### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TNNT3) # 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}}" "TNNT3" "troponin T type 3 (skeletal, fast)" "11" "p15.5" "unknown" "NG_013085.2" "UD_132119035844" "" "https://www.LOVD.nl/TNNT3" "" "1" "11950" "7140" "600692" "1" "1" "1" "1" "This database is one of the gene variant databases from the:

" "" "g" "https://databases.lovd.nl/shared/refseq/TNNT3_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2009-10-01 00:00:00" "00006" "2019-12-30 19:38:27" "00006" "2026-04-13 18:23:33" ## 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}}" "00021599" "TNNT3" "transcript variant 1" "002" "NM_006757.3" "" "NP_006748.1" "" "" "" "-212" "991" "777" "1940799" "1959936" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00026" "arthrogryposis" "arthrogryposis" "" "" "" "" "" "00001" "2012-08-03 16:49:36" "00006" "2019-01-04 15:23:51" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "00385" "DA" "arthrogryposis, distal (DA)" "" "" "" "" "" "00006" "2014-05-27 12:44:13" "00006" "2015-12-08 23:59:30" "01666" "FADS" "akinesia, fetal, deformation sequence (FADS)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-10-27 12:54:08" "02383" "DA2B1" "arthrogryposis, distal, type 2B1a" "AD" "601680" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02840" "CMYO4B" "myopathy, congenital, type 4B" "AR" "609284" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-02-07 14:48:13" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "06143" "DA2B2" "Arthrogryposis, distal, type 2B2" "AD" "618435" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "TNNT3" "00026" "TNNT3" "02383" "TNNT3" "06143" ## Individuals ## Do not remove or alter this header ## ## Count = 27 "{{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}}" "00132791" "" "" "" "1" "" "02306" "{PMID:Sandaradura 2018:29266598}, {PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "M" "no" "Australia" "" "0" "" "" "Aboriginal/white;white" "patient" "00154875" "" "" "" "1" "" "00006" "{PMID:Gurnett 2009:19142688}" "variant not present in unaffected relatives" "F" "" "United States" "" "0" "" "" "" "" "00154876" "" "" "" "1" "" "00006" "{PMID:Sung 2003:12865991}, {OMIM600692:0001}" "daugther of 12865991-I.1" "F" "" "United States" "" "0" "" "" "" "" "00154877" "" "" "" "1" "" "00006" "{PMID:Sung 2003:12865991}, {OMIM600692:0001}" "daugther of 12865991-I.1" "F" "" "United States" "" "0" "" "" "" "" "00154878" "" "" "" "1" "" "00006" "{PMID:Sung 2003:12865991}, {OMIM600692:0001}" "mother of 12865991-II.1/.2" "F" "" "United States" "" "0" "" "" "" "" "00154879" "" "" "" "1" "" "00464" "" "" "F" "" "Canada" "" "0" "" "" "French Canadian" "" "00154880" "" "" "" "5" "" "00006" "{PMID:Zhao 2011:21402185}" "3-generation family, 5 affecteds" "" "" "China" "" "0" "" "" "" "" "00154910" "" "" "" "1" "" "00006" "{PMID:Beck 2013:23401156}" "" "" "" "United States" "" "0" "" "" "" "23401156-e1" "00154911" "" "" "" "1" "" "00006" "{PMID:Beck 2013:23401156}" "" "" "" "United States" "" "0" "" "" "" "23401156-f2" "00154912" "" "" "" "1" "" "00006" "{PMID:Beck 2013:23401156}" "" "" "" "United States" "" "0" "" "" "" "23401156-f1" "00154913" "" "" "" "1" "" "00006" "{PMID:Beck 2013:23401156}" "" "" "" "United States" "" "0" "" "" "" "23401156-g2" "00154914" "" "" "" "1" "" "00006" "{PMID:Beck 2013:23401156}" "" "" "" "United States" "" "0" "" "" "" "23401156-h2" "00154915" "" "" "" "1" "" "00006" "{PMID:Beck 2013:23401156}" "" "" "" "United States" "" "0" "" "" "" "23401156-h3" "00154916" "" "" "" "1" "" "00006" "{PMID:Beck 2013:23401156}" "" "" "" "United States" "" "0" "" "" "" "23401156-h4" "00154917" "" "" "" "1" "" "00006" "{PMID:Beck 2013:23401156}" "" "" "" "United States" "" "0" "" "" "" "23401156-g1" "00154918" "" "" "" "1" "" "00006" "{PMID:Beck 2013:23401156}" "" "" "" "United States" "" "0" "" "" "" "23401156-h1" "00207797" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00290337" "" "" "" "247" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304298" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00314483" "" "" "" "2" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00419928" "" "" "" "1" "" "04393" "{PMID:Pelin 2023:37393515}" "" "M" "no" "Finland" "<05y" "0" "" "" "" "" "00449564" "" "" "" "1" "" "03565" "{PMID:Altin 2025:41473596}" "2-generation family, aborted fetus, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "Pat1" "00449565" "" "" "" "1" "" "03565" "{PMID:Altin 2025:41473596}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Pat2" "00472680" "" "" "" "2" "" "00006" "{PMID:Muller 2025:40554860}, {DOI:Yepez 2026:10.64898/2026.02.10.26345954}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamPat1;Pat16" "00472681" "" "" "00472680" "1" "" "00006" "{PMID:Muller 2025:40554860}" "sister" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamPat2" "00472699" "" "" "" "1" "" "00006" "{PMID:Calame 2021:33977145}" "3-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "United States" "" "0" "" "" "Latino" "patient" "00476107" "" "" "" "1" "" "00006" "{PMID:Beecroft 2020:32153140}" "analysis 2249 neurology patients" "M" "" "(Australia);(New Zealand)" "" "0" "" "" "" "BF311" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 26 "{{individualid}}" "{{diseaseid}}" "00132791" "00026" "00154875" "00385" "00154876" "00385" "00154877" "00385" "00154878" "00385" "00154879" "00385" "00154880" "00385" "00154910" "00385" "00154911" "00385" "00154912" "00385" "00154913" "00385" "00154914" "00385" "00154915" "00385" "00154916" "00385" "00154917" "00385" "00154918" "00385" "00290337" "00198" "00304298" "00198" "00314483" "05126" "00419928" "02840" "00449564" "00198" "00449565" "00198" "00472680" "00244" "00472681" "00244" "00472699" "00244" "00476107" "01666" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00026, 00198, 00244, 00385, 01666, 02383, 02840, 05126, 06143 ## 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}}" "0000105575" "00026" "00132791" "02306" "Familial, autosomal recessive" "" "see paper; ..., distal arthrogryposis; abnormal facial shape; scoliosis; respiratory insufficiency; contractures joints upper limbs; contractures joints lower limbs" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000127611" "00385" "00154875" "00006" "Isolated (sporadic)" "" "childhood onset, bilateral severe equinovarus contractures, no facial contractures/scoliosis" "" "" "isolated hand/foot contractures" "" "" "" "" "" "arthrogryposis, distal, type 1 (DA-1)" "arthrogryposis, distal" "" "0000127612" "00385" "00154876" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "arthrogryposis, distal, type 2B (DA-2B)" "arthrogryposis, distal" "" "0000127613" "00385" "00154877" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "arthrogryposis, distal, type 2B (DA-2B)" "arthrogryposis, distal" "" "0000127614" "00385" "00154878" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "arthrogryposis, distal, type 2B (DA-2B)" "arthrogryposis, distal" "" "0000127615" "00385" "00154879" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "DA-2B" "arthrogryposis, distal (Sheldon-Hall syndrome)" "" "0000127616" "00385" "00154880" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DA-2B" "arthrogryposis, distal (Sheldon-Hall syndrome)" "" "0000127646" "00385" "00154910" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DA-2B" "" "" "0000127647" "00385" "00154911" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DA-1" "" "" "0000127648" "00385" "00154912" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DA-1" "" "" "0000127649" "00385" "00154913" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DA-1" "" "" "0000127650" "00385" "00154914" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DA-2B" "" "" "0000127651" "00385" "00154915" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DA-2B" "" "" "0000127652" "00385" "00154916" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DA-2B" "" "" "0000127653" "00385" "00154917" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DA-1" "" "" "0000127654" "00385" "00154918" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DA-2B" "" "" "0000155580" "00198" "00207797" "01164" "Unknown" "" "HP:0003473 (Fatigable weakness)" "" "" "" "" "" "" "" "" "" "" "" "0000311197" "02840" "00419928" "04393" "Familial, autosomal recessive" "00y" "Failure to thrive (HP:0001508); high, narrow palate (HP:0002705); poor head control (HP:0002421); generalized hypotonia (HP0001290); respiratory insufficiency due to muscle weakness (HP:0002747); type 1 muscle fiber atrophy (HP:0011807); type 1 fibers relatively smaller than type 2 fibers (HP:0003755); nemaline bodies (HP:0003798); central nuclei (HP:0003687)." "" "" "" "" "" "" "" "" "NEM1" "NEM" "" "0000338739" "00198" "00449564" "03565" "Familial, autosomal recessive" "" "see paper; ..., aborted fetus; 20wg+4 multiple musculoskeletal malformations; bilateral clubfoot, plantar contracture; contractures both hands, either in flexion or extension" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000338740" "00198" "00449565" "03565" "Familial, autosomal recessive" "02y" "see paper; ..., distal arthrogryposis; hypotonia; no myopathic facies; triangular facies; facial weakness; limb weakness; bulbar involvement; respiratory involvement; absent reflexes; no scoliosis" "" "" "" "" "" "" "" "" "" "myopathy" "" "0000357477" "00244" "00472680" "00006" "Familial, autosomal recessive" "13y06m" "see paper; ..., bell-shaped chest, reduced foetal movements; birth at term, weak, hypotonic, weak cry, finger contractures, feeding support in neonatal intensive care unit; 3m-tube feeding, home suction machine; dislocated hips (9m-surgery); 1y-gastrostomy inserted; 4m-head control, 12m-sit, 22m-walk; normal speech, no intellectual disability, no hearing loss, normal vision" "" "" "" "" "" "" "" "" "" "myopathy" "" "0000357478" "00244" "00472681" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., pregnancy polyhydramnio; birth weak, hypotonic, weak cry, poor suck, single palmar crease, finger contractures, slightly receding chin; 1d-apnoeic episodes, required oxygen administration, no ventilatory support; tube feeding first months, 14m-gastrostomy; 10m-sit, 26m-walk; recurrent chest infections" "" "" "" "" "" "" "" "" "" "congenital myopathy" "" "0000357496" "00244" "00472699" "00006" "Familial, autosomal recessive" "04y" "see paper; ..., decreased fetal movement, polyhydramnios; birth respiratory failure requiring noninvasive ventilatory support; persistent respiratory failure, tracheostomy; gastrostomy\r\nplacement for dysphagia; excessive drooling; developmentaldelay, 1y-sit, 3y-stand supported; 3y-limb/truncal/neck flexion weakness, myopathic facies, axia hypotonia, appendicular hypotonia, absent reflexes, ligamentous laxity, scoliosis, pectus carinatum, high-arched palate, bitemporal narrowing; scoliosis" "" "" "" "" "" "" "" "" "" "congenital myopathy" "" "0000360781" "01666" "00476107" "00006" "Familial, autosomal recessive" "0y" "details not specified; ncorrelation clinical diagnosis with genetic diagnosis" "" "" "" "" "" "" "" "" "" "fetal akinesia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 27 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000133625" "00132791" "1" "02306" "02306" "2017-11-08 01:42:05" "" "" "SEQ-NG" "DNA" "" "Custom neuromuscular gene panel" "0000155733" "00154875" "1" "00006" "00006" "2012-03-18 16:40:56" "" "" "SEQ" "DNA" "" "" "0000155734" "00154876" "1" "00006" "00006" "2009-10-18 11:59:52" "00006" "2012-03-04 15:57:58" "SEQ" "DNA" "" "" "0000155735" "00154877" "1" "00006" "00006" "2009-10-18 11:59:52" "00006" "2012-03-04 15:57:58" "SEQ" "DNA" "" "" "0000155736" "00154878" "1" "00006" "00006" "2009-10-18 11:59:52" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" "" "0000155737" "00154879" "1" "00464" "00464" "2011-09-02 19:13:08" "00006" "2012-03-04 15:57:58" "PCR;SEQ" "DNA" "" "" "0000155738" "00154880" "1" "00006" "00006" "2012-03-18 16:40:56" "" "" "SEQ" "DNA" "" "" "0000155768" "00154910" "1" "00006" "00006" "2018-03-03 11:50:47" "" "" "SEQ" "DNA" "" "" "0000155769" "00154911" "1" "00006" "00006" "2018-03-03 11:50:47" "" "" "SEQ" "DNA" "" "" "0000155770" "00154912" "1" "00006" "00006" "2018-03-03 11:50:47" "" "" "SEQ" "DNA" "" "" "0000155771" "00154913" "1" "00006" "00006" "2018-03-03 11:50:47" "" "" "SEQ" "DNA" "" "" "0000155772" "00154914" "1" "00006" "00006" "2018-03-03 11:50:47" "" "" "SEQ" "DNA" "" "" "0000155773" "00154915" "1" "00006" "00006" "2018-03-03 11:50:47" "" "" "SEQ" "DNA" "" "" "0000155774" "00154916" "1" "00006" "00006" "2018-03-03 11:50:47" "" "" "SEQ" "DNA" "" "" "0000155775" "00154917" "1" "00006" "00006" "2018-03-03 11:50:47" "" "" "SEQ" "DNA" "" "" "0000155776" "00154918" "1" "00006" "00006" "2018-03-03 11:50:47" "" "" "SEQ" "DNA" "" "" "0000208838" "00207797" "1" "01164" "01164" "2018-11-30 14:43:57" "" "" "SEQ-NG" "DNA" "" "" "0000291505" "00290337" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305427" "00304298" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000315656" "00314483" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421233" "00419928" "1" "04393" "04393" "2022-10-26 10:47:04" "" "" "arrayCGH;RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000451155" "00449564" "1" "03565" "03565" "2024-04-24 16:55:43" "" "" "SEQ-NG" "DNA" "" "" "0000451156" "00449565" "1" "03565" "03565" "2024-04-24 17:01:44" "" "" "SEQ-NG" "DNA" "" "" "0000474349" "00472680" "1" "00006" "00006" "2026-02-25 14:23:11" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000474350" "00472681" "1" "00006" "00006" "2026-02-25 14:44:18" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WGS" "0000474368" "00472699" "1" "00006" "00006" "2026-02-25 19:47:03" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000477751" "00476107" "1" "00006" "00006" "2026-04-13 18:16:22" "" "" "SEQ;SEQ-NG" "DNA" "" "336-gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{geneid}}" "0000155733" "TNNT3" "0000155734" "TNNT3" "0000155735" "TNNT3" "0000155736" "TNNT3" "0000155737" "TNNT3" "0000155738" "TNNT3" "0000155768" "TNNT3" "0000155769" "TNNT3" "0000155770" "TNNT3" "0000155771" "TNNT3" "0000155772" "TNNT3" "0000155773" "TNNT3" "0000155774" "TNNT3" "0000155775" "TNNT3" "0000155776" "TNNT3" "0000315656" "TNNT3" "0000421233" "CSDA" "0000421233" "OBSL1" "0000421233" "RYR1" "0000421233" "SRPK3" "0000421233" "TPM3" "0000474349" "TNNT3" "0000474350" "TNNT3" ## 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 = 58 "{{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}}" "0000222864" "3" "90" "11" "1956150" "1956150" "subst" "8.12902E-6" "02306" "TNNT3_000011" "g.1956150G>A" "" "{PMID:Sandaradura 2018:29266598}, {PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "effect on splicing reported generating transcripts with exon 14 skipping (ex13-15 and ex13-15b) and intron 14 retention" "Germline" "" "" "0" "" "" "g.1934920G>A" "" "pathogenic (recessive)" "" "0000247030" "0" "10" "11" "1955546" "1955546" "subst" "0.0207417" "02330" "TNNT3_000013" "g.1955546A>G" "" "" "" "TNNT3(NM_001297646.2):c.343-16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1934316A>G" "" "benign" "" "0000309360" "0" "90" "11" "1954967" "1954967" "subst" "0" "02330" "TNNT3_000001" "g.1954967G>A" "" "" "" "TNNT3(NM_001297646.1):c.164G>A (p.R55H), TNNT3(NM_001297646.2):c.164G>A (p.R55H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1933737G>A" "" "pathogenic" "" "0000309361" "0" "10" "11" "1956104" "1956104" "subst" "0.0208795" "02330" "TNNT3_000007" "g.1956104T>C" "" "" "" "TNNT3(NM_001297646.2):c.612T>C (p.I204=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1934874T>C" "" "benign" "" "0000309362" "0" "10" "11" "1959707" "1959707" "subst" "0.147028" "02330" "TNNT3_000008" "g.1959707C>T" "" "" "" "TNNT3(NM_006757.4):c.762C>T (p.G254=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1938477C>T" "" "benign" "" "0000311965" "0" "10" "11" "1959707" "1959707" "subst" "0.147028" "02325" "TNNT3_000008" "g.1959707C>T" "" "" "" "TNNT3(NM_006757.4):c.762C>T (p.G254=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1938477C>T" "" "benign" "" "0000314773" "0" "10" "11" "1955553" "1955553" "subst" "0.00967425" "02326" "TNNT3_000014" "g.1955553T>C" "" "" "" "TNNT3(NM_001297646.2):c.343-9T>C, TNNT3(NM_006757.4):c.367-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1934323T>C" "" "benign" "" "0000314774" "0" "30" "11" "1959653" "1959653" "subst" "0.00412754" "02326" "TNNT3_000015" "g.1959653G>C" "" "" "" "TNNT3(NM_001297646.2):c.699-15G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1938423G>C" "" "likely benign" "" "0000339036" "0" "90" "11" "1954966" "1954966" "subst" "0" "02327" "TNNT3_000010" "g.1954966C>T" "" "" "" "TNNT3(NM_006757.4):c.187C>T (p.(Arg63Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1933736C>T" "" "pathogenic" "" "0000355087" "1" "50" "11" "1955609" "1955609" "subst" "0.00700906" "00006" "TNNT3_000006" "g.1955609G>A" "" "" "" "" "" "Germline" "" "rs2292470" "0" "" "" "g.1934379G>A" "" "VUS" "" "0000355088" "1" "50" "11" "1956104" "1956104" "subst" "0.0208795" "00006" "TNNT3_000007" "g.1956104T>C" "" "" "" "" "" "Germline" "" "rs16927166" "0" "" "" "g.1934874T>C" "" "VUS" "" "0000355089" "1" "50" "11" "1959707" "1959707" "subst" "0.147028" "00006" "TNNT3_000008" "g.1959707C>T" "" "" "" "" "" "Germline" "" "rs4727" "0" "" "" "g.1938477C>T" "" "VUS" "" "0000355090" "1" "50" "11" "1943605" "1943605" "subst" "0" "00006" "TNNT3_000002" "g.1943605G>A" "" "" "" "" "" "Germline" "" "rs1398256" "0" "" "" "g.1922375G>A" "" "VUS" "" "0000355091" "1" "50" "11" "1943708" "1943708" "subst" "0" "00006" "TNNT3_000003" "g.1943708C>A" "" "" "" "" "" "Germline" "" "rs2334385" "0" "" "" "g.1922478C>A" "" "VUS" "" "0000355092" "1" "50" "11" "1944202" "1944202" "subst" "0" "00006" "TNNT3_000004" "g.1944202A>G" "" "" "" "" "" "Germline" "" "rs965912" "0" "" "" "g.1922972A>G" "" "VUS" "" "0000355093" "1" "50" "11" "1944636" "1944636" "subst" "0" "00006" "TNNT3_000005" "g.1944636A>T" "" "" "" "" "" "Germline" "" "rs2734500" "0" "" "" "g.1923406A>T" "" "VUS" "" "0000355510" "1" "90" "11" "1954967" "1954967" "subst" "0" "00006" "TNNT3_000001" "g.1954967G>A" "" "{PMID:Gurnett 2009:19142688}, {OMIM600692:0001}" "" "" "" "De novo" "" "" "0" "" "" "g.1933737G>A" "" "pathogenic" "" "0000355511" "21" "90" "11" "1954967" "1954967" "subst" "0" "00006" "TNNT3_000001" "g.1954967G>A" "" "{PMID:Sung 2003:12865991}, {OMIM600692:0001}" "" "" "not in 488 control chromosomes" "Germline" "" "" "0" "" "" "g.1933737G>A" "" "pathogenic" "" "0000355512" "21" "90" "11" "1954967" "1954967" "subst" "0" "00006" "TNNT3_000001" "g.1954967G>A" "" "{PMID:Sung 2003:12865991}, {OMIM600692:0001}" "" "" "not in 488 control chromosomes" "Germline" "" "" "0" "" "" "g.1933737G>A" "" "pathogenic" "" "0000355513" "1" "90" "11" "1954967" "1954967" "subst" "0" "00006" "TNNT3_000001" "g.1954967G>A" "" "{PMID:Sung 2003:12865991}, {OMIM600692:0001}" "" "" "not in 488 control chromosomes; unaffecteds parents, suspected de novo; conserved in all TNNT\'s; pathogenic change in TNNT2" "Germline" "" "" "0" "" "" "g.1933737G>A" "" "pathogenic" "" "0000355514" "1" "50" "11" "1955200" "1955200" "subst" "7.75238E-5" "00464" "TNNT3_000009" "g.1955200C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1933970C>T" "" "VUS" "" "0000355515" "1" "90" "11" "1954966" "1954966" "subst" "0" "00006" "TNNT3_000010" "g.1954966C>T" "" "{PMID:Zhao 2011:21402185}" "" "" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.1933736C>T" "" "pathogenic" "" "0000355547" "1" "90" "11" "1954966" "1954966" "subst" "0" "00006" "TNNT3_000012" "g.1954966C>A" "" "{PMID:Beck 2013:23401156}" "" "" "" "Germline" "" "" "0" "" "" "g.1933736C>A" "" "pathogenic" "" "0000355548" "1" "90" "11" "1954966" "1954966" "subst" "0" "00006" "TNNT3_000010" "g.1954966C>T" "" "{PMID:Beck 2013:23401156}" "" "" "" "Germline" "" "" "0" "" "" "g.1933736C>T" "" "pathogenic" "" "0000355549" "1" "90" "11" "1954966" "1954966" "subst" "0" "00006" "TNNT3_000010" "g.1954966C>T" "" "{PMID:Beck 2013:23401156}" "" "" "" "Germline" "" "" "0" "" "" "g.1933736C>T" "" "pathogenic" "" "0000355550" "1" "90" "11" "1954967" "1954967" "subst" "0" "00006" "TNNT3_000001" "g.1954967G>A" "" "{PMID:Beck 2013:23401156}" "" "" "" "Germline" "" "" "0" "" "" "g.1933737G>A" "" "pathogenic" "" "0000355551" "1" "90" "11" "1954967" "1954967" "subst" "0" "00006" "TNNT3_000001" "g.1954967G>A" "" "{PMID:Beck 2013:23401156}" "" "" "" "Germline" "" "" "0" "" "" "g.1933737G>A" "" "pathogenic" "" "0000355552" "1" "90" "11" "1954967" "1954967" "subst" "0" "00006" "TNNT3_000001" "g.1954967G>A" "" "{PMID:Beck 2013:23401156}" "" "" "" "Germline" "" "" "0" "" "" "g.1933737G>A" "" "pathogenic" "" "0000355553" "1" "90" "11" "1954967" "1954967" "subst" "0" "00006" "TNNT3_000001" "g.1954967G>A" "" "{PMID:Beck 2013:23401156}" "" "" "" "Germline" "" "" "0" "" "" "g.1933737G>A" "" "pathogenic" "" "0000355554" "1" "90" "11" "1954967" "1954967" "subst" "0" "00006" "TNNT3_000001" "g.1954967G>A" "" "{PMID:Beck 2013:23401156}" "" "" "" "Germline" "" "" "0" "" "" "g.1933737G>A" "" "pathogenic" "" "0000355555" "1" "90" "11" "1954967" "1954967" "subst" "0" "00006" "TNNT3_000001" "g.1954967G>A" "" "{PMID:Beck 2013:23401156}" "" "" "" "Germline" "" "" "0" "" "" "g.1933737G>A" "" "pathogenic" "" "0000438833" "0" "50" "11" "1946320" "1946320" "subst" "0" "01164" "TNNT3_000016" "g.1946320G>A" "" "" "" "" "ACMG grading: PM2,PP3; MaxEntScan and SSF imply weakening of physiological SA site; not functional data available" "Germline" "" "rs776049768" "0" "" "" "g.1925090G>A" "" "VUS" "ACMG" "0000543415" "0" "90" "11" "1954967" "1954967" "subst" "0" "01943" "TNNT3_000001" "g.1954967G>A" "" "" "" "TNNT3(NM_001297646.1):c.164G>A (p.R55H), TNNT3(NM_001297646.2):c.164G>A (p.R55H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1933737G>A" "" "pathogenic" "" "0000648194" "1" "30" "11" "1956104" "1956104" "subst" "0.0208795" "03575" "TNNT3_000007" "g.1956104T>C" "247/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "247 heterozygous; {DB:CLININrs16927166}" "Germline" "" "rs16927166" "0" "" "" "g.1934874T>C" "" "likely benign" "" "0000669115" "3" "30" "11" "1956104" "1956104" "subst" "0.0208795" "03575" "TNNT3_000007" "g.1956104T>C" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 homozygous; {DB:CLININrs16927166}" "Germline" "" "rs16927166" "0" "" "" "g.1934874T>C" "" "likely benign" "" "0000691026" "0" "50" "11" "1954985" "1954985" "subst" "0" "01943" "TNNT3_000017" "g.1954985T>C" "" "" "" "TNNT3(NM_001367851.1):c.2T>C (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000697745" "0" "70" "11" "1947940" "1947940" "subst" "0" "00006" "TNNT3_000018" "g.1947940G>A" "2/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.1926710G>A" "" "likely pathogenic" "" "0000723357" "0" "70" "11" "1954966" "1954966" "subst" "0" "02325" "TNNT3_000012" "g.1954966C>A" "" "" "" "TNNT3(NM_006757.4):c.187C>A (p.R63S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000723358" "0" "10" "11" "1955553" "1955553" "subst" "0.00967425" "02330" "TNNT3_000014" "g.1955553T>C" "" "" "" "TNNT3(NM_001297646.2):c.343-9T>C, TNNT3(NM_006757.4):c.367-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000881913" "0" "50" "11" "1915272" "1961054" "inv" "0" "04393" "TNNT3_000019" "g.(1915271_1915272)_(1961054_1961073)inv" "" "{PMID:Pelin 2023:37393515}" "" "" "45.8kb inversion in 11p15.5, includes TNNT3 and LINC01150; detected by linked-read sequencing" "Germline/De novo (untested)" "?" "" "0" "" "" "g.(1894041_1894042)_(1939824-1939843)inv" "" "VUS" "" "0000889752" "0" "10" "11" "1951034" "1951034" "subst" "0.00191874" "02330" "TNNT3_000020" "g.1951034G>A" "" "" "" "TNNT3(NM_001297646.2):c.83-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000889753" "0" "10" "11" "1956065" "1956065" "subst" "1.21859E-5" "02330" "TNNT3_000021" "g.1956065G>A" "" "" "" "TNNT3(NM_001297646.2):c.573G>A (p.K191=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000925358" "0" "30" "11" "1951084" "1951142" "del" "0" "02330" "TNNT3_000022" "g.1951084_1951142del" "" "" "" "TNNT3(NM_001297646.2):c.99_101+56del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979507" "0" "90" "11" "1954966" "1954966" "subst" "0" "01804" "TNNT3_000010" "g.1954966C>T" "" "" "" "TNNT3(NM_006757.4):c.187C>T (p.(Arg63Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000979508" "0" "50" "11" "1955238" "1955238" "subst" "1.23763E-5" "01804" "TNNT3_000023" "g.1955238G>A" "" "" "" "TNNT3(NM_006757.4):c.366G>A (p.(Ala122=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984937" "0" "90" "11" "1954967" "1954967" "subst" "0" "03565" "TNNT3_000001" "g.1954967G>A" "" "{PMID:Altin 2025:41473596}" "" "" "" "De novo" "" "" "0" "" "" "g.1933737G>A" "" "pathogenic (dominant)" "" "0000984938" "21" "90" "11" "1955680" "1955680" "subst" "0" "03565" "TNNT3_000025" "g.1955680G>A" "" "{PMID:Altin 2025:41473596}" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.1934450G>A" "" "pathogenic (recessive)" "" "0000984939" "11" "90" "11" "1944792" "1944792" "subst" "4.06088E-6" "03565" "TNNT3_000024" "g.1944792C>G" "" "{PMID:Altin 2025:41473596}" "" "" "" "Germline" "" "" "0" "" "" "g.1923562C>G" "" "likely pathogenic (recessive)" "" "0000998938" "0" "50" "11" "1955161" "1955161" "subst" "0" "01804" "TNNT3_000026" "g.1955161G>A" "" "" "" "TNNT3(NM_006757.3):c.289G>A (p.(Glu97Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998939" "0" "50" "11" "1955168" "1955168" "subst" "1.22306E-5" "01804" "TNNT3_000027" "g.1955168G>A" "" "" "" "TNNT3(NM_006757.3):c.296G>A (p.(Arg99His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998940" "0" "30" "11" "1956070" "1956070" "subst" "1.21846E-5" "01804" "TNNT3_000028" "g.1956070A>G" "" "" "" "TNNT3(NM_006757.3):c.602A>G (p.(Lys201Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038388" "0" "50" "11" "1955866" "1955866" "subst" "4.21752E-6" "01804" "TNNT3_000029" "g.1955866C>T" "" "" "" "TNNT3(NM_006757.4):c.571C>T (p.(Leu191Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038389" "0" "30" "11" "1955891" "1955891" "subst" "2.55977E-5" "01804" "TNNT3_000030" "g.1955891G>C" "" "" "" "TNNT3(NM_006757.4):c.590+6G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053765" "0" "50" "11" "1955676" "1955676" "subst" "4.0813E-6" "01804" "TNNT3_000031" "g.1955676G>A" "" "" "" "TNNT3(NM_006757.4):c.480+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001068661" "3" "90" "11" "1946474" "1946474" "subst" "4.71056E-5" "00006" "TNNT3_000032" "g.1946474G>A" "" "{PMID:Muller 2025:40554860}, {DOI:Yepez 2026:10.64898/2026.02.10.26345954}" "" "" "variant creates new intronic splice acceptor site; RNA expression 0.80 reduced; RNA transcript in paper differs from NM_006757.4, i.e. has insertion r.67_68ins67+140_67+160 and downstream changes" "Germline" "yes" "" "0" "" "" "g.1925244G>A" "" "likely pathogenic (recessive)" "" "0001068662" "3" "90" "11" "1946474" "1946474" "subst" "4.71056E-5" "00006" "TNNT3_000032" "g.1946474G>A" "" "{PMID:Muller 2025:40554860}, {DOI:Yepez 2026:10.64898/2026.02.10.26345954}" "" "" "variant creates new intronic splice acceptor site; RNA expression 0.80 reduced; RNA transcript in paper differs from NM_006757.4, i.e. has insertion r.67_68ins67+140_67+160 and downstream changes" "Germline" "yes" "" "0" "" "" "g.1925244G>A" "" "likely pathogenic (recessive)" "" "0001068687" "3" "70" "11" "1955775" "1955775" "subst" "2.10622E-5" "00006" "TNNT3_000033" "g.1955775G>A" "" "{PMID:Calame 2021:33977145}" "" "" "" "Germline" "" "" "0" "" "" "g.1934545G>A" "" "likely pathogenic (recessive)" "" "0001073138" "3" "90" "11" "1956150" "1956150" "subst" "8.12902E-6" "00006" "TNNT3_000011" "g.1956150G>A" "" "{PMID:Beecroft 2020:32153140}" "" "" "" "Germline" "" "" "0" "" "" "g.1934920G>A" "" "pathogenic (recessive)" "" ## 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 TNNT3 ## Count = 58 "{{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}}" "0000222864" "00021599" "90" "681" "1" "681" "1" "c.681+1G>A" "r.[591_681del,681_682ins[a;681+1_682-1],681_682ins[a;681+1_?]]" "p.0?" "14i" "0000247030" "00021599" "10" "367" "-16" "367" "-16" "c.367-16A>G" "r.(=)" "p.(=)" "" "0000309360" "00021599" "90" "188" "0" "188" "0" "c.188G>A" "r.(?)" "p.(Arg63His)" "" "0000309361" "00021599" "10" "636" "0" "636" "0" "c.636T>C" "r.(?)" "p.(Ile212=)" "" "0000309362" "00021599" "10" "762" "0" "762" "0" "c.762C>T" "r.(?)" "p.(Gly254=)" "" "0000311965" "00021599" "10" "762" "0" "762" "0" "c.762C>T" "r.(?)" "p.(Gly254=)" "" "0000314773" "00021599" "10" "367" "-9" "367" "-9" "c.367-9T>C" "r.(=)" "p.(=)" "" "0000314774" "00021599" "30" "723" "-15" "723" "-15" "c.723-15G>C" "r.(=)" "p.(=)" "" "0000339036" "00021599" "90" "187" "0" "187" "0" "c.187C>T" "r.(?)" "p.(Arg63Cys)" "" "0000355087" "00021599" "50" "414" "0" "414" "0" "c.414G>A" "r.(?)" "p.(Glu138=)" "12" "0000355088" "00021599" "50" "636" "0" "636" "0" "c.636T>C" "r.(?)" "p.(Ile212=)" "14" "0000355089" "00021599" "50" "762" "0" "762" "0" "c.762C>T" "r.(?)" "p.(Gly254=)" "16" "0000355090" "00021599" "50" "-18" "-482" "-18" "-482" "c.-18-482G>A" "r.(?)" "p.(=)" "1i" "0000355091" "00021599" "50" "-18" "-379" "-18" "-379" "c.-18-379C>A" "r.(?)" "p.(=)" "1i" "0000355092" "00021599" "50" "18" "-76" "18" "-76" "c.18-76A>G" "r.(?)" "p.(=)" "2i" "0000355093" "00021599" "50" "32" "-149" "32" "-149" "c.32-149A>T" "r.(?)" "p.(=)" "3i" "0000355510" "00021599" "90" "188" "0" "188" "0" "c.188G>A" "r.(?)" "p.(Arg63His)" "10" "0000355511" "00021599" "90" "188" "0" "188" "0" "c.188G>A" "r.(?)" "p.(Arg63His)" "10" "0000355512" "00021599" "90" "188" "0" "188" "0" "c.188G>A" "r.(?)" "p.(Arg63His)" "10" "0000355513" "00021599" "90" "188" "0" "188" "0" "c.188G>A" "r.(?)" "p.(Arg63His)" "10" "0000355514" "00021599" "50" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Arg110Cys)" "11" "0000355515" "00021599" "90" "187" "0" "187" "0" "c.187C>T" "r.(?)" "p.(Arg63Cys)" "10" "0000355547" "00021599" "90" "187" "0" "187" "0" "c.187C>A" "r.(?)" "p.(Arg63Ser)" "10" "0000355548" "00021599" "90" "187" "0" "187" "0" "c.187C>T" "r.(?)" "p.(Arg63Cys)" "10" "0000355549" "00021599" "90" "187" "0" "187" "0" "c.187C>T" "r.(?)" "p.(Arg63Cys)" "10" "0000355550" "00021599" "90" "188" "0" "188" "0" "c.188G>A" "r.(?)" "p.(Arg63His)" "10" "0000355551" "00021599" "90" "188" "0" "188" "0" "c.188G>A" "r.(?)" "p.(Arg63His)" "10" "0000355552" "00021599" "90" "188" "0" "188" "0" "c.188G>A" "r.(?)" "p.(Arg63His)" "10" "0000355553" "00021599" "90" "188" "0" "188" "0" "c.188G>A" "r.(?)" "p.(Arg63His)" "10" "0000355554" "00021599" "90" "188" "0" "188" "0" "c.188G>A" "r.(?)" "p.(Arg63His)" "10" "0000355555" "00021599" "90" "188" "0" "188" "0" "c.188G>A" "r.(?)" "p.(Arg63His)" "10" "0000438833" "00021599" "50" "50" "-9" "50" "-9" "c.50-9G>A" "r.(?)" "p.(=)" "" "0000543415" "00021599" "90" "188" "0" "188" "0" "c.188G>A" "r.(?)" "p.(Arg63His)" "" "0000648194" "00021599" "30" "636" "0" "636" "0" "c.636T>C" "r.(=)" "p.(=)" "" "0000669115" "00021599" "30" "636" "0" "636" "0" "c.636T>C" "r.(=)" "p.(=)" "" "0000691026" "00021599" "50" "206" "0" "206" "0" "c.206T>C" "r.(?)" "p.(Met69Thr)" "" "0000697745" "00021599" "70" "82" "1" "82" "1" "c.82+1G>A" "r.spl" "p.?" "" "0000723357" "00021599" "70" "187" "0" "187" "0" "c.187C>A" "r.(?)" "p.(Arg63Ser)" "" "0000723358" "00021599" "10" "367" "-9" "367" "-9" "c.367-9T>C" "r.(=)" "p.(=)" "" "0000881913" "00021599" "50" "0" "0" "0" "0" "c.-212_*214{1}" "r.?" "p.?" "_1_16_" "0000889752" "00021599" "10" "107" "-6" "107" "-6" "c.107-6G>A" "r.(=)" "p.(=)" "" "0000889753" "00021599" "10" "597" "0" "597" "0" "c.597G>A" "r.(?)" "p.(Lys199=)" "" "0000925358" "00021599" "30" "125" "26" "125" "84" "c.125+26_125+84del" "r.(=)" "p.(=)" "" "0000979507" "00021599" "90" "187" "0" "187" "0" "c.187C>T" "r.(?)" "p.(Arg63Cys)" "" "0000979508" "00021599" "50" "366" "0" "366" "0" "c.366G>A" "r.(?)" "p.(=)" "" "0000984937" "00021599" "90" "188" "0" "188" "0" "c.188G>A" "r.(?)" "p.(Arg63His)" "" "0000984938" "00021599" "90" "480" "5" "480" "5" "c.480+5G>A" "r.(480_481ins[GTGTA;480+6_481-1])" "p.(Ala161ValfsTer35)" "21i" "0000984939" "00021599" "90" "39" "0" "39" "0" "c.39C>G" "r.(?)" "p.(Tyr13Ter)" "" "0000998938" "00021599" "50" "289" "0" "289" "0" "c.289G>A" "r.(?)" "p.(Glu97Lys)" "" "0000998939" "00021599" "50" "296" "0" "296" "0" "c.296G>A" "r.(?)" "p.(Arg99His)" "" "0000998940" "00021599" "30" "602" "0" "602" "0" "c.602A>G" "r.(?)" "p.(Lys201Arg)" "" "0001038388" "00021599" "50" "571" "0" "571" "0" "c.571C>T" "r.(?)" "p.(Leu191Phe)" "" "0001038389" "00021599" "30" "590" "6" "590" "6" "c.590+6G>C" "r.(=)" "p.(=)" "" "0001053765" "00021599" "50" "480" "1" "480" "1" "c.480+1G>A" "r.spl?" "p.?" "" "0001068661" "00021599" "90" "67" "128" "67" "128" "c.67+128G>A" "r.67_68ins67+130_67+160" "p.?" "5i" "0001068662" "00021599" "90" "67" "128" "67" "128" "c.67+128G>A" "r.67_68ins67+130_67+160" "p.?" "5i" "0001068687" "00021599" "70" "481" "-1" "481" "-1" "c.481-1G>A" "r.(481del)" "p.(Ala161LeufsTer14)" "12i" "0001073138" "00021599" "90" "681" "1" "681" "1" "c.681+1G>A" "r.spl" "p.?" "14i" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 28 "{{screeningid}}" "{{variantid}}" "0000133625" "0000222864" "0000155733" "0000355510" "0000155734" "0000355511" "0000155735" "0000355512" "0000155736" "0000355513" "0000155737" "0000355514" "0000155738" "0000355515" "0000155768" "0000355547" "0000155769" "0000355548" "0000155770" "0000355549" "0000155771" "0000355550" "0000155772" "0000355551" "0000155773" "0000355552" "0000155774" "0000355553" "0000155775" "0000355554" "0000155776" "0000355555" "0000208838" "0000438833" "0000291505" "0000648194" "0000305427" "0000669115" "0000315656" "0000697745" "0000421233" "0000881913" "0000451155" "0000984937" "0000451156" "0000984938" "0000451156" "0000984939" "0000474349" "0001068661" "0000474350" "0001068662" "0000474368" "0001068687" "0000477751" "0001073138"