" "" "0" "" "" "g.17028723del" "" "pathogenic" "" "0000128264" "1" "77" "1" "17354320" "17354320" "subst" "0" "01713" "SDHB_000258" "g.17354320G>A" "" "{PMID:Buffet:22517557}" "" "" "Align GVGD: Class C65" "Unknown" "" "" "0" "" "" "g.17027825G>A" "" "likely pathogenic" "" "0000128265" "1" "77" "1" "17354279" "17354279" "subst" "0" "01713" "SDHB_000256" "g.17354279G>A" "" "{PMID:Buffet:22517557}" "" "" "" "Unknown" "" "" "0" "" "" "g.17027784G>A" "" "pathogenic" "" "0000128266" "1" "77" "1" "17354349" "17354349" "del" "0" "01713" "SDHB_000260" "g.17354349del" "" "{PMID:Buffet:22517557}" "" "Frameshift & early stop in exon 5" "" "Unknown" "" "" "0" "" "" "g.17027854del" "" "pathogenic" "" "0000128267" "1" "50" "1" "17354312" "17354312" "subst" "0" "01713" "SDHB_000257" "g.17354312T>A" "" "{PMID:Persu:22566194}" "" "c.472A > T p.K158X" "" "Unknown" "" "" "0" "" "" "g.17027817T>A" "" "pathogenic" "" "0000128268" "1" "55" "1" "17354254" "17354254" "subst" "3.2501E-5" "01713" "SDHB_000255" "g.17354254C>T" "" "{PMID:von Dobschuetz:25595276}" "" "" "HGMD: CM130559 pathogenic phenotype: pheochromocytoma, Alamut: Highly conserved nucleotide (phyloP: 0.84 (K5.2; 1.1)). Conserved in Escherichia coli, Vibrio cholerae, Mycobacterium bovis, Bacillus subtilis.\r\nLarge polar charged AA to large polar AA. Very low Grantham score (29). VUS." "Germline" "?" "rs150437793" "0" "" "" "g.17027759C>T" "" "VUS" "" "0000128269" "1" "50" "1" "17350484" "17350484" "subst" "0" "01713" "SDHB_000251" "g.17350484G>A" "" "{PMID:Buffet:22517557}" "" "" "Align GVGD: Class C65" "Unknown" "" "" "0" "" "" "g.17023989G>A" "" "VUS" "" "0000128270" "1" "57" "1" "17350512" "17350512" "subst" "0" "01713" "SDHB_000253" "g.17350512A>T" "" "{PMID:Buffet:22517557}" "" "[c.598T > A(+) c.603G > A; p.Trp200Arg (+) p.Trp201X]" "Conserved, highly conserved region. Intolerant in SIFT (0.0). Changes nonpolar to charged polar AA. Likely pathogenic in opinion of curator." "Unknown" "" "" "0" "" "" "g.17024017A>T" "" "likely pathogenic" "" "0000128271" "1" "50" "1" "17350469" "17350469" "subst" "0" "01713" "SDHB_000250" "g.17350469T>C" "" "{PMID:Kimura:24659481}" "" "" "Conserved, may be involved in binding UQ, changes uncharged to charged AA, low Grantham score (43). VUS." "Unknown" "" "" "0" "" "" "g.17023974T>C" "" "VUS" "" "0000128272" "1" "57" "1" "17349102" "17350570" "del" "0" "01713" "SDHB_000278" "g.(17345454_17349102)_(17350570_17354243)del" "" "{PMID:Lefebvre:22517554}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000128273" "1" "50" "1" "17350464" "17350464" "subst" "0" "01713" "SDHB_000249" "g.17350464T>C" "" "{PMID:Lefebvre:22517554}" "" "" "normal cDNA sequences" "Unknown" "" "" "0" "" "" "g.17023969T>C" "" "VUS" "" "0000128274" "1" "77" "1" "17350557" "17350557" "subst" "0" "01713" "SDHB_000254" "g.17350557C>A" "" "{PMID:Weber:22573489}" "" "" "" "Germline" "?" "" "0" "" "" "g.17024062C>A" "" "pathogenic" "" "0000128275" "1" "50" "1" "17345217" "17350570" "del" "0" "01713" "SDHB_000285" "g.(?_17345217)_(17350570_17354243)del" "" "{PMID:Dénes:25494863}" "" "del exons 6 to 8" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000128276" "1" "50" "1" "17349198" "17349198" "subst" "0" "01713" "SDHB_000277" "g.17349198C>G" "" "{PMID:Buffet:22517557}" "" "" "Align GVGD: Class C65" "Unknown" "" "" "0" "" "" "g.17022703C>G" "" "VUS" "" "0000128277" "1" "77" "1" "17349152" "17349152" "del" "0" "01713" "SDHB_000282" "g.17349152del" "" "{PMID:Iacobone:22136840}" "" "" "" "Germline" "?" "" "0" "" "" "g.17022657del" "" "pathogenic" "" "0000128278" "1" "57" "1" "17349120" "17349123" "dup" "0" "01713" "SDHB_000281" "g.17349120_17349123dup" "" "{PMID:Jafri:23072324}" "" "" "" "Unknown" "" "" "0" "" "" "g.17022625_17022628dup" "" "likely pathogenic" "" "0000128279" "1" "50" "1" "17349192" "17349204" "del" "0" "01713" "SDHB_000284" "g.17349192_17349204del" "" "{PMID:Kim:24134185}" "" "c.666-678del13" "" "Unknown" "" "" "0" "" "" "g.17022697_17022709del" "" "pathogenic" "" "0000128280" "1" "50" "1" "17349198" "17349198" "subst" "0" "01713" "SDHB_000277" "g.17349198C>G" "" "{PMID:Lefebvre:22517554}" "" "" "" "Unknown" "" "" "0" "" "" "g.17022703C>G" "" "VUS" "" "0000128281" "1" "50" "1" "17349152" "17349152" "subst" "5.27936E-5" "01713" "SDHB_000283" "g.17349152G>C" "" "{PMID:Muth:22270996}" "" "" "" "Unknown" "" "" "0" "" "" "g.17022657G>C" "" "VUS" "" "0000128282" "1" "70" "1" "17345449" "17345449" "dup" "0" "01713" "SDHB_000286" "g.17345449dup" "" "{PMID:Rattenberry:23666964}, {PMID:Dénes:25494863}" "" "c.[770dupT];[=]" "" "Unknown" "" "" "0" "" "" "g.17018954dup" "" "likely pathogenic" "" "0000128337" "2" "77" "1" "17350507" "17350507" "subst" "0" "01713" "SDHB_000252" "g.17350507C>T" "" "{PMID:Buffet:22517557}" "" "[c.598T > A(+) c.603G > A; p.Trp200Arg (+) p.Trp201X]" "" "Germline" "?" "" "0" "" "" "g.17024012C>T" "" "pathogenic" "" "0000129947" "0" "77" "1" "17350544" "17350544" "subst" "0" "01713" "SDHB_000126" "g.17350544C>A" "" "" "" "" "Iron-Sulfur binding site change, highly conserved" "Unknown" "" "" "0" "" "" "g.17024049C>A" "" "likely pathogenic" "" "0000140515" "0" "55" "1" "17349180" "17349180" "subst" "0" "01654" "SDHB_000100" "g.17349180G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.17022685G>C" "" "VUS" "" "0000147196" "3" "99" "1" "17371313" "17371313" "subst" "4.46889E-5" "01713" "SDHB_000244" "g.17371313T>A" "" "{PMID:Ardisonne 2015:26925370}, {PMID:Legati 2016:26968897}" "" "" "Reduced SDHB (and SDHA) protein levels, CII activity around 20%" "Germline" "yes" "" "0" "" "" "g.17044818T>A" "" "pathogenic" "" "0000148451" "0" "77" "1" "17375398" "17434636" "del" "0" "01713" "SDHB_000246" "g.17375398_17434636del" "" "{PMID:Hoekstra:27485256}" "" "SDHB Del promoter + exon 1, 59238bp" "Jugular PGL" "Germline" "?" "" "0" "" "" "g.17048903_17108141del" "" "pathogenic" "" "0000148452" "0" "77" "1" "17380111" "17381031" "del" "0" "01713" "SDHB_000247" "g.17380111_17381031del" "" "{PMID:Hoekstra:27485256}" "" "" "3019bp deletion" "Germline" "?" "" "0" "" "" "g.17053616_17054536del" "" "pathogenic" "" "0000148453" "0" "77" "1" "17361036" "17389084" "del" "0" "01713" "SDHB_000248" "g.17361036_17389084del" "" "{PMID:Hoekstra:27485256}" "" "SDHB Del promoter + exon 1+2, 28199bp" "" "Germline" "?" "" "0" "" "" "g.17034541_17062589del" "" "pathogenic" "" "0000150745" "0" "77" "1" "17355138" "17355138" "subst" "1.21839E-5" "01713" "SDHB_000072" "g.17355138A>C" "" "{PMID:Boikos:4929866}" "" "" "Paraganglioma, chondroma, and neuroblastoma in another family member" "Germline" "yes" "" "0" "" "" "g.17028643A>C" "" "likely pathogenic" "" "0000158311" "0" "77" "1" "17380442" "17380665" "" "0" "01713" "SDHB_000007" "g.(17371384_17380442)_(17380665_?)del" "" "{PMID:Bennedbaek:27279923}" "" "c.-1-?_72+?del" "" "Germline" "?" "" "0" "" "" "" "" "pathogenic" "" "0000163202" "10" "33" "1" "17345192" "17345217" "delins" "0" "00006" "SDHB_000000" "g.17345192_17345217delinsN[25]" "" "{PMID:Hernandez 2015:25800244}, {DOI:Hernandez 2015:10.1007/s00428-015-1755-2}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000239981" "0" "97" "1" "17371286" "17371290" "del" "0" "02355" "SDHB_000025" "g.17371286_17371290del" "" "" "" "300-4delCCTCA" "" "Germline" "?" "" "0" "" "" "g.17044792_17044796del" "" "pathogenic" "" "0000248069" "0" "30" "1" "17355218" "17355218" "subst" "0.00175074" "02325" "SDHB_000063" "g.17355218A>G" "" "" "" "SDHB(NM_003000.2):c.300T>C (p.S100=, p.(Ser100=)), SDHB(NM_003000.3):c.300T>C (p.S100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17028723A>G" "" "likely benign" "" "0000249769" "0" "57" "1" "17350475" "17350475" "subst" "0" "02325" "SDHB_000287" "g.17350475A>T" "" "" "" "SDHB(NM_003000.3):c.635T>A (p.L212H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17023980A>T" "" "VUS" "" "0000249944" "0" "30" "1" "17355218" "17355218" "subst" "0.00175074" "02329" "SDHB_000063" "g.17355218A>G" "" "" "" "SDHB(NM_003000.2):c.300T>C (p.S100=, p.(Ser100=)), SDHB(NM_003000.3):c.300T>C (p.S100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17028723A>G" "" "likely benign" "" "0000250027" "0" "30" "1" "17355075" "17355075" "subst" "0.00312894" "02329" "SDHB_000133" "g.17355075A>T" "" "" "" "SDHB(NM_003000.2):c.423+20T>A, SDHB(NM_003000.3):c.423+20T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17028580A>T" "" "likely benign" "" "0000250169" "0" "10" "1" "17354297" "17354297" "subst" "0.0121677" "02329" "SDHB_000038" "g.17354297A>G" "" "" "" "SDHB(NM_003000.2):c.487T>C (p.(Ser163Pro)), SDHB(NM_003000.3):c.487T>C (p.S163P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17027802A>G" "" "benign" "" "0000250740" "0" "10" "1" "17355218" "17355218" "subst" "0.00175074" "02326" "SDHB_000063" "g.17355218A>G" "" "" "" "SDHB(NM_003000.2):c.300T>C (p.S100=, p.(Ser100=)), SDHB(NM_003000.3):c.300T>C (p.S100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17028723A>G" "" "benign" "" "0000251694" "0" "30" "1" "17355075" "17355075" "subst" "0.00312894" "02326" "SDHB_000133" "g.17355075A>T" "" "" "" "SDHB(NM_003000.2):c.423+20T>A, SDHB(NM_003000.3):c.423+20T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17028580A>T" "" "likely benign" "" "0000253959" "0" "30" "1" "17355218" "17355218" "subst" "0.00175074" "01943" "SDHB_000063" "g.17355218A>G" "" "" "" "SDHB(NM_003000.2):c.300T>C (p.S100=, p.(Ser100=)), SDHB(NM_003000.3):c.300T>C (p.S100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17028723A>G" "" "likely benign" "" "0000295713" "0" "30" "1" "17354395" "17354397" "del" "0" "02330" "SDHB_000291" "g.17354395_17354397del" "" "" "" "SDHB(NM_003000.2):c.424-16_424-14del (p.(=)), SDHB(NM_003000.3):c.424-16_424-14delTTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17027900_17027902del" "" "likely benign" "" "0000298075" "0" "50" "1" "17371298" "17371298" "subst" "0.000536258" "02325" "SDHB_000214" "g.17371298C>T" "" "" "" "SDHB(NM_003000.2):c.158G>A (p.G53E), SDHB(NM_003000.3):c.158G>A (p.G53E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17044803C>T" "" "VUS" "" "0000298076" "0" "97" "1" "17349219" "17349219" "subst" "0" "02325" "SDHB_000086" "g.17349219G>A" "" "" "" "SDHB(NM_003000.3):c.649C>T (p.R217C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17022724G>A" "" "pathogenic" "" "0000299382" "0" "10" "1" "17380494" "17380494" "subst" "0.000454129" "02329" "SDHB_000009" "g.17380494G>A" "" "" "" "SDHB(NM_003000.2):c.21C>T (p.L7=), SDHB(NM_003000.3):c.21C>T (p.L7=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17053999G>A" "" "benign" "" "0000299383" "0" "10" "1" "17380491" "17380491" "subst" "0.00437221" "02329" "SDHB_000011" "g.17380491G>A" "" "" "" "SDHB(NM_003000.2):c.24C>T (p.S8=, p.(Ser8=)), SDHB(NM_003000.3):c.24C>T (p.S8=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17053996G>A" "" "benign" "" "0000299384" "0" "90" "1" "17355094" "17355094" "subst" "1.21891E-5" "02329" "SDHB_000047" "g.17355094C>T" "" "" "" "SDHB(NM_003000.2):c.423+1G>A, SDHB(NM_003000.3):c.423+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17028599C>T" "" "pathogenic" "" "0000299385" "0" "30" "1" "17354395" "17354397" "del" "0" "02329" "SDHB_000291" "g.17354395_17354397del" "" "" "" "SDHB(NM_003000.2):c.424-16_424-14del (p.(=)), SDHB(NM_003000.3):c.424-16_424-14delTTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17027900_17027902del" "" "likely benign" "" "0000299386" "0" "30" "1" "17354392" "17354397" "del" "0" "02329" "SDHB_000292" "g.17354392_17354397del" "" "" "" "SDHB(NM_003000.2):c.424-19_424-14delTTCTTC, SDHB(NM_003000.3):c.424-19_424-14delTTCTTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17027897_17027902del" "" "likely benign" "" "0000299387" "0" "30" "1" "17350567" "17350567" "subst" "0.00010625" "02329" "SDHB_000288" "g.17350567G>A" "" "" "" "SDHB(NM_003000.3):c.543C>T (p.D181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17024072G>A" "" "likely benign" "" "0000302005" "0" "10" "1" "17380653" "17380653" "subst" "0" "02326" "SDHB_000119" "g.17380653C>A" "" "" "" "SDHB(NM_003000.2):c.-139G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17054158C>A" "" "benign" "" "0000302006" "0" "30" "1" "17380547" "17380547" "subst" "0" "02326" "SDHB_000295" "g.17380547C>A" "" "" "" "SDHB(NM_003000.2):c.-33G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17054052C>A" "" "likely benign" "" "0000302007" "0" "10" "1" "17345346" "17345346" "subst" "8.13359E-5" "02326" "SDHB_000139" "g.17345346G>A" "" "" "" "SDHB(NM_003000.2):c.*30C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17018851G>A" "" "benign" "" "0000302008" "0" "90" "1" "17371255" "17371255" "subst" "0" "02326" "SDHB_000172" "g.17371255C>T" "" "" "" "SDHB(NM_003000.2):c.200+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17044760C>T" "" "pathogenic" "" "0000302009" "0" "10" "1" "17380494" "17380494" "subst" "0.000454129" "02326" "SDHB_000009" "g.17380494G>A" "" "" "" "SDHB(NM_003000.2):c.21C>T (p.L7=), SDHB(NM_003000.3):c.21C>T (p.L7=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17053999G>A" "" "benign" "" "0000302010" "0" "59" "1" "17359573" "17359573" "subst" "4.06233E-6" "02326" "SDHB_000001" "g.17359573G>A" "" "" "" "SDHB(NM_003000.2):c.268C>T (p.R90*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17033078G>A" "" "VUS" "" "0000302011" "0" "90" "1" "17355175" "17355175" "subst" "8.12236E-6" "02326" "SDHB_000042" "g.17355175G>A" "" "" "" "SDHB(NM_003000.2):c.343C>T (p.R115*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17028680G>A" "" "pathogenic" "" "0000302012" "0" "90" "1" "17355094" "17355094" "subst" "1.21891E-5" "02326" "SDHB_000047" "g.17355094C>T" "" "" "" "SDHB(NM_003000.2):c.423+1G>A, SDHB(NM_003000.3):c.423+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17028599C>T" "" "pathogenic" "" "0000302013" "0" "97" "1" "17354294" "17354294" "subst" "0" "02326" "SDHB_000289" "g.17354294G>A" "" "" "" "SDHB(NM_003000.2):c.490C>T (p.Q164*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17027799G>A" "" "pathogenic" "" "0000302014" "0" "75" "1" "17350484" "17350484" "subst" "0" "02326" "SDHB_000251" "g.17350484G>A" "" "" "" "SDHB(NM_003000.2):c.626C>T (p.P209L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17023989G>A" "" "likely pathogenic" "" "0000302015" "0" "90" "1" "17349215" "17349215" "subst" "0" "02326" "SDHB_000056" "g.17349215C>G" "" "" "" "SDHB(NM_003000.2):c.653G>C (p.(Trp218Ser), p.W218S), SDHB(NM_003000.3):c.653G>C (p.W218S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17022720C>G" "" "pathogenic" "" "0000302016" "0" "90" "1" "17349214" "17349214" "subst" "0" "02326" "SDHB_000186" "g.17349214C>T" "" "" "" "SDHB(NM_003000.2):c.654G>A (p.W218*), SDHB(NM_003000.3):c.654G>A (p.W218*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17022719C>T" "" "pathogenic" "" "0000307858" "0" "30" "1" "17380491" "17380491" "subst" "0.00437221" "01943" "SDHB_000011" "g.17380491G>A" "" "" "" "SDHB(NM_003000.2):c.24C>T (p.S8=, p.(Ser8=)), SDHB(NM_003000.3):c.24C>T (p.S8=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17053996G>A" "" "likely benign" "" "0000336835" "0" "90" "1" "17355094" "17355094" "subst" "1.21891E-5" "02327" "SDHB_000047" "g.17355094C>T" "" "" "" "SDHB(NM_003000.2):c.423+1G>A, SDHB(NM_003000.3):c.423+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17028599C>T" "" "pathogenic" "" "0000337348" "0" "30" "1" "17349090" "17349090" "subst" "0.000694828" "02327" "SDHB_000296" "g.17349090C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17022595C>T" "" "likely benign" "" "0000337349" "0" "30" "1" "17355075" "17355075" "subst" "0.00312894" "02327" "SDHB_000133" "g.17355075A>T" "" "" "" "SDHB(NM_003000.2):c.423+20T>A, SDHB(NM_003000.3):c.423+20T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17028580A>T" "" "likely benign" "" "0000337350" "0" "90" "1" "17371255" "17371255" "subst" "0" "02327" "SDHB_000172" "g.17371255C>T" "" "" "" "SDHB(NM_003000.2):c.200+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17044760C>T" "" "pathogenic" "" "0000339540" "0" "10" "1" "17355218" "17355218" "subst" "0.00175074" "02327" "SDHB_000063" "g.17355218A>G" "" "" "" "SDHB(NM_003000.2):c.300T>C (p.S100=, p.(Ser100=)), SDHB(NM_003000.3):c.300T>C (p.S100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17028723A>G" "" "benign" "" "0000339541" "0" "10" "1" "17380491" "17380491" "subst" "0.00437221" "02327" "SDHB_000011" "g.17380491G>A" "" "" "" "SDHB(NM_003000.2):c.24C>T (p.S8=, p.(Ser8=)), SDHB(NM_003000.3):c.24C>T (p.S8=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17053996G>A" "" "benign" "" "0000339542" "0" "10" "1" "17380497" "17380497" "subst" "0.973663" "02327" "SDHB_000008" "g.17380497G>T" "" "" "" "SDHB(NM_003000.2):c.18C>A (p.A6=), SDHB(NM_003000.3):c.18C>A (p.A6=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17054002G>T" "" "benign" "" "0000342264" "0" "97" "1" "17349219" "17349219" "subst" "0" "02327" "SDHB_000086" "g.17349219G>A" "" "" "" "SDHB(NM_003000.3):c.649C>T (p.R217C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17022724G>A" "" "pathogenic" "" "0000342384" "0" "90" "1" "17349143" "17349143" "subst" "8.12321E-6" "02327" "SDHB_000004" "g.17349143C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17022648C>T" "" "pathogenic" "" "0000343907" "0" "97" "1" "17355106" "17355106" "subst" "0" "02327" "SDHB_000228" "g.17355106C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17028611C>T" "" "pathogenic" "" "0000344296" "0" "97" "1" "17350536" "17350536" "subst" "0" "02327" "SDHB_000052" "g.17350536A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17024041A>G" "" "pathogenic" "" "0000344328" "0" "90" "1" "17349141" "17349141" "subst" "0" "02327" "SDHB_000112" "g.17349141A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17022646A>T" "" "pathogenic" "" "0000346831" "0" "55" "1" "17355229" "17355229" "subst" "0" "02327" "SDHB_000299" "g.17355229T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17028734T>A" "" "VUS" "" "0000348761" "0" "10" "1" "17354297" "17354297" "subst" "0.0121677" "02327" "SDHB_000038" "g.17354297A>G" "" "" "" "SDHB(NM_003000.2):c.487T>C (p.(Ser163Pro)), SDHB(NM_003000.3):c.487T>C (p.S163P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17027802A>G" "" "benign" "" "0000349732" "0" "90" "1" "17349215" "17349215" "subst" "0" "02327" "SDHB_000056" "g.17349215C>G" "" "" "" "SDHB(NM_003000.2):c.653G>C (p.(Trp218Ser), p.W218S), SDHB(NM_003000.3):c.653G>C (p.W218S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17022720C>G" "" "pathogenic" "" "0000350976" "0" "90" "1" "17355175" "17355175" "subst" "8.12236E-6" "02327" "SDHB_000042" "g.17355175G>A" "" "" "" "SDHB(NM_003000.2):c.343C>T (p.R115*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17028680G>A" "" "pathogenic" "" "0000438839" "0" "75" "1" "17349107" "17349107" "subst" "0" "01164" "SDHB_000104" "g.17349107G>A" "" "" "" "" "ACMG grading: PP1,PM1,PP3,PP5,PM2; Hermsen ; 2010. Cell Oncol 32: 275 germline mutation in paragnglioma/ carotid body tumor, VUS probably pathogenic; Lima (2007) J Clin Endocrinol Metab 92: 4853: germline mutation in cervical paragangliomas ; Niemeijer (2017) Eur J Endocrinol 177: 115: detected in dutch pateints with paragangliome, classified as pathogenic" "Germline" "" "rs948484408" "0" "" "" "g.17022612G>A" "" "VUS" "ACMG" "0000500507" "0" "97" "1" "17354339" "17354339" "subst" "0" "00643" "SDHB_000300" "g.17354339G>A" "" "{PMID:Fostira 2020:31300551}" "" "" "" "Germline" "" "" "0" "" "" "g.17027844G>A" "" "pathogenic" "" "0000504283" "0" "70" "1" "17345455" "17345455" "subst" "0" "02327" "SDHB_000301" "g.17345455T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17018960T>C" "" "likely pathogenic" "" "0000504284" "0" "30" "1" "17350451" "17350451" "subst" "0.00015858" "02327" "SDHB_000185" "g.17350451A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17023956A>G" "" "likely benign" "" "0000504285" "0" "90" "1" "17350522" "17350522" "subst" "0" "02327" "SDHB_000302" "g.17350522G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17024027G>T" "" "pathogenic" "" "0000504286" "0" "97" "1" "17354294" "17354294" "subst" "0" "02327" "SDHB_000289" "g.17354294G>A" "" "" "" "SDHB(NM_003000.2):c.490C>T (p.Q164*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17027799G>A" "" "pathogenic" "" "0000504287" "0" "10" "1" "17354297" "17354297" "subst" "0.0121677" "02325" "SDHB_000038" "g.17354297A>G" "" "" "" "SDHB(NM_003000.2):c.487T>C (p.(Ser163Pro)), SDHB(NM_003000.3):c.487T>C (p.S163P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17027802A>G" "" "benign" "" "0000504289" "0" "30" "1" "17355176" "17355176" "subst" "0" "02327" "SDHB_000304" "g.17355176G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17028681G>A" "" "likely benign" "" "0000504290" "0" "30" "1" "17355218" "17355218" "subst" "0.00175074" "01804" "SDHB_000063" "g.17355218A>G" "" "" "" "SDHB(NM_003000.2):c.300T>C (p.S100=, p.(Ser100=)), SDHB(NM_003000.3):c.300T>C (p.S100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17028723A>G" "" "likely benign" "" "0000504291" "0" "10" "1" "17371221" "17371221" "subst" "0.02705" "02327" "SDHB_000032" "g.17371221C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17044726C>T" "" "benign" "" "0000504292" "0" "90" "1" "17371313" "17371313" "subst" "4.46889E-5" "02325" "SDHB_000244" "g.17371313T>A" "" "" "" "SDHB(NM_003000.3):c.143A>T (p.D48V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17044818T>A" "" "pathogenic" "" "0000504303" "0" "30" "1" "17380483" "17380483" "subst" "0.000357011" "02330" "SDHB_000141" "g.17380483C>T" "" "" "" "SDHB(NM_003000.3):c.32G>A (p.R11H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17053988C>T" "" "likely benign" "" "0000504304" "0" "30" "1" "17380491" "17380491" "subst" "0.00437221" "01804" "SDHB_000011" "g.17380491G>A" "" "" "" "SDHB(NM_003000.2):c.24C>T (p.S8=, p.(Ser8=)), SDHB(NM_003000.3):c.24C>T (p.S8=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17053996G>A" "" "likely benign" "" "0000504305" "0" "10" "1" "17380497" "17380497" "subst" "0.973663" "02330" "SDHB_000008" "g.17380497G>T" "" "" "" "SDHB(NM_003000.2):c.18C>A (p.A6=), SDHB(NM_003000.3):c.18C>A (p.A6=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17054002G>T" "" "benign" "" "0000504306" "0" "10" "1" "17380497" "17380497" "subst" "0.973663" "02325" "SDHB_000008" "g.17380497G>T" "" "" "" "SDHB(NM_003000.2):c.18C>A (p.A6=), SDHB(NM_003000.3):c.18C>A (p.A6=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17054002G>T" "" "benign" "" "0000504307" "0" "10" "1" "17380497" "17380497" "subst" "0.973663" "02326" "SDHB_000008" "g.17380497G>T" "" "" "" "SDHB(NM_003000.2):c.18C>A (p.A6=), SDHB(NM_003000.3):c.18C>A (p.A6=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17054002G>T" "" "benign" "" "0000504308" "0" "10" "1" "17380497" "17380497" "subst" "0.973663" "02329" "SDHB_000008" "g.17380497G>T" "" "" "" "SDHB(NM_003000.2):c.18C>A (p.A6=), SDHB(NM_003000.3):c.18C>A (p.A6=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17054002G>T" "" "benign" "" "0000595662" "0" "79" "1" "17380494" "17380494" "del" "0" "01164" "SDHB_000010" "g.17380494del" "" "" "" "" "ACMG grading: PVS1,PM2; reported in Neumann 2004. JAMA 292: 943" "Germline" "" "" "0" "" "" "g.17053999del" "" "pathogenic" "ACMG" "0000599136" "1" "97" "1" "17349154" "17349155" "del" "0" "02355" "SDHB_000160" "g.17349154_17349155del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.17022659_17022660del" "" "pathogenic" "" "0000599138" "1" "95" "1" "17371262" "17371262" "subst" "0" "02355" "SDHB_000307" "g.17371262A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.17044767A>C" "" "likely pathogenic" "" "0000599141" "1" "79" "1" "17359567" "17359567" "subst" "0" "02355" "SDHB_000265" "g.17359567A>G" "" "" "" "" "SDHB IHC negative" "Germline" "" "" "0" "" "" "g.17033072A>G" "" "likely pathogenic" "" "0000599149" "1" "97" "1" "17355175" "17355175" "subst" "8.12236E-6" "02355" "SDHB_000042" "g.17355175G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.17028680G>A" "" "pathogenic" "" "0000599154" "1" "97" "1" "17350516" "17350516" "subst" "0" "02355" "SDHB_000077" "g.17350516G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.17024021G>T" "" "likely pathogenic" "" "0000599155" "1" "97" "1" "17349165" "17349165" "subst" "0" "02355" "SDHB_000137" "g.17349165G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.17022670G>A" "" "pathogenic" "" "0000599156" "1" "97" "1" "17349219" "17349219" "subst" "4.07063E-6" "02355" "SDHB_000305" "g.17349219G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.17022724G>C" "" "likely pathogenic" "" "0000599159" "1" "77" "1" "17355225" "17355225" "subst" "0" "02355" "SDHB_000069" "g.17355225C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.17028730C>T" "" "likely pathogenic" "" "0000599166" "1" "97" "1" "17354252" "17354252" "subst" "0" "02355" "SDHB_000306" "g.17354252C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.17027757C>A" "" "pathogenic" "" "0000604994" "0" "50" "1" "17371298" "17371298" "subst" "0.000536258" "01943" "SDHB_000214" "g.17371298C>T" "" "" "" "SDHB(NM_003000.2):c.158G>A (p.G53E), SDHB(NM_003000.3):c.158G>A (p.G53E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17044803C>T" "" "VUS" "" "0000620441" "0" "90" "1" "17371377" "17371377" "subst" "8.15288E-6" "02326" "SDHB_000006" "g.17371377G>A" "" "" "" "SDHB(NM_003000.2):c.79C>T (p.R27*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17044882G>A" "" "pathogenic" "" "0000647455" "1" "50" "1" "17354297" "17354297" "subst" "0.0121677" "03575" "SDHB_000038" "g.17354297A>G" "91/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 91 heterozygous; {DB:CLININrs33927012}" "Germline" "" "rs33927012" "0" "" "" "g.17027802A>G" "" "benign" "" "0000647456" "1" "50" "1" "17355075" "17355075" "subst" "0.00312894" "03575" "SDHB_000133" "g.17355075A>T" "38/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 38 heterozygous; {DB:CLININrs190139590}" "Germline" "" "rs190139590" "0" "" "" "g.17028580A>T" "" "VUS" "" "0000653811" "0" "33" "1" "17349159" "17349159" "subst" "8.93437E-5" "01943" "SDHB_000199" "g.17349159G>A" "" "" "" "SDHB(NM_003000.2):c.709C>T (p.P237S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17022664G>A" "" "likely benign" "" "0000653812" "0" "10" "1" "17354297" "17354297" "subst" "0.0121677" "02330" "SDHB_000038" "g.17354297A>G" "" "" "" "SDHB(NM_003000.2):c.487T>C (p.(Ser163Pro)), SDHB(NM_003000.3):c.487T>C (p.S163P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17027802A>G" "" "benign" "" "0000653813" "0" "77" "1" "17359635" "17359635" "subst" "0" "02327" "SDHB_000175" "g.17359635C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17033140C>A" "" "likely pathogenic" "" "0000659574" "0" "97" "1" "17359554" "17359554" "subst" "0" "01164" "SDHB_000091" "g.17359554C>T" "" "" "" "" "ACMG: PVS1,PM2,PP5; Carotid body paraganglioma left and glomus jugular paraganglioma right" "Germline" "" "rs786201063" "0" "" "" "g.17033059C>T" "" "likely pathogenic" "ACMG" "0000668981" "3" "50" "1" "17354297" "17354297" "subst" "0.0121677" "03575" "SDHB_000038" "g.17354297A>G" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 homozygous; {DB:CLININrs33927012}" "Germline" "" "rs33927012" "0" "" "" "g.17027802A>G" "" "benign" "" "0000668982" "3" "50" "1" "17355075" "17355075" "subst" "0.00312894" "03575" "SDHB_000133" "g.17355075A>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 homozygous; {DB:CLININrs190139590}" "Germline" "" "rs190139590" "0" "" "" "g.17028580A>T" "" "VUS" "" "0000675542" "0" "10" "1" "17354392" "17354397" "del" "0" "02326" "SDHB_000292" "g.17354392_17354397del" "" "" "" "SDHB(NM_003000.2):c.424-19_424-14delTTCTTC, SDHB(NM_003000.3):c.424-19_424-14delTTCTTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000682774" "0" "70" "1" "17350507" "17350507" "subst" "0" "03753" "SDHB_000252" "g.17350507C>T" "0.045" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000716992" "0" "90" "1" "17349215" "17349215" "subst" "0" "02325" "SDHB_000056" "g.17349215C>G" "" "" "" "SDHB(NM_003000.2):c.653G>C (p.(Trp218Ser), p.W218S), SDHB(NM_003000.3):c.653G>C (p.W218S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000716993" "0" "79" "1" "17350553" "17350553" "subst" "0" "02327" "SDHB_000107" "g.17350553C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000716994" "0" "53" "1" "17350569" "17350569" "subst" "4.08607E-6" "01943" "SDHB_000309" "g.17350569C>T" "" "" "" "SDHB(NM_003000.2):c.541G>A (p.D181N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000716995" "0" "57" "1" "17354344" "17354344" "subst" "0.000105722" "01943" "SDHB_000310" "g.17354344T>C" "" "" "" "SDHB(NM_003000.2):c.440A>G (p.Y147C), SDHB(NM_003000.3):c.440A>G (p.Y147C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000716996" "0" "30" "1" "17371298" "17371298" "subst" "0.000536258" "02327" "SDHB_000214" "g.17371298C>T" "" "" "" "SDHB(NM_003000.2):c.158G>A (p.G53E), SDHB(NM_003000.3):c.158G>A (p.G53E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717001" "0" "30" "1" "17380450" "17380450" "subst" "8.82902E-5" "01943" "SDHB_000215" "g.17380450C>G" "" "" "" "SDHB(NM_003000.2):c.65G>C (p.C22S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000788245" "0" "99" "1" "17345217" "17380665" "del" "0" "01713" "SDHB_000087" "g.(?_17345217)_(17380665_?)del" "" "" "" "whole gene deletion, c.(?_-151)_(*159_?)del" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788246" "0" "55" "1" "17345217" "17380665" "dup" "0" "01713" "SDHB_000311" "g.(?_17345217)_(17380665_?)dup" "" "" "" "whole gene duplication, c.(?_-151)_(*159_?)dup" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788247" "0" "99" "1" "17349102" "17380665" "del" "0" "01713" "SDHB_000280" "g.(17345454_17349102)_(17380665_?)del" "" "" "" "deletion of exons 1 to 7, c.(?_-151)_(765+1_766-1)del" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788248" "0" "99" "1" "17371255" "17380665" "del" "0" "01713" "SDHB_000202" "g.(17359641_17371255)_(17380665_?)del" "" "" "" "deletion of exons 1-2, c.(?_-151)_(200+1_201-1)del" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788249" "0" "99" "1" "17380442" "17380665" "del" "0" "01713" "SDHB_000007" "g.(17371384_17380442)_(17380665_?)del" "" "" "" "exon 1 deletion, c.(?_-151)_(72+1_73-1)del" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788250" "0" "55" "1" "17380584" "17380584" "subst" "0" "01713" "SDHB_000312" "g.17380584G>A" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely benign" "other" "0000788251" "0" "55" "1" "17380569" "17380569" "subst" "0" "01713" "SDHB_000313" "g.17380569G>A" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely benign" "other" "0000788252" "0" "55" "1" "17380545" "17380545" "subst" "0" "01713" "SDHB_000314" "g.17380545A>C" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely benign" "other" "0000788253" "0" "33" "1" "17380533" "17380533" "del" "0" "01713" "SDHB_000315" "g.17380533del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely benign" "other" "0000788254" "0" "77" "1" "17380512" "17380512" "subst" "0" "01713" "SDHB_000154" "g.17380512C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788255" "0" "77" "1" "17380512" "17380512" "subst" "0" "01713" "SDHB_000316" "g.17380512C>G" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788256" "0" "77" "1" "17380456" "17380507" "del" "0" "01713" "SDHB_000275" "g.17380456_17380507del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788257" "0" "33" "1" "17380501" "17380501" "subst" "1.70149E-5" "01713" "SDHB_000317" "g.17380501A>C" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Found 5 times in gnomAD" "SUMMARY record" "" "" "0" "" "" "" "" "likely benign" "other" "0000788258" "0" "99" "1" "17380500" "17380500" "dup" "0" "01713" "SDHB_000318" "g.17380500dup" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788259" "0" "99" "1" "17380480" "17380498" "del" "0" "01713" "SDHB_000109" "g.17380480_17380498del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788260" "0" "99" "1" "17380473" "17380498" "dup" "0" "01713" "SDHB_000276" "g.17380473_17380498dup" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788261" "0" "33" "1" "17380494" "17380494" "subst" "0.000454129" "01713" "SDHB_000009" "g.17380494G>A" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely benign" "other" "0000788262" "0" "11" "1" "17380491" "17380491" "subst" "0.00437221" "01713" "SDHB_000011" "g.17380491G>A" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "benign" "other" "0000788263" "0" "33" "1" "17380483" "17380483" "subst" "0.000357011" "01713" "SDHB_000141" "g.17380483C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely benign" "other" "0000788264" "0" "53" "1" "17380463" "17380463" "subst" "0" "01713" "SDHB_000319" "g.17380463G>A" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Poorly conserved, nonpolar AA in both cases, very low Grantham score (22). Likely benign in opinion of curator." "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788265" "0" "33" "1" "17380450" "17380450" "subst" "8.40859E-6" "01713" "SDHB_000320" "g.17380450C>A" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely benign" "other" "0000788266" "0" "77" "1" "17380445" "17380445" "subst" "0" "01713" "SDHB_000274" "g.17380445G>A" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788267" "0" "77" "1" "17380442" "17380442" "subst" "4.19953E-6" "01713" "SDHB_000171" "g.17380442C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788268" "0" "77" "1" "17380442" "17380442" "subst" "4.19953E-6" "01713" "SDHB_000065" "g.17380442C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788269" "0" "99" "1" "17371255" "17371384" "" "0" "01713" "SDHB_000268" "g.(17359641_17371255)_(17371384_17380442)del" "" "" "" "Exon 2 deletion" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788270" "0" "99" "1" "17345217" "17371384" "del" "0" "01713" "SDHB_000110" "g.(?_17345217)_(17371384_17380442)del" "" "" "" "deletion exons 2 to 8, c.(72+1_73-1)_(*159_?)del" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788271" "0" "77" "1" "17380437" "17380441" "del" "0" "01713" "SDHB_000321" "g.17380437_17380441del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788272" "0" "55" "1" "17371448" "17371448" "subst" "0" "01713" "SDHB_000322" "g.17371448C>A" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely benign" "other" "0000788273" "0" "99" "1" "17371405" "17371405" "subst" "0" "01713" "SDHB_000323" "g.17371405A>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788274" "0" "99" "1" "17371377" "17371377" "subst" "8.15288E-6" "01713" "SDHB_000006" "g.17371377G>A" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788275" "0" "77" "1" "17371364" "17371370" "delins" "0" "01713" "SDHB_000271" "g.17371364_17371370delinsCC" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788276" "0" "99" "1" "17371368" "17371368" "del" "4.06736E-6" "01713" "SDHB_000017" "g.17371368del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788277" "0" "77" "1" "17371363" "17371363" "dup" "0" "01713" "SDHB_000324" "g.17371363dup" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788278" "0" "57" "1" "17371344" "17371344" "subst" "2.43877E-5" "01713" "SDHB_000325" "g.17371344G>A" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788279" "0" "77" "1" "17371338" "17371338" "subst" "0" "01713" "SDHB_000018" "g.17371338T>C" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788281" "0" "99" "1" "17371320" "17371320" "subst" "0" "01713" "SDHB_000020" "g.17371320G>C" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788282" "0" "99" "1" "17371320" "17371320" "subst" "1.6253E-5" "01713" "SDHB_000021" "g.17371320G>A" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788283" "0" "99" "1" "17371319" "17371319" "subst" "4.06299E-6" "01713" "SDHB_000022" "g.17371319C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788284" "0" "99" "1" "17371315" "17371315" "subst" "0" "01713" "SDHB_000023" "g.17371315C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788285" "0" "99" "1" "17371302" "17371302" "del" "0" "01713" "SDHB_000270" "g.17371302del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788286" "0" "33" "1" "17371298" "17371298" "subst" "0.000536258" "01713" "SDHB_000214" "g.17371298C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely benign" "other" "0000788287" "0" "99" "1" "17371290" "17371293" "del" "0" "01713" "SDHB_000326" "g.17371290_17371293del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788288" "0" "99" "1" "17371286" "17371290" "del" "0" "01713" "SDHB_000025" "g.17371286_17371290del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788289" "0" "77" "1" "17371289" "17371289" "subst" "0" "01713" "SDHB_000066" "g.17371289G>A" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788290" "0" "99" "1" "17371273" "17371273" "subst" "0" "01713" "SDHB_000219" "g.17371273A>C" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788291" "0" "99" "1" "17359554" "17359641" "del" "0" "01713" "SDHB_000151" "g.(17355232_17359554)_(17359641_17371255)del" "" "" "" "Exon 3 deletion" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788292" "0" "99" "1" "17345217" "17359641" "del" "0" "01713" "SDHB_000173" "g.(?_17345217)_(17359641_17371255)del" "" "" "" "Deletion of exons 3 to 8" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788293" "0" "99" "1" "17371255" "17371255" "subst" "0" "01713" "SDHB_000172" "g.17371255C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788294" "0" "77" "1" "17371254" "17371254" "subst" "0" "01713" "SDHB_000327" "g.17371254A>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788295" "0" "55" "1" "17371249" "17371249" "subst" "3.25142E-5" "01713" "SDHB_000203" "g.17371249T>C" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788296" "0" "55" "1" "17359711" "17359711" "subst" "0" "01713" "SDHB_000328" "g.17359711G>A" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788297" "0" "55" "1" "17359664" "17359664" "subst" "4.08868E-6" "01713" "SDHB_000329" "g.17359664G>C" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788298" "0" "99" "1" "17359641" "17359641" "subst" "0" "01713" "SDHB_000174" "g.17359641C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788299" "0" "99" "1" "17359638" "17359638" "subst" "0" "01713" "SDHB_000116" "g.17359638C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788300" "0" "99" "1" "17359635" "17359635" "subst" "0" "01713" "SDHB_000175" "g.17359635C>A" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). SDHB IHC negative (protein loss)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788301" "0" "77" "1" "17359620" "17359620" "subst" "0" "01713" "SDHB_000330" "g.17359620T>C" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788302" "0" "57" "1" "17359603" "17359603" "subst" "0" "01713" "SDHB_000157" "g.17359603T>C" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Align GVGD: Class C55 (likely to affect function). Highly conserved. Lys conserved in Escherichia coli, Vibrio cholerae, Mycobacterium bovis, Bacillus subtilis. Variant changes positively charged Lys into negatively charged Glu. Other variant found in bacteria is positively charged Arg. Likely pathogenic in opinion of curator." "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788303" "0" "55" "1" "17359591" "17359591" "subst" "0" "01713" "SDHB_000331" "g.17359591C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Ultra conserved amino acid but v. low Grantham score (23). Asp to Asn changes a charged AA to an uncharged AA of similar size." "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788304" "0" "57" "1" "17359591" "17359591" "subst" "0" "01713" "SDHB_000332" "g.17359591C>A" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Highly conserved, intolerant in SIFT (0.0), v. high Grantham score (160). Likely pathogenic in opinion of curator." "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788305" "0" "99" "1" "17359586" "17359586" "del" "0" "01713" "SDHB_000333" "g.17359586del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788306" "0" "77" "1" "17359581" "17359581" "subst" "0" "01713" "SDHB_000037" "g.17359581A>G" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788307" "0" "99" "1" "17359573" "17359573" "subst" "4.06233E-6" "01713" "SDHB_000001" "g.17359573G>A" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788308" "0" "55" "1" "17359572" "17359572" "subst" "8.12473E-6" "01713" "SDHB_000099" "g.17359572C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Align GVGD: Class C65 (most likely to affect function). Similar AAs but Asn uncharged. Highly conserved, in highly conserved region close to 2FE-2S binding site. Medium to low Grantham score (86). VUS" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788309" "0" "99" "1" "17359567" "17359567" "subst" "0" "01713" "SDHB_000265" "g.17359567A>G" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). SDHB IHC negative (protein loss)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788613" "0" "99" "1" "17359564" "17359564" "subst" "0" "01713" "SDHB_000106" "g.17359564A>G" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Align GVGD: Class C65 (most likely to affect function). Small polar AA to large charged polar AA. Highly conserved, v. high Grantham score (180). Located in highly conserved 2Fe-2S binding region. Pathogenic in opinion of curator." "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788614" "0" "57" "1" "17359563" "17359563" "subst" "0" "01713" "SDHB_000146" "g.17359563C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Align GVGD: Class C65 (most likely to affect function). Small polar AA to large charged polar AA. Highly conserved, v. high Grantham score (180). Located in highly conserved 2Fe-2S binding region. Likely pathogenic in opinion of curator." "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788615" "0" "99" "1" "17359558" "17359559" "ins" "0" "01713" "SDHB_000206" "g.17359558_17359559insTAAG" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788616" "0" "77" "1" "17359555" "17359555" "subst" "1.21907E-5" "01713" "SDHB_000207" "g.17359555C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). SDHB IHC negative (protein loss)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788617" "0" "77" "1" "17359554" "17359554" "subst" "0" "01713" "SDHB_000091" "g.17359554C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788618" "0" "33" "1" "17359552" "17359552" "subst" "0" "01713" "SDHB_000334" "g.17359552C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely benign" "other" "0000788619" "0" "99" "1" "17345217" "17355232" "del" "0" "01713" "SDHB_000335" "g.(?_17345217)_(17355232_17359554)del" "" "" "" "deletion of exons 4 to 8, c.(286+1_287-1)_(*159_?)del" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788620" "0" "99" "1" "17354243" "17355232" "del" "0" "01713" "SDHB_000336" "g.(17350570_17354243)_(17355232_17359554)del" "" "" "" "Deletion of exons 4 & 5" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788621" "0" "77" "1" "17354243" "17355232" "dup" "0" "01713" "SDHB_000337" "g.(17350570_17354243)_(17355232_17359554)dup" "" "" "" "Duplication of exons 4 & 5" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788622" "0" "33" "1" "17355257" "17355257" "subst" "0.000506801" "01713" "SDHB_000338" "g.17355257T>C" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely benign" "other" "0000788623" "0" "99" "1" "17355234" "17355237" "del" "0" "01713" "SDHB_000264" "g.17355234_17355237del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788624" "0" "99" "1" "17355234" "17355234" "subst" "0" "01713" "SDHB_000339" "g.17355234G>C" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788625" "0" "77" "1" "17355233" "17355233" "subst" "0" "01713" "SDHB_000040" "g.17355233T>C" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788626" "0" "77" "1" "17355232" "17355232" "subst" "0" "01713" "SDHB_000340" "g.17355232C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788627" "0" "77" "1" "17355232" "17355232" "subst" "0" "01713" "SDHB_000103" "g.17355232C>G" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788628" "0" "77" "1" "17355231" "17355231" "subst" "8.13087E-6" "01713" "SDHB_000067" "g.17355231C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788629" "0" "77" "1" "17355226" "17355226" "subst" "0" "01713" "SDHB_000068" "g.17355226A>G" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788630" "0" "77" "1" "17355225" "17355225" "subst" "0" "01713" "SDHB_000069" "g.17355225C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788631" "0" "57" "1" "17355222" "17355222" "subst" "0" "01713" "SDHB_000070" "g.17355222C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Align GVGD: Class C65 (most likely to affect function). Very small polar AA to larger charged polar AA. Medium Grantham score (94). Located in highly conserved 2Fe-2S binding region. Gly conserved in Escherichia coli, Vibrio cholerae, Mycobacterium bovis, Bacillus subtilis. VUS/likely pathogenic in opinion of curator." "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788632" "0" "99" "1" "17355221" "17355221" "del" "0" "01713" "SDHB_000208" "g.17355221del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788633" "0" "77" "1" "17355220" "17355220" "subst" "0" "01713" "SDHB_000089" "g.17355220A>G" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788634" "0" "33" "1" "17355218" "17355218" "subst" "0.00175074" "01713" "SDHB_000063" "g.17355218A>G" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely benign" "other" "0000788635" "0" "77" "1" "17355216" "17355216" "subst" "0" "01713" "SDHB_000041" "g.17355216C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Align GVGD: Class C65 (most likely to affect function). Small polar AA to large nonpolar AA. Highly conserved, v. high Grantham score (194). Located in highly conserved 2Fe-2S binding region. VUS/likely pathogenic in opinion of curator." "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788636" "0" "55" "1" "17355213" "17355213" "subst" "0" "01713" "SDHB_000341" "g.17355213G>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Align GVGD: Class C65 (most likely to affect function). Small nonpolar AA to charged polar AA. Highly conserved, medium Grantham score (107). Located in highly conserved 2Fe-2S binding region. VUS in opinion of curator." "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788637" "0" "77" "1" "17355207" "17355207" "delins" "0" "01713" "SDHB_000071" "g.17355207delinsCC" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788638" "0" "55" "1" "17355202" "17355204" "del" "0" "01713" "SDHB_000176" "g.17355202_17355204del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788639" "0" "99" "1" "17355198" "17355198" "subst" "0" "01713" "SDHB_000262" "g.17355198C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788640" "0" "77" "1" "17355183" "17355193" "del" "0" "01713" "SDHB_000209" "g.17355183_17355193del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788641" "0" "99" "1" "17355186" "17355187" "del" "0" "01713" "SDHB_000177" "g.17355186_17355187del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788642" "0" "77" "1" "17355184" "17355186" "del" "0" "01713" "SDHB_000342" "g.17355184_17355186del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788643" "0" "55" "1" "17355186" "17355186" "subst" "0" "01713" "SDHB_000343" "g.17355186A>G" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Align GVGD: Class C65 (most likely to affect function). Nonpolar AA in both cases to charged polar AA. Highly conserved, medium Grantham score (107). Conserved in Escherichia coli, Vibrio cholerae, Mycobacterium bovis. Located in highly conserved motief. Likely pathogenic in opinion of curator." "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788644" "0" "99" "1" "17355186" "17355186" "subst" "0" "01713" "SDHB_000261" "g.17355186A>C" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788645" "0" "79" "1" "17355180" "17355180" "subst" "0" "01713" "SDHB_000210" "g.17355180C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR).Align GVGD: Class C65 (most likely to affect function). Small polar AA to large polar AA. Conserved in Escherichia coli, Vibrio cholerae, Mycobacterium bovis, Bacillus subtilis, v.high Grantham score (194). Located in highly conserved motief. Pathogenic in opinion of curator." "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788646" "0" "77" "1" "17355166" "17355179" "del" "0" "01713" "SDHB_000344" "g.17355166_17355179del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788647" "0" "77" "1" "17355175" "17355175" "subst" "8.12236E-6" "01713" "SDHB_000042" "g.17355175G>A" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788648" "0" "33" "1" "17355174" "17355174" "subst" "1.21837E-5" "01713" "SDHB_000345" "g.17355174C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Align GVGD: Class C65 (most likely to affect function). Large charge polar AA to large polar AA. Low Grantham score (43). Poorly conserved. VUS/Likely benign in opinion of curator." "SUMMARY record" "" "" "0" "" "" "" "" "likely benign" "other" "0000788649" "0" "33" "1" "17355153" "17355153" "subst" "0" "01713" "SDHB_000346" "g.17355153T>C" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely benign" "other" "0000788650" "0" "75" "1" "17355139" "17355139" "subst" "4.06134E-6" "01713" "SDHB_000347" "g.17355139T>G" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Align GVGD: Class C65 (most likely to affect function). Very similiar nonpolar AAs. Conserved, ultra low Grantham score (5). Valine and Leucine found in bacteria. SDHB IHC negative (protein loss). VUS? Likely benign? SDHB IHC is notoriously difficult except in experienced hands." "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788651" "0" "77" "1" "17355139" "17355139" "dup" "0" "01713" "SDHB_000211" "g.17355139dup" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788652" "0" "57" "1" "17355138" "17355138" "subst" "0" "01713" "SDHB_000043" "g.17355138A>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Align GVGD: Class C65 (most likely to affect function). Nonpolar AA to polar AA. Conserved in Escherichia coli, Vibrio cholerae, high Grantham score (149). VUS/Likely pathogenic in opinion of curator." "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788653" "0" "77" "1" "17355138" "17355138" "subst" "1.21839E-5" "01713" "SDHB_000072" "g.17355138A>C" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788654" "0" "55" "1" "17355135" "17355135" "subst" "0" "01713" "SDHB_000348" "g.17355135T>G" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Align GVGD: Class C65 (most likely to affect function). Moderately conserved, high Grantham score (144). SDHB IHC negative (protein loss). VUS in opinion of curator." "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788655" "0" "99" "1" "17355134" "17355134" "subst" "0" "01713" "SDHB_000349" "g.17355134G>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788656" "0" "99" "1" "17355126" "17355126" "del" "0" "01713" "SDHB_000045" "g.17355126del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788657" "0" "55" "1" "17355123" "17355123" "subst" "0" "01713" "SDHB_000046" "g.17355123T>G" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Highly conserved, in highly conserved motief, medium Grantham score. VUS in opinion of curator" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788658" "0" "33" "1" "17355116" "17355116" "subst" "0" "01713" "SDHB_000178" "g.17355116A>G" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely benign" "other" "0000788659" "0" "77" "1" "17355106" "17355106" "subst" "0" "01713" "SDHB_000228" "g.17355106C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788660" "0" "57" "1" "17355102" "17355102" "subst" "4.0618E-6" "01713" "SDHB_000350" "g.17355102A>C" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Conserved, highly conserved region. Changes nonpolar to charged polar AA, medium Grantham score (102). Likely pathogenic in opinion of curator." "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788661" "0" "77" "1" "17355100" "17355100" "subst" "1.2186E-5" "01713" "SDHB_000095" "g.17355100C>A" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788662" "0" "57" "1" "17355099" "17355099" "subst" "0" "01713" "SDHB_000351" "g.17355099A>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Conserved, highly conserved region. Intolerant in SIFT (0.0). Changes nonpolar to charged polar AA. Very high Grantham score (152). Likely pathogenic in opinion of curator" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788663" "0" "99" "1" "17355095" "17355095" "del" "0" "01713" "SDHB_000352" "g.17355095del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788664" "0" "99" "1" "17355094" "17355094" "subst" "1.21891E-5" "01713" "SDHB_000047" "g.17355094C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788665" "0" "99" "1" "17355094" "17355094" "subst" "0" "01713" "SDHB_000073" "g.17355094C>G" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788666" "0" "33" "1" "17355075" "17355075" "subst" "0.00312894" "01713" "SDHB_000133" "g.17355075A>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely benign" "other" "0000788667" "0" "33" "1" "17355049" "17355049" "del" "2.85843E-5" "01713" "SDHB_000353" "g.17355049del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely benign" "other" "0000788668" "0" "77" "1" "17354363" "17354363" "subst" "0" "01713" "SDHB_000074" "g.17354363G>C" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788669" "0" "99" "1" "17354361" "17354361" "subst" "0" "01713" "SDHB_000049" "g.17354361C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788670" "0" "99" "1" "17354349" "17354349" "del" "0" "01713" "SDHB_000260" "g.17354349del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788671" "0" "55" "1" "17354348" "17354348" "subst" "0" "01713" "SDHB_000354" "g.17354348A>C" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Highly conserved residue. Only alternative amino acid residue found in bacteria is Met. Align GVGD: Class C45 (less likely to affect function). Both nonpolar AAs. Low Grantham score (50)." "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788672" "0" "33" "1" "17354344" "17354344" "subst" "0.000105722" "01713" "SDHB_000310" "g.17354344T>C" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Well conserved AA. No LOH found, SDHB IHC positive" "SUMMARY record" "" "" "0" "" "" "" "" "likely benign" "other" "0000788673" "0" "77" "1" "17354343" "17354343" "del" "0" "01713" "SDHB_000259" "g.17354343del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788674" "0" "77" "1" "17354339" "17354339" "subst" "0" "01713" "SDHB_000300" "g.17354339G>A" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788675" "0" "97" "1" "17354337" "17354337" "subst" "0" "01713" "SDHB_000355" "g.17354337C>A" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Conserved in Escherichia coli. SDHB IHC negative." "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788676" "0" "55" "1" "17354302" "17354322" "del" "0" "01713" "SDHB_000356" "g.17354302_17354322del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788677" "0" "77" "1" "17354320" "17354320" "subst" "0" "01713" "SDHB_000357" "g.17354320G>C" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Nonpolar AA to large charged polar AA. Conserved in Escherichia coli, Vibrio cholerae, Mycobacterium bovis" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788678" "0" "77" "1" "17354320" "17354320" "subst" "0" "01713" "SDHB_000258" "g.17354320G>A" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788679" "0" "57" "1" "17354314" "17354314" "subst" "0" "01713" "SDHB_000179" "g.17354314A>C" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Both nonpolar AAs but double ring structure of Trp much larger. Conserved in Escherichia coli, Vibrio cholerae, Mycobacterium bovis. Likely pathogenic in opinion of curator" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788680" "0" "53" "1" "17354297" "17354297" "subst" "0" "01713" "SDHB_000358" "g.17354297A>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Poorly conserved. Tolerant in SIFT (0.91). Polar uncharged AA unchanged. Likely benign in opinion of curator." "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788681" "0" "11" "1" "17354297" "17354297" "subst" "0.0121677" "01713" "SDHB_000038" "g.17354297A>G" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "benign" "other" "0000788682" "0" "77" "1" "17354294" "17354294" "subst" "0" "01713" "SDHB_000289" "g.17354294G>A" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788683" "0" "77" "1" "17354291" "17354291" "del" "0" "01713" "SDHB_000180" "g.17354291del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788684" "0" "99" "1" "17354282" "17354282" "dup" "0" "01713" "SDHB_000075" "g.17354282dup" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788685" "0" "99" "1" "17354279" "17354279" "subst" "0" "01713" "SDHB_000256" "g.17354279G>A" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788686" "0" "33" "1" "17354264" "17354264" "subst" "4.06217E-6" "01713" "SDHB_000359" "g.17354264T>C" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely benign" "other" "0000788687" "0" "99" "1" "17354252" "17354252" "subst" "0" "01713" "SDHB_000306" "g.17354252C>A" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788688" "0" "99" "1" "17354244" "17354244" "subst" "0" "01713" "SDHB_000360" "g.17354244C>G" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788689" "0" "77" "1" "17349102" "17350570" "del" "0" "01713" "SDHB_000278" "g.(17345454_17349102)_(17350570_17354243)del" "" "" "" "Deletion of exons 6 & 7" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788690" "0" "99" "1" "17354242" "17354242" "subst" "0" "01713" "SDHB_000181" "g.17354242A>G" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788691" "0" "99" "1" "17350569" "17350569" "subst" "0" "01713" "SDHB_000361" "g.17350569C>A" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788699" "0" "77" "1" "17350560" "17350566" "del" "0" "01713" "SDHB_000362" "g.17350560_17350566del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788700" "0" "77" "1" "17350564" "17350564" "del" "0" "01713" "SDHB_000182" "g.17350564del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788701" "0" "77" "1" "17350558" "17350558" "subst" "0" "01713" "SDHB_000363" "g.17350558G>C" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788702" "0" "33" "1" "17350558" "17350558" "subst" "5.30024E-5" "01713" "SDHB_000364" "g.17350558G>A" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely benign" "other" "0000788703" "0" "77" "1" "17350554" "17350554" "subst" "0" "01713" "SDHB_000365" "g.17350554A>G" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788704" "0" "99" "1" "17350553" "17350553" "subst" "0" "01713" "SDHB_000107" "g.17350553C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788705" "0" "77" "1" "17350549" "17350550" "del" "0" "01713" "SDHB_000366" "g.17350549_17350550del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788706" "0" "77" "1" "17350545" "17350545" "dup" "0" "01713" "SDHB_000367" "g.17350545dup" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788707" "0" "77" "1" "17350545" "17350545" "subst" "0" "01713" "SDHB_000183" "g.17350545A>G" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788708" "0" "77" "1" "17350538" "17350538" "subst" "0" "01713" "SDHB_000194" "g.17350538C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788709" "0" "77" "1" "17350536" "17350536" "subst" "0" "01713" "SDHB_000052" "g.17350536A>G" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788710" "0" "77" "1" "17350535" "17350535" "subst" "0" "01713" "SDHB_000076" "g.17350535C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788711" "0" "55" "1" "17350525" "17350527" "del" "0" "01713" "SDHB_000053" "g.17350525_17350527del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788712" "0" "99" "1" "17350523" "17350523" "subst" "0" "01713" "SDHB_000054" "g.17350523C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788713" "0" "99" "1" "17350523" "17350523" "subst" "0" "01713" "SDHB_000308" "g.17350523C>A" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788714" "0" "77" "1" "17350521" "17350521" "subst" "0" "01713" "SDHB_000102" "g.17350521G>A" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788715" "0" "55" "1" "17350520" "17350520" "subst" "4.06527E-6" "01713" "SDHB_000002" "g.17350520G>C" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Affects highly conserved Fe-S cluster. Conserved, highly conserved region. Intolerant in SIFT (0.0). Deletes proline. Changes nonpolar to charged polar AA." "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788716" "0" "99" "1" "17350519" "17350519" "del" "0" "01713" "SDHB_000003" "g.17350519del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788717" "0" "77" "1" "17350516" "17350516" "subst" "0" "01713" "SDHB_000077" "g.17350516G>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Abolishes growth in yeast model Guo J & Lemire B, JBC (2003) Vol. 278, No. 48, pp. 47629–47635." "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788718" "0" "99" "1" "17350509" "17350515" "del" "0" "01713" "SDHB_000368" "g.17350509_17350515del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788719" "0" "77" "1" "17350506" "17350515" "delins" "0" "01713" "SDHB_000369" "g.17350506_17350515delinsCC" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788720" "0" "99" "1" "17350507" "17350512" "delins" "0" "01713" "SDHB_000370" "g.17350507_17350512delinsTCACCT" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788721" "0" "77" "1" "17350510" "17350510" "subst" "0" "01713" "SDHB_000098" "g.17350510C>A" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788722" "0" "55" "1" "17350507" "17350507" "subst" "0" "01713" "SDHB_000371" "g.17350507C>A" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Conserved, but residue absent in bacteria." "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788723" "0" "55" "1" "17350493" "17350493" "subst" "0" "01713" "SDHB_000184" "g.17350493T>C" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Align GVGD: Class C65 (most likely to affect function). Both polar AAs. Highly conserved, v. high Grantham score (194). Located in highly conserved motief. Likely pathogenic in opinion of curator." "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788724" "0" "99" "1" "17350489" "17350490" "del" "0" "01713" "SDHB_000055" "g.17350489_17350490del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788725" "0" "97" "1" "17350487" "17350487" "subst" "0" "01713" "SDHB_000078" "g.17350487C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Likely pathogenic" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788726" "0" "59" "1" "17350484" "17350484" "subst" "0" "01713" "SDHB_000251" "g.17350484G>A" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). SDHB IHC neg. Presumably misclassified by NGSnPPGL." "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788727" "0" "77" "1" "17350467" "17350467" "subst" "0" "01713" "SDHB_000145" "g.17350467C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788728" "0" "77" "1" "17350467" "17350467" "subst" "0" "01713" "SDHB_000372" "g.17350467C>A" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788729" "0" "55" "1" "17350451" "17350451" "subst" "0.00015858" "01713" "SDHB_000185" "g.17350451A>G" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788730" "0" "77" "1" "17349227" "17349227" "subst" "0" "01713" "SDHB_000147" "g.17349227T>G" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788743" "0" "77" "1" "17349223" "17349223" "del" "0" "01713" "SDHB_000085" "g.17349223del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788744" "0" "55" "1" "17349219" "17349219" "subst" "0" "01713" "SDHB_000373" "g.17349219G>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Highly conserved, large charged polar to small polar uncharged AA, medium Grantham score (110). Likely pathogenic in opinion of curator" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788745" "0" "77" "1" "17349219" "17349219" "subst" "4.07063E-6" "01713" "SDHB_000305" "g.17349219G>C" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788746" "0" "77" "1" "17349219" "17349219" "subst" "0" "01713" "SDHB_000086" "g.17349219G>A" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788747" "0" "77" "1" "17349218" "17349218" "subst" "0" "01713" "SDHB_000374" "g.17349218C>G" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788748" "0" "55" "1" "17349218" "17349218" "subst" "4.06888E-6" "01713" "SDHB_000159" "g.17349218C>A" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788749" "0" "77" "1" "17349214" "17349214" "subst" "0" "01713" "SDHB_000186" "g.17349214C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788750" "0" "55" "1" "17349214" "17349214" "subst" "0" "01713" "SDHB_000375" "g.17349214C>A" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Affects possible functional motief, UQ binding. Highly conserved, large nonpolar to small polar uncharged AA, extremely high Grantham score (215). Pathogenic/Likely pathogenic in opinion of curator" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788751" "0" "77" "1" "17349208" "17349208" "dup" "0" "01713" "SDHB_000057" "g.17349208dup" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788752" "0" "55" "1" "17349198" "17349198" "subst" "0" "01713" "SDHB_000277" "g.17349198C>G" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Highly conserved, charged polar to uncharged polar AA, low Grantham score (81). VUS in opinion of curator" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788753" "0" "77" "1" "17349182" "17349183" "ins" "0" "01713" "SDHB_000213" "g.17349182_17349183ins13" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788754" "0" "55" "1" "17349180" "17349180" "subst" "0" "01713" "SDHB_000100" "g.17349180G>C" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788755" "0" "99" "1" "17349180" "17349180" "subst" "4.06184E-6" "01713" "SDHB_000058" "g.17349180G>A" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788756" "0" "99" "1" "17349179" "17349179" "subst" "4.06177E-6" "01713" "SDHB_000108" "g.17349179C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788757" "0" "77" "1" "17349179" "17349179" "subst" "4.06177E-6" "01713" "SDHB_000123" "g.17349179C>A" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788758" "0" "33" "1" "17349168" "17349168" "subst" "0.000129969" "01713" "SDHB_000376" "g.17349168G>A" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely benign" "other" "0000788759" "0" "77" "1" "17349167" "17349167" "subst" "0" "01713" "SDHB_000377" "g.17349167A>G" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788760" "0" "53" "1" "17349164" "17349164" "subst" "0" "01713" "SDHB_000378" "g.17349164T>C" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788761" "0" "53" "1" "17349162" "17349162" "subst" "0" "01713" "SDHB_000379" "g.17349162C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788762" "0" "55" "1" "17349158" "17349158" "subst" "0" "01713" "SDHB_000380" "g.17349158G>C" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788763" "0" "99" "1" "17349155" "17349155" "del" "4.06101E-6" "01713" "SDHB_000082" "g.17349155del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788764" "0" "77" "1" "17349149" "17349150" "del" "0" "01713" "SDHB_000160" "g.17349149_17349150del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788765" "0" "77" "1" "17349147" "17349150" "del" "0" "01713" "SDHB_000081" "g.17349147_17349150del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788766" "0" "77" "1" "17349145" "17349145" "subst" "0" "01713" "SDHB_000381" "g.17349145G>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788767" "0" "77" "1" "17349144" "17349144" "subst" "0" "01713" "SDHB_000161" "g.17349144G>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788768" "0" "77" "1" "17349144" "17349144" "subst" "0" "01713" "SDHB_000060" "g.17349144G>A" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788769" "0" "77" "1" "17349144" "17349144" "del" "0" "01713" "SDHB_000382" "g.17349144del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788770" "0" "99" "1" "17349143" "17349143" "subst" "8.12321E-6" "01713" "SDHB_000004" "g.17349143C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788771" "0" "99" "1" "17349128" "17349128" "subst" "0" "01713" "SDHB_000383" "g.17349128A>C" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Conserved to level of fungi and some bacteria. Two independant tumors both SDHB IHC negative." "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788772" "0" "55" "1" "17349123" "17349123" "subst" "0" "01713" "SDHB_000187" "g.17349123A>C" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR).Affects highly conserved Fe-S cluster. Highly conserved, high Grantham score (154). Likely pathogenic in opinion of curator" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788773" "0" "77" "1" "17349120" "17349123" "dup" "0" "01713" "SDHB_000281" "g.17349120_17349123dup" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788774" "0" "55" "1" "17349122" "17349122" "subst" "0" "01713" "SDHB_000188" "g.17349122C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Affects 3FE-4S binding site. Highly conserved, small uncharged polar to large polar AA, v. high Grantham score (194). Likely pathogenic/Pathogenic in opinion of curator" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788775" "0" "59" "1" "17349122" "17349122" "subst" "0" "01713" "SDHB_000384" "g.17349122C>A" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Affects 3FE-4S binding site. Highly conserved, small uncharged polar to large nonpolar AA, v. high Grantham score (205). Likely pathogenic/Pathogenic in opinion of curator" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788776" "0" "99" "1" "17349110" "17349110" "subst" "0" "01713" "SDHB_000083" "g.17349110C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000788777" "0" "55" "1" "17349107" "17349107" "subst" "0" "01713" "SDHB_000104" "g.17349107G>A" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788778" "0" "55" "1" "17349105" "17349105" "subst" "0" "01713" "SDHB_000189" "g.17349105T>C" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788779" "0" "33" "1" "17349099" "17349099" "del" "0" "01713" "SDHB_000385" "g.17349099del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely benign" "other" "0000788780" "0" "55" "1" "17349090" "17349090" "subst" "0.000694828" "01713" "SDHB_000296" "g.17349090C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788781" "0" "55" "1" "17349087" "17349087" "subst" "0" "01713" "SDHB_000386" "g.17349087C>G" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000788782" "0" "33" "1" "17349074" "17349074" "subst" "0.000499955" "01713" "SDHB_000190" "g.17349074C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely benign" "other" "0000788783" "0" "77" "1" "17345217" "17345454" "del" "0" "01713" "SDHB_000387" "g.(?_17345217)_(17345454_17349102)del" "" "" "" "Exon 8 deletion" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788784" "0" "77" "1" "17345439" "17345439" "del" "0" "01713" "SDHB_000148" "g.17345439del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000788785" "0" "77" "1" "17345393" "17345393" "subst" "0" "01713" "SDHB_000388" "g.17345393T>C" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Poorly conserved but SDHB IHC neg. VUS?" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000791071" "0" "71" "1" "17380474" "17380474" "subst" "0" "01713" "SDHB_000389" "g.17380474G>A" "" "PMID: 31492822" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Mid GV score. Both similar nonpolar AAs. Poorly conserved, in poorly conserved region. Likely benign in opinion of curator." "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000791072" "0" "79" "1" "17371319" "17371319" "subst" "0" "01713" "SDHB_000390" "g.17371319C>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000791073" "0" "77" "1" "17371274" "17371274" "subst" "0" "01713" "SDHB_000391" "g.17371274T>G" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000791074" "0" "55" "1" "17355215" "17355215" "subst" "0" "01713" "SDHB_000392" "g.17355215A>C" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Conserved, affects 2Fe-2S site, changes small polar uncharged to very large nonpolar AA. Very high Grantham score (215). VUS/Likely pathogenic in opinion of curator." "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000791076" "0" "77" "1" "17355132" "17355132" "subst" "0" "01713" "SDHB_000393" "g.17355132G>A" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Both nonpolar AAs. Conserved in Escherichia coli, Vibrio cholerae, Mycobacterium bovis, Bacillus subtilis" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000791077" "0" "77" "1" "17355106" "17355106" "subst" "0" "01713" "SDHB_000228" "g.17355106C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Similar AAs but loses charge. Conserved in Escherichia coli, Vibrio cholerae, Mycobacterium bovis, Bacillus subtilis" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000791078" "0" "77" "1" "17350509" "17350509" "subst" "0" "01713" "SDHB_000394" "g.17350509A>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000791079" "0" "55" "1" "17350503" "17350503" "subst" "8.12744E-6" "01713" "SDHB_000395" "g.17350503C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Poorly conserved, but in highly conserved region. Intolerant in SIFT (0.03). Changes small nonpolar to large charged polar AA. VUS in opinion of curator." "SUMMARY record" "" "" "0" "" "" "" "" "VUS" "other" "0000791080" "0" "75" "1" "17349218" "17349218" "subst" "8.13776E-6" "01713" "SDHB_000396" "g.17349218C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000791083" "0" "77" "1" "17380473" "17380496" "dup" "0" "01713" "SDHB_000397" "g.17380473_17380496dup" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000791084" "0" "77" "1" "17380479" "17380479" "del" "0" "01713" "SDHB_000398" "g.17380479del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000791085" "0" "77" "1" "17371384" "17371384" "subst" "0" "01713" "SDHB_000399" "g.17371384C>T" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000791086" "0" "77" "1" "17371363" "17371378" "del" "0" "01713" "SDHB_000400" "g.17371363_17371378del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000791087" "0" "77" "1" "17371366" "17371369" "dup" "0" "01713" "SDHB_000401" "g.17371366_17371369dup" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000791088" "0" "99" "1" "17359638" "17371257" "del" "0" "01713" "SDHB_000402" "g.17359638_17371257del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000791089" "0" "77" "1" "17354339" "17354339" "del" "0" "01713" "SDHB_000403" "g.17354339del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000791090" "0" "77" "1" "17354331" "17354331" "del" "0" "01713" "SDHB_000404" "g.17354331del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000791091" "0" "77" "1" "17354281" "17354281" "dup" "0" "01713" "SDHB_000405" "g.17354281dup" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000791092" "0" "77" "1" "17354270" "17354270" "subst" "0" "01713" "SDHB_000406" "g.17354270G>A" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000791093" "0" "77" "1" "17350571" "17350571" "subst" "0" "01713" "SDHB_000051" "g.17350571T>C" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000791094" "0" "77" "1" "17350569" "17350569" "dup" "0" "01713" "SDHB_000407" "g.17350569dup" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000791095" "0" "77" "1" "17350473" "17350473" "dup" "0" "01713" "SDHB_000408" "g.17350473dup" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000791096" "0" "77" "1" "17350467" "17350467" "subst" "0" "01713" "SDHB_000409" "g.17350467C>G" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "other" "0000791117" "0" "77" "1" "17359554" "17380665" "del" "0" "01713" "SDHB_000410" "g.(17355232_17359554)_(17380665_?)del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000791118" "0" "77" "1" "17359554" "17359641" "del" "0" "01713" "SDHB_000151" "g.(17355232_17359554)_(17359641_17371255)del" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000791119" "0" "77" "1" "17350467" "17350570" "dup" "0" "01713" "SDHB_000411" "g.(17349226_17350467)_(17350570_17354243)dup" "" "" "" "" "Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "other" "0000798910" "0" "55" "1" "17349119" "17349119" "subst" "0" "02327" "SDHB_000412" "g.17349119G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000798911" "0" "50" "1" "17354254" "17354254" "subst" "3.2501E-5" "02327" "SDHB_000255" "g.17354254C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000798912" "0" "70" "1" "17355226" "17355226" "subst" "0" "02325" "SDHB_000068" "g.17355226A>G" "" "" "" "SDHB(NM_003000.3):c.292T>C (p.C98R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000830275" "0" "90" "1" "17349192" "17349204" "del" "0" "00006" "SDHB_000284" "g.17349192_17349204del" "" "{PMID:Kim 2021:33219105}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.17022697_17022709del" "" "pathogenic (dominant)" "" "0000830276" "0" "90" "1" "17355127" "17355127" "del" "0" "00006" "SDHB_000045" "g.17355127del" "" "{PMID:Kim 2021:33219105}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.17028632del" "" "pathogenic" "" "0000830277" "0" "90" "1" "17355127" "17355127" "del" "0" "00006" "SDHB_000045" "g.17355127del" "" "{PMID:Kim 2021:33219105}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.17028632del" "" "pathogenic" "" "0000830278" "0" "75" "1" "17350468" "17350468" "subst" "0" "00006" "SDHB_000413" "g.17350468C>A" "" "{PMID:Kim 2021:33219105}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.17023973C>A" "" "VUS" "" "0000830279" "0" "90" "1" "17349144" "17349144" "subst" "0" "00006" "SDHB_000060" "g.17349144G>A" "" "{PMID:Kim 2021:33219105}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.17022649G>A" "" "pathogenic (dominant)" "" "0000830280" "0" "90" "1" "17349111" "17349111" "del" "0" "00006" "SDHB_000217" "g.17349111del" "" "{PMID:Kim 2021:33219105}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.17022616del" "" "pathogenic" "" "0000857139" "0" "10" "1" "17345493" "17345493" "subst" "0.00126916" "02327" "SDHB_000414" "g.17345493G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000857140" "0" "50" "1" "17350475" "17350475" "subst" "0" "02329" "SDHB_000287" "g.17350475A>T" "" "" "" "SDHB(NM_003000.3):c.635T>A (p.L212H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882936" "0" "90" "1" "17349144" "17349144" "subst" "0" "02327" "SDHB_000060" "g.17349144G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000882937" "0" "10" "1" "17354297" "17354297" "subst" "0.0121677" "01804" "SDHB_000038" "g.17354297A>G" "" "" "" "SDHB(NM_003000.2):c.487T>C (p.(Ser163Pro)), SDHB(NM_003000.3):c.487T>C (p.S163P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000882938" "0" "50" "1" "17354344" "17354344" "subst" "0.000105722" "02325" "SDHB_000310" "g.17354344T>C" "" "" "" "SDHB(NM_003000.2):c.440A>G (p.Y147C), SDHB(NM_003000.3):c.440A>G (p.Y147C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882939" "0" "10" "1" "17354392" "17354397" "dup" "0" "02326" "SDHB_000226" "g.17354392_17354397dup" "" "" "" "SDHB(NM_003000.2):c.424-19_424-14dup (p.(=)), SDHB(NM_003000.2):c.424-19_424-14dupTTCTTC, SDHB(NM_003000.3):c.424-19_424-14dupTTCTTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000882943" "0" "90" "1" "17380499" "17380499" "del" "0" "02325" "SDHB_000415" "g.17380499del" "" "" "" "SDHB(NM_003000.3):c.16delG (p.A6Pfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000910842" "0" "90" "1" "17359573" "17359573" "subst" "4.06233E-6" "02327" "SDHB_000001" "g.17359573G>A" "" "" "" "SDHB(NM_003000.2):c.268C>T (p.R90*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000910846" "0" "10" "1" "17380507" "17380507" "subst" "0.00301393" "02326" "SDHB_000130" "g.17380507G>C" "" "" "" "SDHB(NM_003000.2):c.8C>G (p.A3G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000917199" "0" "55" "1" "17355139" "17355139" "subst" "0" "01713" "SDHB_000416" "g.17355139T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000917721" "0" "77" "1" "17355216" "17355216" "subst" "0" "01713" "SDHB_000041" "g.17355216C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000917723" "0" "77" "1" "17355215" "17355215" "subst" "0" "01713" "SDHB_000392" "g.17355215A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000923008" "0" "30" "1" "17349238" "17349238" "subst" "0" "02327" "SDHB_000417" "g.17349238G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923009" "0" "50" "1" "17354255" "17354255" "subst" "1.6251E-5" "02327" "SDHB_000418" "g.17354255G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927513" "3" "77" "1" "17345450" "17345450" "subst" "4.07007E-6" "01713" "SDHB_000419" "g.17345450G>C" "" "{PMID:Gronberg:27604842}" "" "" "Gronborg et al. Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000928065" "0" "50" "1" "17355138" "17355138" "subst" "0" "01804" "SDHB_000420" "g.17355138A>G" "" "" "" "SDHB(NM_003000.2):c.380T>C (p.(Ile127Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000932841" "0" "77" "1" "17350545" "17350545" "subst" "0" "01713" "SDHB_000421" "g.17350545A>C" "" "{PMID:Main:35498434}" "" "" "Right-sided parganglioma of the skull base of 93.553 cm3. A somatic deletion and loss of heterozygosity (LOH) of the short arm (p) of chromosome 1 (including SDHB) and p of chromosome 11 was found. Analysis showed an SDHB (c.565T>G, p.C189G) and PTEN (c.834C>G, p.F278L) missense mutation in tumor DNA." "Somatic" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000943930" "0" "57" "1" "17349138" "17349138" "subst" "0" "01713" "SDHB_000422" "g.17349138G>C" "" "{PMID:Carafone:37908983}" "" "" "Cardiac paraganglioma associated with somatic SDHD variant" "Somatic" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000945883" "0" "70" "1" "17355180" "17355180" "subst" "0" "03779" "SDHB_000210" "g.17355180C>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000947041" "0" "50" "1" "17345382" "17345382" "subst" "4.06296E-6" "01804" "SDHB_000423" "g.17345382T>C" "" "" "" "SDHB(NM_003000.2):c.837A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947042" "0" "90" "1" "17349214" "17349214" "subst" "0" "02325" "SDHB_000186" "g.17349214C>T" "" "" "" "SDHB(NM_003000.2):c.654G>A (p.W218*), SDHB(NM_003000.3):c.654G>A (p.W218*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000947043" "0" "30" "1" "17354392" "17354397" "dup" "0" "01804" "SDHB_000226" "g.17354392_17354397dup" "" "" "" "SDHB(NM_003000.2):c.424-19_424-14dup (p.(=)), SDHB(NM_003000.2):c.424-19_424-14dupTTCTTC, SDHB(NM_003000.3):c.424-19_424-14dupTTCTTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947044" "0" "30" "1" "17380426" "17380426" "subst" "0" "02327" "SDHB_000425" "g.17380426G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000952117" "0" "90" "1" "17354360" "17354360" "subst" "0" "04599" "SDHB_000424" "g.17354360C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.17027865C>A" "" "pathogenic" "ACMG" "0000960645" "0" "70" "1" "17349180" "17349180" "subst" "4.06184E-6" "02325" "SDHB_000058" "g.17349180G>A" "" "" "" "SDHB(NM_003000.3):c.688C>T (p.R230C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000960647" "0" "50" "1" "17359572" "17359572" "subst" "8.12473E-6" "02327" "SDHB_000099" "g.17359572C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000972082" "21" "90" "1" "17359642" "17359642" "subst" "0" "01468" "SDHB_000426" "g.17359642T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.17033147T>C" "" "pathogenic" "ACMG" "0000973466" "0" "30" "1" "17354395" "17354397" "dup" "0" "02329" "SDHB_000290" "g.17354395_17354397dup" "" "" "" "SDHB(NM_003000.3):c.424-16_424-14dupTTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990557" "0" "50" "1" "17349224" "17349224" "subst" "4.07528E-6" "01804" "SDHB_000427" "g.17349224G>A" "" "" "" "SDHB(NM_003000.2):c.644C>T (p.(Ala215Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990561" "0" "90" "1" "17371319" "17371319" "subst" "4.06299E-6" "02327" "SDHB_000022" "g.17371319C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000990562" "0" "50" "1" "17380443" "17380443" "subst" "0" "01804" "SDHB_000428" "g.17380443C>G" "" "" "" "SDHB(NM_003000.2):c.72G>C (p.(Gln24His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013239" "0" "30" "1" "17350504" "17350504" "subst" "2.43843E-5" "02327" "SDHB_000429" "g.17350504G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013240" "0" "90" "1" "17350510" "17350510" "subst" "0" "02327" "SDHB_000098" "g.17350510C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001013241" "0" "10" "1" "17354395" "17354397" "del" "0" "01804" "SDHB_000291" "g.17354395_17354397del" "" "" "" "SDHB(NM_003000.2):c.424-16_424-14del (p.(=)), SDHB(NM_003000.3):c.424-16_424-14delTTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001016691" "0" "90" "1" "17380442" "17380515" "del" "0" "04749" "SDHB_000430" "g.(17371384_17380442)_(17380515_?)del" "" "Yuen (unpublished)" "" "c.(?-1)(72+1_73-1)del" "" "Germline" "" "" "0" "" "" "g.(17044889_17053947)_(17054020_?)del" "" "pathogenic" "" "0001016799" "0" "77" "1" "17380514" "17380514" "subst" "0" "01713" "SDHB_000431" "g.17380514T>A" "" "{PMID:Jochmanova:28374168}" "" "" "p.Met1Leu, extra-adrenal parasympathetic, single case" "Germline" "?" "" "0" "" "" "" "" "likely pathogenic" "" "0001016807" "0" "77" "1" "17380514" "17380514" "subst" "0" "01713" "SDHB_000432" "g.17380514T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001024061" "0" "10" "1" "17354392" "17354397" "del" "0" "02327" "SDHB_000292" "g.17354392_17354397del" "" "" "" "SDHB(NM_003000.2):c.424-19_424-14delTTCTTC, SDHB(NM_003000.3):c.424-19_424-14delTTCTTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001024062" "0" "30" "1" "17354392" "17354397" "dup" "0" "02329" "SDHB_000226" "g.17354392_17354397dup" "" "" "" "SDHB(NM_003000.2):c.424-19_424-14dup (p.(=)), SDHB(NM_003000.2):c.424-19_424-14dupTTCTTC, SDHB(NM_003000.3):c.424-19_424-14dupTTCTTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024063" "0" "50" "1" "17359608" "17359608" "subst" "4.0625E-6" "02327" "SDHB_000433" "g.17359608T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024064" "0" "90" "1" "17371320" "17371320" "subst" "1.6253E-5" "02327" "SDHB_000021" "g.17371320G>A" "" "" "" "SDHB(NM_003000.2):c.136C>T (p.(Arg46Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001024065" "0" "70" "1" "17371337" "17371337" "subst" "0" "02326" "SDHB_000434" "g.17371337T>G" "" "" "" "SDHB(NM_003000.2):c.119A>C (p.K40T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001031484" "0" "70" "1" "17349215" "17349215" "subst" "0" "01804" "SDHB_000056" "g.17349215C>G" "" "" "" "SDHB(NM_003000.2):c.653G>C (p.(Trp218Ser), p.W218S), SDHB(NM_003000.3):c.653G>C (p.W218S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001031485" "0" "50" "1" "17349221" "17349221" "subst" "0" "01804" "SDHB_000435" "g.17349221T>C" "" "" "" "SDHB(NM_003000.3):c.647A>G (p.(Tyr216Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031488" "0" "50" "1" "17371279" "17371279" "subst" "0" "01804" "SDHB_000436" "g.17371279C>G" "" "" "" "SDHB(NM_003000.3):c.177G>C (p.(Gln59His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031489" "0" "90" "1" "17371320" "17371320" "subst" "1.6253E-5" "01804" "SDHB_000021" "g.17371320G>A" "" "" "" "SDHB(NM_003000.2):c.136C>T (p.(Arg46Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001031492" "0" "50" "1" "17380472" "17380472" "subst" "0" "01804" "SDHB_000437" "g.17380472C>T" "" "" "" "SDHB(NM_003000.2):c.43G>A (p.(Ala15Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045616" "0" "90" "1" "17354334" "17354334" "subst" "0" "02325" "SDHB_000438" "g.17354334G>C" "" "" "" "SDHB(NM_003000.3):c.450C>G (p.Y150*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001045618" "0" "90" "1" "17380432" "17380444" "del" "0" "01804" "SDHB_000439" "g.17380432_17380444del" "" "" "" "SDHB(NM_003000.2):c.72+1_72+13del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001047078" "0" "50" "1" "17349105" "17349105" "subst" "0" "03779" "SDHB_000189" "g.17349105T>C" "" "" "" "" "" "Unknown" "" "rs1570944737" "0" "" "" "" "" "VUS" "" "0001047194" "0" "30" "1" "17354026" "17354026" "subst" "0" "03779" "SDHB_000440" "g.17354026G>A" "" "" "" "" "" "Unknown" "" "rs6696035" "0" "" "" "" "" "likely benign" "" "0001048120" "0" "90" "1" "17355134" "17355134" "subst" "0" "03779" "SDHB_000349" "g.17355134G>T" "" "" "" "" "" "Unknown" "" "rs2101523059" "0" "" "" "" "" "pathogenic" "" "0001048769" "0" "70" "1" "17349179" "17349179" "subst" "4.06177E-6" "03779" "SDHB_000108" "g.17349179C>T" "" "" "" "" "" "Unknown" "" "rs587782604" "0" "" "" "" "" "likely pathogenic" "" "0001048779" "0" "30" "1" "17380483" "17380483" "subst" "0.000357011" "03779" "SDHB_000141" "g.17380483C>T" "" "" "" "" "" "Unknown" "" "rs111430410" "0" "" "" "" "" "likely benign" "" "0001049008" "0" "30" "1" "17354392" "17354397" "dup" "0" "03779" "SDHB_000226" "g.17354392_17354397dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0001049079" "0" "10" "1" "17354297" "17354297" "subst" "0.0121677" "03779" "SDHB_000038" "g.17354297A>G" "" "" "" "" "" "Unknown" "" "rs33927012" "0" "" "" "" "" "benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SDHB ## Count = 744 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/SIFT}}" "{{VariantOnTranscript/Consequence/Predicted}}" "{{VariantOnTranscript/Predict/MutationTaster}}" "{{VariantOnTranscript/Predict/AGVGD}}" "0000064196" "00018576" "90" "73" "-8" "73" "-8" "c.73-8A>G" "r.(=)" "p.(=)" "" "" "" "" "" "0000064197" "00018576" "10" "200" "33" "200" "33" "c.200+33G>A" "r.(=)" "p.(=)" "" "" "" "" "" "0000064198" "00018576" "53" "287" "-41" "287" "-41" "c.287-41C>T" "r.(=)" "p.(=)" "" "" "" "" "" "0000064199" "00018576" "55" "739" "0" "739" "0" "c.739A>G" "r.(?)" "p.(Met247Val)" "" "0.00" "missense" "0.903" "21.52" "0000064200" "00018576" "90" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Arg90*)" "" "" "" "" "" "0000064201" "00018576" "10" "24" "0" "24" "0" "c.24C>T" "r.(=)" "p.(=)" "" "" "" "" "" "0000064202" "00018576" "95" "541" "-2" "541" "-2" "c.541-2A>G" "r.spl?" "p.?" "" "" "splicing affected?" "" "" "0000064203" "00018576" "90" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Gln235*)" "" "" "" "" "" "0000116410" "00018576" "13" "-139" "0" "-139" "0" "c.-139G>T" "r.(=)" "p.(=)" "1" "" "" "" "" "0000116411" "00018576" "13" "-139" "0" "-139" "0" "c.-139G>T" "r.(=)" "p.(=)" "1" "" "" "" "" "0000116412" "00018576" "53" "-198" "0" "-198" "0" "c.-198G>A" "r.(=)" "p.(=)" "1" "" "" "" "" "0000116413" "00018576" "55" "-6" "0" "-6" "0" "c.-6G>A" "r.(=)" "p.(=)" "1" "" "" "" "" "0000116414" "00018576" "77" "-151" "0" "72" "1" "c.(?_-151)_(72+1_73-1)del" "r.spl?" "p.?" "1" "" "deletion, large" "" "" "0000116415" "00018576" "79" "-16418" "0" "73" "-5173" "c.-16418_73-5173del" "r.?" "p.(0?)" "1" "" "deletion, large" "" "" "0000116416" "00018576" "77" "-16416" "0" "72" "3877" "c.-16416_72+3877del" "r.?" "p.(0?)" "1" "" "deletion, large" "" "" "0000116417" "00018576" "77" "-10413" "0" "73" "-3866" "c.-10413_73-3866del" "r.?" "p.(0?)" "1" "" "deletion, large" "" "" "0000116418" "00018576" "77" "-10413" "0" "73" "-3866" "c.-10413_73-3866del" "r.?" "p.(0?)" "1" "" "deletion, large" "" "" "0000116419" "00018576" "77" "-151" "0" "72" "1" "c.(?_-151)_(72+1_73-1)del" "r.spl?" "p.?" "1" "" "deletion, large" "" "" "0000116420" "00018576" "77" "-151" "0" "72" "1" "c.(?_-151)_(72+1_73-1)del" "r.spl?" "p.?" "1" "" "deletion, large" "" "" "0000116421" "00018576" "99" "-151" "0" "200" "1" "c.(?_-151)_(200+1_201-1)del" "r.spl?" "p.?" "1_2i" "" "deletion, large" "" "" "0000116422" "00018576" "77" "-151" "0" "1002" "0" "c.(?_-151)_(*159_?)del" "r.?" "p.?" "1_8" "" "deletion, large" "" "" "0000116423" "00018576" "99" "-151" "0" "1002" "0" "c.(?_-151)_(*159_?)del" "r.?" "p.?" "1_8" "" "" "" "" "0000116424" "00018576" "99" "-151" "0" "1002" "0" "c.(?_-151)_(*159_?)del" "r.?" "p.?" "1_8" "" "" "" "" "0000116425" "00018576" "99" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.(Met1?)" "1" "" "nonsense" "" "" "0000116426" "00018576" "53" "8" "0" "8" "0" "c.8C>G" "r.(?)" "p.(Ala3Gly)" "1" "0.15" "missense" "0.564" "60.00" "0000116427" "00018576" "53" "8" "0" "8" "0" "c.8C>G" "r.(?)" "p.(Ala3Gly)" "1" "0.15" "missense" "" "" "0000116428" "00018576" "99" "17" "0" "35" "0" "c.17_35del" "r.(?)" "p.(Ala6Glyfs*65)" "1" "" "frameshift" "" "" "0000116429" "00018576" "99" "17" "0" "35" "0" "c.17_35del" "r.(?)" "p.(Ala6Glyfs*65)" "1" "" "frameshift" "" "" "0000116430" "00018576" "53" "18" "0" "18" "0" "c.18C>A" "r.(=)" "p.(=)" "1" "" "silent" "" "" "0000116431" "00018576" "99" "20" "0" "22" "0" "c.20_22delinsC" "r.(?)" "p.(Leu7Profs*55)" "1" "" "frameshift" "" "" "0000116432" "00018576" "53" "21" "0" "21" "0" "c.21C>T" "r.(=)" "p.(=)" "1" "" "silent" "" "" "0000116433" "00018576" "77" "21" "0" "21" "0" "c.21del" "r.(?)" "p.(Ser8Profs*2)" "1" "" "frameshift" "" "" "0000116434" "00018576" "53" "23" "0" "23" "0" "c.23C>T" "r.(?)" "p.(Ser8Phe)" "1" "0.14" "missense" "0,626" "154.81" "0000116435" "00018576" "51" "24" "0" "24" "0" "c.24C>T" "r.(=)" "p.(=)" "1" "" "" "" "" "0000116436" "00018576" "51" "32" "0" "32" "0" "c.32G>A" "r.(?)" "p.(Arg11His)" "1" "0.15" "missense" "0.627" "28.82" "0000116437" "00018576" "59" "44" "0" "45" "0" "c.44_45dup" "r.(?)" "p.(Thr16Profs*62)" "1" "" "frameshift" "" "" "0000116438" "00018576" "53" "49" "0" "49" "0" "c.49A>G" "r.(?)" "p.(Thr17Ala)" "1" "0.94" "missense" "0.600" "58.02" "0000116439" "00018576" "99" "49" "0" "49" "0" "c.49del" "r.(?)" "p.(Thr17Profs*60)" "1" "" "frameshift" "" "" "0000116440" "00018576" "13" "65" "0" "65" "0" "c.65G>C" "r.(?)" "p.(Cys22Ser)" "1" "0.53" "missense" "0.377" "204.39" "0000116441" "00018576" "77" "72" "1" "72" "1" "c.72+1G>A" "r.spl?" "p.(=)" "1i" "" "splicing affected?" "" "" "0000116442" "00018576" "77" "72" "1" "72" "1" "c.72+1G>T" "r.spl?" "p.(=)" "1i" "" "splicing affected?" "" "" "0000116443" "00018576" "77" "72" "1" "72" "1" "c.72+1G>T" "r.spl?" "p.(=)" "1i" "" "" "" "" "0000116444" "00018576" "99" "73" "0" "76" "0" "c.73_76del" "r.(?)" "p.(Ala25Profs*51)" "2" "" "frameshift" "" "" "0000116445" "00018576" "77" "72" "1" "72" "1" "c.72+1G>C" "r.spl?" "p.?" "1i" "" "splicing affected?" "" "" "0000116446" "00018576" "53" "73" "-111" "73" "-111" "c.73-111G>A" "r.(=)" "p.(=)" "1i" "" "" "" "" "0000116447" "00018576" "53" "73" "-29" "73" "-29" "c.73-29del" "r.(=)" "p.(=)" "1i" "" "" "" "" "0000116448" "00018576" "51" "73" "-9" "73" "-9" "c.73-9A>G" "r.spl?" "p.(=)" "1i" "" "" "" "" "0000116449" "00018576" "59" "73" "-1" "1002" "0" "c.(72+1_73-1)_(*159_?)del" "r.spl?" "p.(?)" "1i_8" "" "deletion, large" "" "" "0000116450" "00018576" "53" "79" "0" "79" "0" "c.79C>G" "r.(?)" "p.(Arg27Gly)" "2" "0.15" "missense" "0.614" "125.13" "0000116451" "00018576" "59" "79" "0" "79" "0" "c.79C>T" "r.(?)" "p.(Arg27*)" "2" "" "nonsense" "" "" "0000116452" "00018576" "99" "79" "0" "79" "0" "c.79C>T" "r.(?)" "p.(Arg27*)" "2" "" "nonsense" "" "" "0000116453" "00018576" "59" "79" "0" "79" "0" "c.79del" "r.(?)" "p.(Arg27Glufs*50)" "2" "" "frameshift" "" "" "0000116454" "00018576" "53" "88" "0" "90" "0" "c.88_90dup" "r.(?)" "p.(Gln30dup)" "2" "" "duplication" "" "" "0000116455" "00018576" "77" "88" "0" "89" "0" "c.88_89insCAGC" "r.(?)" "p.(Gln30Profs*34)" "2" "" "frameshift" "" "" "0000116456" "00018576" "59" "88" "0" "88" "0" "c.88del" "r.(?)" "p.(Gln30Argfs*47)" "2" "" "frameshift" "" "" "0000116457" "00018576" "59" "88" "0" "88" "0" "c.88del" "r.(?)" "p.(Gln30Argfs*47)" "2" "" "frameshift" "" "" "0000116458" "00018576" "59" "88" "0" "88" "0" "c.88del" "r.(?)" "p.(Gln30Argfs*47)" "2" "" "frameshift" "" "" "0000116459" "00018576" "99" "112" "0" "113" "0" "c.112_113ins2?" "r.(?)" "p.Arg38Profs*40" "2" "" "frameshift" "" "" "0000116460" "00018576" "77" "118" "0" "118" "0" "c.118A>G" "r.(?)" "p.(Lys40Glu)" "2" "0.00" "missense" "0.948" "56.87" "0000116461" "00018576" "97" "127" "0" "127" "0" "c.127G>C" "r.(?)" "p.(Ala43Pro)" "2" "0.03" "missense" "0.647" "26.87" "0000116462" "00018576" "93" "127" "0" "127" "0" "c.127G>C" "r.(?)" "p.(Ala43Pro)" "2" "" "missense" "" "" "0000116463" "00018576" "77" "131" "0" "131" "0" "c.131T>A" "r.(?)" "p.(Ile44Asn)" "2" "0.00" "missense" "0.924" "148.91" "0000116464" "00018576" "99" "136" "0" "136" "0" "c.136C>G" "r.(?)" "p.(Arg46Gly)" "2" "0.00" "missense" "0.932" "125.13" "0000116465" "00018576" "99" "136" "0" "136" "0" "c.136C>G" "r.(?)" "p.(Arg46Gly)" "2" "" "missense" "" "" "0000116466" "00018576" "59" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "2" "" "nonsense" "" "" "0000116467" "00018576" "77" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "2" "" "nonsense" "" "" "0000116468" "00018576" "79" "137" "0" "137" "0" "c.137G>A" "r.(?)" "p.(Arg46Gln)" "2" "0.00" "missense" "0.911" "85.11" "0000116469" "00018576" "79" "137" "0" "137" "0" "c.137G>A" "r.(?)" "p.(Arg46Gln)" "2" "" "" "" "" "0000116470" "00018576" "59" "141" "0" "141" "0" "c.141G>A" "r.(?)" "p.(Trp47*)" "2" "" "nonsense" "" "" "0000116471" "00018576" "53" "157" "0" "157" "0" "c.157G>A" "r.(?)" "p.(Gly53Arg)" "2" "0.06" "missense" "0.709" "125.13" "0000116472" "00018576" "33" "158" "0" "158" "0" "c.158G>A" "r.(?)" "p.(Gly53Glu)" "2" "0.25" "missense" "0.608" "97.85" "0000116473" "00018576" "59" "166" "0" "170" "0" "c.166_170del" "r.(?)" "p.(Pro56Tyrfs*5)" "2" "" "frameshift" "" "" "0000116474" "00018576" "59" "166" "0" "170" "0" "c.166_170del" "r.(?)" "p.(Pro56Tyrfs*5)" "2" "" "frameshift" "" "" "0000116475" "00018576" "77" "166" "0" "170" "0" "c.166_170del" "r.(?)" "p.(Pro56Tyrfs*5)" "2" "" "frameshift" "" "" "0000116476" "00018576" "77" "167" "0" "167" "0" "c.167C>T" "r.(?)" "p.(Pro56Leu)" "2" "0.00" "missense" "0.900" "97.78" "0000116477" "00018576" "77" "167" "0" "167" "0" "c.167C>T" "r.(?)" "p.(Pro56Leu)" "2" "0.00" "missense" "" "" "0000116478" "00018576" "11" "170" "0" "170" "0" "c.170A>G" "r.(?)" "p.(His57Arg)" "2" "1.00" "missense" "0.549" "28.82" "0000116479" "00018576" "59" "174" "0" "175" "0" "c.174_175delinsTT" "r.(?)" "p.(Met58_Val280delinsIle)" "2" "" "deletion, large" "" "" "0000116480" "00018576" "99" "183" "0" "183" "0" "c.183T>G" "r.(?)" "p.(Tyr61*)" "2" "" "" "" "" "0000116481" "00018576" "55" "194" "0" "194" "0" "c.194T>A" "r.(?)" "p.(Leu65His)" "2" "0.00" "missense" "0.984" "98.69" "0000116482" "00018576" "77" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Leu65Pro)" "2" "0.00" "missense" "0.979" "97.78" "0000116483" "00018576" "57" "200" "1" "200" "1" "c.200+1G>A" "r.spl?" "p.(?)" "2i" "" "splicing affected?" "" "" "0000116484" "00018576" "97" "200" "1" "200" "1" "c.200+1G>C" "r.spl?" "p.(?)" "2i" "" "splicing affected?" "" "" "0000116485" "00018576" "59" "200" "3" "200" "3" "c.200+3G>C" "r.spl?" "p.(?)" "2i" "" "splicing affected?" "" "" "0000116486" "00018576" "55" "200" "7" "200" "7" "c.200+7A>G" "r.(=)" "p.(=)" "2i" "" "" "" "" "0000116487" "00018576" "33" "200" "33" "200" "33" "c.200+33G>A" "r.(=)" "p.(=)" "2i" "" "" "" "" "0000116488" "00018576" "53" "200" "33" "200" "33" "c.200+33G>A" "r.(=)" "p.(=)" "2i" "" "" "" "" "0000116489" "00018576" "53" "200" "35" "200" "35" "c.200+35G>A" "r.(=)" "p.(=)" "2i" "" "" "" "" "0000116490" "00018576" "99" "201" "-4429" "287" "-934" "c.201-4429_287-934del" "r.(?)" "p.(?)" "2i_3i" "" "deletion, large" "" "" "0000116491" "00018576" "99" "201" "-1" "201" "-1" "c.201-1G>A" "r.spl?" "p.(?)" "2i" "" "splicing affected" "" "" "0000116492" "00018576" "99" "201" "-1" "286" "1" "c.(200+1_201-1)_(286+1_287-1)del" "r.spl?" "p.?" "2i_3i" "" "" "" "" "0000116493" "00018576" "99" "201" "-1" "286" "1" "c.(200+1_201-1)_(286+1_287-1)del" "r.spl?" "p.?" "2i_3i" "" "" "" "" "0000116494" "00018576" "99" "201" "-1" "286" "1" "c.(200+1_201-1)_(286+1_287-1)del" "r.spl?" "p.?" "2i_3i" "" "" "" "" "0000116495" "00018576" "57" "201" "-1" "286" "1" "c.(200+1_201-1)_(286+1_287-1)del" "r.spl?" "p.?" "2i_3i" "" "deletion, large" "" "" "0000116496" "00018576" "99" "201" "-1" "286" "1" "c.(200+1_201-1)_(286+1_287-1)del" "r.spl?" "p.?" "2i_3i" "" "" "" "" "0000116497" "00018576" "99" "201" "-1" "286" "1" "c.(200+1_201-1)_(286+1_287-1)dup" "r.spl?" "p.?" "2i_3i" "" "duplication, large" "" "" "0000116498" "00018576" "77" "201" "-1" "1002" "0" "c.(200+1_201-1)_(*159_?)del" "r.spl?" "p.?" "2i_8" "" "deletion, large" "" "" "0000116499" "00018576" "77" "203" "0" "203" "0" "c.203G>A" "r.(?)" "p.(Cys68Tyr)" "3" "0.01" "missense" "0.769" "191.23" "0000116500" "00018576" "77" "206" "0" "206" "0" "c.206G>T" "r.(?)" "p.(Gly69Val)" "3" "0.00" "missense" "0.957" "108.79" "0000116501" "00018576" "59" "210" "0" "210" "0" "c.210dup" "r.(?)" "p.(Met71Hisfs*10)" "3" "" "frameshift" "" "" "0000116502" "00018576" "99" "218" "0" "218" "0" "c.218T>A" "r.(?)" "p.(Leu73*)" "3" "" "nonsense" "" "" "0000116503" "00018576" "57" "238" "0" "238" "0" "c.238A>G" "r.(?)" "p.(Lys80Glu)" "3" "0.00" "missense" "0.972" "56.87" "0000116504" "00018576" "77" "260" "0" "260" "0" "c.260T>C" "r.(?)" "p.(Leu87Ser)" "3" "0.00" "missense" "0.956" "144.08" "0000116505" "00018576" "77" "260" "0" "260" "0" "c.260T>C" "r.(?)" "p.(Leu87Ser)" "3" "0.00" "missense" "" "" "0000116506" "00018576" "99" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Arg90*)" "3" "" "nonsense" "" "" "0000116507" "00018576" "99" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Arg90*)" "3" "" "nonsense" "" "" "0000116508" "00018576" "95" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Arg90*)" "3" "" "" "" "" "0000116509" "00018576" "99" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Arg90*)" "3" "" "" "" "" "0000116510" "00018576" "57" "269" "0" "269" "0" "c.269G>A" "r.(?)" "p.(Arg90Gln)" "3" "0.00" "missense" "0.918" "42.81" "0000116511" "00018576" "55" "269" "0" "269" "0" "c.269G>A" "r.(?)" "p.(Arg90Gln)" "3" "" "missense" "" "" "0000116512" "00018576" "57" "277" "0" "277" "0" "c.277T>C" "r.(?)" "p.(Cys93Arg)" "3" "0.00" "missense" "0.863" "179.53" "0000116513" "00018576" "55" "278" "0" "278" "0" "c.278G>A" "r.(?)" "p.(Cys93Tyr)" "3" "" "missense" "" "" "0000116514" "00018576" "55" "281" "0" "281" "0" "c.281G>A" "r.(?)" "p.(Arg94Lys)" "3" "0.00" "missense" "0.878" "26.00" "0000116515" "00018576" "79" "282" "0" "283" "0" "c.282_283insCTTA" "r.(?)" "p.(Glu95Leufs*25)" "3" "" "frameshift" "" "" "0000116516" "00018576" "79" "285" "0" "285" "0" "c.285del" "r.(?)" "p.(Gly96Alafs*8)" "3" "" "frameshift" "" "" "0000116517" "00018576" "77" "286" "0" "286" "0" "c.286G>A" "r.(?)" "p.(Gly96Ser)" "3" "0.00" "missense" "0.967" "55.27" "0000116518" "00018576" "77" "286" "1" "286" "1" "c.286+1G>A" "r.spl?" "p.(=)" "3i" "" "splicing affected?" "" "" "0000116519" "00018576" "57" "286" "2" "286" "2" "c.286+2T>A" "r.spl?" "p.(=)" "3i" "" "" "" "" "0000116520" "00018576" "57" "287" "-1" "287" "-1" "c.287-1G>C" "r.spl?" "p.(=)" "3i" "" "splicing affected" "" "" "0000116521" "00018576" "57" "287" "-2" "287" "-2" "c.287-2A>G" "r.spl?" "p.(=)" "3i" "" "splicing affected?" "" "" "0000116522" "00018576" "57" "287" "-2" "287" "-2" "c.287-2A>G" "r.spl?" "p.(=)" "3i" "" "splicing affected?" "" "" "0000116523" "00018576" "57" "287" "-1" "287" "-1" "c.287-1G>C" "r.spl?" "p.(=)" "3i" "" "splicing affected" "" "" "0000116524" "00018576" "77" "287" "0" "287" "0" "c.287G>A" "r.(?)" "p.(Gly96Asp)" "4" "0.00" "missense" "0.927" "93.77" "0000116525" "00018576" "57" "292" "0" "292" "0" "c.292T>C" "r.(?)" "p.(Cys98Arg)" "4" "0.00" "missense" "0.957" "179.53" "0000116526" "00018576" "57" "292" "0" "292" "0" "c.292T>C" "r.(?)" "p.(Cys98Arg)" "4" "" "missense" "" "" "0000116527" "00018576" "77" "293" "0" "293" "0" "c.293G>A" "r.(?)" "p.(Cys98Tyr)" "4" "0.00" "missense" "0.931" "193.72" "0000116528" "00018576" "57" "296" "0" "296" "0" "c.296G>A" "r.(?)" "p.(Gly99Asp)" "4" "" "" "" "" "0000116529" "00018576" "99" "297" "0" "297" "0" "c.297del" "r.(?)" "p.(Ser100Leufs*4)" "4" "" "" "" "" "0000116530" "00018576" "57" "298" "0" "298" "0" "c.298T>C" "r.(?)" "p.(Ser100Pro)" "4" "0.01" "missense" "0.976" "73.35" "0000116531" "00018576" "17" "299" "0" "299" "0" "c.299C>T" "r.(?)" "p.(Ser100Phe)" "4" "0.00" "missense" "0.926" "154.81" "0000116532" "00018576" "53" "300" "0" "300" "0" "c.300T>C" "r.(=)" "p.(=)" "4" "" "" "" "" "0000116533" "00018576" "53" "300" "0" "300" "0" "c.300T>C" "r.(=)" "p.(=)" "4" "" "" "" "" "0000116534" "00018576" "57" "302" "0" "302" "0" "c.302G>A" "r.(?)" "p.(Cys101Tyr)" "4" "" "missense" "" "" "0000116535" "00018576" "57" "311" "0" "311" "0" "c.311delinsGG" "r.(?)" "p.(Asn104Argfs*15)" "4" "" "" "" "" "0000116536" "00018576" "59" "312" "0" "313" "0" "c.312_313insCACTGCA" "r.(?)" "p.(Ile105Hisfs*16)" "4" "" "frameshift" "" "" "0000116537" "00018576" "55" "314" "0" "316" "0" "c.314_316del" "r.(?)" "p.(Ile105del)" "4" "" "" "" "" "0000116538" "00018576" "77" "325" "0" "335" "0" "c.325_335del" "r.(?)" "p.(Asn109Leufs*6)" "4" "" "frameshift" "" "" "0000116539" "00018576" "75" "328" "0" "328" "0" "c.328A>C" "r.(?)" "p.(Thr110Pro)" "4" "0.00" "missense" "0.966" "37.56" "0000116540" "00018576" "59" "331" "0" "332" "0" "c.331_332del" "r.(?)" "p.(Leu111Serfs*7)" "4" "" "frameshift" "" "" "0000116541" "00018576" "77" "331" "0" "331" "0" "c.331C>G" "r.(?)" "p.(Leu111Val)" "4" "0.02" "missense" "0.718" "31.78" "0000116542" "00018576" "77" "338" "0" "338" "0" "c.338G>A" "r.(?)" "p.(Cys113Tyr)" "4" "" "" "" "" "0000116543" "00018576" "77" "343" "0" "343" "0" "c.343C>T" "r.(?)" "p.(Arg115*)" "4" "" "nonsense" "" "" "0000116544" "00018576" "77" "343" "0" "343" "0" "c.343C>T" "r.(?)" "p.(Arg115*)" "4" "" "nonsense" "" "" "0000116545" "00018576" "77" "343" "0" "343" "0" "c.343C>T" "r.(?)" "p.(Arg115*)" "4" "" "nonsense" "" "" "0000116546" "00018576" "99" "343" "0" "343" "0" "c.343C>T" "r.(?)" "p.(Arg115*)" "4" "" "" "" "" "0000116547" "00018576" "55" "359" "0" "359" "0" "c.359A>G" "r.(?)" "p.(Asn120Ser)" "4" "0.57" "missense" "0.420" "46.24" "0000116548" "00018576" "59" "369" "0" "370" "0" "c.369_370insA" "r.(?)" "p.(Val124Serfs*31)" "4" "" "frameshift" "" "" "0000116549" "00018576" "97" "379" "0" "379" "0" "c.379dup" "r.(?)" "p.(Ile127Asnfs*28)" "4" "" "" "" "" "0000116550" "00018576" "55" "380" "0" "380" "0" "c.380T>A" "r.(?)" "p.(Ile127Asn)" "4" "" "missense" "" "" "0000116551" "00018576" "57" "380" "0" "380" "0" "c.380T>G" "r.(?)" "p.(Ile127Ser)" "4" "0.00" "missense" "0.979" "141.80" "0000116552" "00018576" "55" "392" "0" "392" "0" "c.392C>G" "r.(?)" "p.(Pro131Arg)" "4" "0.00" "missense" "0.875" "102.71" "0000116553" "00018576" "59" "392" "0" "392" "0" "c.392del" "r.(?)" "p.(Pro131Hisfs*5)" "4" "" "frameshift" "" "" "0000116554" "00018576" "59" "392" "0" "392" "0" "c.392del" "r.(?)" "p.(Pro131Hisfs*5)" "4" "" "frameshift" "" "" "0000116555" "00018576" "55" "395" "0" "395" "0" "c.395A>C" "r.(?)" "p.(His132Pro)" "4" "" "" "" "" "0000116556" "00018576" "53" "402" "0" "402" "0" "c.402T>C" "r.(=)" "p.(=)" "4" "" "" "" "" "0000116557" "00018576" "99" "406" "0" "406" "0" "c.406del" "r.(?)" "p.(Ile136*)" "4" "" "nonsense" "" "" "0000116558" "00018576" "77" "412" "0" "412" "0" "c.412G>A" "r.(?)" "p.(Asp138Asn)" "4" "" "" "" "" "0000116559" "00018576" "75" "414" "0" "414" "0" "c.414T>A" "r.(?)" "p.(Asp138Glu)" "4" "0.00" "missense" "0.894" "44.60" "0000116560" "00018576" "77" "418" "0" "418" "0" "c.418G>T" "r.(?)" "p.(Val140Phe)" "4" "0.00" "missense" "0.857" "49.94" "0000116561" "00018576" "79" "418" "0" "418" "0" "c.418G>T" "r.(?)" "p.(Val140Phe)" "4" "" "" "" "" "0000116562" "00018576" "53" "423" "35" "423" "36" "c.423+35_423+36insCTTCTT" "r.(=)" "p.(=)" "4i" "" "" "" "" "0000116563" "00018576" "59" "423" "1" "423" "1" "c.423+1G>A" "r.spl?" "p.(?)" "4i" "" "splicing affected" "" "" "0000116564" "00018576" "59" "423" "1" "423" "1" "c.423+1G>A" "r.spl?" "p.(?)" "4i" "" "splicing affected" "" "" "0000116565" "00018576" "99" "423" "1" "423" "1" "c.423+1G>A" "r.spl?" "p.(?)" "4i" "" "" "" "" "0000116566" "00018576" "99" "423" "1" "423" "1" "c.423+1G>C" "r.spl?" "p.(?)" "4i" "" "splicing affected" "" "" "0000116567" "00018576" "99" "423" "1" "423" "1" "c.423+1G>C" "r.spl?" "p.(?)" "4i" "" "splicing affected" "" "" "0000116568" "00018576" "33" "423" "20" "423" "20" "c.423+20T>A" "r.(=)" "p.(=)" "4i" "" "" "" "" "0000116569" "00018576" "53" "423" "20" "423" "20" "c.423+20T>A" "r.(=)" "p.(=)" "4i" "" "" "" "" "0000116570" "00018576" "33" "424" "-19" "424" "-14" "c.424-19_424-14dup" "r.(=)" "p.(=)" "4i" "" "" "" "" "0000116571" "00018576" "13" "424" "-18" "424" "-14" "c.424-18_424-14del" "r.(=)" "p.(=)" "4i" "" "" "" "" "0000116572" "00018576" "57" "424" "-6" "427" "0" "c.424-6_427del" "r.spl?" "p.?" "4i_5" "" "" "" "" "0000116573" "00018576" "57" "424" "-7" "424" "-7" "c.424-7A>C" "r.(=)" "p.(=)" "4i" "" "" "" "" "0000116574" "00018576" "57" "424" "-3" "424" "-3" "c.424-3C>G" "r.spl?" "p.(?)" "4i" "" "splicing affected" "" "" "0000116575" "00018576" "55" "424" "-2" "424" "-2" "c.424-2del" "r.spl?" "p.(=)" "4i" "" "" "" "" "0000116576" "00018576" "77" "424" "-1" "424" "-1" "c.424-1G>A" "r.spl?" "p.(=)" "4i" "" "splicing affected?" "" "" "0000116577" "00018576" "57" "424" "-1" "540" "1" "c.(423+1_424-1)_(540+1_541-1)del" "r.spl?" "p.?" "4i_5i" "0.03" "deletion, large" "" "" "0000116578" "00018576" "53" "438" "0" "438" "0" "c.438C>G" "r.(?)" "p.(Phe146Leu)" "5" "0.01" "missense" "0.955" "21.82" "0000116579" "00018576" "59" "470" "0" "470" "0" "c.470del" "r.(?)" "p.(Leu157*)" "5" "" "nonsense" "" "" "0000116580" "00018576" "57" "470" "0" "470" "0" "c.470T>G" "r.(?)" "p.(Leu157Trp)" "5" "0.00" "missense" "" "" "0000116581" "00018576" "53" "487" "0" "487" "0" "c.487T>C" "r.(?)" "p.(Ser163Pro)" "5" "1.00" "missense" "0.439" "73.35" "0000116582" "00018576" "51" "487" "0" "487" "0" "c.487T>C" "r.(?)" "p.(Ser163Pro)" "5" "1.00" "" "" "" "0000116583" "00018576" "57" "493" "0" "493" "0" "c.493del" "r.(?)" "p.(Glu165Lysfs*10)" "5" "" "frameshift" "" "" "0000116584" "00018576" "99" "502" "0" "502" "0" "c.502C>T" "r.(?)" "p.(Gln168*)" "5" "" "nonsense" "" "" "0000116585" "00018576" "79" "502" "0" "502" "0" "c.502dup" "r.(?)" "p.(Gln168Profs*11)" "5" "" "frameshift" "" "" "0000116586" "00018576" "99" "523" "0" "523" "0" "c.523G>T" "r.(?)" "p.(Glu175*)" "5" "" "nonsense" "" "" "0000116587" "00018576" "99" "526" "0" "526" "0" "c.526G>T" "r.(?)" "p.(Glu176*)" "5" "" "nonsense" "" "" "0000116588" "00018576" "53" "540" "0" "540" "0" "c.540G>A" "r.(=)" "p.(=)" "5" "" "silent" "" "" "0000116589" "00018576" "57" "540" "2" "540" "2" "c.540+2T>C" "r.spl?" "p.(=)" "5i" "" "splicing affected?" "" "" "0000116590" "00018576" "55" "541" "-3" "541" "-3" "c.541-3C>G" "r.spl?" "p.(=)" "5i" "" "splicing affected?" "" "" "0000116591" "00018576" "57" "541" "-2" "541" "-2" "c.541-2A>C" "r.spl?" "p.(=)" "5i" "" "splicing affected?" "" "" "0000116592" "00018576" "57" "541" "-2" "541" "-2" "c.541-2A>G" "r.spl?" "p.(=)" "5i" "" "splicing affected?" "" "" "0000116593" "00018576" "57" "546" "0" "546" "0" "c.546del" "r.(?)" "p.(Leu183Serfs*37)" "6" "" "frameshift" "" "" "0000116594" "00018576" "95" "550" "0" "552" "0" "c.550_552delinsATACAG" "r.(?)" "p.(Tyr184delinsIleGln)" "6" "" "delins" "" "" "0000116595" "00018576" "79" "557" "0" "557" "0" "c.557G>A" "r.(?)" "p.(Cys186Tyr)" "6" "0.00" "missense" "0.940" "193.72" "0000116596" "00018576" "57" "565" "0" "565" "0" "c.565T>C" "r.(?)" "p.(Cys189Arg)" "6" "0.00" "missense" "0.974" "179.53" "0000116597" "00018576" "57" "566" "0" "566" "0" "c.566G>T" "r.(?)" "p.(Cys189Phe)" "6" "0.00" "missense" "0.944" "204.39" "0000116598" "00018576" "77" "572" "0" "572" "0" "c.572G>A" "r.(?)" "p.(Cys191Tyr)" "6" "0.00" "missense" "0.955" "193.72" "0000116599" "00018576" "77" "574" "0" "574" "0" "c.574T>C" "r.(?)" "p.(Cys192Arg)" "6" "0.00" "missense" "0.979" "179.53" "0000116600" "00018576" "77" "574" "0" "574" "0" "c.574T>C" "r.(?)" "p.(Cys192Arg)" "6" "" "missense" "" "" "0000116601" "00018576" "57" "575" "0" "575" "0" "c.575G>A" "r.(?)" "p.(Cys192Tyr)" "6" "0.00" "missense" "179.53" "193.72" "0000116602" "00018576" "57" "575" "0" "575" "0" "c.575G>A" "r.(?)" "p.(Cys192Tyr)" "6" "" "missense" "" "" "0000116603" "00018576" "75" "577" "0" "588" "0" "c.577_588dup" "r.(?)" "p.(Ser193_Cys196dup)" "6" "" "duplication, small" "" "" "0000116604" "00018576" "55" "583" "0" "585" "0" "c.583_585del" "r.(?)" "p.(Ser195del)" "6" "" "" "" "" "0000116605" "00018576" "55" "583" "0" "585" "0" "c.583_585del" "r.(?)" "p.(Ser195del)" "6" "" "" "" "" "0000116606" "00018576" "97" "586" "0" "586" "0" "c.586T>C" "r.(?)" "p.(Cys196Arg)" "6" "0.00" "missense" "0.958" "179.53" "0000116607" "00018576" "97" "586" "0" "586" "0" "c.586T>G" "r.(?)" "p.(Cys196Gly)" "6" "0.00" "missense" "0.954" "158.23" "0000116608" "00018576" "79" "587" "0" "587" "0" "c.587G>A" "r.(?)" "p.(Cys196Tyr)" "6" "0.00" "missense" "0.943" "193.72" "0000116609" "00018576" "77" "587" "0" "587" "0" "c.587G>A" "r.(?)" "p.(Cys196Tyr)" "6" "" "missense" "" "" "0000116610" "00018576" "97" "588" "0" "588" "0" "c.588C>G" "r.(?)" "p.(Cys196Trp)" "6" "0.00" "missense" "0.879" "214.36" "0000116611" "00018576" "57" "589" "0" "589" "0" "c.589C>T" "r.(?)" "p.(Pro197Ser)" "6" "" "missense" "" "" "0000116612" "00018576" "57" "589" "0" "589" "0" "c.589C>T" "r.(?)" "p.(Pro197Ser)" "6" "" "missense" "" "" "0000116613" "00018576" "55" "590" "0" "590" "0" "c.590C>G" "r.(?)" "p.(Pro197Arg)" "6" "0.00" "missense" "0.991" "102.71" "0000116614" "00018576" "59" "591" "0" "591" "0" "c.591del" "r.(?)" "p.(Ser198Alafs*22)" "6" "" "frameshift" "" "" "0000116615" "00018576" "59" "591" "0" "591" "0" "c.591del" "r.(?)" "p.(Ser198Alafs*22)" "6" "" "frameshift" "" "" "0000116616" "00018576" "77" "594" "0" "594" "0" "c.594C>A" "r.(?)" "p.(Ser198Arg)" "6" "" "missense" "" "" "0000116617" "00018576" "99" "597" "0" "597" "0" "c.597C>G" "r.(?)" "p.(Tyr199*)" "6" "" "nonsense" "" "" "0000116618" "00018576" "57" "600" "0" "600" "0" "c.600G>T" "r.(?)" "p.(Trp200Cys)" "6" "0.00" "missense" "0.925" "214.36" "0000116619" "00018576" "99" "607" "0" "607" "0" "c.607G>T" "r.(?)" "p.(Gly203*)" "6" "" "nonsense" "" "" "0000116620" "00018576" "55" "617" "0" "617" "0" "c.617A>G" "r.(?)" "p.(Tyr206Cys)" "6" "0.00" "" "" "" "0000116621" "00018576" "99" "620" "0" "621" "0" "c.620_621del" "r.(?)" "p.(Leu207Argfs*14)" "6" "" "frameshift" "" "" "0000116622" "00018576" "99" "620" "0" "621" "0" "c.620_621del" "r.(?)" "p.(Leu207Argfs*14)" "6" "" "frameshift" "" "" "0000116623" "00018576" "77" "623" "0" "623" "0" "c.623G>A" "r.(?)" "p.(Gly208Glu)" "6" "" "missense" "" "" "0000116624" "00018576" "59" "640" "0" "640" "0" "c.640C>T" "r.(?)" "p.(Gln214*)" "6" "" "nonsense" "" "" "0000116625" "00018576" "77" "643" "-1" "1002" "0" "c.(642+1_643-1)_(*159_?)del" "r.spl?" "p.?" "6i_8" "" "deletion, large" "" "" "0000116626" "00018576" "55" "642" "0" "642" "0" "c.642G>C" "r.(?)" "p.(Gln214His)" "6" "0.16" "missense" "0.891" "24.08" "0000116627" "00018576" "77" "642" "1" "642" "1" "c.642+1G>A" "r.spl?" "p.(=)" "6i" "" "" "" "" "0000116628" "00018576" "53" "642" "17" "642" "17" "c.642+17T>C" "r.(=)" "p.(=)" "6i" "" "" "" "" "0000116629" "00018576" "77" "643" "-1" "1002" "0" "c.(642+1_643-1)_(*159_?)del" "r.spl?" "p.?" "6i_8" "" "deletion, large" "" "" "0000116630" "00018576" "77" "643" "-2" "643" "-2" "c.643-2A>C" "r.spl?" "p.(=)" "6i" "" "splicing affected?" "" "" "0000116631" "00018576" "55" "643" "0" "643" "0" "c.643G>A" "r.(?)" "p.(Ala215Thr)" "7" "0.00" "missense" "0.963" "58.02" "0000116632" "00018576" "57" "645" "0" "645" "0" "c.645del" "r.(?)" "p.(Tyr216Ilefs*4)" "7" "" "frameshift" "" "" "0000116633" "00018576" "77" "649" "0" "649" "0" "c.649C>T" "r.(?)" "p.(Arg217Cys)" "7" "0.00" "missense" "0.988" "179.53" "0000116634" "00018576" "77" "649" "0" "649" "0" "c.649C>T" "r.(?)" "p.(Arg217Cys)" "7" "" "missense" "" "" "0000116635" "00018576" "97" "650" "0" "650" "0" "c.650G>T" "r.(?)" "p.(Arg217Leu)" "7" "0.00" "missense" "0.960" "101.88" "0000116636" "00018576" "59" "653" "0" "653" "0" "c.653G>A" "r.(?)" "p.(Trp218*)" "7" "" "nonsense" "" "" "0000116637" "00018576" "77" "653" "0" "653" "0" "c.653G>C" "r.(?)" "p.(Trp218Ser)" "7" "0.00" "missense" "0.935" "176.58" "0000116638" "00018576" "77" "654" "0" "654" "0" "c.654G>A" "r.(?)" "p.(Trp218*)" "7" "" "nonsense" "" "" "0000116639" "00018576" "59" "660" "0" "660" "0" "c.660dup" "r.(?)" "p.(Asp221*)" "7" "" "nonsense" "" "" "0000116640" "00018576" "59" "661" "0" "661" "0" "c.661del" "r.(?)" "p.(Asp221Thrfs*27)" "7" "" "frameshift" "" "" "0000116641" "00018576" "59" "683" "0" "684" "0" "c.683_684del" "r.(?)" "p.(Glu228Glyfs*27)" "7" "" "frameshift" "" "" "0000116642" "00018576" "77" "685" "0" "686" "0" "c.685_686ins13?" "r.(?)" "p.?" "7" "" "frameshift" "" "" "0000116643" "00018576" "59" "687" "0" "687" "0" "c.687dup" "r.(?)" "p.(Arg230Alafs*26)" "7" "0.01" "frameshift" "" "" "0000116644" "00018576" "57" "688" "0" "688" "0" "c.688C>G" "r.(?)" "p.(Arg230Gly)" "7" "0.00" "" "0.963" "125.13" "0000116645" "00018576" "77" "688" "0" "688" "0" "c.688C>T" "r.(?)" "p.(Arg230Cys)" "7" "0.00" "missense" "0.967" "179.53" "0000116646" "00018576" "07" "688" "0" "688" "0" "c.688C>T" "r.(?)" "p.(Arg230Cys)" "7" "" "missense" "" "" "0000116647" "00018576" "57" "689" "0" "689" "0" "c.689G>A" "r.(?)" "p.(Arg230His)" "7" "0.00" "missense" "0.940" "28.82" "0000116648" "00018576" "57" "689" "0" "689" "0" "c.689G>A" "r.(?)" "p.(Arg230His)" "7" "" "" "" "" "0000116649" "00018576" "57" "689" "0" "689" "0" "c.689G>T" "r.(?)" "p.(Arg230Leu)" "7" "0.00" "missense" "0.971" "101.88" "0000116650" "00018576" "97" "689" "0" "689" "0" "c.689G>T" "r.(?)" "p.(Arg230Leu)" "7" "" "missense" "" "" "0000116651" "00018576" "99" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Gln235*)" "7" "" "" "" "" "0000116652" "00018576" "95" "709" "0" "709" "0" "c.709C>T" "r.(?)" "p.(Pro237Ser)" "7" "0.30" "missense" "0.501" "73.35" "0000116653" "00018576" "59" "713" "0" "713" "0" "c.713del" "r.(?)" "p.(Phe238Serfs*10)" "7" "" "frameshift" "" "" "0000116654" "00018576" "59" "713" "0" "713" "0" "c.713del" "r.(?)" "p.(Phe238Serfs*10)" "7" "" "frameshift" "" "" "0000116655" "00018576" "59" "716" "0" "719" "0" "c.716_719del" "r.(?)" "p.(Ser239Tyrfs*8)" "7" "" "frameshift" "" "" "0000116656" "00018576" "55" "716" "0" "716" "0" "c.716C>T" "r.(?)" "p.(Ser239Phe)" "7" "0.01" "missense" "0.933" "154.81" "0000116657" "00018576" "59" "717" "0" "717" "0" "c.717del" "r.(?)" "p.(Leu240Tyrfs*8)" "7" "" "frameshift" "" "" "0000116658" "00018576" "99" "718" "0" "719" "0" "c.718_719del" "r.(?)" "p.(Leu240Ilefs*15)" "7" "" "" "" "" "0000116659" "00018576" "77" "718" "0" "719" "0" "c.718_719del" "r.(?)" "p.(Leu240Ilefs*15)" "7" "" "frameshift" "" "" "0000116660" "00018576" "57" "718" "0" "721" "0" "c.718_721del" "r.(?)" "p.(Leu240Thrfs*7)" "7" "" "frameshift" "" "" "0000116661" "00018576" "57" "718" "0" "721" "0" "c.718_721del" "r.(?)" "p.(Leu240Thrfs*7)" "7" "" "frameshift" "" "" "0000116662" "00018576" "77" "724" "0" "724" "0" "c.724C>A" "r.(?)" "p.(Arg242Ser)" "7" "0.00" "missense" "" "" "0000116663" "00018576" "57" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Arg242Cys)" "7" "0.00" "missense" "0.984" "179.53" "0000116664" "00018576" "57" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Arg242Cys)" "7" "" "missense" "" "" "0000116665" "00018576" "57" "725" "0" "725" "0" "c.725G>A" "r.(?)" "p.(Arg242His)" "7" "0.00" "missense" "0.944" "28.82" "0000116666" "00018576" "97" "725" "0" "725" "0" "c.725G>A" "r.(?)" "p.(Arg242His)" "7" "" "" "" "" "0000116667" "00018576" "59" "725" "0" "725" "0" "c.725G>A" "r.(?)" "p.(Arg242His)" "7" "" "missense" "" "" "0000116668" "00018576" "95" "725" "0" "725" "0" "c.725G>A" "r.(?)" "p.(Arg242His)" "7" "" "" "" "" "0000116669" "00018576" "77" "727" "0" "727" "0" "c.727T>A" "r.(?)" "p.(Cys243Ser)" "7" "0.00" "missense" "0.950" "111.67" "0000116670" "00018576" "77" "727" "0" "727" "0" "c.727T>A" "r.(?)" "p.(Cys243Ser)" "7" "" "" "" "" "0000116671" "00018576" "97" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Cys243Tyr)" "7" "0.00" "missense" "0.949" "193.72" "0000116672" "00018576" "95" "736" "0" "736" "0" "c.736A>T" "r.(?)" "p.(Ile246Phe)" "7" "0.00" "missense" "0.953" "21.28" "0000116673" "00018576" "57" "744" "0" "744" "0" "c.744C>G" "r.(?)" "p.(Asn248Lys)" "7" "0.00" "missense" "0.866" "93.88" "0000116674" "00018576" "57" "745" "0" "745" "0" "c.745T>G" "r.(?)" "p.(Cys249Gly)" "7" "0.00" "missense" "0.962" "158.23" "0000116675" "00018576" "57" "746" "0" "746" "0" "c.746G>A" "r.(?)" "p.(Cys249Tyr)" "7" "" "" "" "" "0000116676" "00018576" "77" "747" "0" "747" "0" "c.747C>A" "r.(?)" "p.(Cys249*)" "7" "" "nonsense" "" "" "0000116677" "00018576" "97" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Cys253Valfs*5)" "7" "" "" "" "" "0000116678" "00018576" "79" "758" "0" "758" "0" "c.758G>A" "r.(?)" "p.(Cys253Tyr)" "7" "0.00" "missense" "0.955" "193.72" "0000116679" "00018576" "79" "758" "0" "758" "0" "c.758G>A" "r.(?)" "p.(Cys253Tyr)" "7" "" "missense" "" "" "0000116680" "00018576" "57" "761" "0" "761" "0" "c.761C>T" "r.(?)" "p.(Pro254Leu)" "7" "0.00" "" "0.981" "97.78" "0000116681" "00018576" "57" "761" "0" "761" "0" "c.761C>T" "r.(?)" "p.(Pro254Leu)" "7" "" "" "" "" "0000116682" "00018576" "77" "761" "0" "761" "0" "c.761dup" "r.(?)" "p.(Lys255*)" "7" "" "nonsense" "" "" "0000116683" "00018576" "57" "763" "0" "763" "0" "c.763A>G" "r.(?)" "p.(Lys255Glu)" "7" "0.00" "missense" "0.956" "56.87" "0000116684" "00018576" "53" "765" "29" "765" "29" "c.765+29G>A" "r.(=)" "p.(=)" "7i" "" "" "" "" "0000116685" "00018576" "77" "765" "1" "765" "1" "c.765+1G>A" "r.spl?" "p.(=)" "7i" "" "splicing affected?" "" "" "0000116686" "00018576" "95" "778" "0" "778" "0" "c.778G>C" "r.(?)" "p.(Gly260Arg)" "8" "0.00" "missense" "0.951" "125.13" "0000116687" "00018576" "97" "780" "0" "780" "0" "c.780del" "r.(?)" "p.(Ala262Leufs*8)" "8" "" "frameshift" "" "" "0000116688" "00018576" "77" "780" "0" "780" "0" "c.780del" "r.(?)" "p.(Ala262Leufs*8)" "8" "" "frameshift" "" "" "0000116689" "00018576" "55" "873" "0" "873" "0" "c.*30C>T" "r.(=)" "p.(=)" "8" "" "" "" "" "0000116885" "00018576" "77" "203" "0" "203" "0" "c.203G>A" "r.(?)" "p.(Cys68Tyr)" "3" "" "missense" "" "" "0000128239" "00018576" "77" "8" "0" "59" "0" "c.8_59del" "r.(?)" "p.(Ala3Glufs*57)" "1" "" "frameshift" "" "" "0000128240" "00018576" "77" "-151" "0" "765" "1" "c.(?_-151)_(765+1_766-1)del" "r.?" "p.?" "1_7i" "" "deletion, large" "" "" "0000128241" "00018576" "50" "17" "0" "42" "0" "c.17_42dup" "r.(?)" "p.(Ala15Profs*4)" "1" "" "frameshift" "" "" "0000128242" "00018576" "77" "70" "0" "70" "0" "c.70C>T" "r.(?)" "p.(Gln24*)" "1" "" "nonsense" "" "" "0000128243" "00018576" "77" "-2651" "0" "72" "1" "c.-2651_(72+1_73-1)del" "r.?" "p.(0?)" "1" "" "deletion, large" "" "" "0000128244" "00018576" "77" "-2651" "0" "72" "1" "c.-2651_(72+1_73-1)dup" "r.?" "p.(?)" "1" "" "duplication, large" "" "" "0000128245" "00018576" "90" "-151" "0" "200" "1" "c.(?_-151)_(200+1_201-1)del" "r.?" "p.?" "1_2i" "" "" "" "" "0000128246" "00018576" "99" "143" "0" "143" "0" "c.143A>T" "r.(?)" "p.(Asp48Val)" "2" "0.00" "missense" "101.88" "152.01" "0000128247" "00018576" "77" "86" "0" "92" "0" "c.86_92delinsGG" "r.(?)" "p.(Ala29Glyfs*32)" "2" "" "frameshift" "" "" "0000128248" "00018576" "50" "158" "0" "158" "0" "c.158G>A" "r.(?)" "p.(Gly53Glu)" "2" "" "" "" "" "0000128249" "00018576" "90" "73" "-1" "200" "1" "c.(72+1_73-1)_(200+1_201-1)del" "r.(?)" "p.(Ala25Metfs*13)" "1i_2i" "" "" "" "" "0000128250" "00018576" "50" "201" "-2" "201" "-2" "c.201-2A>C" "r.spl?" "p.(=)" "2i" "" "" "" "" "0000128251" "00018576" "57" "154" "0" "154" "0" "c.154del" "r.(?)" "p.(Ala52Leufs*25)" "2" "" "frameshift" "" "" "0000128252" "00018576" "90" "73" "-1" "765" "1" "c.(72+1_73-1)_(765+1_766-1)del" "r.(?)" "p.(Ala25_Lys255del)" "1i_7i" "" "deletion, large" "" "" "0000128253" "00018576" "50" "80" "0" "80" "0" "c.80G>A" "r.(?)" "p.(Arg27Gln)" "2" "0.54" "missense" "0.558" "85.11" "0000128254" "00018576" "99" "274" "0" "274" "0" "c.274T>C" "r.(?)" "p.(Ser92Pro)" "3" "0.00" "missense" "0.969" "73.35" "0000128255" "00018576" "57" "287" "-6" "287" "-3" "c.287-6_287-3del" "r.spl?" "p.(=)" "3i" "" "splicing affected?" "" "" "0000128256" "00018576" "77" "201" "-1" "1002" "0" "c.(200+1_201-1)_(*159_?)del" "r.?" "p.?" "2i_8" "" "deletion, large" "" "" "0000128257" "00018576" "79" "201" "-1" "286" "1" "c.(200+1_201-1)_(286+1_287-1)del" "r.(?)" "p.(Cys68Hisfs*22)" "2i_3i" "" "frameshift" "" "" "0000128258" "00018576" "55" "274" "0" "274" "0" "c.274T>A" "r.(?)" "p.(Ser92Thr)" "3" "0.00" "missense" "0.955" "57.75" "0000128259" "00018576" "50" "201" "-1339" "239" "0" "c.201-1339_239delinsN[?]" "r.(?)" "p.?" "2i_3" "" "delins" "" "" "0000128260" "00018576" "77" "320" "0" "320" "0" "c.320G>A" "r.(?)" "p.(Gly107Glu)" "4" "0.00" "missense" "0.896" "97.85" "0000128261" "00018576" "77" "332" "0" "332" "0" "c.332T>G" "r.(?)" "p.(Leu111Arg)" "4" "0.00" "missense" "0.910" "193.72" "0000128262" "00018576" "57" "441" "0" "441" "0" "c.441del" "r.(?)" "p.(Tyr147*)" "5" "" "nonsense" "" "" "0000128263" "00018576" "50" "301" "0" "301" "0" "c.301del" "r.(?)" "p.(Cys101Valfs*3)" "4" "" "frameshift" "" "" "0000128264" "00018576" "77" "464" "0" "464" "0" "c.464C>T" "r.(?)" "p.(Pro155Leu)" "5" "0.00" "missense" "" "" "0000128265" "00018576" "77" "505" "0" "505" "0" "c.505C>T" "r.(?)" "p.(Gln169*)" "5" "" "nonsense" "" "" "0000128266" "00018576" "77" "435" "0" "435" "0" "c.435del" "r.(?)" "p.(Phe146Serfs*12)" "5" "" "frameshift" "" "" "0000128267" "00018576" "50" "472" "0" "472" "0" "c.472A>T" "r.(?)" "p.(Lys158*)" "5" "" "nonsense" "" "" "0000128268" "00018576" "55" "530" "0" "530" "0" "c.530G>A" "r.(?)" "p.(Arg177His)" "5" "0.00" "missense" "0.799" "28.82" "0000128269" "00018576" "50" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Pro209Leu)" "6" "0.00" "missense" "" "" "0000128270" "00018576" "57" "598" "0" "598" "0" "c.598T>A" "r.(?)" "p.(Trp200Arg)" "6" "0.00" "missense" "0.990" "101.29" "0000128271" "00018576" "50" "641" "0" "641" "0" "c.641A>G" "r.(?)" "p.(Gln214Arg)" "6" "0.00" "missense" "0.973" "42.81" "0000128272" "00018576" "57" "541" "-1" "765" "1" "c.(540+1_541-1)_(765+1_766-1)del" "r.(?)" "p.(Asp181_Lys255del)" "5i_7i" "" "deletion, large" "" "" "0000128273" "00018576" "50" "642" "4" "642" "4" "c.642+4A>G" "r.spl?" "p.(=)" "6i" "" "splicing affected?" "" "" "0000128274" "00018576" "77" "553" "0" "553" "0" "c.553G>T" "r.(?)" "p.(Glu185*)" "6" "" "nonsense" "" "" "0000128275" "00018576" "50" "541" "-1" "1002" "0" "c.(540+1_541-1)_(*159_?)del" "r.?" "p.?" "5i_8" "" "deletion, large" "" "" "0000128276" "00018576" "50" "670" "0" "670" "0" "c.670G>C" "r.(?)" "p.(Asp224His)" "7" "0.00" "missense" "" "" "0000128277" "00018576" "77" "716" "0" "716" "0" "c.716del" "r.(?)" "p.(Ser239Phefs*9)" "7" "" "frameshift" "" "" "0000128278" "00018576" "57" "745" "0" "748" "0" "c.745_748dup" "r.(?)" "p.(Thr250Metfs*7)" "7" "" "frameshift" "" "" "0000128279" "00018576" "50" "666" "0" "678" "0" "c.666_678del" "r.(?)" "p.(Arg223Glnfs*21)" "7" "" "frameshift" "" "" "0000128280" "00018576" "50" "670" "0" "670" "0" "c.670G>C" "r.(?)" "p.(Asp224His)" "7" "" "" "" "" "0000128281" "00018576" "50" "716" "0" "716" "0" "c.716C>G" "r.(?)" "p.(Ser239Cys)" "7" "0.01" "missense" "0.944" "111.67" "0000128282" "00018576" "70" "770" "0" "770" "0" "c.770dup" "r.(?)" "p.(Asn258Glufs*17)" "8" "" "frameshift" "" "" "0000128337" "00018576" "77" "603" "0" "603" "0" "c.603G>A" "r.(?)" "p.(Trp201*)" "6" "" "nonsense" "" "" "0000129947" "00018576" "77" "566" "0" "566" "0" "c.566G>T" "r.(?)" "p.(Cys189Phe)" "6" "" "" "" "" "0000140515" "00018576" "55" "688" "0" "688" "0" "c.688C>G" "r.(?)" "p.(Arg230Gly)" "7" "" "missense" "" "" "0000147196" "00018576" "90" "143" "0" "143" "0" "c.143A>T" "r.(?)" "p.(Asp48Val)" "" "" "" "" "" "0000148451" "00018576" "77" "-54121" "0" "73" "-4014" "c.-54121_73-4014del" "r.0?" "p.(0?)" "1" "" "deletion, large" "" "" "0000148452" "00018576" "77" "-516" "0" "72" "333" "c.-516_72+333del" "r.?" "p.(?)" "1" "" "deletion, large" "" "" "0000148453" "00018576" "77" "-8570" "0" "201" "-1396" "c.-8570_201-1396del" "r.(=)" "p.(=)" "1" "" "deletion, small" "" "" "0000150745" "00018576" "00" "380" "0" "380" "0" "c.380T>G" "r.(?)" "p.(Ile127Ser)" "4" "" "" "" "" "0000158311" "00018576" "77" "-151" "0" "72" "1" "c.(?_-151)_(72+1_73-1)del" "r.spl?" "p.?" "1" "" "deletion, large" "" "" "0000163202" "00018576" "33" "1002" "0" "1027" "0" "c.*159_*184delinsN[25]" "r.(=)" "p.(=)" "8" "" "" "" "" "0000239981" "00018576" "97" "166" "0" "170" "0" "c.166_170del" "r.(?)" "p.(Pro56Tyrfs*5)" "2" "" "" "" "" "0000248069" "00018576" "30" "300" "0" "300" "0" "c.300T>C" "r.(?)" "p.(Ser100=)" "" "" "" "" "" "0000249769" "00018576" "57" "635" "0" "635" "0" "c.635T>A" "r.(?)" "p.(Leu212His)" "" "0.00" "missense" "0.971" "98.69" "0000249944" "00018576" "30" "300" "0" "300" "0" "c.300T>C" "r.(?)" "p.(Ser100=)" "" "" "" "" "" "0000250027" "00018576" "30" "423" "20" "423" "20" "c.423+20T>A" "r.(=)" "p.(=)" "" "" "" "" "" "0000250169" "00018576" "10" "487" "0" "487" "0" "c.487T>C" "r.(?)" "p.(Ser163Pro)" "" "1.00" "" "" "" "0000250740" "00018576" "10" "300" "0" "300" "0" "c.300T>C" "r.(?)" "p.(Ser100=)" "" "" "" "" "" "0000251694" "00018576" "30" "423" "20" "423" "20" "c.423+20T>A" "r.(=)" "p.(=)" "" "" "" "" "" "0000253959" "00018576" "30" "300" "0" "300" "0" "c.300T>C" "r.(?)" "p.(Ser100=)" "" "" "" "" "" "0000295713" "00018576" "30" "424" "-16" "424" "-14" "c.424-16_424-14del" "r.(=)" "p.(=)" "" "" "" "" "" "0000298075" "00018576" "50" "158" "0" "158" "0" "c.158G>A" "r.(?)" "p.(Gly53Glu)" "" "" "" "" "" "0000298076" "00018576" "97" "649" "0" "649" "0" "c.649C>T" "r.(?)" "p.(Arg217Cys)" "" "" "" "" "" "0000299382" "00018576" "10" "21" "0" "21" "0" "c.21C>T" "r.(?)" "p.(Leu7=)" "" "" "" "" "" "0000299383" "00018576" "10" "24" "0" "24" "0" "c.24C>T" "r.(?)" "p.(Ser8=)" "" "" "" "" "" "0000299384" "00018576" "90" "423" "1" "423" "1" "c.423+1G>A" "r.spl?" "p.?" "" "" "splicing affected" "" "" "0000299385" "00018576" "30" "424" "-16" "424" "-14" "c.424-16_424-14del" "r.(=)" "p.(=)" "" "" "" "" "" "0000299386" "00018576" "30" "424" "-19" "424" "-14" "c.424-19_424-14del" "r.(=)" "p.(=)" "" "" "" "" "" "0000299387" "00018576" "30" "543" "0" "543" "0" "c.543C>T" "r.(?)" "p.(Asp181=)" "" "" "silent" "" "" "0000302005" "00018576" "10" "-139" "0" "-139" "0" "c.-139G>T" "r.(?)" "p.(=)" "" "" "" "" "" "0000302006" "00018576" "30" "-33" "0" "-33" "0" "c.-33G>T" "r.(?)" "p.(=)" "" "" "" "" "" "0000302007" "00018576" "10" "873" "0" "873" "0" "c.*30C>T" "r.(=)" "p.(=)" "" "" "" "" "" "0000302008" "00018576" "90" "200" "1" "200" "1" "c.200+1G>A" "r.spl?" "p.?" "" "" "" "" "" "0000302009" "00018576" "10" "21" "0" "21" "0" "c.21C>T" "r.(?)" "p.(Leu7=)" "" "" "" "" "" "0000302010" "00018576" "59" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Arg90Ter)" "" "" "nonsense" "" "" "0000302011" "00018576" "90" "343" "0" "343" "0" "c.343C>T" "r.(?)" "p.(Arg115Ter)" "" "" "" "" "" "0000302012" "00018576" "90" "423" "1" "423" "1" "c.423+1G>A" "r.spl?" "p.?" "" "" "splicing affected" "" "" "0000302013" "00018576" "97" "490" "0" "490" "0" "c.490C>T" "r.(?)" "p.(Gln164Ter)" "" "" "nonsense" "" "" "0000302014" "00018576" "75" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Pro209Leu)" "" "" "missense" "" "" "0000302015" "00018576" "90" "653" "0" "653" "0" "c.653G>C" "r.(?)" "p.(Trp218Ser)" "" "" "" "" "" "0000302016" "00018576" "90" "654" "0" "654" "0" "c.654G>A" "r.(?)" "p.(Trp218Ter)" "" "" "nonsense" "" "" "0000307858" "00018576" "30" "24" "0" "24" "0" "c.24C>T" "r.(?)" "p.(Ser8=)" "" "" "" "" "" "0000336835" "00018576" "90" "423" "1" "423" "1" "c.423+1G>A" "r.spl?" "p.?" "" "" "splicing affected" "" "" "0000337348" "00018576" "30" "765" "13" "765" "13" "c.765+13G>A" "r.(=)" "p.(=)" "" "" "" "" "" "0000337349" "00018576" "30" "423" "20" "423" "20" "c.423+20T>A" "r.(=)" "p.(=)" "" "" "" "" "" "0000337350" "00018576" "90" "200" "1" "200" "1" "c.200+1G>A" "r.spl?" "p.?" "" "" "" "" "" "0000339540" "00018576" "10" "300" "0" "300" "0" "c.300T>C" "r.(?)" "p.(Ser100=)" "" "" "" "" "" "0000339541" "00018576" "10" "24" "0" "24" "0" "c.24C>T" "r.(?)" "p.(Ser8=)" "" "" "" "" "" "0000339542" "00018576" "10" "18" "0" "18" "0" "c.18C>A" "r.(?)" "p.(Ala6=)" "" "" "" "" "" "0000342264" "00018576" "97" "649" "0" "649" "0" "c.649C>T" "r.(?)" "p.(Arg217Cys)" "" "" "missense" "" "" "0000342384" "00018576" "90" "725" "0" "725" "0" "c.725G>A" "r.(?)" "p.(Arg242His)" "" "" "" "" "" "0000343907" "00018576" "97" "412" "0" "412" "0" "c.412G>A" "r.(?)" "p.(Asp138Asn)" "" "" "" "" "" "0000344296" "00018576" "97" "574" "0" "574" "0" "c.574T>C" "r.(?)" "p.(Cys192Arg)" "" "" "missense" "" "" "0000344328" "00018576" "90" "727" "0" "727" "0" "c.727T>A" "r.(?)" "p.(Cys243Ser)" "" "" "" "" "" "0000346831" "00018576" "55" "289" "0" "289" "0" "c.289A>T" "r.(?)" "p.(Ile97Phe)" "" "0.00" "missense" "0.873" "21.28" "0000348761" "00018576" "10" "487" "0" "487" "0" "c.487T>C" "r.(?)" "p.(Ser163Pro)" "" "" "" "" "" "0000349732" "00018576" "90" "653" "0" "653" "0" "c.653G>C" "r.(?)" "p.(Trp218Ser)" "" "" "" "" "" "0000350976" "00018576" "90" "343" "0" "343" "0" "c.343C>T" "r.(?)" "p.(Arg115Ter)" "" "" "" "" "" "0000438839" "00018576" "75" "761" "0" "761" "0" "c.761C>T" "r.(?)" "p.(Pro254Leu)" "" "0.00" "" "" "" "0000500507" "00018576" "97" "445" "0" "445" "0" "c.445C>T" "r.(?)" "p.(Gln149*)" "" "" "nonsense" "" "" "0000504283" "00018576" "70" "766" "-2" "766" "-2" "c.766-2A>G" "r.spl?" "p.?" "" "" "splicing affected?" "" "" "0000504284" "00018576" "30" "642" "17" "642" "17" "c.642+17T>C" "r.(=)" "p.(=)" "" "" "" "" "" "0000504285" "00018576" "90" "588" "0" "588" "0" "c.588C>A" "r.(?)" "p.(Cys196Ter)" "" "" "nonsense" "" "" "0000504286" "00018576" "97" "490" "0" "490" "0" "c.490C>T" "r.(?)" "p.(Gln164Ter)" "" "" "nonsense" "" "" "0000504287" "00018576" "10" "487" "0" "487" "0" "c.487T>C" "r.(?)" "p.(Ser163Pro)" "" "" "" "" "" "0000504289" "00018576" "30" "342" "0" "342" "0" "c.342C>T" "r.(?)" "p.(Thr114=)" "" "" "silent" "" "" "0000504290" "00018576" "30" "300" "0" "300" "0" "c.300T>C" "r.(?)" "p.(Ser100=)" "" "" "" "" "" "0000504291" "00018576" "10" "200" "35" "200" "35" "c.200+35G>A" "r.(=)" "p.(=)" "" "" "" "" "" "0000504292" "00018576" "90" "143" "0" "143" "0" "c.143A>T" "r.(?)" "p.(Asp48Val)" "" "" "" "" "" "0000504303" "00018576" "30" "32" "0" "32" "0" "c.32G>A" "r.(?)" "p.(Arg11His)" "" "" "" "" "" "0000504304" "00018576" "30" "24" "0" "24" "0" "c.24C>T" "r.(?)" "p.(Ser8=)" "" "" "" "" "" "0000504305" "00018576" "10" "18" "0" "18" "0" "c.18C>A" "r.(?)" "p.(Ala6=)" "" "" "" "" "" "0000504306" "00018576" "10" "18" "0" "18" "0" "c.18C>A" "r.(?)" "p.(Ala6=)" "" "" "" "" "" "0000504307" "00018576" "10" "18" "0" "18" "0" "c.18C>A" "r.(?)" "p.(Ala6=)" "" "" "" "" "" "0000504308" "00018576" "10" "18" "0" "18" "0" "c.18C>A" "r.(?)" "p.(Ala6=)" "" "" "" "" "" "0000595662" "00018576" "79" "21" "0" "21" "0" "c.21del" "r.(?)" "p.(Ser8Profs*2)" "" "" "" "" "" "0000599136" "00018576" "97" "718" "0" "719" "0" "c.718_719del" "r.(?)" "p.(Leu240Ilefs*15)" "7" "" "frameshift" "" "" "0000599138" "00018576" "95" "194" "0" "194" "0" "c.194T>G" "r.(?)" "p.(Leu65Arg)" "2" "0.05" "missense" "0.924" "101.88" "0000599141" "00018576" "79" "274" "0" "274" "0" "c.274T>C" "r.(?)" "p.(Ser92Pro)" "3" "0.00" "missense" "" "" "0000599149" "00018576" "97" "343" "0" "343" "0" "c.343C>T" "r.(?)" "p.(Arg115*)" "4" "" "nonsense" "" "" "0000599154" "00018576" "97" "594" "0" "594" "0" "c.594C>A" "r.(?)" "p.(Ser198Arg)" "6" "0.00" "missense" "" "" "0000599155" "00018576" "97" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Gln235*)" "7" "" "nonsense" "" "" "0000599156" "00018576" "97" "649" "0" "649" "0" "c.649C>G" "r.(?)" "p.(Arg217Gly)" "7" "0.00" "missense" "" "" "0000599159" "00018576" "77" "293" "0" "293" "0" "c.293G>A" "r.(?)" "p.(Cys98Tyr)" "4" "0.00" "missense" "" "" "0000599166" "00018576" "97" "532" "0" "532" "0" "c.532G>T" "r.(?)" "p.(Glu178*)" "5" "" "nonsense" "" "" "0000604994" "00018576" "50" "158" "0" "158" "0" "c.158G>A" "r.(?)" "p.(Gly53Glu)" "" "" "" "" "" "0000620441" "00018576" "90" "79" "0" "79" "0" "c.79C>T" "r.(?)" "p.(Arg27Ter)" "" "" "nonsense" "" "" "0000647455" "00018576" "50" "487" "0" "487" "0" "c.487T>C" "r.(?)" "p.(Ser163Pro)" "" "" "missense" "" "" "0000647456" "00018576" "50" "423" "20" "423" "20" "c.423+20T>A" "r.(=)" "p.(=)" "" "" "" "" "" "0000653811" "00018576" "33" "709" "0" "709" "0" "c.709C>T" "r.(?)" "p.(Pro237Ser)" "" "0.30" "" "0.501" "73.35" "0000653812" "00018576" "10" "487" "0" "487" "0" "c.487T>C" "r.(?)" "p.(Ser163Pro)" "" "" "" "" "" "0000653813" "00018576" "77" "206" "0" "206" "0" "c.206G>T" "r.(?)" "p.(Gly69Val)" "" "" "missense" "" "" "0000659574" "00018576" "97" "286" "1" "286" "1" "c.286+1G>A" "r.(?)" "p.(?)" "" "" "" "" "" "0000668981" "00018576" "50" "487" "0" "487" "0" "c.487T>C" "r.(?)" "p.(Ser163Pro)" "" "" "missense" "" "" "0000668982" "00018576" "50" "423" "20" "423" "20" "c.423+20T>A" "r.(=)" "p.(=)" "" "" "" "" "" "0000675542" "00018576" "10" "424" "-19" "424" "-14" "c.424-19_424-14del" "r.(=)" "p.(=)" "" "" "" "" "" "0000682774" "00018576" "70" "603" "0" "603" "0" "c.603G>A" "r.(?)" "p.(Trp201*)" "" "" "nonsense" "" "" "0000716992" "00018576" "90" "653" "0" "653" "0" "c.653G>C" "r.(?)" "p.(Trp218Ser)" "" "0.00" "" "0.935" "176.58" "0000716993" "00018576" "79" "557" "0" "557" "0" "c.557G>A" "r.(?)" "p.(Cys186Tyr)" "" "" "missense" "" "" "0000716994" "00018576" "53" "541" "0" "541" "0" "c.541G>A" "r.(?)" "p.(Asp181Asn)" "" "0.05" "missense" "0.704" "23.01" "0000716995" "00018576" "57" "440" "0" "440" "0" "c.440A>G" "r.(?)" "p.(Tyr147Cys)" "" "0.00" "missense" "0.874" "193.72" "0000716996" "00018576" "30" "158" "0" "158" "0" "c.158G>A" "r.(?)" "p.(Gly53Glu)" "" "" "" "" "" "0000717001" "00018576" "30" "65" "0" "65" "0" "c.65G>C" "r.(?)" "p.(Cys22Ser)" "" "" "" "" "" "0000788245" "00018576" "99" "0" "0" "0" "0" "c.-151_(*159{0}" "r.0?" "p.0?" "_1_8_" "" "deletion, large" "" "" "0000788246" "00018576" "55" "0" "0" "0" "0" "c.-151_*159{2}" "r.?" "p.?" "_1_8_" "" "duplication, large" "" "" "0000788247" "00018576" "99" "0" "0" "0" "0" "c.-151_(765+1_766-1){0}" "r.0?" "p.0?" "_1_7i" "" "deletion, large" "" "" "0000788248" "00018576" "99" "0" "0" "0" "0" "c.-151_(200+1_201-1){0}" "r.0?" "p.0?" "_1_2i" "" "deletion, large" "" "" "0000788249" "00018576" "99" "0" "0" "0" "0" "c.-151_(72+1_73-1){0}" "r.0?" "p.0?" "_1_1i" "" "deletion, large" "" "" "0000788250" "00018576" "55" "-70" "0" "-70" "0" "c.-70C>T" "r.(?)" "p.(?)" "1" "" "" "" "" "0000788251" "00018576" "55" "-55" "0" "-55" "0" "c.-55C>T" "r.(?)" "p.(?)" "1" "" "" "" "" "0000788252" "00018576" "55" "-31" "0" "-31" "0" "c.-31T>G" "r.(?)" "p.(?)" "1" "" "" "" "" "0000788253" "00018576" "33" "-19" "0" "-19" "0" "c.-19del" "r.(?)" "p.(?)" "_1" "" "" "" "" "0000788254" "00018576" "77" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.(Met1?)" "1" "" "" "" "" "0000788255" "00018576" "77" "3" "0" "3" "0" "c.3G>C" "r.(?)" "p.(Met1?)" "1" "" "nonsense" "" "" "0000788256" "00018576" "77" "8" "0" "59" "0" "c.8_59del" "r.(?)" "p.(Ala3Glyfs*57)" "1" "" "frameshift" "" "" "0000788257" "00018576" "33" "14" "0" "14" "0" "c.14T>G" "r.(?)" "p.(Val5Gly)" "1" "0.40" "missense" "0.507" "108.79" "0000788258" "00018576" "99" "15" "0" "15" "0" "c.15dup" "r.(?)" "p.(Ala6Argfs*57)" "1" "" "frameshift" "" "" "0000788259" "00018576" "99" "17" "0" "35" "0" "c.17_35del" "r.(?)" "p.(Ala6Glyfs*65)" "1" "" "frameshift" "" "" "0000788260" "00018576" "99" "17" "0" "42" "0" "c.17_42dup" "r.(?)" "p.(Ala15Profs*4)" "1" "" "frameshift" "" "" "0000788261" "00018576" "33" "21" "0" "21" "0" "c.21C>T" "r.(=)" "p.(Leu7=)" "1" "" "silent" "" "" "0000788262" "00018576" "11" "24" "0" "24" "0" "c.24C>T" "r.(=)" "p.(Ser8=)" "1" "" "silent" "" "" "0000788263" "00018576" "33" "32" "0" "32" "0" "c.32G>A" "r.(?)" "p.(Arg11His)" "1" "" "missense" "" "" "0000788264" "00018576" "53" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Leu18Phe)" "1" "0.09" "missense" "0.278" "21.82" "0000788265" "00018576" "33" "65" "0" "65" "0" "c.65G>T" "r.(?)" "p.(Cys22Phe)" "1" "0.21" "missense" "0.486" "111.67" "0000788266" "00018576" "77" "70" "0" "70" "0" "c.70C>T" "r.(?)" "p.(Gln24*)" "1" "" "nonsense" "" "" "0000788267" "00018576" "77" "72" "1" "72" "1" "c.72+1G>A" "r.spl?" "p.(?)" "1i" "" "splicing affected" "" "" "0000788268" "00018576" "77" "72" "1" "72" "1" "c.72+1G>T" "r.spl?" "p.(?)" "1i" "" "splicing affected" "" "" "0000788269" "00018576" "99" "73" "-1" "200" "1" "c.(72+1_73-1)_(200+1_201-1)del" "r.(?)" "p.?" "2" "" "deletion, large" "" "" "0000788270" "00018576" "99" "0" "0" "0" "0" "c.(72+1_73-1)_*159{0}" "r.?" "p.0?" "1i_8_" "" "deletion, large" "" "" "0000788271" "00018576" "77" "72" "2" "72" "6" "c.72+2_72+6del" "r.(spl?)" "p.(?)" "1i" "" "splicing affected?" "" "" "0000788272" "00018576" "55" "73" "-65" "73" "-65" "c.73-65G>T" "r.(?)" "p.(?)" "1i" "" "" "" "" "0000788273" "00018576" "99" "73" "-22" "73" "-22" "c.73-22T>A" "r.spl?" "p.(?)" "1i" "" "splicing affected" "" "" "0000788274" "00018576" "99" "79" "0" "79" "0" "c.79C>T" "r.(?)" "p.(Arg27*)" "2" "" "nonsense" "" "" "0000788275" "00018576" "77" "86" "0" "92" "0" "c.86_92delinsGG" "r.(?)" "p.(Ala29Glyfs*32)" "2" "" "frameshift" "" "" "0000788276" "00018576" "99" "88" "0" "88" "0" "c.88del" "r.(?)" "p.(Gln30Argfs*47)" "2" "" "frameshift" "" "" "0000788277" "00018576" "77" "93" "0" "93" "0" "c.93dup" "r.(?)" "p.(Ala32Serfs*31)" "2" "" "frameshift" "" "" "0000788278" "00018576" "57" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Arg38Cys)" "2" "0.00" "missense" "0.873" "179.53" "0000788279" "00018576" "77" "118" "0" "118" "0" "c.118A>G" "r.(?)" "p.(Lys40Glu)" "2" "0.00" "missense" "" "" "0000788281" "00018576" "99" "136" "0" "136" "0" "c.136C>G" "r.(?)" "p.(Arg46Gly)" "2" "0.00" "missense" "0.932" "125.13" "0000788282" "00018576" "99" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "2" "" "nonsense" "" "" "0000788283" "00018576" "99" "137" "0" "137" "0" "c.137G>A" "r.(?)" "p.(Arg46Gln)" "2" "" "missense" "" "" "0000788284" "00018576" "99" "141" "0" "141" "0" "c.141G>A" "r.(?)" "p.(Trp47*)" "2" "" "nonsense" "" "" "0000788285" "00018576" "99" "154" "0" "154" "0" "c.154del" "r.(?)" "p.(Ala52Leufs*25)" "2" "" "frameshift" "" "" "0000788286" "00018576" "33" "158" "0" "158" "0" "c.158G>A" "r.(?)" "p.(Gly53Glu)" "2" "" "missense" "" "" "0000788287" "00018576" "99" "163" "0" "166" "0" "c.163_166del" "r.(?)" "p.(Lys55Leufs*21)" "2" "" "frameshift" "" "" "0000788288" "00018576" "99" "166" "0" "170" "0" "c.166_170del" "r.(?)" "p.(Pro56Tyrfs*5)" "2" "" "frameshift" "" "" "0000788289" "00018576" "77" "167" "0" "167" "0" "c.167C>T" "r.(?)" "p.(Pro56Leu)" "2" "0.00" "missense" "0.900" "97.78" "0000788290" "00018576" "99" "183" "0" "183" "0" "c.183T>G" "r.(?)" "p.(Tyr61*)" "2" "" "nonsense" "" "" "0000788291" "00018576" "99" "201" "-1" "286" "1" "c.(200+1_201-1)_(286+1_287-1)del" "r.(?)" "p.?" "2i_3i" "" "deletion, large" "" "" "0000788292" "00018576" "99" "201" "-1" "1002" "0" "c.(200+1_201-1)_(*159_?)del" "r.?" "p.0?" "2i_8_" "" "deletion, large" "" "" "0000788293" "00018576" "99" "200" "1" "200" "1" "c.200+1G>A" "r.spl?" "p.(?)" "2i" "" "splicing affected" "" "" "0000788294" "00018576" "77" "200" "2" "200" "2" "c.200+2T>A" "r.(spl?)" "p.(?)" "2i" "" "splicing affected?" "" "" "0000788295" "00018576" "55" "200" "7" "200" "7" "c.200+7A>G" "r.(=)" "p.(=)" "2i" "" "" "" "" "0000788296" "00018576" "55" "201" "-71" "201" "-71" "c.201-71C>T" "r.(?)" "p.(=)" "2i" "" "" "" "" "0000788297" "00018576" "55" "201" "-24" "201" "-24" "c.201-24C>G" "r.(?)" "p.(=)" "2i" "" "" "" "" "0000788298" "00018576" "99" "201" "-1" "201" "-1" "c.201-1G>A" "r.spl?" "p.(?)" "2i" "" "splicing affected" "" "" "0000788299" "00018576" "99" "203" "0" "203" "0" "c.203G>A" "r.(?)" "p.(Cys68Tyr)" "3" "" "missense" "" "" "0000788300" "00018576" "99" "206" "0" "206" "0" "c.206G>T" "r.(?)" "p.(Gly69Val)" "3" "" "missense" "" "" "0000788301" "00018576" "77" "221" "0" "221" "0" "c.221A>G" "r.(?)" "p.(Asp74Gly)" "3" "0.00" "missense" "0.949" "108.79" "0000788302" "00018576" "57" "238" "0" "238" "0" "c.238A>G" "r.(?)" "p.(Lys80Glu)" "3" "0.00" "missense" "0.972" "56.87" "0000788303" "00018576" "55" "250" "0" "250" "0" "c.250G>A" "r.(?)" "p.(Asp84Asn)" "3" "0.00" "missense" "0.799" "23.01" "0000788304" "00018576" "57" "250" "0" "250" "0" "c.250G>T" "r.(?)" "p.(Asp84Tyr)" "3" "0.00" "missense" "0.916" "159.94" "0000788305" "00018576" "99" "255" "0" "255" "0" "c.255del" "r.(?)" "p.(Thr86Leufs*2)" "3" "" "frameshift" "" "" "0000788306" "00018576" "77" "260" "0" "260" "0" "c.260T>C" "r.(?)" "p.(Leu87Ser)" "3" "" "missense" "" "" "0000788307" "00018576" "99" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Arg90*)" "3" "" "nonsense" "" "" "0000788308" "00018576" "55" "269" "0" "269" "0" "c.269G>A" "r.(?)" "p.(Arg90Gln)" "3" "0.00" "missense" "" "" "0000788309" "00018576" "99" "274" "0" "274" "0" "c.274T>C" "r.(?)" "p.(Ser92Pro)" "3" "" "missense" "" "" "0000788613" "00018576" "99" "277" "0" "277" "0" "c.277T>C" "r.(?)" "p.(Cys93Arg)" "3" "0.00" "missense" "0.863" "179.53" "0000788614" "00018576" "57" "278" "0" "278" "0" "c.278G>A" "r.(?)" "p.(Cys93Tyr)" "3" "0.00" "missense" "0.945" "193.72" "0000788615" "00018576" "99" "282" "0" "283" "0" "c.282_283insCTTA" "r.(?)" "p.(Glu95Leufs*25)" "3" "" "frameshift" "" "" "0000788616" "00018576" "77" "286" "0" "286" "0" "c.286G>A" "r.(?)" "p.(Gly96Ser)" "3" "" "missense" "" "" "0000788617" "00018576" "77" "286" "1" "286" "1" "c.286+1G>A" "r.spl?" "p.(?)" "3i" "" "splicing affected" "" "" "0000788618" "00018576" "33" "286" "3" "286" "3" "c.286+3G>A" "r.(?)" "p.(?)" "3i" "" "" "" "" "0000788619" "00018576" "99" "0" "0" "0" "0" "c.(286+1_287-1)_*159{0}" "r.?" "p.?" "3i_8_" "" "deletion, large" "" "" "0000788620" "00018576" "99" "287" "-1" "540" "1" "c.(286+1_287-1)_(540+1_541-1)del" "r.(?)" "p.(0?)" "3i_5i" "" "deletion, large" "" "" "0000788621" "00018576" "77" "287" "-1" "540" "1" "c.(286+1_287-1)_(540+1_541-1)dup" "r.(?)" "p.(0?)" "3i_5i" "" "duplication, large" "" "" "0000788622" "00018576" "33" "287" "-26" "287" "-26" "c.287-26A>G" "r.(?)" "p.(?)" "3i" "" "" "" "" "0000788623" "00018576" "99" "287" "-6" "287" "-3" "c.287-6_287-3del" "r.spl?" "p.(?)" "3i" "" "splicing affected" "" "" "0000788624" "00018576" "99" "287" "-3" "287" "-3" "c.287-3C>G" "r.spl?" "p.(?)" "3i" "" "splicing affected" "" "" "0000788625" "00018576" "77" "287" "-2" "287" "-2" "c.287-2A>G" "r.spl?" "p.(?)" "3i" "" "splicing affected" "" "" "0000788626" "00018576" "77" "287" "-1" "287" "-1" "c.287-1G>A" "r.spl?" "p.(?)" "3i" "" "splicing affected" "" "" "0000788627" "00018576" "77" "287" "-1" "287" "-1" "c.287-1G>C" "r.spl?" "p.(?)" "3i" "" "splicing affected" "" "" "0000788628" "00018576" "77" "287" "0" "287" "0" "c.287G>A" "r.(?)" "p.(Gly96Asp)" "4" "" "missense" "" "" "0000788629" "00018576" "77" "292" "0" "292" "0" "c.292T>C" "r.(?)" "p.(Cys98Arg)" "4" "0.00" "missense" "" "" "0000788630" "00018576" "77" "293" "0" "293" "0" "c.293G>A" "r.(?)" "p.(Cys98Tyr)" "4" "" "missense" "" "" "0000788631" "00018576" "57" "296" "0" "296" "0" "c.296G>A" "r.(?)" "p.(Gly99Asp)" "4" "0.00" "missense" "0.954" "93.77" "0000788632" "00018576" "99" "297" "0" "297" "0" "c.297del" "r.(?)" "p.(Ser100Leufs*4)" "4" "" "frameshift" "" "" "0000788633" "00018576" "77" "298" "0" "298" "0" "c.298T>C" "r.(?)" "p.(Ser100Pro)" "4" "" "missense" "" "" "0000788634" "00018576" "33" "300" "0" "300" "0" "c.300T>C" "r.(=)" "p.(Ser100=)" "4" "" "silent" "" "" "0000788635" "00018576" "77" "302" "0" "302" "0" "c.302G>A" "r.(?)" "p.(Cys101Tyr)" "4" "0.00" "missense" "0.922" "193.72" "0000788636" "00018576" "55" "305" "0" "305" "0" "c.305C>A" "r.(?)" "p.(Ala102Glu)" "4" "0.00" "missense" "0.922" "106.71" "0000788637" "00018576" "77" "311" "0" "311" "0" "c.311delinsGG" "r.(?)" "p.(Asn104Argfs*15)" "4" "" "frameshift" "" "" "0000788638" "00018576" "55" "314" "0" "316" "0" "c.314_316del" "r.(?)" "p.(Ile105del)" "4" "" "deletion, small" "" "" "0000788639" "00018576" "99" "320" "0" "320" "0" "c.320G>A" "r.(?)" "p.(Gly107Glu)" "4" "" "missense" "" "" "0000788640" "00018576" "77" "325" "0" "335" "0" "c.325_335del" "r.(?)" "p.(Asn109Leufs*6)" "4" "" "frameshift" "" "" "0000788641" "00018576" "99" "331" "0" "332" "0" "c.331_332del" "r.(?)" "p.(Leu111Serfs*7)" "4" "" "frameshift" "" "" "0000788642" "00018576" "77" "332" "0" "334" "0" "c.332_334del" "r.(?)" "p.(Leu111_Ala112delinsPro)" "4" "" "deletion, small" "" "" "0000788643" "00018576" "55" "332" "0" "332" "0" "c.332T>C" "r.(?)" "p.(Leu111Pro)" "4" "0.00" "missense" "0.966" "97.78" "0000788644" "00018576" "99" "332" "0" "332" "0" "c.332T>G" "r.(?)" "p.(Leu111Arg)" "4" "" "missense" "" "" "0000788645" "00018576" "79" "338" "0" "338" "0" "c.338G>A" "r.(?)" "p.(Cys113Tyr)" "4" "0.00" "missense" "0.910" "193.72" "0000788646" "00018576" "77" "339" "0" "352" "0" "c.339_352del" "r.(?)" "p.(Cys113*)" "4" "" "nonsense" "" "" "0000788647" "00018576" "77" "343" "0" "343" "0" "c.343C>T" "r.(?)" "p.(Arg115*)" "4" "" "nonsense" "" "" "0000788648" "00018576" "33" "344" "0" "344" "0" "c.344G>A" "r.(?)" "p.(Arg115Gln)" "4" "0.21" "missense" "0.297" "42.81" "0000788649" "00018576" "33" "365" "0" "365" "0" "c.365A>G" "r.(?)" "p.(Asn122Ser)" "4" "1.00" "missense" "0.359" "46.24" "0000788650" "00018576" "75" "379" "0" "379" "0" "c.379A>C" "r.(?)" "p.(Ile127Leu)" "4" "0.27" "missense" "0.724" "4.86" "0000788651" "00018576" "77" "379" "0" "379" "0" "c.379dup" "r.(?)" "p.(Ile127Asnfs*28)" "4" "" "frameshift" "" "" "0000788652" "00018576" "57" "380" "0" "380" "0" "c.380T>A" "r.(?)" "p.(Ile127Asn)" "4" "0.00" "missense" "0.953" "148.91" "0000788653" "00018576" "77" "380" "0" "380" "0" "c.380T>G" "r.(?)" "p.(Ile127Ser)" "4" "" "missense" "" "" "0000788654" "00018576" "55" "383" "0" "383" "0" "c.383A>C" "r.(?)" "p.(Tyr128Ser)" "4" "0.13" "missense" "0.861" "143.11" "0000788655" "00018576" "99" "384" "0" "384" "0" "c.384C>A" "r.(?)" "p.(Tyr128*)" "4" "" "nonsense" "" "" "0000788656" "00018576" "99" "392" "0" "392" "0" "c.392del" "r.(?)" "p.(Pro131Hisfs*5)" "4" "" "frameshift" "" "" "0000788657" "00018576" "55" "395" "0" "395" "0" "c.395A>C" "r.(?)" "p.(His132Pro)" "4" "0.03" "missense" "0.96" "76.28" "0000788658" "00018576" "33" "402" "0" "402" "0" "c.402T>C" "r.(=)" "p.(Tyr134=)" "4" "" "silent" "" "" "0000788659" "00018576" "77" "412" "0" "412" "0" "c.412G>A" "r.(?)" "p.(Asp138Asn)" "4" "0.00" "missense" "" "" "0000788660" "00018576" "57" "416" "0" "416" "0" "c.416T>G" "r.(?)" "p.(Leu139Arg)" "4" "0.00" "missense" "0.961" "101.88" "0000788661" "00018576" "77" "418" "0" "418" "0" "c.418G>T" "r.(?)" "p.(Val140Phe)" "4" "0.00" "missense" "0.857" "49.94" "0000788662" "00018576" "57" "419" "0" "419" "0" "c.419T>A" "r.(?)" "p.(Val140Asp)" "4" "0.00" "missense" "0.951" "152.01" "0000788663" "00018576" "99" "423" "0" "423" "0" "c.423del" "r.(?)" "p.(Asp142Ilefs*2)" "4" "" "frameshift" "" "" "0000788664" "00018576" "99" "423" "1" "423" "1" "c.423+1G>A" "r.spl?" "p.(?)" "4i" "" "splicing affected" "" "" "0000788665" "00018576" "99" "423" "1" "423" "1" "c.423+1G>C" "r.spl?" "p.(?)" "4i" "" "splicing affected" "" "" "0000788666" "00018576" "33" "423" "20" "423" "20" "c.423+20T>A" "r.(?)" "p.(=)" "4i" "" "" "" "" "0000788667" "00018576" "33" "423" "46" "423" "46" "c.423+46del" "r.(?)" "p.(?)" "4i" "" "" "" "" "0000788668" "00018576" "77" "424" "-3" "424" "-3" "c.424-3C>G" "r.spl?" "p.?" "4i" "" "splicing affected" "" "" "0000788669" "00018576" "99" "424" "-1" "424" "-1" "c.424-1G>A" "r.spl?" "p.(?)" "4i" "" "splicing affected" "" "" "0000788670" "00018576" "99" "435" "0" "435" "0" "c.435del" "r.(?)" "p.(Phe146Serfs*12)" "5" "" "frameshift" "" "" "0000788671" "00018576" "55" "436" "0" "436" "0" "c.436T>G" "r.(?)" "p.(Phe146Val)" "5" "0.00" "missense" "0.976" "49.94" "0000788672" "00018576" "33" "440" "0" "440" "0" "c.440A>G" "r.(?)" "p.(Tyr147Cys)" "5" "0.00" "missense" "0.874" "193.72" "0000788673" "00018576" "77" "441" "0" "441" "0" "c.441del" "r.(?)" "p.(Tyr147*)" "5" "" "nonsense" "" "" "0000788674" "00018576" "77" "445" "0" "445" "0" "c.445C>T" "r.(?)" "p.(Gln149*)" "5" "" "nonsense" "" "" "0000788675" "00018576" "97" "447" "0" "447" "0" "c.447G>T" "r.(?)" "p.(Gln149His)" "5" "0.01" "missense" "0.874" "24.08" "0000788676" "00018576" "55" "462" "0" "482" "0" "c.462_482del" "r.(?)" "p.(Glu154_Lys160del)" "5" "" "deletion, small" "" "" "0000788677" "00018576" "77" "464" "0" "464" "0" "c.464C>G" "r.(?)" "p.(Pro155Arg)" "5" "0.00" "missense" "0.935" "102.71" "0000788678" "00018576" "77" "464" "0" "464" "0" "c.464C>T" "r.(?)" "p.(Pro155Leu)" "5" "0.00" "missense" "0.935" "97.78" "0000788679" "00018576" "57" "470" "0" "470" "0" "c.470T>G" "r.(?)" "p.(Leu157Trp)" "5" "0.00" "missense" "0.980" "60.98" "0000788680" "00018576" "53" "487" "0" "487" "0" "c.487T>A" "r.(?)" "p.(Ser163Thr)" "5" "0.91" "missense" "0.390" "57.75" "0000788681" "00018576" "11" "487" "0" "487" "0" "c.487T>C" "r.(?)" "p.(Ser163Pro)" "5" "1.00" "missense" "" "" "0000788682" "00018576" "77" "490" "0" "490" "0" "c.490C>T" "r.(?)" "p.(Gln164*)" "5" "" "nonsense" "" "" "0000788683" "00018576" "77" "493" "0" "493" "0" "c.493del" "r.(?)" "p.(Glu165Lysfs*10)" "5" "" "frameshift" "" "" "0000788684" "00018576" "99" "502" "0" "502" "0" "c.502dup" "r.(?)" "p.(Gln168Profs*11)" "5" "" "frameshift" "" "" "0000788685" "00018576" "99" "505" "0" "505" "0" "c.505C>T" "r.(?)" "p.(Gln169*)" "5" "" "nonsense" "" "" "0000788686" "00018576" "33" "520" "0" "520" "0" "c.520A>G" "r.(?)" "p.(Ile174Val)" "5" "0.61" "missense" "0.366" "29.61" "0000788687" "00018576" "99" "532" "0" "532" "0" "c.532G>T" "r.(?)" "p.(Glu178*)" "5" "" "nonsense" "" "" "0000788688" "00018576" "99" "540" "0" "540" "0" "c.540G>C" "r.spl?" "p.(?)" "5" "" "splicing affected" "" "" "0000788689" "00018576" "77" "541" "-1" "765" "1" "c.(540+1_541-1)_(765+1_766-1)del" "r.(?)" "p.(Asp181_Lys255del)" "5i_7i" "" "deletion, large" "" "" "0000788690" "00018576" "99" "540" "2" "540" "2" "c.540+2T>C" "r.(spl?)" "p.(?)" "5i" "" "splicing affected?" "" "" "0000788691" "00018576" "99" "541" "0" "541" "0" "c.541G>T" "r.spl?" "p.(Asp181Lys765del)" "6" "" "splicing affected" "" "" "0000788699" "00018576" "77" "544" "0" "550" "0" "c.544_550del" "r.(?)" "p.(Gly182Thrfs*36)" "6" "" "frameshift" "" "" "0000788700" "00018576" "77" "546" "0" "546" "0" "c.546del" "r.(?)" "p.(Leu183Serfs*37)" "6" "" "frameshift" "" "" "0000788701" "00018576" "77" "552" "0" "552" "0" "c.552C>G" "r.(?)" "p.(Tyr184*)" "6" "" "nonsense" "" "" "0000788702" "00018576" "33" "552" "0" "552" "0" "c.552C>T" "r.(=)" "p.(Tyr184=)" "6" "" "silent" "" "" "0000788703" "00018576" "77" "556" "0" "556" "0" "c.556T>C" "r.(?)" "p.(Cys186Arg)" "6" "0.00" "missense" "0.955" "179.53" "0000788704" "00018576" "99" "557" "0" "557" "0" "c.557G>A" "r.(?)" "p.(Cys186Tyr)" "6" "" "missense" "" "" "0000788705" "00018576" "77" "560" "0" "561" "0" "c.560_561del" "r.(?)" "p.(Ile187Thrfs*6)" "6" "" "frameshift" "" "" "0000788706" "00018576" "77" "565" "0" "565" "0" "c.565dup" "r.(?)" "p.(Cys189Leufs*5)" "6" "" "frameshift" "" "" "0000788707" "00018576" "77" "565" "0" "565" "0" "c.565T>C" "r.(?)" "p.(Cys189Arg)" "6" "" "missense" "" "" "0000788708" "00018576" "77" "572" "0" "572" "0" "c.572G>A" "r.(?)" "p.(Cys191Tyr)" "6" "" "missense" "" "" "0000788709" "00018576" "77" "574" "0" "574" "0" "c.574T>C" "r.(?)" "p.(Cys192Arg)" "6" "" "missense" "" "" "0000788710" "00018576" "77" "575" "0" "575" "0" "c.575G>A" "r.(?)" "p.(Cys192Tyr)" "6" "" "missense" "" "" "0000788711" "00018576" "55" "583" "0" "585" "0" "c.583_585del" "r.(?)" "p.(Ser195del)" "6" "" "deletion, small" "" "" "0000788712" "00018576" "99" "587" "0" "587" "0" "c.587G>A" "r.(?)" "p.(Cys196Tyr)" "6" "" "missense" "" "" "0000788713" "00018576" "99" "587" "0" "587" "0" "c.587G>T" "r.(?)" "p.(Cys196Phe)" "6" "0.00" "missense" "0.919" "204.39" "0000788714" "00018576" "77" "589" "0" "589" "0" "c.589C>T" "r.(?)" "p.(Pro197Ser)" "6" "0.00" "missense" "0.981" "73.35" "0000788715" "00018576" "55" "590" "0" "590" "0" "c.590C>G" "r.(?)" "p.(Pro197Arg)" "6" "" "missense" "" "" "0000788716" "00018576" "99" "591" "0" "591" "0" "c.591del" "r.(?)" "p.(Ser198Alafs*22)" "6" "" "frameshift" "" "" "0000788717" "00018576" "77" "594" "0" "594" "0" "c.594C>A" "r.(?)" "p.(Ser198Arg)" "6" "0.00" "missense" "0.894" "109.21" "0000788718" "00018576" "99" "595" "0" "601" "0" "c.595_601del" "r.(?)" "p.(Tyr199Glyfs*19)" "6" "" "frameshift" "" "" "0000788719" "00018576" "77" "595" "0" "604" "0" "c.595_604delinsGG" "r.(?)" "p.(Tyr199Glyfs*20)" "6" "" "frameshift" "" "" "0000788720" "00018576" "99" "598" "0" "603" "0" "c.598_603delinsAGGTGA" "r.(?)" "p.(Trp200_Trp201delinsArg*)" "6" "" "nonsense" "" "" "0000788721" "00018576" "77" "600" "0" "600" "0" "c.600G>T" "r.(?)" "p.(Trp200Cys)" "6" "" "missense" "" "" "0000788722" "00018576" "55" "603" "0" "603" "0" "c.603G>T" "r.(?)" "p.(Trp201Cys)" "6" "0.00" "missense" "0.881" "214.36" "0000788723" "00018576" "55" "617" "0" "617" "0" "c.617A>G" "r.(?)" "p.(Tyr206Cys)" "6" "0.00" "missense" "0.978" "193.72" "0000788724" "00018576" "99" "620" "0" "621" "0" "c.620_621del" "r.(?)" "p.(Leu207Argfs*14)" "6" "" "frameshift" "" "" "0000788725" "00018576" "97" "623" "0" "623" "0" "c.623G>A" "r.(?)" "p.(Gly208Glu)" "6" "0.00" "missense" "0.961" "97.85" "0000788726" "00018576" "59" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Pro209Leu)" "6" "0.00" "missense" "0.963" "97.78" "0000788727" "00018576" "77" "642" "1" "642" "1" "c.642+1G>A" "r.spl?" "p.(?)" "6i" "" "splicing affected" "" "" "0000788728" "00018576" "77" "642" "1" "642" "1" "c.642+1G>T" "r.spl?" "p.(?)" "6i" "" "splicing affected" "" "" "0000788729" "00018576" "55" "642" "17" "642" "17" "c.642+17T>C" "r.(?)" "p.(?)" "6i" "" "" "" "" "0000788730" "00018576" "77" "643" "-2" "643" "-2" "c.643-2A>C" "r.spl?" "p.(?)" "6i" "" "splicing affected" "" "" "0000788743" "00018576" "77" "645" "0" "645" "0" "c.645del" "r.(?)" "p.(Tyr216Ilefs*4)" "7" "" "frameshift" "" "" "0000788744" "00018576" "55" "649" "0" "649" "0" "c.649C>A" "r.(?)" "p.(Arg217Ser)" "7" "0.00" "missense" "0.983" "109.21" "0000788745" "00018576" "77" "649" "0" "649" "0" "c.649C>G" "r.(?)" "p.(Arg217Gly)" "7" "0.00" "missense" "0.966" "125.13" "0000788746" "00018576" "77" "649" "0" "649" "0" "c.649C>T" "r.(?)" "p.(Arg217Cys)" "7" "" "missense" "" "" "0000788747" "00018576" "77" "650" "0" "650" "0" "c.650G>C" "r.(?)" "p.(Arg217Pro)" "7" "0.00" "missense" "0.974" "102.71" "0000788748" "00018576" "55" "650" "0" "650" "0" "c.650G>T" "r.(?)" "p.(Arg217Leu)" "7" "" "missense" "" "" "0000788749" "00018576" "77" "654" "0" "654" "0" "c.654G>A" "r.(?)" "p.(Trp218*)" "7" "" "nonsense" "" "" "0000788750" "00018576" "55" "654" "0" "654" "0" "c.654G>T" "r.(?)" "p.(Trp218Cys)" "7" "0.00" "missense" "0.914" "214.36" "0000788751" "00018576" "77" "660" "0" "660" "0" "c.660dup" "r.(?)" "p.(Asp221*)" "7" "" "nonsense" "" "" "0000788752" "00018576" "55" "670" "0" "670" "0" "c.670G>C" "r.(?)" "p.(Asp224His)" "7" "0.00" "missense" "0.960" "81.24" "0000788753" "00018576" "77" "685" "0" "686" "0" "c.685_686insCGCTTCACAGAGG" "r.(?)" "p.(Glu229Alafs*31)" "7" "" "frameshift" "" "" "0000788754" "00018576" "55" "688" "0" "688" "0" "c.688C>G" "r.(?)" "p.(Arg230Gly)" "7" "0.00" "missense" "0.963" "125.13" "0000788755" "00018576" "99" "688" "0" "688" "0" "c.688C>T" "r.(?)" "p.(Arg230Cys)" "7" "" "missense" "" "" "0000788756" "00018576" "99" "689" "0" "689" "0" "c.689G>A" "r.(?)" "p.(Arg230His)" "7" "" "missense" "" "" "0000788757" "00018576" "77" "689" "0" "689" "0" "c.689G>T" "r.(?)" "p.(Arg230Leu)" "7" "" "missense" "" "" "0000788758" "00018576" "33" "700" "0" "700" "0" "c.700C>T" "r.(=)" "p.(Leu234=)" "7" "" "silent" "" "" "0000788759" "00018576" "77" "701" "0" "701" "0" "c.701T>C" "r.(?)" "p.(Leu234Pro)" "7" "0.00" "missense" "0.983" "97.78" "0000788760" "00018576" "53" "704" "0" "704" "0" "c.704A>G" "r.(?)" "p.(Gln235Arg)" "7" "0.05" "missense" "0.564" "42.81" "0000788761" "00018576" "53" "706" "0" "706" "0" "c.706G>A" "r.(?)" "p.(Asp236Asn)" "7" "0.22" "missense" "0.419" "23.01" "0000788762" "00018576" "55" "710" "0" "710" "0" "c.710C>G" "r.(?)" "p.(Pro237Arg)" "7" "0.01" "missense" "0.834" "102.71" "0000788763" "00018576" "99" "713" "0" "713" "0" "c.713del" "r.(?)" "p.(Phe238Serfs*10)" "7" "" "frameshift" "" "" "0000788764" "00018576" "77" "718" "0" "719" "0" "c.718_719del" "r.(?)" "p.(Leu240Ilefs*15)" "7" "" "frameshift" "" "" "0000788765" "00018576" "77" "718" "0" "721" "0" "c.718_721del" "r.(?)" "p.(Leu240Thrfs*7)" "7" "" "frameshift" "" "" "0000788766" "00018576" "77" "723" "0" "723" "0" "c.723C>A" "r.(?)" "p.(Tyr241*)" "7" "" "nonsense" "" "" "0000788767" "00018576" "77" "724" "0" "724" "0" "c.724C>A" "r.(?)" "p.(Arg242Ser)" "7" "0.00" "missense" "0.948" "109.21" "0000788768" "00018576" "77" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Arg242Cys)" "7" "" "missense" "" "" "0000788769" "00018576" "77" "724" "0" "724" "0" "c.724del" "r.(?)" "p.(Arg242Alafs*6)" "7" "" "frameshift" "" "" "0000788770" "00018576" "99" "725" "0" "725" "0" "c.725G>A" "r.(?)" "p.(Arg242His)" "7" "" "missense" "" "" "0000788771" "00018576" "99" "740" "0" "740" "0" "c.740T>G" "r.(?)" "p.(Met247Arg)" "7" "0.00" "missense" "0.922" "91.64" "0000788772" "00018576" "55" "745" "0" "745" "0" "c.745T>G" "r.(?)" "p.(Cys249Gly)" "7" "0.00" "missense" "" "" "0000788773" "00018576" "77" "745" "0" "748" "0" "c.745_748dup" "r.(?)" "p.(Thr250Metfs*7)" "7" "" "frameshift" "" "" "0000788774" "00018576" "55" "746" "0" "746" "0" "c.746G>A" "r.(?)" "p.(Cys249Tyr)" "7" "0.00" "missense" "0.969" "193.72" "0000788775" "00018576" "59" "746" "0" "746" "0" "c.746G>T" "r.(?)" "p.(Cys249Phe)" "7" "0.00" "missense" "0.953" "204.39" "0000788776" "00018576" "99" "758" "0" "758" "0" "c.758G>A" "r.(?)" "p.(Cys253Tyr)" "7" "" "missense" "" "" "0000788777" "00018576" "55" "761" "0" "761" "0" "c.761C>T" "r.(?)" "p.(Pro254Leu)" "7" "0.00" "missense" "0.981" "97.78" "0000788778" "00018576" "55" "763" "0" "763" "0" "c.763A>G" "r.(?)" "p.(Lys255Glu)" "7" "" "missense" "" "" "0000788779" "00018576" "33" "765" "4" "765" "4" "c.765+4del" "r.(?)" "p.(?)" "7i" "" "" "" "" "0000788780" "00018576" "55" "765" "13" "765" "13" "c.765+13G>A" "r.(?)" "p.(?)" "7i" "" "" "" "" "0000788781" "00018576" "55" "765" "16" "765" "16" "c.765+16G>C" "r.(?)" "p.(?)" "7i" "" "" "" "" "0000788782" "00018576" "33" "765" "29" "765" "29" "c.765+29G>A" "r.(?)" "p.(?)" "7i" "" "" "" "" "0000788783" "00018576" "77" "766" "-1" "1002" "0" "c.(765+1_766-1)_(*159_?)del" "r.(?)" "p.?" "8" "" "deletion, large" "" "" "0000788784" "00018576" "77" "780" "0" "780" "0" "c.780del" "r.(?)" "p.(Ala262Leufs*8)" "8" "" "frameshift" "" "" "0000788785" "00018576" "77" "826" "0" "826" "0" "c.826A>G" "r.(?)" "p.(Lys276Glu)" "8" "0.09" "missense" "0.684" "56.87" "0000791071" "00018576" "71" "41" "0" "41" "0" "c.41C>T" "r.(?)" "p.(Pro14Leu)" "1" "0.17" "missense" "0.319" "97.78" "0000791072" "00018576" "79" "137" "0" "137" "0" "c.137G>T" "r.(?)" "p.(Arg46Leu)" "" "0.00" "missense" "0.927" "101.88" "0000791073" "00018576" "77" "182" "0" "182" "0" "c.182A>C" "r.(?)" "p.(Tyr61Ser)" "" "0.00" "missense" "0.803" "143.11" "0000791074" "00018576" "55" "303" "0" "303" "0" "c.303T>G" "r.(?)" "p.(Cys101Trp)" "" "0.07" "missense" "0.900" "214.36" "0000791076" "00018576" "77" "386" "0" "386" "0" "c.386C>T" "r.(?)" "p.(Pro129Leu)" "" "0.00" "missense" "0.943" "97.78" "0000791077" "00018576" "77" "412" "0" "412" "0" "c.412G>A" "r.(?)" "p.(Asp138Asn)" "" "0.00" "missense" "0.813" "23.01" "0000791078" "00018576" "77" "601" "0" "601" "0" "c.601T>A" "r.(?)" "p.(Trp201Arg)" "" "0.00" "missense" "0.969" "101.29" "0000791079" "00018576" "55" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0.03" "missense" "0.900" "125.13" "0000791080" "00018576" "75" "650" "0" "650" "0" "c.650G>A" "r.(?)" "p.(Arg217His)" "" "0.00" "missense" "0.957" "28.82" "0000791083" "00018576" "77" "19" "0" "42" "0" "c.19_42dup" "r.(?)" "p.(Leu7_Pro14dup)" "" "" "duplication" "" "" "0000791084" "00018576" "77" "36" "0" "36" "0" "c.36del" "r.(?)" "p.(Leu13Cysfs*64)" "" "" "frameshift" "" "" "0000791085" "00018576" "77" "73" "-1" "73" "-1" "c.73-1G>A" "r.spl?" "p.(?)" "" "" "splicing affected?" "" "" "0000791086" "00018576" "77" "78" "0" "93" "0" "c.78_93del" "r.(?)" "p.(Arg27Leufs*45)" "" "" "frameshift" "" "" "0000791087" "00018576" "77" "87" "0" "90" "0" "c.87_90dup" "r.(?)" "p.(Thr31Profs*33)" "" "" "frameshift" "" "" "0000791088" "00018576" "99" "199" "0" "203" "0" "c.199_203del" "r.(?)" "p.(Lys67Trpfs*12)" "" "" "frameshift" "" "" "0000791089" "00018576" "77" "445" "0" "445" "0" "c.445del" "r.(?)" "p.(Gln149Serfs*9)" "" "" "frameshift" "" "" "0000791090" "00018576" "77" "453" "0" "453" "0" "c.453del" "r.(?)" "p.(Lys151Asnfs*7)" "" "" "frameshift" "" "" "0000791091" "00018576" "77" "503" "0" "503" "0" "c.503dup" "r.(?)" "p.(Gln169Alafs*10)" "" "" "frameshift" "" "" "0000791092" "00018576" "77" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Gln172*)" "" "" "nonsense" "" "" "0000791093" "00018576" "77" "541" "-2" "541" "-2" "c.541-2A>G" "r.spl?" "p.?" "" "" "splicing affected?" "" "" "0000791094" "00018576" "77" "541" "0" "541" "0" "c.541dup" "r.(?)" "p.(Asp181Glyfs*13)" "" "" "frameshift" "" "" "0000791095" "00018576" "77" "637" "0" "637" "0" "c.637dup" "r.(?)" "p.(Met213Asnfs*9)" "" "" "frameshift" "" "" "0000791096" "00018576" "77" "642" "1" "642" "1" "c.642+1G>C" "r.spl?" "p.?" "" "" "splicing affected?" "" "" "0000791117" "00018576" "77" "-151" "0" "286" "1" "c.(?_-151)_(286+1_287-1)del" "r.(?)" "p.?" "" "" "deletion, large" "" "" "0000791118" "00018576" "77" "201" "-1" "286" "1" "c.(200+1_201-1)_(286+1_287-1)del" "r.(?)" "p.?" "" "" "deletion, large" "" "" "0000791119" "00018576" "77" "541" "-1" "642" "1" "c.(540+1_541-1)_(642+1_643-1)dup" "r.(?)" "p.?" "" "" "deletion, large" "" "" "0000798910" "00018576" "55" "749" "0" "749" "0" "c.749C>T" "r.(?)" "p.(Thr250Ile)" "" "0.00" "missense" "0.893" "89.28" "0000798911" "00018576" "50" "530" "0" "530" "0" "c.530G>A" "r.(?)" "p.(Arg177His)" "" "" "" "" "" "0000798912" "00018576" "70" "292" "0" "292" "0" "c.292T>C" "r.(?)" "p.(Cys98Arg)" "" "" "" "" "" "0000830275" "00018576" "90" "666" "0" "678" "0" "c.666_678del" "r.(?)" "p.(Arg223Glnfs*21)" "" "" "" "" "" "0000830276" "00018576" "90" "392" "0" "392" "0" "c.392del" "r.(?)" "p.(Pro131Hisfs*5)" "" "" "" "" "" "0000830277" "00018576" "90" "392" "0" "392" "0" "c.392del" "r.(?)" "p.(Pro131Hisfs*5)" "" "" "" "" "" "0000830278" "00018576" "75" "642" "0" "642" "0" "c.642G>T" "r.(?)" "p.(Gln214His)" "" "0.16" "missense" "0.911" "24.08" "0000830279" "00018576" "90" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Arg242Cys)" "" "" "" "" "" "0000830280" "00018576" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Cys253Valfs*5)" "" "" "frameshift" "" "" "0000857139" "00018576" "10" "766" "-40" "766" "-40" "c.766-40C>T" "r.(=)" "p.(=)" "" "" "" "" "" "0000857140" "00018576" "50" "635" "0" "635" "0" "c.635T>A" "r.(?)" "p.(Leu212His)" "" "" "" "" "" "0000882936" "00018576" "90" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Arg242Cys)" "" "" "" "" "" "0000882937" "00018576" "10" "487" "0" "487" "0" "c.487T>C" "r.(?)" "p.(Ser163Pro)" "" "1.00" "" "" "" "0000882938" "00018576" "50" "440" "0" "440" "0" "c.440A>G" "r.(?)" "p.(Tyr147Cys)" "" "" "" "" "" "0000882939" "00018576" "10" "424" "-19" "424" "-14" "c.424-19_424-14dup" "r.(=)" "p.(=)" "" "" "" "" "" "0000882943" "00018576" "90" "16" "0" "16" "0" "c.16del" "r.(?)" "p.(Ala6Profs*4)" "" "" "frameshift" "" "" "0000910842" "00018576" "90" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Arg90Ter)" "" "" "" "" "" "0000910846" "00018576" "10" "8" "0" "8" "0" "c.8C>G" "r.(?)" "p.(Ala3Gly)" "" "" "" "" "" "0000917199" "00018576" "55" "379" "0" "379" "0" "c.379A>G" "r.(?)" "p.(Ile127Val)" "" "0.19" "missense" "0.562" "29.61" "0000917721" "00018576" "77" "302" "0" "302" "0" "c.302G>A" "r.(?)" "p.(Cys101Tyr)" "" "0.00" "missense" "" "" "0000917723" "00018576" "77" "303" "0" "303" "0" "c.303T>G" "r.(?)" "p.(Cys101Trp)" "" "0.07" "missense" "" "" "0000923008" "00018576" "30" "643" "-13" "643" "-13" "c.643-13C>T" "r.(=)" "p.(=)" "" "" "" "" "" "0000923009" "00018576" "50" "529" "0" "529" "0" "c.529C>T" "r.(?)" "p.(Arg177Cys)" "" "" "" "" "" "0000927513" "00018576" "77" "769" "0" "769" "0" "c.769C>G" "r.(?)" "p.(Leu257Val)" "8" "0.00" "missense" "0.808" "32" "0000928065" "00018576" "50" "380" "0" "380" "0" "c.380T>C" "r.(?)" "p.(Ile127Thr)" "" "" "" "" "" "0000932841" "00018576" "77" "565" "0" "565" "0" "c.565T>G" "r.(?)" "p.(Cys189Gly)" "" "0.0" "missense" "0.971" "159.00" "0000943930" "00018576" "57" "730" "0" "730" "0" "c.730C>G" "r.(?)" "p.(His244Asp)" "" "0.0" "missense" "0.960" "81.00" "0000945883" "00018576" "70" "338" "0" "338" "0" "c.338G>A" "r.(?)" "p.(Cys113Tyr)" "" "" "" "" "" "0000947041" "00018576" "50" "837" "0" "837" "0" "c.837A>G" "r.(?)" "p.(=)" "" "" "" "" "" "0000947042" "00018576" "90" "654" "0" "654" "0" "c.654G>A" "r.(?)" "p.(Trp218Ter)" "" "" "" "" "" "0000947043" "00018576" "30" "424" "-19" "424" "-14" "c.424-19_424-14dup" "r.(=)" "p.(=)" "" "" "" "" "" "0000947044" "00018576" "30" "72" "17" "72" "17" "c.72+17C>G" "r.(=)" "p.(=)" "" "" "" "" "" "0000952117" "00018576" "90" "424" "0" "424" "0" "c.424G>T" "r.(?)" "p.(Asp142Tyr)" "" "" "frameshift" "" "" "0000960645" "00018576" "70" "688" "0" "688" "0" "c.688C>T" "r.(?)" "p.(Arg230Cys)" "" "" "" "" "" "0000960647" "00018576" "50" "269" "0" "269" "0" "c.269G>A" "r.(?)" "p.(Arg90Gln)" "" "" "" "" "" "0000972082" "00018576" "90" "201" "-2" "201" "-2" "c.201-2A>G" "r.spl" "p.?" "2i" "" "splicing affected" "" "" "0000973466" "00018576" "30" "424" "-16" "424" "-14" "c.424-16_424-14dup" "r.(=)" "p.(=)" "" "" "" "" "" "0000990557" "00018576" "50" "644" "0" "644" "0" "c.644C>T" "r.(?)" "p.(Ala215Val)" "" "" "" "" "" "0000990561" "00018576" "90" "137" "0" "137" "0" "c.137G>A" "r.(?)" "p.(Arg46Gln)" "" "" "" "" "" "0000990562" "00018576" "50" "72" "0" "72" "0" "c.72G>C" "r.(?)" "p.(Gln24His)" "" "" "" "" "" "0001013239" "00018576" "30" "606" "0" "606" "0" "c.606C>T" "r.(?)" "p.(=)" "" "" "" "" "" "0001013240" "00018576" "90" "600" "0" "600" "0" "c.600G>T" "r.(?)" "p.(Trp200Cys)" "" "" "" "" "" "0001013241" "00018576" "10" "424" "-16" "424" "-14" "c.424-16_424-14del" "r.(=)" "p.(=)" "" "" "" "" "" "0001016691" "00018576" "90" "-1" "0" "72" "1" "c.(?_-1)_(72+1_73-1)del" "r.0?" "p.0?" "" "" "" "" "" "0001016799" "00018576" "77" "1" "0" "1" "0" "c.1A>T" "r.?" "p.?" "1" "" "nonsense" "" "" "0001016807" "00018576" "77" "1" "0" "1" "0" "c.1A>G" "r.?" "p.?" "1" "" "nonsense" "" "" "0001024061" "00018576" "10" "424" "-19" "424" "-14" "c.424-19_424-14del" "r.(=)" "p.(=)" "" "" "" "" "" "0001024062" "00018576" "30" "424" "-19" "424" "-14" "c.424-19_424-14dup" "r.(=)" "p.(=)" "" "" "" "" "" "0001024063" "00018576" "50" "233" "0" "233" "0" "c.233A>G" "r.(?)" "p.(Lys78Arg)" "" "" "" "" "" "0001024064" "00018576" "90" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "" "" "" "" "" "0001024065" "00018576" "70" "119" "0" "119" "0" "c.119A>C" "r.(?)" "p.(Lys40Thr)" "" "" "" "" "" "0001031484" "00018576" "70" "653" "0" "653" "0" "c.653G>C" "r.(?)" "p.(Trp218Ser)" "" "" "" "" "" "0001031485" "00018576" "50" "647" "0" "647" "0" "c.647A>G" "r.(?)" "p.(Tyr216Cys)" "" "" "" "" "" "0001031488" "00018576" "50" "177" "0" "177" "0" "c.177G>C" "r.(?)" "p.(Gln59His)" "" "" "" "" "" "0001031489" "00018576" "90" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "" "" "" "" "" "0001031492" "00018576" "50" "43" "0" "43" "0" "c.43G>A" "r.(?)" "p.(Ala15Thr)" "" "" "" "" "" "0001045616" "00018576" "90" "450" "0" "450" "0" "c.450C>G" "r.(?)" "p.(Tyr150*)" "" "" "" "" "" "0001045618" "00018576" "90" "72" "1" "72" "13" "c.72+1_72+13del" "r.(?)" "p.(Ala21Profs*52)" "" "" "" "" "" "0001047078" "00018576" "50" "763" "0" "763" "0" "c.763A>G" "r.(?)" "p.(Lys255Glu)" "" "" "" "" "" "0001047194" "00018576" "30" "540" "218" "540" "218" "c.540+218C>T" "r.(?)" "p.(?)" "" "" "" "" "" "0001048120" "00018576" "90" "384" "0" "384" "0" "c.384C>A" "r.(?)" "p.(Tyr128Ter)" "" "" "" "" "" "0001048769" "00018576" "70" "689" "0" "689" "0" "c.689G>A" "r.(?)" "p.(Arg230His)" "" "" "" "" "" "0001048779" "00018576" "30" "32" "0" "32" "0" "c.32G>A" "r.(?)" "p.(Arg11His)" "" "" "" "" "" "0001049008" "00018576" "30" "424" "-19" "424" "-14" "c.424-19_424-14dup" "r.(?)" "p.(?)" "" "" "" "" "" "0001049079" "00018576" "10" "487" "0" "487" "0" "c.487T>C" "r.(?)" "p.(Ser163Pro)" "" "" "" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 372 "{{screeningid}}" "{{variantid}}" "0000037071" "0000064196" "0000037072" "0000064197" "0000037073" "0000064198" "0000037074" "0000064199" "0000037075" "0000064200" "0000037076" "0000064201" "0000037077" "0000064202" "0000037078" "0000064203" "0000072519" "0000116422" "0000072520" "0000116417" "0000072521" "0000116418" "0000072522" "0000116419" "0000072523" "0000116428" "0000072524" "0000116432" "0000072525" "0000116433" "0000072526" "0000116434" "0000072527" "0000116435" "0000072528" "0000116442" "0000072529" "0000116446" "0000072530" "0000116447" "0000072531" "0000116448" "0000072532" "0000116453" "0000072533" "0000116451" "0000072534" "0000116454" "0000072535" "0000116455" "0000072536" "0000116456" "0000072536" "0000116457" "0000072537" "0000116460" "0000072538" "0000116461" "0000072539" "0000116464" "0000072540" "0000116466" "0000072541" "0000116468" "0000072542" 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