### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TGFB3) # 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}}" "TGFB3" "transforming growth factor, beta 3" "14" "q24" "unknown" "NG_011715.1" "UD_132118518001" "" "https://www.LOVD.nl/TGFB3" "ARVD/C genetic variants database " "1" "11769" "7043" "190230" "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" "2009-02-25 00:00:00" "00006" "2022-01-01 12:55:46" "00000" "2025-07-08 13:22:38" ## 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}}" "00021045" "TGFB3" "transforming growth factor, beta 3" "001" "NM_003239.2" "" "NP_003230.1" "" "" "" "-856" "2327" "1239" "76448092" "76424442" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "00884" "LDS" "Loeys-Dietz syndrome (LDS)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01182" "ARVD1" "dysplasia, arrhythmogenic right ventricular, type 1 (ARVD-1)" "AD" "107970" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04015" "LDS5;RNHF" "Loeys-Dietz syndrome, type 5 (LDS-5, Rienhoff syndrome (RNHF))" "AD" "615582" "" "hypertelorism (HP:0000316); bifid uvula (HP:0000193)/cleft palate (HP:0000175); exotropia (HP:0000577); no craniosynostosis (-HP:0001363); cervical spine instability (HP:0010646); retrognathia (HP:0000278); scoliosis (HP:0002650); club foot (HP:0001762); osteoarthritis (HP:0002758); no pneumothorax (-HP:0002107); hernia (HP:0100790); no arterial tortuosity (-HP:0005116)" "" "00006" "2014-09-25 23:29:40" "00006" "2022-01-03 17:49:07" "04173" "LVNC" "ventricular noncompaction, left (LVNC)" "" "" "" "" "" "00006" "2015-01-20 15:35:56" "00006" "2015-10-12 17:03:37" "05099" "ARVD/C" "dysplasia, arrhythmogenic right ventricular (ARVD), arrhythmogenic right ventricular cardiomyopathy (ARVC)" "" "" "" "" "" "00006" "2015-10-31 14:39:33" "00006" "2018-12-23 15:01:47" "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 = 3 "{{geneid}}" "{{diseaseid}}" "TGFB3" "00884" "TGFB3" "01182" "TGFB3" "04015" ## Individuals ## Do not remove or alter this header ## ## Count = 25 "{{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}}" "00080864" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected heterozygous carrier father, mother not available" "" "" "" "" "0" "" "" "" "" "00209942" "" "" "" "11" "" "00802" "{PMID:Pilichou 2006:16505173}, Rampazzo 2008 (escardio.org ID24 4371)" "" "" "" "" "" "0" "" "" "" "" "00209943" "" "" "" "2" "" "00802" "{PMID:Basso:16774985}, Rampazzo 2008 (escardio.org ID24 4371)" "Brother SCD, diagnosed on autospy" "" "" "" "" "0" "" "" "" "" "00209944" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00398115" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat53" "00398116" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat54" "00398182" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat127" "00398195" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat140" "00398196" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat141" "00398197" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat142" "00398198" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat143" "00398199" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat144" "00398200" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat145" "00398201" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat146" "00418573" "" "" "" "1" "" "00006" "{PMID:Almpani 2022:34916229}" "proband" "" "" "United States" "" "0" "" "" "" "PatXXX" "00419652" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "8039" "00444035" "" "" "" "1" "" "01164" "" "" "M" "no" "? (unknown)" "" "0" "" "" "" "277694" "00446755" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case not solved" "" "" "" "" "0" "" "" "" "Pat23" "00446808" "" "" "" "2" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "family, 2 affected; case solved" "" "" "" "" "0" "" "" "" "FamHPat93" "00446809" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat94" "00446821" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case not solved" "" "" "" "" "0" "" "" "" "Pat110" "00446883" "" "" "00446808" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "relative; case solved" "" "" "" "" "0" "" "" "" "FamHPat176" "00446891" "" "" "" "3" "" "00006" "{PMID:Myasnikov 2021:34202524}" "4-generation family, 3 affected (2F, M) with di-genic variants" "F" "" "Russia" "" "0" "" "" "" "FamPatIII4" "00457354" "" "" "" "1" "" "00006" "{PMID:Jia 2022:35977029}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "white;Poland" "Pat12" "00460914" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 25 "{{individualid}}" "{{diseaseid}}" "00080864" "04015" "00209942" "05099" "00209943" "05099" "00209944" "00198" "00398115" "00198" "00398116" "00198" "00398182" "00198" "00398195" "00198" "00398196" "00198" "00398197" "00198" "00398198" "00198" "00398199" "00198" "00398200" "00198" "00398201" "00198" "00418573" "00884" "00419652" "00198" "00444035" "04015" "00446755" "04173" "00446808" "04173" "00446809" "04173" "00446821" "04173" "00446883" "04173" "00446891" "04173" "00457354" "05611" "00460914" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00884, 01182, 04015, 04173, 05099, 05611 ## Count = 24 "{{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}}" "0000060433" "04015" "00080864" "01758" "Familial, autosomal dominant" "" "Loeys-Dietz syndrome type 5 (OMIM:615582)" "" "" "" "" "" "" "" "" "" "" "" "0000158541" "05099" "00209942" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-1" "ARVD/C" "" "0000158542" "05099" "00209943" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-1" "ARVD/C" "" "0000158543" "00198" "00209944" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000291225" "00198" "00398115" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291226" "00198" "00398116" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291292" "00198" "00398182" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291305" "00198" "00398195" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291306" "00198" "00398196" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291307" "00198" "00398197" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291308" "00198" "00398198" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291309" "00198" "00398199" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291310" "00198" "00398200" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291311" "00198" "00398201" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000309910" "00884" "00418573" "00006" "Familial, autosomal dominant" "" "see paper (extensive phenotyping)" "" "" "" "" "" "" "" "" "LDS5" "Loeys-Dietz syndrome" "" "0000310933" "00198" "00419652" "02300" "Isolated (sporadic)" "8y" "sensorineural hearing loss, cardiomyopathy, pulmonary stenosis, sudden cardiac death" "" "" "" "" "" "" "" "" "" "cardio and/or vascular abnormality" "" "0000333292" "04015" "00444035" "01164" "Unknown" "10y" "Macrocephaly, Tall stature, Pes planus, Delayed fine motor development, Expressive language delay, Cerebral white matter atrophy, Hypertelorism, Increased body weight" "" "" "" "" "" "" "" "" "" "" "" "0000335959" "04173" "00446755" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" "0000336012" "04173" "00446808" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" "0000336013" "04173" "00446809" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" "0000336025" "04173" "00446821" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" "0000336087" "04173" "00446883" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" "0000336095" "04173" "00446891" "00006" "Di-genic" "35y" "see paper; ..., left ventricular non-compaction cardiomyopathy" "" "" "" "" "" "" "" "" "" "left ventricular noncompaction" "" "0000345817" "05611" "00457354" "00006" "Isolated (sporadic)" "6y" "see paper; ..., birth 32w+6; prenatal IUGR, premature, anhydramnios after AROM with CAF; Infant feeding difficulties; failure to thrive; speech problems, 60 words in vocabulary; motor delay; speech regression; anxiety; trichotillomania; no macrocephaly; -(10th centile); MRI brain normal; EEG brain generalized high amplitude spikes, poly spike, slow wave discharges, bilateral OIRDA; convulsive seizure with flu; symptomatic generalized epilepsy, non-convulsive absence seizures; hyporeflexia; short stature; hypotonia; medial eyebrow flare, hypertelorism, wide nasal root, depressed nasal tip, high broad forehead; cutis marmorata" "" "6y" "" "" "" "" "" "" "NEDLBF" "neurodevelopmental delay" "" ## Screenings ## Do not remove or alter this header ## ## Count = 25 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000080976" "00080864" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000210999" "00209942" "1" "00802" "00802" "2009-02-25 10:05:49" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000211000" "00209943" "1" "00802" "00802" "2009-02-25 10:26:53" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000211001" "00209944" "1" "00802" "00802" "2014-10-15 16:42:19" "" "" "SEQ" "DNA" "" "" "0000399358" "00398115" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399359" "00398116" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399425" "00398182" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399438" "00398195" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399439" "00398196" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399440" "00398197" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399441" "00398198" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399442" "00398199" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399443" "00398200" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399444" "00398201" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000419868" "00418573" "1" "00006" "00006" "2022-09-30 10:17:41" "" "" "SEQ" "DNA" "" "" "0000420956" "00419652" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445532" "00444035" "1" "01164" "01164" "2023-12-11 16:17:10" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000448330" "00446755" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448383" "00446808" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448384" "00446809" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448396" "00446821" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448458" "00446883" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448466" "00446891" "1" "00006" "00006" "2024-01-23 17:40:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000458975" "00457354" "1" "00006" "00006" "2024-11-08 11:01:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-trio" "0000462546" "00460914" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "mRNA splicing analysis on tissue" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{geneid}}" "0000080976" "TGFB3" "0000210999" "TGFB3" "0000211000" "TGFB3" "0000211001" "TGFB3" "0000399358" "TGFB3" "0000399359" "TGFB3" "0000399425" "NOTCH1" "0000399425" "TGFB3" "0000399438" "TGFB3" "0000399439" "TGFB3" "0000399440" "TGFB3" "0000399441" "TGFB3" "0000399442" "TGFB3" "0000399443" "TGFB3" "0000399444" "TGFB3" "0000419868" "TGFB3" "0000445532" "TGFB3" "0000462546" "TGFB3" ## 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 = 164 "{{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}}" "0000130062" "11" "90" "14" "76429687" "76429687" "subst" "0" "01758" "TGFB3_000031" "g.76429687G>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.75963344G>A" "" "pathogenic" "ACMG" "0000252770" "0" "50" "14" "76438002" "76438002" "subst" "0.000117776" "02326" "TGFB3_000041" "g.76438002A>C" "" "" "" "TGFB3(NM_003239.2):c.412T>G (p.S138A), TGFB3(NM_003239.5):c.412T>G (p.S138A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75971659A>C" "" "VUS" "" "0000255698" "0" "90" "14" "76431929" "76431929" "subst" "0" "01943" "TGFB3_000039" "g.76431929A>G" "" "" "" "TGFB3(NM_003239.2):c.754+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75965586A>G" "" "pathogenic" "" "0000256500" "0" "50" "14" "76425547" "76425547" "subst" "0" "01943" "TGFB3_000032" "g.76425547A>C" "" "" "" "TGFB3(NM_003239.2):c.1222T>G (p.S408A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75959204A>C" "" "VUS" "" "0000313288" "0" "50" "14" "76427271" "76427271" "subst" "0" "02329" "TGFB3_000035" "g.76427271T>G" "" "" "" "TGFB3(NM_003239.5):c.1075A>C (p.S359R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75960928T>G" "" "VUS" "" "0000313289" "0" "70" "14" "76425690" "76425690" "subst" "0" "02329" "TGFB3_000034" "g.76425690T>A" "" "" "" "TGFB3(NM_003239.5):c.1081-2A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75959347T>A" "" "likely pathogenic" "" "0000313290" "0" "10" "14" "76425647" "76425647" "subst" "0.00260981" "02329" "TGFB3_000020" "g.76425647G>C" "" "" "" "TGFB3(NM_003239.5):c.1122C>G (p.A374=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75959304G>C" "" "benign" "" "0000313292" "0" "30" "14" "76446949" "76446949" "subst" "0.00015024" "02329" "TGFB3_000045" "g.76446949G>A" "" "" "" "TGFB3(NM_003239.2):c.288C>T (p.T96=), TGFB3(NM_003239.5):c.288C>T (p.T96=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75980606G>A" "" "likely benign" "" "0000313293" "0" "30" "14" "76446869" "76446869" "subst" "0" "02329" "TGFB3_000042" "g.76446869G>A" "" "" "" "TGFB3(NM_003239.5):c.352+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75980526G>A" "" "likely benign" "" "0000313294" "0" "90" "14" "76429687" "76429687" "subst" "0" "02329" "TGFB3_000031" "g.76429687G>A" "" "" "" "TGFB3(NM_003239.5):c.898C>T (p.R300W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75963344G>A" "" "pathogenic" "" "0000313295" "0" "90" "14" "76429686" "76429686" "subst" "0" "02329" "TGFB3_000037" "g.76429686C>T" "" "" "" "TGFB3(NM_003239.5):c.899G>A (p.R300Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75963343C>T" "" "pathogenic" "" "0000314507" "0" "30" "14" "76446913" "76446913" "subst" "2.03034E-5" "02326" "TGFB3_000043" "g.76446913G>A" "" "" "" "TGFB3(NM_003239.2):c.324C>T (p.F108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75980570G>A" "" "likely benign" "" "0000314508" "0" "30" "14" "76429828" "76429828" "subst" "3.65741E-5" "02326" "TGFB3_000038" "g.76429828C>T" "" "" "" "TGFB3(NM_003239.2):c.757G>A (p.V253M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75963485C>T" "" "likely benign" "" "0000316510" "0" "30" "14" "76446949" "76446949" "subst" "0.00015024" "01943" "TGFB3_000045" "g.76446949G>A" "" "" "" "TGFB3(NM_003239.2):c.288C>T (p.T96=), TGFB3(NM_003239.5):c.288C>T (p.T96=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75980606G>A" "" "likely benign" "" "0000316511" "0" "50" "14" "76446944" "76446944" "subst" "0.000755263" "01943" "TGFB3_000044" "g.76446944G>A" "" "" "" "TGFB3(NM_003239.2):c.293C>T (p.S98L, p.(Ser98Leu)), TGFB3(NM_003239.5):c.293C>T (p.S98L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75980601G>A" "" "VUS" "" "0000316512" "0" "30" "14" "76446913" "76446913" "subst" "2.03034E-5" "01943" "TGFB3_000043" "g.76446913G>A" "" "" "" "TGFB3(NM_003239.2):c.324C>T (p.F108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75980570G>A" "" "likely benign" "" "0000316513" "0" "30" "14" "76437557" "76437557" "subst" "9.75237E-5" "01943" "TGFB3_000040" "g.76437557G>A" "" "" "" "TGFB3(NM_003239.2):c.558C>T (p.I186=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75971214G>A" "" "likely benign" "" "0000316514" "0" "30" "14" "76447141" "76447141" "subst" "5.68486E-5" "01943" "TGFB3_000047" "g.76447141G>A" "" "" "" "TGFB3(NM_003239.2):c.96C>T (p.F32=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75980798G>A" "" "likely benign" "" "0000316515" "0" "90" "14" "76427370" "76427370" "subst" "0" "01943" "TGFB3_000036" "g.76427370G>A" "" "" "" "TGFB3(NM_003239.2):c.976C>T (p.Q326*), TGFB3(NM_003239.5):c.976C>T (p.Q326*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75961027G>A" "" "pathogenic" "" "0000342576" "0" "90" "14" "76429686" "76429686" "subst" "0" "02327" "TGFB3_000037" "g.76429686C>T" "" "" "" "TGFB3(NM_003239.5):c.899G>A (p.R300Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75963343C>T" "" "pathogenic" "" "0000441420" "0" "11" "14" "76447275" "76447275" "del" "0" "00802" "TGFB3_000001" "g.76447275del" "" "" "" "-38delG" "" "Germline" "" "rs34262058" "0" "" "" "g.75980932del" "" "benign" "" "0000441421" "0" "11" "14" "76447198" "76447198" "subst" "0.000950208" "00802" "TGFB3_000003" "g.76447198G>A" "" "" "" "" "" "Germline" "" "rs11466415" "0" "" "" "g.75980855G>A" "" "benign" "" "0000441422" "0" "11" "14" "76447149" "76447149" "subst" "0.000483213" "00802" "TGFB3_000004" "g.76447149A>G" "" "" "" "" "" "Germline" "" "rs3917145" "0" "" "" "g.75980806A>G" "" "benign" "" "0000441423" "0" "11" "14" "76447067" "76447067" "subst" "0" "00802" "TGFB3_000005" "g.76447067G>A" "" "" "" "" "" "Germline" "" "rs34019007" "0" "" "" "g.75980724G>A" "" "benign" "" "0000441424" "0" "11" "14" "76447058" "76447058" "subst" "0.000162426" "00802" "TGFB3_000006" "g.76447058G>A" "" "" "" "" "" "Germline" "" "rs4252315" "0" "" "" "g.75980715G>A" "" "benign" "" "0000441425" "0" "11" "14" "76437867" "76437867" "subst" "0.000485568" "00802" "TGFB3_000007" "g.76437867G>A" "" "" "" "" "" "Germline" "" "rs3917174" "0" "" "" "g.75971524G>A" "" "benign" "" "0000441426" "0" "11" "14" "76437614" "76437614" "subst" "0.00150372" "00802" "TGFB3_000008" "g.76437614A>G" "" "" "" "" "" "Germline" "" "rs3917176" "0" "" "" "g.75971271A>G" "" "benign" "" "0000441427" "0" "11" "14" "76437604" "76437604" "subst" "3.65738E-5" "00802" "TGFB3_000009" "g.76437604G>C" "" "" "" "" "" "Germline" "" "rs45586636" "0" "" "" "g.75971261G>C" "" "benign" "" "0000441428" "0" "11" "14" "76437456" "76437456" "dup" "0" "00802" "TGFB3_000010" "g.76437456dup" "" "" "" "" "" "Germline" "" "rs35763256" "0" "" "" "g.75971113dup" "" "benign" "" "0000441429" "0" "11" "14" "76432136" "76432136" "subst" "0" "00802" "TGFB3_000011" "g.76432136T>C" "" "" "" "" "" "Germline" "" "rs3917187" "0" "" "" "g.75965793T>C" "" "benign" "" "0000441430" "0" "11" "14" "76432119" "76432119" "del" "0" "00802" "TGFB3_000012" "g.76432119del" "" "" "" "647-81delG" "" "Germline" "" "rs3917188" "0" "" "" "g.75965776del" "" "benign" "" "0000441431" "0" "11" "14" "76432119" "76432119" "del" "0" "00802" "TGFB3_000013" "g.76432119del" "" "" "" "647-80delG" "" "Germline" "" "rs4252338" "0" "" "" "g.75965776del" "" "benign" "" "0000441432" "0" "11" "14" "76432050" "76432050" "subst" "0.000923185" "00802" "TGFB3_000014" "g.76432050G>C" "" "" "" "" "" "Germline" "" "rs61762490" "0" "" "" "g.75965707G>C" "" "benign" "" "0000441433" "0" "11" "14" "76431894" "76431894" "dup" "0" "00802" "TGFB3_000015" "g.76431894dup" "" "" "" "" "" "Germline" "" "rs34756930" "0" "" "" "g.75965551dup" "" "benign" "" "0000441434" "0" "11" "14" "76431884" "76431884" "subst" "0" "00802" "TGFB3_000016" "g.76431884A>C" "" "" "" "" "" "Germline" "" "rs61979179" "0" "" "" "g.75965541A>C" "" "benign" "" "0000441435" "0" "11" "14" "76431857" "76431857" "subst" "0" "00802" "TGFB3_000017" "g.76431857G>T" "" "" "" "" "" "Germline" "" "rs3917189" "0" "" "" "g.75965514G>T" "" "benign" "" "0000441436" "0" "11" "14" "76429868" "76429868" "subst" "0.0917413" "00802" "TGFB3_000018" "g.76429868A>G" "" "" "" "" "" "Germline" "" "rs3917200" "0" "" "" "g.75963525A>G" "" "benign" "" "0000441437" "0" "11" "14" "76429673" "76429673" "subst" "0" "00802" "TGFB3_000019" "g.76429673G>C" "" "" "" "" "" "Germline" "" "rs45606438" "0" "" "" "g.75963330G>C" "" "benign" "" "0000441438" "0" "11" "14" "76425647" "76425647" "subst" "0.00260981" "00802" "TGFB3_000020" "g.76425647G>C" "" "" "" "" "" "Germline" "" "rs4252345" "0" "" "" "g.75959304G>C" "" "benign" "" "0000441439" "0" "11" "14" "76425522" "76425522" "subst" "5.27975E-5" "00802" "TGFB3_000021" "g.76425522G>A" "" "" "" "" "" "Germline" "" "rs3917215" "0" "" "" "g.75959179G>A" "" "benign" "" "0000441440" "0" "11" "14" "76425521" "76425521" "subst" "0.00145387" "00802" "TGFB3_000022" "g.76425521C>T" "" "" "" "" "" "Germline" "" "rs4252346" "0" "" "" "g.75959178C>T" "" "benign" "" "0000442396" "0" "99" "14" "76447266" "76447266" "subst" "3.67287E-5" "00802" "TGFB3_000002" "g.76447266C>T" "" "{PMID:Pilichou 2006:16505173}, Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7508" "" "-36G>A" "Possible inhibitory effect" "Germline" "" "" "0" "" "" "g.75980923C>T" "" "pathogenic" "" "0000442397" "0" "99" "14" "76425035" "76425035" "subst" "0" "00802" "TGFB3_000023" "g.76425035G>A" "" "{PMID:Basso:16774985}, Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7509" "" "1723C>T" "Predicted regulatory role" "Germline" "" "" "0" "" "" "g.75958692G>A" "" "pathogenic" "" "0000442398" "0" "55" "14" "76447049" "76447049" "subst" "4.06055E-5" "00802" "TGFB3_000024" "g.76447049G>T" "" "unpublished, ARVD/C database 8371" "" "" "" "Germline" "" "" "0" "" "" "g.75980706G>T" "" "VUS" "" "0000553085" "0" "50" "14" "76425594" "76425594" "subst" "2.84319E-5" "01943" "TTLL5_000063" "g.76425594A>G" "" "" "" "TGFB3(NM_001329939.1):c.1175T>C (p.V392A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75959251A>G" "" "VUS" "" "0000553086" "0" "50" "14" "76427388" "76427388" "subst" "0" "01943" "TGFB3_000048" "g.76427388G>A" "" "" "" "TGFB3(NM_001329939.1):c.958C>T (p.L320F), TGFB3(NM_003239.5):c.958C>T (p.L320F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75961045G>A" "" "VUS" "" "0000553087" "0" "50" "14" "76429712" "76429712" "subst" "8.93517E-5" "02329" "TGFB3_000049" "g.76429712C>T" "" "" "" "TGFB3(NM_003239.2):c.873G>A (p.P291=), TGFB3(NM_003239.5):c.873G>A (p.P291=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75963369C>T" "" "VUS" "" "0000553088" "0" "50" "14" "76429772" "76429772" "subst" "6.90445E-5" "02326" "TGFB3_000050" "g.76429772C>G" "" "" "" "TGFB3(NM_001329939.1):c.813G>C (p.K271N), TGFB3(NM_003239.2):c.813G>C (p.K271N), TGFB3(NM_003239.5):c.813G>C (p.K271N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75963429C>G" "" "VUS" "" "0000553089" "0" "30" "14" "76429772" "76429772" "subst" "6.90445E-5" "02329" "TGFB3_000050" "g.76429772C>G" "" "" "" "TGFB3(NM_001329939.1):c.813G>C (p.K271N), TGFB3(NM_003239.2):c.813G>C (p.K271N), TGFB3(NM_003239.5):c.813G>C (p.K271N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75963429C>G" "" "likely benign" "" "0000553090" "0" "30" "14" "76429788" "76429788" "subst" "9.74849E-5" "02326" "TGFB3_000051" "g.76429788C>T" "" "" "" "TGFB3(NM_003239.2):c.797G>A (p.R266H), TGFB3(NM_003239.5):c.797G>A (p.R266H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75963445C>T" "" "likely benign" "" "0000553091" "0" "50" "14" "76429788" "76429788" "subst" "9.74849E-5" "02329" "TGFB3_000051" "g.76429788C>T" "" "" "" "TGFB3(NM_003239.2):c.797G>A (p.R266H), TGFB3(NM_003239.5):c.797G>A (p.R266H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75963445C>T" "" "VUS" "" "0000553092" "0" "30" "14" "76429821" "76429821" "subst" "0" "02326" "TGFB3_000052" "g.76429821T>C" "" "" "" "TGFB3(NM_003239.2):c.764A>G (p.N255S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75963478T>C" "" "likely benign" "" "0000553093" "0" "30" "14" "76431941" "76431941" "subst" "0.00132812" "01943" "TGFB3_000053" "g.76431941G>T" "" "" "" "TGFB3(NM_003239.2):c.744C>A (p.I248=), TGFB3(NM_003239.5):c.744C>A (p.I248=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75965598G>T" "" "likely benign" "" "0000553094" "0" "10" "14" "76431941" "76431941" "subst" "0.00132812" "02326" "TGFB3_000053" "g.76431941G>T" "" "" "" "TGFB3(NM_003239.2):c.744C>A (p.I248=), TGFB3(NM_003239.5):c.744C>A (p.I248=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75965598G>T" "" "benign" "" "0000553095" "0" "30" "14" "76431941" "76431941" "subst" "0.00132812" "02329" "TGFB3_000053" "g.76431941G>T" "" "" "" "TGFB3(NM_003239.2):c.744C>A (p.I248=), TGFB3(NM_003239.5):c.744C>A (p.I248=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75965598G>T" "" "likely benign" "" "0000553096" "0" "50" "14" "76432002" "76432002" "subst" "0" "02329" "TGFB3_000054" "g.76432002G>A" "" "" "" "TGFB3(NM_003239.5):c.683C>T (p.P228L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75965659G>A" "" "VUS" "" "0000553097" "0" "30" "14" "76437524" "76437524" "subst" "4.06425E-5" "02326" "TGFB3_000055" "g.76437524G>A" "" "" "" "TGFB3(NM_003239.2):c.591C>T (p.A197=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75971181G>A" "" "likely benign" "" "0000553098" "0" "50" "14" "76437556" "76437556" "subst" "3.65723E-5" "02329" "TGFB3_000056" "g.76437556C>T" "" "" "" "TGFB3(NM_003239.2):c.559G>A (p.(Gly187Ser)), TGFB3(NM_003239.5):c.559G>A (p.G187S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75971213C>T" "" "VUS" "" "0000553099" "0" "10" "14" "76437614" "76437614" "subst" "0.00150372" "02326" "TGFB3_000008" "g.76437614A>G" "" "" "" "TGFB3(NM_003239.2):c.517-16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75971271A>G" "" "benign" "" "0000553100" "0" "30" "14" "76437943" "76437943" "subst" "0" "02326" "TGFB3_000057" "g.76437943G>A" "" "" "" "TGFB3(NM_003239.2):c.471C>T (p.P157=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75971600G>A" "" "likely benign" "" "0000553101" "0" "50" "14" "76438002" "76438002" "subst" "0.000117776" "02329" "TGFB3_000041" "g.76438002A>C" "" "" "" "TGFB3(NM_003239.2):c.412T>G (p.S138A), TGFB3(NM_003239.5):c.412T>G (p.S138A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75971659A>C" "" "VUS" "" "0000553102" "0" "50" "14" "76438025" "76438025" "subst" "1.21837E-5" "02329" "TGFB3_000058" "g.76438025T>C" "" "" "" "TGFB3(NM_003239.5):c.389A>G (p.K130R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75971682T>C" "" "VUS" "" "0000553103" "0" "30" "14" "76438060" "76438060" "subst" "6.50216E-5" "01943" "TGFB3_000059" "g.76438060G>A" "" "" "" "TGFB3(NM_001329939.1):c.354C>T (p.N118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75971717G>A" "" "likely benign" "" "0000553104" "0" "30" "14" "76446949" "76446949" "subst" "0.00015024" "02326" "TGFB3_000045" "g.76446949G>A" "" "" "" "TGFB3(NM_003239.2):c.288C>T (p.T96=), TGFB3(NM_003239.5):c.288C>T (p.T96=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75980606G>A" "" "likely benign" "" "0000553105" "0" "50" "14" "76446962" "76446962" "subst" "0" "02326" "TGFB3_000060" "g.76446962G>T" "" "" "" "TGFB3(NM_003239.2):c.275C>A (p.T92N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75980619G>T" "" "VUS" "" "0000553106" "0" "90" "14" "76447007" "76447007" "del" "0" "01943" "TGFB3_000061" "g.76447007del" "" "" "" "TGFB3(NM_001329939.1):c.232delG (p.E78Sfs*33)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75980664del" "" "pathogenic" "" "0000553107" "0" "50" "14" "76447041" "76447041" "subst" "0" "02329" "TGFB3_000062" "g.76447041G>A" "" "" "" "TGFB3(NM_003239.5):c.196C>T (p.P66S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75980698G>A" "" "VUS" "" "0000553108" "0" "30" "14" "76447058" "76447058" "subst" "0.000162426" "02326" "TGFB3_000006" "g.76447058G>A" "" "" "" "TGFB3(NM_003239.2):c.179C>T (p.T60M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75980715G>A" "" "likely benign" "" "0000553109" "0" "90" "14" "76447072" "76447072" "dup" "0" "02329" "TGFB3_000063" "g.76447072dup" "" "" "" "TGFB3(NM_003239.5):c.170dupC (p.E58*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75980729dup" "" "pathogenic" "" "0000553110" "0" "10" "14" "76447198" "76447198" "subst" "0.000950208" "01943" "TGFB3_000003" "g.76447198G>A" "" "" "" "TGFB3(NM_001329939.1):c.39C>T (p.A13=), TGFB3(NM_003239.5):c.39C>T (p.A13=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75980855G>A" "" "benign" "" "0000553111" "0" "30" "14" "76452145" "76452145" "subst" "0.000454955" "01804" "IFT43_000008" "g.76452145G>C" "" "" "" "IFT43(NM_001102564.1):c.16G>C (p.(Asp6His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75985802G>C" "" "likely benign" "" "0000615099" "0" "30" "14" "76438066" "76438066" "subst" "0" "02327" "TGFB3_000064" "g.76438066G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75971723G>A" "" "likely benign" "" "0000615100" "0" "50" "14" "76447066" "76447066" "del" "0" "02327" "TGFB3_000065" "g.76447066del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75980723del" "" "VUS" "" "0000615101" "0" "50" "14" "76447155" "76447155" "subst" "7.30911E-5" "01943" "IFT43_000016" "g.76447155T>G" "" "" "" "TGFB3(NM_001329939.1):c.82A>C (p.T28P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75980812T>G" "" "VUS" "" "0000623167" "0" "50" "14" "76425035" "76425035" "subst" "0" "02326" "TGFB3_000023" "g.76425035G>A" "" "" "" "TGFB3(NM_003239.2):c.*495C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75958692G>A" "" "VUS" "" "0000623168" "0" "30" "14" "76425539" "76425539" "subst" "5.68551E-5" "01943" "TTLL5_000069" "g.76425539T>C" "" "" "" "TGFB3(NM_001329939.1):c.1230A>G (p.K410=), TGFB3(NM_003239.5):c.1230A>G (p.K410=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75959196T>C" "" "likely benign" "" "0000623169" "0" "30" "14" "76425584" "76425584" "subst" "2.8431E-5" "01943" "TTLL5_000070" "g.76425584G>A" "" "" "" "TGFB3(NM_003239.2):c.1185C>T (p.T395=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75959241G>A" "" "likely benign" "" "0000657492" "0" "30" "14" "76437557" "76437557" "subst" "9.75237E-5" "02326" "TGFB3_000040" "g.76437557G>A" "" "" "" "TGFB3(NM_003239.2):c.558C>T (p.I186=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75971214G>A" "" "likely benign" "" "0000657493" "0" "30" "14" "76437596" "76437596" "subst" "4.06336E-5" "01943" "TGFB3_000066" "g.76437596G>A" "" "" "" "TGFB3(NM_003239.2):c.519C>T (p.I173=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75971253G>A" "" "likely benign" "" "0000657494" "0" "30" "14" "76438190" "76438190" "subst" "0" "02329" "TGFB3_000067" "g.76438190C>A" "" "" "" "TGFB3(NM_003239.5):c.353-129G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75971847C>A" "" "likely benign" "" "0000680052" "0" "50" "14" "76425631" "76425631" "subst" "0" "02326" "TTLL5_000075" "g.76425631G>A" "" "" "" "TGFB3(NM_001329939.1):c.1138C>T (p.P380S), TGFB3(NM_003239.2):c.1138C>T (p.P380S), TGFB3(NM_003239.5):c.1138C>T (p.P380S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680053" "0" "30" "14" "76427138" "76427138" "subst" "0" "02329" "TGFB3_000068" "g.76427138C>T" "" "" "" "TGFB3(NM_003239.5):c.1080+128G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680054" "0" "50" "14" "76429712" "76429712" "subst" "8.93517E-5" "02326" "TGFB3_000049" "g.76429712C>T" "" "" "" "TGFB3(NM_003239.2):c.873G>A (p.P291=), TGFB3(NM_003239.5):c.873G>A (p.P291=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691713" "0" "30" "14" "76432050" "76432050" "subst" "0.000923185" "02329" "TGFB3_000014" "g.76432050G>C" "" "" "" "TGFB3(NM_003239.5):c.647-12C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691714" "0" "30" "14" "76452150" "76452150" "subst" "0.000337165" "01943" "IFT43_000028" "g.76452150G>A" "" "" "" "IFT43(NM_001255995.1):c.21G>A (p.L7=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724873" "0" "90" "14" "76429707" "76429707" "del" "0" "01943" "TGFB3_000069" "g.76429707del" "" "" "" "TGFB3(NM_001329939.1):c.878delA (p.Q293Rfs*76), TGFB3(NM_003239.5):c.878delA (p.Q293Rfs*76)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000724874" "0" "50" "14" "76438002" "76438002" "subst" "0.000117776" "01943" "TGFB3_000041" "g.76438002A>C" "" "" "" "TGFB3(NM_003239.2):c.412T>G (p.S138A), TGFB3(NM_003239.5):c.412T>G (p.S138A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724875" "0" "50" "14" "76438060" "76438060" "subst" "0" "02329" "TGFB3_000070" "g.76438060G>T" "" "" "" "TGFB3(NM_001329939.1):c.354C>A (p.N118K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724876" "0" "30" "14" "76438872" "76438872" "subst" "0" "02329" "TGFB3_000071" "g.76438872A>G" "" "" "" "TGFB3(NM_003239.5):c.353-811T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724877" "0" "30" "14" "76447066" "76447066" "subst" "8.12117E-6" "02326" "TGFB3_000072" "g.76447066A>C" "" "" "" "TGFB3(NM_003239.2):c.171T>G (p.P57=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806503" "0" "50" "14" "76425631" "76425631" "subst" "0" "01943" "TTLL5_000075" "g.76425631G>A" "" "" "" "TGFB3(NM_001329939.1):c.1138C>T (p.P380S), TGFB3(NM_003239.2):c.1138C>T (p.P380S), TGFB3(NM_003239.5):c.1138C>T (p.P380S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806504" "0" "30" "14" "76429807" "76429807" "subst" "4.0621E-6" "01943" "TGFB3_000073" "g.76429807C>T" "" "" "" "TGFB3(NM_003239.2):c.778G>A (p.G260S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806505" "0" "30" "14" "76437537" "76437537" "subst" "0" "02326" "TGFB3_000074" "g.76437537G>A" "" "" "" "TGFB3(NM_003239.2):c.578C>T (p.T193I), TGFB3(NM_003239.5):c.578C>T (p.T193I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000831719" "1" "90" "14" "76429686" "76429686" "subst" "0" "00006" "TGFB3_000037" "g.76429686C>T" "1/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "yes" "" "0" "" "" "g.75963343C>T" "" "pathogenic" "" "0000831720" "1" "70" "14" "76427271" "76427271" "subst" "0" "00006" "TGFB3_000035" "g.76427271T>G" "1/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.75960928T>G" "" "likely pathogenic" "" "0000831799" "1" "50" "14" "76447041" "76447041" "subst" "0" "00006" "TGFB3_000062" "g.76447041G>A" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.75980698G>A" "" "VUS" "" "0000831800" "0" "50" "14" "76438025" "76438025" "subst" "1.21837E-5" "00006" "TGFB3_000058" "g.76438025T>C" "" "{PMID:Overwater 2018:29907982}" "" "" "somatic mosaicism" "Somatic" "" "" "0" "" "" "g.75971682T>C" "" "VUS" "" "0000831801" "21" "50" "14" "76438002" "76438002" "subst" "0.000117776" "00006" "TGFB3_000041" "g.76438002A>C" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.75971659A>C" "" "VUS" "" "0000831802" "0" "50" "14" "76437556" "76437556" "subst" "3.65723E-5" "00006" "TGFB3_000056" "g.76437556C>T" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.75971213C>T" "" "VUS" "" "0000831803" "1" "50" "14" "76429788" "76429788" "subst" "9.74849E-5" "00006" "TGFB3_000051" "g.76429788C>T" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.75963445C>T" "" "VUS" "" "0000831804" "1" "50" "14" "76429712" "76429712" "subst" "8.93517E-5" "00006" "TGFB3_000049" "g.76429712C>T" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.75963369C>T" "" "VUS" "" "0000831805" "1" "50" "14" "76429660" "76429660" "subst" "8.12513E-6" "00006" "TGFB3_000081" "g.76429660G>A" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.75963317G>A" "" "VUS" "" "0000831810" "1" "50" "14" "76432002" "76432002" "subst" "0" "00006" "TGFB3_000054" "g.76432002G>A" "" "{PMID:Overwater 2018:29907982}" "" "" "incomplete penetrance" "Germline" "" "" "0" "" "" "g.75965659G>A" "" "VUS (!)" "" "0000831938" "1" "90" "14" "76447131" "76447131" "subst" "0" "00006" "TGFB3_000087" "g.76447131T>A" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PVS1, PP3" "SUMMARY record" "" "" "0" "" "" "g.75980788T>A" "" "pathogenic" "ACMG" "0000831939" "1" "90" "14" "76437977" "76437977" "del" "0" "00006" "TGFB3_000086" "g.76437977del" "" "{PMID:Schepers 2018:29392890}" "" "c.437delT" "ACMG PM2, PVS1, PP3" "SUMMARY record" "" "" "0" "" "" "g.75971634del" "" "pathogenic" "ACMG" "0000831940" "1" "90" "14" "76431982" "76431982" "del" "0" "00006" "TGFB3_000085" "g.76431982del" "" "{PMID:Schepers 2018:29392890}" "" "c.704delA" "ACMG PM2, PVS1, PP3, PP1" "SUMMARY record" "" "" "0" "" "" "g.75965639del" "" "pathogenic" "ACMG" "0000831941" "1" "90" "14" "76431929" "76431929" "subst" "0" "00006" "TGFB3_000039" "g.76431929A>G" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PVS1, PP3, PP1" "SUMMARY record" "" "" "0" "" "" "g.75965586A>G" "" "pathogenic" "ACMG" "0000831942" "1" "70" "14" "76429798" "76429798" "subst" "0" "00006" "TGFB3_000084" "g.76429798C>G" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PP3, PS1, PP2, PP1" "SUMMARY record" "" "" "0" "" "" "g.75963455C>G" "" "likely pathogenic" "ACMG" "0000831943" "1" "50" "14" "76429789" "76429789" "subst" "8.12381E-6" "00006" "TGFB3_000083" "g.76429789G>A" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PP3, PP1" "SUMMARY record" "" "" "0" "" "" "g.75963446G>A" "" "VUS" "ACMG" "0000831944" "1" "90" "14" "76429687" "76429687" "subst" "0" "00006" "TGFB3_000031" "g.76429687G>A" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PP3, PS1, PP2, PP1-M" "SUMMARY record" "" "" "0" "" "" "g.75963344G>A" "" "pathogenic" "ACMG" "0000831945" "1" "90" "14" "76429686" "76429686" "subst" "0" "00006" "TGFB3_000037" "g.76429686C>T" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PS1, PP3, PM5, PM1" "SUMMARY record" "" "" "0" "" "" "g.75963343C>T" "" "pathogenic" "ACMG" "0000831946" "1" "70" "14" "76429687" "76429687" "subst" "0" "00006" "TGFB3_000082" "g.76429687G>C" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PM5, PP3, PM1, PP2, PP1" "SUMMARY record" "" "" "0" "" "" "g.75963344G>C" "" "likely pathogenic" "ACMG" "0000831947" "1" "70" "14" "76427381" "76427381" "subst" "8.12176E-6" "00006" "TGFB3_000080" "g.76427381A>G" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PP3, PP2, PM1, PP1-M, PP1" "SUMMARY record" "" "" "0" "" "" "g.75961038A>G" "" "likely pathogenic" "ACMG" "0000831948" "1" "70" "14" "76427367" "76427367" "subst" "4.06101E-6" "00006" "TGFB3_000079" "g.76427367C>A" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PP3, PP2, PM1, PP1-M, PP1" "SUMMARY record" "" "" "0" "" "" "g.75961024C>A" "" "likely pathogenic" "ACMG" "0000831949" "1" "90" "14" "76425674" "76425674" "subst" "0" "00006" "TGFB3_000078" "g.76425674G>T" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PVS1, PP3, PM1, PS2" "SUMMARY record" "" "" "0" "" "" "g.75959331G>T" "" "pathogenic" "ACMG" "0000831950" "1" "90" "14" "76425612" "76425612" "del" "0" "00006" "TGFB3_000077" "g.76425612del" "" "{PMID:Schepers 2018:29392890}" "" "c.1157delT" "ACMG PM2, PVS1, PP3" "SUMMARY record" "" "" "0" "" "" "g.75959269del" "" "pathogenic" "ACMG" "0000831951" "1" "70" "14" "76425567" "76425567" "subst" "0" "00006" "TGFB3_000076" "g.76425567A>G" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PM5, PP3, PM1, PP2" "SUMMARY record" "" "" "0" "" "" "g.75959224A>G" "" "likely pathogenic" "ACMG" "0000831952" "1" "90" "14" "76425543" "76425543" "subst" "0" "00006" "TGFB3_000075" "g.76425543C>T" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PP3, PM1, PP2, PS3" "SUMMARY record" "" "" "0" "" "" "g.75959200C>T" "" "pathogenic" "ACMG" "0000863680" "0" "70" "14" "76429659" "76429659" "subst" "0" "02329" "TGFB3_000088" "g.76429659C>T" "" "" "" "TGFB3(NM_003239.5):c.926G>A (p.R309H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000863681" "0" "50" "14" "76437556" "76437556" "subst" "3.65723E-5" "01804" "TGFB3_000056" "g.76437556C>T" "" "" "" "TGFB3(NM_003239.2):c.559G>A (p.(Gly187Ser)), TGFB3(NM_003239.5):c.559G>A (p.G187S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863682" "0" "30" "14" "76452139" "76452139" "subst" "0" "01943" "IFT43_000034" "g.76452139T>A" "" "" "" "IFT43(NM_001255995.1):c.10T>A (p.L4M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863683" "0" "30" "14" "76452202" "76452202" "subst" "0.000279495" "02330" "IFT43_000035" "g.76452202G>C" "" "" "" "IFT43(NM_001255995.3):c.54+19G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000880040" "0" "90" "14" "76447131" "76447131" "subst" "0" "00006" "TGFB3_000087" "g.76447131T>A" "" "{PMID:Almpani 2022:34916229}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.75980788T>A" "" "pathogenic" "" "0000881315" "0" "50" "14" "76429800" "76429800" "subst" "0" "02300" "TGFB3_000089" "g.76429800C>A" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM2, PP2, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.75963457C>A" "" "VUS" "ACMG" "0000891897" "0" "10" "14" "76447198" "76447198" "subst" "0.000950208" "02329" "TGFB3_000003" "g.76447198G>A" "" "" "" "TGFB3(NM_001329939.1):c.39C>T (p.A13=), TGFB3(NM_003239.5):c.39C>T (p.A13=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000908376" "0" "70" "14" "76438010" "76438010" "subst" "0" "03779" "TGFB3_000090" "g.76438010T>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000914220" "0" "50" "14" "76447112" "76447112" "subst" "4.06055E-6" "02329" "IFT43_000043" "g.76447112G>C" "" "" "" "TGFB3(NM_003239.5):c.125C>G (p.A42G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925917" "0" "50" "14" "76427388" "76427388" "subst" "0" "02329" "TGFB3_000048" "g.76427388G>A" "" "" "" "TGFB3(NM_001329939.1):c.958C>T (p.L320F), TGFB3(NM_003239.5):c.958C>T (p.L320F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930335" "0" "30" "14" "76437271" "76437271" "subst" "0" "02329" "TGFB3_000091" "g.76437271C>T" "" "" "" "TGFB3(NM_003239.5):c.646+198G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930336" "0" "30" "14" "76446944" "76446944" "subst" "0.000755263" "02329" "TGFB3_000044" "g.76446944G>A" "" "" "" "TGFB3(NM_003239.2):c.293C>T (p.S98L, p.(Ser98Leu)), TGFB3(NM_003239.5):c.293C>T (p.S98L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930337" "0" "90" "14" "76447210" "76447210" "del" "0" "02329" "IFT43_000046" "g.76447210del" "" "" "" "TGFB3(NM_003239.5):c.28delG (p.V10Wfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950291" "0" "30" "14" "76425539" "76425539" "subst" "5.68551E-5" "02329" "TTLL5_000069" "g.76425539T>C" "" "" "" "TGFB3(NM_001329939.1):c.1230A>G (p.K410=), TGFB3(NM_003239.5):c.1230A>G (p.K410=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950292" "0" "90" "14" "76427370" "76427370" "subst" "0" "02329" "TGFB3_000036" "g.76427370G>A" "" "" "" "TGFB3(NM_003239.2):c.976C>T (p.Q326*), TGFB3(NM_003239.5):c.976C>T (p.Q326*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950293" "0" "30" "14" "76432052" "76432052" "subst" "0" "02329" "TGFB3_000092" "g.76432052C>T" "" "" "" "TGFB3(NM_003239.5):c.647-14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000952548" "0" "70" "14" "76429706" "76429706" "del" "0" "01164" "TGFB3_000093" "g.76429706del" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "?" "" "0" "" "" "g.75963363del" "" "likely pathogenic (dominant)" "ACMG" "0000957737" "0" "30" "14" "76446944" "76446944" "subst" "0.000755263" "00006" "TGFB3_000044" "g.76446944G>A" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.75980601G>A" "" "likely benign" "" "0000957803" "0" "30" "14" "76446944" "76446944" "subst" "0.000755263" "00006" "TGFB3_000044" "g.76446944G>A" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.75980601G>A" "" "likely benign" "" "0000957874" "0" "70" "14" "76446886" "76446886" "subst" "9.34238E-5" "00006" "TGFB3_000094" "g.76446886G>A" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.75980543G>A" "" "VUS" "" "0000957877" "0" "70" "14" "76446886" "76446886" "subst" "9.34238E-5" "00006" "TGFB3_000094" "g.76446886G>A" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.75980543G>A" "" "VUS" "" "0000957885" "0" "30" "14" "76446944" "76446944" "subst" "0.000755263" "00006" "TGFB3_000044" "g.76446944G>A" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.75980601G>A" "" "likely benign" "" "0000957940" "0" "50" "14" "76429800" "76429800" "subst" "0" "00006" "TGFB3_000089" "g.76429800C>A" "" "{PMID:Myasnikov 2021:34202524}" "" "" "" "Germline" "" "rs1595339233" "0" "" "" "g.75963457C>A" "" "VUS" "" "0000967557" "0" "30" "14" "76420765" "76420765" "subst" "0" "02330" "TTLL5_000121" "g.76420765A>G" "" "" "" "TTLL5(NM_015072.5):c.3824-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967558" "0" "50" "14" "76425631" "76425631" "subst" "0" "02329" "TTLL5_000075" "g.76425631G>A" "" "" "" "TGFB3(NM_001329939.1):c.1138C>T (p.P380S), TGFB3(NM_003239.2):c.1138C>T (p.P380S), TGFB3(NM_003239.5):c.1138C>T (p.P380S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967559" "0" "30" "14" "76427492" "76427492" "subst" "0" "02329" "TGFB3_000095" "g.76427492T>G" "" "" "" "TGFB3(NM_003239.5):c.927-73A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967560" "0" "30" "14" "76427592" "76427592" "subst" "0" "02329" "TGFB3_000096" "g.76427592G>T" "" "" "" "TGFB3(NM_003239.5):c.927-173C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967561" "0" "90" "14" "76429707" "76429707" "del" "0" "02329" "TGFB3_000069" "g.76429707del" "" "" "" "TGFB3(NM_001329939.1):c.878delA (p.Q293Rfs*76), TGFB3(NM_003239.5):c.878delA (p.Q293Rfs*76)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000967562" "0" "50" "14" "76429772" "76429772" "subst" "6.90445E-5" "01943" "TGFB3_000050" "g.76429772C>G" "" "" "" "TGFB3(NM_001329939.1):c.813G>C (p.K271N), TGFB3(NM_003239.2):c.813G>C (p.K271N), TGFB3(NM_003239.5):c.813G>C (p.K271N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967563" "0" "30" "14" "76429772" "76429772" "subst" "6.90445E-5" "02327" "TGFB3_000050" "g.76429772C>G" "" "" "" "TGFB3(NM_001329939.1):c.813G>C (p.K271N), TGFB3(NM_003239.2):c.813G>C (p.K271N), TGFB3(NM_003239.5):c.813G>C (p.K271N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967564" "0" "10" "14" "76432106" "76432106" "subst" "0" "02329" "TGFB3_000097" "g.76432106T>C" "" "" "" "TGFB3(NM_003239.5):c.647-68A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000967565" "0" "30" "14" "76437706" "76437706" "subst" "0" "02329" "TGFB3_000098" "g.76437706G>C" "" "" "" "TGFB3(NM_003239.5):c.517-108C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981014" "0" "90" "14" "76446941" "76446941" "del" "0" "02329" "TGFB3_000099" "g.76446941del" "" "" "" "TGFB3(NM_003239.5):c.297delA (p.E99Dfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001001150" "0" "50" "14" "76427271" "76427271" "subst" "0" "02325" "TGFB3_000035" "g.76427271T>G" "" "" "" "TGFB3(NM_003239.5):c.1075A>C (p.S359R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001151" "0" "30" "14" "76431894" "76431894" "subst" "2.43887E-5" "02329" "TGFB3_000100" "g.76431894C>A" "" "" "" "TGFB3(NM_003239.5):c.754+37G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001152" "0" "50" "14" "76437969" "76437969" "subst" "0" "02329" "TGFB3_000101" "g.76437969C>T" "" "" "" "TGFB3(NM_003239.5):c.445G>A (p.A149T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001153" "0" "30" "14" "76438314" "76438314" "subst" "0" "02329" "TGFB3_000102" "g.76438314C>G" "" "" "" "TGFB3(NM_003239.5):c.353-253G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001154" "0" "30" "14" "76446944" "76446944" "subst" "0.000755263" "01804" "TGFB3_000044" "g.76446944G>A" "" "" "" "TGFB3(NM_003239.2):c.293C>T (p.S98L, p.(Ser98Leu)), TGFB3(NM_003239.5):c.293C>T (p.S98L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015174" "0" "50" "14" "76437537" "76437537" "subst" "0" "02329" "TGFB3_000074" "g.76437537G>A" "" "" "" "TGFB3(NM_003239.2):c.578C>T (p.T193I), TGFB3(NM_003239.5):c.578C>T (p.T193I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015175" "0" "30" "14" "76437988" "76437988" "subst" "1.62446E-5" "02329" "TGFB3_000103" "g.76437988A>G" "" "" "" "TGFB3(NM_003239.5):c.426T>C (p.N142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001016637" "0" "70" "14" "76429759" "76429759" "subst" "0" "00006" "TGFB3_000104" "g.76429759G>A" "" "{PMID:Jia 2022:35977029}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.75963416G>A" "" "likely pathogenic" "" "0001019154" "0" "30" "14" "76437535" "76437535" "subst" "1.21928E-5" "03779" "TGFB3_000105" "g.76437535G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs368004396" "0" "" "" "" "" "likely benign" "" "0001022073" "0" "90" "14" "76447007" "76447007" "del" "0" "04796" "TGFB3_000061" "g.76447007del" "" "" "" "" "no effect on RNA" "Germline/De novo (untested)" "" "" "0" "" "" "g.75980664del" "" "pathogenic" "" "0001026404" "0" "50" "14" "76425703" "76425705" "del" "0" "02329" "TTLL5_000137" "g.76425703_76425705del" "" "" "" "TGFB3(NM_003239.5):c.1081-17_1081-15delGAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001030070" "0" "50" "14" "76437927" "76437927" "subst" "8.1244E-6" "03779" "TGFB3_000106" "g.76437927G>A" "" "" "" "" "" "Unknown" "" "rs142601521" "0" "" "" "" "" "VUS" "" "0001046482" "0" "50" "14" "76429713" "76429713" "subst" "2.84306E-5" "02325" "TGFB3_000107" "g.76429713G>A" "" "" "" "TGFB3(NM_003239.5):c.872C>T (p.P291L)" "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 TGFB3 ## Count = 164 "{{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/Protein/Domain}}" "0000130062" "00021045" "90" "898" "0" "898" "0" "c.898C>T" "r.(?)" "p.(Arg300Trp)" "" "" "0000252770" "00021045" "50" "412" "0" "412" "0" "c.412T>G" "r.(?)" "p.(Ser138Ala)" "" "" "0000255698" "00021045" "90" "754" "2" "754" "2" "c.754+2T>C" "r.spl?" "p.?" "" "" "0000256500" "00021045" "50" "1222" "0" "1222" "0" "c.1222T>G" "r.(?)" "p.(Ser408Ala)" "" "" "0000313288" "00021045" "50" "1075" "0" "1075" "0" "c.1075A>C" "r.(?)" "p.(Ser359Arg)" "" "" "0000313289" "00021045" "70" "1081" "-2" "1081" "-2" "c.1081-2A>T" "r.spl?" "p.?" "" "" "0000313290" "00021045" "10" "1122" "0" "1122" "0" "c.1122C>G" "r.(?)" "p.(Ala374=)" "" "" "0000313292" "00021045" "30" "288" "0" "288" "0" "c.288C>T" "r.(?)" "p.(Thr96=)" "" "" "0000313293" "00021045" "30" "352" "16" "352" "16" "c.352+16C>T" "r.(=)" "p.(=)" "" "" "0000313294" "00021045" "90" "898" "0" "898" "0" "c.898C>T" "r.(?)" "p.(Arg300Trp)" "" "" "0000313295" "00021045" "90" "899" "0" "899" "0" "c.899G>A" "r.(?)" "p.(Arg300Gln)" "" "" "0000314507" "00021045" "30" "324" "0" "324" "0" "c.324C>T" "r.(?)" "p.(Phe108=)" "" "" "0000314508" "00021045" "30" "757" "0" "757" "0" "c.757G>A" "r.(?)" "p.(Val253Met)" "" "" "0000316510" "00021045" "30" "288" "0" "288" "0" "c.288C>T" "r.(?)" "p.(Thr96=)" "" "" "0000316511" "00021045" "50" "293" "0" "293" "0" "c.293C>T" "r.(?)" "p.(Ser98Leu)" "" "" "0000316512" "00021045" "30" "324" "0" "324" "0" "c.324C>T" "r.(?)" "p.(Phe108=)" "" "" "0000316513" "00021045" "30" "558" "0" "558" "0" "c.558C>T" "r.(?)" "p.(Ile186=)" "" "" "0000316514" "00021045" "30" "96" "0" "96" "0" "c.96C>T" "r.(?)" "p.(Phe32=)" "" "" "0000316515" "00021045" "90" "976" "0" "976" "0" "c.976C>T" "r.(?)" "p.(Gln326Ter)" "" "" "0000342576" "00021045" "90" "899" "0" "899" "0" "c.899G>A" "r.(?)" "p.(Arg300Gln)" "" "" "0000441420" "00021045" "11" "-38" "0" "-38" "0" "c.-38del" "r.(?)" "p.(=)" "1" "" "0000441421" "00021045" "11" "39" "0" "39" "0" "c.39C>T" "r.(?)" "p.(=)" "1" "" "0000441422" "00021045" "11" "88" "0" "88" "0" "c.88T>C" "r.(?)" "p.(=)" "1" "" "0000441423" "00021045" "11" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.(Pro57Leu)" "1" "" "0000441424" "00021045" "11" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Thr60Met)" "1" "" "0000441425" "00021045" "11" "516" "31" "516" "31" "c.516+31C>T" "r.(?)" "p.(=)" "2i" "" "0000441426" "00021045" "11" "517" "-16" "517" "-16" "c.517-16T>C" "r.(?)" "p.(=)" "2i" "" "0000441427" "00021045" "11" "517" "-6" "517" "-6" "c.517-6C>G" "r.(?)" "p.(=)" "2i" "" "0000441428" "00021045" "11" "646" "14" "646" "14" "c.646+14dup" "r.(=)" "p.(=)" "3i" "" "0000441429" "00021045" "11" "647" "-98" "647" "-98" "c.647-98A>G" "r.(?)" "p.(=)" "3i" "" "0000441430" "00021045" "11" "647" "-80" "647" "-80" "c.647-80del" "r.(=)" "p.(=)" "3i" "" "0000441431" "00021045" "11" "647" "-80" "647" "-80" "c.647-80del" "r.(?)" "p.(=)" "3i" "" "0000441432" "00021045" "11" "647" "-12" "647" "-12" "c.647-12C>G" "r.(?)" "p.(=)" "3i" "" "0000441433" "00021045" "11" "754" "43" "754" "43" "c.754+43dup" "r.(=)" "p.(=)" "4i" "" "0000441434" "00021045" "11" "754" "47" "754" "47" "c.754+47T>G" "r.(?)" "p.(=)" "4i" "" "0000441435" "00021045" "11" "754" "74" "754" "74" "c.754+74C>A" "r.(?)" "p.(=)" "4i" "" "0000441436" "00021045" "11" "755" "-38" "755" "-38" "c.755-38T>C" "r.(?)" "p.(=)" "4i" "" "0000441437" "00021045" "11" "912" "0" "912" "0" "c.912C>G" "r.(?)" "p.(=)" "5" "" "0000441438" "00021045" "11" "1122" "0" "1122" "0" "c.1122C>G" "r.(?)" "p.(=)" "7" "" "0000441439" "00021045" "11" "1247" "0" "1247" "0" "c.*8C>T" "r.(?)" "p.(=)" "7" "" "0000441440" "00021045" "11" "1248" "0" "1248" "0" "c.*9G>A" "r.(?)" "p.(=)" "7" "" "0000442396" "00021045" "99" "-30" "0" "-30" "0" "c.-30G>A" "r.(?)" "p.(=)" "1" "" "0000442397" "00021045" "99" "1734" "0" "1734" "0" "c.*495C>T" "r.(?)" "p.(=)" "7" "" "0000442398" "00021045" "55" "188" "0" "188" "0" "c.188C>A" "r.(?)" "p.(Thr63Asn)" "1" "" "0000553085" "00021045" "50" "1175" "0" "1175" "0" "c.1175T>C" "r.(?)" "p.(Val392Ala)" "" "" "0000553086" "00021045" "50" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Leu320Phe)" "" "" "0000553087" "00021045" "50" "873" "0" "873" "0" "c.873G>A" "r.(?)" "p.(Pro291=)" "" "" "0000553088" "00021045" "50" "813" "0" "813" "0" "c.813G>C" "r.(?)" "p.(Lys271Asn)" "" "" "0000553089" "00021045" "30" "813" "0" "813" "0" "c.813G>C" "r.(?)" "p.(Lys271Asn)" "" "" "0000553090" "00021045" "30" "797" "0" "797" "0" "c.797G>A" "r.(?)" "p.(Arg266His)" "" "" "0000553091" "00021045" "50" "797" "0" "797" "0" "c.797G>A" "r.(?)" "p.(Arg266His)" "" "" "0000553092" "00021045" "30" "764" "0" "764" "0" "c.764A>G" "r.(?)" "p.(Asn255Ser)" "" "" "0000553093" "00021045" "30" "744" "0" "744" "0" "c.744C>A" "r.(?)" "p.(Ile248=)" "" "" "0000553094" "00021045" "10" "744" "0" "744" "0" "c.744C>A" "r.(?)" "p.(Ile248=)" "" "" "0000553095" "00021045" "30" "744" "0" "744" "0" "c.744C>A" "r.(?)" "p.(Ile248=)" "" "" "0000553096" "00021045" "50" "683" "0" "683" "0" "c.683C>T" "r.(?)" "p.(Pro228Leu)" "" "" "0000553097" "00021045" "30" "591" "0" "591" "0" "c.591C>T" "r.(?)" "p.(Ala197=)" "" "" "0000553098" "00021045" "50" "559" "0" "559" "0" "c.559G>A" "r.(?)" "p.(Gly187Ser)" "" "" "0000553099" "00021045" "10" "517" "-16" "517" "-16" "c.517-16T>C" "r.(=)" "p.(=)" "" "" "0000553100" "00021045" "30" "471" "0" "471" "0" "c.471C>T" "r.(?)" "p.(Pro157=)" "" "" "0000553101" "00021045" "50" "412" "0" "412" "0" "c.412T>G" "r.(?)" "p.(Ser138Ala)" "" "" "0000553102" "00021045" "50" "389" "0" "389" "0" "c.389A>G" "r.(?)" "p.(Lys130Arg)" "" "" "0000553103" "00021045" "30" "354" "0" "354" "0" "c.354C>T" "r.(?)" "p.(Asn118=)" "" "" "0000553104" "00021045" "30" "288" "0" "288" "0" "c.288C>T" "r.(?)" "p.(Thr96=)" "" "" "0000553105" "00021045" "50" "275" "0" "275" "0" "c.275C>A" "r.(?)" "p.(Thr92Asn)" "" "" "0000553106" "00021045" "90" "232" "0" "232" "0" "c.232del" "r.(?)" "p.(Glu78SerfsTer33)" "" "" "0000553107" "00021045" "50" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Pro66Ser)" "" "" "0000553108" "00021045" "30" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Thr60Met)" "" "" "0000553109" "00021045" "90" "170" "0" "170" "0" "c.170dup" "r.(?)" "p.(Glu58Ter)" "" "" "0000553110" "00021045" "10" "39" "0" "39" "0" "c.39C>T" "r.(?)" "p.(Ala13=)" "" "" "0000553111" "00021045" "30" "-4909" "0" "-4909" "0" "c.-4909C>G" "r.(?)" "p.(=)" "" "" "0000615099" "00021045" "30" "353" "-5" "353" "-5" "c.353-5C>T" "r.spl?" "p.?" "" "" "0000615100" "00021045" "50" "171" "0" "171" "0" "c.171del" "r.(?)" "p.(Glu58SerfsTer4)" "" "" "0000615101" "00021045" "50" "82" "0" "82" "0" "c.82A>C" "r.(?)" "p.(Thr28Pro)" "" "" "0000623167" "00021045" "50" "1734" "0" "1734" "0" "c.*495C>T" "r.(=)" "p.(=)" "" "" "0000623168" "00021045" "30" "1230" "0" "1230" "0" "c.1230A>G" "r.(?)" "p.(Lys410=)" "" "" "0000623169" "00021045" "30" "1185" "0" "1185" "0" "c.1185C>T" "r.(?)" "p.(Thr395=)" "" "" "0000657492" "00021045" "30" "558" "0" "558" "0" "c.558C>T" "r.(?)" "p.(Ile186=)" "" "" "0000657493" "00021045" "30" "519" "0" "519" "0" "c.519C>T" "r.(?)" "p.(Ile173=)" "" "" "0000657494" "00021045" "30" "353" "-129" "353" "-129" "c.353-129G>T" "r.(=)" "p.(=)" "" "" "0000680052" "00021045" "50" "1138" "0" "1138" "0" "c.1138C>T" "r.(?)" "p.(Pro380Ser)" "" "" "0000680053" "00021045" "30" "1080" "128" "1080" "128" "c.1080+128G>A" "r.(=)" "p.(=)" "" "" "0000680054" "00021045" "50" "873" "0" "873" "0" "c.873G>A" "r.(?)" "p.(Pro291=)" "" "" "0000691713" "00021045" "30" "647" "-12" "647" "-12" "c.647-12C>G" "r.(=)" "p.(=)" "" "" "0000691714" "00021045" "30" "-4914" "0" "-4914" "0" "c.-4914C>T" "r.(?)" "p.(=)" "" "" "0000724873" "00021045" "90" "878" "0" "878" "0" "c.878del" "r.(?)" "p.(Gln293Argfs*76)" "" "" "0000724874" "00021045" "50" "412" "0" "412" "0" "c.412T>G" "r.(?)" "p.(Ser138Ala)" "" "" "0000724875" "00021045" "50" "354" "0" "354" "0" "c.354C>A" "r.(?)" "p.(Asn118Lys)" "" "" "0000724876" "00021045" "30" "353" "-811" "353" "-811" "c.353-811T>C" "r.(=)" "p.(=)" "" "" "0000724877" "00021045" "30" "171" "0" "171" "0" "c.171T>G" "r.(?)" "p.(Pro57=)" "" "" "0000806503" "00021045" "50" "1138" "0" "1138" "0" "c.1138C>T" "r.(?)" "p.(Pro380Ser)" "" "" "0000806504" "00021045" "30" "778" "0" "778" "0" "c.778G>A" "r.(?)" "p.(Gly260Ser)" "" "" "0000806505" "00021045" "30" "578" "0" "578" "0" "c.578C>T" "r.(?)" "p.(Thr193Ile)" "" "" "0000831719" "00021045" "90" "899" "0" "899" "0" "c.899G>A" "r.(?)" "p.(Arg300Gln)" "" "" "0000831720" "00021045" "70" "1075" "0" "1075" "0" "c.1075A>C" "r.(?)" "p.(Ser359Arg)" "" "" "0000831799" "00021045" "50" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Pro66Ser)" "" "" "0000831800" "00021045" "50" "389" "0" "389" "0" "c.389A>G" "r.(?)" "p.(Lys130Arg)" "" "" "0000831801" "00021045" "50" "412" "0" "412" "0" "c.412T>G" "r.(?)" "p.(Ser138Ala)" "" "" "0000831802" "00021045" "50" "559" "0" "559" "0" "c.559G>A" "r.(?)" "p.(Gly187Ser)" "" "" "0000831803" "00021045" "50" "797" "0" "797" "0" "c.797G>A" "r.(?)" "p.(Arg266His)" "" "" "0000831804" "00021045" "50" "873" "0" "873" "0" "c.873G>A" "r.spl?" "p.(Pro291=)" "" "" "0000831805" "00021045" "50" "925" "0" "925" "0" "c.925C>T" "r.(?)" "p.(Arg309Cys)" "" "" "0000831810" "00021045" "50" "683" "0" "683" "0" "c.683C>T" "r.(?)" "p.(Pro228Leu)" "" "" "0000831938" "00021045" "90" "106" "0" "106" "0" "c.106A>T" "r.(?)" "p.(Lys36Ter)" "" "" "0000831939" "00021045" "90" "437" "0" "437" "0" "c.437del" "r.(?)" "p.(Leu146HisfsTer68)" "" "" "0000831940" "00021045" "90" "704" "0" "704" "0" "c.704del" "r.(?)" "p.(Asn235MetfsTer11)" "" "" "0000831941" "00021045" "90" "754" "2" "754" "2" "c.754+2T>C" "r.spl" "p.(Glu216_Lys251del)" "" "" "0000831942" "00021045" "70" "787" "0" "787" "0" "c.787G>C" "r.(?)" "p.(Asp263His)" "" "" "0000831943" "00021045" "50" "796" "0" "796" "0" "c.796C>T" "r.(?)" "p.(Arg266Cys)" "" "" "0000831944" "00021045" "90" "898" "0" "898" "0" "c.898C>T" "r.(?)" "p.(Arg300Trp)" "" "" "0000831945" "00021045" "90" "899" "0" "899" "0" "c.899G>A" "r.(?)" "p.(Arg300Gln)" "" "" "0000831946" "00021045" "70" "898" "0" "898" "0" "c.898C>G" "r.(?)" "p.(Arg300Gly)" "" "" "0000831947" "00021045" "70" "965" "0" "965" "0" "c.965T>C" "r.(?)" "p.(Ile322Thr)" "" "" "0000831948" "00021045" "70" "979" "0" "979" "0" "c.979G>T" "r.(?)" "p.(Asp327Tyr)" "" "" "0000831949" "00021045" "90" "1095" "0" "1095" "0" "c.1095C>A" "r.(?)" "p.(Tyr365Ter)" "" "" "0000831950" "00021045" "90" "1157" "0" "1157" "0" "c.1157del" "r.(?)" "p.(Leu386ArgfsTer21)" "" "" "0000831951" "00021045" "70" "1202" "0" "1202" "0" "c.1202T>C" "r.(?)" "p.(Leu401Pro)" "" "" "0000831952" "00021045" "90" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Cys409Tyr)" "" "" "0000863680" "00021045" "70" "926" "0" "926" "0" "c.926G>A" "r.(?)" "p.(Arg309His)" "" "" "0000863681" "00021045" "50" "559" "0" "559" "0" "c.559G>A" "r.(?)" "p.(Gly187Ser)" "" "" "0000863682" "00021045" "30" "-4903" "0" "-4903" "0" "c.-4903A>T" "r.(?)" "p.(=)" "" "" "0000863683" "00021045" "30" "-4966" "0" "-4966" "0" "c.-4966C>G" "r.(?)" "p.(=)" "" "" "0000880040" "00021045" "90" "106" "0" "106" "0" "c.106A>T" "r.(?)" "p.(Lys36*)" "" "" "0000881315" "00021045" "50" "785" "0" "785" "0" "c.785G>T" "r.(?)" "p.(Gly262Val)" "" "" "0000891897" "00021045" "10" "39" "0" "39" "0" "c.39C>T" "r.(?)" "p.(Ala13=)" "" "" "0000908376" "00021045" "70" "404" "0" "404" "0" "c.404A>T" "r.(?)" "p.(Asn135Ile)" "" "" "0000914220" "00021045" "50" "125" "0" "125" "0" "c.125C>G" "r.(?)" "p.(Ala42Gly)" "" "" "0000925917" "00021045" "50" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Leu320Phe)" "" "" "0000930335" "00021045" "30" "646" "198" "646" "198" "c.646+198G>A" "r.(=)" "p.(=)" "" "" "0000930336" "00021045" "30" "293" "0" "293" "0" "c.293C>T" "r.(?)" "p.(Ser98Leu)" "" "" "0000930337" "00021045" "90" "28" "0" "28" "0" "c.28del" "r.(?)" "p.(Val10Trpfs*6)" "" "" "0000950291" "00021045" "30" "1230" "0" "1230" "0" "c.1230A>G" "r.(?)" "p.(Lys410=)" "" "" "0000950292" "00021045" "90" "976" "0" "976" "0" "c.976C>T" "r.(?)" "p.(Gln326Ter)" "" "" "0000950293" "00021045" "30" "647" "-14" "647" "-14" "c.647-14G>A" "r.(=)" "p.(=)" "" "" "0000952548" "00021045" "70" "884" "0" "884" "0" "c.884del" "r.(?)" "p.(Gly295Valfs*74)" "5" "" "0000957737" "00021045" "30" "293" "0" "293" "0" "c.293C>T" "r.(?)" "p.(Ser98Leu)" "" "" "0000957803" "00021045" "30" "293" "0" "293" "0" "c.293C>T" "r.(?)" "p.(Ser98Leu)" "" "" "0000957874" "00021045" "70" "351" "0" "351" "0" "c.351C>T" "r.(?)" "p.(His117=)" "" "" "0000957877" "00021045" "70" "351" "0" "351" "0" "c.351C>T" "r.(?)" "p.(His117=)" "" "" "0000957885" "00021045" "30" "293" "0" "293" "0" "c.293C>T" "r.(?)" "p.(Ser98Leu)" "" "" "0000957940" "00021045" "50" "785" "0" "785" "0" "c.785G>T" "r.(?)" "p.(Gly262Val)" "" "" "0000967557" "00021045" "30" "6004" "0" "6004" "0" "c.*4765T>C" "r.(=)" "p.(=)" "" "" "0000967558" "00021045" "50" "1138" "0" "1138" "0" "c.1138C>T" "r.(?)" "p.(Pro380Ser)" "" "" "0000967559" "00021045" "30" "927" "-73" "927" "-73" "c.927-73A>C" "r.(=)" "p.(=)" "" "" "0000967560" "00021045" "30" "927" "-173" "927" "-173" "c.927-173C>A" "r.(=)" "p.(=)" "" "" "0000967561" "00021045" "90" "878" "0" "878" "0" "c.878del" "r.(?)" "p.(Gln293Argfs*76)" "" "" "0000967562" "00021045" "50" "813" "0" "813" "0" "c.813G>C" "r.(?)" "p.(Lys271Asn)" "" "" "0000967563" "00021045" "30" "813" "0" "813" "0" "c.813G>C" "r.(?)" "p.(Lys271Asn)" "" "" "0000967564" "00021045" "10" "647" "-68" "647" "-68" "c.647-68A>G" "r.(=)" "p.(=)" "" "" "0000967565" "00021045" "30" "517" "-108" "517" "-108" "c.517-108C>G" "r.(=)" "p.(=)" "" "" "0000981014" "00021045" "90" "297" "0" "297" "0" "c.297del" "r.(?)" "p.(Glu99Aspfs*12)" "" "" "0001001150" "00021045" "50" "1075" "0" "1075" "0" "c.1075A>C" "r.(?)" "p.(Ser359Arg)" "" "" "0001001151" "00021045" "30" "754" "37" "754" "37" "c.754+37G>T" "r.(=)" "p.(=)" "" "" "0001001152" "00021045" "50" "445" "0" "445" "0" "c.445G>A" "r.(?)" "p.(Ala149Thr)" "" "" "0001001153" "00021045" "30" "353" "-253" "353" "-253" "c.353-253G>C" "r.(=)" "p.(=)" "" "" "0001001154" "00021045" "30" "293" "0" "293" "0" "c.293C>T" "r.(?)" "p.(Ser98Leu)" "" "" "0001015174" "00021045" "50" "578" "0" "578" "0" "c.578C>T" "r.(?)" "p.(Thr193Ile)" "" "" "0001015175" "00021045" "30" "426" "0" "426" "0" "c.426T>C" "r.(?)" "p.(=)" "" "" "0001016637" "00021045" "70" "826" "0" "826" "0" "c.826C>T" "r.(?)" "p.(Pro276Ser)" "" "" "0001019154" "00021045" "30" "580" "0" "580" "0" "c.580C>T" "r.(?)" "p.(Arg194Trp)" "" "" "0001022073" "00021045" "90" "232" "0" "232" "0" "c.232delG" "r.0" "p.0?" "1" "" "0001026404" "00021045" "50" "1081" "-17" "1081" "-15" "c.1081-17_1081-15del" "r.(=)" "p.(=)" "" "" "0001030070" "00021045" "50" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Arg163Trp)" "" "" "0001046482" "00021045" "50" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 25 "{{screeningid}}" "{{variantid}}" "0000080976" "0000130062" "0000210999" "0000442396" "0000211000" "0000442397" "0000211001" "0000442398" "0000399358" "0000831719" "0000399359" "0000831720" "0000399425" "0000831810" "0000399438" "0000831799" "0000399439" "0000831800" "0000399440" "0000831801" "0000399441" "0000831802" "0000399442" "0000831803" "0000399443" "0000831804" "0000399444" "0000831805" "0000419868" "0000880040" "0000420956" "0000881315" "0000445532" "0000952548" "0000448330" "0000957737" "0000448383" "0000957874" "0000448384" "0000957885" "0000448396" "0000957803" "0000448458" "0000957877" "0000448466" "0000957940" "0000458975" "0001016637" "0000462546" "0001022073"