### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SDHAF2) # 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}}" "SDHAF2" "succinate dehydrogenase complex assembly factor 2" "11" "q12.2" "unknown" "NG_023393.1" "UD_132119063082" "" "http://www.LOVD.nl/SDHAF2" "" "1" "26034" "54949" "613019" "1" "1" "1" "1" "Using Mutalyzer? (https://mutalyzer.nl/normalizer/) Make sure to use this gene-transcript configuration: NG_023393.1(NM_017841.2):\r\n\r\nA VUS in PPGL/HNPGL?\r\nIn the opinion of the curator the use of the term “VUS” is now excessive. In the case of rare diseases with variants in known causative genes, the emphasis should not be conservative (as in common conditions) but should assume causation and seek supportive evidence (conservation, protein region affected, in silico prediction tools, number of time reported in patients and in gnomAD). Only when no supporting evidence is found should one use the term “VUS”.\r\n\r\nCITATION: if you benefit from the use of this database and publish findings, please cite; Bayley JP, Devilee P, Taschner PE (2005). BMC Med Genet. 6:39\r\n\r\nThe variants included in the database were derived from the published literature or submitted directly and, where necessary, annotated to conform to current HGVS mutation nomenclature. When you notice any omissions or mistakes, please let us know (thank you).\r\n\r\nDisclaimer: inclusion of sequence variants in the SDH mutation database does not imply that there is convincing evidence for pathogenicity." "" "g" "http://databases.lovd.nl/shared/refseq/SDHAF2_codingDNA.html" "1" "" "LUMC SDHAF2 gene variant database\r\n
\r\n
" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "01713" "2023-01-20 15:25:04" "00000" "2025-08-07 11:21:03" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00018572" "SDHAF2" "succinate dehydrogenase complex assembly factor 2" "001" "NM_017841.2" "" "NP_060311.1" "" "" "" "-22" "1197" "501" "61197597" "61214239" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "02382" "PGL2" "paragangliomas, type 2 (PGL-2)" "AD" "601650" "" "" "" "00006" "2014-09-25 23:29:40" "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" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SDHAF2" "02382" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00072986" "" "" "" "2" "" "01713" "" "Dutch Founder Mutation,Spanish recurrent mutation; 2 families 53 affected; 1 isolated case" "" "" "Netherlands" "" "0" "" "" "" "" "00072987" "" "" "" "1" "" "01713" "" "Dutch SNP; 1 isolated case" "" "" "" "" "0" "" "" "" "" "00072988" "" "" "" "0" "" "01713" "" "1 family 2 affected" "" "" "Belgium" "" "0" "" "" "" "" "00073091" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Italy" "" "0" "" "" "" "" "00073092" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Italy" "" "0" "" "" "" "" "00073100" "" "" "" "1" "" "01663" "" "" "" "" "" "" "0" "" "" "" "" "00079380" "" "" "" "2" "" "01713" "{PMID:Casey:24712571}" "" "" "" "Ireland" "" "0" "" "" "" "" "00079445" "" "" "" "1" "" "01713" "{PMID:Rattenberry:23666964}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00079467" "" "" "" "1" "" "01713" "{PMID:Dénes:25494863}" "" "" "" "" "" "0" "" "" "" "" "00176985" "" "" "" "1" "" "02552" "" "" "F" "no" "Switzerland" "" "0" "" "" "" "69986" "00295540" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00072986" "05085" "00072987" "05085" "00072988" "05085" "00073091" "05085" "00073092" "05085" "00073100" "05085" "00079380" "05085" "00079445" "05085" "00079467" "05085" "00176985" "00344" "00295540" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00344, 02382, 05085 ## Count = 12 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Cancer/Sub_type}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000052677" "05085" "00072986" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000052678" "05085" "00072987" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000052679" "05085" "00072988" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB" "" "" "" "0000052783" "05085" "00073091" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-JT" "" "" "" "0000052784" "05085" "00073092" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-CB" "" "" "" "0000052792" "05085" "00073100" "01663" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL-EA" "" "" "" "0000059101" "05085" "00079380" "01713" "Unknown" "" "GJT;CBT" "" "" "" "" "" "" "" "" "" "" "" "" "0000059169" "05085" "00079445" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059191" "05085" "00079467" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000141809" "00841" "00176985" "02552" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000141820" "00344" "00176985" "02552" "Familial, autosomal recessive" "" "Muscular hypotonia of the trunk (HP:0008936); Spastic paraparesis (HP:0002313); Horizontal pendular nystagmus (HP:0007811); Esotropia (HP:0000565); Abnormality of ocular smooth pursuit (HP:0000617)" "00y07m" "" "" "" "" "" "" "" "" "" "" "" "0000223105" "00198" "00295540" "01164" "Unknown" "" "Neoplasm of the lung (HP:0100526); Bronchial neoplasm (HP:0030077)" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000073143" "00072986" "1" "01713" "01713" "2010-09-10 10:15:57" "" "" "SEQ" "DNA" "" "" "0000073144" "00072987" "1" "01713" "01713" "2010-09-10 11:22:40" "" "" "SEQ" "DNA" "" "" "0000073145" "00072988" "1" "01713" "01713" "2010-09-10 11:25:03" "" "" "SEQ" "DNA" "" "" "0000073248" "00073091" "1" "01713" "01713" "2012-03-27 14:14:59" "" "" "SEQ" "DNA" "" "" "0000073249" "00073092" "1" "01713" "01713" "2012-03-27 14:21:07" "" "" "SEQ" "DNA" "" "" "0000073257" "00073100" "1" "01663" "01663" "2014-03-31 10:42:54" "" "" "SEQ" "DNA" "" "" "0000079453" "00079380" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079518" "00079445" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ-NG" "DNA" "" "" "0000079540" "00079467" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000177875" "00176985" "1" "02552" "02552" "2018-08-14 15:17:21" "02552" "2018-08-15 14:05:14" "SEQ-NG-I" "DNA" "blood" "WES" "0000296710" "00295540" "1" "01164" "01164" "2020-03-18 10:47:19" "" "" "SEQ-NG-S" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000073143" "SDHAF2" "0000073144" "SDHAF2" "0000073145" "SDHAF2" "0000073248" "SDHAF2" "0000073249" "SDHAF2" "0000073257" "SDHAF2" "0000079453" "SDHAF2" "0000079518" "SDHAF2" "0000079540" "SDHAF2" ## 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 = 31 "{{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}}" "0000116404" "0" "11" "11" "61205199" "61205199" "subst" "2.43722E-5" "01713" "SDHAF2_000002" "g.61205199A>G" "SNP" "{PMID: Bayley:20071235}" "" "" "" "Germline" "" "" "0" "" "" "g.61437727A>G" "" "benign" "" "0000116405" "0" "55" "11" "61205211" "61205211" "subst" "0" "01663" "SDHAF2_000005" "g.61205211C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.61437739C>G" "" "VUS" "" "0000116406" "0" "99" "11" "61205292" "61205292" "subst" "0" "01713" "SDHAF2_000001" "g.61205292G>A" "" "{PMID: Hao:19628817}, {PMID: Bayley: 20071235}, {PMID:Piccini:22241717}" "" "" "" "Germline" "" "" "0" "" "" "g.61437820G>A" "" "pathogenic" "" "0000116407" "0" "99" "11" "61205292" "61205292" "subst" "0" "01713" "SDHAF2_000001" "g.61205292G>A" "" "{PMID:Piccini:22241717}" "" "" "" "Germline" "" "" "0" "" "" "g.61437820G>A" "" "pathogenic" "" "0000116408" "0" "11" "11" "61205489" "61205489" "subst" "0" "01713" "SDHAF2_000003" "g.61205489G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.61438017G>A" "" "benign" "" "0000116409" "0" "77" "11" "61205570" "61205570" "dup" "0" "01713" "SDHAF2_000004" "g.61205570dup" "" "{PMID:Piccini:22241717}" "" "c.357_358insT / p.Tyr119LeufsX7" "" "Germline" "" "" "0" "" "" "g.61438098dup" "" "likely pathogenic" "" "0000128236" "1" "50" "11" "61213555" "61213555" "subst" "0.00510581" "01713" "SDHAF2_000008" "g.61213555C>T" "" "{PMID:Casey:24712571}" "" "" "" "Unknown" "" "" "0" "" "" "g.61446083C>T" "" "VUS" "" "0000128237" "1" "50" "11" "61205534" "61205534" "subst" "0.000190854" "01713" "SDHAF2_000007" "g.61205534C>T" "" "{PMID:Rattenberry:23666964}" "" "c.[319C>T];[=]" "VUS" "Unknown" "" "" "0" "" "" "g.61438062C>T" "" "VUS" "" "0000128238" "1" "50" "11" "61197567" "61197567" "subst" "0" "01713" "SDHAF2_000006" "g.61197567T>C" "" "{PMID:Dénes:25494863}" "" "" "" "Unknown" "" "" "0" "" "" "g.61430095T>C" "" "VUS" "" "0000249158" "0" "10" "11" "61204361" "61204361" "subst" "0" "02325" "SDHAF2_000010" "g.61204361A>C" "" "" "" "SDHAF2(NM_017841.4):c.37-736A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61436889A>C" "" "benign" "" "0000299379" "0" "10" "11" "61197671" "61197671" "subst" "0.0013033" "02329" "SDHAF2_000009" "g.61197671T>C" "" "" "" "SDHAF2(NM_017841.4):c.36+17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61430199T>C" "" "benign" "" "0000299380" "0" "30" "11" "61205157" "61205157" "subst" "0.000475162" "02329" "SDHAF2_000011" "g.61205157C>T" "" "" "" "SDHAF2(NM_017841.4):c.97C>T (p.R33C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61437685C>T" "" "likely benign" "" "0000299381" "0" "30" "11" "61205158" "61205158" "subst" "1.62454E-5" "02329" "SDHAF2_000012" "g.61205158G>A" "" "" "" "SDHAF2(NM_017841.4):c.98G>A (p.R33H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61437686G>A" "" "likely benign" "" "0000338482" "0" "10" "11" "61197664" "61197664" "subst" "0.00340734" "02327" "SDHAF2_000013" "g.61197664G>A" "" "" "" "SDHAF2(NM_017841.2):c.36+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61430192G>A" "" "benign" "" "0000338483" "0" "10" "11" "61205434" "61205434" "subst" "0.831763" "02327" "SDHAF2_000015" "g.61205434G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61437962G>A" "" "benign" "" "0000338490" "0" "10" "11" "61213555" "61213555" "subst" "0.00510581" "02327" "SDHAF2_000008" "g.61213555C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61446083C>T" "" "benign" "" "0000346271" "0" "90" "11" "61205292" "61205292" "subst" "0" "02327" "SDHAF2_000014" "g.61205292G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61437820G>C" "" "pathogenic" "" "0000346272" "0" "90" "11" "61205292" "61205292" "subst" "0" "02327" "SDHAF2_000001" "g.61205292G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61437820G>A" "" "pathogenic" "" "0000347848" "0" "30" "11" "61205199" "61205199" "subst" "2.43722E-5" "02327" "SDHAF2_000002" "g.61205199A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61437727A>G" "" "likely benign" "" "0000406016" "0" "50" "11" "61205299" "61205299" "subst" "1.23002E-5" "02552" "SDHAF2_000016" "g.61205299T>C" "" "{PMID:Papuc 2019:30552426}" "" "" "" "De novo" "" "rs376560419" "0" "" "" "g.61437827T>C" "" "VUS" "" "0000544685" "0" "10" "11" "61205343" "61205343" "subst" "0.0171154" "02327" "SDHAF2_000017" "g.61205343T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61437871T>C" "" "benign" "" "0000544686" "0" "50" "11" "61205545" "61205545" "subst" "8.12176E-6" "01804" "SDHAF2_000018" "g.61205545C>A" "" "" "" "SDHAF2(NM_017841.2):c.330C>A (p.(Asn110Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61438073C>A" "" "VUS" "" "0000613467" "0" "50" "11" "61205229" "61205229" "subst" "8.13081E-6" "02325" "SDHAF2_000019" "g.61205229G>A" "" "" "" "SDHAF2(NM_017841.4):c.169G>A (p.E57K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61437757G>A" "" "VUS" "" "0000653406" "0" "70" "11" "61205551" "61205552" "ins" "0" "01164" "SDHAF2_000020" "g.61205551_61205552insGATT" "" "" "" "" "ACMG: PVS1,PM2" "Germline" "" "" "0" "" "" "g.61438079_61438080insGATT" "" "likely pathogenic" "ACMG" "0000805211" "0" "30" "11" "61205158" "61205158" "subst" "1.62454E-5" "02327" "SDHAF2_000012" "g.61205158G>A" "" "" "" "SDHAF2(NM_017841.4):c.98G>A (p.R33H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862601" "0" "10" "11" "61197664" "61197664" "subst" "0.00340734" "02326" "SDHAF2_000013" "g.61197664G>A" "" "" "" "SDHAF2(NM_017841.2):c.36+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000889998" "0" "30" "11" "61205157" "61205157" "subst" "0.000475162" "02327" "SDHAF2_000011" "g.61205157C>T" "" "" "" "SDHAF2(NM_017841.4):c.97C>T (p.R33C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026037" "0" "50" "11" "61213532" "61213532" "subst" "1.62435E-5" "02329" "SDHAF2_000021" "g.61213532A>G" "" "" "" "SDHAF2(NM_017841.4):c.490A>G (p.K164E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047169" "0" "10" "11" "61205343" "61205343" "subst" "0.0171154" "03779" "SDHAF2_000017" "g.61205343T>C" "" "" "" "" "" "Unknown" "" "rs112606325" "0" "" "" "" "" "benign" "" "0001047226" "0" "30" "11" "61205343" "61205343" "subst" "0.0171154" "03779" "SDHAF2_000017" "g.61205343T>C" "" "" "" "" "" "Unknown" "" "rs112606325" "0" "" "" "" "" "likely benign" "" "0001047227" "0" "30" "11" "61205343" "61205343" "subst" "0.0171154" "03779" "SDHAF2_000017" "g.61205343T>C" "" "" "" "" "" "Unknown" "" "rs112606325" "0" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SDHAF2 ## Count = 31 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/SIFT}}" "{{VariantOnTranscript/Consequence/Predicted}}" "0000116404" "00018572" "11" "139" "0" "139" "0" "c.139A>G" "r.(?)" "p.(Met47Val)" "3" "" "" "0000116405" "00018572" "55" "151" "0" "151" "0" "c.151C>G" "r.(?)" "p.(Pro51Ala)" "3" "0" "" "0000116406" "00018572" "99" "232" "0" "232" "0" "c.232G>A" "r.(?)" "p.(Gly78Arg)" "3" "0" "" "0000116407" "00018572" "99" "232" "0" "232" "0" "c.232G>A" "r.(?)" "p.(Gly78Arg)" "3" "0" "" "0000116408" "00018572" "11" "274" "0" "274" "0" "c.274G>A" "r.(?)" "p.(Glu92Lys)" "4" "0" "" "0000116409" "00018572" "77" "355" "0" "355" "0" "c.355dup" "r.(?)" "p.(Tyr119Leufs*8)" "4" "" "" "0000128236" "00018572" "50" "513" "0" "513" "0" "c.*12C>T" "r.(=)" "p.(=)" "5" "" "" "0000128237" "00018572" "50" "319" "0" "319" "0" "c.319C>T" "r.(=)" "p.(=)" "4" "" "" "0000128238" "00018572" "50" "-52" "0" "-52" "0" "c.-52T>C" "r.(=)" "p.(=)" "1i" "" "" "0000249158" "00018572" "10" "37" "-736" "37" "-736" "c.37-736A>C" "r.(=)" "p.(=)" "" "" "" "0000299379" "00018572" "10" "36" "17" "36" "17" "c.36+17T>C" "r.(=)" "p.(=)" "" "" "" "0000299380" "00018572" "30" "97" "0" "97" "0" "c.97C>T" "r.(?)" "p.(Arg33Cys)" "" "" "" "0000299381" "00018572" "30" "98" "0" "98" "0" "c.98G>A" "r.(?)" "p.(Arg33His)" "" "" "" "0000338482" "00018572" "10" "36" "10" "36" "10" "c.36+10G>A" "r.(=)" "p.(=)" "" "" "" "0000338483" "00018572" "10" "261" "-42" "261" "-42" "c.261-42G>A" "r.(=)" "p.(=)" "" "" "" "0000338490" "00018572" "10" "513" "0" "513" "0" "c.*12C>T" "r.(=)" "p.(=)" "" "" "" "0000346271" "00018572" "90" "232" "0" "232" "0" "c.232G>C" "r.(?)" "p.(Gly78Arg)" "" "" "" "0000346272" "00018572" "90" "232" "0" "232" "0" "c.232G>A" "r.(?)" "p.(Gly78Arg)" "" "" "" "0000347848" "00018572" "30" "139" "0" "139" "0" "c.139A>G" "r.(?)" "p.(Met47Val)" "" "" "" "0000406016" "00018572" "50" "239" "0" "239" "0" "c.239T>C" "r.(?)" "p.(Leu80Ser)" "" "" "" "0000544685" "00018572" "10" "260" "23" "260" "23" "c.260+23T>C" "r.(=)" "p.(=)" "" "" "" "0000544686" "00018572" "50" "330" "0" "330" "0" "c.330C>A" "r.(?)" "p.(Asn110Lys)" "" "" "" "0000613467" "00018572" "50" "169" "0" "169" "0" "c.169G>A" "r.(?)" "p.(Glu57Lys)" "" "" "" "0000653406" "00018572" "70" "336" "0" "337" "0" "c.336_337insGATT" "r.(?)" "p.(Ser113Aspfs*2)" "" "" "" "0000805211" "00018572" "30" "98" "0" "98" "0" "c.98G>A" "r.(?)" "p.(Arg33His)" "" "" "" "0000862601" "00018572" "10" "36" "10" "36" "10" "c.36+10G>A" "r.(=)" "p.(=)" "" "" "" "0000889998" "00018572" "30" "97" "0" "97" "0" "c.97C>T" "r.(?)" "p.(Arg33Cys)" "" "" "" "0001026037" "00018572" "50" "490" "0" "490" "0" "c.490A>G" "r.(?)" "p.(Lys164Glu)" "" "" "" "0001047169" "00018572" "10" "260" "23" "260" "23" "c.260+23T>C" "r.(?)" "p.(?)" "" "" "" "0001047226" "00018572" "30" "260" "23" "260" "23" "c.260+23T>C" "r.(?)" "p.(?)" "" "" "" "0001047227" "00018572" "30" "260" "23" "260" "23" "c.260+23T>C" "r.(?)" "p.(?)" "" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000073143" "0000116406" "0000073144" "0000116404" "0000073145" "0000116408" "0000073248" "0000116407" "0000073249" "0000116409" "0000073257" "0000116405" "0000079453" "0000128236" "0000079518" "0000128237" "0000079540" "0000128238" "0000177875" "0000406016" "0000296710" "0000653406"