### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PPP2CA) # 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}}" "PPP2CA" "protein phosphatase 2, catalytic subunit, alpha isozyme" "5" "q31.1" "unknown" "NG_046997.1" "UD_132610636103" "" "https://www.LOVD.nl/PPP2CA" "" "1" "9299" "5515" "176915" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-01-12 19:58:18" "00000" "2025-07-17 06:50:03" ## 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}}" "00016692" "PPP2CA" "protein phosphatase 2, catalytic subunit, alpha isozyme" "001" "NM_002715.2" "" "NP_002706.1" "" "" "" "-398" "2245" "930" "133561950" "133532148" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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" "06675" "NEDLBA" "Neurodevelopmental disorder and language delay with or without structural brain abnormalities" "AD" "618354" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PPP2CA" "06675" ## Individuals ## Do not remove or alter this header ## ## Count = 17 "{{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}}" "00050575" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00213476" "" "" "" "1" "" "00006" "{PMID:Reynhout 2019:30595372}" "" "M" "" "" "" "0" "" "" "" "30595372-Pat1" "00213477" "" "" "" "1" "" "00006" "{PMID:Reynhout 2019:30595372}" "" "F" "" "" "" "0" "" "" "" "30595372-Pat2" "00213478" "" "" "" "1" "" "00006" "{PMID:Reynhout 2019:30595372}" "" "M" "" "" "" "0" "" "" "" "30595372-Pat3" "00213479" "" "" "" "1" "" "00006" "{PMID:Reynhout 2019:30595372}" "" "M" "" "" "" "0" "" "" "" "30595372-Pat4" "00213480" "" "" "" "3" "" "00006" "{PMID:Reynhout 2019:30595372}" "" "F" "" "" "" "0" "" "" "" "30595372-Pat5" "00213481" "" "" "" "1" "" "00006" "{PMID:Reynhout 2019:30595372}" "" "F" "" "" "" "0" "" "" "" "30595372-Pat6" "00213482" "" "" "" "1" "" "00006" "{PMID:Reynhout 2019:30595372}" "" "F" "" "" "" "0" "" "" "" "30595372-Pat7" "00213483" "" "" "" "1" "" "00006" "{PMID:Reynhout 2019:30595372}" "" "F" "" "" "" "0" "" "" "" "30595372-Pat8" "00213484" "" "" "" "1" "" "00006" "{PMID:Reynhout 2019:30595372}" "" "M" "" "" "" "0" "" "" "" "30595372-Pat9" "00213485" "" "" "" "1" "" "00006" "{PMID:Reynhout 2019:30595372}" "" "F" "" "" "" "0" "" "" "" "30595372-Pat10" "00213486" "" "" "" "1" "" "00006" "{PMID:Reynhout 2019:30595372}" "" "M" "" "" "" "0" "" "" "" "30595372-Pat11" "00213487" "" "" "" "1" "" "00006" "{PMID:Reynhout 2019:30595372}" "" "M" "" "" "" "0" "" "" "" "30595372-Pat12" "00213488" "" "" "" "1" "" "00006" "{PMID:Reynhout 2019:30595372}" "" "M" "" "" "" "0" "" "" "" "30595372-Pat13" "00213489" "" "" "" "1" "" "00006" "{PMID:Reynhout 2019:30595372}" "" "F" "" "" "" "0" "" "" "" "30595372-Pat14" "00213490" "" "" "" "1" "" "00006" "{PMID:Reynhout 2019:30595372}" "" "M" "" "" "" "0" "" "" "" "30595372-Pat15" "00213491" "" "" "" "1" "" "00006" "{PMID:Reynhout 2019:30595372}" "" "M" "" "" "" "0" "" "" "" "30595372-Pat16" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 17 "{{individualid}}" "{{diseaseid}}" "00050575" "00198" "00213476" "00139" "00213477" "00139" "00213478" "00139" "00213479" "00139" "00213480" "00139" "00213481" "00139" "00213482" "00139" "00213483" "00139" "00213484" "00139" "00213485" "00139" "00213486" "00139" "00213487" "00139" "00213488" "00139" "00213489" "00139" "00213490" "00139" "00213491" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 06675 ## Count = 17 "{{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/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000037187" "00198" "00050575" "00006" "Isolated (sporadic)" "" "intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "0000161939" "00139" "00213476" "00006" "Isolated (sporadic)" "6y" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000161940" "00139" "00213477" "00006" "Isolated (sporadic)" "7y" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000161941" "00139" "00213478" "00006" "Isolated (sporadic)" "13y" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000161942" "00139" "00213479" "00006" "Isolated (sporadic)" "3y10m" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000161943" "00139" "00213480" "00006" "Isolated (sporadic)" "19y" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000161944" "00139" "00213481" "00006" "Isolated (sporadic)" "2y4m" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000161945" "00139" "00213482" "00006" "Isolated (sporadic)" "23y" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000161946" "00139" "00213483" "00006" "Isolated (sporadic)" "2y1m" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000161947" "00139" "00213484" "00006" "Isolated (sporadic)" "1y9m" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000161948" "00139" "00213485" "00006" "Isolated (sporadic)" "8y" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000161949" "00139" "00213486" "00006" "Isolated (sporadic)" "2y4m" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000161950" "00139" "00213487" "00006" "Isolated (sporadic)" "11y" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000161951" "00139" "00213488" "00006" "Isolated (sporadic)" "12m" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000161952" "00139" "00213489" "00006" "Isolated (sporadic)" "4y" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000161953" "00139" "00213490" "00006" "Isolated (sporadic)" "3y4m" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000161954" "00139" "00213491" "00006" "Isolated (sporadic)" "7y" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 17 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050520" "00050575" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000214546" "00213476" "1" "00006" "00006" "2019-01-12 20:05:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000214547" "00213477" "1" "00006" "00006" "2019-01-12 20:05:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000214548" "00213478" "1" "00006" "00006" "2019-01-12 20:05:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000214549" "00213479" "1" "00006" "00006" "2019-01-12 20:05:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000214550" "00213480" "1" "00006" "00006" "2019-01-12 20:05:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000214551" "00213481" "1" "00006" "00006" "2019-01-12 20:05:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000214552" "00213482" "1" "00006" "00006" "2019-01-12 20:05:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000214553" "00213483" "1" "00006" "00006" "2019-01-12 20:05:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000214554" "00213484" "1" "00006" "00006" "2019-01-12 20:05:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000214555" "00213485" "1" "00006" "00006" "2019-01-12 20:05:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000214556" "00213486" "1" "00006" "00006" "2019-01-12 20:05:50" "00006" "2019-01-13 09:44:05" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" "0000214557" "00213487" "1" "00006" "00006" "2019-01-12 20:05:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000214558" "00213488" "1" "00006" "00006" "2019-01-12 20:05:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000214559" "00213489" "1" "00006" "00006" "2019-01-12 20:05:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000214560" "00213490" "1" "00006" "00006" "2019-01-12 20:05:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000214561" "00213491" "1" "00006" "00006" "2019-01-12 20:05:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{geneid}}" "0000214546" "PPP2CA" "0000214547" "PPP2CA" "0000214548" "PPP2CA" "0000214549" "PPP2CA" "0000214550" "PPP2CA" "0000214551" "PPP2CA" "0000214552" "PPP2CA" "0000214553" "PPP2CA" "0000214554" "PPP2CA" "0000214555" "PPP2CA" "0000214556" "PPP2CA" "0000214557" "PPP2CA" "0000214558" "PPP2CA" "0000214559" "PPP2CA" "0000214560" "PPP2CA" "0000214561" "PPP2CA" ## 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 = 24 "{{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}}" "0000079500" "0" "90" "5" "123828524" "145717285" "dup" "0" "00006" "SIL1_000024" "g.123828524_145717285dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, copy number 3 in 0.38 cells" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000346396" "0" "90" "5" "133536680" "133536680" "subst" "0" "02327" "PPP2CA_000003" "g.133536680T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.134200989T>C" "" "pathogenic" "" "0000446849" "0" "90" "5" "133536680" "133536680" "subst" "0" "00006" "PPP2CA_000003" "g.133536680T>C" "" "{PMID:Reynhout 2019:30595372}" "" "65delG" "" "De novo" "" "" "0" "" "" "g.134200989T>C" "" "pathogenic (dominant)" "" "0000446850" "0" "90" "5" "133533511" "133533511" "dup" "0" "00006" "PPP2CA_000002" "g.133533511dup" "" "{PMID:Reynhout 2019:30595372}" "" "" "" "De novo" "" "" "0" "" "" "g.134197820dup" "" "pathogenic (dominant)" "" "0000446851" "0" "90" "5" "133537590" "133537590" "del" "0" "00006" "PPP2CA_000004" "g.133537590del" "" "{PMID:Reynhout 2019:30595372}" "" "" "" "De novo" "" "" "0" "" "" "g.134201899del" "" "pathogenic (dominant)" "" "0000446852" "0" "90" "5" "133533470" "133533472" "dup" "0" "00006" "PPP2CA_000014" "g.133533470_133533472dup" "" "{PMID:Reynhout 2019:30595372}" "" "" "" "De novo" "" "" "0" "" "" "g.134197779_134197781dup" "" "pathogenic (dominant)" "" "0000446853" "0" "90" "5" "133536124" "133536124" "subst" "0" "00006" "PPP2CA_000010" "g.133536124G>A" "" "{PMID:Reynhout 2019:30595372}" "" "" "" "De novo" "" "" "0" "" "" "g.134200433G>A" "" "pathogenic (dominant)" "" "0000446854" "0" "90" "5" "133536680" "133536680" "subst" "0" "00006" "PPP2CA_000003" "g.133536680T>C" "" "{PMID:Reynhout 2019:30595372}" "" "" "" "De novo" "" "" "0" "" "" "g.134200989T>C" "" "pathogenic (dominant)" "" "0000446855" "0" "90" "5" "133536096" "133536096" "subst" "0" "00006" "PPP2CA_000012" "g.133536096T>A" "" "{PMID:Reynhout 2019:30595372}" "" "" "" "De novo" "" "" "0" "" "" "g.134200405T>A" "" "pathogenic (dominant)" "" "0000446856" "0" "90" "5" "133537652" "133537652" "subst" "0" "00006" "PPP2CA_000001" "g.133537652G>A" "" "{PMID:Reynhout 2019:30595372}" "" "" "" "De novo" "" "" "0" "" "" "g.134201961G>A" "" "pathogenic (dominant)" "" "0000446857" "0" "90" "5" "133537645" "133537645" "subst" "0" "00006" "PPP2CA_000008" "g.133537645T>C" "" "{PMID:Reynhout 2019:30595372}" "" "" "" "De novo" "" "" "0" "" "" "g.134201954T>C" "" "pathogenic (dominant)" "" "0000446858" "0" "90" "5" "133534840" "133534840" "subst" "0" "00006" "PPP2CA_000013" "g.133534840T>C" "" "{PMID:Reynhout 2019:30595372}" "" "" "" "De novo" "" "" "0" "" "" "g.134199149T>C" "" "pathogenic (dominant)" "" "0000446859" "0" "90" "5" "133546961" "133667321" "del" "0" "00006" "PPP2CA_000015" "g.(133500000_133546961)_(133667321_133700000)del" "" "{PMID:Reynhout 2019:30595372}" "" "" "120 kb deektion" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000446860" "0" "90" "5" "133537634" "133537634" "subst" "0" "00006" "PPP2CA_000009" "g.133537634C>G" "" "{PMID:Reynhout 2019:30595372}" "" "" "" "De novo" "" "" "0" "" "" "g.134201943C>G" "" "pathogenic (dominant)" "" "0000446861" "0" "90" "5" "133537659" "133537659" "subst" "0" "00006" "PPP2CA_000007" "g.133537659C>G" "" "{PMID:Reynhout 2019:30595372}" "" "" "" "De novo" "" "" "0" "" "" "g.134201968C>G" "" "pathogenic (dominant)" "" "0000446862" "0" "90" "5" "133541662" "133541662" "subst" "0" "00006" "PPP2CA_000006" "g.133541662T>C" "" "{PMID:Reynhout 2019:30595372}" "" "" "" "De novo" "" "" "0" "" "" "g.134205971T>C" "" "pathogenic (dominant)" "" "0000446863" "0" "90" "5" "133541746" "133541746" "subst" "0" "00006" "PPP2CA_000005" "g.133541746C>A" "" "{PMID:Reynhout 2019:30595372}" "" "" "" "De novo" "" "" "0" "" "" "g.134206055C>A" "" "pathogenic (dominant)" "" "0000446864" "0" "90" "5" "133536097" "133536097" "subst" "0" "00006" "PPP2CA_000011" "g.133536097C>G" "" "{PMID:Reynhout 2019:30595372}" "" "" "" "De novo" "" "" "0" "" "" "g.134200406C>G" "" "pathogenic (dominant)" "" "0000801888" "0" "90" "5" "133541662" "133541662" "subst" "0" "02329" "PPP2CA_000006" "g.133541662T>C" "" "" "" "PPP2CA(NM_002715.4):c.263A>G (p.D88G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000886597" "0" "30" "5" "133537716" "133537716" "subst" "0" "02325" "PPP2CA_000016" "g.133537716A>G" "" "" "" "PPP2CA(NM_002715.4):c.313-4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912224" "0" "30" "5" "133536192" "133536192" "subst" "0.000291141" "02325" "PPP2CA_000017" "g.133536192A>G" "" "" "" "PPP2CA(NM_002715.4):c.577-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994658" "0" "50" "5" "133537703" "133537703" "subst" "0" "01804" "PPP2CA_000018" "g.133537703G>A" "" "" "" "PPP2CA(NM_002715.2):c.322C>T (p.(Arg108Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994659" "0" "50" "5" "133541635" "133541635" "subst" "0" "01804" "PPP2CA_000019" "g.133541635A>G" "" "" "" "PPP2CA(NM_002715.2):c.290T>C (p.(Val97Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046971" "0" "70" "5" "133537624" "133537624" "subst" "0" "03779" "PPP2CA_000020" "g.133537624A>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" ## 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 PPP2CA ## Count = 24 "{{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}}" "0000079500" "00016692" "00" "-8388608" "0" "8388607" "0" "c.-12155733_*9704939dup" "" "" "" "0000346396" "00016692" "90" "572" "0" "572" "0" "c.572A>G" "r.(?)" "p.(His191Arg)" "" "0000446849" "00016692" "90" "572" "0" "572" "0" "c.572A>G" "r.(?)" "p.(His191Arg)" "" "0000446850" "00016692" "90" "882" "0" "882" "0" "c.882dup" "r.(?)" "p.(Arg295*)" "" "0000446851" "00016692" "90" "438" "0" "438" "0" "c.438del" "r.(?)" "p.(Phe146Leufs*29)" "" "0000446852" "00016692" "90" "922" "0" "924" "0" "c.922_924dup" "r.(?)" "p.(Phe308dup)" "" "0000446853" "00016692" "90" "640" "0" "640" "0" "c.640C>T" "r.(?)" "p.(Arg214*)" "" "0000446854" "00016692" "90" "572" "0" "572" "0" "c.572A>G" "r.(?)" "p.(His191Arg)" "" "0000446855" "00016692" "90" "668" "0" "668" "0" "c.668A>T" "r.(?)" "p.(Asp223Val)" "" "0000446856" "00016692" "90" "373" "0" "373" "0" "c.373C>T" "r.(?)" "p.(Gln125*)" "" "0000446857" "00016692" "90" "380" "0" "380" "0" "c.380A>G" "r.(?)" "p.(Tyr127Cys)" "" "0000446858" "00016692" "90" "794" "0" "794" "0" "c.794A>G" "r.(?)" "p.(Tyr265Cys)" "" "0000446859" "00016692" "90" "0" "0" "0" "0" "c.(?_-1_103-5139_?)del" "r.0?" "p.0?" "_1_" "0000446860" "00016692" "90" "391" "0" "391" "0" "c.391G>C" "r.(?)" "p.(Asp131His)" "" "0000446861" "00016692" "90" "366" "0" "366" "0" "c.366G>C" "r.(?)" "p.(Gln122His)" "" "0000446862" "00016692" "90" "263" "0" "263" "0" "c.263A>G" "r.(?)" "p.(Asp88Gly)" "" "0000446863" "00016692" "90" "179" "0" "179" "0" "c.179G>T" "r.(?)" "p.(Gly60Val)" "" "0000446864" "00016692" "90" "667" "0" "667" "0" "c.667G>C" "r.(?)" "p.(Asp223His)" "" "0000801888" "00016692" "90" "263" "0" "263" "0" "c.263A>G" "r.(?)" "p.(Asp88Gly)" "" "0000886597" "00016692" "30" "313" "-4" "313" "-4" "c.313-4T>C" "r.spl?" "p.?" "" "0000912224" "00016692" "30" "577" "-5" "577" "-5" "c.577-5T>C" "r.spl?" "p.?" "" "0000994658" "00016692" "50" "322" "0" "322" "0" "c.322C>T" "r.(?)" "p.(Arg108Cys)" "" "0000994659" "00016692" "50" "290" "0" "290" "0" "c.290T>C" "r.(?)" "p.(Val97Ala)" "" "0001046971" "00016692" "70" "401" "0" "401" "0" "c.401T>A" "r.(?)" "p.(Leu134Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{variantid}}" "0000050520" "0000079500" "0000214546" "0000446849" "0000214547" "0000446850" "0000214548" "0000446851" "0000214549" "0000446852" "0000214550" "0000446853" "0000214551" "0000446854" "0000214552" "0000446855" "0000214553" "0000446856" "0000214554" "0000446857" "0000214555" "0000446858" "0000214556" "0000446859" "0000214557" "0000446860" "0000214558" "0000446861" "0000214559" "0000446862" "0000214560" "0000446863" "0000214561" "0000446864"