### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TBX5) # 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}}" "TBX5" "T-box 5" "12" "q24.1" "unknown" "NG_007373.1" "UD_132118426975" "" "https://www.LOVD.nl/TBX5" "" "1" "11604" "6910" "601620" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/TBX5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-10-11 15:29:16" "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}}" "00025324" "TBX5" "transcript variant 1" "002" "NM_000192.3" "" "NP_000183.2" "" "" "" "-667" "3159" "1557" "114846247" "114791735" "00006" "2018-10-11 15:31:23" "" "" ## 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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00352" "CMD" "cardiomyopathy, dilated (CMD)" "" "" "" "" "" "00006" "2014-03-13 16:16:15" "00006" "2015-03-06 17:18:25" "00977" "HOS" "Holt-Oram syndrome (HOS)" "AD" "142900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43" "04173" "LVNC" "ventricular noncompaction, left (LVNC)" "" "" "" "" "" "00006" "2015-01-20 15:35:56" "00006" "2015-10-12 17:03:37" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TBX5" "00139" "TBX5" "00977" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00181510" "" "" "" "1" "" "02585" "" "" "" "" "(Brazil)" "" "0" "" "" "" "t043" "00290607" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290608" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00320301" "" "" "" "1" "" "00006" "{PMID:Isbister 2020:32931854}" "" "" "" "Australia" "" "0" "" "" "" "BUG1" "00376436" "" "" "" "1" "" "00006" "{PMID:Nguyen 2021:34011823}" "" "" "" "Viet Nam" "" "0" "" "" "" "Pat222" "00385873" "" "" "" "1" "" "04178" "" "" "M" "" "Egypt" "" "0" "" "" "" "" "00385874" "" "" "" "1" "" "04178" "" "" "M" "" "Egypt" "" "0" "" "" "" "" "00402600" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "190585" "00408262" "" "" "" "16" "" "04178" "{PMID:Postma 2008:18451335}, {PMID:Van Ouwerkerk 2022:35113653}, {DOI:Van Ouwerkerk 2022:10.1161/CIRCULATIONAHA.121.054347}" "4-generation family, 16 affected (4F, 12M)" "F;M" "" "Netherlands" "" "0" "" "" "" "HOS-F1" "00446873" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case not solved" "" "" "" "" "0" "" "" "" "Pat185" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00181510" "00198" "00290607" "00198" "00290608" "00198" "00320301" "04172" "00376436" "00352" "00385873" "00977" "00385874" "00977" "00402600" "00977" "00408262" "00977" "00446873" "04173" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00352, 00977, 04172, 04173 ## Count = 8 "{{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}}" "0000143717" "00198" "00181510" "02585" "Unknown" "" "thalidomide embryopathy" "" "" "" "" "" "" "" "" "" "thalidomide embryopathy" "" "0000242329" "04172" "00320301" "00006" "Unknown" "" "survived sudden cardiac arrest" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000271644" "00352" "00376436" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000279676" "00977" "00385873" "04178" "Isolated (sporadic)" "00y20m" "absent thumb bilateral (HP:0009777), dimple on radial side of wrist bilateral, sloping shoulders, incomplete abduction, lower limbs normal" "" "00y20m" "" "" "" "" "" "" "" "" "" "0000279677" "00977" "00385874" "04178" "Isolated (sporadic)" "" "Atypical HOS" "" "" "" "" "" "" "" "" "" "" "" "0000295363" "00977" "00402600" "01164" "Isolated (sporadic)" "04y" "Delayed speech and language development, Behavioral abnormality, Neurodevelopmental delay, Expressive language delay, Ventricular septal defect, Atrial septal defect, Secundum atrial septal defect, Motor delay, Autistic behavior" "" "" "" "" "" "" "" "" "" "" "" "0000300390" "00977" "00408262" "04178" "Familial, autosomal dominant" "" "atypical HOS family with early onset atrial fibrillation and heterogeneous clinical traits; HP:0000924 - Abnormality of the skeletal system; HP:0001627 - Abnormal heart morphology; HP:0005110 - Atrial fibrillation; HP:0011702 - Abnormal electrophysiology of sinoatrial node origin; HP:0001678 - Atrioventricular block; HP:0001631 - Atrial septal defect; HP:0001629 - Ventricular septal defect" "" "" "" "" "" "" "" "" "" "" "" "0000336077" "04173" "00446873" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000182471" "00181510" "1" "02585" "02585" "2018-10-09 20:58:31" "" "" "SEQ-NG-IT" "DNA" "" "" "0000291775" "00290607" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291776" "00290608" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000321487" "00320301" "1" "00006" "00006" "2020-11-27 09:16:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000377641" "00376436" "1" "00006" "00006" "2021-06-22 13:15:11" "" "" "SEQ-NG" "DNA" "" "58-gene panel" "0000387101" "00385873" "1" "04178" "04178" "2021-10-17 19:33:30" "" "" "SEQ" "DNA" "White blood cells" "" "0000387102" "00385874" "1" "04178" "04178" "2021-10-17 19:51:38" "" "" "SEQ" "DNA" "White blood cells" "" "0000403842" "00402600" "1" "01164" "01164" "2022-02-08 13:59:39" "" "" "SEQ-NG-I" "DNA" "" "" "0000409517" "00408262" "1" "04178" "04178" "2022-04-18 12:55:35" "" "" "SEQ" "DNA" "White blood cells" "" "0000448448" "00446873" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000182471" "TBX5" "0000321487" "CACNB2" "0000321487" "SCN5A" "0000321487" "TBX5" "0000377641" "TBX5" "0000387101" "TBX5" "0000387102" "TBX5" "0000403842" "TBX5" "0000409517" "TBX5" ## 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 = 78 "{{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}}" "0000253855" "0" "10" "12" "114839744" "114839744" "subst" "0.00454035" "01943" "TBX5_000017" "g.114839744A>T" "" "" "" "TBX5(NM_000192.3):c.148-19T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114401939A>T" "" "benign" "" "0000311750" "0" "10" "12" "114793240" "114793240" "subst" "0.610141" "02325" "TBX5_000001" "g.114793240C>T" "" "" "" "TBX5(NM_000192.3):c.*97G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114355435C>T" "" "benign" "" "0000311751" "0" "10" "12" "114804166" "114804166" "subst" "0.000752308" "02325" "TBX5_000007" "g.114804166G>A" "" "" "" "TBX5(NM_000192.3):c.786C>T (p.T262=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114366361G>A" "" "benign" "" "0000314450" "0" "10" "12" "114793297" "114793297" "subst" "0" "02326" "TBX5_000019" "g.114793297T>C" "" "" "" "TBX5(NM_181486.4):c.*40A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114355492T>C" "" "benign" "" "0000314451" "0" "30" "12" "114804116" "114804116" "subst" "0.000199049" "02326" "TBX5_000005" "g.114804116C>T" "" "" "" "TBX5(NM_000192.3):c.836G>A (p.(Arg279Gln), p.R279Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114366311C>T" "" "likely benign" "" "0000316308" "0" "10" "12" "114793613" "114793613" "subst" "0.00423156" "01943" "TBX5_000002" "g.114793613G>A" "" "" "" "TBX5(NM_000192.3):c.1281C>T (p.S427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114355808G>A" "" "benign" "" "0000316309" "0" "10" "12" "114837371" "114837371" "subst" "0.0102488" "01943" "TBX5_000015" "g.114837371G>A" "" "" "" "TBX5(NM_000192.3):c.309C>T (p.L103=), TBX5(NM_181486.4):c.309C>T (p.(Leu103=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114399566G>A" "" "benign" "" "0000316310" "0" "30" "12" "114836531" "114836531" "subst" "5.16966E-5" "01943" "TBX5_000014" "g.114836531T>C" "" "" "" "TBX5(NM_000192.3):c.363-6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114398726T>C" "" "likely benign" "" "0000316311" "0" "90" "12" "114836480" "114836480" "subst" "0" "01943" "TBX5_000012" "g.114836480G>T" "" "" "" "TBX5(NM_000192.3):c.408C>A (p.Y136*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114398675G>T" "" "pathogenic" "" "0000316312" "0" "90" "12" "114836480" "114836480" "subst" "0" "01943" "TBX5_000013" "g.114836480G>C" "" "" "" "TBX5(NM_000192.3):c.408C>G (p.Y136*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114398675G>C" "" "pathogenic" "" "0000316314" "0" "90" "12" "114832690" "114832690" "del" "0" "01943" "TBX5_000010" "g.114832690del" "" "" "" "TBX5(NM_000192.3):c.521delA (p.N174Ifs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114394885del" "" "pathogenic" "" "0000316315" "0" "90" "12" "114832622" "114832622" "subst" "0" "01943" "TBX5_000009" "g.114832622G>T" "" "" "" "TBX5(NM_000192.3):c.587C>A (p.S196*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114394817G>T" "" "pathogenic" "" "0000316316" "0" "90" "12" "114823326" "114823326" "subst" "0" "01943" "TBX5_000008" "g.114823326C>T" "" "" "" "TBX5(NM_000192.3):c.710G>A (p.R237Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114385521C>T" "" "pathogenic" "" "0000316317" "0" "10" "12" "114804166" "114804166" "subst" "0.000752308" "01943" "TBX5_000007" "g.114804166G>A" "" "" "" "TBX5(NM_000192.3):c.786C>T (p.T262=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114366361G>A" "" "benign" "" "0000316318" "0" "90" "12" "114804117" "114804117" "subst" "0" "01943" "TBX5_000006" "g.114804117G>A" "" "" "" "TBX5(NM_000192.3):c.835C>T (p.R279*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114366312G>A" "" "pathogenic" "" "0000316319" "0" "90" "12" "114803996" "114803996" "del" "0" "01943" "TBX5_000004" "g.114803996del" "" "" "" "TBX5(NM_000192.3):c.958delA (p.I320Ffs*74)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114366191del" "" "pathogenic" "" "0000316320" "0" "90" "12" "114803969" "114803969" "subst" "0" "01943" "TBX5_000003" "g.114803969C>G" "" "" "" "TBX5(NM_000192.3):c.982+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114366164C>G" "" "pathogenic" "" "0000323104" "0" "50" "12" "114837402" "114837402" "subst" "0" "01804" "TBX5_000016" "g.114837402C>T" "" "" "" "TBX5(NM_000192.3):c.278G>A (p.(Gly93Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114399597C>T" "" "VUS" "" "0000323105" "0" "50" "12" "114841688" "114841688" "subst" "4.93815E-5" "01804" "TBX5_000018" "g.114841688C>T" "" "" "" "TBX5(NM_000192.3):c.16G>A (p.E6K, p.(Glu6Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114403883C>T" "" "VUS" "" "0000406354" "0" "30" "12" "114836468" "114836468" "subst" "0" "02585" "TBX5_000020" "g.114836468G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.114398663G>A" "" "likely benign" "" "0000546682" "0" "30" "12" "114792953" "114792953" "subst" "0" "02327" "TBX5_000021" "g.114792953A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114355148A>G" "" "likely benign" "" "0000546683" "0" "10" "12" "114793240" "114793240" "subst" "0.610141" "02327" "TBX5_000001" "g.114793240C>T" "" "" "" "TBX5(NM_000192.3):c.*97G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114355435C>T" "" "benign" "" "0000546684" "0" "10" "12" "114793260" "114793260" "subst" "0" "02327" "TBX5_000022" "g.114793260T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114355455T>C" "" "benign" "" "0000546685" "0" "10" "12" "114793297" "114793297" "subst" "0" "02327" "TBX5_000019" "g.114793297T>C" "" "" "" "TBX5(NM_181486.4):c.*40A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114355492T>C" "" "benign" "" "0000546686" "0" "50" "12" "114793621" "114793621" "subst" "3.66187E-5" "02327" "TBX5_000023" "g.114793621G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114355816G>T" "" "VUS" "" "0000546688" "0" "10" "12" "114803954" "114803954" "subst" "0.00552915" "01943" "TBX5_000025" "g.114803954G>A" "" "" "" "TBX5(NM_000192.3):c.982+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114366149G>A" "" "benign" "" "0000546689" "0" "30" "12" "114803954" "114803954" "subst" "0.00552915" "02327" "TBX5_000025" "g.114803954G>A" "" "" "" "TBX5(NM_000192.3):c.982+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114366149G>A" "" "likely benign" "" "0000546690" "0" "30" "12" "114804125" "114804125" "subst" "0.00048744" "02327" "TBX5_000026" "g.114804125C>T" "" "" "" "TBX5(NM_000192.3):c.827G>A (p.(Ser276Asn), p.S276N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114366320C>T" "" "likely benign" "" "0000546691" "0" "30" "12" "114804125" "114804125" "subst" "0.00048744" "02326" "TBX5_000026" "g.114804125C>T" "" "" "" "TBX5(NM_000192.3):c.827G>A (p.(Ser276Asn), p.S276N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114366320C>T" "" "likely benign" "" "0000546692" "0" "30" "12" "114804165" "114804165" "subst" "0.00116269" "01804" "TBX5_000027" "g.114804165C>T" "" "" "" "TBX5(NM_000192.3):c.787G>A (p.(Val263Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114366360C>T" "" "likely benign" "" "0000546693" "0" "10" "12" "114823187" "114823187" "subst" "0" "02327" "TBX5_000028" "g.114823187G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114385382G>T" "" "benign" "" "0000546694" "0" "30" "12" "114823246" "114823246" "subst" "0.000382266" "02327" "TBX5_000029" "g.114823246T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114385441T>C" "" "likely benign" "" "0000546695" "0" "90" "12" "114823368" "114823368" "subst" "0" "01943" "TBX5_000030" "g.114823368G>A" "" "" "" "TBX5(NM_000192.3):c.668C>T (p.T223M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114385563G>A" "" "pathogenic" "" "0000546696" "0" "10" "12" "114832360" "114832360" "subst" "0" "02327" "TBX5_000031" "g.114832360T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114394555T>C" "" "benign" "" "0000546697" "0" "10" "12" "114832510" "114832510" "subst" "0.620287" "02327" "TBX5_000032" "g.114832510C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114394705C>A" "" "benign" "" "0000546698" "0" "10" "12" "114832754" "114832754" "subst" "0" "02327" "TBX5_000033" "g.114832754A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114394949A>G" "" "benign" "" "0000546699" "0" "90" "12" "114836376" "114836376" "dup" "0" "01943" "TBX5_000034" "g.114836376dup" "" "" "" "TBX5(NM_000192.3):c.510+2dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114398571dup" "" "pathogenic" "" "0000546700" "0" "30" "12" "114836516" "114836516" "subst" "1.82946E-5" "02327" "TBX5_000035" "g.114836516C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114398711C>T" "" "likely benign" "" "0000546701" "0" "30" "12" "114837326" "114837326" "subst" "0.00059284" "02327" "TBX5_000036" "g.114837326A>G" "" "" "" "TBX5(NM_181486.4):c.354T>C (p.(Asp118=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114399521A>G" "" "likely benign" "" "0000546702" "0" "30" "12" "114841544" "114841544" "subst" "0.00024487" "02327" "TBX5_000037" "g.114841544G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114403739G>T" "" "likely benign" "" "0000613878" "0" "30" "12" "114793612" "114793612" "subst" "0.000138399" "02327" "TBX5_000038" "g.114793612C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114355807C>T" "" "likely benign" "" "0000613879" "0" "30" "12" "114804184" "114804184" "subst" "1.22262E-5" "02327" "TBX5_000039" "g.114804184G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114366379G>A" "" "likely benign" "" "0000613880" "0" "50" "12" "114841649" "114841649" "subst" "0.000228264" "02327" "TBX5_000040" "g.114841649C>A" "" "" "" "TBX5(NM_000192.3):c.55G>T (p.(Ala19Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114403844C>A" "" "VUS" "" "0000648464" "1" "30" "12" "114793660" "114793660" "subst" "0.000728406" "03575" "TBX5_000041" "g.114793660C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs114124210}" "Germline" "" "rs114124210" "0" "" "" "g.114355855C>T" "" "likely benign" "" "0000648465" "1" "30" "12" "114837349" "114837349" "subst" "0.00337435" "03575" "TBX5_000042" "g.114837349C>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs77357563}" "Germline" "" "rs77357563" "0" "" "" "g.114399544C>A" "" "likely benign" "" "0000704365" "0" "50" "12" "114804177" "114804177" "subst" "0" "00006" "TBX5_000043" "g.114804177G>A" "" "{PMID:Isbister 2020:32931854}" "" "" "" "Germline" "" "" "0" "" "" "g.114366372G>A" "" "VUS" "ACMG" "0000723850" "0" "50" "12" "114836375" "114836375" "subst" "8.22653E-6" "02326" "TBX5_000044" "g.114836375C>T" "" "" "" "TBX5(NM_000192.3):c.510+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723851" "0" "50" "12" "114841688" "114841688" "subst" "4.93815E-5" "01943" "TBX5_000018" "g.114841688C>T" "" "" "" "TBX5(NM_000192.3):c.16G>A (p.E6K, p.(Glu6Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000790046" "1" "70" "12" "114832557" "114832557" "subst" "0" "00006" "TBX5_000045" "g.114832557G>C" "" "{PMID:Nguyen 2021:34011823}" "" "" "ACMG PM1 PM2 PP2 PP3; no genotypes reported" "Germline" "" "" "0" "" "" "g.114394752G>C" "" "likely pathogenic" "" "0000805543" "0" "50" "12" "114832646" "114832646" "subst" "4.06075E-6" "02326" "TBX5_000046" "g.114832646G>A" "" "" "" "TBX5(NM_000192.3):c.563C>T (p.A188V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000814959" "20" "90" "12" "114839681" "114839681" "subst" "0" "04178" "TBX5_000048" "g.114839681C>T" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.114401876C>T" "" "pathogenic (dominant)" "" "0000814960" "0" "90" "12" "114836437" "114836437" "subst" "0" "04178" "TBX5_000047" "g.114836437G>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.114398632G>T" "" "pathogenic (dominant)" "" "0000839412" "0" "70" "12" "114836494" "114836494" "subst" "0" "01164" "TBX5_000049" "g.114836494G>T" "" "PMID: 27035640: other missense change at Pro123 (P126S) described as pathogenic for Holt-Oram Syndrome" "" "" "ACMG: PS2_MOD, PM5, PM2_SUP, PP3 (Trio-Exome)" "De novo" "yes" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000846696" "0" "90" "12" "114836515" "114836515" "subst" "0" "04178" "TBX5_000050" "g.114836515C>G" "" "{PMID:Postma 2008:18451335}, {PMID:Van Ouwerkerk 2022:35113653}, {DOI:Van Ouwerkerk 2022:10.1161/CIRCULATIONAHA.121.054347}" "" "G125R 373G>A" "error in variant description (373G>A)" "Germline" "yes" "" "0" "" "" "g.114398710C>G" "" "pathogenic (dominant)" "ACMG" "0000853280" "0" "30" "12" "114837349" "114837349" "subst" "0.00337435" "01804" "TBX5_000042" "g.114837349C>A" "" "" "" "TBX5(NM_000192.3):c.331G>T (p.(Asp111Tyr), p.D111Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853281" "0" "10" "12" "114837349" "114837349" "subst" "0.00337435" "02326" "TBX5_000042" "g.114837349C>A" "" "" "" "TBX5(NM_000192.3):c.331G>T (p.(Asp111Tyr), p.D111Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000862815" "0" "30" "12" "114793581" "114793581" "subst" "0.000493821" "01804" "TBX5_000051" "g.114793581C>T" "" "" "" "TBX5(NM_000192.3):c.1313G>A (p.(Arg438Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862816" "0" "30" "12" "114804125" "114804125" "subst" "0.00048744" "01804" "TBX5_000026" "g.114804125C>T" "" "" "" "TBX5(NM_000192.3):c.827G>A (p.(Ser276Asn), p.S276N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862817" "0" "30" "12" "114837364" "114837364" "subst" "0.000998895" "01804" "TBX5_000052" "g.114837364T>C" "" "" "" "TBX5(NM_000192.3):c.316A>G (p.(Ile106Val), p.I106V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890288" "0" "30" "12" "114804116" "114804116" "subst" "0.000199049" "01804" "TBX5_000005" "g.114804116C>T" "" "" "" "TBX5(NM_000192.3):c.836G>A (p.(Arg279Gln), p.R279Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890289" "0" "70" "12" "114832545" "114832545" "subst" "0" "02327" "TBX5_000053" "g.114832545C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000930020" "0" "30" "12" "114841649" "114841649" "subst" "0.000228264" "01804" "TBX5_000040" "g.114841649C>A" "" "" "" "TBX5(NM_000192.3):c.55G>T (p.(Ala19Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000957855" "0" "50" "12" "114793602" "114793602" "subst" "0" "00006" "TBX5_000054" "g.114793602G>A" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "TBX5 T381I" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.114355797G>A" "" "VUS" "" "0000966731" "0" "50" "12" "114793725" "114793725" "subst" "0" "02326" "TBX5_000055" "g.114793725A>C" "" "" "" "TBX5(NM_000192.3):c.1169T>G (p.V390G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966732" "0" "10" "12" "114837364" "114837364" "subst" "0.000998895" "02326" "TBX5_000052" "g.114837364T>C" "" "" "" "TBX5(NM_000192.3):c.316A>G (p.(Ile106Val), p.I106V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000980033" "0" "30" "12" "114803648" "114803649" "ins" "0" "01804" "TBX5_000056" "g.114803648_114803649insTC" "" "" "" "TBX5(NM_181486.4):c.982+321_982+322insGA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980034" "0" "70" "12" "114804078" "114804078" "subst" "0" "01804" "TBX5_000057" "g.114804078G>A" "" "" "" "TBX5(NM_181486.4):c.874C>T (p.(Gln292*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000980035" "0" "30" "12" "114837326" "114837326" "subst" "0.00059284" "01804" "TBX5_000036" "g.114837326A>G" "" "" "" "TBX5(NM_181486.4):c.354T>C (p.(Asp118=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980036" "0" "50" "12" "114837409" "114837409" "subst" "4.06055E-6" "01804" "TBX5_000058" "g.114837409C>T" "" "" "" "TBX5(NM_181486.4):c.271G>A (p.(Val91Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980037" "0" "30" "12" "114841553" "114841553" "subst" "0" "01804" "TBX5_000059" "g.114841553T>C" "" "" "" "TBX5(NM_181486.4):c.147+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999674" "0" "30" "12" "114793779" "114793779" "subst" "0.000211301" "01804" "TBX5_000060" "g.114793779G>A" "" "" "" "TBX5(NM_181486.2):c.1115C>T (p.(Ser372Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999675" "0" "50" "12" "114823320" "114823320" "subst" "0" "01804" "TBX5_000061" "g.114823320C>T" "" "" "" "TBX5(NM_181486.2):c.716G>A (p.(Ser239Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999676" "0" "90" "12" "114836437" "114836437" "subst" "0" "02329" "TBX5_000062" "g.114836437G>A" "" "" "" "TBX5(NM_000192.3):c.451C>T (p.Q151*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001014912" "0" "90" "12" "114804117" "114804117" "subst" "0" "02325" "TBX5_000006" "g.114804117G>A" "" "" "" "TBX5(NM_000192.3):c.835C>T (p.R279*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001038970" "0" "50" "12" "114793392" "114793392" "subst" "0" "01804" "TBX5_000063" "g.114793392T>C" "" "" "" "TBX5(NM_181486.4):c.1502A>G (p.(Gln501Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038971" "0" "50" "12" "114832653" "114832653" "subst" "4.06065E-6" "01804" "TBX5_000064" "g.114832653C>T" "" "" "" "TBX5(NM_181486.4):c.556G>A (p.(Val186Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038972" "0" "30" "12" "114837371" "114837371" "subst" "0.0102488" "01804" "TBX5_000015" "g.114837371G>A" "" "" "" "TBX5(NM_000192.3):c.309C>T (p.L103=), TBX5(NM_181486.4):c.309C>T (p.(Leu103=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046347" "0" "90" "12" "114832566" "114832566" "dup" "0" "02326" "TBX5_000065" "g.114832566dup" "" "" "" "TBX5(NM_000192.3):c.643dupA (p.T215Nfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 TBX5 ## Count = 78 "{{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}}" "0000253855" "00025324" "10" "148" "-19" "148" "-19" "c.148-19T>A" "r.(=)" "p.(=)" "" "0000311750" "00025324" "10" "1654" "0" "1654" "0" "c.*97G>A" "r.(=)" "p.(=)" "" "0000311751" "00025324" "10" "786" "0" "786" "0" "c.786C>T" "r.(?)" "p.(Thr262=)" "" "0000314450" "00025324" "10" "1597" "0" "1597" "0" "c.*40A>G" "r.(=)" "p.(=)" "" "0000314451" "00025324" "30" "836" "0" "836" "0" "c.836G>A" "r.(?)" "p.(Arg279Gln)" "" "0000316308" "00025324" "10" "1281" "0" "1281" "0" "c.1281C>T" "r.(?)" "p.(Ser427=)" "" "0000316309" "00025324" "10" "309" "0" "309" "0" "c.309C>T" "r.(?)" "p.(Leu103=)" "" "0000316310" "00025324" "30" "363" "-6" "363" "-6" "c.363-6A>G" "r.(=)" "p.(=)" "" "0000316311" "00025324" "90" "408" "0" "408" "0" "c.408C>A" "r.(?)" "p.(Tyr136Ter)" "" "0000316312" "00025324" "90" "408" "0" "408" "0" "c.408C>G" "r.(?)" "p.(Tyr136Ter)" "" "0000316314" "00025324" "90" "521" "0" "521" "0" "c.521del" "r.(?)" "p.(Asn174IlefsTer13)" "" "0000316315" "00025324" "90" "587" "0" "587" "0" "c.587C>A" "r.(?)" "p.(Ser196Ter)" "" "0000316316" "00025324" "90" "710" "0" "710" "0" "c.710G>A" "r.(?)" "p.(Arg237Gln)" "" "0000316317" "00025324" "10" "786" "0" "786" "0" "c.786C>T" "r.(?)" "p.(Thr262=)" "" "0000316318" "00025324" "90" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Arg279Ter)" "" "0000316319" "00025324" "90" "958" "0" "958" "0" "c.958del" "r.(?)" "p.(Ile320PhefsTer74)" "" "0000316320" "00025324" "90" "982" "1" "982" "1" "c.982+1G>C" "r.spl?" "p.?" "" "0000323104" "00025324" "50" "278" "0" "278" "0" "c.278G>A" "r.(?)" "p.(Gly93Asp)" "" "0000323105" "00025324" "50" "16" "0" "16" "0" "c.16G>A" "r.(?)" "p.(Glu6Lys)" "" "0000406354" "00025324" "30" "420" "0" "420" "0" "c.420C>T" "r.(=)" "p.(=)" "" "0000546682" "00025324" "30" "1941" "0" "1941" "0" "c.*384T>C" "r.(=)" "p.(=)" "" "0000546683" "00025324" "10" "1654" "0" "1654" "0" "c.*97G>A" "r.(=)" "p.(=)" "" "0000546684" "00025324" "10" "1634" "0" "1634" "0" "c.*77A>G" "r.(=)" "p.(=)" "" "0000546685" "00025324" "10" "1597" "0" "1597" "0" "c.*40A>G" "r.(=)" "p.(=)" "" "0000546686" "00025324" "50" "1273" "0" "1273" "0" "c.1273C>A" "r.(?)" "p.(His425Asn)" "" "0000546688" "00025324" "10" "982" "16" "982" "16" "c.982+16C>T" "r.(=)" "p.(=)" "" "0000546689" "00025324" "30" "982" "16" "982" "16" "c.982+16C>T" "r.(=)" "p.(=)" "" "0000546690" "00025324" "30" "827" "0" "827" "0" "c.827G>A" "r.(?)" "p.(Ser276Asn)" "" "0000546691" "00025324" "30" "827" "0" "827" "0" "c.827G>A" "r.(?)" "p.(Ser276Asn)" "" "0000546692" "00025324" "30" "787" "0" "787" "0" "c.787G>A" "r.(?)" "p.(Val263Met)" "" "0000546693" "00025324" "10" "755" "94" "755" "94" "c.755+94C>A" "r.(=)" "p.(=)" "" "0000546694" "00025324" "30" "755" "35" "755" "35" "c.755+35A>G" "r.(=)" "p.(=)" "" "0000546695" "00025324" "90" "668" "0" "668" "0" "c.668C>T" "r.(?)" "p.(Thr223Met)" "" "0000546696" "00025324" "10" "663" "186" "663" "186" "c.663+186A>G" "r.(=)" "p.(=)" "" "0000546697" "00025324" "10" "663" "36" "663" "36" "c.663+36G>T" "r.(=)" "p.(=)" "" "0000546698" "00025324" "10" "511" "-56" "511" "-56" "c.511-56T>C" "r.(=)" "p.(=)" "" "0000546699" "00025324" "90" "510" "2" "510" "2" "c.510+2dup" "r.spl?" "p.?" "" "0000546700" "00025324" "30" "372" "0" "372" "0" "c.372G>A" "r.(?)" "p.(Thr124=)" "" "0000546701" "00025324" "30" "354" "0" "354" "0" "c.354T>C" "r.(?)" "p.(Asp118=)" "" "0000546702" "00025324" "30" "147" "13" "147" "13" "c.147+13C>A" "r.(=)" "p.(=)" "" "0000613878" "00025324" "30" "1282" "0" "1282" "0" "c.1282G>A" "r.(?)" "p.(Ala428Thr)" "" "0000613879" "00025324" "30" "768" "0" "768" "0" "c.768C>T" "r.(?)" "p.(Pro256=)" "" "0000613880" "00025324" "50" "55" "0" "55" "0" "c.55G>T" "r.(?)" "p.(Ala19Ser)" "" "0000648464" "00025324" "30" "1234" "0" "1234" "0" "c.1234G>A" "r.(?)" "p.(Val412Ile)" "" "0000648465" "00025324" "30" "331" "0" "331" "0" "c.331G>T" "r.(?)" "p.(Asp111Tyr)" "" "0000704365" "00025324" "50" "775" "0" "775" "0" "c.775C>T" "r.(?)" "p.(Pro259Ser)" "" "0000723850" "00025324" "50" "510" "3" "510" "3" "c.510+3G>A" "r.spl?" "p.?" "" "0000723851" "00025324" "50" "16" "0" "16" "0" "c.16G>A" "r.(?)" "p.(Glu6Lys)" "" "0000790046" "00025324" "70" "652" "0" "652" "0" "c.652C>G" "r.(?)" "p.(Gln218Glu)" "" "0000805543" "00025324" "50" "563" "0" "563" "0" "c.563C>T" "r.(?)" "p.(Ala188Val)" "" "0000814959" "00025324" "90" "192" "0" "192" "0" "c.192G>A" "r.(?)" "p.(Trp64*)" "3" "0000814960" "00025324" "90" "451" "0" "451" "0" "c.451C>A" "r.(?)" "p.(Gln151Lys)" "" "0000839412" "00025324" "70" "394" "0" "394" "0" "c.394C>A" "r.(?)" "p.(Pro132Thr)" "" "0000846696" "00025324" "90" "373" "0" "373" "0" "c.373G>C" "r.(?)" "p.(Gly125Arg)" "5" "0000853280" "00025324" "30" "331" "0" "331" "0" "c.331G>T" "r.(?)" "p.(Asp111Tyr)" "" "0000853281" "00025324" "10" "331" "0" "331" "0" "c.331G>T" "r.(?)" "p.(Asp111Tyr)" "" "0000862815" "00025324" "30" "1313" "0" "1313" "0" "c.1313G>A" "r.(?)" "p.(Arg438Gln)" "" "0000862816" "00025324" "30" "827" "0" "827" "0" "c.827G>A" "r.(?)" "p.(Ser276Asn)" "" "0000862817" "00025324" "30" "316" "0" "316" "0" "c.316A>G" "r.(?)" "p.(Ile106Val)" "" "0000890288" "00025324" "30" "836" "0" "836" "0" "c.836G>A" "r.(?)" "p.(Arg279Gln)" "" "0000890289" "00025324" "70" "663" "1" "663" "1" "c.663+1G>A" "r.spl?" "p.?" "" "0000930020" "00025324" "30" "55" "0" "55" "0" "c.55G>T" "r.(?)" "p.(Ala19Ser)" "" "0000957855" "00025324" "50" "1292" "0" "1292" "0" "c.1292C>T" "r.(?)" "p.(Thr431Ile)" "" "0000966731" "00025324" "50" "1169" "0" "1169" "0" "c.1169T>G" "r.(?)" "p.(Val390Gly)" "" "0000966732" "00025324" "10" "316" "0" "316" "0" "c.316A>G" "r.(?)" "p.(Ile106Val)" "" "0000980033" "00025324" "30" "982" "321" "982" "322" "c.982+321_982+322insGA" "r.(=)" "p.(=)" "" "0000980034" "00025324" "70" "874" "0" "874" "0" "c.874C>T" "r.(?)" "p.(Gln292*)" "" "0000980035" "00025324" "30" "354" "0" "354" "0" "c.354T>C" "r.(?)" "p.(Asp118=)" "" "0000980036" "00025324" "50" "271" "0" "271" "0" "c.271G>A" "r.(?)" "p.(Val91Met)" "" "0000980037" "00025324" "30" "147" "4" "147" "4" "c.147+4A>G" "r.spl?" "p.?" "" "0000999674" "00025324" "30" "1115" "0" "1115" "0" "c.1115C>T" "r.(?)" "p.(Ser372Leu)" "" "0000999675" "00025324" "50" "716" "0" "716" "0" "c.716G>A" "r.(?)" "p.(Ser239Asn)" "" "0000999676" "00025324" "90" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(Gln151*)" "" "0001014912" "00025324" "90" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Arg279Ter)" "" "0001038970" "00025324" "50" "1502" "0" "1502" "0" "c.1502A>G" "r.(?)" "p.(Gln501Arg)" "" "0001038971" "00025324" "50" "556" "0" "556" "0" "c.556G>A" "r.(?)" "p.(Val186Met)" "" "0001038972" "00025324" "30" "309" "0" "309" "0" "c.309C>T" "r.(?)" "p.(Leu103=)" "" "0001046347" "00025324" "90" "643" "0" "643" "0" "c.643dup" "r.(?)" "p.(Thr215Asnfs*14)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000182471" "0000406354" "0000291775" "0000648464" "0000291776" "0000648465" "0000321487" "0000704365" "0000377641" "0000790046" "0000387101" "0000814959" "0000387102" "0000814960" "0000403842" "0000839412" "0000409517" "0000846696" "0000448448" "0000957855"