### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TTI1) # 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}}" "TTI1" "TELO2 interacting protein 1" "20" "q11.23" "unknown" "NC_000020.10" "UD_132463717629" "" "https://www.LOVD.nl/TTI1" "" "1" "29029" "9675" "614425" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-02-08 21:33:51" "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}}" "00025810" "TTI1" "transcript variant 2" "000" "NM_001303457.2" "" "NP_001290386.1" "" "" "" "-94" "3705" "3270" "36661858" "36611423" "00006" "2023-02-08 21:32:09" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{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" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TTI1" "05611" ## Individuals ## Do not remove or alter this header ## ## Count = 13 "{{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}}" "00150225" "" "" "" "1" "" "00006" "{PMID:Karaca 2015:26539891}" "" "" "" "" "" "0" "family structure in paper" "" "" "26539891-FamBAB4452" "00431335" "" "" "" "2" "" "00006" "{PMID:Serey-Gaut 2023:36724785}" "4-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives" "M" "yes" "Turkey" "" "0" "" "" "" "Fam1Pat1(IV2)" "00431336" "" "" "00431335" "1" "" "00006" "{PMID:Serey-Gaut 2023:36724785}" "brother" "M" "yes" "Turkey" "" "0" "" "" "" "Fam1Pat2(IV3)" "00431337" "" "" "" "1" "" "00006" "{PMID:Serey-Gaut 2023:36724785}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Argentina;Australia" "" "0" "" "" "" "Fam2Pat3(II1)" "00431338" "" "" "" "1" "" "00006" "{PMID:Serey-Gaut 2023:36724785}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "Fam3Pat4(II2)" "00431339" "" "" "" "1" "" "00006" "{PMID:Serey-Gaut 2023:36724785}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "" "" "0" "" "" "Europe" "Fam4Pat5(II3)" "00431340" "" "" "" "4" "" "00006" "{PMID:Serey-Gaut 2023:36724785}" "3-generation family, 4 affected 2F, 2M), unaffected heterozygous carrier parents/relatives" "F" "yes" "Turkey" "" "0" "" "" "" "Fam5Pat6(III5)" "00431341" "" "" "00431340" "1" "" "00006" "{PMID:Serey-Gaut 2023:36724785}" "brother" "M" "yes" "Turkey" "" "0" "" "" "" "Fam5Pat7(III6)" "00431342" "" "" "" "1" "" "00006" "{PMID:Serey-Gaut 2023:36724785}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "" "" "0" "" "" "Europe" "Fam6Pat8(II1)" "00431343" "" "" "" "1" "" "00006" "{PMID:Serey-Gaut 2023:36724785}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Mexico" "" "0" "" "" "" "Fam7Pat9(II2)" "00431344" "" "" "" "1" "" "00006" "{PMID:Serey-Gaut 2023:36724785}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "" "" "0" "" "" "Europe" "Fam8Pat10(II2)" "00431345" "" "" "" "1" "" "00006" "{PMID:Serey-Gaut 2023:36724785}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "" "" "0" "" "" "Africa-N" "Fam9Pat11(II1)" "00467795" "" "" "" "1" "" "00006" "{PMID:Charng 2016:27435318}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam058PatBAB6950" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 13 "{{individualid}}" "{{diseaseid}}" "00150225" "00198" "00431335" "05611" "00431336" "05611" "00431337" "05611" "00431338" "05611" "00431339" "05611" "00431340" "05611" "00431341" "05611" "00431342" "05611" "00431343" "05611" "00431344" "05611" "00431345" "05611" "00467795" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05611 ## Count = 13 "{{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/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000122627" "00198" "00150225" "00006" "Unknown" "" "intellectual diability, microcephaly" "" "" "" "" "" "" "" "" "" "" "0000321935" "05611" "00431335" "00006" "Familial, autosomal recessive" "20y11m" "see paper; ..., microcephaly; short stature; cervical hyperpigmentation, premature greying hair, acrocyanosis; moderate developmental delay; 14m-walk, instability in childhood; first words delayed, few sentences; school specialized structure; works in specialized structure; premature puberty; moderate intellectual disability; dysmorphism; no hypotonia; no spasticity/hypertonia; no movement disorder; mainly calm with rare aggressive outburst; no seizures; 2y-vesico-ureteral reflux surgery; kyphoscoliosis, genu varum; premature puberty, regressive bilateral gynecomastia; strabismus surgery at age 12" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000321936" "05611" "00431336" "00006" "Familial, autosomal recessive" "14y4m" "see paper; ..., OFC -1.5SD; short stature; moderate developmental delay; 6m-sit; 12m-walk, instability in childhood; first words delayed, few sentences; school specialized structure; mild intellectual disability; dysmorphism; no hypotonia; no spasticity/hypertonia; no movement disorder; normal behavior; no seizures; abdominal ultrasound ectopic right kidney; coxa vara, scoliosis; right cryptorchidism, mild regressive gynecomastia; no ophthalmic anomalies" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000321937" "05611" "00431337" "00006" "Familial, autosomal recessive" "7y9m" "see paper; ..., microcephaly; height -1SD; 4y-facial telangiectasia; moderate developmental delay; 10m-sit; 20m-walk; first words delayed, simple conversational speech; school specialized; moderate intellectual disability; no dysmorphism; infancy-hypotonia; no spasticity/hypertonia; hyperkinetic choreiform movements, ataxic gait; no seizures; normal reproductive organs; bilateral esotropia" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000321938" "05611" "00431338" "00006" "Familial, autosomal recessive" "10y9m" "see paper; ..., microcephaly; short stature; severe developmental delay; 8-9m-sit; 23-24m-walk; delayed speech; school special education; minimal autonomy; no signs of puberty; moderate/severe intellectual disability; dysmorphism; no hypotonia; no spasticity/hypertonia; choreo-athetoid movements in upper limbs, gait ataxia; poor concentration, excessive drooling, sleep problems; no seizures; MRI brain abnormal; abdominal ultrasound normal; no skeletal anomalies; normal reproductive organs; hypermetropia" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000321939" "05611" "00431339" "00006" "Familial, autosomal recessive" "13y9m" "see paper; ..., OFC 53 cm (-1.2SD); short stature; severe developmental delay; 10m-sit (with support); 3y10m-walk with assistance, no independent walking; non-verbal, 3 signs; school special education; no autonomous feeding, no autonomous locomotion; normal puberty; severe intellectual disability; dysmorphism; infancy-hypotonia; spasticity/hypertonia lower limbs; choreo-athetoid movements in upper limbs; sporadic spontaneous laughter; seizures; MRI brain abnormal; scoliosis, hip dysplasia, bilateral equinovalgus; normal reproductive organs; no ophthalmic anomalies" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000321940" "05611" "00431340" "00006" "Familial, autosomal recessive" "19y" "see paper; ..., microcephaly; short stature; severe developmental delay; 1y-sit; 5y-walk; 6y-first words, 19y-no sentences; school special education; primary puberty, secondary amenorrhea; severe intellectual disability; dysmorphism; no hypotonia; spasticity, hypertonia; waddling gait; self mutilation (biting, hitting head); no seizures; abdominal ultrasound normal; scoliosis, delayed bone age 8-9y; primary and secondary amenorrhea; strabismus" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000321941" "05611" "00431341" "00006" "Familial, autosomal recessive" "7y6m" "see paper; ..., microcephaly; short stature; severe developmental delay; 1y-sit; 5y-walk; 1.5y-first words, 7.5y-no sentences; school special education; prepubertal; severe intellectual disability; dysmorphism; no hypotonia; spasticity, hypertonia; waddling gait; no seizures; MRI brain abnormal; abdominal ultrasound normal; scoliosis; hypoplastic genitalia; strabismus" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000321942" "05611" "00431342" "00006" "Familial, autosomal recessive" "2y9m" "see paper; ..., microcephaly; short stature; severe developmental delay; 11m-sit; 2y2m-walk; 2.5y-first words (few words); school special education; minimal autonomy; prepubertal; nonspecific dysmorphism; hypotonia; truncal ataxia, gait ataxia, hypotonia; no seizures; MRI brain abnormal; no skeletal anomalies; normal reproductive organs; no ophthalmic anomalies" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000321943" "05611" "00431343" "00006" "Familial, autosomal recessive" "8y4m" "see paper; ..., microcephaly; short stature; moderate developmental delay; 7-8y-sit; not walking; non-verbal; school special education; no autonomy; 6y-precocious puberty; severe intellectual disability; dysmorphism; poor head control; spasticity/hypertonia lower extremities; choreo-athetoid movements in upper limbs; seizures; MRI brain abnormal; abdominal ultrasound multicystic atrophic right kidney, vesicoureteral reflux; advanced bone age; small labia minora, small clitoris; cortical visual impairment, nystagmus, myopia both eyes" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000321944" "05611" "00431344" "00006" "Familial, autosomal recessive" "10y" "see paper; ..., microcephaly; short stature; mild/moderate developmental delay; 9m-sit; 24m-walk; 20m-first words, language delay, speak short sentences; school special education; no signs of puberty; mild/moderate intellectual disability; mild dysmorphism; hypotonia; no spasticity/hypertonia; no movement disorder; aggressivity hyperactivity, impulsivity, separation anxiety; seizures; MRI brain abnormal; abdominal ultrasound normal; external tibial torsion, femoral retrotorsion; normal reproductive organs; strabismus (right esotropia), post surgical repair" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000321945" "05611" "00431345" "00006" "Familial, autosomal recessive" "3y7m" "see paper; ..., microcephaly; height -1SD; moderate developmental delay; 22m-walk; no speech; prepubertal; mild dysmorphism; no hypotonia; no spasticity/hypertonia; no movement disorder; aggressivity, stereotypy, sleeping disorder; 6m-febrile seizures; MRI brain normal; no skeletal anomalies; normal reproductive organs; no ophthalmic anomalies" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000352948" "05611" "00467795" "00006" "Familial, autosomal recessive" "" "developmental delay, infantile spasms, abnormal sulcation, abnormal gyration, cerebral atrophy, hypotonia, hypertelorism, short nose" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000151080" "00150225" "1" "00006" "00006" "2018-01-13 12:41:38" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000432748" "00431335" "1" "00006" "00006" "2023-02-09 10:08:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432749" "00431336" "1" "00006" "00006" "2023-02-09 10:08:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432750" "00431337" "1" "00006" "00006" "2023-02-09 10:08:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432751" "00431338" "1" "00006" "00006" "2023-02-09 10:08:23" "" "" "SEQ" "DNA" "" "" "0000432752" "00431339" "1" "00006" "00006" "2023-02-09 10:08:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432753" "00431340" "1" "00006" "00006" "2023-02-09 10:08:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432754" "00431341" "1" "00006" "00006" "2023-02-09 10:08:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432755" "00431342" "1" "00006" "00006" "2023-02-09 10:08:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432756" "00431343" "1" "00006" "00006" "2023-02-09 10:08:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432757" "00431344" "1" "00006" "00006" "2023-02-09 10:08:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000432758" "00431345" "1" "00006" "00006" "2023-02-09 10:08:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469461" "00467795" "1" "00006" "00006" "2025-10-30 10:25:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000151080" "TTI1" "0000432751" "TTI1" ## 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 = 31 "{{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}}" "0000244248" "3" "90" "20" "36627622" "36627622" "subst" "0" "00006" "TTI1_000001" "g.36627622C>T" "" "{PMID:Karaca 2015:26539891}" "" "NM_014657:G2761A (D921N)" "" "Germline" "" "" "0" "" "" "g.37999220C>T" "" "pathogenic" "" "0000895302" "0" "50" "20" "36641366" "36641366" "subst" "0.000557028" "02325" "TTI1_000005" "g.36641366C>T" "" "" "" "TTI1(NM_014657.3):c.853G>A (p.D285N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895303" "0" "50" "20" "36641735" "36641735" "subst" "0.0028012" "02325" "TTI1_000006" "g.36641735C>T" "" "" "" "TTI1(NM_001303457.2):c.484G>A (p.(Ala162Thr)), TTI1(NM_014657.3):c.484G>A (p.A162T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915367" "0" "50" "20" "36640975" "36640975" "subst" "0.00166237" "02325" "TTI1_000007" "g.36640975A>G" "" "" "" "TTI1(NM_014657.3):c.1244T>C (p.I415T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000918329" "3" "90" "20" "36639919" "36639919" "subst" "4.07674E-6" "00006" "TTI1_000014" "g.36639919A>G" "" "{PMID:Serey-Gaut 2023:36724785}" "" "" "" "Germline" "" "" "0" "" "" "g.38011517A>G" "" "pathogenic (recessive)" "" "0000918330" "3" "90" "20" "36639919" "36639919" "subst" "4.07674E-6" "00006" "TTI1_000014" "g.36639919A>G" "" "{PMID:Serey-Gaut 2023:36724785}" "" "" "" "Germline" "" "" "0" "" "" "g.38011517A>G" "" "pathogenic (recessive)" "" "0000918331" "11" "90" "20" "36639916" "36639916" "subst" "0" "00006" "TTI1_000013" "g.36639916C>A" "" "{PMID:Serey-Gaut 2023:36724785}" "" "" "" "Germline" "" "" "0" "" "" "g.38011514C>A" "" "pathogenic (recessive)" "" "0000918332" "21" "90" "20" "36641384" "36641384" "subst" "1.62652E-5" "00006" "TTI1_000019" "g.36641384A>C" "" "{PMID:Serey-Gaut 2023:36724785}" "" "" "" "Germline" "" "" "0" "" "" "g.38012982A>C" "" "pathogenic (recessive)" "" "0000918333" "11" "90" "20" "36625149" "36625149" "subst" "0" "00006" "TTI1_000009" "g.36625149A>G" "" "{PMID:Serey-Gaut 2023:36724785}" "" "" "" "Germline" "" "" "0" "" "" "g.37996747A>G" "" "pathogenic (recessive)" "" "0000918334" "3" "90" "20" "36627622" "36627622" "subst" "0" "00006" "TTI1_000001" "g.36627622C>T" "" "{PMID:Serey-Gaut 2023:36724785}" "" "" "" "Germline" "" "" "0" "" "" "g.37999220C>T" "" "pathogenic (recessive)" "" "0000918335" "3" "90" "20" "36627622" "36627622" "subst" "0" "00006" "TTI1_000001" "g.36627622C>T" "" "{PMID:Serey-Gaut 2023:36724785}" "" "" "" "Germline" "" "" "0" "" "" "g.37999220C>T" "" "pathogenic (recessive)" "" "0000918336" "11" "90" "20" "36640948" "36640948" "subst" "0" "00006" "TTI1_000017" "g.36640948T>C" "" "{PMID:Serey-Gaut 2023:36724785}" "" "" "" "Germline" "" "" "0" "" "" "g.38012546T>C" "" "pathogenic (recessive)" "" "0000918337" "11" "90" "20" "36641015" "36641015" "subst" "0" "00006" "TTI1_000018" "g.36641015A>G" "" "{PMID:Serey-Gaut 2023:36724785}" "" "" "" "Germline" "" "" "0" "" "" "g.38012613A>G" "" "pathogenic (recessive)" "" "0000918338" "11" "90" "20" "36611887" "36611887" "subst" "0" "00006" "TTI1_000008" "g.36611887C>T" "" "{PMID:Serey-Gaut 2023:36724785}" "" "" "" "Germline" "" "" "0" "" "" "g.37983485C>T" "" "pathogenic (recessive)" "" "0000918339" "21" "90" "20" "36640318" "36640318" "subst" "8.12203E-6" "00006" "TTI1_000015" "g.36640318A>G" "" "{PMID:Serey-Gaut 2023:36724785}" "" "" "" "Germline" "" "" "0" "" "" "g.38011916A>G" "" "pathogenic (recessive)" "" "0000918340" "21" "90" "20" "36641384" "36641384" "subst" "1.62652E-5" "00006" "TTI1_000019" "g.36641384A>C" "" "{PMID:Serey-Gaut 2023:36724785}" "" "" "" "Germline" "" "" "0" "" "" "g.38012982A>C" "" "pathogenic (recessive)" "" "0000918341" "11" "90" "20" "36625171" "36625171" "subst" "0" "00006" "TTI1_000011" "g.36625171A>C" "" "{PMID:Serey-Gaut 2023:36724785}" "" "" "" "Germline" "" "" "0" "" "" "g.37996769A>C" "" "pathogenic (recessive)" "" "0000918342" "21" "90" "20" "36631169" "36631169" "subst" "4.06088E-6" "00006" "TTI1_000012" "g.36631169G>A" "" "{PMID:Serey-Gaut 2023:36724785}" "" "" "" "Germline" "" "" "0" "" "" "g.38002767G>A" "" "pathogenic (recessive)" "" "0000918343" "21" "90" "20" "36641595" "36641595" "dup" "0" "00006" "TTI1_000020" "g.36641595dup" "" "{PMID:Serey-Gaut 2023:36724785}" "" "" "" "Germline" "" "" "0" "" "" "g.38013193dup" "" "pathogenic (recessive)" "" "0000918344" "21" "90" "20" "36625151" "36625151" "subst" "0" "00006" "TTI1_000010" "g.36625151C>G" "" "{PMID:Serey-Gaut 2023:36724785}" "" "" "" "Germline" "" "" "0" "" "" "g.37996749C>G" "" "pathogenic (recessive)" "" "0000918345" "21" "90" "20" "36642113" "36642113" "subst" "1.21883E-5" "00006" "TTI1_000021" "g.36642113G>A" "" "{PMID:Serey-Gaut 2023:36724785}" "" "" "" "Germline" "" "" "0" "" "" "g.38013711G>A" "" "pathogenic (recessive)" "" "0000918346" "11" "90" "20" "36640751" "36640751" "subst" "0" "00006" "TTI1_000016" "g.36640751G>A" "" "{PMID:Serey-Gaut 2023:36724785}" "" "" "" "Germline" "" "" "0" "" "" "g.38012349G>A" "" "pathogenic (recessive)" "" "0000926997" "0" "50" "20" "36640130" "36640130" "subst" "0.000223475" "02325" "TTI1_000022" "g.36640130A>G" "" "" "" "TTI1(NM_014657.3):c.2089T>C (p.Y697H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931166" "0" "50" "20" "36631038" "36631038" "subst" "2.8428E-5" "02325" "TTI1_000023" "g.36631038G>A" "" "" "" "TTI1(NM_014657.3):c.2644C>T (p.R882C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983794" "0" "50" "20" "36640223" "36640223" "subst" "1.62513E-5" "01804" "TTI1_000024" "g.36640223G>A" "" "" "" "TTI1(NM_001303457.2):c.1996C>T (p.(Leu666Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983795" "0" "30" "20" "36647562" "36647563" "del" "0" "01804" "TTI1_000025" "g.36647562_36647563del" "" "" "" "TTI1(NM_014657.3):c.-181-4_-181-3del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043338" "0" "30" "20" "36641735" "36641735" "subst" "0.0028012" "01804" "TTI1_000006" "g.36641735C>T" "" "" "" "TTI1(NM_001303457.2):c.484G>A (p.(Ala162Thr)), TTI1(NM_014657.3):c.484G>A (p.A162T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046773" "0" "50" "20" "36627603" "36627603" "subst" "0" "02325" "TTI1_000026" "g.36627603A>C" "" "" "" "TTI1(NM_014657.3):c.2780T>G (p.L927R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049776" "3" "50" "20" "36641471" "36641471" "subst" "0.000382282" "00006" "TTI1_000002" "g.36641471C>T" "" "{PMID:Charng 2016:27435318}" "" "" "ACMG PP3" "Germline" "" "" "0" "" "" "g.38013069C>T" "" "VUS" "" "0001056892" "0" "50" "20" "36625219" "36625219" "subst" "1.2187E-5" "01804" "TTI1_000027" "g.36625219G>A" "" "" "" "TTI1(NM_001303457.2):c.2930C>T (p.(Thr977Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056893" "0" "50" "20" "36625315" "36625315" "subst" "8.12698E-6" "01804" "TTI1_000028" "g.36625315C>T" "" "" "" "TTI1(NM_001303457.2):c.2834G>A (p.(Arg945His))" "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 TTI1 ## Count = 31 "{{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}}" "0000244248" "00025810" "90" "2761" "0" "2761" "0" "c.2761G>A" "r.(?)" "p.(Asp921Asn)" "" "0000895302" "00025810" "50" "853" "0" "853" "0" "c.853G>A" "r.(?)" "p.(Asp285Asn)" "" "0000895303" "00025810" "50" "484" "0" "484" "0" "c.484G>A" "r.(?)" "p.(Ala162Thr)" "" "0000915367" "00025810" "50" "1244" "0" "1244" "0" "c.1244T>C" "r.(?)" "p.(Ile415Thr)" "" "0000918329" "00025810" "90" "2300" "0" "2300" "0" "c.2300T>C" "r.(?)" "p.(Leu767Ser)" "" "0000918330" "00025810" "90" "2300" "0" "2300" "0" "c.2300T>C" "r.(?)" "p.(Leu767Ser)" "" "0000918331" "00025810" "90" "2302" "1" "2302" "1" "c.2302+1G>T" "r.spl" "p.?" "" "0000918332" "00025810" "90" "835" "0" "835" "0" "c.835T>G" "r.(?)" "p.(Trp279Gly)" "" "0000918333" "00025810" "90" "2998" "2" "2998" "2" "c.2998+2T>C" "r.spl" "p.?" "" "0000918334" "00025810" "90" "2761" "0" "2761" "0" "c.2761G>A" "r.(?)" "p.(Asp921Asn)" "" "0000918335" "00025810" "90" "2761" "0" "2761" "0" "c.2761G>A" "r.(?)" "p.(Asp921Asn)" "" "0000918336" "00025810" "90" "1271" "0" "1271" "0" "c.1271A>G" "r.(?)" "p.(His424Arg)" "" "0000918337" "00025810" "90" "1204" "0" "1204" "0" "c.1204T>C" "r.(?)" "p.(Ser402Pro)" "" "0000918338" "00025810" "90" "3241" "0" "3241" "0" "c.3241G>A" "r.(?)" "p.(Val1081Met)" "" "0000918339" "00025810" "90" "1901" "0" "1901" "0" "c.1901T>C" "r.(?)" "p.(Ile634Thr)" "" "0000918340" "00025810" "90" "835" "0" "835" "0" "c.835T>G" "r.(?)" "p.(Trp279Gly)" "" "0000918341" "00025810" "90" "2978" "0" "2978" "0" "c.2978T>G" "r.(?)" "p.(Leu993Arg)" "" "0000918342" "00025810" "90" "2513" "0" "2513" "0" "c.2513C>T" "r.(?)" "p.(Ser838Leu)" "" "0000918343" "00025810" "90" "629" "0" "629" "0" "c.629dup" "r.(?)" "p.(Leu210PhefsTer17)" "" "0000918344" "00025810" "90" "2998" "0" "2998" "0" "c.2998G>C" "r.(?)" "p.(Gly1000Arg)" "" "0000918345" "00025810" "90" "106" "0" "106" "0" "c.106C>T" "r.(?)" "p.(Arg36Ter)" "" "0000918346" "00025810" "90" "1468" "0" "1468" "0" "c.1468C>T" "r.(?)" "p.(Gln490Ter)" "" "0000926997" "00025810" "50" "2089" "0" "2089" "0" "c.2089T>C" "r.(?)" "p.(Tyr697His)" "" "0000931166" "00025810" "50" "2644" "0" "2644" "0" "c.2644C>T" "r.(?)" "p.(Arg882Cys)" "" "0000983794" "00025810" "50" "1996" "0" "1996" "0" "c.1996C>T" "r.(?)" "p.(Leu666Phe)" "" "0000983795" "00025810" "30" "-41" "-5291" "-41" "-5290" "c.-41-5291_-41-5290del" "r.(=)" "p.(=)" "" "0001043338" "00025810" "30" "484" "0" "484" "0" "c.484G>A" "r.(?)" "p.(Ala162Thr)" "" "0001046773" "00025810" "50" "2780" "0" "2780" "0" "c.2780T>G" "r.(?)" "p.(Leu927Arg)" "" "0001049776" "00025810" "50" "748" "0" "748" "0" "c.748G>A" "r.(?)" "p.(Glu250Lys)" "" "0001056892" "00025810" "50" "2930" "0" "2930" "0" "c.2930C>T" "r.(?)" "p.(Thr977Met)" "" "0001056893" "00025810" "50" "2834" "0" "2834" "0" "c.2834G>A" "r.(?)" "p.(Arg945His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{variantid}}" "0000151080" "0000244248" "0000432748" "0000918329" "0000432749" "0000918330" "0000432750" "0000918331" "0000432750" "0000918340" "0000432751" "0000918332" "0000432751" "0000918341" "0000432752" "0000918333" "0000432752" "0000918342" "0000432753" "0000918334" "0000432754" "0000918335" "0000432755" "0000918336" "0000432755" "0000918343" "0000432756" "0000918337" "0000432756" "0000918344" "0000432757" "0000918338" "0000432757" "0000918345" "0000432758" "0000918339" "0000432758" "0000918346" "0000469461" "0001049776"