### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PPARG) # 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}}" "PPARG" "peroxisome proliferator-activated receptor gamma" "3" "p25" "unknown" "NC_000003.11" "UD_132118264492" "" "https://www.LOVD.nl/PPARG" "" "1" "9236" "5468" "601487" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/PPARG_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-07-12 11:30:40" "00000" "2025-07-08 13:22:38" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00016600" "PPARG" "transcript variant 4" "002" "NM_005037.5" "" "NP_005028.4" "" "" "" "-173" "1645" "1434" "12329349" "12475855" "" "0000-00-00 00:00:00" "" "" "00025937" "PPARG" "transcript variant 3" "003" "NM_138711.3" "" "NP_619725.2" "" "" "RefSeq select" "-274" "1645" "1434" "12330436" "12475855" "00006" "2024-07-12 11:31:57" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00151" "NIDDM" "diabetes mellitus, type II (NIDDM)" "AD" "125853" "" "" "" "00001" "2013-06-14 15:56:30" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00259" "obesity" "obesity, susceptibility to (incl. leanness)" "AD;AR;Mu" "601665" "" "" "" "00006" "2013-10-28 15:05:17" "00006" "2022-01-13 16:46:00" "02503" "FPLD3" "lipodystrophy, familial partial, type 3 (FPLD-3)" "AD" "604367" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02846" "CIMT1" "carotid intimal medial thickness 1" "" "609338" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05545" "FPLD" "lipodystrophy, familial partial (FPLD)" "" "" "" "" "" "00006" "2019-01-04 16:17:36" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{geneid}}" "{{diseaseid}}" "PPARG" "00151" "PPARG" "00259" "PPARG" "02503" "PPARG" "02846" "PPARG" "05545" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00293194" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00452120" "" "" "" "1" "" "00006" "{PMID:da Silva 2024:38951919}" "family, several affected (not tested)" "F" "" "Brazil" "" "0" "" "" "" "Pat1" "00452121" "" "" "" "2" "" "00006" "{PMID:da Silva 2024:38951919}" "family, 2 affected sibs" "F" "" "Brazil" "" "0" "" "" "" "FamPat2" "00452122" "" "" "00452121" "1" "" "00006" "{PMID:da Silva 2024:38951919}" "sibs" "M" "" "Brazil" "" "0" "" "" "" "FamPat3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00293194" "00198" "00452120" "05545" "00452121" "05545" "00452122" "05545" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00151, 00198, 00259, 02503, 02846, 05545 ## Count = 3 "{{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}}" "0000340723" "05545" "00452120" "00006" "Familial, autosomal dominant" "35y" "see paper; ..." "" "" "" "" "" "" "" "" "FPLD3" "lipodystrophy" "" "0000340724" "05545" "00452121" "00006" "Familial, autosomal dominant" "34y" "see paper; ..., dyslipidemia" "" "" "" "" "" "" "" "" "FPLD3" "lipodystrophy" "" "0000340725" "05545" "00452122" "00006" "Familial, autosomal dominant" "32y" "see paper; ..., dyslipidemia (hypertriglyceridemia, low HDL)" "" "" "" "" "" "" "" "" "FPLD3" "lipodystrophy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000294362" "00293194" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000453722" "00452120" "1" "00006" "00006" "2024-07-12 11:37:13" "" "" "SEQ" "DNA" "" "" "0000453723" "00452121" "1" "00006" "00006" "2024-07-12 11:37:13" "" "" "SEQ" "DNA" "" "" "0000453724" "00452122" "1" "00006" "00006" "2024-07-12 11:37:13" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000453722" "PPARG" "0000453723" "PPARG" "0000453724" "PPARG" ## 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 = 63 "{{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}}" "0000297285" "0" "30" "3" "12475578" "12475578" "subst" "0.00206439" "02325" "PPARG_000001" "g.12475578C>T" "" "" "" "PPARG(NM_001330615.1):c.*164C>T (p.(=)), PPARG(NM_138711.6):c.1362C>T (p.I454=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12434079C>T" "" "likely benign" "" "0000517672" "0" "30" "3" "12421231" "12421231" "subst" "4.07073E-5" "01804" "PPARG_000002" "g.12421231A>G" "" "" "" "PPARG(NM_001330615.1):c.27A>G (p.(Pro9=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12379732A>G" "" "likely benign" "" "0000517673" "0" "50" "3" "12421355" "12421355" "subst" "3.66345E-5" "01804" "PPARG_000003" "g.12421355G>A" "" "" "" "PPARG(NM_001330615.1):c.151G>A (p.(Glu51Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12379856G>A" "" "VUS" "" "0000517674" "0" "30" "3" "12421360" "12421360" "subst" "0.00163589" "01804" "PPARG_000004" "g.12421360C>T" "" "" "" "PPARG(NM_001330615.1):c.156C>T (p.(Asp52=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12379861C>T" "" "likely benign" "" "0000517675" "0" "30" "3" "12422948" "12422948" "subst" "0.000619437" "01804" "PPARG_000005" "g.12422948T>C" "" "" "" "PPARG(NM_001330615.1):c.354T>C (p.(Ala118=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12381449T>C" "" "likely benign" "" "0000517678" "0" "30" "3" "12434139" "12434139" "subst" "5.28782E-5" "01804" "PPARG_000006" "g.12434139G>A" "" "" "" "PPARG(NM_001330615.1):c.423G>A (p.(Leu141=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12392640G>A" "" "likely benign" "" "0000517694" "0" "50" "3" "12447410" "12447410" "subst" "8.14067E-6" "01804" "PPARG_000008" "g.12447410G>A" "" "" "" "PPARG(NM_005037.5):c.565G>A (p.(Glu189Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12405911G>A" "" "VUS" "" "0000517696" "0" "30" "3" "12458209" "12458209" "subst" "7.3443E-5" "01804" "PPARG_000009" "g.12458209G>A" "" "" "" "PPARG(NM_005037.5):c.742G>A (p.(Val248Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12416710G>A" "" "likely benign" "" "0000517697" "0" "30" "3" "12458274" "12458274" "subst" "0.00405951" "01804" "PPARG_000010" "g.12458274C>G" "" "" "" "PPARG(NM_005037.5):c.807C>G (p.(Pro269=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12416775C>G" "" "likely benign" "" "0000517698" "0" "30" "3" "12458386" "12458386" "subst" "0.000215798" "01804" "PPARG_000011" "g.12458386G>C" "" "" "" "PPARG(NM_005037.5):c.919G>C (p.(Val307Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12416887G>C" "" "likely benign" "" "0000517699" "0" "30" "3" "12458436" "12458436" "subst" "0.000476412" "01804" "PPARG_000012" "g.12458436C>T" "" "" "" "PPARG(NM_005037.5):c.969C>T (p.(His323=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12416937C>T" "" "likely benign" "" "0000517700" "0" "50" "3" "12458506" "12458506" "subst" "0" "01804" "PPARG_000013" "g.12458506T>G" "" "" "" "PPARG(NM_005037.5):c.1039T>G (p.(Phe347Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12417007T>G" "" "VUS" "" "0000517702" "0" "10" "3" "12475497" "12475497" "subst" "0.00142153" "01804" "PPARG_000014" "g.12475497A>G" "" "" "" "PPARG(NM_001330615.1):c.*83A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12433998A>G" "" "benign" "" "0000517703" "0" "30" "3" "12475578" "12475578" "subst" "0.00206439" "01804" "PPARG_000001" "g.12475578C>T" "" "" "" "PPARG(NM_001330615.1):c.*164C>T (p.(=)), PPARG(NM_138711.6):c.1362C>T (p.I454=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12434079C>T" "" "likely benign" "" "0000608275" "0" "50" "3" "12458437" "12458437" "subst" "0" "01804" "PPARG_000015" "g.12458437G>C" "" "" "" "PPARG(NM_005037.5):c.970G>C (p.(Glu324Gln)), PPARG(NM_015869.5):c.1054G>C (p.E352Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12416938G>C" "" "VUS" "" "0000651051" "1" "90" "3" "12458335" "12458335" "subst" "4.07047E-6" "03575" "PPARG_000016" "g.12458335G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs72551362}" "Germline" "" "rs72551362" "0" "" "" "g.12416836G>A" "" "pathogenic" "" "0000858773" "0" "30" "3" "12421273" "12421273" "subst" "0.000183152" "01804" "PPARG_000017" "g.12421273C>T" "" "" "" "PPARG(NM_001330615.1):c.69C>T (p.(Ser23=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858774" "0" "30" "3" "12421391" "12421391" "subst" "4.06891E-6" "01804" "PPARG_000018" "g.12421391G>A" "" "" "" "PPARG(NM_015869.4):c.271G>A (p.(Ala91Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858775" "0" "50" "3" "12422851" "12422851" "subst" "0" "01804" "PPARG_000019" "g.12422851C>T" "" "" "" "PPARG(NM_015869.4):c.341C>T (p.(Pro114Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858776" "0" "70" "3" "12422962" "12422962" "subst" "0" "01804" "PPARG_000020" "g.12422962A>G" "" "" "" "PPARG(NM_015869.4):c.452A>G (p.(Tyr151Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000858777" "0" "30" "3" "12422997" "12422997" "subst" "5.59534E-5" "01804" "PPARG_000021" "g.12422997A>T" "" "" "" "PPARG(NM_015869.4):c.480+7A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858778" "0" "30" "3" "12434110" "12434110" "subst" "0.000297052" "01804" "PPARG_000022" "g.12434110C>T" "" "" "" "PPARG(NM_001330615.1):c.397-3C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858779" "0" "50" "3" "12434142" "12434142" "subst" "8.13531E-6" "01804" "PPARG_000023" "g.12434142G>C" "" "" "" "PPARG(NM_001330615.1):c.426G>C (p.(Lys142Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858780" "0" "30" "3" "12447429" "12447429" "subst" "8.13921E-6" "01804" "PPARG_000024" "g.12447429C>T" "" "" "" "PPARG(NM_015869.4):c.668C>T (p.(Ala223Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858783" "0" "90" "3" "12458276" "12458276" "del" "0" "01804" "PPARG_000025" "g.12458276del" "" "" "" "PPARG(NM_015869.4):c.893del (p.(Leu298ArgfsTer38))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000858784" "0" "50" "3" "12458362" "12458362" "subst" "0" "01804" "PPARG_000026" "g.12458362T>G" "" "" "" "PPARG(NM_015869.4):c.979T>G (p.(Tyr327Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858785" "0" "50" "3" "12458519" "12458519" "subst" "0" "01804" "PPARG_000027" "g.12458519A>G" "" "" "" "PPARG(NM_005037.5):c.1052A>G (p.(Glu351Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858786" "0" "90" "3" "12458536" "12458536" "subst" "4.07378E-6" "01804" "PPARG_000028" "g.12458536C>T" "" "" "" "PPARG(NM_015869.4):c.1153C>T (p.(Arg385Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000858787" "0" "50" "3" "12458618" "12458618" "subst" "0" "01804" "PPARG_000029" "g.12458618T>G" "" "" "" "PPARG(NM_005037.5):c.1151T>G (p.(Leu384Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858788" "0" "50" "3" "12475454" "12475454" "subst" "0" "01804" "PPARG_000030" "g.12475454A>G" "" "" "" "PPARG(NM_005037.5):c.1244A>G (p.(Gln415Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858789" "0" "50" "3" "12475588" "12475588" "subst" "0" "01804" "PPARG_000031" "g.12475588G>A" "" "" "" "PPARG(NM_005037.5):c.1378G>A (p.(Glu460Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885527" "0" "30" "3" "12421189" "12421189" "subst" "4.89564E-5" "01804" "PPARG_000032" "g.12421189A>G" "" "" "" "PPARG(NM_001330615.1):c.-2-14A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885528" "0" "30" "3" "12447550" "12447550" "subst" "1.22006E-5" "01804" "PPARG_000033" "g.12447550G>A" "" "" "" "PPARG(NM_015869.4):c.789G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885529" "0" "30" "3" "12458274" "12458274" "subst" "7.32911E-5" "01804" "PPARG_000034" "g.12458274C>T" "" "" "" "PPARG(NM_005037.5):c.807C>T (p.(Pro269=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885530" "0" "50" "3" "12458362" "12458362" "subst" "0" "02327" "PPARG_000026" "g.12458362T>G" "" "" "" "PPARG(NM_015869.4):c.979T>G (p.(Tyr327Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885531" "0" "70" "3" "12475438" "12475438" "subst" "0" "01804" "PPARG_000035" "g.12475438C>T" "" "" "" "PPARG(NM_005037.5):c.1228C>T (p.(Gln410Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000911816" "0" "30" "3" "12421243" "12421243" "subst" "1.22128E-5" "01804" "PPARG_000036" "g.12421243C>G" "" "" "" "PPARG(NM_015869.4):c.123C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911817" "0" "50" "3" "12458578" "12458578" "subst" "0" "02325" "PPARG_000037" "g.12458578G>T" "" "" "" "PPARG(NM_015869.5):c.1195G>T (p.A399S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911818" "0" "50" "3" "12475550" "12475550" "subst" "0" "01804" "PPARG_000038" "g.12475550C>A" "" "" "" "PPARG(NM_015869.4):c.1424C>A (p.(Thr475Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923822" "0" "50" "3" "12422941" "12422941" "subst" "0" "01804" "PPARG_000039" "g.12422941A>G" "" "" "" "PPARG(NM_001330615.1):c.347A>G (p.(Asp116Gly)), PPARG(NM_001354668.2):c.431A>G (p.D144G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923823" "0" "90" "3" "12458335" "12458335" "subst" "4.07047E-6" "02326" "PPARG_000016" "g.12458335G>A" "" "" "" "PPARG(NM_015869.5):c.952G>A (p.V318M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000923824" "0" "50" "3" "12458432" "12458432" "subst" "4.07186E-6" "01804" "PPARG_000040" "g.12458432T>G" "" "" "" "PPARG(NM_015869.4):c.1049T>G (p.(Val350Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923825" "0" "50" "3" "12458630" "12458630" "subst" "0" "01804" "PPARG_000041" "g.12458630T>C" "" "" "" "PPARG(NM_015869.4):c.1247T>C (p.(Ile416Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928694" "0" "50" "3" "12422941" "12422941" "subst" "0" "02329" "PPARG_000039" "g.12422941A>G" "" "" "" "PPARG(NM_001330615.1):c.347A>G (p.(Asp116Gly)), PPARG(NM_001354668.2):c.431A>G (p.D144G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928696" "0" "50" "3" "12458437" "12458437" "subst" "0" "02325" "PPARG_000015" "g.12458437G>C" "" "" "" "PPARG(NM_005037.5):c.970G>C (p.(Glu324Gln)), PPARG(NM_015869.5):c.1054G>C (p.E352Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948008" "0" "30" "3" "12421316" "12421316" "subst" "8.14107E-6" "01804" "PPARG_000042" "g.12421316A>G" "" "" "" "PPARG(NM_001330615.1):c.112A>G (p.(Thr38Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948009" "0" "30" "3" "12421448" "12421448" "subst" "6.11681E-5" "01804" "PPARG_000043" "g.12421448A>G" "" "" "" "PPARG(NM_005037.5):c.226+18A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948010" "0" "50" "3" "12458374" "12458374" "subst" "3.25677E-5" "01804" "PPARG_000044" "g.12458374A>G" "" "" "" "PPARG(NM_015869.4):c.991A>G (p.(Ile331Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000962457" "0" "30" "3" "12434124" "12434124" "subst" "6.10257E-5" "01804" "PPARG_000045" "g.12434124G>T" "" "" "" "PPARG(NM_005037.5):c.408G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962458" "0" "50" "3" "12434205" "12434205" "subst" "0" "01804" "PPARG_000046" "g.12434205G>C" "" "" "" "PPARG(NM_015869.4):c.573G>C (p.(Gln191His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000988484" "1" "70" "3" "12434165" "12434165" "subst" "0" "00006" "PPARG_000047" "g.12434165T>C" "" "{PMID:da Silva 2024:38951919}" "" "NM_015869.5:c.533T>C" "ACMG PM1, PM2, PP2, PP3, PP4" "Germline" "" "" "0" "" "" "g.12392666T>C" "SCV004697857" "likely pathogenic (dominant)" "ACMG" "0000988485" "1" "70" "3" "12447402" "12447402" "subst" "0" "00006" "PPARG_000048" "g.12447402C>T" "" "{PMID:da Silva 2024:38951919}" "" "NM_015869.5:c.641C>T" "ACMG PM1, PM2, PP1, PP2, PP3, PP4, PP5" "Germline" "yes" "" "0" "" "" "g.12405903C>T" "SCV004697856" "likely pathogenic (dominant)" "ACMG" "0000988486" "1" "90" "3" "12447402" "12447402" "subst" "0" "00006" "PPARG_000048" "g.12447402C>T" "" "{PMID:da Silva 2024:38951919}" "" "NM_015869.5:c.641C>T" "" "Germline" "yes" "" "0" "" "" "g.12405903C>T" "SCV004697856" "pathogenic (dominant)" "" "0000993221" "0" "30" "3" "12393134" "12393134" "subst" "4.06696E-6" "01804" "PPARG_000049" "g.12393134G>A" "" "" "" "PPARG(NM_015869.4):c.43G>A (p.(Asp15Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993223" "0" "30" "3" "12458334" "12458334" "subst" "2.84951E-5" "01804" "PPARG_000050" "g.12458334C>T" "" "" "" "PPARG(NM_005037.5):c.867C>T (p.(Ser289=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993224" "0" "30" "3" "12458614" "12458614" "subst" "0" "02327" "PPARG_000051" "g.12458614G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013808" "0" "50" "3" "12434125" "12434125" "subst" "0" "01804" "PPARG_000052" "g.12434125A>G" "" "" "" "PPARG(NM_015869.4):c.493A>G (p.(Arg165Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013809" "0" "50" "3" "12434126" "12434126" "subst" "4.06822E-6" "01804" "PPARG_000053" "g.12434126G>C" "" "" "" "PPARG(NM_015869.4):c.494G>C (p.(Arg165Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024717" "0" "50" "3" "12447543" "12447543" "subst" "0" "01804" "PPARG_000054" "g.12447543C>T" "" "" "" "PPARG(NM_015869.4):c.782C>T (p.(Ala261Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033622" "0" "50" "3" "12434246" "12434246" "subst" "4.07163E-6" "01804" "PPARG_000055" "g.12434246A>G" "" "" "" "PPARG(NM_138711.6):c.524A>G (p.(His175Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033623" "0" "30" "3" "12447611" "12447611" "dup" "0" "01804" "PPARG_000056" "g.12447611dup" "" "" "" "PPARG(NM_001354668.2):c.850dup (p.(Glu284GlyfsTer68))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033624" "0" "50" "3" "12458225" "12458225" "subst" "0" "01804" "PPARG_000057" "g.12458225A>G" "" "" "" "PPARG(NM_138711.6):c.752A>G (p.(Asn251Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045874" "0" "70" "3" "12458217" "12458217" "subst" "0" "01804" "PPARG_000058" "g.12458217T>G" "" "" "" "PPARG(NM_015869.4):c.834T>G (p.(Tyr278Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 PPARG ## Count = 126 "{{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}}" "0000297285" "00025937" "30" "1368" "0" "1368" "0" "c.1368C>T" "r.(?)" "p.(Ile456=)" "" "0000297285" "00016600" "30" "1368" "0" "1368" "0" "c.1368C>T" "r.(?)" "p.(Ile456=)" "" "0000517672" "00025937" "30" "27" "0" "27" "0" "c.27A>G" "r.(?)" "p.(Pro9=)" "" "0000517672" "00016600" "30" "27" "0" "27" "0" "c.27A>G" "r.(?)" "p.(Pro9=)" "" "0000517673" "00025937" "50" "151" "0" "151" "0" "c.151G>A" "r.(?)" "p.(Glu51Lys)" "" "0000517673" "00016600" "50" "151" "0" "151" "0" "c.151G>A" "r.(?)" "p.(Glu51Lys)" "" "0000517674" "00025937" "30" "156" "0" "156" "0" "c.156C>T" "r.(?)" "p.(Asp52=)" "" "0000517674" "00016600" "30" "156" "0" "156" "0" "c.156C>T" "r.(?)" "p.(Asp52=)" "" "0000517675" "00025937" "30" "354" "0" "354" "0" "c.354T>C" "r.(?)" "p.(Ala118=)" "" "0000517675" "00016600" "30" "354" "0" "354" "0" "c.354T>C" "r.(?)" "p.(Ala118=)" "" "0000517678" "00025937" "30" "423" "0" "423" "0" "c.423G>A" "r.(?)" "p.(Leu141=)" "" "0000517678" "00016600" "30" "423" "0" "423" "0" "c.423G>A" "r.(?)" "p.(Leu141=)" "" "0000517694" "00025937" "50" "565" "0" "565" "0" "c.565G>A" "r.(?)" "p.(Glu189Lys)" "" "0000517694" "00016600" "50" "565" "0" "565" "0" "c.565G>A" "r.(?)" "p.(Glu189Lys)" "" "0000517696" "00025937" "30" "742" "0" "742" "0" "c.742G>A" "r.(?)" "p.(Val248Ile)" "" "0000517696" "00016600" "30" "742" "0" "742" "0" "c.742G>A" "r.(?)" "p.(Val248Ile)" "" "0000517697" "00025937" "30" "807" "0" "807" "0" "c.807C>G" "r.(?)" "p.(Pro269=)" "" "0000517697" "00016600" "30" "807" "0" "807" "0" "c.807C>G" "r.(?)" "p.(Pro269=)" "" "0000517698" "00025937" "30" "919" "0" "919" "0" "c.919G>C" "r.(?)" "p.(Val307Leu)" "" "0000517698" "00016600" "30" "919" "0" "919" "0" "c.919G>C" "r.(?)" "p.(Val307Leu)" "" "0000517699" "00025937" "30" "969" "0" "969" "0" "c.969C>T" "r.(?)" "p.(His323=)" "" "0000517699" "00016600" "30" "969" "0" "969" "0" "c.969C>T" "r.(?)" "p.(His323=)" "" "0000517700" "00025937" "50" "1039" "0" "1039" "0" "c.1039T>G" "r.(?)" "p.(Phe347Val)" "" "0000517700" "00016600" "50" "1039" "0" "1039" "0" "c.1039T>G" "r.(?)" "p.(Phe347Val)" "" "0000517702" "00025937" "10" "1287" "0" "1287" "0" "c.1287A>G" "r.(?)" "p.(Ser429=)" "" "0000517702" "00016600" "10" "1287" "0" "1287" "0" "c.1287A>G" "r.(?)" "p.(Ser429=)" "" "0000517703" "00025937" "30" "1368" "0" "1368" "0" "c.1368C>T" "r.(?)" "p.(Ile456=)" "" "0000517703" "00016600" "30" "1368" "0" "1368" "0" "c.1368C>T" "r.(?)" "p.(Ile456=)" "" "0000608275" "00025937" "50" "970" "0" "970" "0" "c.970G>C" "r.(?)" "p.(Glu324Gln)" "" "0000608275" "00016600" "50" "970" "0" "970" "0" "c.970G>C" "r.(?)" "p.(Glu324Gln)" "" "0000651051" "00025937" "90" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Val290Met)" "" "0000651051" "00016600" "90" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Val290Met)" "" "0000858773" "00025937" "30" "69" "0" "69" "0" "c.69C>T" "r.(?)" "p.(Ser23=)" "" "0000858773" "00016600" "30" "69" "0" "69" "0" "c.69C>T" "r.(?)" "p.(Ser23=)" "" "0000858774" "00025937" "30" "187" "0" "187" "0" "c.187G>A" "r.(?)" "p.(Ala63Thr)" "" "0000858774" "00016600" "30" "187" "0" "187" "0" "c.187G>A" "r.(?)" "p.(Ala63Thr)" "" "0000858775" "00025937" "50" "257" "0" "257" "0" "c.257C>T" "r.(?)" "p.(Pro86Leu)" "" "0000858775" "00016600" "50" "257" "0" "257" "0" "c.257C>T" "r.(?)" "p.(Pro86Leu)" "" "0000858776" "00025937" "70" "368" "0" "368" "0" "c.368A>G" "r.(?)" "p.(Tyr123Cys)" "" "0000858776" "00016600" "70" "368" "0" "368" "0" "c.368A>G" "r.(?)" "p.(Tyr123Cys)" "" "0000858777" "00025937" "30" "396" "7" "396" "7" "c.396+7A>T" "r.(=)" "p.(=)" "" "0000858777" "00016600" "30" "396" "7" "396" "7" "c.396+7A>T" "r.(=)" "p.(=)" "" "0000858778" "00025937" "30" "397" "-3" "397" "-3" "c.397-3C>T" "r.spl?" "p.?" "" "0000858778" "00016600" "30" "397" "-3" "397" "-3" "c.397-3C>T" "r.spl?" "p.?" "" "0000858779" "00025937" "50" "426" "0" "426" "0" "c.426G>C" "r.(?)" "p.(Lys142Asn)" "" "0000858779" "00016600" "50" "426" "0" "426" "0" "c.426G>C" "r.(?)" "p.(Lys142Asn)" "" "0000858780" "00025937" "30" "584" "0" "584" "0" "c.584C>T" "r.(?)" "p.(Ala195Val)" "" "0000858780" "00016600" "30" "584" "0" "584" "0" "c.584C>T" "r.(?)" "p.(Ala195Val)" "" "0000858783" "00025937" "90" "809" "0" "809" "0" "c.809del" "r.(?)" "p.(Leu270ArgfsTer38)" "" "0000858783" "00016600" "90" "809" "0" "809" "0" "c.809del" "r.(?)" "p.(Leu270ArgfsTer38)" "" "0000858784" "00025937" "50" "895" "0" "895" "0" "c.895T>G" "r.(?)" "p.(Tyr299Asp)" "" "0000858784" "00016600" "50" "895" "0" "895" "0" "c.895T>G" "r.(?)" "p.(Tyr299Asp)" "" "0000858785" "00025937" "50" "1052" "0" "1052" "0" "c.1052A>G" "r.(?)" "p.(Glu351Gly)" "" "0000858785" "00016600" "50" "1052" "0" "1052" "0" "c.1052A>G" "r.(?)" "p.(Glu351Gly)" "" "0000858786" "00025937" "90" "1069" "0" "1069" "0" "c.1069C>T" "r.(?)" "p.(Arg357Ter)" "" "0000858786" "00016600" "90" "1069" "0" "1069" "0" "c.1069C>T" "r.(?)" "p.(Arg357Ter)" "" "0000858787" "00025937" "50" "1151" "0" "1151" "0" "c.1151T>G" "r.(?)" "p.(Leu384Trp)" "" "0000858787" "00016600" "50" "1151" "0" "1151" "0" "c.1151T>G" "r.(?)" "p.(Leu384Trp)" "" "0000858788" "00025937" "50" "1244" "0" "1244" "0" "c.1244A>G" "r.(?)" "p.(Gln415Arg)" "" "0000858788" "00016600" "50" "1244" "0" "1244" "0" "c.1244A>G" "r.(?)" "p.(Gln415Arg)" "" "0000858789" "00025937" "50" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Glu460Lys)" "" "0000858789" "00016600" "50" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Glu460Lys)" "" "0000885527" "00025937" "30" "-2" "-14" "-2" "-14" "c.-2-14A>G" "r.(=)" "p.(=)" "" "0000885527" "00016600" "30" "-2" "-14" "-2" "-14" "c.-2-14A>G" "r.(=)" "p.(=)" "" "0000885528" "00025937" "30" "705" "0" "705" "0" "c.705G>A" "r.(?)" "p.(Ala235=)" "" "0000885528" "00016600" "30" "705" "0" "705" "0" "c.705G>A" "r.(?)" "p.(Ala235=)" "" "0000885529" "00025937" "30" "807" "0" "807" "0" "c.807C>T" "r.(?)" "p.(Pro269=)" "" "0000885529" "00016600" "30" "807" "0" "807" "0" "c.807C>T" "r.(?)" "p.(Pro269=)" "" "0000885530" "00025937" "50" "895" "0" "895" "0" "c.895T>G" "r.(?)" "p.(Tyr299Asp)" "" "0000885530" "00016600" "50" "895" "0" "895" "0" "c.895T>G" "r.(?)" "p.(Tyr299Asp)" "" "0000885531" "00025937" "70" "1228" "0" "1228" "0" "c.1228C>T" "r.(?)" "p.(Gln410*)" "" "0000885531" "00016600" "70" "1228" "0" "1228" "0" "c.1228C>T" "r.(?)" "p.(Gln410*)" "" "0000911816" "00025937" "30" "39" "0" "39" "0" "c.39C>G" "r.(?)" "p.(Thr13=)" "" "0000911816" "00016600" "30" "39" "0" "39" "0" "c.39C>G" "r.(?)" "p.(Thr13=)" "" "0000911817" "00025937" "50" "1111" "0" "1111" "0" "c.1111G>T" "r.(?)" "p.(Ala371Ser)" "" "0000911817" "00016600" "50" "1111" "0" "1111" "0" "c.1111G>T" "r.(?)" "p.(Ala371Ser)" "" "0000911818" "00025937" "50" "1340" "0" "1340" "0" "c.1340C>A" "r.(?)" "p.(Thr447Lys)" "" "0000911818" "00016600" "50" "1340" "0" "1340" "0" "c.1340C>A" "r.(?)" "p.(Thr447Lys)" "" "0000923822" "00025937" "50" "347" "0" "347" "0" "c.347A>G" "r.(?)" "p.(Asp116Gly)" "" "0000923822" "00016600" "50" "347" "0" "347" "0" "c.347A>G" "r.(?)" "p.(Asp116Gly)" "" "0000923823" "00025937" "90" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Val290Met)" "" "0000923823" "00016600" "90" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Val290Met)" "" "0000923824" "00025937" "50" "965" "0" "965" "0" "c.965T>G" "r.(?)" "p.(Val322Gly)" "" "0000923824" "00016600" "50" "965" "0" "965" "0" "c.965T>G" "r.(?)" "p.(Val322Gly)" "" "0000923825" "00025937" "50" "1163" "0" "1163" "0" "c.1163T>C" "r.(?)" "p.(Ile388Thr)" "" "0000923825" "00016600" "50" "1163" "0" "1163" "0" "c.1163T>C" "r.(?)" "p.(Ile388Thr)" "" "0000928694" "00025937" "50" "347" "0" "347" "0" "c.347A>G" "r.(?)" "p.(Asp116Gly)" "" "0000928694" "00016600" "50" "347" "0" "347" "0" "c.347A>G" "r.(?)" "p.(Asp116Gly)" "" "0000928696" "00025937" "50" "970" "0" "970" "0" "c.970G>C" "r.(?)" "p.(Glu324Gln)" "" "0000928696" "00016600" "50" "970" "0" "970" "0" "c.970G>C" "r.(?)" "p.(Glu324Gln)" "" "0000948008" "00025937" "30" "112" "0" "112" "0" "c.112A>G" "r.(?)" "p.(Thr38Ala)" "" "0000948008" "00016600" "30" "112" "0" "112" "0" "c.112A>G" "r.(?)" "p.(Thr38Ala)" "" "0000948009" "00025937" "30" "226" "18" "226" "18" "c.226+18A>G" "r.(=)" "p.(=)" "" "0000948009" "00016600" "30" "226" "18" "226" "18" "c.226+18A>G" "r.(=)" "p.(=)" "" "0000948010" "00025937" "50" "907" "0" "907" "0" "c.907A>G" "r.(?)" "p.(Ile303Val)" "" "0000948010" "00016600" "50" "907" "0" "907" "0" "c.907A>G" "r.(?)" "p.(Ile303Val)" "" "0000962457" "00025937" "30" "408" "0" "408" "0" "c.408G>T" "r.(?)" "p.(=)" "" "0000962457" "00016600" "30" "408" "0" "408" "0" "c.408G>T" "r.(?)" "p.(=)" "" "0000962458" "00025937" "50" "489" "0" "489" "0" "c.489G>C" "r.(?)" "p.(Gln163His)" "" "0000962458" "00016600" "50" "489" "0" "489" "0" "c.489G>C" "r.(?)" "p.(Gln163His)" "" "0000988484" "00025937" "70" "449" "0" "449" "0" "c.449T>C" "r.(?)" "p.(Leu150Pro)" "" "0000988484" "00016600" "70" "449" "0" "449" "0" "c.449T>C" "r.(?)" "p.(Leu150Pro)" "" "0000988485" "00025937" "70" "557" "0" "557" "0" "c.557C>T" "r.(?)" "p.(Pro186Leu)" "" "0000988485" "00016600" "70" "557" "0" "557" "0" "c.557C>T" "r.(?)" "p.(Pro186Leu)" "" "0000988486" "00025937" "90" "557" "0" "557" "0" "c.557C>T" "r.(?)" "p.(Pro186Leu)" "" "0000988486" "00016600" "90" "557" "0" "557" "0" "c.557C>T" "r.(?)" "p.(Pro186Leu)" "" "0000993221" "00025937" "30" "-2" "-28069" "-2" "-28069" "c.-2-28069G>A" "r.(=)" "p.(=)" "" "0000993221" "00016600" "30" "-2" "-28069" "-2" "-28069" "c.-2-28069G>A" "r.(=)" "p.(=)" "" "0000993223" "00025937" "30" "867" "0" "867" "0" "c.867C>T" "r.(?)" "p.(=)" "" "0000993223" "00016600" "30" "867" "0" "867" "0" "c.867C>T" "r.(?)" "p.(=)" "" "0000993224" "00025937" "30" "1147" "0" "1147" "0" "c.1147G>A" "r.(?)" "p.(Asp383Asn)" "" "0000993224" "00016600" "30" "1147" "0" "1147" "0" "c.1147G>A" "r.(?)" "p.(Asp383Asn)" "" "0001013808" "00025937" "50" "409" "0" "409" "0" "c.409A>G" "r.(?)" "p.(Arg137Gly)" "" "0001013808" "00016600" "50" "409" "0" "409" "0" "c.409A>G" "r.(?)" "p.(Arg137Gly)" "" "0001013809" "00025937" "50" "410" "0" "410" "0" "c.410G>C" "r.(?)" "p.(Arg137Thr)" "" "0001013809" "00016600" "50" "410" "0" "410" "0" "c.410G>C" "r.(?)" "p.(Arg137Thr)" "" "0001024717" "00025937" "50" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Ala233Val)" "" "0001024717" "00016600" "50" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Ala233Val)" "" "0001033622" "00025937" "50" "530" "0" "530" "0" "c.530A>G" "r.(?)" "p.(His177Arg)" "" "0001033622" "00016600" "50" "530" "0" "530" "0" "c.530A>G" "r.(?)" "p.(His177Arg)" "" "0001033623" "00025937" "30" "735" "31" "735" "31" "c.735+31dup" "r.(=)" "p.(=)" "" "0001033623" "00016600" "30" "735" "31" "735" "31" "c.735+31dup" "r.(=)" "p.(=)" "" "0001033624" "00025937" "50" "758" "0" "758" "0" "c.758A>G" "r.(?)" "p.(Asn253Ser)" "" "0001033624" "00016600" "50" "758" "0" "758" "0" "c.758A>G" "r.(?)" "p.(Asn253Ser)" "" "0001045874" "00025937" "70" "750" "0" "750" "0" "c.750T>G" "r.(?)" "p.(Tyr250*)" "" "0001045874" "00016600" "70" "750" "0" "750" "0" "c.750T>G" "r.(?)" "p.(Tyr250*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000294362" "0000651051" "0000453722" "0000988484" "0000453723" "0000988485" "0000453724" "0000988486"