### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SDHA) # 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}}" "SDHA" "succinate dehydrogenase complex, subunit A, flavoprotein (Fp)" "5" "p15" "unknown" "NG_012339.1" "UD_128151320079" "" "http://www.LOVD.nl/SDHA" "" "1" "10680" "6389" "600857" "1" "1" "1" "1" "Using Mutalyzer? (https://mutalyzer.nl/normalizer/) Make sure to use this gene-transcript configuration: NG_012339.1(NM_004168.4):\r\n\r\nCITATION: if you benefit from the use of this database and publish findings, please cite; Bayley JP, Devilee P, Taschner PE (2005). BMC Med Genet. 6:39.\r\n\r\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\nSDHA\r\nSDHA is associated with paragangliomas and pheochromocytomas. SDHA has at least one pseudogene, which is located on chromosome 3p29 (Parfait et al., 2000). The pseudogene(s) may interfere with sequence variation detection. \r\n\r\nThe variants included in the database were derived from the published literature or submitted directly and, where necessary, annotated to conform to current HGVS mutation nomenclature. When you notice any omissions or mistakes, please let us know (thank you).\r\n\r\nDisclaimer: inclusion of sequence variants in the SDH mutation database does not imply that there is convincing evidence for pathogenicity." "" "g" "http://databases.lovd.nl/shared/refseq/SDHA_codingDNA.html" "1" "" "LUMC SDHA gene variant database\r\n
\r\n
" "-1" "" "-1" "00001" "2005-01-05 00:00:00" "01713" "2023-01-20 15:29:50" "00000" "2025-11-01 13:22:20" ## 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}}" "00018570" "SDHA" "succinate dehydrogenase complex, subunit A, flavoprotein (Fp)" "001" "NM_004168.2" "" "NP_004159.2" "" "" "" "-115" "2275" "1995" "218356" "256815" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00038" "LS" "Leigh syndrome (LS)" "AR;Mi" "256000" "" "" "" "00008" "2012-08-30 16:26:44" "00006" "2025-01-31 09:48:07" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00211" "ENC" "encephalopathy (ENC)" "" "" "" "" "" "00006" "2013-09-24 21:07:28" "00006" "2015-12-07 07:11:25" "00352" "CMD" "cardiomyopathy, dilated (CMD)" "" "" "" "" "" "00006" "2014-03-13 16:16:15" "00006" "2015-03-06 17:18:25" "00606" "-" "mitochondrial respiratory chain complex II deficiency" "AR" "252011" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00607" "CMD1GG" "cardiomyopathy, dilated, type 1GG (CMD-1GG)" "AR" "613642" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00608" "PGL5" "paragangliomas, type 5 (PGL-5)" "AD" "614165" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00999" "Carney complex" "Carney complex variant" "" "608837" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-08-13 09:29:05" "04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43" "04173" "LVNC" "ventricular noncompaction, left (LVNC)" "" "" "" "" "" "00006" "2015-01-20 15:35:56" "00006" "2015-10-12 17:03:37" "04293" "OPA" "atrophy, optic (OPA)" "" "" "" "" "" "00006" "2015-06-21 20:48:01" "00006" "2018-11-16 15:59:50" "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" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{geneid}}" "{{diseaseid}}" "SDHA" "00038" "SDHA" "00139" "SDHA" "00606" "SDHA" "00607" "SDHA" "00608" ## Individuals ## Do not remove or alter this header ## ## Count = 78 "{{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}}" "00036998" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036999" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037000" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00072357" "" "" "" "1" "" "01646" "" "OMIM600857:0002; 1 isolated case" "" "" "" "" "0" "" "" "" "" "00072358" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "" "" "0" "" "" "" "" "00072359" "" "" "" "1" "" "01646" "" "1 family 2 affected" "" "" "" "" "0" "" "" "" "" "00072360" "" "" "" "1" "" "01646" "" "OMIM600857:0001; 1 family 2 affected" "" "" "" "" "0" "" "" "" "" "00072361" "" "" "" "1" "" "01646" "" "OMIM600857:0004" "" "" "" "" "0" "" "" "" "" "00072963" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "France" "" "0" "" "" "" "" "00072964" "" "" "" "1" "" "01713" "" "" "" "" "" "" "0" "" "" "" "" "00072965" "" "" "" "2" "" "01713" "" "" "" "" "" "" "0" "" "" "" "" "00072966" "" "" "" "1" "" "01713" "" "" "" "" "" "" "0" "" "" "" "" "00072967" "" "" "" "1" "" "01713" "" "" "" "" "" "" "0" "" "" "" "" "00072985" "" "" "" "1" "" "01713" "" "OMIM600857:0004; 1 family 15 affected" "" "" "" "" "0" "" "" "Bedouin" "" "00073069" "" "" "" "1" "" "01713" "" "5 isolated cases" "" "" "" "" "0" "" "" "Dutch" "" "00073070" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "France" "" "0" "" "" "" "" "00073071" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Italy" "" "0" "" "" "" "" "00073072" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Italy" "" "0" "" "" "" "" "00073073" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "" "" "0" "" "" "" "" "00073084" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "" "" "0" "" "" "" "" "00073085" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "" "" "0" "" "" "" "" "00073086" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "" "" "0" "" "" "" "" "00073096" "" "" "" "1" "" "01662" "" "" "" "" "" "" "0" "" "" "" "" "00073097" "" "" "" "1" "" "01662" "" "" "" "" "" "" "0" "" "" "" "" "00073099" "" "" "" "1" "" "01662" "" "This patient is the same as described by {PMID:Horvath et al. (2006):16361598}" "" "" "" "" "0" "" "" "" "" "00079373" "" "" "" "1" "" "01713" "{PMID:Alston:22972948}" "mixed ethnicity parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00079375" "" "" "" "1" "" "01713" "{PMID:Belinsky:23109135}" "Wild type GIST" "" "" "United States" "" "0" "" "" "" "" "00079376" "" "" "" "2" "" "01713" "{PMID:Belinsky:23109135}, {PMID:Miettinen:23282968}" "Wild type GIST, SDHA positive gist" "" "" "United States" "" "0" "" "" "" "" "00079377" "" "" "" "2" "" "01713" "{PMID:Belinsky:23109135}, {PMID:Pantaleo:23612575}" "Wild type GIST" "" "" "United States" "" "0" "" "" "" "" "00079391" "" "" "" "1" "" "01713" "{PMID:von Dobschuetz:25595276}" "" "" "" "" "" "0" "" "" "" "" "00079392" "" "" "" "1" "" "01713" "{PMID:von Dobschuetz:25595276}" "" "" "" "" "" "0" "" "" "" "" "00079393" "" "" "" "1" "" "01713" "{PMID:Dwight:23633203}" "1 families 1 affected; Somatic" "" "" "Australia" "" "0" "" "" "" "" "00079401" "" "" "" "1" "" "01713" "{PMID:Gill:24625421}" "" "" "" "Australia" "" "0" "" "" "" "" "00079420" "" "" "" "1" "" "01713" "{PMID:Ma:23849264}" "11 years old" "" "" "China" "" "0" "" "" "" "" "00079421" "" "" "" "1" "" "01713" "{PMID:Mason:23797725}" "loss of SDHA staining" "" "" "Canada; United States" "" "0" "" "" "" "" "00079422" "" "" "" "1" "" "01713" "{PMID:Miettinen:23282968}" "SDHA positive GIST" "" "" "United States" "" "0" "" "" "" "" "00079427" "" "" "" "1" "" "01713" "{PMID:Miettinen:23282968}" "SDHA negative GIST" "" "" "United States" "" "0" "" "" "" "" "00079428" "" "" "" "1" "" "01713" "{PMID:Miettinen:23282968}" "SDHA negative GIST" "" "" "United States" "" "0" "" "" "" "" "00079429" "" "" "" "1" "" "01713" "{PMID:Miettinen:23282968}" "SDHA negative GIST" "" "" "United States" "" "0" "" "" "" "" "00079430" "" "" "" "1" "" "01713" "{PMID:Miettinen:23282968}" "SDHA negative GIST" "" "" "United States" "" "0" "" "" "" "" "00079431" "" "" "" "1" "" "01713" "{PMID:Miettinen:23282968}" "SDHA positive GIST" "" "" "United States" "" "0" "" "" "" "" "00079433" "" "" "" "1" "" "01713" "{PMID:Pantaleo:23612575}" "" "" "" "Italy" "" "0" "" "" "" "" "00079434" "" "" "" "1" "" "01713" "{PMID:Pantaleo:23612575}" "" "" "" "Italy" "" "0" "" "" "" "" "00079441" "" "" "" "1" "" "01713" "{PMID:Rattenberry:23666964}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00079442" "" "" "" "1" "" "01713" "{PMID:Rattenberry:23666964}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00079443" "" "" "" "1" "" "01713" "{PMID:Rattenberry:23666964}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00079444" "" "" "" "1" "" "01713" "{PMID:Rattenberry:23666964}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00079447" "" "" "" "1" "" "01713" "{PMID:Rattenberry:23666964}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00079451" "" "" "" "2" "" "01713" "{PMID:Rattenberry:23666964}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00079453" "" "" "" "1" "" "01713" "{PMID:Rattenberry:23666964}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00079454" "" "" "" "1" "" "01713" "{PMID:Rattenberry:23666964}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00079455" "" "" "" "1" "" "01713" "{PMID:Rattenberry:23666964}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00079456" "" "" "" "1" "" "01713" "{PMID:Rattenberry:23666964}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00079457" "" "" "" "1" "" "01713" "{PMID:Rattenberry:23666964}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00079464" "" "" "" "1" "" "01713" "{PMID:Welander:23750034}, {PMID:Welander:24694336}" "20 year old female" "" "" "Sweden" "" "0" "" "" "" "" "00079465" "" "" "" "1" "" "01713" "{PMID:Welander:24694336}" "" "" "" "Sweden" "" "0" "" "" "" "" "00079466" "" "" "" "1" "" "01713" "{PMID:Dénes:25494863}" "" "" "" "" "" "0" "" "" "" "" "00092277" "" "" "" "1" "" "01713" "{PMID:Boikos:4929866}" "Carney triad = paragangliomas/pheochromocytomas, gastrointestinal stromal tumors and pulmonary chondromas" "M" "?" "United States" "" "0" "" "" "" "" "00092278" "" "" "" "1" "" "01713" "{PMID:Boikos:4929866}" "Carney triad, the association of paragangliomas/pheochromocytomas, gastrointestinal stromal tumors and pulmonary chondromas" "F" "?" "United States" "" "0" "" "" "" "" "00219174" "" "" "" "3" "" "02588" "{PMID:Zhang 2018:30276801}" "3-generation family, proband, affected younger brother (41y) and niece (17y), mother (38y) died from sudden cardiac death" "F;M" "?" "China" "" "0" "" "" "" "Proband-Fam" "00264003" "" "" "" "1" "" "00727" "" "" "M" "" "" "" "0" "" "" "" "" "00264004" "" "" "" "1" "" "00727" "" "" "F" "" "" "" "0" "" "" "" "" "00289278" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00293835" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293836" "" "" "" "11" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00301091" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00320297" "" "" "" "1" "" "00006" "{PMID:Isbister 2020:32931854}" "" "" "" "Australia" "" "0" "" "" "" "BLB1" "00374846" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "R-0564" "00376435" "" "" "" "1" "" "00006" "{PMID:Nguyen 2021:34011823}" "" "" "" "Viet Nam" "" "0" "" "" "" "Pat215" "00396837" "" "" "" "1" "" "00006" "{PMID:Kim 2021:33219105}" "" "" "" "Korea" "" "0" "" "" "" "" "00410573" "" "" "" "1" "" "00006" "{PMID:Schuermans 2022:35606766}" "analysis 329 adult patients suffering from undiagnosed rare disease" "M" "" "Belgium" "" "0" "" "" "" "Pat35" "00430355" "" "" "" "1" "" "01082" "" "" "F" "?" "Brazil" "" "" "" "" "" "MINAS_17" "00436397" "" "" "" "1" "" "03628" "" "" "M" "no" "Hungary" "" "" "" "" "" "" "00446840" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat139" "00446841" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat140" "00446866" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat175" "00449554" "" "" "" "1" "" "00006" "{PMID:Pan 2024:38479391}, {DOI:Pan 2024:10.1016/j.ajhg.2024.02.007}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat14" "00461278" "" "" "" "1" "" "00006" "{PMID:Zheng 2024:39423307}" "" "M" "" "China" "" "0" "" "" "" "F130P138II-1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 77 "{{individualid}}" "{{diseaseid}}" "00036998" "00198" "00037000" "00198" "00072357" "00038" "00072358" "00038" "00072359" "04293" "00072360" "00038" "00072361" "00038" "00072963" "05085" "00072964" "00198" "00072965" "00198" "00072966" "00198" "00072967" "00198" "00072985" "04172" "00073069" "05085" "00073070" "05085" "00073071" "05093" "00073072" "05093" "00073073" "00038" "00073084" "05093" "00073085" "05093" "00073086" "05093" "00073096" "00038" "00073097" "00038" "00073099" "00038" "00079373" "00198" "00079375" "05093" "00079376" "05093" "00079377" "05093" "00079391" "05085" "00079392" "05085" "00079393" "00198" "00079401" "00198" "00079420" "00211" "00079421" "05085" "00079422" "05093" "00079427" "05093" "00079428" "05093" "00079429" "05093" "00079430" "05093" "00079431" "05093" "00079433" "05093" "00079434" "05093" "00079441" "05085" "00079442" "05085" "00079443" "05085" "00079444" "05085" "00079447" "05085" "00079451" "05085" "00079453" "05085" "00079454" "05085" "00079455" "05085" "00079456" "05085" "00079457" "05085" "00079464" "05085" "00079465" "05085" "00079466" "05085" "00092277" "00999" "00092278" "00999" "00219174" "00352" "00264003" "04296" "00264004" "04296" "00289278" "00198" "00293835" "00198" "00293836" "00198" "00301091" "00198" "00320297" "04172" "00374846" "00198" "00376435" "00352" "00396837" "00198" "00410573" "00198" "00430355" "04296" "00436397" "05093" "00446840" "04173" "00446841" "04173" "00446866" "04173" "00449554" "05611" "00461278" "04293" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00038, 00139, 00198, 00211, 00352, 00606, 00607, 00608, 00999, 04172, 04173, 04293, 04296, 05085, 05093, 05611 ## Count = 75 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Hearing/Problems}}" "{{Phenotype/Vision/Problems}}" "{{Phenotype/Development/Motor_skills}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/MRI/brain}}" "{{Phenotype/Cancer/Sub_type}}" "{{Phenotype/Eye/OCT}}" "{{Phenotype/Vision/Field}}" "{{Phenotype/Vision/Acuity}}" "{{Phenotype/Vision/Optic_nerve/Hypoplasia}}" "{{Phenotype/Vision/Colour}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Habits}}" "{{Phenotype/Diagnosis/Criteria}}" "0000052027" "00038" "00072357" "01646" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052028" "00038" "00072358" "01713" "Familial, autosomal recessive" "" "Epilepsy, psychomotor retardation, and tetraspasticity." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052029" "04293" "00072359" "01646" "Familial, autosomal dominant" "" "Ataxia, Myopathy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052030" "00038" "00072360" "01646" "Familial, autosomal recessive" "" "Leukodystrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052031" "00038" "00072361" "01646" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052654" "05085" "00072963" "01713" "Unknown" "" "First SDHA-associated paraganglioma" "" "" "" "" "" "" "" "" "" "" "" "" "" "PGL-EA" "" "" "" "" "" "" "" "" "" "0000052655" "00198" "00072964" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052656" "00198" "00072965" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052657" "00198" "00072966" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052658" "00198" "00072967" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052676" "04172" "00072985" "01713" "Unknown" "" "familial neonatal isolated cardiomyopathy; 15 Bedouin patients with familial neonatal isolated cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052761" "05085" "00073069" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PCC;PGL" "" "" "" "" "" "" "" "" "" "0000052762" "05085" "00073070" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PCC;PGL" "" "" "" "" "" "" "" "" "" "0000052763" "05093" "00073071" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "GIST" "" "" "" "" "" "" "" "" "" "0000052764" "05093" "00073072" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "GIST" "" "" "" "" "" "" "" "" "" "0000052765" "00038" "00073073" "01713" "Unknown" "" "death in infancy – respiratory infection and severe hypoglycemia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052776" "05093" "00073084" "01713" "Unknown" "" "Pediatric-type GIST." "" "" "" "" "" "" "" "" "" "" "" "" "" "GIST" "" "" "" "" "" "" "" "" "" "0000052777" "05093" "00073085" "01713" "Unknown" "" "Pediatric-type GIST." "" "" "" "" "" "" "" "" "" "" "" "" "" "GIST" "" "" "" "" "" "" "" "" "" "0000052778" "05093" "00073086" "01713" "Unknown" "" "Pediatric-type GIST." "" "" "" "" "" "" "" "" "" "" "" "" "" "GIST" "" "" "" "" "" "" "" "" "" "0000052788" "00038" "00073096" "01662" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052789" "00038" "00073097" "01662" "Unknown" "" "no basal ganglia involvement" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052791" "00038" "00073099" "01662" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059094" "00198" "00079373" "01713" "Unknown" "" "Cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059096" "05093" "00079375" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059097" "05093" "00079376" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059098" "05093" "00079377" "01713" "Unknown" "" "Pheo;PGL" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059113" "05085" "00079391" "01713" "Unknown" "" "Hemangiopericytoma/PGL" "" "" "" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "" "" "" "" "" "" "0000059114" "05085" "00079392" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "" "" "" "" "" "" "0000059115" "00198" "00079393" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059123" "00198" "00079401" "01713" "Unknown" "" "Unilateral Pheo" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059143" "00211" "00079420" "01713" "Unknown" "" "primary bladder PGL" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059144" "05085" "00079421" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PGL-B" "" "" "" "" "" "" "" "" "" "0000059145" "05093" "00079422" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059151" "05093" "00079427" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059152" "05093" "00079428" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059153" "05093" "00079429" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059154" "05093" "00079430" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059155" "05093" "00079431" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059157" "05093" "00079433" "01713" "Unknown" "18y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059158" "05093" "00079434" "01713" "Unknown" "" "Metastatic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059165" "05085" "00079441" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "" "" "" "" "" "" "0000059166" "05085" "00079442" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "" "" "" "" "" "" "0000059167" "05085" "00079443" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "" "" "" "" "" "" "0000059168" "05085" "00079444" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "" "" "" "" "" "" "0000059171" "05085" "00079447" "01713" "Unknown" "" "Pheo;PGL" "" "" "" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "" "" "" "" "" "" "0000059175" "05085" "00079451" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PGL;PGL-HN" "" "" "" "" "" "" "" "" "" "0000059177" "05085" "00079453" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "" "" "" "" "" "" "0000059178" "05085" "00079454" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "" "" "" "" "" "" "0000059179" "05085" "00079455" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "" "" "" "" "" "" "0000059180" "05085" "00079456" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "" "" "" "" "" "" "0000059181" "05085" "00079457" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "" "" "" "" "" "" "0000059188" "05085" "00079464" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "" "" "" "" "" "" "0000059189" "05085" "00079465" "01713" "Unknown" "" "Pheo;PGL" "" "" "" "" "" "" "" "" "" "" "" "" "" "PCC" "" "" "" "" "" "" "" "" "" "0000059190" "05085" "00079466" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PCC;PGL" "" "" "" "" "" "" "" "" "" "0000070616" "00999" "00092277" "01713" "Unknown" "" "Carney triad, the association of paragangliomas/pheochromocytomas, gastrointestinal stromal tumors and pulmonary chondromas" "" "" "" "" "" "21" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070617" "00999" "00092278" "01713" "Unknown" "" "Carney triad, the association of paragangliomas/pheochromocytomas, gastrointestinal stromal tumors and pulmonary chondromas" "" "" "" "" "" "23" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000156784" "00198" "00036998" "01164" "Unknown" "" "normal birth and psychomotor development, abnormal motor function in the left arm at age 15 month, bilateral calcifications in basal ganglia in CT of brain" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "muscle weakness" "" "" "0000156785" "00198" "00037000" "01164" "Unknown" "" "pronounced hypotonia, motor developmental delay, failure to thrive, MRI: hypomyelination, muscle biopsy: complex 2 deficiency; child of healthy non consanguineous parents: other patient: suspected familiar tumour disease, GIST at the age of 38" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "hypotonia" "" "" "0000167720" "00352" "00219174" "02588" "Unknown" "43y" "Left atrial enlargement (HP:0031295), abnormal left ventricle morphology (HP:0001711), syncope (HP:0001279)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000201861" "04296" "00264003" "00727" "Unknown" "" "GIST (gastric), 66y (Loss of SDHB immunostaining and LOH SDHA); Breast ductal carcinoma in situ, 70y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000201862" "04296" "00264004" "00727" "Unknown" "" "GIST (gastric), 34y (Loss of SDHB immunostaining and LOH SDHA)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000222909" "00198" "00289278" "01164" "Unknown" "" "Paraganglioma (HP:0002668); Abnormality of the skin (HP:0000951)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000228396" "00198" "00301091" "01164" "Unknown" "" "Multifocal breast carcinoma (HP:0006625)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242325" "04172" "00320297" "00006" "Unknown" "" "survived sudden cardiac arrest" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "" "0000270056" "00198" "00374846" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "myopathy" "" "" "0000271643" "00352" "00376435" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "" "0000289995" "00198" "00396837" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "pheochromocytoma/paraganglioma" "" "" "0000302676" "00198" "00410573" "00006" "Familial, autosomal dominant" "" "see paper; ..., onset adolescence, pheochromocytoma, family history" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PGL5" "" "" "" "0000321157" "04296" "00430355" "01082" "Familial, autosomal dominant" "" "Gastrointestinal Stromal Tumor (HP:0100723)" "" "" "" "" "" "31y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000326577" "05093" "00436397" "03628" "Unknown" "" "adrenocortical cancer" "" "" "" "" "" "33y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000336044" "04173" "00446840" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" "" "" "0000336045" "04173" "00446841" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" "" "0000336070" "04173" "00446866" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" "" "" "0000338728" "05611" "00449554" "00006" "Isolated (sporadic)" "9y" "see paper; ..., C-section due to maternal hypertension and failure to progress, maternal diabetes; developmental delay and/or intellectual disability; delayed speech, delayed language; no autism; attention deficit hyperactivity disorder; hypotonia; no seizure; brain MRI/CT normal; no cardiovascular anoalies; undescended testes; no gastrointestinal anomalies; no dysmorphic features; neonatal thrombocytopenia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "developmental delay, intellectual disability, dysmorphic features" "" "" "0000348778" "04293" "00461278" "00006" "Familial, autosomal recessive" "6y" "see paper; ..., congenital onset; best corrected visual acuity (first visit) OD 0.05/OS finger count; fundus oculi (first visit) OD diffuse pale optic disc/OS diffuse pale optic disc;" "6y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 78 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000037068" "00036998" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037069" "00036999" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037070" "00037000" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000072514" "00072357" "1" "01646" "01646" "2005-01-24 13:42:25" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000072515" "00072358" "1" "01713" "01713" "2006-03-24 09:57:16" "00008" "2016-08-10 18:54:29" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000072516" "00072359" "1" "01646" "01646" "2005-01-24 14:55:25" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000072517" "00072360" "1" "01646" "01646" "2005-01-24 15:03:01" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000072518" "00072361" "1" "01646" "01646" "2005-01-24 17:07:39" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000073120" "00072963" "1" "01713" "01713" "2010-05-25 09:44:38" "" "" "SEQ" "DNA" "" "" "0000073121" "00072964" "1" "01713" "01713" "2010-05-25 10:42:25" "" "" "SEQ" "DNA" "" "" "0000073122" "00072965" "1" "01713" "01713" "2010-05-25 10:45:59" "" "" "SEQ" "DNA" "" "" "0000073123" "00072966" "1" "01713" "01713" "2010-05-25 10:50:00" "" "" "SEQ" "DNA" "" "" "0000073124" "00072967" "1" "01713" "01713" "2010-05-25 10:52:07" "" "" "SEQ" "DNA" "" "" "0000073142" "00072985" "1" "01713" "01713" "2010-08-19 15:48:40" "" "" "SEQ" "DNA" "" "" "0000073226" "00073069" "1" "01713" "01713" "2011-12-13 11:36:09" "" "" "SEQ" "DNA" "" "" "0000073227" "00073070" "1" "01713" "01713" "2011-12-13 11:43:06" "" "" "SEQ" "DNA" "" "" "0000073228" "00073071" "1" "01713" "01713" "2011-12-13 12:06:37" "" "" "SEQ" "DNA" "" "" "0000073229" "00073072" "1" "01713" "01713" "2011-12-13 12:26:19" "" "" "SEQ" "DNA" "" "" "0000073230" "00073073" "1" "01713" "01713" "2011-12-13 12:39:42" "" "" "SEQ" "DNA" "" "" "0000073241" "00073084" "1" "01713" "01713" "2012-03-22 14:33:54" "" "" "SEQ" "DNA" "" "" "0000073242" "00073085" "1" "01713" "01713" "2012-03-22 14:37:15" "" "" "SEQ" "DNA" "" "" "0000073243" "00073086" "1" "01713" "01713" "2012-03-22 14:40:34" "" "" "SEQ" "DNA" "" "" "0000073253" "00073096" "1" "01662" "01662" "2013-08-19 17:03:57" "" "" "DSCA;RT-PCR;SEQ" "DNA;RNA" "" "" "0000073254" "00073097" "1" "01662" "01662" "2013-08-19 17:08:58" "" "" "DSCA;RT-PCR;SEQ" "DNA;RNA" "" "" "0000073256" "00073099" "1" "01662" "01662" "2014-03-13 12:33:18" "" "" "DSCA;RT-PCR;SEQ" "DNA;RNA" "" "" "0000079446" "00079373" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079448" "00079375" "1" "01713" "00008" "2016-08-12 13:58:20" "00006" "2020-09-25 09:10:11" "SEQms" "DNA" "" "bisulfite sequencing" "0000079449" "00079376" "1" "01713" "00008" "2016-08-12 13:58:20" "00006" "2020-09-25 09:10:11" "SEQms" "DNA" "" "bisulfite sequencing" "0000079450" "00079377" "1" "01713" "00008" "2016-08-12 13:58:20" "00006" "2020-09-25 09:10:11" "SEQms" "DNA" "" "bisulfite sequencing" "0000079464" "00079391" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079465" "00079392" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079466" "00079393" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079474" "00079401" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079493" "00079420" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079494" "00079421" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079495" "00079422" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079500" "00079427" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079501" "00079428" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079502" "00079429" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079503" "00079430" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079504" "00079431" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079506" "00079433" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079507" "00079434" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079514" "00079441" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ-NG" "DNA" "" "" "0000079515" "00079442" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ-NG" "DNA" "" "" "0000079516" "00079443" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ-NG" "DNA" "" "" "0000079517" "00079444" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ-NG" "DNA" "" "" "0000079520" "00079447" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ-NG" "DNA" "" "" "0000079524" "00079451" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ-NG" "DNA" "" "" "0000079526" "00079453" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ-NG" "DNA" "" "" "0000079527" "00079454" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ-NG" "DNA" "" "" "0000079528" "00079455" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ-NG" "DNA" "" "" "0000079529" "00079456" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ-NG" "DNA" "" "" "0000079530" "00079457" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ-NG" "DNA" "" "" "0000079537" "00079464" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ-NG" "DNA" "" "" "0000079538" "00079465" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ-NG" "DNA" "" "" "0000079539" "00079466" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000092417" "00092277" "1" "01713" "01713" "2016-12-17 15:26:03" "" "" "SEQ" "DNA" "" "" "0000092418" "00092278" "1" "01713" "01713" "2016-12-17 15:32:57" "" "" "SEQ" "DNA" "" "" "0000220247" "00219174" "1" "02588" "02588" "2019-02-07 10:31:53" "" "" "SEQ" "DNA" "blood" "" "0000265134" "00264004" "1" "00727" "00727" "2019-09-05 18:15:20" "" "" "SEQ-NG-I" "DNA" "" "" "0000265137" "00264003" "1" "00727" "00727" "2019-09-05 18:21:44" "" "" "SEQ-NG-I" "DNA" "" "" "0000290448" "00289278" "1" "01164" "01164" "2020-03-02 12:26:05" "" "" "SEQ-NG-S" "DNA" "" "" "0000295003" "00293835" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295004" "00293836" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000302213" "00301091" "1" "01164" "01164" "2020-05-07 10:07:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000321483" "00320297" "1" "00006" "00006" "2020-11-27 09:16:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000376040" "00374846" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000377640" "00376435" "1" "00006" "00006" "2021-06-22 13:15:11" "" "" "SEQ-NG" "DNA" "" "58-gene panel" "0000398078" "00396837" "1" "00006" "00006" "2021-12-17 15:43:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000411838" "00410573" "1" "00006" "00006" "2022-05-29 10:39:10" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000431770" "00430355" "1" "01082" "01082" "2023-01-18 18:25:55" "" "" "SEQ-NG" "DNA" "" "" "0000437879" "00436397" "1" "03628" "03628" "2023-09-10 14:52:41" "" "" "SEQ;SEQ-NG-I" "DNA" "PBMC" "Illumina Hereditary cancer panel incl 113 tumor susceptibility genes" "0000448415" "00446840" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448416" "00446841" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448441" "00446866" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451144" "00449554" "1" "00006" "00006" "2024-04-22 10:35:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000462910" "00461278" "1" "00006" "00006" "2025-01-31 10:20:27" "" "" "SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 66 "{{screeningid}}" "{{geneid}}" "0000037068" "SDHA" "0000037069" "SDHA" "0000037070" "SDHA" "0000072514" "SDHA" "0000072515" "SDHA" "0000072516" "SDHA" "0000072517" "SDHA" "0000072518" "SDHA" "0000073120" "SDHA" "0000073121" "SDHA" "0000073122" "SDHA" "0000073123" "SDHA" "0000073124" "SDHA" "0000073142" "SDHA" "0000073226" "SDHA" "0000073227" "SDHA" "0000073228" "SDHA" "0000073229" "SDHA" "0000073230" "SDHA" "0000073241" "SDHA" "0000073242" "SDHA" "0000073243" "SDHA" "0000073253" "SDHA" "0000073254" "SDHA" "0000073256" "SDHA" "0000079446" "SDHA" "0000079448" "SDHA" "0000079449" "SDHA" "0000079450" "SDHA" "0000079464" "SDHA" "0000079465" "SDHA" "0000079466" "SDHA" "0000079474" "SDHA" "0000079493" "SDHA" "0000079494" "SDHA" "0000079495" "SDHA" "0000079500" "SDHA" "0000079501" "SDHA" "0000079502" "SDHA" "0000079503" "SDHA" "0000079504" "SDHA" "0000079506" "SDHA" "0000079507" "SDHA" "0000079514" "SDHA" "0000079515" "SDHA" "0000079516" "SDHA" "0000079517" "SDHA" "0000079520" "SDHA" "0000079524" "SDHA" "0000079526" "SDHA" "0000079527" "SDHA" "0000079528" "SDHA" "0000079529" "SDHA" "0000079530" "SDHA" "0000079537" "SDHA" "0000079538" "SDHA" "0000079539" "SDHA" "0000092417" "SDHA" "0000092418" "SDHA" "0000220247" "SYNM" "0000265134" "SDHA" "0000265137" "SDHA" "0000321483" "SDHA" "0000376040" "SDHA" "0000377640" "SDHA" "0000398078" "SDHA" ## 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 = 359 "{{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}}" "0000064193" "1" "50" "5" "254747" "254747" "subst" "0" "01164" "SDHA_000025" "g.254747C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.254632C>T" "" "VUS" "" "0000064194" "1" "50" "5" "236616" "236616" "subst" "4.066E-6" "01164" "SDHA_000023" "g.236616C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.236501C>T" "" "VUS" "" "0000064195" "1" "50" "5" "236696" "236696" "subst" "0" "01164" "SDHA_000024" "g.236696G>A" "" "" "" "" "" "Germline" "" "rs143798161" "0" "" "" "g.236581G>A" "" "VUS" "" "0000116372" "10" "95" "5" "223595" "223595" "subst" "0" "01662" "SDHA_000022" "g.223595A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.223480A>G" "" "pathogenic" "" "0000116373" "20" "95" "5" "223595" "223595" "subst" "0" "01662" "SDHA_000022" "g.223595A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.223480A>G" "" "pathogenic" "" "0000116374" "10" "95" "5" "235256" "235256" "subst" "0" "01662" "SDHA_000021" "g.235256C>A" "" "" "" "" "(exon 9 skipping)" "Unknown" "" "" "0" "" "" "g.235141C>A" "" "pathogenic" "" "0000116375" "20" "95" "5" "235256" "235256" "subst" "0" "01662" "SDHA_000021" "g.235256C>A" "" "" "" "" "(exon 9 skipping)" "Unknown" "" "" "0" "" "" "g.235141C>A" "" "pathogenic" "" "0000116376" "1" "55" "5" "218471" "218471" "subst" "0" "01646" "SDHA_000001" "g.218471A>C" "" "{PMID:Parfait:10746566}" "+ BslI, -NlaIII" "A25 C" "" "Germline" "" "" "0" "" "" "g.218356A>C" "" "VUS" "" "0000116377" "0" "77" "5" "223624" "223624" "subst" "0.000195152" "01713" "SDHA_000013" "g.223624C>T" "0.3%" "{PMID:Korpershoek:21752896}, {PMID:Pantaleo:21505157}" "" "" "relatively common mutation -prob. v. low penetrance" "Germline" "" "" "0" "" "" "g.223509C>T" "" "likely pathogenic" "" "0000116378" "0" "77" "5" "223624" "223624" "subst" "0.000195152" "01713" "SDHA_000013" "g.223624C>T" "" "{PMID:Pantaleo:21505157}" "" "" "" "Somatic" "" "" "0" "" "" "g.223509C>T" "" "likely pathogenic" "" "0000116379" "21" "55" "5" "223624" "223624" "subst" "0.000195152" "01662" "SDHA_000013" "g.223624C>T" "0.3%" "" "" "" "relatively common mutation -prob. v. low penetrance" "Unknown" "" "" "0" "" "" "g.223509C>T" "" "VUS" "" "0000116380" "0" "11" "5" "223646" "223646" "subst" "0.0352978" "01713" "SDHA_000009" "g.223646A>T" "6.5%" "{PMID: Bonache:17298551}" "" "p.D38V" "" "Germline" "" "" "0" "" "" "g.223531A>T" "" "benign" "" "0000116381" "1" "55" "5" "224572" "224572" "subst" "0" "01713" "SDHA_000006" "g.224572C>T" "" "{PMID:Horvath:16361598}" "" "A83V" "" "Germline" "" "" "0" "" "" "g.224457C>T" "" "VUS" "" "0000116382" "21" "95" "5" "224572" "224572" "subst" "0" "01662" "SDHA_000006" "g.224572C>T" "" "" "" "A83V" "" "Unknown" "" "" "0" "" "" "g.224457C>T" "" "pathogenic" "" "0000116383" "2" "55" "5" "225577" "225577" "subst" "0" "01713" "SDHA_000007" "g.225577G>A" "" "{PMID:Horvath:16361598}" "" "W119X" "" "Unknown" "" "" "0" "" "" "g.225462G>A" "" "VUS" "" "0000116384" "11" "95" "5" "225577" "225577" "subst" "0" "01662" "SDHA_000007" "g.225577G>A" "" "" "" "W119X" "" "Unknown" "" "" "0" "" "" "g.225462G>A" "" "pathogenic" "" "0000116385" "0" "77" "5" "226052" "226052" "subst" "8.1213E-6" "01713" "SDHA_000017" "g.226052C>T" "" "{PMID:Pantaleo:21997697}" "" "R171C" "(Somatic mutation?)" "Somatic" "" "" "0" "" "" "g.225937C>T" "" "likely pathogenic" "" "0000116386" "11" "95" "5" "226106" "226106" "subst" "0" "01662" "SDHA_000020" "g.226106T>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.225991T>G" "" "pathogenic" "" "0000116387" "0" "55" "5" "235449" "235449" "subst" "0" "01713" "SDHA_000018" "g.235449G>A" "" "{PMID:Pantaleo:21997697}" "" "G419R" "(Somatic mutation?)" "Somatic" "" "" "0" "" "" "g.235334G>A" "" "VUS" "" "0000116388" "0" "77" "5" "235345" "235345" "subst" "8.12777E-6" "01713" "SDHA_000015" "g.235345C>G" "" "{PMID:Pantaleo:21505157}" "" "" "" "Germline" "" "" "0" "" "" "g.235230C>G" "" "likely pathogenic" "" "0000116389" "1" "55" "5" "236633" "236633" "subst" "0" "01646" "SDHA_000002" "g.236633C>T" "" "{PMID:Birch-Machin:10976639}" "-BslI" "C-to-T transition at nucleotide 1373; Arg408Cys in mature protein" "" "Unknown" "" "" "0" "" "" "g.236518C>T" "" "VUS" "" "0000116390" "2" "55" "5" "251126" "251126" "subst" "0" "01646" "SDHA_000003" "g.251126C>T" "" "{PMID:Parfait:10746566}" "-Fnu4 HI" "C1595 T; A524 V" "" "Unknown" "" "" "0" "" "" "g.251011C>T" "" "VUS" "" "0000116391" "10" "55" "5" "251215" "251215" "subst" "3.65979E-5" "01646" "SDHA_000004" "g.251215C>T" "" "{PMID:Bourgeron:7550341 }" "-BslI, +BsrI" "C>T transition at nucleotide 1684" "" "Germline" "" "" "0" "" "" "g.251100C>T" "" "VUS" "" "0000116392" "20" "55" "5" "251215" "251215" "subst" "3.65979E-5" "01646" "SDHA_000004" "g.251215C>T" "" "{PMID:Bourgeron:7550341 }" "-BslI, +BsrI" "C>T transition at nucleotide 1684" "" "Unknown" "" "" "0" "" "" "g.251100C>T" "" "VUS" "" "0000116393" "10" "55" "5" "251453" "251453" "subst" "4.13507E-6" "01646" "SDHA_000005" "g.251453G>A" "" "{PMID:Pagnamenta:16798039}" "-BsaJI" "" "" "Germline" "" "" "0" "" "" "g.251338G>A" "" "VUS" "" "0000116394" "20" "55" "5" "251453" "251453" "subst" "4.13507E-6" "01646" "SDHA_000005" "g.251453G>A" "" "{PMID:Pagnamenta:16798039}" "-BsaJI" "" "" "Unknown" "" "" "0" "" "" "g.251338G>A" "" "VUS" "" "0000116395" "0" "99" "5" "251453" "251453" "subst" "4.13507E-6" "01713" "SDHA_000005" "g.251453G>A" "" "{PMID: Levitas:20551992}" "-BsaJI" "" "" "Germline" "" "" "0" "" "" "g.251338G>A" "" "pathogenic" "" "0000116396" "3" "55" "5" "251453" "251453" "subst" "4.13507E-6" "01713" "SDHA_000005" "g.251453G>A" "" "{PMID:van Coster:12794685}" "" "" "" "Germline" "" "" "0" "" "" "g.251338G>A" "" "VUS" "" "0000116397" "0" "55" "5" "251479" "251479" "subst" "0" "01713" "SDHA_000019" "g.251479G>A" "" "{PMID:Pantaleo:21997697}" "" "E564K" "(Somatic mutation?)" "Somatic" "" "" "0" "" "" "g.251364G>A" "" "VUS" "" "0000116398" "0" "77" "5" "251542" "251542" "subst" "2.03472E-5" "01713" "SDHA_000014" "g.251542C>T" "0/3510 (EVS)" "{PMID:Korpershoek:21752896}" "" "" "found in one healthy control - common mutation, low penetrance? Absent in EVS EA population." "Germline" "" "" "0" "" "" "g.251427C>T" "" "likely pathogenic" "" "0000116399" "0" "99" "5" "251554" "251554" "subst" "1.22033E-5" "01713" "SDHA_000008" "g.251554C>T" "" "{PMID: Burnichon:20484225}" "" "" "First SDHA variant associated with paraganglioma" "Germline" "" "" "0" "" "" "g.251439C>T" "" "pathogenic" "" "0000116400" "0" "77" "5" "251554" "251554" "subst" "1.22033E-5" "01713" "SDHA_000016" "g.251554C>T" "" "{PMID:Pantaleo:21505157}" "" "" "(Somatic mutation?)" "Somatic" "" "" "0" "" "" "g.251439C>T" "" "likely pathogenic" "" "0000116401" "0" "11" "5" "254599" "254599" "subst" "0.142136" "01713" "SDHA_000010" "g.254599A>T" "22%" "{PMID: Bonache:17298551}, {PMID: Baysal:17376234}" "" "p.Y629F" "" "Germline" "" "" "0" "" "" "g.254484A>T" "" "benign" "" "0000116402" "0" "11" "5" "256459" "256459" "subst" "0.000109778" "01713" "SDHA_000012" "g.256459A>G" "" "{PMID: Baysal:17376234}" "" "E640G" "" "Germline" "" "" "0" "" "" "g.256344A>G" "" "benign" "" "0000116403" "0" "11" "5" "256509" "256509" "subst" "0.130655" "01713" "SDHA_000011" "g.256509G>A" "22%" "{PMID: Bonache:17298551}, {PMID: Baysal:17376234}" "" "p.V657I" "" "Germline" "" "" "0" "" "" "g.256394G>A" "" "benign" "" "0000128197" "1" "50" "5" "223650" "223650" "del" "0" "01713" "SDHA_000060" "g.223650del" "" "{PMID:Ma:23849264}" "" "c.G117G/del in exon 2" "compound heterozygous in patient" "Unknown" "" "" "0" "" "" "g.223535del" "" "VUS" "" "0000128198" "1" "50" "5" "223669" "223669" "subst" "0.000292726" "01713" "SDHA_000054" "g.223669A>G" "" "{PMID:Rattenberry:23666964}" "" "c.[136A>G]; [=]" "VUS" "Unknown" "" "" "0" "" "" "g.223554A>G" "" "VUS" "" "0000128199" "1" "70" "5" "223624" "223624" "subst" "0.000195152" "01713" "SDHA_000013" "g.223624C>T" "" "{PMID:Rattenberry:23666964}" "" "c.[91C>T]; [=]" "" "Unknown" "" "" "0" "" "" "g.223509C>T" "" "likely pathogenic" "" "0000128200" "2" "50" "5" "224545" "224545" "dup" "0" "01713" "SDHA_000055" "g.224545dup" "" "{PMID:Ma:23849264}" "" "c.T220T/insT in exon 3" "compound heterozygous in patient" "Unknown" "" "" "0" "" "" "g.224430dup" "" "VUS" "" "0000128201" "1" "50" "5" "224547" "224547" "subst" "8.53797E-5" "01713" "SDHA_000056" "g.224547C>T" "" "{PMID:Welander:23750034}, {PMID:Welander:24694336}" "" "" "" "Unknown" "" "" "0" "" "" "g.224432C>T" "" "VUS" "" "0000128202" "1" "50" "5" "225615" "225615" "subst" "0" "01713" "SDHA_000057" "g.225615T>C" "" "{PMID:von Dobschuetz:25595276}" "" "" "Highly conserved nucleotide (phyloP: 0.96 (K5.2; 1.1)), Highly conserved amino acid, up to S. cerevisiae (considering 13 species)" "Unknown" "" "" "0" "" "" "g.225500T>C" "" "VUS" "" "0000128203" "1" "50" "5" "225996" "225998" "del" "0" "01713" "SDHA_000058" "g.225996_225998del" "" "{PMID:Belinsky:23109135}, {PMID:Pantaleo:23612575}" "" "c.457-3_457-1delCAG" "LOH" "Unknown" "" "" "0" "" "" "g.225881_225883del" "" "VUS" "" "0000128204" "1" "50" "5" "226025" "226025" "subst" "0" "01713" "SDHA_000059" "g.226025A>T" "" "{PMID:Mason:23797725}" "" "" "" "Somatic" "" "" "0" "" "" "g.225910A>T" "" "VUS" "" "0000128205" "1" "50" "5" "226052" "226052" "subst" "8.1213E-6" "01713" "SDHA_000017" "g.226052C>T" "" "{PMID:Pantaleo:23612575}" "" "" "" "Unknown" "" "" "0" "" "" "g.225937C>T" "" "VUS" "" "0000128206" "1" "50" "5" "226090" "226090" "subst" "0.00257445" "01713" "SDHA_000045" "g.226090C>T" "" "{PMID:Rattenberry:23666964}" "" "c.[549C>T]; [=]" "VUS" "Unknown" "" "" "0" "" "" "g.225975C>T" "" "VUS" "" "0000128207" "1" "50" "5" "226103" "226103" "subst" "4.06118E-6" "01713" "SDHA_000046" "g.226103C>T" "" "{PMID:Miettinen:23282968}" "" "" "" "Unknown" "" "" "0" "" "" "g.225988C>T" "" "VUS" "" "0000128208" "1" "50" "5" "228307" "228307" "subst" "2.84622E-5" "01713" "SDHA_000047" "g.228307G>A" "" "{PMID:Welander:24694336}" "" "" "" "Unknown" "" "" "0" "" "" "g.228192G>A" "" "VUS" "" "0000128209" "1" "50" "5" "228402" "228413" "del" "0" "01713" "SDHA_000048" "g.228402_228413del" "" "{PMID:Gill:24625421}" "" "c.725_736del" "Compound heterozygous" "Unknown" "" "" "0" "" "" "g.228287_228298del" "" "VUS" "" "0000128210" "1" "50" "5" "228445" "228445" "subst" "0" "01713" "SDHA_000049" "g.228445C>T" "" "{PMID:Miettinen:23282968}" "" "" "" "Unknown" "" "" "0" "" "" "g.228330C>T" "" "VUS" "" "0000128211" "1" "50" "5" "231038" "231038" "subst" "1.21888E-5" "01713" "SDHA_000050" "g.231038C>T" "" "{PMID:Belinsky:23109135}, {PMID:Miettinen:23282968}" "" "p.(Thr273Ile)" "" "Somatic" "" "" "0" "" "" "g.230923C>T" "" "VUS" "" "0000128212" "1" "50" "5" "231042" "231042" "subst" "0.00490873" "01713" "SDHA_000051" "g.231042C>T" "" "{PMID:Rattenberry:23666964}" "" "c.[822C>T];[=]" "VUS" "Unknown" "" "" "0" "" "" "g.230927C>T" "" "VUS" "" "0000128213" "1" "50" "5" "233698" "233698" "subst" "0.000840555" "01713" "SDHA_000027" "g.233698G>A" "" "{PMID:Rattenberry:23666964}" "" "c.[1002G>A];[=]" "VUS" "Unknown" "" "" "0" "" "" "g.233583G>A" "" "VUS" "" "0000128214" "1" "50" "5" "233742" "233743" "del" "4.06131E-6" "01713" "SDHA_000028" "g.233742_233743del" "" "{PMID:Pantaleo:23612575}" "" "" "" "Unknown" "" "" "0" "" "" "g.233627_233628del" "" "VUS" "" "0000128215" "1" "50" "5" "233619" "233619" "subst" "8.12117E-6" "01713" "SDHA_000052" "g.233619C>T" "" "{PMID:Rattenberry:23666964}" "" "c.[923C>T];[=]" "VUS" "Unknown" "" "" "0" "" "" "g.233504C>T" "" "VUS" "" "0000128216" "1" "50" "5" "233665" "233665" "subst" "0.00726839" "01713" "SDHA_000053" "g.233665C>T" "" "{PMID:Dénes:25494863}" "" "" "No LOH" "Unknown" "" "" "0" "" "" "g.233550C>T" "" "VUS" "" "0000128217" "2" "50" "5" "233684" "233685" "dup" "0" "01713" "SDHA_000026" "g.233684_233685dup" "" "{PMID:Gill:24625421}" "" "c.989_990insTA" "Compound heterozygous" "Unknown" "" "" "0" "" "" "g.233569_233570dup" "" "VUS" "" "0000128218" "1" "50" "5" "236555" "236555" "subst" "3.25436E-5" "01713" "SDHA_000029" "g.236555G>A" "" "{PMID:Rattenberry:23666964}" "" "c.[1273G>A];[=]" "VUS" "Unknown" "" "" "0" "" "" "g.236440G>A" "" "VUS" "" "0000128219" "1" "50" "5" "236616" "236616" "subst" "4.066E-6" "01713" "SDHA_000023" "g.236616C>T" "" "{PMID:Miettinen:23282968}" "" "" "Somatic" "Somatic" "" "" "0" "" "" "g.236501C>T" "" "VUS" "" "0000128220" "1" "50" "5" "236620" "236620" "del" "0" "01713" "SDHA_000030" "g.236620del" "" "{PMID:Rattenberry:23666964}" "" "c.[1338delA]; [=]" "VUS" "Unknown" "" "" "0" "" "" "g.236505del" "" "VUS" "" "0000128221" "1" "50" "5" "236622" "236622" "subst" "8.13147E-6" "01713" "SDHA_000031" "g.236622A>G" "" "{PMID:Mason:23797725}" "" "" "" "Unknown" "" "" "0" "" "" "g.236507A>G" "" "VUS" "" "0000128222" "1" "50" "5" "236639" "236639" "subst" "8.13134E-6" "01713" "SDHA_000032" "g.236639G>A" "" "{PMID:Belinsky:23109135}" "" "p.(Gly453Arg)" "" "Somatic" "" "" "0" "" "" "g.236524G>A" "" "VUS" "" "0000128223" "1" "50" "5" "236643" "236643" "subst" "0" "01713" "SDHA_000033" "g.236643C>A" "" "{PMID:Miettinen:23282968}" "" "" "Somatic" "Somatic" "" "" "0" "" "" "g.236528C>A" "" "VUS" "" "0000128224" "1" "50" "5" "240511" "240511" "subst" "4.07325E-6" "01713" "SDHA_000034" "g.240511G>T" "" "{PMID:Belinsky:23109135}" "" "" "LOH" "Unknown" "" "" "0" "" "" "g.240396G>T" "" "VUS" "" "0000128225" "1" "50" "5" "240563" "240563" "subst" "0.000602483" "01713" "SDHA_000035" "g.240563C>T" "" "{PMID:Alston:22972948}" "" "p.(Thr508Ile)" "" "Unknown" "" "" "0" "" "" "g.240448C>T" "" "VUS" "" "0000128226" "1" "50" "5" "240566" "240566" "subst" "0" "01713" "SDHA_000036" "g.240566C>T" "" "{PMID:Alston:22972948}" "" "p.(Ser509Leu)" "" "Unknown" "" "" "0" "" "" "g.240451C>T" "" "VUS" "" "0000128227" "1" "50" "5" "251178" "251178" "subst" "0.0022731" "01713" "SDHA_000037" "g.251178G>A" "" "{PMID:Rattenberry:23666964}" "" "c.[1623G>A];[=]" "VUS" "Unknown" "" "" "0" "" "" "g.251063G>A" "" "VUS" "" "0000128228" "1" "70" "5" "251542" "251542" "subst" "2.03472E-5" "01713" "SDHA_000014" "g.251542C>T" "" "{PMID:Rattenberry:23666964}" "" "c.[1753C>T];[=]" "" "Unknown" "" "" "0" "" "" "g.251427C>T" "" "likely pathogenic" "" "0000128229" "1" "50" "5" "251555" "251555" "subst" "0" "01713" "SDHA_000038" "g.251555G>A" "" "{PMID:Pantaleo:23612575}" "" "" "" "Unknown" "" "" "0" "" "" "g.251440G>A" "" "VUS" "" "0000128230" "1" "50" "5" "251565" "251565" "subst" "0.00310713" "01713" "SDHA_000039" "g.251565T>C" "" "{PMID:Rattenberry:23666964}" "" "c.[1776T>C];[=]" "VUS" "Unknown" "" "" "0" "" "" "g.251450T>C" "" "VUS" "" "0000128231" "1" "50" "5" "251583" "251583" "subst" "0" "01713" "SDHA_000040" "g.251583G>C" "" "{PMID:Miettinen:23282968}" "" "" "" "Unknown" "" "" "0" "" "" "g.251468G>C" "" "VUS" "" "0000128232" "1" "50" "5" "254507" "254507" "subst" "4.35044E-6" "01713" "SDHA_000041" "g.254507G>T" "" "{PMID:Miettinen:23282968}" "" "" "" "Unknown" "" "" "0" "" "" "g.254392G>T" "" "VUS" "" "0000128233" "1" "50" "5" "254512" "254512" "subst" "0" "01713" "SDHA_000042" "g.254512G>A" "" "{PMID:von Dobschuetz:25595276}" "" "" "Highly conserved nucleotide (phyloP: 0.91 (K5.2; 1.1)), Highly conserved amino acid, up to S. cerevisiae (considering 13 species)" "Unknown" "" "rs112656" "0" "" "" "g.254397G>A" "" "VUS" "" "0000128234" "1" "50" "5" "254578" "254578" "subst" "0" "01713" "SDHA_000043" "g.254578G>A" "" "{PMID:Dwight:23633203}" "" "c.1865G>A, p.Trp622*" "" "Unknown" "" "" "0" "" "" "g.254463G>A" "" "VUS" "" "0000128235" "1" "50" "5" "254586" "254586" "subst" "0" "01713" "SDHA_000044" "g.254586C>T" "" "{PMID:Dwight:23633203}" "" "c.1873C>T (p.His625Tyr)" "PolyPhen2: 1" "Unknown" "" "" "0" "" "" "g.254471C>T" "" "VUS" "" "0000150743" "0" "77" "5" "223624" "223624" "subst" "0.000195152" "01713" "SDHA_000013" "g.223624C>T" "" "{PMID:Boikos:4929866}" "" "" "SDHB IHC Neg, SDHA IHC Neg. Carney Triad" "Unknown" "?" "" "0" "" "" "g.223509C>T" "" "likely pathogenic" "" "0000150744" "0" "77" "5" "224619" "224619" "subst" "0" "01713" "SDHA_000061" "g.224619C>T" "" "" "" "" "SDHB IHC Neg, SDHA IHC Neg. Carney triad" "Unknown" "" "" "0" "" "" "g.224504C>T" "" "likely pathogenic" "" "0000248954" "0" "10" "5" "254599" "254599" "subst" "0.142136" "02325" "SDHA_000010" "g.254599A>T" "" "" "" "SDHA(NM_004168.4):c.1886A>T (p.Y629F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.254484A>T" "" "benign" "" "0000249067" "0" "10" "5" "230980" "230980" "subst" "0.877896" "02325" "SDHA_000083" "g.230980A>G" "" "" "" "SDHA(NM_004168.4):c.771-11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.230865A>G" "" "benign" "" "0000249692" "0" "90" "5" "223595" "223595" "subst" "0" "02325" "SDHA_000022" "g.223595A>G" "" "" "" "SDHA(NM_004168.4):c.64-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.223480A>G" "" "pathogenic" "" "0000251060" "0" "10" "5" "223646" "223646" "subst" "0.0352978" "02326" "SDHA_000009" "g.223646A>T" "" "" "" "SDHA(NM_001294332.1):c.113A>T (p.(Asp38Val)), SDHA(NM_004168.4):c.113A>T (p.D38V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.223531A>T" "" "benign" "" "0000251872" "0" "30" "5" "233651" "233651" "subst" "0.00015024" "02326" "SDHA_000085" "g.233651A>C" "" "" "" "SDHA(NM_001294332.1):c.811A>C (p.(Ile271Leu)), SDHA(NM_004168.4):c.955A>C (p.I319L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233536A>C" "" "likely benign" "" "0000256035" "0" "50" "5" "228417" "228417" "subst" "0.000130096" "01943" "SDHA_000081" "g.228417A>G" "" "" "" "SDHA(NM_004168.3):c.739A>G (p.I247V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228302A>G" "" "VUS" "" "0000298048" "0" "10" "5" "256548" "256548" "subst" "0" "02325" "SDHA_000107" "g.256548T>C" "" "" "" "SDHA(NM_004168.4):c.*13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.256433T>C" "" "benign" "" "0000298049" "0" "10" "5" "256549" "256549" "subst" "0" "02325" "SDHA_000108" "g.256549G>A" "" "" "" "SDHA(NM_004168.4):c.*14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.256434G>A" "" "benign" "" "0000298050" "0" "30" "5" "235466" "235466" "subst" "0" "02325" "SDHA_000088" "g.235466G>A" "" "" "" "SDHA(NM_004168.4):c.1260+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.235351G>A" "" "likely benign" "" "0000298051" "0" "30" "5" "236556" "236556" "subst" "0" "02325" "SDHA_000089" "g.236556T>G" "" "" "" "SDHA(NM_004168.4):c.1274T>G (p.V425G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236441T>G" "" "likely benign" "" "0000298052" "0" "10" "5" "236649" "236649" "subst" "0" "02325" "SDHA_000091" "g.236649C>T" "" "" "" "SDHA(NM_004168.4):c.1367C>T (p.(Ser456Leu), p.S456L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236534C>T" "" "benign" "" "0000298053" "0" "30" "5" "236650" "236650" "subst" "0.00141893" "02325" "SDHA_000092" "g.236650G>A" "" "" "" "SDHA(NM_001294332.1):c.1224G>A (p.(Ser408=)), SDHA(NM_004168.3):c.1368G>A (p.S456=), SDHA(NM_004168.4):c.1368G>A (p.S456=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236535G>A" "" "likely benign" "" "0000298054" "0" "10" "5" "236678" "236678" "subst" "0" "02325" "SDHA_000093" "g.236678G>A" "" "" "" "SDHA(NM_004168.2):c.1396G>A (p.(Ala466Thr)), SDHA(NM_004168.4):c.1396G>A (p.A466T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236563G>A" "" "benign" "" "0000298055" "0" "30" "5" "251178" "251178" "subst" "0.0022731" "02325" "SDHA_000037" "g.251178G>A" "" "" "" "SDHA(NM_004168.3):c.1623G>A (p.K541=), SDHA(NM_004168.4):c.1623G>A (p.K541=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.251063G>A" "" "likely benign" "" "0000298056" "0" "90" "5" "251215" "251215" "subst" "3.65979E-5" "02325" "SDHA_000004" "g.251215C>T" "" "" "" "SDHA(NM_004168.4):c.1660C>T (p.R554W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.251100C>T" "" "pathogenic" "" "0000298057" "0" "50" "5" "254512" "254512" "subst" "0" "02325" "SDHA_000042" "g.254512G>A" "" "" "" "SDHA(NM_004168.4):c.1799G>A (p.R600Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.254397G>A" "" "VUS" "" "0000298058" "0" "10" "5" "256437" "256438" "del" "0" "02325" "SDHA_000100" "g.256437_256438del" "" "" "" "SDHA(NM_001294332.1):c.1765-12_1765-11del (p.(=)), SDHA(NM_004168.4):c.1909-12_1909-11delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.256322_256323del" "" "benign" "" "0000298059" "0" "10" "5" "256451" "256451" "subst" "0.00469991" "02325" "SDHA_000101" "g.256451C>T" "" "" "" "SDHA(NM_004168.4):c.1911C>T (p.V637=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.256336C>T" "" "benign" "" "0000298060" "0" "10" "5" "256472" "256472" "subst" "0.1556" "02325" "SDHA_000102" "g.256472G>A" "" "" "" "SDHA(NM_004168.4):c.1932G>A (p.V644=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.256357G>A" "" "benign" "" "0000298061" "0" "30" "5" "256485" "256486" "del" "0" "02325" "SDHA_000104" "g.256485_256486del" "" "" "" "SDHA(NM_001294332.1):c.1801_1802del (p.(Leu601GlufsTer4)), SDHA(NM_004168.4):c.1945_1946delTT (p.L649Efs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.256370_256371del" "" "likely benign" "" "0000298062" "0" "30" "5" "256508" "256508" "subst" "4.06593E-6" "02325" "SDHA_000105" "g.256508C>T" "" "" "" "SDHA(NM_004168.4):c.1968C>T (p.T656=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.256393C>T" "" "likely benign" "" "0000298063" "0" "10" "5" "256514" "256514" "subst" "0.000239605" "02325" "SDHA_000106" "g.256514G>C" "" "" "" "SDHA(NM_001294332.1):c.1830G>C (p.(Pro610=)), SDHA(NM_004168.4):c.1974G>C (p.P658=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.256399G>C" "" "benign" "" "0000298064" "0" "50" "5" "224548" "224548" "subst" "1.2197E-5" "02325" "SDHA_000066" "g.224548G>A" "" "" "" "SDHA(NM_004168.4):c.224G>A (p.R75Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.224433G>A" "" "VUS" "" "0000298065" "0" "10" "5" "225518" "225518" "subst" "0" "02325" "SDHA_000071" "g.225518T>G" "" "" "" "SDHA(NM_004168.4):c.313-16T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.225403T>G" "" "benign" "" "0000298066" "0" "30" "5" "225515" "225515" "subst" "0.00208372" "02325" "SDHA_000070" "g.225515G>T" "" "" "" "SDHA(NM_001330758.1):c.313-19G>T (p.(=)), SDHA(NM_004168.4):c.313-19G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.225400G>T" "" "likely benign" "" "0000298067" "0" "30" "5" "225697" "225697" "subst" "0.00691521" "02325" "SDHA_000073" "g.225697G>C" "" "" "" "SDHA(NM_001330758.1):c.456+20G>C (p.(=)), SDHA(NM_004168.4):c.456+20G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.225582G>C" "" "likely benign" "" "0000298068" "0" "10" "5" "228287" "228287" "del" "0" "02325" "SDHA_000077" "g.228287del" "" "" "" "SDHA(NM_004168.4):c.622-13delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228172del" "" "benign" "" "0000298069" "0" "30" "5" "228292" "228292" "subst" "0.000101745" "02325" "SDHA_000078" "g.228292T>C" "" "" "" "SDHA(NM_004168.4):c.622-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228177T>C" "" "likely benign" "" "0000298070" "0" "30" "5" "228401" "228401" "subst" "0.000435012" "02325" "SDHA_000080" "g.228401C>T" "" "" "" "SDHA(NM_001294332.1):c.579C>T (p.(Asp193=)), SDHA(NM_004168.3):c.723C>T (p.D241=), SDHA(NM_004168.4):c.723C>T (p.D241=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228286C>T" "" "likely benign" "" "0000298071" "0" "10" "5" "231111" "231111" "subst" "0.701378" "02325" "SDHA_000084" "g.231111T>C" "" "" "" "SDHA(NM_004168.4):c.891T>C (p.P297=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.230996T>C" "" "benign" "" "0000298072" "0" "50" "5" "233687" "233687" "subst" "0.000170545" "02325" "SDHA_000086" "g.233687G>A" "" "" "" "SDHA(NM_004168.4):c.991G>A (p.A331T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233572G>A" "" "VUS" "" "0000299356" "0" "30" "5" "235268" "235268" "subst" "0" "02329" "SDHA_000087" "g.235268C>T" "" "" "" "SDHA(NM_004168.4):c.1074C>T (p.G358=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.235153C>T" "" "likely benign" "" "0000299357" "0" "10" "5" "236587" "236587" "subst" "0.0190148" "02329" "SDHA_000090" "g.236587G>T" "" "" "" "SDHA(NM_001294332.1):c.1161G>T (p.(Leu387=)), SDHA(NM_004168.4):c.1305G>T (p.L435=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236472G>T" "" "benign" "" "0000299358" "0" "30" "5" "223666" "223666" "subst" "0.000443154" "02329" "SDHA_000063" "g.223666G>A" "" "" "" "SDHA(NM_004168.3):c.133G>A (p.A45T), SDHA(NM_004168.4):c.133G>A (p.A45T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.223551G>A" "" "likely benign" "" "0000299359" "0" "30" "5" "236695" "236695" "subst" "0.00262642" "02329" "SDHA_000094" "g.236695C>T" "" "" "" "SDHA(NM_004168.4):c.1413C>T (p.I471=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236580C>T" "" "likely benign" "" "0000299360" "0" "30" "5" "236734" "236734" "subst" "0.000154081" "02329" "SDHA_000095" "g.236734G>C" "" "" "" "SDHA(NM_004168.4):c.1432+20G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236619G>C" "" "likely benign" "" "0000299361" "0" "70" "5" "223684" "223684" "subst" "1.21969E-5" "02329" "SDHA_000064" "g.223684G>A" "" "" "" "SDHA(NM_004168.4):c.150+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.223569G>A" "" "likely pathogenic" "" "0000299362" "0" "30" "5" "251166" "251166" "subst" "8.13266E-6" "02329" "SDHA_000097" "g.251166G>A" "" "" "" "SDHA(NM_004168.4):c.1611G>A (p.G537=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.251051G>A" "" "likely benign" "" "0000299363" "0" "30" "5" "251178" "251178" "subst" "0.0022731" "02329" "SDHA_000037" "g.251178G>A" "" "" "" "SDHA(NM_004168.3):c.1623G>A (p.K541=), SDHA(NM_004168.4):c.1623G>A (p.K541=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.251063G>A" "" "likely benign" "" "0000299364" "0" "10" "5" "251565" "251565" "subst" "0.00310713" "02329" "SDHA_000039" "g.251565T>C" "" "" "" "SDHA(NM_004168.4):c.1776T>C (p.H592=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.251450T>C" "" "benign" "" "0000299365" "0" "30" "5" "218487" "218487" "subst" "0.0013895" "02329" "SDHA_000062" "g.218487G>A" "" "" "" "SDHA(NM_004168.4):c.17G>A (p.G6D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218372G>A" "" "likely benign" "" "0000299366" "0" "10" "5" "256437" "256438" "del" "0" "02329" "SDHA_000099" "g.256437_256438del" "" "" "" "SDHA(NM_001294332.1):c.1765-12_1765-11del (p.(=)), SDHA(NM_004168.4):c.1909-12_1909-11delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.256322_256323del" "" "benign" "" "0000299367" "0" "30" "5" "256451" "256451" "subst" "0.00469991" "02329" "SDHA_000101" "g.256451C>T" "" "" "" "SDHA(NM_004168.4):c.1911C>T (p.V637=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.256336C>T" "" "likely benign" "" "0000299368" "0" "10" "5" "256485" "256486" "del" "0" "02329" "SDHA_000103" "g.256485_256486del" "" "" "" "SDHA(NM_001294332.1):c.1801_1802del (p.(Leu601GlufsTer4)), SDHA(NM_004168.4):c.1945_1946delTT (p.L649Efs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.256370_256371del" "" "benign" "" "0000299369" "0" "10" "5" "256514" "256514" "subst" "0.000239605" "02329" "SDHA_000106" "g.256514G>C" "" "" "" "SDHA(NM_001294332.1):c.1830G>C (p.(Pro610=)), SDHA(NM_004168.4):c.1974G>C (p.P658=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.256399G>C" "" "benign" "" "0000299370" "0" "30" "5" "225515" "225515" "subst" "0.00208372" "02329" "SDHA_000070" "g.225515G>T" "" "" "" "SDHA(NM_001330758.1):c.313-19G>T (p.(=)), SDHA(NM_004168.4):c.313-19G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.225400G>T" "" "likely benign" "" "0000299371" "0" "10" "5" "225697" "225697" "subst" "0.00691521" "02329" "SDHA_000073" "g.225697G>C" "" "" "" "SDHA(NM_001330758.1):c.456+20G>C (p.(=)), SDHA(NM_004168.4):c.456+20G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.225582G>C" "" "benign" "" "0000299372" "0" "10" "5" "226090" "226090" "subst" "0.00257445" "02329" "SDHA_000045" "g.226090C>T" "" "" "" "SDHA(NM_004168.3):c.549C>T (p.G183=), SDHA(NM_004168.4):c.549C>T (p.G183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.225975C>T" "" "benign" "" "0000299373" "0" "10" "5" "226091" "226091" "subst" "0.00151867" "02329" "SDHA_000074" "g.226091G>A" "" "" "" "SDHA(NM_004168.2):c.550G>A (p.(Gly184Arg)), SDHA(NM_004168.3):c.550G>A (p.G184R), SDHA(NM_004168.4):c.550G>A (p.G184R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.225976G>A" "" "benign" "" "0000299374" "0" "30" "5" "228401" "228401" "subst" "0.000435012" "02329" "SDHA_000080" "g.228401C>T" "" "" "" "SDHA(NM_001294332.1):c.579C>T (p.(Asp193=)), SDHA(NM_004168.3):c.723C>T (p.D241=), SDHA(NM_004168.4):c.723C>T (p.D241=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228286C>T" "" "likely benign" "" "0000299375" "0" "30" "5" "228467" "228471" "del" "0" "02329" "SDHA_000082" "g.228467_228471del" "" "" "" "SDHA(NM_004168.4):c.770+19_770+23delCTTTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228352_228356del" "" "likely benign" "" "0000299376" "0" "10" "5" "231042" "231042" "subst" "0.00490873" "02329" "SDHA_000051" "g.231042C>T" "" "" "" "SDHA(NM_004168.4):c.822C>T (p.G274=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.230927C>T" "" "benign" "" "0000299377" "0" "90" "5" "223624" "223624" "subst" "0.000195152" "02329" "SDHA_000013" "g.223624C>T" "" "" "" "SDHA(NM_001294332.1):c.91C>T (p.(Arg31Ter)), SDHA(NM_004168.3):c.91C>T (p.R31*), SDHA(NM_004168.4):c.91C>T (p.R31*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.223509C>T" "" "pathogenic" "" "0000299378" "0" "10" "5" "233665" "233665" "subst" "0.00726839" "02329" "SDHA_000053" "g.233665C>T" "" "" "" "SDHA(NM_001294332.1):c.825C>T (p.(Gly275=)), SDHA(NM_004168.4):c.969C>T (p.G323=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233550C>T" "" "benign" "" "0000301996" "0" "30" "5" "256624" "256624" "subst" "0" "02326" "SDHA_000109" "g.256624G>A" "" "" "" "SDHA(NM_004168.4):c.*89G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.256509G>A" "" "likely benign" "" "0000301997" "0" "30" "5" "236696" "236696" "subst" "0" "02326" "SDHA_000024" "g.236696G>A" "" "" "" "SDHA(NM_004168.4):c.1414G>A (p.E472K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236581G>A" "" "likely benign" "" "0000301998" "0" "10" "5" "251565" "251565" "subst" "0.00310713" "02326" "SDHA_000039" "g.251565T>C" "" "" "" "SDHA(NM_004168.4):c.1776T>C (p.H592=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.251450T>C" "" "benign" "" "0000301999" "0" "50" "5" "251566" "251566" "subst" "0" "02326" "SDHA_000098" "g.251566G>A" "" "" "" "SDHA(NM_004168.4):c.1777G>A (p.A593T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.251451G>A" "" "VUS" "" "0000302000" "0" "30" "5" "256437" "256438" "del" "0" "02326" "SDHA_000099" "g.256437_256438del" "" "" "" "SDHA(NM_001294332.1):c.1765-12_1765-11del (p.(=)), SDHA(NM_004168.4):c.1909-12_1909-11delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.256322_256323del" "" "likely benign" "" "0000302001" "0" "30" "5" "256485" "256486" "del" "0" "02326" "SDHA_000103" "g.256485_256486del" "" "" "" "SDHA(NM_001294332.1):c.1801_1802del (p.(Leu601GlufsTer4)), SDHA(NM_004168.4):c.1945_1946delTT (p.L649Efs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.256370_256371del" "" "likely benign" "" "0000302002" "0" "10" "5" "224656" "224656" "subst" "0" "02326" "SDHA_000069" "g.224656C>T" "" "" "" "SDHA(NM_001294332.1):c.312+20C>T (p.(=)), SDHA(NM_004168.4):c.312+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.224541C>T" "" "benign" "" "0000302003" "0" "30" "5" "228287" "228287" "del" "0" "02326" "SDHA_000076" "g.228287del" "" "" "" "SDHA(NM_004168.4):c.622-13delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228172del" "" "likely benign" "" "0000302004" "0" "30" "5" "228269" "228269" "subst" "0" "02326" "SDHA_000075" "g.228269C>T" "" "" "" "SDHA(NM_004168.4):c.622-31C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228154C>T" "" "likely benign" "" "0000307855" "0" "10" "5" "226090" "226090" "subst" "0.00257445" "01943" "SDHA_000045" "g.226090C>T" "" "" "" "SDHA(NM_004168.3):c.549C>T (p.G183=), SDHA(NM_004168.4):c.549C>T (p.G183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.225975C>T" "" "benign" "" "0000307856" "0" "30" "5" "228401" "228401" "subst" "0.000435012" "01943" "SDHA_000080" "g.228401C>T" "" "" "" "SDHA(NM_001294332.1):c.579C>T (p.(Asp193=)), SDHA(NM_004168.3):c.723C>T (p.D241=), SDHA(NM_004168.4):c.723C>T (p.D241=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228286C>T" "" "likely benign" "" "0000307857" "0" "90" "5" "223624" "223624" "subst" "0.000195152" "01943" "SDHA_000013" "g.223624C>T" "" "" "" "SDHA(NM_001294332.1):c.91C>T (p.(Arg31Ter)), SDHA(NM_004168.3):c.91C>T (p.R31*), SDHA(NM_004168.4):c.91C>T (p.R31*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.223509C>T" "" "pathogenic" "" "0000330232" "0" "50" "5" "224487" "224487" "subst" "0.00148396" "01804" "SDHA_000065" "g.224487T>C" "" "" "" "SDHA(NM_004168.2):c.163T>C (p.(Tyr55His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.224372T>C" "" "VUS" "" "0000330235" "0" "30" "5" "225683" "225683" "subst" "0.000240434" "01804" "SDHA_000072" "g.225683G>T" "" "" "" "SDHA(NM_004168.2):c.456+6G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.225568G>T" "" "likely benign" "" "0000330236" "0" "50" "5" "226091" "226091" "subst" "0.00151867" "01804" "SDHA_000074" "g.226091G>A" "" "" "" "SDHA(NM_004168.2):c.550G>A (p.(Gly184Arg)), SDHA(NM_004168.3):c.550G>A (p.G184R), SDHA(NM_004168.4):c.550G>A (p.G184R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.225976G>A" "" "VUS" "" "0000330240" "0" "30" "5" "256485" "256486" "del" "0" "01804" "SDHA_000103" "g.256485_256486del" "" "" "" "SDHA(NM_001294332.1):c.1801_1802del (p.(Leu601GlufsTer4)), SDHA(NM_004168.4):c.1945_1946delTT (p.L649Efs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.256370_256371del" "" "likely benign" "" "0000337510" "0" "30" "5" "218391" "218391" "subst" "0" "02327" "SDHA_000112" "g.218391C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218276C>T" "" "likely benign" "" "0000337511" "0" "30" "5" "218444" "218444" "subst" "0" "02327" "SDHA_000113" "g.218444C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218329C>G" "" "likely benign" "" "0000337512" "0" "30" "5" "218464" "218464" "subst" "0.000684007" "02327" "SDHA_000114" "g.218464A>C" "" "" "" "SDHA(NM_004168.4):c.-7A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218349A>C" "" "likely benign" "" "0000337513" "0" "10" "5" "218467" "218467" "subst" "0.00297202" "02327" "SDHA_000115" "g.218467A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218352A>G" "" "benign" "" "0000337532" "0" "30" "5" "225515" "225515" "subst" "0.00208372" "02327" "SDHA_000070" "g.225515G>T" "" "" "" "SDHA(NM_001330758.1):c.313-19G>T (p.(=)), SDHA(NM_004168.4):c.313-19G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.225400G>T" "" "likely benign" "" "0000337533" "0" "10" "5" "225697" "225697" "subst" "0.00691521" "02327" "SDHA_000073" "g.225697G>C" "" "" "" "SDHA(NM_001330758.1):c.456+20G>C (p.(=)), SDHA(NM_004168.4):c.456+20G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.225582G>C" "" "benign" "" "0000337554" "0" "10" "5" "230980" "230980" "subst" "0.877896" "02327" "SDHA_000083" "g.230980A>G" "" "" "" "SDHA(NM_004168.4):c.771-11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.230865A>G" "" "benign" "" "0000337595" "0" "30" "5" "240607" "240607" "subst" "0.00193552" "02327" "SDHA_000128" "g.240607C>T" "" "" "" "SDHA(NM_001294332.1):c.1407+16C>T (p.(=)), SDHA(NM_004168.4):c.1551+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240492C>T" "" "likely benign" "" "0000337618" "0" "70" "5" "251221" "251221" "subst" "1.62657E-5" "02327" "SDHA_000129" "g.251221G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.251106G>C" "" "likely pathogenic" "" "0000337619" "0" "10" "5" "251419" "251419" "subst" "0.136106" "02327" "SDHA_000130" "g.251419C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.251304C>T" "" "benign" "" "0000337620" "0" "10" "5" "251445" "251445" "subst" "0.00346628" "02327" "SDHA_000131" "g.251445G>A" "" "" "" "SDHA(NM_001294332.1):c.1520-8G>A (p.(=)), SDHA(NM_004168.4):c.1664-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.251330G>A" "" "benign" "" "0000337628" "0" "10" "5" "254636" "254636" "subst" "0.077773" "02327" "SDHA_000136" "g.254636C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.254521C>T" "" "benign" "" "0000339192" "0" "10" "5" "236587" "236587" "subst" "0.0190148" "02327" "SDHA_000090" "g.236587G>T" "" "" "" "SDHA(NM_001294332.1):c.1161G>T (p.(Leu387=)), SDHA(NM_004168.4):c.1305G>T (p.L435=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236472G>T" "" "benign" "" "0000339669" "0" "10" "5" "218356" "218356" "subst" "0" "02327" "SDHA_000110" "g.218356T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218241T>C" "" "benign" "" "0000339690" "0" "10" "5" "224633" "224633" "subst" "0.148562" "02327" "SDHA_000117" "g.224633A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.224518A>G" "" "benign" "" "0000339691" "0" "10" "5" "226090" "226090" "subst" "0.00257445" "02327" "SDHA_000045" "g.226090C>T" "" "" "" "SDHA(NM_004168.3):c.549C>T (p.G183=), SDHA(NM_004168.4):c.549C>T (p.G183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.225975C>T" "" "benign" "" "0000339692" "0" "10" "5" "226160" "226160" "subst" "0.151258" "02327" "SDHA_000118" "g.226160A>C" "" "" "" "SDHA(NM_004168.4):c.619A>C (p.R207=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226045A>C" "" "benign" "" "0000339698" "0" "10" "5" "228362" "228362" "subst" "0.151279" "02327" "SDHA_000119" "g.228362T>C" "" "" "" "SDHA(NM_004168.4):c.684T>C (p.N228=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228247T>C" "" "benign" "" "0000339703" "0" "10" "5" "231042" "231042" "subst" "0.00490873" "02327" "SDHA_000051" "g.231042C>T" "" "" "" "SDHA(NM_004168.4):c.822C>T (p.G274=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.230927C>T" "" "benign" "" "0000339704" "0" "10" "5" "231111" "231111" "subst" "0.701378" "02327" "SDHA_000084" "g.231111T>C" "" "" "" "SDHA(NM_004168.4):c.891T>C (p.P297=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.230996T>C" "" "benign" "" "0000339707" "0" "10" "5" "233572" "233572" "subst" "0.151226" "02327" "SDHA_000122" "g.233572A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233457A>G" "" "benign" "" "0000339709" "0" "30" "5" "233665" "233665" "subst" "0.00726839" "02327" "SDHA_000053" "g.233665C>T" "" "" "" "SDHA(NM_001294332.1):c.825C>T (p.(Gly275=)), SDHA(NM_004168.4):c.969C>T (p.G323=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233550C>T" "" "likely benign" "" "0000339710" "0" "10" "5" "233734" "233734" "subst" "0.153931" "02327" "SDHA_000124" "g.233734C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233619C>G" "" "benign" "" "0000339714" "0" "10" "5" "235364" "235364" "subst" "0.0266342" "02327" "SDHA_000125" "g.235364C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.235249C>T" "" "benign" "" "0000339717" "0" "30" "5" "236650" "236650" "subst" "0.00141893" "02327" "SDHA_000092" "g.236650G>A" "" "" "" "SDHA(NM_001294332.1):c.1224G>A (p.(Ser408=)), SDHA(NM_004168.3):c.1368G>A (p.S456=), SDHA(NM_004168.4):c.1368G>A (p.S456=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236535G>A" "" "likely benign" "" "0000339718" "0" "30" "5" "236695" "236695" "subst" "0.00262642" "02327" "SDHA_000094" "g.236695C>T" "" "" "" "SDHA(NM_004168.4):c.1413C>T (p.I471=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236580C>T" "" "likely benign" "" "0000339758" "0" "30" "5" "251178" "251178" "subst" "0.0022731" "02327" "SDHA_000037" "g.251178G>A" "" "" "" "SDHA(NM_004168.3):c.1623G>A (p.K541=), SDHA(NM_004168.4):c.1623G>A (p.K541=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.251063G>A" "" "likely benign" "" "0000339759" "0" "10" "5" "251469" "251469" "subst" "0.144837" "02327" "SDHA_000132" "g.251469G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.251354G>A" "" "benign" "" "0000339760" "0" "10" "5" "251541" "251541" "subst" "0.150137" "02327" "SDHA_000133" "g.251541A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.251426A>G" "" "benign" "" "0000339768" "0" "10" "5" "256472" "256472" "subst" "0.1556" "02327" "SDHA_000102" "g.256472G>A" "" "" "" "SDHA(NM_004168.4):c.1932G>A (p.V644=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.256357G>A" "" "benign" "" "0000340965" "0" "30" "5" "240567" "240567" "subst" "0.000109953" "02327" "SDHA_000127" "g.240567G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240452G>A" "" "likely benign" "" "0000341006" "0" "30" "5" "231021" "231021" "subst" "2.03113E-5" "02327" "SDHA_000120" "g.231021G>A" "" "" "" "SDHA(NM_001294332.1):c.657G>A (p.(Thr219=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.230906G>A" "" "likely benign" "" "0000341511" "0" "50" "5" "251567" "251567" "subst" "0" "02327" "SDHA_000135" "g.251567C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.251452C>T" "" "VUS" "" "0000342601" "0" "90" "5" "223624" "223624" "subst" "0.000195152" "02327" "SDHA_000013" "g.223624C>T" "" "" "" "SDHA(NM_001294332.1):c.91C>T (p.(Arg31Ter)), SDHA(NM_004168.3):c.91C>T (p.R31*), SDHA(NM_004168.4):c.91C>T (p.R31*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.223509C>T" "" "pathogenic" "" "0000342645" "0" "90" "5" "233681" "233681" "subst" "0" "02327" "SDHA_000123" "g.233681C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233566C>T" "" "pathogenic" "" "0000343137" "0" "90" "5" "251542" "251542" "subst" "2.03472E-5" "02327" "SDHA_000014" "g.251542C>T" "" "" "" "SDHA(NM_001294332.2):c.1609C>T (p.R537W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.251427C>T" "" "pathogenic" "" "0000344080" "0" "10" "5" "223646" "223646" "subst" "0.0352978" "02327" "SDHA_000009" "g.223646A>T" "" "" "" "SDHA(NM_001294332.1):c.113A>T (p.(Asp38Val)), SDHA(NM_004168.4):c.113A>T (p.D38V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.223531A>T" "" "benign" "" "0000346179" "0" "70" "5" "251557" "251557" "subst" "0" "02327" "SDHA_000134" "g.251557G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.251442G>A" "" "likely pathogenic" "" "0000348358" "0" "50" "5" "231109" "231109" "subst" "1.22119E-5" "02327" "SDHA_000121" "g.231109C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.230994C>T" "" "VUS" "" "0000350087" "0" "50" "5" "235444" "235444" "subst" "1.62497E-5" "02327" "SDHA_000126" "g.235444A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.235329A>G" "" "VUS" "" "0000350155" "0" "10" "5" "254599" "254599" "subst" "0.142136" "02327" "SDHA_000010" "g.254599A>T" "" "" "" "SDHA(NM_004168.4):c.1886A>T (p.Y629F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.254484A>T" "" "benign" "" "0000350625" "0" "10" "5" "256509" "256509" "subst" "0.130655" "02327" "SDHA_000011" "g.256509G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.256394G>A" "" "benign" "" "0000455426" "11" "70" "5" "256485" "256486" "del" "0" "00006" "SDHA_000104" "g.256485_256486del" "" "{PMID:Zhang 2018:30276801}" "" "NM_001294332 1800_1801del" "" "Germline" "no" "" "0" "" "" "g.256370_256371del" "" "VUS" "" "0000525500" "0" "30" "5" "218464" "218464" "subst" "0.000684007" "02325" "SDHA_000114" "g.218464A>C" "" "" "" "SDHA(NM_004168.4):c.-7A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218349A>C" "" "likely benign" "" "0000525501" "0" "30" "5" "218480" "218480" "subst" "0" "01943" "CCDC127_000001" "g.218480G>A" "" "" "" "SDHA(NM_004168.3):c.10G>A (p.V4I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218365G>A" "" "likely benign" "" "0000525502" "0" "90" "5" "223624" "223624" "subst" "0.000195152" "01804" "SDHA_000013" "g.223624C>T" "" "" "" "SDHA(NM_001294332.1):c.91C>T (p.(Arg31Ter)), SDHA(NM_004168.3):c.91C>T (p.R31*), SDHA(NM_004168.4):c.91C>T (p.R31*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.223509C>T" "" "pathogenic" "" "0000525503" "0" "50" "5" "223625" "223625" "subst" "1.62625E-5" "01804" "SDHA_000137" "g.223625G>A" "" "" "" "SDHA(NM_001294332.1):c.92G>A (p.(Arg31Gln)), SDHA(NM_004168.4):c.92G>A (p.R31Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.223510G>A" "" "VUS" "" "0000525504" "0" "10" "5" "223646" "223646" "subst" "0.0352978" "01804" "SDHA_000009" "g.223646A>T" "" "" "" "SDHA(NM_001294332.1):c.113A>T (p.(Asp38Val)), SDHA(NM_004168.4):c.113A>T (p.D38V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.223531A>T" "" "benign" "" "0000525505" "0" "10" "5" "226091" "226091" "subst" "0.00151867" "01943" "SDHA_000074" "g.226091G>A" "" "" "" "SDHA(NM_004168.2):c.550G>A (p.(Gly184Arg)), SDHA(NM_004168.3):c.550G>A (p.G184R), SDHA(NM_004168.4):c.550G>A (p.G184R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.225976G>A" "" "benign" "" "0000525506" "0" "10" "5" "226222" "226222" "subst" "0" "02327" "SDHA_000138" "g.226222T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.226107T>C" "" "benign" "" "0000525507" "0" "30" "5" "228293" "228293" "subst" "0" "01804" "SDHA_000139" "g.228293C>T" "" "" "" "SDHA(NM_004168.2):c.622-7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228178C>T" "" "likely benign" "" "0000525508" "0" "50" "5" "228357" "228357" "subst" "0" "02325" "SDHA_000140" "g.228357G>A" "" "" "" "SDHA(NM_001294332.2):c.535G>A (p.E179K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228242G>A" "" "VUS" "" "0000525509" "0" "30" "5" "228401" "228401" "subst" "0.000435012" "02327" "SDHA_000080" "g.228401C>T" "" "" "" "SDHA(NM_001294332.1):c.579C>T (p.(Asp193=)), SDHA(NM_004168.3):c.723C>T (p.D241=), SDHA(NM_004168.4):c.723C>T (p.D241=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228286C>T" "" "likely benign" "" "0000525510" "0" "50" "5" "231026" "231026" "subst" "0" "02327" "SDHA_000141" "g.231026C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.230911C>T" "" "VUS" "" "0000525511" "0" "30" "5" "233698" "233698" "subst" "0.000840555" "01943" "SDHA_000027" "g.233698G>A" "" "" "" "SDHA(NM_004168.3):c.1002G>A (p.A334=), SDHA(NM_004168.4):c.1002G>A (p.A334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.233583G>A" "" "likely benign" "" "0000525512" "0" "30" "5" "235309" "235309" "subst" "4.06603E-5" "02327" "SDHA_000142" "g.235309C>G" "" "" "" "SDHA(NM_004168.3):c.1115C>G (p.P372R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235194C>G" "" "likely benign" "" "0000525513" "0" "30" "5" "236587" "236587" "subst" "0.0190148" "01804" "SDHA_000090" "g.236587G>T" "" "" "" "SDHA(NM_001294332.1):c.1161G>T (p.(Leu387=)), SDHA(NM_004168.4):c.1305G>T (p.L435=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236472G>T" "" "likely benign" "" "0000525514" "0" "30" "5" "236617" "236617" "subst" "2.44087E-5" "01804" "SDHA_000143" "g.236617G>T" "" "" "" "SDHA(NM_001294332.1):c.1191G>T (p.(Ser397=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236502G>T" "" "likely benign" "" "0000525515" "0" "50" "5" "236619" "236619" "subst" "0" "01804" "SDHA_000144" "g.236619T>C" "" "" "" "SDHA(NM_001294332.1):c.1193T>C (p.(Val398Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236504T>C" "" "VUS" "" "0000525517" "0" "30" "5" "236692" "236692" "subst" "0.000138233" "02327" "SDHA_000146" "g.236692C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236577C>T" "" "likely benign" "" "0000525518" "0" "30" "5" "236697" "236697" "subst" "0" "02326" "SDHA_000147" "g.236697A>C" "" "" "" "SDHA(NM_004168.4):c.1415A>C (p.E472A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236582A>C" "" "likely benign" "" "0000525519" "0" "10" "5" "236753" "236753" "subst" "0.148317" "02327" "SDHA_000148" "g.236753C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236638C>T" "" "benign" "" "0000525520" "0" "10" "5" "236760" "236760" "subst" "0.156165" "02327" "SDHA_000149" "g.236760C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236645C>A" "" "benign" "" "0000525521" "0" "30" "5" "240501" "240501" "subst" "1.22271E-5" "02327" "SDHA_000150" "g.240501C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240386C>T" "" "likely benign" "" "0000525522" "0" "90" "5" "240574" "240574" "subst" "3.26139E-5" "02327" "SDHA_000151" "g.240574C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240459C>T" "" "pathogenic" "" "0000525523" "0" "30" "5" "240607" "240607" "subst" "0.00193552" "02325" "SDHA_000128" "g.240607C>T" "" "" "" "SDHA(NM_001294332.1):c.1407+16C>T (p.(=)), SDHA(NM_004168.4):c.1551+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240492C>T" "" "likely benign" "" "0000525524" "0" "10" "5" "240607" "240607" "subst" "0.00193552" "02329" "SDHA_000128" "g.240607C>T" "" "" "" "SDHA(NM_001294332.1):c.1407+16C>T (p.(=)), SDHA(NM_004168.4):c.1551+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240492C>T" "" "benign" "" "0000525525" "0" "30" "5" "251178" "251178" "subst" "0.0022731" "02330" "SDHA_000037" "g.251178G>A" "" "" "" "SDHA(NM_004168.3):c.1623G>A (p.K541=), SDHA(NM_004168.4):c.1623G>A (p.K541=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.251063G>A" "" "likely benign" "" "0000525526" "0" "10" "5" "251445" "251445" "subst" "0.00346628" "02329" "SDHA_000131" "g.251445G>A" "" "" "" "SDHA(NM_001294332.1):c.1520-8G>A (p.(=)), SDHA(NM_004168.4):c.1664-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.251330G>A" "" "benign" "" "0000525527" "0" "50" "5" "251583" "251583" "subst" "0" "02327" "SDHA_000152" "g.251583G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.251468G>A" "" "VUS" "" "0000525528" "0" "50" "5" "254512" "254512" "subst" "0" "02327" "SDHA_000042" "g.254512G>A" "" "" "" "SDHA(NM_004168.4):c.1799G>A (p.R600Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.254397G>A" "" "VUS" "" "0000525529" "0" "30" "5" "254607" "254607" "subst" "1.26878E-5" "02327" "SDHA_000153" "g.254607G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.254492G>A" "" "likely benign" "" "0000525530" "0" "50" "5" "256437" "256438" "del" "0" "01804" "SDHA_000100" "g.256437_256438del" "" "" "" "SDHA(NM_001294332.1):c.1765-12_1765-11del (p.(=)), SDHA(NM_004168.4):c.1909-12_1909-11delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.256322_256323del" "" "VUS" "" "0000525531" "0" "30" "5" "256514" "256514" "subst" "0.000239605" "01804" "SDHA_000106" "g.256514G>C" "" "" "" "SDHA(NM_001294332.1):c.1830G>C (p.(Pro610=)), SDHA(NM_004168.4):c.1974G>C (p.P658=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.256399G>C" "" "likely benign" "" "0000595712" "0" "90" "5" "223624" "223624" "subst" "0.000195152" "00727" "SDHA_000013" "g.223624C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.223509C>T" "" "pathogenic" "" "0000595713" "0" "90" "5" "223624" "223624" "subst" "0.000195152" "00727" "SDHA_000013" "g.223624C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.223509C>T" "" "pathogenic" "" "0000609684" "0" "90" "5" "223595" "223595" "subst" "0" "02327" "SDHA_000022" "g.223595A>G" "" "" "" "SDHA(NM_004168.4):c.64-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.223480A>G" "" "pathogenic" "" "0000609685" "0" "90" "5" "223624" "223624" "subst" "0.000195152" "02325" "SDHA_000013" "g.223624C>T" "" "" "" "SDHA(NM_001294332.1):c.91C>T (p.(Arg31Ter)), SDHA(NM_004168.3):c.91C>T (p.R31*), SDHA(NM_004168.4):c.91C>T (p.R31*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.223509C>T" "" "pathogenic" "" "0000609686" "0" "30" "5" "228373" "228373" "subst" "0" "02327" "SDHA_000154" "g.228373G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228258G>A" "" "likely benign" "" "0000609687" "0" "50" "5" "233751" "233751" "subst" "9.34291E-5" "02325" "SDHA_000155" "g.233751G>A" "" "" "" "SDHA(NM_004168.2):c.1055G>A (p.(Arg352Gln)), SDHA(NM_004168.4):c.1055G>A (p.R352Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.233636G>A" "" "VUS" "" "0000609688" "0" "30" "5" "236650" "236650" "subst" "0.00141893" "01943" "SDHA_000092" "g.236650G>A" "" "" "" "SDHA(NM_001294332.1):c.1224G>A (p.(Ser408=)), SDHA(NM_004168.3):c.1368G>A (p.S456=), SDHA(NM_004168.4):c.1368G>A (p.S456=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236535G>A" "" "likely benign" "" "0000609689" "0" "50" "5" "251450" "251450" "subst" "0" "02327" "SDHA_000156" "g.251450C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.251335C>A" "" "VUS" "" "0000609690" "0" "10" "5" "256451" "256451" "subst" "0.00469991" "02327" "SDHA_000101" "g.256451C>T" "" "" "" "SDHA(NM_004168.4):c.1911C>T (p.V637=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.256336C>T" "" "benign" "" "0000621557" "0" "50" "5" "223666" "223666" "subst" "0.000443154" "02325" "SDHA_000063" "g.223666G>A" "" "" "" "SDHA(NM_004168.3):c.133G>A (p.A45T), SDHA(NM_004168.4):c.133G>A (p.A45T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.223551G>A" "" "VUS" "" "0000621558" "0" "30" "5" "235268" "235268" "subst" "0" "02325" "SDHA_000087" "g.235268C>T" "" "" "" "SDHA(NM_004168.4):c.1074C>T (p.G358=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235153C>T" "" "likely benign" "" "0000647113" "0" "90" "5" "223624" "223624" "subst" "0.000195152" "01164" "SDHA_000013" "g.223624C>T" "" "" "" "" "ACMG: PVS1, PM2, PM3, PP1 class 5" "Germline" "" "rs142441643" "0" "" "" "g.223509C>T" "" "pathogenic" "ACMG" "0000651692" "1" "30" "5" "224487" "224487" "subst" "0.00148396" "03575" "SDHA_000065" "g.224487T>C" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs142926807}" "Germline" "" "rs142926807" "0" "" "" "g.224372T>C" "" "likely benign" "" "0000651693" "1" "50" "5" "231038" "231038" "subst" "1.21888E-5" "03575" "SDHA_000050" "g.231038C>T" "11/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 11 heterozygous, no homozygous; {DB:CLININrs587781720}" "Germline" "" "rs587781720" "0" "" "" "g.230923C>T" "" "VUS" "" "0000655368" "0" "30" "5" "223666" "223666" "subst" "0.000443154" "01943" "SDHA_000063" "g.223666G>A" "" "" "" "SDHA(NM_004168.3):c.133G>A (p.A45T), SDHA(NM_004168.4):c.133G>A (p.A45T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.223551G>A" "" "likely benign" "" "0000655369" "0" "10" "5" "226160" "226160" "subst" "0.151258" "02326" "SDHA_000118" "g.226160A>C" "" "" "" "SDHA(NM_004168.4):c.619A>C (p.R207=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.226045A>C" "" "benign" "" "0000665326" "0" "90" "5" "223624" "223624" "subst" "0.000195152" "01164" "SDHA_000013" "g.223624C>T" "" "" "" "" "" "Germline" "" "rs142441643" "0" "" "" "g.223509C>T" "" "pathogenic" "" "0000677494" "0" "30" "5" "231051" "231051" "subst" "4.06451E-6" "02327" "SDHA_000157" "g.231051G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677495" "0" "30" "5" "236678" "236678" "subst" "0" "01804" "SDHA_000093" "g.236678G>A" "" "" "" "SDHA(NM_004168.2):c.1396G>A (p.(Ala466Thr)), SDHA(NM_004168.4):c.1396G>A (p.A466T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677496" "0" "50" "5" "254626" "254626" "subst" "0" "02327" "SDHA_000158" "g.254626G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689502" "0" "50" "5" "228370" "228370" "subst" "8.13127E-6" "01943" "SDHA_000079" "g.228370G>T" "" "" "" "SDHA(NM_004168.3):c.692G>T (p.C231F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689503" "0" "50" "5" "254509" "254509" "subst" "0" "01943" "SDHA_000159" "g.254509T>C" "" "" "" "SDHA(NM_004168.3):c.1796T>C (p.V599A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000704341" "0" "50" "5" "233721" "233721" "subst" "0" "00006" "SDHA_000160" "g.233721T>G" "" "{PMID:Isbister 2020:32931854}" "" "" "" "Germline" "" "" "0" "" "" "g.233606T>G" "" "VUS" "ACMG" "0000720390" "0" "30" "5" "223679" "223679" "subst" "0.000650502" "01943" "SDHA_000161" "g.223679A>G" "" "" "" "SDHA(NM_004168.3):c.146A>G (p.D49G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720391" "0" "70" "5" "224474" "224474" "subst" "0" "02329" "SDHA_000162" "g.224474G>A" "" "" "" "SDHA(NM_004168.4):c.151-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000720392" "0" "50" "5" "235309" "235309" "subst" "4.06603E-5" "01943" "SDHA_000142" "g.235309C>G" "" "" "" "SDHA(NM_004168.3):c.1115C>G (p.P372R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720393" "0" "30" "5" "240563" "240563" "subst" "0.000602483" "02325" "SDHA_000035" "g.240563C>T" "" "" "" "SDHA(NM_004168.2):c.1523C>T (p.(Thr508Ile)), SDHA(NM_004168.4):c.1523C>T (p.T508I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720394" "0" "70" "5" "240575" "240575" "subst" "1.22369E-5" "02329" "SDHA_000096" "g.240575G>A" "" "" "" "SDHA(NM_001294332.2):c.1391G>A (p.R464Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000720395" "0" "70" "5" "251542" "251542" "subst" "2.03472E-5" "02329" "SDHA_000014" "g.251542C>T" "" "" "" "SDHA(NM_001294332.2):c.1609C>T (p.R537W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000720396" "0" "50" "5" "256476" "256476" "subst" "1.62625E-5" "01804" "SDHA_000163" "g.256476G>A" "" "" "" "SDHA(NM_001294332.1):c.1792G>A (p.(Asp598Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000787391" "1" "50" "5" "224529" "224529" "subst" "3.25251E-5" "00006" "SDHA_000164" "g.224529G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs370481102" "0" "" "" "g.224414G>A" "{CV-RCV:000234463.4}" "VUS" "" "0000787610" "2" "50" "5" "235371" "235371" "subst" "7.71799E-5" "00000" "SDHA_000165" "g.235371G>T" "" "0" "" "" "" "Germline" "" "rs372989971" "0" "" "" "g.235256G>T" "{CV-RCV:000548710.1}" "VUS" "" "0000790045" "1" "70" "5" "236634" "236634" "subst" "4.0657E-6" "00006" "SDHA_000166" "g.236634G>A" "" "{PMID:Nguyen 2021:34011823}" "" "" "ACMG PS3 PM2 PM5 PP3 BP1; no genotypes reported" "Germline" "" "" "0" "" "" "g.236519G>A" "" "likely pathogenic" "" "0000802060" "0" "70" "5" "223684" "223684" "subst" "1.21969E-5" "02327" "SDHA_000064" "g.223684G>A" "" "" "" "SDHA(NM_004168.4):c.150+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000802061" "0" "50" "5" "226154" "226154" "subst" "4.47005E-5" "02325" "SDHA_000167" "g.226154T>C" "" "" "" "SDHA(NM_004168.4):c.613T>C (p.Y205H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802062" "0" "10" "5" "228287" "228287" "del" "0" "02369" "SDHA_000076" "g.228287del" "" "" "" "SDHA(NM_004168.4):c.622-13delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802063" "0" "30" "5" "251178" "251178" "subst" "0.0022731" "01943" "SDHA_000037" "g.251178G>A" "" "" "" "SDHA(NM_004168.3):c.1623G>A (p.K541=), SDHA(NM_004168.4):c.1623G>A (p.K541=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000830286" "0" "70" "5" "230998" "230998" "subst" "0" "00006" "SDHA_000168" "g.230998G>A" "" "{PMID:Kim 2021:33219105}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.230883G>A" "" "likely pathogenic (dominant)" "" "0000850886" "0" "10" "5" "228362" "228362" "subst" "0.151279" "02326" "SDHA_000119" "g.228362T>C" "" "" "" "SDHA(NM_004168.4):c.684T>C (p.N228=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850887" "0" "30" "5" "228401" "228401" "subst" "0.000435012" "02326" "SDHA_000080" "g.228401C>T" "" "" "" "SDHA(NM_001294332.1):c.579C>T (p.(Asp193=)), SDHA(NM_004168.3):c.723C>T (p.D241=), SDHA(NM_004168.4):c.723C>T (p.D241=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850888" "0" "30" "5" "235216" "235216" "subst" "0.00116742" "02327" "SDHA_000170" "g.235216G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850889" "0" "70" "5" "251555" "251555" "subst" "0" "02327" "SDHA_000038" "g.251555G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000859903" "0" "30" "5" "228292" "228292" "subst" "0.000101745" "02327" "SDHA_000078" "g.228292T>C" "" "" "" "SDHA(NM_004168.4):c.622-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859904" "0" "50" "5" "228307" "228307" "subst" "0" "01804" "SDHA_000169" "g.228307G>T" "" "" "" "SDHA(NM_004168.2):c.629G>T (p.(Arg210Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859905" "0" "30" "5" "236650" "236650" "subst" "0.00141893" "01804" "SDHA_000092" "g.236650G>A" "" "" "" "SDHA(NM_001294332.1):c.1224G>A (p.(Ser408=)), SDHA(NM_004168.3):c.1368G>A (p.S456=), SDHA(NM_004168.4):c.1368G>A (p.S456=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859906" "0" "30" "5" "240607" "240607" "subst" "0.00193552" "01804" "SDHA_000128" "g.240607C>T" "" "" "" "SDHA(NM_001294332.1):c.1407+16C>T (p.(=)), SDHA(NM_004168.4):c.1551+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000869075" "21" "70" "5" "254521" "254521" "subst" "0" "00006" "SDHA_000171" "g.254521A>G" "" "{PMID:Schuermans 2022:35606766}" "" "" "ACMG PM2, PP3, PP5, PP4, PP1" "Germline" "" "" "0" "" "" "g.254406A>G" "" "likely pathogenic (recessive)" "" "0000886788" "0" "50" "5" "223625" "223625" "subst" "1.62625E-5" "02325" "SDHA_000137" "g.223625G>A" "" "" "" "SDHA(NM_001294332.1):c.92G>A (p.(Arg31Gln)), SDHA(NM_004168.4):c.92G>A (p.R31Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886789" "0" "30" "5" "225515" "225515" "subst" "0.00208372" "01804" "SDHA_000070" "g.225515G>T" "" "" "" "SDHA(NM_001330758.1):c.313-19G>T (p.(=)), SDHA(NM_004168.4):c.313-19G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886790" "0" "30" "5" "225515" "225515" "subst" "0.00208372" "02326" "SDHA_000070" "g.225515G>T" "" "" "" "SDHA(NM_001330758.1):c.313-19G>T (p.(=)), SDHA(NM_004168.4):c.313-19G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886791" "0" "30" "5" "225697" "225697" "subst" "0.00691521" "01804" "SDHA_000073" "g.225697G>C" "" "" "" "SDHA(NM_001330758.1):c.456+20G>C (p.(=)), SDHA(NM_004168.4):c.456+20G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886792" "0" "30" "5" "233665" "233665" "subst" "0.00726839" "01804" "SDHA_000053" "g.233665C>T" "" "" "" "SDHA(NM_001294332.1):c.825C>T (p.(Gly275=)), SDHA(NM_004168.4):c.969C>T (p.G323=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886793" "0" "30" "5" "233695" "233695" "subst" "4.46664E-5" "02330" "SDHA_000172" "g.233695C>G" "" "" "" "SDHA(NM_004168.4):c.999C>G (p.V333=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886794" "0" "30" "5" "233698" "233698" "subst" "0.000840555" "02329" "SDHA_000027" "g.233698G>A" "" "" "" "SDHA(NM_004168.3):c.1002G>A (p.A334=), SDHA(NM_004168.4):c.1002G>A (p.A334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886795" "0" "30" "5" "233698" "233698" "subst" "0.000840555" "02327" "SDHA_000027" "g.233698G>A" "" "" "" "SDHA(NM_004168.3):c.1002G>A (p.A334=), SDHA(NM_004168.4):c.1002G>A (p.A334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886796" "0" "30" "5" "233768" "233769" "dup" "0" "02329" "SDHA_000173" "g.233768_233769dup" "" "" "" "SDHA(NM_004168.4):c.1064+7_1064+8dupGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886797" "0" "30" "5" "235427" "235427" "subst" "2.43671E-5" "02327" "SDHA_000174" "g.235427C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886798" "0" "10" "5" "236650" "236650" "subst" "0.00141893" "02326" "SDHA_000092" "g.236650G>A" "" "" "" "SDHA(NM_001294332.1):c.1224G>A (p.(Ser408=)), SDHA(NM_004168.3):c.1368G>A (p.S456=), SDHA(NM_004168.4):c.1368G>A (p.S456=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886799" "0" "90" "5" "236714" "236715" "del" "4.06577E-6" "02326" "SDHA_000175" "g.236714_236715del" "" "" "" "SDHA(NM_004168.4):c.1432_1432+1delGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000886800" "0" "30" "5" "254489" "254489" "subst" "0" "02327" "SDHA_000176" "g.254489A>G" "" "" "" "SDHA(NM_004168.4):c.1795-19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886801" "0" "10" "5" "256451" "256451" "subst" "0.00469991" "02326" "SDHA_000101" "g.256451C>T" "" "" "" "SDHA(NM_004168.4):c.1911C>T (p.V637=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912310" "0" "50" "5" "233631" "233631" "subst" "4.06062E-6" "02325" "SDHA_000177" "g.233631G>A" "" "" "" "SDHA(NM_004168.4):c.935G>A (p.R312H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912311" "0" "30" "5" "254489" "254489" "subst" "0" "02329" "SDHA_000176" "g.254489A>G" "" "" "" "SDHA(NM_004168.4):c.1795-19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912312" "0" "90" "5" "254600" "254600" "subst" "0" "01804" "SDHA_000178" "g.254600T>A" "" "" "" "SDHA(NM_004168.2):c.1887T>A (p.(Tyr629*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000917056" "0" "90" "5" "226095" "226095" "dup" "0" "01082" "SDHA_000179" "g.226095dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "1071644" "pathogenic" "ACMG" "0000924326" "0" "90" "5" "228345" "228345" "del" "0" "01804" "SDHA_000180" "g.228345del" "" "" "" "SDHA(NM_004168.2):c.667del (p.(Asp223IlefsTer3))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000924327" "0" "30" "5" "251449" "251449" "subst" "0" "02325" "SDHA_000181" "g.251449C>G" "" "" "" "SDHA(NM_004168.4):c.1664-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924328" "0" "30" "5" "256437" "256438" "del" "0" "02330" "SDHA_000099" "g.256437_256438del" "" "" "" "SDHA(NM_001294332.1):c.1765-12_1765-11del (p.(=)), SDHA(NM_004168.4):c.1909-12_1909-11delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924329" "0" "50" "5" "256519" "256519" "subst" "0.000105707" "02327" "SDHA_000182" "g.256519C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929064" "0" "30" "5" "223640" "223640" "subst" "4.06564E-6" "02327" "SDHA_000183" "g.223640C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929065" "0" "50" "5" "233597" "233597" "subst" "0" "02329" "SDHA_000184" "g.233597T>C" "" "" "" "SDHA(NM_004168.4):c.901T>C (p.Y301H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929066" "0" "30" "5" "233698" "233698" "subst" "0.000840555" "02326" "SDHA_000027" "g.233698G>A" "" "" "" "SDHA(NM_004168.3):c.1002G>A (p.A334=), SDHA(NM_004168.4):c.1002G>A (p.A334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929067" "0" "30" "5" "235283" "235283" "subst" "0.000146399" "02327" "SDHA_000185" "g.235283C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929068" "0" "90" "5" "236714" "236715" "del" "4.06577E-6" "02327" "SDHA_000175" "g.236714_236715del" "" "" "" "SDHA(NM_004168.4):c.1432_1432+1delGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000933316" "0" "50" "5" "223666" "223666" "subst" "0.000443154" "03628" "SDHA_000063" "g.223666G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.223551G>A" "" "VUS" "ACMG" "0000948543" "0" "50" "5" "225612" "225612" "subst" "8.13345E-6" "02325" "SDHA_000186" "g.225612G>A" "" "" "" "SDHA(NM_004168.4):c.391G>A (p.D131N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948544" "0" "50" "5" "228343" "228343" "subst" "0" "02329" "SDHA_000187" "g.228343T>C" "" "" "" "SDHA(NM_004168.4):c.665T>C (p.L222S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948545" "0" "30" "5" "228383" "228383" "subst" "1.21968E-5" "02327" "SDHA_000188" "g.228383C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000957822" "0" "90" "5" "251554" "251554" "subst" "1.22033E-5" "00006" "SDHA_000008" "g.251554C>T" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.251439C>T" "" "pathogenic" "" "0000957848" "0" "70" "5" "236628" "236628" "subst" "0" "00006" "SDHA_000145" "g.236628C>T" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.236513C>T" "" "VUS" "" "0000957890" "0" "70" "5" "231050" "231050" "subst" "7.72257E-5" "00006" "SDHA_000189" "g.231050C>T" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.230935C>T" "" "VUS" "" "0000963588" "0" "30" "5" "223666" "223666" "subst" "0.000443154" "02327" "SDHA_000063" "g.223666G>A" "" "" "" "SDHA(NM_004168.3):c.133G>A (p.A45T), SDHA(NM_004168.4):c.133G>A (p.A45T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963589" "0" "10" "5" "224656" "224656" "subst" "0" "02329" "SDHA_000069" "g.224656C>T" "" "" "" "SDHA(NM_001294332.1):c.312+20C>T (p.(=)), SDHA(NM_004168.4):c.312+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000963590" "0" "50" "5" "233651" "233651" "subst" "0.00015024" "01804" "SDHA_000085" "g.233651A>C" "" "" "" "SDHA(NM_001294332.1):c.811A>C (p.(Ile271Leu)), SDHA(NM_004168.4):c.955A>C (p.I319L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963591" "0" "30" "5" "235268" "235268" "subst" "0" "02327" "SDHA_000087" "g.235268C>T" "" "" "" "SDHA(NM_004168.4):c.1074C>T (p.G358=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963593" "0" "30" "5" "236650" "236650" "subst" "0.00141893" "02329" "SDHA_000092" "g.236650G>A" "" "" "" "SDHA(NM_001294332.1):c.1224G>A (p.(Ser408=)), SDHA(NM_004168.3):c.1368G>A (p.S456=), SDHA(NM_004168.4):c.1368G>A (p.S456=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976763" "0" "70" "5" "218471" "218471" "subst" "8.56663E-6" "01804" "CCDC127_000003" "g.218471A>G" "" "" "" "SDHA(NM_004168.4):c.1A>G (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000976764" "0" "30" "5" "218541" "218541" "subst" "0" "01804" "CCDC127_000004" "g.218541C>T" "" "" "" "SDHA(NM_004168.2):c.63+8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976765" "0" "50" "5" "225649" "225649" "subst" "4.07272E-6" "01804" "SDHA_000190" "g.225649C>T" "" "" "" "SDHA(NM_004168.4):c.428C>T (p.(Thr143Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976766" "0" "50" "5" "226125" "226125" "subst" "4.06124E-6" "01804" "SDHA_000191" "g.226125G>A" "" "" "" "SDHA(NM_004168.4):c.584G>A (p.(Arg195Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976767" "0" "30" "5" "228401" "228401" "subst" "0.000435012" "01804" "SDHA_000080" "g.228401C>T" "" "" "" "SDHA(NM_001294332.1):c.579C>T (p.(Asp193=)), SDHA(NM_004168.3):c.723C>T (p.D241=), SDHA(NM_004168.4):c.723C>T (p.D241=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976768" "0" "50" "5" "233681" "233681" "subst" "2.03029E-5" "01804" "SDHA_000192" "g.233681C>G" "" "" "" "SDHA(NM_004168.4):c.985C>G (p.(Arg329Gly), p.R329G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976769" "0" "50" "5" "233751" "233751" "subst" "9.34291E-5" "01804" "SDHA_000155" "g.233751G>A" "" "" "" "SDHA(NM_004168.2):c.1055G>A (p.(Arg352Gln)), SDHA(NM_004168.4):c.1055G>A (p.R352Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976770" "0" "50" "5" "233751" "233751" "subst" "9.34291E-5" "02327" "SDHA_000155" "g.233751G>A" "" "" "" "SDHA(NM_004168.2):c.1055G>A (p.(Arg352Gln)), SDHA(NM_004168.4):c.1055G>A (p.R352Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976771" "0" "50" "5" "236649" "236649" "subst" "0" "01804" "SDHA_000091" "g.236649C>T" "" "" "" "SDHA(NM_004168.4):c.1367C>T (p.(Ser456Leu), p.S456L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984921" "0" "90" "5" "224547" "224547" "subst" "8.53797E-5" "00006" "SDHA_000056" "g.224547C>T" "" "{PMID:Pan 2024:38479391}, {DOI:Pan 2024:10.1016/j.ajhg.2024.02.007}" "" "" "variant associated with pheochromocytoma and paraganglioma" "De novo" "" "" "0" "" "" "g.224432C>T" "" "pathogenic (dominant)" "" "0000994987" "0" "50" "5" "224479" "224479" "subst" "0.000158562" "01804" "SDHA_000193" "g.224479C>T" "" "" "" "SDHA(NM_004168.2):c.155C>T (p.(Ser52Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994988" "0" "50" "5" "224574" "224574" "subst" "0" "01804" "SDHA_000194" "g.224574G>A" "" "" "" "SDHA(NM_004168.2):c.250G>A (p.(Gly84Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994989" "0" "50" "5" "228339" "228339" "subst" "0" "01804" "SDHA_000195" "g.228339G>A" "" "" "" "SDHA(NM_004168.2):c.661G>A (p.(Ala221Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994990" "0" "30" "5" "231021" "231021" "subst" "2.03113E-5" "01804" "SDHA_000120" "g.231021G>A" "" "" "" "SDHA(NM_001294332.1):c.657G>A (p.(Thr219=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994991" "0" "10" "5" "240563" "240563" "subst" "0.000602483" "01804" "SDHA_000035" "g.240563C>T" "" "" "" "SDHA(NM_004168.2):c.1523C>T (p.(Thr508Ile)), SDHA(NM_004168.4):c.1523C>T (p.T508I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000994992" "0" "50" "5" "251207" "251207" "subst" "2.84652E-5" "01804" "SDHA_000196" "g.251207C>T" "" "" "" "SDHA(NM_004168.2):c.1652C>T (p.(Thr551Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994993" "0" "50" "5" "251507" "251507" "subst" "0" "02329" "SDHA_000197" "g.251507T>C" "" "" "" "SDHA(NM_004168.4):c.1718T>C (p.L573P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994994" "0" "90" "5" "254505" "254505" "subst" "0" "01804" "SDHA_000198" "g.254505C>G" "" "" "" "SDHA(NM_001294332.1):c.1651-3C>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000994995" "0" "30" "5" "256548" "256548" "subst" "0" "02327" "SDHA_000107" "g.256548T>C" "" "" "" "SDHA(NM_004168.4):c.*13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014120" "0" "50" "5" "224656" "224656" "subst" "0" "01804" "SDHA_000069" "g.224656C>T" "" "" "" "SDHA(NM_001294332.1):c.312+20C>T (p.(=)), SDHA(NM_004168.4):c.312+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014121" "0" "30" "5" "225593" "225593" "subst" "6.91231E-5" "02327" "SDHA_000199" "g.225593C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014122" "0" "50" "5" "231092" "231092" "subst" "0" "02325" "SDHA_000200" "g.231092A>C" "" "" "" "SDHA(NM_004168.4):c.872A>C (p.E291A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014123" "0" "30" "5" "233614" "233614" "subst" "4.8727E-5" "02330" "SDHA_000201" "g.233614C>G" "" "" "" "SDHA(NM_004168.4):c.918C>G (p.L306=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014124" "0" "50" "5" "235377" "235377" "subst" "0" "02325" "SDHA_000202" "g.235377G>T" "" "" "" "SDHA(NM_004168.4):c.1183G>T (p.V395F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001022497" "1" "70" "5" "235450" "235450" "subst" "0" "00006" "SDHA_000203" "g.235450G>A" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PS4, PM2, PP3, PP4," "Germline" "" "" "0" "" "" "g.235335G>A" "" "likely pathogenic" "" "0001022565" "2" "50" "5" "233687" "233687" "subst" "0.000170545" "00006" "SDHA_000086" "g.233687G>A" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PP3, PP4," "Germline" "" "" "0" "" "" "g.233572G>A" "" "VUS" "" "0001025087" "0" "10" "5" "218487" "218487" "subst" "0.0013895" "02327" "SDHA_000062" "g.218487G>A" "" "" "" "SDHA(NM_004168.4):c.17G>A (p.G6D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025088" "0" "50" "5" "233681" "233681" "subst" "2.03029E-5" "02325" "SDHA_000192" "g.233681C>G" "" "" "" "SDHA(NM_004168.4):c.985C>G (p.(Arg329Gly), p.R329G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025089" "0" "30" "5" "251429" "251429" "del" "0.000593951" "02329" "SDHA_000204" "g.251429del" "" "" "" "SDHA(NM_004168.4):c.1664-24delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025090" "0" "70" "5" "254505" "254505" "subst" "0" "02327" "SDHA_000198" "g.254505C>G" "" "" "" "SDHA(NM_001294332.1):c.1651-3C>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001035167" "0" "30" "5" "223669" "223669" "subst" "0.000292726" "02329" "SDHA_000054" "g.223669A>G" "" "" "" "SDHA(NM_004168.4):c.136A>G (p.K46E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035168" "0" "50" "5" "233730" "233730" "subst" "4.06091E-6" "02327" "SDHA_000205" "g.233730G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035169" "0" "50" "5" "236634" "236634" "subst" "4.0657E-6" "01804" "SDHA_000166" "g.236634G>A" "" "" "" "SDHA(NM_001294332.1):c.1208G>A (p.(Arg403His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035170" "0" "50" "5" "236649" "236649" "subst" "0" "02329" "SDHA_000091" "g.236649C>T" "" "" "" "SDHA(NM_004168.4):c.1367C>T (p.(Ser456Leu), p.S456L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035171" "0" "30" "5" "236653" "236653" "subst" "0" "02329" "SDHA_000206" "g.236653C>A" "" "" "" "SDHA(NM_004168.4):c.1371C>A (p.L457=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046026" "0" "90" "5" "218472" "218472" "subst" "8.51774E-6" "01804" "CCDC127_000006" "g.218472T>A" "" "" "" "SDHA(NM_004168.2):c.2T>A (p.(?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001046027" "0" "10" "5" "256514" "256514" "subst" "0.000239605" "02326" "SDHA_000106" "g.256514G>C" "" "" "" "SDHA(NM_001294332.1):c.1830G>C (p.(Pro610=)), SDHA(NM_004168.4):c.1974G>C (p.P658=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001047158" "0" "30" "5" "256433" "256436" "del" "0" "03779" "SDHA_000207" "g.256433_256436del" "" "" "" "" "" "Unknown" "" "rs2126645630" "0" "" "" "" "" "likely benign" "" "0001047238" "0" "10" "5" "226090" "226090" "subst" "0.00257445" "03779" "SDHA_000045" "g.226090C>T" "" "" "" "" "" "Unknown" "" "rs61733344" "0" "" "" "" "" "benign" "" "0001047239" "0" "30" "5" "231042" "231042" "subst" "0.00490873" "03779" "SDHA_000051" "g.231042C>T" "" "" "" "" "" "Unknown" "" "rs34771391" "0" "" "" "" "" "likely benign" "" "0001047293" "0" "10" "5" "223646" "223646" "subst" "0.0352978" "03779" "SDHA_000009" "g.223646A>T" "" "" "" "" "" "Unknown" "" "rs34635677" "0" "" "" "" "" "benign" "" "0001048380" "0" "10" "5" "233665" "233665" "subst" "0.00726839" "03779" "SDHA_000053" "g.233665C>T" "" "" "" "" "" "Unknown" "" "rs142849100" "0" "" "" "" "" "benign" "" "0001048440" "0" "30" "5" "254340" "254340" "subst" "0" "03779" "SDHA_000208" "g.254340C>T" "" "" "" "" "" "Unknown" "" "rs573662252" "0" "" "" "" "" "likely benign" "" "0001048653" "0" "30" "5" "236695" "236695" "subst" "0.00262642" "03779" "SDHA_000094" "g.236695C>T" "" "" "" "" "" "Unknown" "" "rs34779890" "0" "" "" "" "" "likely benign" "" "0001048654" "0" "30" "5" "236695" "236695" "subst" "0.00262642" "03779" "SDHA_000094" "g.236695C>T" "" "" "" "" "" "Unknown" "" "rs34779890" "0" "" "" "" "" "likely benign" "" "0001048987" "0" "30" "5" "254457" "254457" "subst" "0" "03779" "SDHA_000211" "g.254457T>C" "" "" "" "" "" "Unknown" "" "rs371773898" "0" "" "" "" "" "likely benign" "" "0001049005" "0" "30" "5" "235232" "235232" "subst" "0.00118342" "03779" "SDHA_000209" "g.235232G>A" "" "" "" "" "" "Unknown" "" "rs142152138" "0" "" "" "" "" "likely benign" "" "0001049007" "0" "30" "5" "235611" "235611" "subst" "0" "03779" "SDHA_000210" "g.235611G>A" "" "" "" "" "" "Unknown" "" "rs189251379" "0" "" "" "" "" "likely benign" "" "0001049105" "0" "90" "5" "240574" "240574" "subst" "3.26139E-5" "03779" "SDHA_000151" "g.240574C>T" "" "" "" "" "" "Unknown" "" "rs748089700" "0" "" "" "" "" "pathogenic" "" "0001049308" "0" "30" "5" "256367" "256367" "subst" "0" "03779" "SDHA_000212" "g.256367G>C" "" "" "" "" "" "Unknown" "" "rs1737171587" "0" "" "" "" "" "likely benign" "" "0001051895" "0" "50" "5" "251201" "251201" "subst" "0" "01804" "SDHA_000213" "g.251201T>C" "" "" "" "SDHA(NM_004168.4):c.1646T>C (p.(Leu549Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051896" "0" "30" "5" "251445" "251445" "subst" "0.00346628" "01804" "SDHA_000131" "g.251445G>A" "" "" "" "SDHA(NM_001294332.1):c.1520-8G>A (p.(=)), SDHA(NM_004168.4):c.1664-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001051897" "0" "50" "5" "251560" "251560" "subst" "4.88146E-5" "01804" "SDHA_000214" "g.251560G>A" "" "" "" "SDHA(NM_004168.4):c.1771G>A (p.(Ala591Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SDHA ## Count = 359 "{{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}}" "0000064193" "00018570" "50" "1908" "126" "1908" "126" "c.1908+126C>T" "r.(=)" "p.(=)" "" "0000064194" "00018570" "50" "1334" "0" "1334" "0" "c.1334C>T" "r.(?)" "p.(Ser445Leu)" "" "0000064195" "00018570" "50" "1414" "0" "1414" "0" "c.1414G>A" "r.(?)" "p.(Glu472Lys)" "" "0000116372" "00018570" "95" "64" "-2" "64" "-2" "c.64-2A>G" "r.[64_73del, r.63_64ins64-54_64-1;64-2a>g]" "p.(=)" "1i" "0000116373" "00018570" "95" "64" "-2" "64" "-2" "c.64-2A>G" "r.[64_73del, r.63_64ins64-54_64-1;64-2a>g]" "p.(=)" "1i" "0000116374" "00018570" "95" "1065" "-3" "1065" "-3" "c.1065-3C>A" "r.1065_1260del" "p.(=)" "8i" "0000116375" "00018570" "95" "1065" "-3" "1065" "-3" "c.1065-3C>A" "r.1065_1260del" "p.(=)" "8i" "0000116376" "00018570" "55" "1" "0" "1" "0" "c.1A>C" "r.(?)" "p.(Met1?)" "1" "0000116377" "00018570" "77" "91" "0" "91" "0" "c.91C>T" "r.(?)" "p.(Arg31*)" "2" "0000116378" "00018570" "77" "91" "0" "91" "0" "c.91C>T" "r.(?)" "p.(Arg31*)" "2" "0000116379" "00018570" "55" "91" "0" "91" "0" "c.91C>T" "r.91c>u" "p.(Arg31*)" "2" "0000116380" "00018570" "11" "113" "0" "113" "0" "c.113A>T" "r.(?)" "p.(Asp38Val)" "2" "0000116381" "00018570" "55" "248" "0" "248" "0" "c.248C>T" "r.(?)" "p.(Ala83Val)" "3" "0000116382" "00018570" "95" "248" "0" "248" "0" "c.248C>T" "r.247_312del" "p.(Ala83Val)" "3" "0000116383" "00018570" "55" "356" "0" "356" "0" "c.356G>A" "r.(?)" "p.(Trp119*)" "4" "0000116384" "00018570" "95" "356" "0" "356" "0" "c.356G>A" "r.(?)" "p.(Trp119*)" "4" "0000116385" "00018570" "77" "511" "0" "511" "0" "c.511C>T" "r.(?)" "p.(Arg171Cys)" "5" "0000116386" "00018570" "95" "565" "0" "565" "0" "c.565T>G" "r.565u>g" "p.(Cys189Gly)" "5" "0000116387" "00018570" "55" "1255" "0" "1255" "0" "c.1255G>A" "r.(?)" "p.(Gly419Arg)" "9" "0000116388" "00018570" "77" "1151" "0" "1151" "0" "c.1151C>G" "r.(?)" "p.(Ser384*)" "9" "0000116389" "00018570" "55" "1351" "0" "1351" "0" "c.1351C>T" "r.(?)" "p.(Arg451Cys)" "10" "0000116390" "00018570" "55" "1571" "0" "1571" "0" "c.1571C>T" "r.(?)" "p.(Ala524Val)" "12" "0000116391" "00018570" "55" "1660" "0" "1660" "0" "c.1660C>T" "r.(?)" "p.(Arg554Trp)" "12" "0000116392" "00018570" "55" "1660" "0" "1660" "0" "c.1660C>T" "r.(?)" "p.(Arg554Trp)" "12" "0000116393" "00018570" "55" "1664" "0" "1664" "0" "c.1664G>A" "r.(?)" "p.(Gly555Glu)" "12" "0000116394" "00018570" "55" "1664" "0" "1664" "0" "c.1664G>A" "r.(?)" "p.(Gly555Glu)" "12" "0000116395" "00018570" "99" "1664" "0" "1664" "0" "c.1664G>A" "r.(?)" "p.(Gly555Glu)" "12" "0000116396" "00018570" "55" "1664" "0" "1664" "0" "c.1664G>A" "r.(?)" "p.(Gly555Glu)" "12" "0000116397" "00018570" "55" "1690" "0" "1690" "0" "c.1690G>A" "r.(?)" "p.(Glu564Lys)" "13" "0000116398" "00018570" "77" "1753" "0" "1753" "0" "c.1753C>T" "r.(?)" "p.(Arg585Trp)" "13" "0000116399" "00018570" "99" "1765" "0" "1765" "0" "c.1765C>T" "r.(?)" "p.(Arg589Trp)" "13" "0000116400" "00018570" "77" "1765" "0" "1765" "0" "c.1765C>T" "r.(?)" "p.(Arg589Trp)" "13" "0000116401" "00018570" "11" "1886" "0" "1886" "0" "c.1886A>T" "r.(?)" "p.(Tyr629Phe)" "13" "0000116402" "00018570" "11" "1919" "0" "1919" "0" "c.1919A>G" "r.(?)" "p.(Glu640Gly)" "13" "0000116403" "00018570" "11" "1969" "0" "1969" "0" "c.1969G>A" "r.(?)" "p.(Val657Ile)" "13" "0000128197" "00018570" "50" "117" "0" "117" "0" "c.117del" "r.(?)" "p.(Asn40Thrfs*18)" "2" "0000128198" "00018570" "50" "136" "0" "136" "0" "c.136A>G" "r.(?)" "p.(Lys46Glu)" "2" "0000128199" "00018570" "70" "91" "0" "91" "0" "c.91C>T" "r.(?)" "p.(Arg31*)" "2" "0000128200" "00018570" "50" "221" "0" "221" "0" "c.221dup" "r.(?)" "p.(Leu74Phefs*9)" "3" "0000128201" "00018570" "50" "223" "0" "223" "0" "c.223C>T" "r.(?)" "p.(Arg75*)" "3" "0000128202" "00018570" "50" "394" "0" "394" "0" "c.394T>C" "r.(?)" "p.(Trp132Arg)" "4" "0000128203" "00018570" "50" "457" "-2" "457" "0" "c.457-2_457del" "r.spl?" "p.?" "4i_5" "0000128204" "00018570" "50" "484" "0" "484" "0" "c.484A>T" "r.(?)" "p.(Arg162*)" "5" "0000128205" "00018570" "50" "511" "0" "511" "0" "c.511C>T" "r.(?)" "p.(Arg171Cys)" "5" "0000128206" "00018570" "50" "549" "0" "549" "0" "c.549C>T" "r.(=)" "p.(=)" "5" "0000128207" "00018570" "50" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188Trp)" "5" "0000128208" "00018570" "50" "629" "0" "629" "0" "c.629G>A" "r.(?)" "p.(Arg210Gln)" "6" "0000128209" "00018570" "50" "724" "0" "735" "0" "c.724_735del" "r.(?)" "p.(Gly242_His245del)" "6" "0000128210" "00018570" "50" "767" "0" "767" "0" "c.767C>T" "r.(?)" "p.(Thr256Ile)" "6" "0000128211" "00018570" "50" "818" "0" "818" "0" "c.818C>T" "r.(?)" "p.(Thr273Ile)" "7" "0000128212" "00018570" "50" "822" "0" "822" "0" "c.822C>T" "r.(=)" "p.(=)" "7" "0000128213" "00018570" "50" "1002" "0" "1002" "0" "c.1002G>A" "r.(=)" "p.(=)" "8" "0000128214" "00018570" "50" "1046" "0" "1047" "0" "c.1046_1047del" "r.(?)" "p.(Leu349Argfs*11)" "8" "0000128215" "00018570" "50" "923" "0" "923" "0" "c.923C>T" "r.(?)" "p.(Thr308Met)" "8" "0000128216" "00018570" "50" "969" "0" "969" "0" "c.969C>T" "r.(=)" "p.(=)" "8" "0000128217" "00018570" "50" "988" "0" "989" "0" "c.988_989dup" "r.(?)" "p.(Ala331Thrfs*18)" "8" "0000128218" "00018570" "50" "1273" "0" "1273" "0" "c.1273G>A" "r.(?)" "p.(Val425Met)" "10" "0000128219" "00018570" "50" "1334" "0" "1334" "0" "c.1334C>T" "r.(?)" "p.(Ser445Leu)" "10" "0000128220" "00018570" "50" "1338" "0" "1338" "0" "c.1338del" "r.(?)" "p.(His447Metfs*23)" "10" "0000128221" "00018570" "50" "1340" "0" "1340" "0" "c.1340A>G" "r.(?)" "p.(His447Arg)" "10" "0000128222" "00018570" "50" "1357" "0" "1357" "0" "c.1357G>A" "r.(?)" "p.(Gly453Arg)" "10" "0000128223" "00018570" "50" "1361" "0" "1361" "0" "c.1361C>A" "r.(?)" "p.(Ala454Glu)" "10" "0000128224" "00018570" "50" "1471" "0" "1471" "0" "c.1471G>T" "r.(?)" "p.(Glu491*)" "11" "0000128225" "00018570" "50" "1523" "0" "1523" "0" "c.1523C>T" "r.(?)" "p.(Thr508Ile)" "11" "0000128226" "00018570" "50" "1526" "0" "1526" "0" "c.1526C>T" "r.(?)" "p.(Ser509Leu)" "11" "0000128227" "00018570" "50" "1623" "0" "1623" "0" "c.1623G>A" "r.(?)" "p.(=)" "12" "0000128228" "00018570" "70" "1753" "0" "1753" "0" "c.1753C>T" "r.(?)" "p.(Arg585Trp)" "13" "0000128229" "00018570" "50" "1766" "0" "1766" "0" "c.1766G>A" "r.(=)" "p.(Arg589Gln)" "13" "0000128230" "00018570" "50" "1776" "0" "1776" "0" "c.1776T>C" "r.(?)" "p.(=)" "13" "0000128231" "00018570" "50" "1794" "0" "1794" "0" "c.1794G>C" "r.(?)" "p.(Lys598Asn)" "13" "0000128232" "00018570" "50" "1795" "-1" "1795" "-1" "c.1795-1G>T" "r.(?)" "p.(=)" "12i" "0000128233" "00018570" "50" "1799" "0" "1799" "0" "c.1799G>A" "r.(?)" "p.(Arg600Gln)" "13" "0000128234" "00018570" "50" "1865" "0" "1865" "0" "c.1865G>A" "r.(?)" "p.(Trp622*)" "13" "0000128235" "00018570" "50" "1873" "0" "1873" "0" "c.1873C>T" "r.(?)" "p.(His625Tyr)" "13" "0000150743" "00018570" "77" "91" "0" "91" "0" "c.91C>T" "r.(?)" "p.(Arg31*)" "2" "0000150744" "00018570" "77" "295" "0" "295" "0" "c.295C>T" "r.(?)" "p.(His99Tyr)" "3" "0000248954" "00018570" "10" "1886" "0" "1886" "0" "c.1886A>T" "r.(?)" "p.(Tyr629Phe)" "" "0000249067" "00018570" "10" "771" "-11" "771" "-11" "c.771-11A>G" "r.(=)" "p.(=)" "" "0000249692" "00018570" "90" "64" "-2" "64" "-2" "c.64-2A>G" "r.spl?" "p.?" "" "0000251060" "00018570" "10" "113" "0" "113" "0" "c.113A>T" "r.(?)" "p.(Asp38Val)" "" "0000251872" "00018570" "30" "955" "0" "955" "0" "c.955A>C" "r.(?)" "p.(Ile319Leu)" "" "0000256035" "00018570" "50" "739" "0" "739" "0" "c.739A>G" "r.(?)" "p.(Ile247Val)" "" "0000298048" "00018570" "10" "2008" "0" "2008" "0" "c.*13T>C" "r.(=)" "p.(=)" "" "0000298049" "00018570" "10" "2009" "0" "2009" "0" "c.*14G>A" "r.(=)" "p.(=)" "" "0000298050" "00018570" "30" "1260" "12" "1260" "12" "c.1260+12G>A" "r.(=)" "p.(=)" "" "0000298051" "00018570" "30" "1274" "0" "1274" "0" "c.1274T>G" "r.(?)" "p.(Val425Gly)" "" "0000298052" "00018570" "10" "1367" "0" "1367" "0" "c.1367C>T" "r.(?)" "p.(Ser456Leu)" "" "0000298053" "00018570" "30" "1368" "0" "1368" "0" "c.1368G>A" "r.(?)" "p.(Ser456=)" "" "0000298054" "00018570" "10" "1396" "0" "1396" "0" "c.1396G>A" "r.(?)" "p.(Ala466Thr)" "" "0000298055" "00018570" "30" "1623" "0" "1623" "0" "c.1623G>A" "r.(?)" "p.(Lys541=)" "" "0000298056" "00018570" "90" "1660" "0" "1660" "0" "c.1660C>T" "r.(?)" "p.(Arg554Trp)" "" "0000298057" "00018570" "50" "1799" "0" "1799" "0" "c.1799G>A" "r.(?)" "p.(Arg600Gln)" "" "0000298058" "00018570" "10" "1909" "-12" "1909" "-11" "c.1909-12_1909-11del" "r.(=)" "p.(=)" "" "0000298059" "00018570" "10" "1911" "0" "1911" "0" "c.1911C>T" "r.(?)" "p.(Val637=)" "" "0000298060" "00018570" "10" "1932" "0" "1932" "0" "c.1932G>A" "r.(?)" "p.(Val644=)" "" "0000298061" "00018570" "30" "1945" "0" "1946" "0" "c.1945_1946del" "r.(?)" "p.(Leu649GlufsTer4)" "" "0000298062" "00018570" "30" "1968" "0" "1968" "0" "c.1968C>T" "r.(?)" "p.(Thr656=)" "" "0000298063" "00018570" "10" "1974" "0" "1974" "0" "c.1974G>C" "r.(?)" "p.(Pro658=)" "" "0000298064" "00018570" "50" "224" "0" "224" "0" "c.224G>A" "r.(?)" "p.(Arg75Gln)" "" "0000298065" "00018570" "10" "313" "-16" "313" "-16" "c.313-16T>G" "r.(=)" "p.(=)" "" "0000298066" "00018570" "30" "313" "-19" "313" "-19" "c.313-19G>T" "r.(=)" "p.(=)" "" "0000298067" "00018570" "30" "456" "20" "456" "20" "c.456+20G>C" "r.(=)" "p.(=)" "" "0000298068" "00018570" "10" "622" "-13" "622" "-13" "c.622-13del" "r.(=)" "p.(=)" "" "0000298069" "00018570" "30" "622" "-8" "622" "-8" "c.622-8T>C" "r.(=)" "p.(=)" "" "0000298070" "00018570" "30" "723" "0" "723" "0" "c.723C>T" "r.(?)" "p.(Asp241=)" "" "0000298071" "00018570" "10" "891" "0" "891" "0" "c.891T>C" "r.(?)" "p.(Pro297=)" "" "0000298072" "00018570" "50" "991" "0" "991" "0" "c.991G>A" "r.(?)" "p.(Ala331Thr)" "" "0000299356" "00018570" "30" "1074" "0" "1074" "0" "c.1074C>T" "r.(?)" "p.(Gly358=)" "" "0000299357" "00018570" "10" "1305" "0" "1305" "0" "c.1305G>T" "r.(?)" "p.(Leu435=)" "" "0000299358" "00018570" "30" "133" "0" "133" "0" "c.133G>A" "r.(?)" "p.(Ala45Thr)" "" "0000299359" "00018570" "30" "1413" "0" "1413" "0" "c.1413C>T" "r.(?)" "p.(Ile471=)" "" "0000299360" "00018570" "30" "1432" "20" "1432" "20" "c.1432+20G>C" "r.(=)" "p.(=)" "" "0000299361" "00018570" "70" "150" "1" "150" "1" "c.150+1G>A" "r.spl?" "p.?" "" "0000299362" "00018570" "30" "1611" "0" "1611" "0" "c.1611G>A" "r.(?)" "p.(Gly537=)" "" "0000299363" "00018570" "30" "1623" "0" "1623" "0" "c.1623G>A" "r.(?)" "p.(Lys541=)" "" "0000299364" "00018570" "10" "1776" "0" "1776" "0" "c.1776T>C" "r.(?)" "p.(His592=)" "" "0000299365" "00018570" "30" "17" "0" "17" "0" "c.17G>A" "r.(?)" "p.(Gly6Asp)" "" "0000299366" "00018570" "10" "1909" "-12" "1909" "-11" "c.1909-12_1909-11del" "r.(=)" "p.(=)" "" "0000299367" "00018570" "30" "1911" "0" "1911" "0" "c.1911C>T" "r.(?)" "p.(Val637=)" "" "0000299368" "00018570" "10" "1945" "0" "1946" "0" "c.1945_1946del" "r.(?)" "p.(Leu649GlufsTer4)" "" "0000299369" "00018570" "10" "1974" "0" "1974" "0" "c.1974G>C" "r.(?)" "p.(Pro658=)" "" "0000299370" "00018570" "30" "313" "-19" "313" "-19" "c.313-19G>T" "r.(=)" "p.(=)" "" "0000299371" "00018570" "10" "456" "20" "456" "20" "c.456+20G>C" "r.(=)" "p.(=)" "" "0000299372" "00018570" "10" "549" "0" "549" "0" "c.549C>T" "r.(?)" "p.(Gly183=)" "" "0000299373" "00018570" "10" "550" "0" "550" "0" "c.550G>A" "r.(?)" "p.(Gly184Arg)" "" "0000299374" "00018570" "30" "723" "0" "723" "0" "c.723C>T" "r.(?)" "p.(Asp241=)" "" "0000299375" "00018570" "30" "770" "19" "770" "23" "c.770+19_770+23del" "r.(=)" "p.(=)" "" "0000299376" "00018570" "10" "822" "0" "822" "0" "c.822C>T" "r.(?)" "p.(Gly274=)" "" "0000299377" "00018570" "90" "91" "0" "91" "0" "c.91C>T" "r.(?)" "p.(Arg31Ter)" "" "0000299378" "00018570" "10" "969" "0" "969" "0" "c.969C>T" "r.(?)" "p.(Gly323=)" "" "0000301996" "00018570" "30" "2084" "0" "2084" "0" "c.*89G>A" "r.(=)" "p.(=)" "" "0000301997" "00018570" "30" "1414" "0" "1414" "0" "c.1414G>A" "r.(?)" "p.(Glu472Lys)" "" "0000301998" "00018570" "10" "1776" "0" "1776" "0" "c.1776T>C" "r.(?)" "p.(His592=)" "" "0000301999" "00018570" "50" "1777" "0" "1777" "0" "c.1777G>A" "r.(?)" "p.(Ala593Thr)" "" "0000302000" "00018570" "30" "1909" "-12" "1909" "-11" "c.1909-12_1909-11del" "r.(=)" "p.(=)" "" "0000302001" "00018570" "30" "1945" "0" "1946" "0" "c.1945_1946del" "r.(?)" "p.(Leu649GlufsTer4)" "" "0000302002" "00018570" "10" "312" "20" "312" "20" "c.312+20C>T" "r.(=)" "p.(=)" "" "0000302003" "00018570" "30" "622" "-13" "622" "-13" "c.622-13del" "r.(=)" "p.(=)" "" "0000302004" "00018570" "30" "622" "-31" "622" "-31" "c.622-31C>T" "r.(=)" "p.(=)" "" "0000307855" "00018570" "10" "549" "0" "549" "0" "c.549C>T" "r.(?)" "p.(Gly183=)" "" "0000307856" "00018570" "30" "723" "0" "723" "0" "c.723C>T" "r.(?)" "p.(Asp241=)" "" "0000307857" "00018570" "90" "91" "0" "91" "0" "c.91C>T" "r.(?)" "p.(Arg31Ter)" "" "0000330232" "00018570" "50" "163" "0" "163" "0" "c.163T>C" "r.(?)" "p.(Tyr55His)" "" "0000330235" "00018570" "30" "456" "6" "456" "6" "c.456+6G>T" "r.(=)" "p.(=)" "" "0000330236" "00018570" "50" "550" "0" "550" "0" "c.550G>A" "r.(?)" "p.(Gly184Arg)" "" "0000330240" "00018570" "30" "1945" "0" "1946" "0" "c.1945_1946del" "r.(?)" "p.(Leu649GlufsTer4)" "" "0000337510" "00018570" "30" "-80" "0" "-80" "0" "c.-80C>T" "r.(?)" "p.(=)" "" "0000337511" "00018570" "30" "-27" "0" "-27" "0" "c.-27C>G" "r.(?)" "p.(=)" "" "0000337512" "00018570" "30" "-7" "0" "-7" "0" "c.-7A>C" "r.(?)" "p.(=)" "" "0000337513" "00018570" "10" "-4" "0" "-4" "0" "c.-4A>G" "r.(?)" "p.(=)" "" "0000337532" "00018570" "30" "313" "-19" "313" "-19" "c.313-19G>T" "r.(=)" "p.(=)" "" "0000337533" "00018570" "10" "456" "20" "456" "20" "c.456+20G>C" "r.(=)" "p.(=)" "" "0000337554" "00018570" "10" "771" "-11" "771" "-11" "c.771-11A>G" "r.(=)" "p.(=)" "" "0000337595" "00018570" "30" "1551" "16" "1551" "16" "c.1551+16C>T" "r.(=)" "p.(=)" "" "0000337618" "00018570" "70" "1663" "3" "1663" "3" "c.1663+3G>C" "r.spl?" "p.?" "" "0000337619" "00018570" "10" "1664" "-34" "1664" "-34" "c.1664-34C>T" "r.(=)" "p.(=)" "" "0000337620" "00018570" "10" "1664" "-8" "1664" "-8" "c.1664-8G>A" "r.(=)" "p.(=)" "" "0000337628" "00018570" "10" "1908" "15" "1908" "15" "c.1908+15C>T" "r.(=)" "p.(=)" "" "0000339192" "00018570" "10" "1305" "0" "1305" "0" "c.1305G>T" "r.(?)" "p.(Leu435=)" "" "0000339669" "00018570" "10" "-115" "0" "-115" "0" "c.-115T>C" "r.(?)" "p.(=)" "" "0000339690" "00018570" "10" "309" "0" "309" "0" "c.309A>G" "r.(?)" "p.(Ala103=)" "" "0000339691" "00018570" "10" "549" "0" "549" "0" "c.549C>T" "r.(?)" "p.(Gly183=)" "" "0000339692" "00018570" "10" "619" "0" "619" "0" "c.619A>C" "r.(?)" "p.(Arg207=)" "" "0000339698" "00018570" "10" "684" "0" "684" "0" "c.684T>C" "r.(?)" "p.(Asn228=)" "" "0000339703" "00018570" "10" "822" "0" "822" "0" "c.822C>T" "r.(?)" "p.(Gly274=)" "" "0000339704" "00018570" "10" "891" "0" "891" "0" "c.891T>C" "r.(?)" "p.(Pro297=)" "" "0000339707" "00018570" "10" "896" "-20" "896" "-20" "c.896-20A>G" "r.(=)" "p.(=)" "" "0000339709" "00018570" "30" "969" "0" "969" "0" "c.969C>T" "r.(?)" "p.(Gly323=)" "" "0000339710" "00018570" "10" "1038" "0" "1038" "0" "c.1038C>G" "r.(?)" "p.(Ser346=)" "" "0000339714" "00018570" "10" "1170" "0" "1170" "0" "c.1170C>T" "r.(?)" "p.(Phe390=)" "" "0000339717" "00018570" "30" "1368" "0" "1368" "0" "c.1368G>A" "r.(?)" "p.(Ser456=)" "" "0000339718" "00018570" "30" "1413" "0" "1413" "0" "c.1413C>T" "r.(?)" "p.(Ile471=)" "" "0000339758" "00018570" "30" "1623" "0" "1623" "0" "c.1623G>A" "r.(?)" "p.(Lys541=)" "" "0000339759" "00018570" "10" "1680" "0" "1680" "0" "c.1680G>A" "r.(?)" "p.(Thr560=)" "" "0000339760" "00018570" "10" "1752" "0" "1752" "0" "c.1752A>G" "r.(?)" "p.(Ala584=)" "" "0000339768" "00018570" "10" "1932" "0" "1932" "0" "c.1932G>A" "r.(?)" "p.(Val644=)" "" "0000340965" "00018570" "30" "1527" "0" "1527" "0" "c.1527G>A" "r.(?)" "p.(Ser509=)" "" "0000341006" "00018570" "30" "801" "0" "801" "0" "c.801G>A" "r.(?)" "p.(Thr267=)" "" "0000341511" "00018570" "50" "1778" "0" "1778" "0" "c.1778C>T" "r.(?)" "p.(Ala593Val)" "" "0000342601" "00018570" "90" "91" "0" "91" "0" "c.91C>T" "r.(?)" "p.(Arg31Ter)" "" "0000342645" "00018570" "90" "985" "0" "985" "0" "c.985C>T" "r.(?)" "p.(Arg329Ter)" "" "0000343137" "00018570" "90" "1753" "0" "1753" "0" "c.1753C>T" "r.(?)" "p.(Arg585Trp)" "" "0000344080" "00018570" "10" "113" "0" "113" "0" "c.113A>T" "r.(?)" "p.(Asp38Val)" "" "0000346179" "00018570" "70" "1768" "0" "1768" "0" "c.1768G>A" "r.(?)" "p.(Gly590Ser)" "" "0000348358" "00018570" "50" "889" "0" "889" "0" "c.889C>T" "r.(?)" "p.(Pro297Ser)" "" "0000350087" "00018570" "50" "1250" "0" "1250" "0" "c.1250A>G" "r.(?)" "p.(Tyr417Cys)" "" "0000350155" "00018570" "10" "1886" "0" "1886" "0" "c.1886A>T" "r.(?)" "p.(Tyr629Phe)" "" "0000350625" "00018570" "10" "1969" "0" "1969" "0" "c.1969G>A" "r.(?)" "p.(Val657Ile)" "" "0000455426" "00018570" "70" "1945" "0" "1946" "0" "c.1945_1946del" "r.(?)" "p.(Leu649Glufs*4)" "15" "0000525500" "00018570" "30" "-7" "0" "-7" "0" "c.-7A>C" "r.(?)" "p.(=)" "" "0000525501" "00018570" "30" "10" "0" "10" "0" "c.10G>A" "r.(?)" "p.(Val4Ile)" "" "0000525502" "00018570" "90" "91" "0" "91" "0" "c.91C>T" "r.(?)" "p.(Arg31Ter)" "" "0000525503" "00018570" "50" "92" "0" "92" "0" "c.92G>A" "r.(?)" "p.(Arg31Gln)" "" "0000525504" "00018570" "10" "113" "0" "113" "0" "c.113A>T" "r.(?)" "p.(Asp38Val)" "" "0000525505" "00018570" "10" "550" "0" "550" "0" "c.550G>A" "r.(?)" "p.(Gly184Arg)" "" "0000525506" "00018570" "10" "621" "60" "621" "60" "c.621+60T>C" "r.(=)" "p.(=)" "" "0000525507" "00018570" "30" "622" "-7" "622" "-7" "c.622-7C>T" "r.(=)" "p.(=)" "" "0000525508" "00018570" "50" "679" "0" "679" "0" "c.679G>A" "r.(?)" "p.(Glu227Lys)" "" "0000525509" "00018570" "30" "723" "0" "723" "0" "c.723C>T" "r.(?)" "p.(Asp241=)" "" "0000525510" "00018570" "50" "806" "0" "806" "0" "c.806C>T" "r.(?)" "p.(Ala269Val)" "" "0000525511" "00018570" "30" "1002" "0" "1002" "0" "c.1002G>A" "r.(?)" "p.(Ala334=)" "" "0000525512" "00018570" "30" "1115" "0" "1115" "0" "c.1115C>G" "r.(?)" "p.(Pro372Arg)" "" "0000525513" "00018570" "30" "1305" "0" "1305" "0" "c.1305G>T" "r.(?)" "p.(Leu435=)" "" "0000525514" "00018570" "30" "1335" "0" "1335" "0" "c.1335G>T" "r.(?)" "p.(Ser445=)" "" "0000525515" "00018570" "50" "1337" "0" "1337" "0" "c.1337T>C" "r.(?)" "p.(Val446Ala)" "" "0000525517" "00018570" "30" "1410" "0" "1410" "0" "c.1410C>T" "r.(?)" "p.(Ser470=)" "" "0000525518" "00018570" "30" "1415" "0" "1415" "0" "c.1415A>C" "r.(?)" "p.(Glu472Ala)" "" "0000525519" "00018570" "10" "1432" "39" "1432" "39" "c.1432+39C>T" "r.(=)" "p.(=)" "" "0000525520" "00018570" "10" "1432" "46" "1432" "46" "c.1432+46C>A" "r.(=)" "p.(=)" "" "0000525521" "00018570" "30" "1461" "0" "1461" "0" "c.1461C>T" "r.(?)" "p.(Asn487=)" "" "0000525522" "00018570" "90" "1534" "0" "1534" "0" "c.1534C>T" "r.(?)" "p.(Arg512Ter)" "" "0000525523" "00018570" "30" "1551" "16" "1551" "16" "c.1551+16C>T" "r.(=)" "p.(=)" "" "0000525524" "00018570" "10" "1551" "16" "1551" "16" "c.1551+16C>T" "r.(=)" "p.(=)" "" "0000525525" "00018570" "30" "1623" "0" "1623" "0" "c.1623G>A" "r.(?)" "p.(Lys541=)" "" "0000525526" "00018570" "10" "1664" "-8" "1664" "-8" "c.1664-8G>A" "r.(=)" "p.(=)" "" "0000525527" "00018570" "50" "1794" "0" "1794" "0" "c.1794G>A" "r.(?)" "p.(Lys598=)" "" "0000525528" "00018570" "50" "1799" "0" "1799" "0" "c.1799G>A" "r.(?)" "p.(Arg600Gln)" "" "0000525529" "00018570" "30" "1894" "0" "1894" "0" "c.1894G>A" "r.(?)" "p.(Val632Ile)" "" "0000525530" "00018570" "50" "1909" "-12" "1909" "-11" "c.1909-12_1909-11del" "r.(=)" "p.(=)" "" "0000525531" "00018570" "30" "1974" "0" "1974" "0" "c.1974G>C" "r.(?)" "p.(Pro658=)" "" "0000595712" "00018570" "90" "91" "0" "91" "0" "c.91C>T" "r.(?)" "p.(Arg31*)" "" "0000595713" "00018570" "90" "91" "0" "91" "0" "c.91C>T" "r.(?)" "p.(Arg31*)" "" "0000609684" "00018570" "90" "64" "-2" "64" "-2" "c.64-2A>G" "r.spl?" "p.?" "" "0000609685" "00018570" "90" "91" "0" "91" "0" "c.91C>T" "r.(?)" "p.(Arg31Ter)" "" "0000609686" "00018570" "30" "695" "0" "695" "0" "c.695G>A" "r.(?)" "p.(Arg232His)" "" "0000609687" "00018570" "50" "1055" "0" "1055" "0" "c.1055G>A" "r.(?)" "p.(Arg352Gln)" "" "0000609688" "00018570" "30" "1368" "0" "1368" "0" "c.1368G>A" "r.(?)" "p.(Ser456=)" "" "0000609689" "00018570" "50" "1664" "-3" "1664" "-3" "c.1664-3C>A" "r.spl?" "p.?" "" "0000609690" "00018570" "10" "1911" "0" "1911" "0" "c.1911C>T" "r.(?)" "p.(Val637=)" "" "0000621557" "00018570" "50" "133" "0" "133" "0" "c.133G>A" "r.(?)" "p.(Ala45Thr)" "" "0000621558" "00018570" "30" "1074" "0" "1074" "0" "c.1074C>T" "r.(?)" "p.(Gly358=)" "" "0000647113" "00018570" "90" "91" "0" "91" "0" "c.91C>T" "r.(?)" "p.(Arg31*)" "" "0000651692" "00018570" "30" "163" "0" "163" "0" "c.163T>C" "r.(?)" "p.(Tyr55His)" "" "0000651693" "00018570" "50" "818" "0" "818" "0" "c.818C>T" "r.(?)" "p.(Thr273Ile)" "" "0000655368" "00018570" "30" "133" "0" "133" "0" "c.133G>A" "r.(?)" "p.(Ala45Thr)" "" "0000655369" "00018570" "10" "619" "0" "619" "0" "c.619A>C" "r.(?)" "p.(Arg207=)" "" "0000665326" "00018570" "90" "91" "0" "91" "0" "c.91C>T" "r.(?)" "p.(Arg31*)" "" "0000677494" "00018570" "30" "831" "0" "831" "0" "c.831G>A" "r.(?)" "p.(Thr277=)" "" "0000677495" "00018570" "30" "1396" "0" "1396" "0" "c.1396G>A" "r.(?)" "p.(Ala466Thr)" "" "0000677496" "00018570" "50" "1908" "5" "1908" "5" "c.1908+5G>A" "r.spl?" "p.?" "" "0000689502" "00018570" "50" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Cys231Phe)" "" "0000689503" "00018570" "50" "1796" "0" "1796" "0" "c.1796T>C" "r.(?)" "p.(Val599Ala)" "" "0000704341" "00018570" "50" "1025" "0" "1025" "0" "c.1025T>G" "r.(?)" "p.(Val342Gly)" "" "0000720390" "00018570" "30" "146" "0" "146" "0" "c.146A>G" "r.(?)" "p.(Asp49Gly)" "" "0000720391" "00018570" "70" "151" "-1" "151" "-1" "c.151-1G>A" "r.spl?" "p.?" "" "0000720392" "00018570" "50" "1115" "0" "1115" "0" "c.1115C>G" "r.(?)" "p.(Pro372Arg)" "" "0000720393" "00018570" "30" "1523" "0" "1523" "0" "c.1523C>T" "r.(?)" "p.(Thr508Ile)" "" "0000720394" "00018570" "70" "1535" "0" "1535" "0" "c.1535G>A" "r.(?)" "p.(Arg512Gln)" "" "0000720395" "00018570" "70" "1753" "0" "1753" "0" "c.1753C>T" "r.(?)" "p.(Arg585Trp)" "" "0000720396" "00018570" "50" "1936" "0" "1936" "0" "c.1936G>A" "r.(?)" "p.(Asp646Asn)" "" "0000787391" "00018570" "50" "205" "0" "205" "0" "c.205G>A" "r.(?)" "p.(Ala69Thr)" "3" "0000787610" "00018570" "50" "1177" "0" "1177" "0" "c.1177G>T" "r.(?)" "p.(Val393Leu)" "9" "0000790045" "00018570" "70" "1352" "0" "1352" "0" "c.1352G>A" "r.(?)" "p.(Arg451His)" "" "0000802060" "00018570" "70" "150" "1" "150" "1" "c.150+1G>A" "r.spl?" "p.?" "" "0000802061" "00018570" "50" "613" "0" "613" "0" "c.613T>C" "r.(?)" "p.(Tyr205His)" "" "0000802062" "00018570" "10" "622" "-13" "622" "-13" "c.622-13del" "r.(=)" "p.(=)" "" "0000802063" "00018570" "30" "1623" "0" "1623" "0" "c.1623G>A" "r.(?)" "p.(Lys541=)" "" "0000830286" "00018570" "70" "778" "0" "778" "0" "c.778G>A" "r.(?)" "p.(Gly260Arg)" "" "0000850886" "00018570" "10" "684" "0" "684" "0" "c.684T>C" "r.(?)" "p.(Asn228=)" "" "0000850887" "00018570" "30" "723" "0" "723" "0" "c.723C>T" "r.(?)" "p.(Asp241=)" "" "0000850888" "00018570" "30" "1065" "-43" "1065" "-43" "c.1065-43G>A" "r.(=)" "p.(=)" "" "0000850889" "00018570" "70" "1766" "0" "1766" "0" "c.1766G>A" "r.(?)" "p.(Arg589Gln)" "" "0000859903" "00018570" "30" "622" "-8" "622" "-8" "c.622-8T>C" "r.(=)" "p.(=)" "" "0000859904" "00018570" "50" "629" "0" "629" "0" "c.629G>T" "r.(?)" "p.(Arg210Leu)" "" "0000859905" "00018570" "30" "1368" "0" "1368" "0" "c.1368G>A" "r.(?)" "p.(Ser456=)" "" "0000859906" "00018570" "30" "1551" "16" "1551" "16" "c.1551+16C>T" "r.(=)" "p.(=)" "" "0000869075" "00018570" "70" "1808" "0" "1808" "0" "c.1808A>G" "r.(?)" "p.(Glu603Gly)" "" "0000886788" "00018570" "50" "92" "0" "92" "0" "c.92G>A" "r.(?)" "p.(Arg31Gln)" "" "0000886789" "00018570" "30" "313" "-19" "313" "-19" "c.313-19G>T" "r.(=)" "p.(=)" "" "0000886790" "00018570" "30" "313" "-19" "313" "-19" "c.313-19G>T" "r.(=)" "p.(=)" "" "0000886791" "00018570" "30" "456" "20" "456" "20" "c.456+20G>C" "r.(=)" "p.(=)" "" "0000886792" "00018570" "30" "969" "0" "969" "0" "c.969C>T" "r.(?)" "p.(Gly323=)" "" "0000886793" "00018570" "30" "999" "0" "999" "0" "c.999C>G" "r.(?)" "p.(Val333=)" "" "0000886794" "00018570" "30" "1002" "0" "1002" "0" "c.1002G>A" "r.(?)" "p.(Ala334=)" "" "0000886795" "00018570" "30" "1002" "0" "1002" "0" "c.1002G>A" "r.(?)" "p.(Ala334=)" "" "0000886796" "00018570" "30" "1064" "8" "1064" "9" "c.1064+8_1064+9dup" "r.(=)" "p.(=)" "" "0000886797" "00018570" "30" "1233" "0" "1233" "0" "c.1233C>T" "r.(?)" "p.(Gly411=)" "" "0000886798" "00018570" "10" "1368" "0" "1368" "0" "c.1368G>A" "r.(?)" "p.(Ser456=)" "" "0000886799" "00018570" "90" "1432" "0" "1432" "1" "c.1432_1432+1del" "r.spl?" "p.?" "" "0000886800" "00018570" "30" "1795" "-19" "1795" "-19" "c.1795-19A>G" "r.(=)" "p.(=)" "" "0000886801" "00018570" "10" "1911" "0" "1911" "0" "c.1911C>T" "r.(?)" "p.(Val637=)" "" "0000912310" "00018570" "50" "935" "0" "935" "0" "c.935G>A" "r.(?)" "p.(Arg312His)" "" "0000912311" "00018570" "30" "1795" "-19" "1795" "-19" "c.1795-19A>G" "r.(=)" "p.(=)" "" "0000912312" "00018570" "90" "1887" "0" "1887" "0" "c.1887T>A" "r.(?)" "p.(Tyr629*)" "" "0000917056" "00018570" "90" "554" "0" "554" "0" "c.554dup" "r.(?)" "p.(Ala186GlyfsTer9)" "" "0000924326" "00018570" "90" "667" "0" "667" "0" "c.667del" "r.(?)" "p.(Asp223Ilefs*3)" "" "0000924327" "00018570" "30" "1664" "-4" "1664" "-4" "c.1664-4C>G" "r.spl?" "p.?" "" "0000924328" "00018570" "30" "1909" "-12" "1909" "-11" "c.1909-12_1909-11del" "r.(=)" "p.(=)" "" "0000924329" "00018570" "50" "1979" "0" "1979" "0" "c.1979C>G" "r.(?)" "p.(Ala660Gly)" "" "0000929064" "00018570" "30" "107" "0" "107" "0" "c.107C>T" "r.(?)" "p.(Thr36Ile)" "" "0000929065" "00018570" "50" "901" "0" "901" "0" "c.901T>C" "r.(?)" "p.(Tyr301His)" "" "0000929066" "00018570" "30" "1002" "0" "1002" "0" "c.1002G>A" "r.(?)" "p.(Ala334=)" "" "0000929067" "00018570" "30" "1089" "0" "1089" "0" "c.1089C>T" "r.(?)" "p.(=)" "" "0000929068" "00018570" "90" "1432" "0" "1432" "1" "c.1432_1432+1del" "r.spl?" "p.?" "" "0000933316" "00018570" "50" "133" "0" "133" "0" "c.133G>A" "r.(?)" "p.(Ala45Thr)" "" "0000948543" "00018570" "50" "391" "0" "391" "0" "c.391G>A" "r.(?)" "p.(Asp131Asn)" "" "0000948544" "00018570" "50" "665" "0" "665" "0" "c.665T>C" "r.(?)" "p.(Leu222Ser)" "" "0000948545" "00018570" "30" "705" "0" "705" "0" "c.705C>T" "r.(?)" "p.(=)" "" "0000957822" "00018570" "90" "1765" "0" "1765" "0" "c.1765C>T" "r.(?)" "p.(Arg589Trp)" "" "0000957848" "00018570" "70" "1346" "0" "1346" "0" "c.1346C>T" "r.(?)" "p.(Ala449Val)" "" "0000957890" "00018570" "70" "830" "0" "830" "0" "c.830C>T" "r.(?)" "p.(Thr277Met)" "" "0000963588" "00018570" "30" "133" "0" "133" "0" "c.133G>A" "r.(?)" "p.(Ala45Thr)" "" "0000963589" "00018570" "10" "312" "20" "312" "20" "c.312+20C>T" "r.(=)" "p.(=)" "" "0000963590" "00018570" "50" "955" "0" "955" "0" "c.955A>C" "r.(?)" "p.(Ile319Leu)" "" "0000963591" "00018570" "30" "1074" "0" "1074" "0" "c.1074C>T" "r.(?)" "p.(Gly358=)" "" "0000963593" "00018570" "30" "1368" "0" "1368" "0" "c.1368G>A" "r.(?)" "p.(Ser456=)" "" "0000976763" "00018570" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.?" "" "0000976764" "00018570" "30" "63" "8" "63" "8" "c.63+8C>T" "r.(=)" "p.(=)" "" "0000976765" "00018570" "50" "428" "0" "428" "0" "c.428C>T" "r.(?)" "p.(Thr143Met)" "" "0000976766" "00018570" "50" "584" "0" "584" "0" "c.584G>A" "r.(?)" "p.(Arg195Gln)" "" "0000976767" "00018570" "30" "723" "0" "723" "0" "c.723C>T" "r.(?)" "p.(Asp241=)" "" "0000976768" "00018570" "50" "985" "0" "985" "0" "c.985C>G" "r.(?)" "p.(Arg329Gly)" "" "0000976769" "00018570" "50" "1055" "0" "1055" "0" "c.1055G>A" "r.(?)" "p.(Arg352Gln)" "" "0000976770" "00018570" "50" "1055" "0" "1055" "0" "c.1055G>A" "r.(?)" "p.(Arg352Gln)" "" "0000976771" "00018570" "50" "1367" "0" "1367" "0" "c.1367C>T" "r.(?)" "p.(Ser456Leu)" "" "0000984921" "00018570" "90" "223" "0" "223" "0" "c.223C>T" "r.(?)" "p.(Arg75*)" "" "0000994987" "00018570" "50" "155" "0" "155" "0" "c.155C>T" "r.(?)" "p.(Ser52Phe)" "" "0000994988" "00018570" "50" "250" "0" "250" "0" "c.250G>A" "r.(?)" "p.(Gly84Arg)" "" "0000994989" "00018570" "50" "661" "0" "661" "0" "c.661G>A" "r.(?)" "p.(Ala221Thr)" "" "0000994990" "00018570" "30" "801" "0" "801" "0" "c.801G>A" "r.(?)" "p.(Thr267=)" "" "0000994991" "00018570" "10" "1523" "0" "1523" "0" "c.1523C>T" "r.(?)" "p.(Thr508Ile)" "" "0000994992" "00018570" "50" "1652" "0" "1652" "0" "c.1652C>T" "r.(?)" "p.(Thr551Met)" "" "0000994993" "00018570" "50" "1718" "0" "1718" "0" "c.1718T>C" "r.(?)" "p.(Leu573Pro)" "" "0000994994" "00018570" "90" "1795" "-3" "1795" "-3" "c.1795-3C>G" "r.spl?" "p.?" "" "0000994995" "00018570" "30" "2008" "0" "2008" "0" "c.*13T>C" "r.(=)" "p.(=)" "" "0001014120" "00018570" "50" "312" "20" "312" "20" "c.312+20C>T" "r.(=)" "p.(=)" "" "0001014121" "00018570" "30" "372" "0" "372" "0" "c.372C>T" "r.(?)" "p.(=)" "" "0001014122" "00018570" "50" "872" "0" "872" "0" "c.872A>C" "r.(?)" "p.(Glu291Ala)" "" "0001014123" "00018570" "30" "918" "0" "918" "0" "c.918C>G" "r.(?)" "p.(=)" "" "0001014124" "00018570" "50" "1183" "0" "1183" "0" "c.1183G>T" "r.(?)" "p.(Val395Phe)" "" "0001022497" "00018570" "70" "1256" "0" "1256" "0" "c.1256G>A" "r.(?)" "p.(Gly419Glu)" "" "0001022565" "00018570" "50" "991" "0" "991" "0" "c.991G>A" "r.(?)" "p.(Ala331Thr)" "" "0001025087" "00018570" "10" "17" "0" "17" "0" "c.17G>A" "r.(?)" "p.(Gly6Asp)" "" "0001025088" "00018570" "50" "985" "0" "985" "0" "c.985C>G" "r.(?)" "p.(Arg329Gly)" "" "0001025089" "00018570" "30" "1664" "-24" "1664" "-24" "c.1664-24del" "r.(=)" "p.(=)" "" "0001025090" "00018570" "70" "1795" "-3" "1795" "-3" "c.1795-3C>G" "r.spl?" "p.?" "" "0001035167" "00018570" "30" "136" "0" "136" "0" "c.136A>G" "r.(?)" "p.(Lys46Glu)" "" "0001035168" "00018570" "50" "1034" "0" "1034" "0" "c.1034G>A" "r.(?)" "p.(Arg345Gln)" "" "0001035169" "00018570" "50" "1352" "0" "1352" "0" "c.1352G>A" "r.(?)" "p.(Arg451His)" "" "0001035170" "00018570" "50" "1367" "0" "1367" "0" "c.1367C>T" "r.(?)" "p.(Ser456Leu)" "" "0001035171" "00018570" "30" "1371" "0" "1371" "0" "c.1371C>A" "r.(?)" "p.(=)" "" "0001046026" "00018570" "90" "2" "0" "2" "0" "c.2T>A" "r.(?)" "p.?" "" "0001046027" "00018570" "10" "1974" "0" "1974" "0" "c.1974G>C" "r.(?)" "p.(Pro658=)" "" "0001047158" "00018570" "30" "1909" "-16" "1909" "-13" "c.1909-16_1909-13del" "r.(?)" "p.(?)" "" "0001047238" "00018570" "10" "549" "0" "549" "0" "c.549C>T" "r.(?)" "p.(Gly183=)" "" "0001047239" "00018570" "30" "822" "0" "822" "0" "c.822C>T" "r.(?)" "p.(Gly274=)" "" "0001047293" "00018570" "10" "113" "0" "113" "0" "c.113A>T" "r.(?)" "p.(Asp38Val)" "" "0001048380" "00018570" "10" "969" "0" "969" "0" "c.969C>T" "r.(?)" "p.(Gly323=)" "" "0001048440" "00018570" "30" "1795" "-168" "1795" "-168" "c.1795-168C>T" "r.(?)" "p.(?)" "" "0001048653" "00018570" "30" "1413" "0" "1413" "0" "c.1413C>T" "r.(?)" "p.(Ile471=)" "" "0001048654" "00018570" "30" "1413" "0" "1413" "0" "c.1413C>T" "r.(?)" "p.(Ile471=)" "" "0001048987" "00018570" "30" "1795" "-51" "1795" "-51" "c.1795-51T>C" "r.(?)" "p.(?)" "" "0001049005" "00018570" "30" "1065" "-27" "1065" "-27" "c.1065-27G>A" "r.(?)" "p.(?)" "" "0001049007" "00018570" "30" "1260" "157" "1260" "157" "c.1260+157G>A" "r.(?)" "p.(?)" "" "0001049105" "00018570" "90" "1534" "0" "1534" "0" "c.1534C>T" "r.(?)" "p.(Arg512Ter)" "" "0001049308" "00018570" "30" "1909" "-82" "1909" "-82" "c.1909-82G>C" "r.(?)" "p.(?)" "" "0001051895" "00018570" "50" "1646" "0" "1646" "0" "c.1646T>C" "r.(?)" "p.(Leu549Pro)" "" "0001051896" "00018570" "30" "1664" "-8" "1664" "-8" "c.1664-8G>A" "r.(=)" "p.(=)" "" "0001051897" "00018570" "50" "1771" "0" "1771" "0" "c.1771G>A" "r.(?)" "p.(Ala591Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 95 "{{screeningid}}" "{{variantid}}" "0000037068" "0000064193" "0000037069" "0000064194" "0000037070" "0000064195" "0000072514" "0000116376" "0000072514" "0000116390" "0000072515" "0000116381" "0000072515" "0000116383" "0000072516" "0000116389" "0000072517" "0000116391" "0000072517" "0000116392" "0000072518" "0000116393" "0000072518" "0000116394" "0000073120" "0000116399" "0000073121" "0000116380" "0000073122" "0000116401" "0000073123" "0000116403" "0000073124" "0000116402" "0000073142" "0000116395" "0000073226" "0000116377" "0000073227" "0000116398" "0000073228" "0000116378" "0000073228" "0000116400" "0000073229" "0000116388" "0000073230" "0000116396" "0000073241" "0000116385" "0000073242" "0000116387" "0000073243" "0000116397" "0000073253" "0000116379" "0000073253" "0000116386" "0000073254" "0000116374" "0000073254" "0000116375" "0000073256" "0000116382" "0000073256" "0000116384" "0000079446" "0000128225" "0000079446" "0000128226" "0000079448" "0000128224" "0000079449" "0000128211" "0000079449" "0000128222" "0000079450" "0000128203" "0000079464" "0000128202" "0000079465" "0000128233" "0000079466" "0000128234" "0000079466" "0000128235" "0000079474" "0000128209" "0000079474" "0000128217" "0000079493" "0000128197" "0000079493" "0000128200" "0000079494" "0000128204" "0000079494" "0000128221" "0000079495" "0000128223" "0000079500" "0000128210" "0000079501" "0000128219" "0000079502" "0000128231" "0000079503" "0000128232" "0000079504" "0000128207" "0000079506" "0000128214" "0000079507" "0000128205" "0000079507" "0000128229" "0000079514" "0000128220" "0000079515" "0000128227" "0000079516" "0000128228" "0000079517" "0000128230" "0000079520" "0000128198" "0000079524" "0000128199" "0000079526" "0000128206" "0000079527" "0000128212" "0000079528" "0000128213" "0000079529" "0000128215" "0000079530" "0000128218" "0000079537" "0000128201" "0000079538" "0000128208" "0000079539" "0000128216" "0000092417" "0000150743" "0000092418" "0000150744" "0000220247" "0000455426" "0000265134" "0000595712" "0000265137" "0000595713" "0000290448" "0000647113" "0000295003" "0000651692" "0000295004" "0000651693" "0000302213" "0000665326" "0000321483" "0000704341" "0000376040" "0000787391" "0000376040" "0000787610" "0000377640" "0000790045" "0000398078" "0000830286" "0000411838" "0000869075" "0000431770" "0000917056" "0000437879" "0000933316" "0000448415" "0000957822" "0000448416" "0000957890" "0000448441" "0000957848" "0000451144" "0000984921" "0000462910" "0001022497" "0000462910" "0001022565"