### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TNNT1) # 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}}" "TNNT1" "troponin T type 1 (skeletal, slow)" "19" "q13.4" "no" "NG_011829.2" "UD_132118918046" "" "https://www.LOVD.nl/TNNT1" "" "1" "11948" "7138" "191041" "1" "1" "1" "1" "This database is one of the gene variant databases from the:

" "" "g" "https://databases.lovd.nl/shared/refseq/TNNT1_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 19:49:26" "00000" "2025-11-01 13:22:20" ## 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}}" "00021597" "TNNT1" "transcript variant 1" "003" "NM_003283.4" "" "NP_003274.3" "" "" "" "-89" "959" "837" "55660606" "55644161" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "02541" "NEM5" "myopathy, nemaline, type 5 (NEM-5)" "AR" "605355" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04164" "NEM" "myopathy, nemaline (NEM)" "" "" "" "" "" "00006" "2014-12-22 16:43:09" "00006" "2018-07-06 19:02:59" "05123" "SMA" "atrophy, muscular, spinal (SMA)" "" "" "" "" "" "00006" "2016-01-24 01:41:54" "" "" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TNNT1" "02541" ## Individuals ## Do not remove or alter this header ## ## Count = 42 "{{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}}" "00037250" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037251" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037252" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037253" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037254" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00154677" "" "" "" "6" "" "00006" "{PMID:Johnston 2000:10952871}, {PMID:Jin 2003:12732643}, {PMID:Wang 2005:15665378}" "10-generation consanguineous family, 6 affecteds" "" "yes" "United States" "<02y" "0" "" "" "Amish" "" "00154678" "" "" "" "1" "" "00464" "" "" "" "" "United States" "<1y" "0" "" "" "" "" "00154679" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" "" "00154680" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" "" "00154681" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" "" "00154682" "" "" "" "2" "" "01715" "" "" "F" "yes" "Iran" "" "0" "" "" "" "" "00374524" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3156" "00374525" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2314" "00377597" "" "" "" "2" "" "04066" "{PMID:Holling 2022:35510366}" "family, affected mother/son" "F" "no" "Germany" "" "0" "" "" "" "mother" "00377598" "" "" "00377597" "1" "" "04066" "{PMID:Holling 2022:35510366}" "son" "M" "no" "Germany" "" "0" "" "" "" "son" "00394186" "" "" "" "1" "" "00006" "{PMID:Geraud 2021:32994279}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "France" "00y29m" "0" "" "" "Basque" "Pat1" "00394187" "" "" "" "1" "" "00006" "{PMID:Geraud 2021:32994279}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "France" "00y16m" "0" "" "" "" "Pat2" "00394188" "" "" "" "1" "" "00006" "{PMID:Geraud 2021:32994279}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "France" "00y06m" "0" "" "" "Africa-N" "Pat3" "00394189" "" "" "" "3" "" "00006" "{PMID:van der Pol 2014:24689076}" "family, 3 affected, index case and 2 deceased paternal cousins" "M" "" "Netherlands" "" "0" "" "" "white" "family" "00394190" "" "" "00394189" "1" "" "00006" "{PMID:van der Pol 2014:24689076}" "paternal cousin" "M" "no" "Netherlands" "03y" "0" "" "" "" "family" "00394191" "" "" "00394189" "1" "" "00006" "{PMID:van der Pol 2014:24689076}" "paternal cousin" "F" "" "Netherlands" "" "0" "" "" "" "family" "00394192" "" "" "" "1" "" "00006" "{PMID:Marra 2015:25430424}" "5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "United States" "" "0" "" "" "Hispanic" "FamPatV1" "00394303" "" "" "" "10" "" "00006" "{PMID:Konersman 2017:29178646}" "4-generation family, affected (4F, 6M)" "M" "" "United States" "" "0" "" "" "Jewish-Ashkenazi" "FamPatIV16" "00394308" "" "" "00394303" "1" "" "00006" "{PMID:Konersman 2017:29178646}" "brother of PatIV16" "M" "" "United States" "" "0" "" "" "Jewish-Ashkenazi" "FamPatIV15" "00394309" "" "" "00394303" "1" "" "00006" "{PMID:Konersman 2017:29178646}" "brother of PatIV16" "M" "" "United States" "" "0" "" "" "Jewish-Ashkenazi" "FamPatIV13" "00394310" "" "" "00394303" "1" "" "00006" "{PMID:Konersman 2017:29178646}" "father PatIV16" "M" "" "United States" "" "0" "" "" "Jewish-Ashkenazi" "FamPatIII9" "00394311" "" "" "00394303" "1" "" "00006" "{PMID:Konersman 2017:29178646}" "nephew of PatIII9" "M" "" "United States" "" "0" "" "" "Jewish-Ashkenazi" "FamPatIII6" "00394312" "" "" "00394303" "1" "" "00006" "{PMID:Konersman 2017:29178646}" "niece of PatIII9" "F" "" "United States" "" "0" "" "" "Jewish-Ashkenazi" "FamPatIII5" "00394313" "" "" "00394303" "1" "" "00006" "{PMID:Konersman 2017:29178646}" "niece of PatIII9" "F" "" "United States" "" "0" "" "" "Jewish-Ashkenazi" "FamPatIII4" "00394314" "" "" "00394303" "1" "" "00006" "{PMID:Konersman 2017:29178646}" "sister of PatIII4" "F" "" "United States" "" "0" "" "" "Jewish-Ashkenazi" "FamPatIII2" "00394315" "" "" "00394303" "1" "" "00006" "{PMID:Konersman 2017:29178646}" "mother of PatIII2/4" "F" "" "United States" "" "0" "" "" "Jewish-Ashkenazi" "FamPatII1" "00394374" "" "" "" "1" "" "00006" "{PMID:Abdulhaq 2017:262964906}" "" "M" "" "" "5y5m" "0" "" "" "" "Pat1" "00394375" "" "" "" "2" "" "00006" "{PMID:Abdulhaq 2017:262964906}" "family, affected twin brothers" "M" "" "" "5y4m" "0" "" "" "" "Pat2" "00394376" "" "" "" "1" "" "00006" "{PMID:Abdulhaq 2017:262964906}" "twin" "M" "" "" "4y" "0" "" "" "" "Pat3" "00394377" "" "" "" "1" "" "00006" "{PMID:Abdulhaq 2017:262964906}" "" "M" "" "" "" "0" "" "" "" "Pat4" "00394378" "" "" "" "1" "" "00006" "{PMID:Abdulhaq 2017:262964906}" "" "F" "" "" "11y" "0" "" "" "" "Pat5" "00394379" "" "" "" "1" "" "00006" "{PMID:Abdulhaq 2017:262964906}" "" "M" "" "" "6y" "0" "" "" "" "Pat6" "00394380" "" "" "" "1" "" "00006" "{PMID:Abdulhaq 2017:262964906}" "" "F" "" "" "" "0" "" "" "" "Pat7" "00394381" "" "" "" "1" "" "00006" "{PMID:Abdulhaq 2017:262964906}" "" "F" "" "" "" "0" "" "" "" "Pat8" "00394382" "" "" "" "1" "" "00006" "{PMID:Abdulhaq 2017:262964906}" "" "F" "" "" "2y5m" "0" "" "" "" "Pat9" "00404927" "" "" "" "1" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "Fam9" "00442698" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "F" "" "" "" "0" "" "" "" "Pat70" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 42 "{{individualid}}" "{{diseaseid}}" "00037250" "00198" "00037251" "00198" "00037252" "00198" "00037253" "00198" "00037254" "00198" "00154677" "04164" "00154678" "04164" "00154679" "00198" "00154680" "00198" "00154681" "00198" "00154682" "04164" "00374524" "00198" "00374525" "00198" "00377597" "04164" "00377598" "04164" "00394186" "04164" "00394187" "04164" "00394188" "04164" "00394189" "04164" "00394190" "04164" "00394191" "04164" "00394192" "04164" "00394303" "04164" "00394308" "04164" "00394309" "04164" "00394310" "04164" "00394311" "04164" "00394312" "04164" "00394313" "04164" "00394314" "04164" "00394315" "04164" "00394374" "04164" "00394375" "04164" "00394376" "04164" "00394377" "04164" "00394378" "04164" "00394379" "04164" "00394380" "04164" "00394381" "04164" "00394382" "04164" "00404927" "05123" "00442698" "05618" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02541, 04164, 05123, 05618 ## Count = 42 "{{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}}" "0000127413" "04164" "00154677" "00006" "Familial" "" "tremors with hypotonia/mild contractures shoulders/hips (birth), progressive worsening proximal contractures, weakness, pectus carinatum deformity develops before children die of respiratory insufficiency (2nd year)" "00y00m01d" "" "tremors" "WB no TNNT1" "" "" "" "" "NEM-5" "myopathy, nemaline" "" "0000127414" "04164" "00154678" "00464" "Unknown" "" "form unknown" "1d" "" "" "" "" "" "" "" "" "myopathy, nemaline" "" "0000127415" "00198" "00154679" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000127416" "00198" "00154680" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000127417" "00198" "00154681" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000127418" "04164" "00154682" "01715" "Familial, autosomal recessive" "" "" "0y" "" "" "" "" "" "" "" "NEM-5" "myopathy, nemaline, Amish type" "" "0000156852" "00198" "00037250" "01164" "Unknown" "" "fetal physical inactivity, generalized hypotonia, Kataplexie, kraniofaziale Dysmorphie,sucking weakness" "" "" "" "" "" "" "" "" "" "fetal physical inactivity" "" "0000156853" "00198" "00037251" "01164" "Unknown" "" "fetal physical inactivity, generalized hypotonia, Kataplexie, kraniofaziale Dysmorphie,sucking weakness" "" "" "" "" "" "" "" "" "" "fetal physical inactivity" "" "0000156854" "00198" "00037252" "01164" "Unknown" "" "fetal physical inactivity, generalized hypotonia, Kataplexie, kraniofaziale Dysmorphie,sucking weakness" "" "" "" "" "" "" "" "" "" "fetal physical inactivity" "" "0000156855" "00198" "00037253" "01164" "Unknown" "" "fetal physical inactivity, generalized hypotonia, Kataplexie, kraniofaziale Dysmorphie,sucking weakness" "" "" "" "" "" "" "" "" "" "fetal physical inactivity" "" "0000156856" "00198" "00037254" "01164" "Unknown" "" "fetal physical inactivity, generalized hypotonia, Kataplexie, kraniofaziale Dysmorphie,sucking weakness" "" "" "" "" "" "" "" "" "" "fetal physical inactivity" "" "0000269734" "00198" "00374524" "00006" "Familial, autosomal recessive" "" "Global developmental delay, hypomyelination, spasticity, hypotonia, flat facies and has a history of old fractures" "" "" "" "" "" "" "" "" "" "myopathy" "" "0000269735" "00198" "00374525" "00006" "Familial, autosomal recessive" "" "Motor delay, proximal muscle weakness, dysmorphism and chest deformity" "" "" "" "" "" "" "" "" "" "myopathy" "" "0000272749" "04164" "00377597" "04066" "Familial, autosomal dominant" "" "nemaline myopathy" "" "" "" "" "" "" "" "" "Nemaline myopathy" "Myopathy" "" "0000272750" "04164" "00377598" "04066" "Familial, autosomal dominant" "" "autosomal-dominant nemaline myopathy" "" "" "" "" "" "" "" "" "Nemaline myopathy" "Myopathy" "" "0000287392" "04164" "00394186" "00006" "Familial, autosomal recessive" "00y27m" "see paper; ..., 29m-deceased; no foetal hypomobility; ogival palate; global hypotony; facial hypomimia; altered global mobility; no altered fine motor skills; tremor in the first few months of life; normal cognition; dysarthria, expressive language delay; failure to thrive; peripheral articular retraction; rigid spine; no diaphragm atrophy, diaphragmatic hernia; thoracic dystrophy; kyphoscoliosis; respiratory failure; non-invasive ventilation; gastrostomy" "00y02m" "" "axial hypotinia, peripheral hypotonia" "" "" "" "" "" "NEM5" "" "" "0000287393" "04164" "00394187" "00006" "Familial, autosomal recessive" "01y04m" "see paper; ..., 16m-deceased; no foetal hypomobility; no ogival palate; global hypotony; facial hypomimia; altered global mobility; no altered fine motor skills; no tremor in the first few months of life; normal cognition; no dysarthria, expressive language delay; failure to thrive; peripheral articular retraction; rigid spine; no diaphragm atrophy, diaphragmatic hernia; thoracic dystrophy; kyphoscoliosis; respiratory failure; no ventilatory support; no gastrostomy" "00y02m" "" "axial hypotinia, peripheral hypotonia" "" "" "" "" "" "NEM5" "" "" "0000287394" "04164" "00394188" "00006" "Familial, autosomal recessive" "00y06m" "see paper; ..., 6m-deceased; no foetal hypomobility; no ogival palate; global hypotony; altered global mobility; no altered fine motor skills; no tremor in the first few months of life; normal cognition; no dysarthria, expressive language delay; no failure to thrive; no peripheral articular retraction; no rigid spine; diaphragm atrophy, diaphragmatic hernia; no thoracic dystrophy; no kyphoscoliosis; respiratory failure; non-invasive ventilation; gastrostomy" "00y02m" "" "axial hypotinia, peripheral hypotonia" "" "" "" "" "" "NEM5" "" "" "0000287395" "04164" "00394189" "00006" "Familial, autosomal recessive" "" "see paper; ..., <2y-deceased; no foetal hypomobility; no ogival palate; global hypotony; altered global mobility; no altered fine motor skills; no tremor in the first few months of life; normal cognition; no dysarthria, expressive language delay; failure to thrive; peripheral articular retraction; no rigid spine; diaphragm atrophy, diaphragmatic hernia; thoracic dystrophy; kyphoscoliosis; respiratory failure; tracheotomy; gastrostomy" "" "" "" "" "" "" "" "" "NEM5" "" "" "0000287396" "04164" "00394190" "00006" "Familial, autosomal recessive" "03y" "3y-deceased due to respiratory insufficiency; severe hypotonia, muscle weakness, contractures elbows and knees" "" "" "" "" "" "" "" "" "NEM5" "" "" "0000287397" "04164" "00394191" "00006" "Familial, autosomal recessive" "05y" "5y-deceased due to respiratory insufficiency; severe hypotonia, muscle weakness, severe pectus carinatum with kyphosis, contractures elbows and ankles" "" "" "" "" "" "" "" "" "NEM5" "" "" "0000287398" "04164" "00394192" "00006" "Familial, autosomal recessive" "02y06m" "see paper; ..., no foetal hypomobility; no ogival palate; global hypotony; altered global mobility; no altered fine motor skills; tremor in the first few months of life; normal cognition; dysarthria, expressive language delay; failure to thrive; peripheral articular retraction; no rigid spine; no diaphragm atrophy, diaphragmatic hernia; thoracic dystrophy; kyphoscoliosis; respiratory failure; non-invasive ventilation; no gastrostomy" "" "" "" "" "" "" "" "" "NEM5" "" "" "0000287509" "04164" "00394303" "00006" "Familial, autosomal dominant" "18y" "fatiguing lower extremity muscles with prolonged exercise, mild facial weakness; high arched palate; elongated myopathic facies; pectus carinatum; mild scoliosis; mild waddling gait, 8y-inability to walk on heels; slender build; mild proximal muscle weakness, poor jump, quadriceps weakness; reduced deep tendon reflexe upper extremities; EMG 11y-myopathic; symptomatic improvement in endurance with l‐tyrosine 2 g/day for 3y; CK 249 (ref 30–150 IU/L); muscle biopsy nemaline rods almost exclusively present in type 1 fibers, striking fiber type disproportion, atrophic type 1 fibers and type 1 predominance" "" "" "" "" "" "" "" "" "NEM" "" "" "0000287514" "04164" "00394308" "00006" "Familial, autosomal dominant" "23y" "15y-mild difficulty lower extremity weight lifting; high arched palate; mild myopathic facies; reduced reflexes upper extremities compared to lower, absent at ankles; normal strength with ability to squat, jump, rise from kneeling position; unable to heel walk; no pectus deformity; no scoliosis; muscle biopsy nemaline rods almost exclusively in type 1 fibers and very rarely in type 2 fibers, congenital fiber type disproportion with relatively atrophic (20–70 um) type 1 and hypertrophic (100–130 um), EM demonstrated mitochondrial inclusions, no nemaline rods (likely secondary to sampling artifact)" "" "" "" "" "" "" "" "" "NEM" "" "" "0000287515" "04164" "00394309" "00006" "Familial, autosomal dominant" "37y" "minor occasional tripping; minor difficulty heel walking, mild Achilles contractures bilaterally; high arched palate with elongated facies; no proximal muscle weakness, all deep tendon reflexes present; CK 57 (ref 38–174)" "" "" "" "" "" "" "" "" "NEM" "" "" "0000287516" "04164" "00394310" "00006" "Familial, autosomal dominant" "69y" "in retrospect, noted inability to “bulk up” in his 20s (no focal muscle weakness) during weight training; very active in his youth, lean musculature; with age minor fatiguing in legs with prolonged exercise; elongated facies, high arched palate; normal reflexes; no pectus deformities; no difficulty walking on heels; 65y-minor dysphagia; reported symptomatic improvement in endurance with l‐tyrosine 2 g/day for 1y; CK 176 at age 65 (ref 30–220 U/L); muscle biopsy nemaline rods almost exclusively in type 1 fibers very rarely in type 2 fibers, evidence of fiber type disproportion with atrophic (20–40 um) type 1 and hypertrophic (80–100 um) type 2 fibers, type 1 fiber predominance" "" "" "" "" "" "" "" "" "NEM" "" "" "0000287517" "04164" "00394311" "00006" "Familial, autosomal dominant" "67y" "slow runner, difficulty riding bicycle compared to peers as teenager; mild gradual proximal muscle weakness with age; high arched palate; pectus carinatum; myopathic, elongated facies; deep tendon reflexes absent only at Achilles, brachioradialis bilaterally; 63y-no run, no jump, difficulty ascending stairs, can walk 3 miles/day; 63y-no Gower\'s maneuver; 15y-kyphosis, mild scoliosis; scapular winging; slender build; able to heel walk mildly unsteady, CK 142 (ref 39–308 IU/L); muscle biopsy nemaline rods mostly present in type 1 and rarely found in type 2 fibers., fiber type disproportion with atrophic type 1 and hypertrophic type 2 fibers, type 1 fiber predominance" "" "" "" "" "" "" "" "" "NEM" "" "" "0000287518" "04164" "00394312" "00006" "Familial, autosomal dominant" "71y" "late teens Gowers\' sign; difficulty walking long distance, rising from chair, climbing stairs; slender build; pectus carinatum; 18y-normal deep tendon reflexes; snoring, obstructive sleep apnea; 67y-walk independently, unable to heel walk; muscle biopsy nemaline rods mostly present in type 1 and rarely found in type 2 fibers, fiber type disproportion with atrophic type 1 and hypertrophic type 2 fibers" "" "" "" "" "" "" "" "" "NEM" "" "" "0000287519" "04164" "00394313" "00006" "Familial, autosomal dominant" "61y" "5y-Gowers\' sign, difficulty running, climbing, jumping; childhood toe walking with minor difficulty, 54y-heel walking; gradual weakness in leg, 60y-independently ambulatory; slender build; no pectus deformity; high arched palate; 54y-no run, minor difficulty swallowing; muscle biopsy nemaline rods mostly present in type 1 and rarely found in type 2 fibers, fiber type disproportion with atrophic type 1 and hypertrophic type 2 fibers" "" "" "" "" "" "" "" "" "NEM" "" "" "0000287520" "04164" "00394314" "00006" "Familial, autosomal dominant" "65y" "infancy lordotic posture, Gowers\' sign, difficulty climbing stairs and running, waddling gait;10y-pes cavus, inability to walk on heels; mild dyspnea on exertion since teens; moderate difficulty walking prolonged distances; decreased deep tendon reflexes upper extremities; 50y-mild occasional dysphagia; slender build; 65y-still ambulatory, can walk for more than 1h; noticed improvement in dyspnea on exertion with daily sustained exercise for several hours; muscle biopsy nemaline rods present in type 1 and 2 fibers distributed unevenly throughout sarcoplasm" "" "" "" "" "" "" "" "" "NEM" "" "" "0000287521" "04164" "00394315" "00006" "Familial, autosomal dominant" "80y" "80y-deceased of stroke and complications of heart failure; 8y-inability to heel walk and waddle; 39y-mild shoulder/pelvic girdle weakness; 80y-intermittent use walker, dyspnea on exertion; 39y-normal deep tendon reflexes; slender build; 80y-able to ascend stairs with marked difficulty prior to death; muscle biopsy nemaline rods present in type 1 and 2 fibers and distributed unevenly throughout sarcoplasm, qualitatively fewer rods daughter III2" "" "" "" "" "" "" "" "" "NEM" "" "" "0000287578" "04164" "00394374" "00006" "Familial, autosomal recessive" "" "5.4y-deceased; poor fetal movements; transient tremor; hypotonia; kyphosis, stiff neck; failure to thrive; 1y5m-mechanical ventilation; percutaneous gastrostomy feeding; 10m-muscle biopsy, type II fiber predominance, type I fiber smallness, no fiber type grouping, focal endomysial fibrosis, no necrotic fibers, no regenerating fibers, whorled fibers, no central nuclei, no cores, no rods Gomori trichrom stain, electron microscopy no rods" "" "6m" "" "" "" "" "" "" "NEM5" "motor developmental delay" "" "0000287579" "04164" "00394375" "00006" "Familial, autosomal recessive" "" "5.3y-deceased; 33w-premature birth; transient tremor; hypotonia; kyphosis, stiff neck; failure to thrive; 1y-mechanical ventilation; percutaneous gastrostomy feeding; 20m-muscle biopsy, type I fiber predominance, fiber size random variation, no fiber type grouping, focal endomysial fibrosis, no necrotic fibers, no regenerating fibers, whorled fibers, no central nuclei, no cores, rods Gomori trichrom stain, electron microscopy rods" "" "4m" "" "" "" "" "" "" "NEM5" "motor developmental delay" "" "0000287580" "04164" "00394376" "00006" "Familial, autosomal recessive" "7y2m" "4y-deceased; 34w-premature birth; transient tremor; hypotonia; kyphosis, stiff neck; failure to thrive; 1y-mechanical ventilation; percutaneous gastrostomy feeding" "" "1y" "" "" "" "" "" "" "NEM5" "motor developmental delay" "" "0000287581" "04164" "00394377" "00006" "Familial, autosomal recessive" "3y9m" "poor fetal movements; transient tremor; hypotonia; kyphosis, stiff neck; failure to thrive; 1y-mechanical ventilation; percutaneous gastrostomy feeding; 9m-muscle biopsy, fiber type predominance, type I fiber smallness, no fiber type grouping, focal endomysial fibrosis, no necrotic fibers, no regenerating fibers, whorled fibers, no central nuclei, no cores, no rods Gomori trichrom stain, electron microscopy no rods" "" "19m" "" "" "" "" "" "" "NEM5" "motor developmental delay" "" "0000287582" "04164" "00394378" "00006" "Familial, autosomal recessive" "" "11y-deceased; no perinatal anomalies; no tremor; hypotonia; kyphosis, stiff neck; failure to thrive; 1y8m-mechanical ventilation; percutaneous gastrostomy feeding; 20m-muscle biopsy, type I fiber predominance, fiber size random variation, no fiber type grouping, focal endomysial fibrosis, no necrotic fibers, no regenerating fibers, focal whorled fibers, no central nuclei, no cores, rods Gomori trichrom stain" "" "2y" "" "" "" "" "" "" "NEM5" "motor developmental delay" "" "0000287583" "04164" "00394379" "00006" "Familial, autosomal recessive" "" "6y-deceased; poor fetal movements; transient tremor; hypotonia; kyphosis, stiff neck; failure to thrive; 2y-mechanical ventilation; percutaneous gastrostomy feeding; 14m-muscle biopsy, type II fiber predominance, type I fiber smallness, no fiber type grouping, focal endomysial fibrosis, no necrotic fibers, no regenerating fibers, few whorled fibers, no central nuclei, no cores, rods Gomori trichrom stain, electron microscopy rods" "" "2y" "" "" "" "" "" "" "NEM5" "motor developmental delay" "" "0000287584" "04164" "00394380" "00006" "Familial, autosomal recessive" "6y" "poor fetal movements; persistent tremor; hypotonia; kyphosis, stiff neck; failure to thrive; 4y5m-mechanical ventilation; percutaneous gastrostomy feeding; 47m-muscle biopsy, type II fiber predominance, type I fiber smallness, no fiber type grouping, focal endomysial fibrosis, no necrotic fibers, no regenerating fibers, no whorled fibers, no central nuclei, no cores, rods Gomori trichrom stain, electron microscopy no rods" "" "5y" "" "" "" "" "" "" "NEM5" "motor developmental delay" "" "0000287585" "04164" "00394381" "00006" "Familial, autosomal recessive" "2y1m" "no perinatal anomalies; transient tremor; hypotonia; no kyphosis, no stiff neck; no failure to thrive; 1y-bilevel positive airway pressure; normal feeding" "" "10m" "" "" "" "" "" "" "NEM5" "motor developmental delay" "" "0000287586" "04164" "00394382" "00006" "Familial, autosomal recessive" "" "2.4y-deceased; poor fetal movements; no tremor; hypotonia; kyphosis, stiff neck; failure to thrive; 1.8y-mechanical ventilation; normal feeding; 16m-muscle biopsy, type II fiber predominance, type I fiber smallness, no fiber type grouping, focal endomysial fibrosis, no necrotic fibers, no regenerating fibers, no whorled fibers, no central nuclei, no cores, no rods Gomori trichrom stain" "" "2y" "" "" "" "" "" "" "NEM5" "motor developmental delay" "" "0000297485" "05123" "00404927" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "spinal muscular atrophy" "" "0000332045" "05618" "00442698" "00006" "Familial, autosomal recessive" "1y" "Axial hypotonia and progressive myopathy (proximal > distal) with respiratory insufficiency and generalised tremors; muscle biopsy: presence of internal nuclei, focal rods and increased endomysial fibrosis; muscle ultrasound: no fasciculations, some hyperechogenic muscles; CK = 82 U/l; reduced mitochondrial energy production capacity" "1m" "" "" "" "" "" "" "" "" "Delayed motor development" "" ## Screenings ## Do not remove or alter this header ## ## Count = 42 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000037320" "00037250" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037321" "00037251" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037322" "00037252" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037323" "00037253" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037324" "00037254" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000155535" "00154677" "1" "00006" "00006" "2009-10-18 15:08:29" "00006" "2012-03-18 17:03:02" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000155536" "00154678" "1" "00464" "00464" "2010-01-15 16:37:08" "00006" "2014-06-06 15:25:27" "PCR;SEQ" "DNA" "" "" "0000155537" "00154679" "1" "00430" "00430" "2012-10-26 15:28:51" "" "" "SEQ" "DNA" "" "" "0000155538" "00154680" "1" "00430" "00430" "2012-10-26 15:28:51" "" "" "SEQ" "DNA" "" "" "0000155539" "00154681" "1" "00430" "00430" "2012-10-26 15:28:51" "" "" "SEQ" "DNA" "" "" "0000155540" "00154682" "1" "01715" "01715" "2016-02-19 00:36:04" "00006" "2016-03-18 13:05:21" "SEQ-NG-I" "DNA" "" "" "0000375718" "00374524" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375719" "00374525" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000378801" "00377597" "1" "04066" "04066" "2021-08-01 17:12:07" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000378802" "00377598" "1" "04066" "04066" "2021-08-01 17:28:40" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000395434" "00394186" "1" "00006" "00006" "2021-11-30 17:11:35" "00006" "2021-11-30 17:16:43" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000395435" "00394187" "1" "00006" "00006" "2021-11-30 17:11:35" "00006" "2021-11-30 17:23:17" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000395436" "00394188" "1" "00006" "00006" "2021-11-30 17:11:35" "00006" "2021-11-30 17:27:07" "SEQ" "DNA" "" "" "0000395437" "00394189" "1" "00006" "00006" "2021-11-30 17:40:49" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000395438" "00394190" "1" "00006" "00006" "2021-11-30 17:40:49" "" "" "SEQ" "DNA" "" "" "0000395439" "00394191" "1" "00006" "00006" "2021-11-30 17:40:49" "" "" "SEQ" "DNA" "" "" "0000395440" "00394192" "1" "00006" "00006" "2021-11-30 18:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "neuromuscular disease panel" "0000395551" "00394303" "1" "00006" "00006" "2021-11-30 19:26:26" "00006" "2021-11-30 19:33:54" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000395556" "00394308" "1" "00006" "00006" "2021-12-01 08:56:22" "" "" "SEQ" "DNA" "" "" "0000395557" "00394309" "1" "00006" "00006" "2021-12-01 08:59:33" "" "" "SEQ" "DNA" "" "" "0000395558" "00394310" "1" "00006" "00006" "2021-12-01 09:01:36" "" "" "SEQ" "DNA" "" "" "0000395559" "00394311" "1" "00006" "00006" "2021-12-01 09:05:42" "" "" "SEQ" "DNA" "" "" "0000395560" "00394312" "1" "00006" "00006" "2021-12-01 09:09:09" "" "" "SEQ" "DNA" "" "" "0000395561" "00394313" "1" "00006" "00006" "2021-12-01 09:11:32" "" "" "SEQ" "DNA" "" "" "0000395562" "00394314" "1" "00006" "00006" "2021-12-01 09:14:14" "" "" "SEQ" "DNA" "" "" "0000395563" "00394315" "1" "00006" "00006" "2021-12-01 09:16:35" "" "" "SEQ" "DNA" "" "" "0000395621" "00394374" "1" "00006" "00006" "2021-12-01 10:22:43" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000395622" "00394375" "1" "00006" "00006" "2021-12-01 10:22:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000395623" "00394376" "1" "00006" "00006" "2021-12-01 10:22:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000395624" "00394377" "1" "00006" "00006" "2021-12-01 10:22:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000395625" "00394378" "1" "00006" "00006" "2021-12-01 10:22:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000395626" "00394379" "1" "00006" "00006" "2021-12-01 10:22:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000395627" "00394380" "1" "00006" "00006" "2021-12-01 10:22:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000395628" "00394381" "1" "00006" "00006" "2021-12-01 10:22:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000395629" "00394382" "1" "00006" "00006" "2021-12-01 10:22:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000406165" "00404927" "1" "00006" "00006" "2022-03-10 21:18:05" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444182" "00442698" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 27 "{{screeningid}}" "{{geneid}}" "0000037320" "TNNT1" "0000037321" "TNNT1" "0000037322" "TNNT1" "0000037323" "TNNT1" "0000037324" "TNNT1" "0000155535" "TNNT1" "0000155536" "TNNT1" "0000155537" "TNNT1" "0000155538" "TNNT1" "0000155539" "TNNT1" "0000155540" "TNNT1" "0000375718" "TNNT1" "0000375719" "TNNT1" "0000395434" "TNNT1" "0000395435" "TNNT1" "0000395436" "TNNT1" "0000395437" "TNNT1" "0000395439" "TNNT1" "0000395551" "TNNT1" "0000395556" "TNNT1" "0000395557" "TNNT1" "0000395558" "TNNT1" "0000395559" "TNNT1" "0000395560" "TNNT1" "0000395561" "TNNT1" "0000395562" "TNNT1" "0000395563" "TNNT1" ## 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 = 170 "{{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}}" "0000064445" "1" "50" "19" "55652184" "55652189" "dup" "0" "01164" "TNNT1_000022" "g.55652184_55652189dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.55140816_55140821dup" "" "VUS" "" "0000064446" "1" "10" "19" "55660537" "55660537" "subst" "0.853413" "01164" "TNNT1_000025" "g.55660537T>C" "" "" "" "" "" "Germline" "" "rs9636153" "0" "" "" "g.55149169T>C" "" "benign" "" "0000064447" "1" "10" "19" "55658010" "55658010" "dup" "0" "01164" "TNNT1_000024" "g.55658010dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.55146642dup" "" "benign" "" "0000064448" "1" "50" "19" "55652176" "55652176" "subst" "0" "01164" "TNNT1_000023" "g.55652176A>C" "" "" "" "" "" "Germline" "" "rs112374566" "0" "" "" "g.55140808A>C" "" "VUS" "" "0000064449" "1" "10" "19" "55644325" "55644325" "subst" "0.986745" "01164" "TNNT1_000021" "g.55644325A>C" "" "" "" "" "" "Germline" "" "rs890868" "0" "" "" "g.55132957A>C" "" "benign" "" "0000247556" "0" "10" "19" "55665584" "55665584" "subst" "0.999984" "02330" "TNNI3_000150" "g.55665584A>C" "" "" "" "TNNI3(NM_000363.4):c.373-10T>G, TNNI3(NM_000363.5):c.373-10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154216=" "" "benign" "" "0000248241" "0" "10" "19" "55653297" "55653297" "subst" "0.11998" "02325" "TNNT1_000029" "g.55653297A>C" "" "" "" "TNNT1(NM_003283.6):c.129-9T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55141929A>C" "" "benign" "" "0000248255" "0" "10" "19" "55665584" "55665584" "subst" "0.999984" "02325" "TNNI3_000150" "g.55665584A>C" "" "" "" "TNNI3(NM_000363.4):c.373-10T>G, TNNI3(NM_000363.5):c.373-10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154216=" "" "benign" "" "0000248715" "0" "10" "19" "55644325" "55644325" "subst" "0.986745" "02325" "TNNT1_000021" "g.55644325A>C" "" "" "" "TNNT1(NM_003283.6):c.795T>G (p.R265=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55132957=" "" "benign" "" "0000250944" "0" "10" "19" "55653297" "55653297" "subst" "0.11998" "02326" "TNNT1_000029" "g.55653297A>C" "" "" "" "TNNT1(NM_003283.6):c.129-9T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55141929A>C" "" "benign" "" "0000251701" "0" "30" "19" "55665584" "55665584" "subst" "0.999984" "02326" "TNNI3_000150" "g.55665584A>C" "" "" "" "TNNI3(NM_000363.4):c.373-10T>G, TNNI3(NM_000363.5):c.373-10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154216=" "" "likely benign" "" "0000252320" "0" "30" "19" "55656895" "55656895" "subst" "0.000829957" "02326" "TNNT1_000015" "g.55656895A>C" "" "" "" "TNNT1(NM_003283.6):c.128+17T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55145527A>C" "" "likely benign" "" "0000255770" "0" "90" "19" "55652552" "55652552" "subst" "0" "01943" "TNNT1_000027" "g.55652552A>C" "" "" "" "TNNT1(NM_001291774.1):c.276+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55141184A>C" "" "pathogenic" "" "0000309287" "0" "50" "19" "55665540" "55665540" "subst" "4.07671E-6" "02330" "TNNI3_000063" "g.55665540C>T" "" "" "" "TNNI3(NM_000363.5):c.407G>A (p.R136Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154172C>T" "" "VUS" "" "0000309288" "0" "90" "19" "55665514" "55665514" "subst" "4.07242E-6" "02330" "TNNI3_000026" "g.55665514G>A" "" "" "" "TNNI3(NM_000363.4):c.433C>T (p.R145W), TNNI3(NM_000363.5):c.433C>T (p.R145W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154146G>A" "" "pathogenic" "" "0000309289" "0" "90" "19" "55665450" "55665450" "subst" "8.13935E-6" "02330" "TNNI3_000035" "g.55665450G>A" "" "" "" "TNNI3(NM_000363.4):c.497C>T (p.S166F), TNNI3(NM_000363.5):c.497C>T (p.S166F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154082G>A" "" "pathogenic" "" "0000309291" "0" "70" "19" "55665416" "55665416" "subst" "0" "02330" "TNNI3_000125" "g.55665416C>A" "" "" "" "TNNI3(NM_000363.5):c.531G>T (p.K177N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154048C>A" "" "likely pathogenic" "" "0000309293" "0" "10" "19" "55665410" "55665410" "subst" "0.0652763" "02330" "TNNI3_000015" "g.55665410C>T" "" "" "" "TNNI3(NM_000363.4):c.537G>A (p.E179=), TNNI3(NM_000363.5):c.537G>A (p.E179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154042C>T" "" "benign" "" "0000309294" "0" "10" "19" "55665404" "55665404" "subst" "0" "02330" "TNNI3_000121" "g.55665404G>A" "" "" "" "TNNI3(NM_000363.4):c.543C>T (p.T181=), TNNI3(NM_000363.5):c.543C>T (p.T181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154036G>A" "" "benign" "" "0000309295" "0" "10" "19" "55663295" "55663295" "subst" "0.00054878" "02330" "TNNI3_000118" "g.55663295G>A" "" "" "" "TNNI3(NM_000363.4):c.550-10C>T, TNNI3(NM_000363.5):c.550-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55151927G>A" "" "benign" "" "0000309297" "0" "10" "19" "55663235" "55663235" "subst" "0" "02330" "TNNI3_000116" "g.55663235T>C" "" "" "" "TNNI3(NM_000363.5):c.600A>G (p.G200=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55151867T>C" "" "benign" "" "0000309298" "0" "90" "19" "55663209" "55663209" "subst" "0" "02330" "TNNI3_000070" "g.55663209T>G" "" "" "" "TNNI3(NM_000363.4):c.626A>C (p.E209A), TNNI3(NM_000363.5):c.626A>C (p.E209A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55151841T>G" "" "pathogenic" "" "0000311934" "0" "90" "19" "55665514" "55665514" "subst" "4.07242E-6" "02325" "TNNI3_000026" "g.55665514G>A" "" "" "" "TNNI3(NM_000363.4):c.433C>T (p.R145W), TNNI3(NM_000363.5):c.433C>T (p.R145W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154146G>A" "" "pathogenic" "" "0000311935" "0" "90" "19" "55665513" "55665513" "subst" "1.62829E-5" "02325" "TNNI3_000012" "g.55665513C>T" "" "" "" "TNNI3(NM_000363.5):c.434G>A (p.R145Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154145C>T" "" "pathogenic" "" "0000311936" "0" "70" "19" "55665462" "55665462" "subst" "4.07024E-5" "02325" "TNNI3_000034" "g.55665462C>T" "" "" "" "TNNI3(NM_000363.4):c.485G>A (p.R162Q), TNNI3(NM_000363.5):c.485G>A (p.R162Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154094C>T" "" "likely pathogenic" "" "0000311937" "0" "90" "19" "55665450" "55665450" "subst" "8.13935E-6" "02325" "TNNI3_000035" "g.55665450G>A" "" "" "" "TNNI3(NM_000363.4):c.497C>T (p.S166F), TNNI3(NM_000363.5):c.497C>T (p.S166F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154082G>A" "" "pathogenic" "" "0000311938" "0" "10" "19" "55665410" "55665410" "subst" "0.0652763" "02325" "TNNI3_000015" "g.55665410C>T" "" "" "" "TNNI3(NM_000363.4):c.537G>A (p.E179=), TNNI3(NM_000363.5):c.537G>A (p.E179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154042C>T" "" "benign" "" "0000311939" "0" "90" "19" "55663263" "55663263" "subst" "0" "02325" "TNNI3_000117" "g.55663263C>T" "" "" "" "TNNI3(NM_000363.5):c.572G>A (p.W191*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55151895C>T" "" "pathogenic" "" "0000311940" "0" "30" "19" "55663229" "55663229" "subst" "8.12203E-6" "02325" "TNNI3_000115" "g.55663229C>T" "" "" "" "TNNI3(NM_000363.4):c.606G>A (p.E202=), TNNI3(NM_000363.5):c.606G>A (p.E202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55151861C>T" "" "likely benign" "" "0000311941" "0" "90" "19" "55663209" "55663209" "subst" "0" "02325" "TNNI3_000070" "g.55663209T>G" "" "" "" "TNNI3(NM_000363.4):c.626A>C (p.E209A), TNNI3(NM_000363.5):c.626A>C (p.E209A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55151841T>G" "" "pathogenic" "" "0000311943" "0" "10" "19" "55660537" "55660537" "subst" "0.853413" "02325" "TNNT1_000025" "g.55660537T>C" "" "" "" "TNNT1(NM_003283.6):c.-20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55149169T>C" "" "benign" "" "0000314724" "0" "10" "19" "55663167" "55663167" "subst" "0.00321786" "02326" "TNNI3_000113" "g.55663167G>A" "" "" "" "TNNI3(NM_000363.4):c.*35C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55151799G>A" "" "benign" "" "0000314731" "0" "30" "19" "55665578" "55665578" "subst" "0" "02326" "TNNI3_000135" "g.55665578G>A" "" "" "" "TNNI3(NM_000363.4):c.373-4C>T, TNNI3(NM_000363.5):c.373-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154210G>A" "" "likely benign" "" "0000314732" "0" "70" "19" "55665540" "55665540" "subst" "0" "02326" "TNNI3_000133" "g.55665540C>G" "" "" "" "TNNI3(NM_000363.4):c.407G>C (p.R136P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154172C>G" "" "likely pathogenic" "" "0000314733" "0" "70" "19" "55665454" "55665454" "subst" "0" "02326" "TNNI3_000127" "g.55665454C>T" "" "" "" "TNNI3(NM_000363.4):c.493G>A (p.E165K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154086C>T" "" "likely pathogenic" "" "0000314734" "0" "90" "19" "55665398" "55665398" "subst" "0" "02326" "TNNI3_000072" "g.55665398C>G" "" "" "" "TNNI3(NM_000363.4):c.549G>C (p.K183N), TNNI3(NM_000363.5):c.549G>C (p.K183N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154030C>G" "" "pathogenic" "" "0000314737" "0" "90" "19" "55652553" "55652553" "subst" "1.21827E-5" "02326" "TNNT1_000028" "g.55652553C>T" "" "" "" "TNNT1(NM_001291774.2):c.276+1G>A, TNNT1(NM_003283.6):c.309+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55141185C>T" "" "pathogenic" "" "0000314738" "0" "10" "19" "55658387" "55658387" "subst" "0.0695832" "02326" "TNNT1_000014" "g.55658387T>C" "" "" "" "TNNT1(NM_003283.6):c.35A>G (p.E12G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55147019T>C" "" "benign" "" "0000314739" "0" "90" "19" "55648544" "55648544" "subst" "4.06468E-6" "02326" "TNNT1_000026" "g.55648544C>A" "" "" "" "TNNT1(NM_003283.6):c.538G>T (p.E180*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55137176C>A" "" "pathogenic" "" "0000316853" "0" "30" "19" "55665578" "55665578" "subst" "0" "01943" "TNNI3_000135" "g.55665578G>A" "" "" "" "TNNI3(NM_000363.4):c.373-4C>T, TNNI3(NM_000363.5):c.373-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154210G>A" "" "likely benign" "" "0000316854" "0" "50" "19" "55665571" "55665571" "subst" "0" "01943" "TNNI3_000134" "g.55665571C>T" "" "" "" "TNNI3(NM_000363.4):c.376G>A (p.A126T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154203C>T" "" "VUS" "" "0000316855" "0" "90" "19" "55665514" "55665514" "subst" "4.07242E-6" "01943" "TNNI3_000026" "g.55665514G>A" "" "" "" "TNNI3(NM_000363.4):c.433C>T (p.R145W), TNNI3(NM_000363.5):c.433C>T (p.R145W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154146G>A" "" "pathogenic" "" "0000316856" "0" "90" "19" "55665477" "55665477" "subst" "0" "01943" "TNNI3_000030" "g.55665477G>A" "" "" "" "TNNI3(NM_000363.4):c.470C>T (p.A157V), TNNI3(NM_000363.5):c.470C>T (p.A157V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154109G>A" "" "pathogenic" "" "0000316857" "0" "50" "19" "55665456" "55665456" "subst" "0" "01943" "TNNI3_000069" "g.55665456T>G" "" "" "" "TNNI3(NM_000363.4):c.491A>C (p.K164T), TNNI3(NM_000363.5):c.491A>C (p.K164T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154088T>G" "" "VUS" "" "0000316858" "0" "90" "19" "55665450" "55665450" "subst" "8.13935E-6" "01943" "TNNI3_000035" "g.55665450G>A" "" "" "" "TNNI3(NM_000363.4):c.497C>T (p.S166F), TNNI3(NM_000363.5):c.497C>T (p.S166F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154082G>A" "" "pathogenic" "" "0000316859" "0" "10" "19" "55665410" "55665410" "subst" "0.0652763" "01943" "TNNI3_000015" "g.55665410C>T" "" "" "" "TNNI3(NM_000363.4):c.537G>A (p.E179=), TNNI3(NM_000363.5):c.537G>A (p.E179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154042C>T" "" "benign" "" "0000316860" "0" "10" "19" "55665404" "55665404" "subst" "0" "01943" "TNNI3_000121" "g.55665404G>A" "" "" "" "TNNI3(NM_000363.4):c.543C>T (p.T181=), TNNI3(NM_000363.5):c.543C>T (p.T181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154036G>A" "" "benign" "" "0000316861" "0" "10" "19" "55663295" "55663295" "subst" "0.00054878" "01943" "TNNI3_000118" "g.55663295G>A" "" "" "" "TNNI3(NM_000363.4):c.550-10C>T, TNNI3(NM_000363.5):c.550-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55151927G>A" "" "benign" "" "0000316862" "0" "90" "19" "55663209" "55663209" "subst" "0" "01943" "TNNI3_000070" "g.55663209T>G" "" "" "" "TNNI3(NM_000363.4):c.626A>C (p.E209A), TNNI3(NM_000363.5):c.626A>C (p.E209A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55151841T>G" "" "pathogenic" "" "0000338972" "0" "90" "19" "55652553" "55652553" "subst" "1.21827E-5" "02327" "TNNT1_000028" "g.55652553C>T" "" "" "" "TNNT1(NM_001291774.2):c.276+1G>A, TNNT1(NM_003283.6):c.309+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55141185C>T" "" "pathogenic" "" "0000341800" "0" "50" "19" "55652274" "55652274" "subst" "0" "02327" "TNNT1_000031" "g.55652274G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55140906G>A" "" "VUS" "" "0000349971" "0" "90" "19" "55648491" "55648491" "subst" "0" "02327" "TNNT1_000030" "g.55648491G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55137123G>T" "" "pathogenic" "" "0000355107" "0" "50" "19" "55648544" "55648544" "subst" "4.06468E-6" "00006" "TNNT1_000001" "g.55648544C>A" "" "{PMID:Wang 2005:15665378}" "" "" "cloned/expressed in C2C12, RNA but no protein detectable" "In vitro (cloned)" "" "" "0" "" "" "g.55137176C>A" "" "NA" "" "0000355108" "0" "50" "19" "55648544" "55648544" "subst" "4.06468E-6" "00006" "TNNT1_000001" "g.55648544C>A" "" "{PMID:Wang 2005:15665378}" "" "" "cloned/expressed in E.coli, RNA and protein detectable" "In vitro (cloned)" "" "" "0" "" "" "g.55137176C>A" "" "NA" "" "0000355109" "1" "50" "19" "55660537" "55660537" "subst" "0.853413" "00006" "TNNT1_000002" "g.55660537T>C" "0.66-0.87" "" "" "" "" "Germline" "" "rs9636153" "0" "" "" "g.55149169T>C" "" "VUS" "" "0000355110" "1" "50" "19" "55652584" "55652584" "subst" "0.000670051" "00006" "TNNT1_000003" "g.55652584T>C" "0.01" "" "" "" "" "Germline" "" "rs34313388" "0" "" "" "g.55141216T>C" "" "VUS" "" "0000355111" "1" "50" "19" "55644442" "55644442" "subst" "0" "00006" "TNNT1_000005" "g.55644442G>A" "0.07-0.43" "" "" "" "" "Germline" "" "rs891186" "0" "" "" "g.55133074G>A" "" "VUS" "" "0000355112" "1" "50" "19" "55644606" "55644606" "subst" "0" "00006" "TNNT1_000006" "g.55644606G>T" "0.16-0.44" "" "" "" "" "Germline" "" "rs891185" "0" "" "" "g.55133238G>T" "" "VUS" "" "0000355113" "1" "50" "19" "55648270" "55648270" "subst" "0" "00006" "TNNT1_000007" "g.55648270G>A" "0.03-0.26" "" "" "" "" "Germline" "" "rs3760873" "0" "" "" "g.55136902G>A" "" "VUS" "" "0000355114" "1" "50" "19" "55652758" "55652758" "subst" "0" "00006" "TNNT1_000008" "g.55652758A>G" "0.18-0.74" "" "" "" "" "Germline" "" "rs2560942" "0" "" "" "g.55141390A>G" "" "VUS" "" "0000355115" "1" "50" "19" "55657041" "55657041" "subst" "0" "00006" "TNNT1_000009" "g.55657041C>A" "0.04-0.35" "" "" "" "" "Germline" "" "rs2434454" "0" "" "" "g.55145673C>A" "" "VUS" "" "0000355116" "1" "50" "19" "55660499" "55660499" "subst" "0.19212" "00006" "TNNT1_000011" "g.55660499A>G" "0.09-0.12" "" "" "" "" "Germline" "" "rs28362592" "0" "" "" "g.55149131A>G" "" "VUS" "" "0000355306" "3" "90" "19" "55648544" "55648544" "subst" "4.06468E-6" "00006" "TNNT1_000001" "g.55648544C>A" "" "{PMID:Johnston 2000:10952871}, {PMID:Jin 2003:12732643}, {PMID:Wang 2005:15665378}, {OMIM191041:0001}" "" "579G>T (E180X)" "linkage analysis; not in 272 control chromosomes (incl. 72 Amish)" "Germline" "yes" "" "0" "" "" "g.55137176C>A" "" "pathogenic (recessive)" "" "0000355308" "1" "50" "19" "55658387" "55658387" "subst" "0.0695832" "00464" "TNNT1_000012" "g.55658387T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.55147019T>C" "" "VUS" "" "0000355309" "0" "10" "19" "55658387" "55658387" "subst" "0.0695832" "00430" "TNNT1_000012" "g.55658387T>C" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.55147019T>C" "" "benign" "" "0000355310" "0" "10" "19" "55658088" "55658088" "subst" "0.103658" "00430" "TNNT1_000010" "g.55658088G>A" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "rs11669534" "0" "" "" "g.55146720G>A" "" "benign" "" "0000355311" "0" "10" "19" "55644325" "55644325" "subst" "0" "00430" "TNNT1_000004" "g.55644325A>C" "" "from website {DBsub-Emory}" "" "795T>G" "" "Unknown" "" "rs890868" "0" "" "" "" "" "benign" "" "0000355312" "3" "70" "19" "55648476" "55648477" "ins" "0" "01715" "TNNT1_000013" "g.55648476_55648477insACTAC" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.55137108_55137109insACTAC" "" "likely pathogenic" "" "0000568459" "0" "90" "19" "55652553" "55652553" "subst" "1.21827E-5" "02325" "TNNT1_000028" "g.55652553C>T" "" "" "" "TNNT1(NM_001291774.2):c.276+1G>A, TNNT1(NM_003283.6):c.309+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55141185C>T" "" "pathogenic" "" "0000568460" "0" "30" "19" "55658397" "55658397" "subst" "0.0481959" "01804" "TNNI3_000153" "g.55658397C>T" "" "" "" "TNNT1(NM_001126132.1):c.33-8G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55147029C>T" "" "likely benign" "" "0000568461" "0" "50" "19" "55663225" "55663225" "subst" "0" "02326" "TNNI3_000079" "g.55663225G>A" "" "" "" "TNNI3(NM_000363.4):c.610C>T (p.R204C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55151857G>A" "" "VUS" "" "0000568462" "0" "30" "19" "55663229" "55663229" "subst" "8.12203E-6" "02326" "TNNI3_000115" "g.55663229C>T" "" "" "" "TNNI3(NM_000363.4):c.606G>A (p.E202=), TNNI3(NM_000363.5):c.606G>A (p.E202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55151861C>T" "" "likely benign" "" "0000568465" "0" "50" "19" "55663269" "55663269" "subst" "0" "02326" "TNNI3_000154" "g.55663269C>T" "" "" "" "TNNI3(NM_000363.4):c.566G>A (p.G189E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55151901C>T" "" "VUS" "" "0000568466" "0" "30" "19" "55663295" "55663295" "subst" "0.00054878" "02327" "TNNI3_000118" "g.55663295G>A" "" "" "" "TNNI3(NM_000363.4):c.550-10C>T, TNNI3(NM_000363.5):c.550-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55151927G>A" "" "likely benign" "" "0000568467" "0" "50" "19" "55665325" "55665330" "del" "0" "02327" "DNAAF3_000020" "g.55665325_55665330del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55153957_55153962del" "" "VUS" "" "0000568468" "0" "30" "19" "55665328" "55665329" "ins" "0" "02327" "DNAAF3_000021" "g.55665328_55665329insCTAGGC" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55153960_55153961insCTAGGC" "" "likely benign" "" "0000568469" "0" "30" "19" "55665404" "55665404" "subst" "0" "02326" "TNNI3_000121" "g.55665404G>A" "" "" "" "TNNI3(NM_000363.4):c.543C>T (p.T181=), TNNI3(NM_000363.5):c.543C>T (p.T181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154036G>A" "" "likely benign" "" "0000568470" "0" "70" "19" "55665408" "55665408" "subst" "0" "02325" "TNNI3_000062" "g.55665408T>C" "" "" "" "TNNI3(NM_000363.4):c.539A>G (p.D180G), TNNI3(NM_000363.5):c.539A>G (p.D180G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154040T>C" "" "likely pathogenic" "" "0000568471" "0" "50" "19" "55665408" "55665408" "subst" "0" "02326" "TNNI3_000062" "g.55665408T>C" "" "" "" "TNNI3(NM_000363.4):c.539A>G (p.D180G), TNNI3(NM_000363.5):c.539A>G (p.D180G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154040T>C" "" "VUS" "" "0000568472" "0" "10" "19" "55665410" "55665410" "subst" "0.0652763" "02327" "TNNI3_000015" "g.55665410C>T" "" "" "" "TNNI3(NM_000363.4):c.537G>A (p.E179=), TNNI3(NM_000363.5):c.537G>A (p.E179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154042C>T" "" "benign" "" "0000568474" "0" "90" "19" "55665450" "55665450" "subst" "8.13935E-6" "02327" "TNNI3_000035" "g.55665450G>A" "" "" "" "TNNI3(NM_000363.4):c.497C>T (p.S166F), TNNI3(NM_000363.5):c.497C>T (p.S166F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154082G>A" "" "pathogenic" "" "0000568475" "0" "90" "19" "55665463" "55665463" "subst" "4.07067E-5" "02330" "TNNI3_000013" "g.55665463G>A" "" "" "" "TNNI3(NM_000363.4):c.484C>T (p.R162W), TNNI3(NM_000363.5):c.484C>T (p.R162W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154095G>A" "" "pathogenic" "" "0000568476" "0" "50" "19" "55665463" "55665463" "subst" "4.07067E-5" "01943" "TNNI3_000013" "g.55665463G>A" "" "" "" "TNNI3(NM_000363.4):c.484C>T (p.R162W), TNNI3(NM_000363.5):c.484C>T (p.R162W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154095G>A" "" "VUS" "" "0000568477" "0" "90" "19" "55665514" "55665514" "subst" "4.07242E-6" "02326" "TNNI3_000026" "g.55665514G>A" "" "" "" "TNNI3(NM_000363.4):c.433C>T (p.R145W), TNNI3(NM_000363.5):c.433C>T (p.R145W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154146G>A" "" "pathogenic" "" "0000568478" "0" "50" "19" "55665519" "55665519" "subst" "4.07136E-5" "02330" "DNAAF3_000022" "g.55665519G>T" "" "" "" "TNNI3(NM_000363.5):c.428C>A (p.T143N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154151G>T" "" "VUS" "" "0000568479" "0" "70" "19" "55665526" "55665526" "subst" "0" "02330" "DNAAF3_000023" "g.55665526G>A" "" "" "" "TNNI3(NM_000363.4):c.421C>T (p.R141W), TNNI3(NM_000363.5):c.421C>T (p.R141W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154158G>A" "" "likely pathogenic" "" "0000568480" "0" "50" "19" "55665526" "55665526" "subst" "0" "01943" "DNAAF3_000023" "g.55665526G>A" "" "" "" "TNNI3(NM_000363.4):c.421C>T (p.R141W), TNNI3(NM_000363.5):c.421C>T (p.R141W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154158G>A" "" "VUS" "" "0000568481" "0" "10" "19" "55665578" "55665578" "subst" "0" "02330" "TNNI3_000135" "g.55665578G>A" "" "" "" "TNNI3(NM_000363.4):c.373-4C>T, TNNI3(NM_000363.5):c.373-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154210G>A" "" "benign" "" "0000568482" "0" "30" "19" "55665578" "55665578" "subst" "0" "02327" "TNNI3_000135" "g.55665578G>A" "" "" "" "TNNI3(NM_000363.4):c.373-4C>T, TNNI3(NM_000363.5):c.373-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154210G>A" "" "likely benign" "" "0000568483" "0" "10" "19" "55665584" "55665584" "subst" "0.999984" "02327" "TNNI3_000150" "g.55665584A>C" "" "" "" "TNNI3(NM_000363.4):c.373-10T>G, TNNI3(NM_000363.5):c.373-10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154216=" "" "benign" "" "0000568484" "0" "10" "19" "55665589" "55665589" "subst" "0.000289306" "02330" "DNAAF3_000024" "g.55665589G>C" "" "" "" "TNNI3(NM_000363.4):c.373-15C>G, TNNI3(NM_000363.5):c.373-15C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154221G>C" "" "benign" "" "0000568485" "0" "30" "19" "55665589" "55665589" "subst" "0.000289306" "02327" "DNAAF3_000024" "g.55665589G>C" "" "" "" "TNNI3(NM_000363.4):c.373-15C>G, TNNI3(NM_000363.5):c.373-15C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154221G>C" "" "likely benign" "" "0000617871" "0" "30" "19" "55663229" "55663229" "subst" "8.12203E-6" "02327" "TNNI3_000115" "g.55663229C>T" "" "" "" "TNNI3(NM_000363.4):c.606G>A (p.E202=), TNNI3(NM_000363.5):c.606G>A (p.E202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55151861C>T" "" "likely benign" "" "0000617872" "0" "30" "19" "55663250" "55663250" "subst" "6.09196E-5" "02327" "TNNI3_000156" "g.55663250G>A" "" "" "" "TNNI3(NM_000363.4):c.585C>T (p.I195=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55151882G>A" "" "likely benign" "" "0000617873" "0" "10" "19" "55663298" "55663298" "subst" "4.88102E-5" "02330" "TNNI3_000157" "g.55663298G>A" "" "" "" "TNNI3(NM_000363.5):c.550-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55151930G>A" "" "benign" "" "0000617876" "0" "50" "19" "55665519" "55665519" "subst" "4.07136E-5" "02327" "DNAAF3_000022" "g.55665519G>T" "" "" "" "TNNI3(NM_000363.5):c.428C>A (p.T143N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154151G>T" "" "VUS" "" "0000617878" "0" "30" "19" "55665563" "55665563" "subst" "1.63592E-5" "02327" "DNAAF3_000053" "g.55665563C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154195C>T" "" "likely benign" "" "0000624089" "0" "30" "19" "55663250" "55663250" "subst" "6.09196E-5" "02326" "TNNI3_000156" "g.55663250G>A" "" "" "" "TNNI3(NM_000363.4):c.585C>T (p.I195=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55151882G>A" "" "likely benign" "" "0000658664" "0" "50" "19" "55663203" "55663203" "subst" "0" "02326" "TNNI3_000159" "g.55663203C>T" "" "" "" "TNNI3(NM_000363.4):c.632G>A (p.*211=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55151835C>T" "" "VUS" "" "0000658665" "0" "90" "19" "55665438" "55665438" "subst" "0" "02326" "TNNI3_000056" "g.55665438C>T" "" "" "" "TNNI3(NM_000363.4):c.509G>A (p.R170Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154070C>T" "" "pathogenic" "" "0000658666" "0" "90" "19" "55665439" "55665439" "subst" "0" "01943" "DNAAF3_000062" "g.55665439G>A" "" "" "" "TNNI3(NM_000363.4):c.508C>T (p.R170W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154071G>A" "" "pathogenic" "" "0000658667" "0" "70" "19" "55665525" "55665525" "subst" "0" "02326" "TNNI3_000029" "g.55665525C>T" "" "" "" "TNNI3(NM_000363.4):c.422G>A (p.R141Q), TNNI3(NM_000363.5):c.422G>A (p.R141Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154157C>T" "" "likely pathogenic" "" "0000681510" "0" "50" "19" "55663236" "55663236" "subst" "0" "01943" "TNNI3_000160" "g.55663236C>T" "" "" "" "TNNI3(NM_000363.4):c.599G>A (p.G200E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681511" "0" "70" "19" "55665462" "55665462" "subst" "4.07024E-5" "02330" "TNNI3_000034" "g.55665462C>T" "" "" "" "TNNI3(NM_000363.4):c.485G>A (p.R162Q), TNNI3(NM_000363.5):c.485G>A (p.R162Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000692887" "0" "70" "19" "55665462" "55665462" "subst" "4.07024E-5" "01943" "TNNI3_000034" "g.55665462C>T" "" "" "" "TNNI3(NM_000363.4):c.485G>A (p.R162Q), TNNI3(NM_000363.5):c.485G>A (p.R162Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000727528" "0" "30" "19" "55645300" "55645300" "subst" "0.000951939" "01804" "TNNT1_000033" "g.55645300G>A" "" "" "" "TNNT1(NM_001126132.1):c.703-5C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727529" "0" "90" "19" "55665477" "55665477" "subst" "0" "02330" "TNNI3_000030" "g.55665477G>A" "" "" "" "TNNI3(NM_000363.4):c.470C>T (p.A157V), TNNI3(NM_000363.5):c.470C>T (p.A157V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000787069" "3" "70" "19" "55658493" "55658493" "subst" "2.03751E-5" "00006" "TNNT1_000035" "g.55658493C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.55147125C>T" "" "likely pathogenic" "" "0000787070" "3" "70" "19" "55645433" "55645433" "subst" "0" "00006" "TNNT1_000034" "g.55645433C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs111998831" "0" "" "" "g.55134065C>T" "" "likely pathogenic" "" "0000791703" "0" "90" "19" "55652669" "55652669" "subst" "0" "04066" "TNNT1_000036" "g.55652669T>G" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.55141301T>G" "" "pathogenic (dominant)" "other" "0000791704" "21" "90" "19" "55652669" "55652669" "subst" "0" "04066" "TNNT1_000036" "g.55652669T>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.55141301T>G" "" "pathogenic (dominant)" "other" "0000809053" "0" "50" "19" "55665398" "55665398" "subst" "0" "02325" "TNNI3_000072" "g.55665398C>G" "" "" "" "TNNI3(NM_000363.4):c.549G>C (p.K183N), TNNI3(NM_000363.5):c.549G>C (p.K183N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000826736" "3" "90" "19" "55650646" "55652994" "del" "0" "00006" "TNNT1_000037" "g.55650646_55652994del" "" "{PMID:Geraud 2021:32994279}" "" "g.55650633_55652981del" "" "Germline" "" "" "0" "" "" "g.55139278_55141626del" "" "pathogenic (recessive)" "" "0000826737" "1" "90" "19" "55652304" "55652304" "subst" "0" "00006" "TNNT1_000038" "g.55652304C>A" "" "{PMID:Geraud 2021:32994279}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000826738" "2" "90" "19" "55657901" "55657901" "subst" "0" "00006" "TNNT1_000039" "g.55657901G>T" "" "{PMID:Geraud 2021:32994279}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000826739" "3" "90" "19" "55658510" "55658510" "subst" "0" "00006" "TNNT1_000040" "g.55658510C>A" "" "{PMID:Geraud 2021:32994279}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000826740" "11" "90" "19" "55652553" "55652553" "subst" "1.21827E-5" "00006" "TNNT1_000028" "g.55652553C>T" "" "{PMID:van der Pol 2014:24689076}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000826741" "21" "90" "19" "55644161" "55644329" "del" "0" "00006" "TNNT1_000041" "g.(?_55644161)_(55644329_55645254)del" "" "{PMID:van der Pol 2014:24689076}" "" "del ex14" "" "Germline" "" "" "0" "" "" "g.(?_55132793)_(55132961_55133886)del" "" "pathogenic (recessive)" "" "0000826743" "3" "90" "19" "55652553" "55652553" "subst" "1.21827E-5" "00006" "TNNT1_000028" "g.55652553C>T" "" "{PMID:van der Pol 2014:24689076}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000826744" "3" "90" "19" "55652553" "55652553" "subst" "1.21827E-5" "00006" "TNNT1_000028" "g.55652553C>T" "" "{PMID:van der Pol 2014:24689076}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000826745" "3" "90" "19" "55652315" "55652315" "subst" "0" "00006" "TNNT1_000042" "g.55652315G>C" "" "{PMID:Marra 2015:25430424}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000826904" "11" "90" "19" "55652327" "55652327" "subst" "0" "00006" "TNNT1_000043" "g.55652327T>A" "" "{PMID:Konersman 2017:29178646}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000826912" "11" "90" "19" "55652327" "55652327" "subst" "0" "00006" "TNNT1_000043" "g.55652327T>A" "" "{PMID:Konersman 2017:29178646}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000826914" "11" "90" "19" "55652327" "55652327" "subst" "0" "00006" "TNNT1_000043" "g.55652327T>A" "" "{PMID:Konersman 2017:29178646}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000826916" "11" "90" "19" "55652327" "55652327" "subst" "0" "00006" "TNNT1_000043" "g.55652327T>A" "" "{PMID:Konersman 2017:29178646}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000826919" "11" "90" "19" "55652327" "55652327" "subst" "0" "00006" "TNNT1_000043" "g.55652327T>A" "" "{PMID:Konersman 2017:29178646}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000826921" "11" "90" "19" "55652327" "55652327" "subst" "0" "00006" "TNNT1_000043" "g.55652327T>A" "" "{PMID:Konersman 2017:29178646}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000826923" "21" "90" "19" "55652327" "55652327" "subst" "0" "00006" "TNNT1_000043" "g.55652327T>A" "" "{PMID:Konersman 2017:29178646}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000826925" "21" "90" "19" "55652327" "55652327" "subst" "0" "00006" "TNNT1_000043" "g.55652327T>A" "" "{PMID:Konersman 2017:29178646}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000826927" "0" "90" "19" "55652327" "55652327" "subst" "0" "00006" "TNNT1_000043" "g.55652327T>A" "" "{PMID:Konersman 2017:29178646}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000827012" "3" "90" "19" "55648472" "55648475" "delins" "0" "00006" "TNNT1_000044" "g.55648472_55648475delinsACAGCACTA" "" "{PMID:Abdulhaq 2017:262964906}" "" "574_577delinsTAGTGCTGT (Leu203*)" "" "Germline" "" "" "0" "" "" "g.55137104_55137107delinsACAGCACTA" "" "pathogenic (recessive)" "" "0000827013" "3" "90" "19" "55648472" "55648475" "delins" "0" "00006" "TNNT1_000044" "g.55648472_55648475delinsACAGCACTA" "" "{PMID:Abdulhaq 2017:262964906}" "" "574_577delinsTAGTGCTGT (Leu203*)" "" "Germline" "" "" "0" "" "" "g.55137104_55137107delinsACAGCACTA" "" "pathogenic (recessive)" "" "0000827014" "3" "90" "19" "55648472" "55648475" "delins" "0" "00006" "TNNT1_000044" "g.55648472_55648475delinsACAGCACTA" "" "{PMID:Abdulhaq 2017:262964906}" "" "574_577delinsTAGTGCTGT (Leu203*)" "" "Germline" "" "" "0" "" "" "g.55137104_55137107delinsACAGCACTA" "" "pathogenic (recessive)" "" "0000827015" "3" "90" "19" "55648472" "55648475" "delins" "0" "00006" "TNNT1_000044" "g.55648472_55648475delinsACAGCACTA" "" "{PMID:Abdulhaq 2017:262964906}" "" "574_577delinsTAGTGCTGT (Leu203*)" "" "Germline" "" "" "0" "" "" "g.55137104_55137107delinsACAGCACTA" "" "pathogenic (recessive)" "" "0000827016" "3" "90" "19" "55648472" "55648475" "delins" "0" "00006" "TNNT1_000044" "g.55648472_55648475delinsACAGCACTA" "" "{PMID:Abdulhaq 2017:262964906}" "" "574_577delinsTAGTGCTGT (Leu203*)" "" "Germline" "" "" "0" "" "" "g.55137104_55137107delinsACAGCACTA" "" "pathogenic (recessive)" "" "0000827017" "3" "90" "19" "55648472" "55648475" "delins" "0" "00006" "TNNT1_000044" "g.55648472_55648475delinsACAGCACTA" "" "{PMID:Abdulhaq 2017:262964906}" "" "574_577delinsTAGTGCTGT (Leu203*)" "" "Germline" "" "" "0" "" "" "g.55137104_55137107delinsACAGCACTA" "" "pathogenic (recessive)" "" "0000827018" "3" "90" "19" "55648472" "55648475" "delins" "0" "00006" "TNNT1_000044" "g.55648472_55648475delinsACAGCACTA" "" "{PMID:Abdulhaq 2017:262964906}" "" "574_577delinsTAGTGCTGT (Leu203*)" "" "Germline" "" "" "0" "" "" "g.55137104_55137107delinsACAGCACTA" "" "pathogenic (recessive)" "" "0000827019" "3" "90" "19" "55648472" "55648475" "delins" "0" "00006" "TNNT1_000044" "g.55648472_55648475delinsACAGCACTA" "" "{PMID:Abdulhaq 2017:262964906}" "" "574_577delinsTAGTGCTGT (Leu203*)" "" "Germline" "" "" "0" "" "" "g.55137104_55137107delinsACAGCACTA" "" "pathogenic (recessive)" "" "0000827020" "3" "90" "19" "55648472" "55648475" "delins" "0" "00006" "TNNT1_000044" "g.55648472_55648475delinsACAGCACTA" "" "{PMID:Abdulhaq 2017:262964906}" "" "574_577delinsTAGTGCTGT (Leu203*)" "" "Germline" "" "" "0" "" "" "g.55137104_55137107delinsACAGCACTA" "" "pathogenic (recessive)" "" "0000842396" "3" "90" "19" "55653289" "55653289" "subst" "0" "00006" "TNNT1_000045" "g.55653289C>T" "" "{PMID:Sharifi 2021:33481221}" "" "" "" "Germline" "" "" "0" "" "" "g.55141921C>T" "" "pathogenic (recessive)" "ACMG" "0000855696" "0" "90" "19" "55663209" "55663209" "subst" "0" "02326" "TNNI3_000070" "g.55663209T>G" "" "" "" "TNNI3(NM_000363.4):c.626A>C (p.E209A), TNNI3(NM_000363.5):c.626A>C (p.E209A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000855697" "0" "30" "19" "55663221" "55663221" "subst" "0" "02327" "TNNI3_000186" "g.55663221T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855698" "0" "70" "19" "55665408" "55665408" "subst" "0" "02327" "TNNI3_000062" "g.55665408T>C" "" "" "" "TNNI3(NM_000363.4):c.539A>G (p.D180G), TNNI3(NM_000363.5):c.539A>G (p.D180G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000855699" "0" "10" "19" "55665463" "55665463" "subst" "0" "02330" "DNAAF3_000074" "g.55665463G>T" "" "" "" "TNNI3(NM_000363.5):c.484C>A (p.R162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000866271" "0" "30" "19" "55665452" "55665452" "subst" "0" "01943" "DNAAF3_000073" "g.55665452C>A" "" "" "" "TNNI3(NM_000363.4):c.495G>T (p.E165D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895129" "0" "50" "19" "55663253" "55663253" "subst" "0" "02327" "TNNI3_000188" "g.55663253G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895130" "0" "50" "19" "55665394" "55665397" "del" "0" "02330" "DNAAF3_000078" "g.55665394_55665397del" "" "" "" "TNNI3(NM_000363.5):c.549+4_549+7delAGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895131" "0" "50" "19" "55665456" "55665456" "subst" "0" "02330" "TNNI3_000069" "g.55665456T>G" "" "" "" "TNNI3(NM_000363.4):c.491A>C (p.K164T), TNNI3(NM_000363.5):c.491A>C (p.K164T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895132" "0" "90" "19" "55665462" "55665462" "subst" "0" "02325" "TNNI3_000047" "g.55665462C>G" "" "" "" "TNNI3(NM_000363.5):c.485G>C (p.R162P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000895133" "0" "90" "19" "55665477" "55665477" "subst" "0" "02326" "TNNI3_000030" "g.55665477G>A" "" "" "" "TNNI3(NM_000363.4):c.470C>T (p.A157V), TNNI3(NM_000363.5):c.470C>T (p.A157V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000926942" "0" "70" "19" "55665408" "55665408" "subst" "0" "02330" "TNNI3_000062" "g.55665408T>C" "" "" "" "TNNI3(NM_000363.4):c.539A>G (p.D180G), TNNI3(NM_000363.5):c.539A>G (p.D180G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000926943" "0" "50" "19" "55665456" "55665456" "subst" "0" "02326" "TNNI3_000069" "g.55665456T>G" "" "" "" "TNNI3(NM_000363.4):c.491A>C (p.K164T), TNNI3(NM_000363.5):c.491A>C (p.K164T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931104" "0" "10" "19" "55663229" "55663229" "subst" "8.12203E-6" "02330" "TNNI3_000115" "g.55663229C>T" "" "" "" "TNNI3(NM_000363.4):c.606G>A (p.E202=), TNNI3(NM_000363.5):c.606G>A (p.E202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000931105" "0" "90" "19" "55663278" "55663278" "subst" "0" "02330" "TNNI3_000032" "g.55663278C>T" "" "" "" "TNNI3(NM_000363.5):c.557G>A (p.R186Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000931106" "0" "70" "19" "55665398" "55665398" "subst" "0" "02330" "TNNI3_000072" "g.55665398C>G" "" "" "" "TNNI3(NM_000363.4):c.549G>C (p.K183N), TNNI3(NM_000363.5):c.549G>C (p.K183N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000931107" "0" "90" "19" "55665417" "55665419" "del" "0" "02329" "TNNI3_000031" "g.55665417_55665419del" "" "" "" "TNNI3(NM_000363.5):c.532_534delAAG (p.K178del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000946039" "3" "90" "19" "55648491" "55648491" "subst" "0" "00006" "TNNT1_000030" "g.55648491G>T" "" "{PMID:Westra 2019:31127727}" "" "" "" "Germline" "" "" "0" "" "" "g.55137123G>T" "" "pathogenic (recessive)" "" "0000951360" "0" "90" "19" "55665450" "55665450" "subst" "8.13935E-6" "02326" "TNNI3_000035" "g.55665450G>A" "" "" "" "TNNI3(NM_000363.4):c.497C>T (p.S166F), TNNI3(NM_000363.5):c.497C>T (p.S166F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000951361" "0" "90" "19" "55665525" "55665525" "subst" "0" "02330" "TNNI3_000029" "g.55665525C>T" "" "" "" "TNNI3(NM_000363.4):c.422G>A (p.R141Q), TNNI3(NM_000363.5):c.422G>A (p.R141Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000951362" "0" "10" "19" "55665590" "55665590" "subst" "4.54835E-5" "02330" "DNAAF3_000087" "g.55665590G>A" "" "" "" "TNNI3(NM_000363.5):c.373-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000969994" "0" "30" "19" "55665589" "55665589" "subst" "0.000289306" "02326" "DNAAF3_000024" "g.55665589G>C" "" "" "" "TNNI3(NM_000363.4):c.373-15C>G, TNNI3(NM_000363.5):c.373-15C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983655" "0" "50" "19" "55663194" "55663194" "del" "4.06118E-6" "02325" "TNNI3_000190" "g.55663194del" "" "" "" "TNNI3(NM_000363.5):c.*8delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983656" "0" "90" "19" "55663261" "55663261" "subst" "0" "02330" "TNNI3_000067" "g.55663261G>A" "" "" "" "TNNI3(NM_000363.5):c.574C>T (p.R192C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000983657" "0" "90" "19" "55665438" "55665438" "subst" "0" "02327" "TNNI3_000056" "g.55665438C>T" "" "" "" "TNNI3(NM_000363.4):c.509G>A (p.R170Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001015832" "0" "50" "19" "55663286" "55663286" "subst" "0" "02327" "TNNI3_000193" "g.55663286C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027268" "0" "70" "19" "55663280" "55663280" "subst" "0" "02326" "TNNI3_000059" "g.55663280G>C" "" "" "" "TNNI3(NM_000363.4):c.555C>G (p.N185K), TNNI3(NM_000363.5):c.555C>G (p.N185K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001043178" "0" "50" "19" "55648472" "55648472" "subst" "2.11638E-5" "01804" "TNNT1_000046" "g.55648472G>A" "" "" "" "TNNT1(NM_003283.6):c.610C>T (p.(Arg204Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043179" "0" "70" "19" "55663280" "55663280" "subst" "0" "02325" "TNNI3_000059" "g.55663280G>C" "" "" "" "TNNI3(NM_000363.4):c.555C>G (p.N185K), TNNI3(NM_000363.5):c.555C>G (p.N185K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001043180" "0" "70" "19" "55665540" "55665540" "subst" "4.07671E-6" "02327" "TNNI3_000063" "g.55665540C>T" "" "" "" "TNNI3(NM_000363.5):c.407G>A (p.R136Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001056803" "0" "50" "19" "55648502" "55648502" "subst" "0.000162617" "01804" "TNNT1_000047" "g.55648502C>T" "" "" "" "TNNT1(NM_003283.6):c.580G>A (p.(Asp194Asn))" "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 TNNT1 ## Count = 170 "{{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}}" "0000064445" "00021597" "50" "387" "83" "387" "88" "c.387+83_387+88dup" "r.(=)" "p.(=)" "" "0000064446" "00021597" "10" "-20" "0" "-20" "0" "c.-20A>G" "r.(=)" "p.(=)" "" "0000064447" "00021597" "10" "73" "45" "73" "45" "c.73+45dup" "r.(=)" "p.(=)" "" "0000064448" "00021597" "50" "387" "75" "387" "75" "c.387+75T>G" "r.(=)" "p.(=)" "" "0000064449" "00021597" "10" "795" "0" "795" "0" "c.795T>G" "r.(=)" "p.(=)" "" "0000247556" "00021597" "10" "-5067" "0" "-5067" "0" "c.-5067T>G" "r.(?)" "p.(=)" "" "0000248241" "00021597" "10" "129" "-9" "129" "-9" "c.129-9T>G" "r.(=)" "p.(=)" "" "0000248255" "00021597" "10" "-5067" "0" "-5067" "0" "c.-5067T>G" "r.(?)" "p.(=)" "" "0000248715" "00021597" "10" "795" "0" "795" "0" "c.795=" "r.(=)" "p.(Arg265=)" "" "0000250944" "00021597" "10" "129" "-9" "129" "-9" "c.129-9T>G" "r.(=)" "p.(=)" "" "0000251701" "00021597" "30" "-5067" "0" "-5067" "0" "c.-5067T>G" "r.(?)" "p.(=)" "" "0000252320" "00021597" "30" "128" "17" "128" "17" "c.128+17T>G" "r.(=)" "p.(=)" "" "0000255770" "00021597" "90" "309" "2" "309" "2" "c.309+2T>G" "r.spl?" "p.?" "" "0000309287" "00021597" "50" "-5023" "0" "-5023" "0" "c.-5023G>A" "r.(?)" "p.(=)" "" "0000309288" "00021597" "90" "-4997" "0" "-4997" "0" "c.-4997C>T" "r.(?)" "p.(=)" "" "0000309289" "00021597" "90" "-4933" "0" "-4933" "0" "c.-4933C>T" "r.(?)" "p.(=)" "" "0000309291" "00021597" "70" "-4899" "0" "-4899" "0" "c.-4899G>T" "r.(?)" "p.(=)" "" "0000309293" "00021597" "10" "-4893" "0" "-4893" "0" "c.-4893G>A" "r.(?)" "p.(=)" "" "0000309294" "00021597" "10" "-4887" "0" "-4887" "0" "c.-4887C>T" "r.(?)" "p.(=)" "" "0000309295" "00021597" "10" "-2778" "0" "-2778" "0" "c.-2778C>T" "r.(?)" "p.(=)" "" "0000309297" "00021597" "10" "-2718" "0" "-2718" "0" "c.-2718A>G" "r.(?)" "p.(=)" "" "0000309298" "00021597" "90" "-2692" "0" "-2692" "0" "c.-2692A>C" "r.(?)" "p.(=)" "" "0000311934" "00021597" "90" "-4997" "0" "-4997" "0" "c.-4997C>T" "r.(?)" "p.(=)" "" "0000311935" "00021597" "90" "-4996" "0" "-4996" "0" "c.-4996G>A" "r.(?)" "p.(=)" "" "0000311936" "00021597" "70" "-4945" "0" "-4945" "0" "c.-4945G>A" "r.(?)" "p.(=)" "" "0000311937" "00021597" "90" "-4933" "0" "-4933" "0" "c.-4933C>T" "r.(?)" "p.(=)" "" "0000311938" "00021597" "10" "-4893" "0" "-4893" "0" "c.-4893G>A" "r.(?)" "p.(=)" "" "0000311939" "00021597" "90" "-2746" "0" "-2746" "0" "c.-2746G>A" "r.(?)" "p.(=)" "" "0000311940" "00021597" "30" "-2712" "0" "-2712" "0" "c.-2712G>A" "r.(?)" "p.(=)" "" "0000311941" "00021597" "90" "-2692" "0" "-2692" "0" "c.-2692A>C" "r.(?)" "p.(=)" "" "0000311943" "00021597" "10" "-20" "0" "-20" "0" "c.-20A>G" "r.(?)" "p.(=)" "" "0000314724" "00021597" "10" "-2650" "0" "-2650" "0" "c.-2650C>T" "r.(?)" "p.(=)" "" "0000314731" "00021597" "30" "-5061" "0" "-5061" "0" "c.-5061C>T" "r.(?)" "p.(=)" "" "0000314732" "00021597" "70" "-5023" "0" "-5023" "0" "c.-5023G>C" "r.(?)" "p.(=)" "" "0000314733" "00021597" "70" "-4937" "0" "-4937" "0" "c.-4937G>A" "r.(?)" "p.(=)" "" "0000314734" "00021597" "90" "-4881" "0" "-4881" "0" "c.-4881G>C" "r.(?)" "p.(=)" "" "0000314737" "00021597" "90" "309" "1" "309" "1" "c.309+1G>A" "r.spl?" "p.?" "" "0000314738" "00021597" "10" "35" "0" "35" "0" "c.35A>G" "r.(?)" "p.(Glu12Gly)" "" "0000314739" "00021597" "90" "538" "0" "538" "0" "c.538G>T" "r.(?)" "p.(Glu180Ter)" "" "0000316853" "00021597" "30" "-5061" "0" "-5061" "0" "c.-5061C>T" "r.(?)" "p.(=)" "" "0000316854" "00021597" "50" "-5054" "0" "-5054" "0" "c.-5054G>A" "r.(?)" "p.(=)" "" "0000316855" "00021597" "90" "-4997" "0" "-4997" "0" "c.-4997C>T" "r.(?)" "p.(=)" "" "0000316856" "00021597" "90" "-4960" "0" "-4960" "0" "c.-4960C>T" "r.(?)" "p.(=)" "" "0000316857" "00021597" "50" "-4939" "0" "-4939" "0" "c.-4939A>C" "r.(?)" "p.(=)" "" "0000316858" "00021597" "90" "-4933" "0" "-4933" "0" "c.-4933C>T" "r.(?)" "p.(=)" "" "0000316859" "00021597" "10" "-4893" "0" "-4893" "0" "c.-4893G>A" "r.(?)" "p.(=)" "" "0000316860" "00021597" "10" "-4887" "0" "-4887" "0" "c.-4887C>T" "r.(?)" "p.(=)" "" "0000316861" "00021597" "10" "-2778" "0" "-2778" "0" "c.-2778C>T" "r.(?)" "p.(=)" "" "0000316862" "00021597" "90" "-2692" "0" "-2692" "0" "c.-2692A>C" "r.(?)" "p.(=)" "" "0000338972" "00021597" "90" "309" "1" "309" "1" "c.309+1G>A" "r.spl?" "p.?" "" "0000341800" "00021597" "50" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Arg122Cys)" "" "0000349971" "00021597" "90" "591" "0" "591" "0" "c.591C>A" "r.(?)" "p.(Tyr197Ter)" "" "0000355107" "00021597" "50" "538" "0" "538" "0" "c.538G>T" "r.538g>u" "p.0" "11" "0000355108" "00021597" "50" "538" "0" "538" "0" "c.538G>T" "r.538g>u" "p.Glu180*" "11" "0000355109" "00021597" "50" "-20" "0" "-20" "0" "c.-20A>G" "r.(?)" "p.(=)" "1" "0000355110" "00021597" "50" "279" "0" "279" "0" "c.279A>G" "r.(?)" "p.(=)" "8" "0000355111" "00021597" "50" "792" "-114" "792" "-114" "c.792-114C>T" "r.(?)" "p.(=)" "13i" "0000355112" "00021597" "50" "792" "-278" "792" "-278" "c.792-278C>A" "r.(?)" "p.(=)" "13i" "0000355113" "00021597" "50" "611" "201" "611" "201" "c.611+201C>T" "r.(?)" "p.(=)" "11i" "0000355114" "00021597" "50" "193" "-88" "193" "-88" "c.193-88T>C" "r.(?)" "p.(=)" "7i" "0000355115" "00021597" "50" "107" "-108" "107" "-108" "c.107-108G>T" "r.(?)" 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"p.(=)" "" "0000568465" "00021597" "50" "-2752" "0" "-2752" "0" "c.-2752G>A" "r.(?)" "p.(=)" "" "0000568466" "00021597" "30" "-2778" "0" "-2778" "0" "c.-2778C>T" "r.(?)" "p.(=)" "" "0000568467" "00021597" "50" "-4812" "0" "-4807" "0" "c.-4812_-4807del" "r.(?)" "p.(=)" "" "0000568468" "00021597" "30" "-4812" "0" "-4811" "0" "c.-4812_-4811insGCCTAG" "r.(?)" "p.(=)" "" "0000568469" "00021597" "30" "-4887" "0" "-4887" "0" "c.-4887C>T" "r.(?)" "p.(=)" "" "0000568470" "00021597" "70" "-4891" "0" "-4891" "0" "c.-4891A>G" "r.(?)" "p.(=)" "" "0000568471" "00021597" "50" "-4891" "0" "-4891" "0" "c.-4891A>G" "r.(?)" "p.(=)" "" "0000568472" "00021597" "10" "-4893" "0" "-4893" "0" "c.-4893G>A" "r.(?)" "p.(=)" "" "0000568474" "00021597" "90" "-4933" "0" "-4933" "0" "c.-4933C>T" "r.(?)" "p.(=)" "" "0000568475" "00021597" "90" "-4946" "0" "-4946" "0" "c.-4946C>T" "r.(?)" "p.(=)" "" "0000568476" "00021597" "50" "-4946" "0" "-4946" "0" "c.-4946C>T" "r.(?)" "p.(=)" "" "0000568477" "00021597" "90" "-4997" "0" "-4997" "0" "c.-4997C>T" "r.(?)" "p.(=)" "" "0000568478" "00021597" "50" "-5002" "0" "-5002" "0" "c.-5002C>A" "r.(?)" "p.(=)" "" "0000568479" "00021597" "70" "-5009" "0" "-5009" "0" "c.-5009C>T" "r.(?)" "p.(=)" "" "0000568480" "00021597" "50" "-5009" "0" "-5009" "0" "c.-5009C>T" "r.(?)" "p.(=)" "" "0000568481" "00021597" "10" "-5061" "0" "-5061" "0" "c.-5061C>T" "r.(?)" "p.(=)" "" "0000568482" "00021597" "30" "-5061" "0" "-5061" "0" "c.-5061C>T" "r.(?)" "p.(=)" "" "0000568483" "00021597" "10" "-5067" "0" "-5067" "0" "c.-5067T>G" "r.(?)" "p.(=)" "" "0000568484" "00021597" "10" "-5072" "0" "-5072" "0" "c.-5072C>G" "r.(?)" "p.(=)" "" "0000568485" "00021597" "30" "-5072" "0" "-5072" "0" "c.-5072C>G" "r.(?)" "p.(=)" "" "0000617871" "00021597" "30" "-2712" "0" "-2712" "0" "c.-2712G>A" "r.(?)" "p.(=)" "" "0000617872" "00021597" "30" "-2733" "0" "-2733" "0" "c.-2733C>T" "r.(?)" "p.(=)" "" "0000617873" "00021597" "10" "-2781" "0" "-2781" "0" "c.-2781C>T" "r.(?)" "p.(=)" "" "0000617876" "00021597" "50" "-5002" "0" "-5002" "0" "c.-5002C>A" "r.(?)" "p.(=)" "" "0000617878" "00021597" "30" "-5046" "0" "-5046" "0" "c.-5046G>A" "r.(?)" "p.(=)" "" "0000624089" "00021597" "30" "-2733" "0" "-2733" "0" "c.-2733C>T" "r.(?)" "p.(=)" "" "0000658664" "00021597" "50" "-2686" "0" "-2686" "0" "c.-2686G>A" "r.(?)" "p.(=)" "" "0000658665" "00021597" "90" "-4921" "0" "-4921" "0" "c.-4921G>A" "r.(?)" "p.(=)" "" "0000658666" "00021597" "90" "-4922" "0" "-4922" "0" "c.-4922C>T" "r.(?)" "p.(=)" "" "0000658667" "00021597" "70" "-5008" "0" "-5008" "0" "c.-5008G>A" "r.(?)" "p.(=)" "" "0000681510" "00021597" "50" "-2719" "0" "-2719" "0" "c.-2719G>A" "r.(?)" "p.(=)" "" "0000681511" "00021597" "70" "-4945" "0" "-4945" "0" "c.-4945G>A" "r.(?)" "p.(=)" "" "0000692887" "00021597" "70" "-4945" "0" "-4945" "0" "c.-4945G>A" "r.(?)" "p.(=)" "" "0000727528" "00021597" "30" "751" "-5" "751" "-5" "c.751-5C>T" "r.spl?" "p.?" "" "0000727529" "00021597" "90" "-4960" "0" "-4960" "0" "c.-4960C>T" "r.(?)" "p.(=)" "" "0000787069" "00021597" "70" "32" "1" "32" "1" "c.32+1G>A" "r.spl" "p.?" "2i" "0000787070" "00021597" "70" "750" "1" "750" "1" "c.750+1G>A" "r.spl" "p.?" "12i" "0000791703" "00021597" "90" "194" "0" "194" "0" "c.194A>C" "r.(194a>c)" "p.(Asp65Ala)" "8" "0000791704" "00021597" "90" "194" "0" "194" "0" "c.194A>C" "r.(194a>c)" "p.(Asp65Ala)" "8" "0000809053" "00021597" "50" "-4881" "0" "-4881" "0" "c.-4881G>C" "r.(?)" "p.(=)" "" "0000826736" "00021597" "90" "192" "244" "388" "-1191" "c.192+244_388-1191del" "r.193_387del" "p.0" "" "0000826737" "00021597" "90" "334" "0" "334" "0" "c.334G>T" "r.334g>u" "p.Glu112*" "9" "0000826738" "00021597" "90" "74" "-67" "74" "-67" "c.74-67C>A" "r.73_74ins74-65_74-1" "p.Pro26fs*" "4i" "0000826739" "00021597" "90" "16" "0" "16" "0" "c.16G>T" "r.(?)" "p.(Glu6*)" "" "0000826740" "00021597" "90" "309" "1" "309" "1" "c.309+1G>A" "r.193_309del" "p.Asp65_Ile103del" "8i" "0000826741" "00021597" "90" "0" "0" "0" "0" "c.(791+1_792-1)_*122{0}" "r.?" "p.?" "13i_14_" "0000826743" "00021597" "90" "309" "1" "309" "1" "c.309+1G>A" "r.(193_309del)" "p.(Asp65_Ile103del)" "8i" "0000826744" "00021597" "90" "309" "1" "309" "1" "c.309+1G>A" "r.(193_309del)" "p.(Asp65_Ile103del)" "8i" "0000826745" "00021597" "90" "323" "0" "323" "0" "c.323C>G" "r.(?)" "p.(Ser108*)" "9" "0000826904" "00021597" "90" "311" "0" "311" "0" "c.311A>T" "r.311a>u" "p.Glu104Val" "" "0000826912" "00021597" "90" "311" "0" "311" "0" "c.311A>T" "r.(311a>u)" "p.(Glu104Val)" "" "0000826914" "00021597" "90" "311" "0" "311" "0" "c.311A>T" "r.(311a>u)" "p.(Glu104Val)" "" "0000826916" "00021597" "90" "311" "0" "311" "0" "c.311A>T" "r.(311a>u)" "p.(Glu104Val)" "" "0000826919" "00021597" "90" "311" "0" "311" "0" "c.311A>T" "r.(311a>u)" "p.(Glu104Val)" "" "0000826921" "00021597" "90" "311" "0" "311" "0" "c.311A>T" "r.(311a>u)" "p.(Glu104Val)" "" "0000826923" "00021597" "90" "311" "0" "311" "0" "c.311A>T" "r.(311a>u)" "p.(Glu104Val)" "" "0000826925" "00021597" "90" "311" "0" "311" "0" "c.311A>T" "r.(311a>u)" "p.(Glu104Val)" "" "0000826927" "00021597" "90" "311" "0" "311" "0" "c.311A>T" "r.(311a>u)" "p.(Glu104Val)" "" "0000827012" "00021597" "90" "607" "0" "610" "0" "c.607_610delinsTAGTGCTGT" "r.607_610delinsuagugcugu" "p.Leu203Ter" "" "0000827013" "00021597" "90" "607" "0" "610" "0" "c.607_610delinsTAGTGCTGT" "r.(607_610delinsuagugcugu)" "p.(Leu203Ter)" "" "0000827014" "00021597" "90" "607" "0" "610" "0" "c.607_610delinsTAGTGCTGT" "r.(607_610delinsuagugcugu)" "p.(Leu203Ter)" "" "0000827015" "00021597" "90" "607" "0" "610" "0" "c.607_610delinsTAGTGCTGT" "r.(607_610delinsuagugcugu)" "p.(Leu203Ter)" "" "0000827016" "00021597" "90" "607" "0" "610" "0" "c.607_610delinsTAGTGCTGT" "r.(607_610delinsuagugcugu)" "p.(Leu203Ter)" "" "0000827017" "00021597" "90" "607" "0" "610" "0" "c.607_610delinsTAGTGCTGT" "r.(607_610delinsuagugcugu)" "p.(Leu203Ter)" "" "0000827018" "00021597" "90" "607" "0" "610" "0" "c.607_610delinsTAGTGCTGT" "r.(607_610delinsuagugcugu)" "p.(Leu203Ter)" "" "0000827019" "00021597" "90" "607" "0" "610" "0" "c.607_610delinsTAGTGCTGT" "r.(607_610delinsuagugcugu)" "p.(Leu203Ter)" "" "0000827020" "00021597" "90" "607" "0" "610" "0" "c.607_610delinsTAGTGCTGT" "r.(607_610delinsuagugcugu)" "p.(Leu203Ter)" "" "0000842396" "00021597" "90" "129" "-1" "129" "-1" "c.129-1G>A" "r.spl" "p.?" "" "0000855696" "00021597" "90" "-2692" "0" "-2692" "0" "c.-2692A>C" "r.(?)" "p.(=)" "" "0000855697" "00021597" "30" "-2704" "0" "-2704" "0" "c.-2704A>G" "r.(?)" "p.(=)" "" "0000855698" "00021597" "70" "-4891" "0" "-4891" "0" "c.-4891A>G" "r.(?)" "p.(=)" "" "0000855699" "00021597" "10" "-4946" "0" "-4946" "0" "c.-4946C>A" "r.(?)" "p.(=)" "" "0000866271" "00021597" "30" "-4935" "0" "-4935" "0" "c.-4935G>T" "r.(?)" "p.(=)" "" "0000895129" "00021597" "50" "-2736" "0" "-2736" "0" "c.-2736C>A" "r.(?)" "p.(=)" "" "0000895130" "00021597" "50" "-4877" "0" "-4874" "0" "c.-4877_-4874del" "r.(?)" "p.(=)" "" "0000895131" "00021597" "50" "-4939" "0" "-4939" "0" "c.-4939A>C" "r.(?)" "p.(=)" "" "0000895132" "00021597" "90" "-4945" "0" "-4945" "0" "c.-4945G>C" "r.(?)" "p.(=)" "" "0000895133" "00021597" "90" "-4960" "0" "-4960" "0" "c.-4960C>T" "r.(?)" "p.(=)" "" "0000926942" "00021597" "70" "-4891" "0" "-4891" "0" "c.-4891A>G" "r.(?)" "p.(=)" "" "0000926943" "00021597" "50" "-4939" "0" "-4939" "0" "c.-4939A>C" "r.(?)" "p.(=)" "" "0000931104" "00021597" "10" "-2712" "0" "-2712" "0" "c.-2712G>A" "r.(?)" "p.(=)" "" "0000931105" "00021597" "90" "-2761" "0" "-2761" "0" "c.-2761G>A" "r.(?)" "p.(=)" "" "0000931106" "00021597" "70" "-4881" "0" "-4881" "0" "c.-4881G>C" "r.(?)" "p.(=)" "" "0000931107" "00021597" "90" "-4898" "0" "-4896" "0" "c.-4898_-4896del" "r.(?)" "p.(=)" "" "0000946039" "00021597" "90" "591" "0" "591" "0" "c.591C>A" "r.(?)" "p.(Tyr197Ter)" "" "0000951360" "00021597" "90" "-4933" "0" "-4933" "0" "c.-4933C>T" "r.(?)" "p.(=)" "" "0000951361" "00021597" "90" "-5008" "0" "-5008" "0" "c.-5008G>A" "r.(?)" "p.(=)" "" "0000951362" "00021597" "10" "-5073" "0" "-5073" "0" "c.-5073C>T" "r.(?)" "p.(=)" "" "0000969994" "00021597" "30" "-5072" "0" "-5072" "0" "c.-5072C>G" "r.(?)" "p.(=)" "" "0000983655" "00021597" "50" "-2677" "0" "-2677" "0" "c.-2677del" "r.(?)" "p.(=)" "" "0000983656" "00021597" "90" "-2744" "0" "-2744" "0" "c.-2744C>T" "r.(?)" "p.(=)" "" "0000983657" "00021597" "90" "-4921" "0" "-4921" "0" "c.-4921G>A" "r.(?)" "p.(=)" "" "0001015832" "00021597" "50" "-2769" "0" "-2769" "0" "c.-2769G>A" "r.(?)" "p.(=)" "" "0001027268" "00021597" "70" "-2763" "0" "-2763" "0" "c.-2763C>G" "r.(?)" "p.(=)" "" "0001043178" "00021597" "50" "610" "0" "610" "0" "c.610C>T" "r.(?)" "p.(Arg204Trp)" "" "0001043179" "00021597" "70" "-2763" "0" "-2763" "0" "c.-2763C>G" "r.(?)" "p.(=)" "" "0001043180" "00021597" "70" "-5023" "0" "-5023" "0" "c.-5023G>A" "r.(?)" "p.(=)" "" "0001056803" "00021597" "50" "580" "0" "580" "0" "c.580G>A" "r.(?)" "p.(Asp194Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 44 "{{screeningid}}" "{{variantid}}" "0000037320" "0000064445" "0000037321" "0000064446" "0000037322" "0000064447" "0000037323" "0000064448" "0000037324" "0000064449" "0000155535" "0000355306" "0000155536" "0000355308" "0000155537" "0000355309" "0000155538" "0000355310" "0000155539" "0000355311" "0000155540" "0000355312" "0000375718" "0000787069" "0000375719" "0000787070" "0000378801" "0000791703" "0000378802" "0000791704" "0000395434" "0000826736" "0000395435" "0000826737" "0000395435" "0000826738" "0000395436" "0000826739" "0000395437" "0000826740" "0000395437" "0000826741" "0000395438" "0000826744" "0000395439" "0000826743" "0000395440" "0000826745" "0000395551" "0000826904" "0000395556" "0000826912" "0000395557" "0000826914" "0000395558" "0000826916" "0000395559" "0000826919" "0000395560" "0000826921" "0000395561" "0000826923" "0000395562" "0000826925" "0000395563" "0000826927" "0000395621" "0000827012" "0000395622" "0000827013" "0000395623" "0000827014" "0000395624" "0000827015" "0000395625" "0000827016" "0000395626" "0000827017" "0000395627" "0000827018" "0000395628" "0000827019" "0000395629" "0000827020" "0000406165" "0000842396" "0000444182" "0000946039"