### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TTC5) # 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}}" "TTC5" "tetratricopeptide repeat domain 5" "14" "q11.2" "unknown" "NC_000014.8" "UD_132319750850" "" "https://www.LOVD.nl/TTC5" "" "1" "19274" "91875" "619014" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/TTC5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-03-24 17:54:06" "00000" "2025-05-05 21:14:00" ## 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}}" "00022011" "TTC5" "tetratricopeptide repeat domain 5" "001" "NM_138376.2" "" "NP_612385.2" "" "" "" "-57" "1819" "1323" "20774153" "20757290" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{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" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00269109" "" "" "" "2" "" "03470" "{PMID:Rasheed 2021:32439809}" "4-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives" "M" "yes" "Turkey" "" "0" "" "" "Turkish" "CW07PatA" "00302603" "" "" "" "2" "" "00006" "{PMID:Rasheed 2021:32439809}" "4-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "yes" "Pakistan" "" "0" "" "" "" "RDHM-05PatA" "00302604" "" "" "" "1" "" "00006" "{PMID:Rasheed 2021:32439809}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Egypt" "" "0" "" "" "" "Fam5543" "00302605" "" "" "" "1" "" "00006" "{PMID:Rasheed 2021:32439809}" "6-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "Egypt" "" "0" "" "" "" "5377PatA" "00302606" "" "" "" "2" "" "00006" "{PMID:Rasheed 2021:32439809}" "4-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives" "F" "yes" "Egypt" "" "0" "" "" "" "6772PatA" "00359547" "" "" "00269109" "1" "" "03470" "{PMID:Rasheed 2021:32439809}" "brother" "M" "yes" "Turkey" "" "0" "" "" "Turkish" "CW07PatB" "00359548" "" "" "00302603" "1" "" "00006" "{PMID:Rasheed 2021:32439809}" "sister" "F" "yes" "Pakistan" "" "0" "" "" "" "RDHM-05PatB" "00359549" "" "" "" "1" "" "00006" "{PMID:Rasheed 2021:32439809}" "brother" "M" "yes" "Egypt" "" "0" "" "" "" "6772PatB" "00359550" "" "" "" "3" "" "00006" "{PMID:Hu 2019:29302074}, {PMID:Rasheed 2021:32439809}" "" "M" "" "" "" "0" "" "" "" "G0317PatIII1" "00359551" "" "" "00359550" "1" "" "00006" "{PMID:Hu 2019:29302074}, {PMID:Rasheed 2021:32439809}" "family, 2 affected (F, M)" "M" "" "" "" "0" "" "" "" "M920001317PatIII2" "00359552" "" "" "00359550" "1" "" "00006" "{PMID:Hu 2019:29302074}, {PMID:Rasheed 2021:32439809}" "" "F" "" "" "" "0" "" "" "" "M920001317PatIII3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00269109" "00198" "00302603" "00198" "00302604" "00198" "00302605" "00198" "00302606" "00198" "00359547" "00198" "00359548" "00198" "00359549" "00198" "00359550" "00198" "00359551" "00198" "00359552" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198 ## Count = 11 "{{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}}" "0000206958" "00198" "00269109" "03470" "Familial, autosomal recessive" "07y" "birth 35w (HP:0001622); autistic behaviours (HP:0000729), severe ID (HP:0010864), delayed motor milestones (HP:0002194), lack of speech (HP:0001344); muscular hypotonia (HP:0001252); MRI brain prominent anterior ventricle horns (HP:0002119), dilated paranasal sinus (HP:0000245), distended straight sinus, atrophy corpus callosum (HP:0007371), simplified gyral pattern (HP:0009879), gliosis (HP:0002171); acneiform lesions with dry skin (HP:0000958); minor dysmorphic features abnormal outer ear (HP:0000356), wide forehead (HP:0000337), flared eyebrows (HP:0011229), V-shaped, thin upper lip (HP:0000219)" "00y00m01d" "" "" "" "" "" "" "" "" "" "" "0000229687" "00198" "00302605" "00006" "Familial, autosomal recessive" "06y" "severe ID (HP:0010864), microcephaly (HP:0011451), hypotonia (HP:0001290), delayed motor milestones (HP:0001270), no speech (HP:0001344), mild kyphosis (HP:0002808), thin upper lip (HP:0000219), curly hair (HP:000212), high arched palate (HP:0002705); 2y-severe epilepsy resulting in roughly four tonic (HP:0010818) and two myoclonic (HP:0002123) seizures per day with cyanosis (HP:0000961) now controlled with antiepileptic medications; severe developmental brain abnormalities including abnormal gyri (HP:0009879), dilated lateral ventricles (HP:0002119), thin corpus callosum (HP:0002079), central atrophy (HP:0002506), cortical atrophy (HP:0002120)" "00y00m01d" "" "" "" "" "" "" "" "" "developmental delay" "" "0000254799" "00198" "00302603" "00006" "Familial, autosomal recessive" "08y" "birth 37w, BPD 8.8, weight 2.5kg; weight 21kg, present height (cm)cm; 12m-sit, 36m-stand; speech equals 2y3m, 24m-first words; moderate intellectual disability; MRI brain abnormal; cerebral atrophy; no enlarged lateral ventricles; no corpus callosum atrophy; no simplified gyral pattern; no hypotonia; low-set ears, thin upper lip; no microcephaly; no skin anomaly; paranasal sinus volume not increased; no autistic behaviour; aggression; undescended testes; no sleep disturbance; no scoliosis/kyphosis; no seizures" "00y00m01d" "" "" "" "" "" "" "" "" "" "" "0000254800" "00198" "00359547" "03470" "Familial, autosomal recessive" "05y" "birth 34w, weight 2.4kg; weight 16.1kg, height 115cm; >1y-sit, >2y-stand; no speech; autistic (HP:0000729), aggressive behavioural pattern (HP:0000718), moderate ID (HP:0002342), delayed motor milestones (HP:0001270), lack of speech (HP:0001344), muscular hypotonia (HP:0001252); severe brain abnormalities, enlarged paranasal (HP:00000245), distended straight sinus, cerebral atrophy (HP:0002059), simplified gyral pattern (HP:0009879), ventriculomegaly third and lateral ventricles (HP:0002119), atrophy corpus callosum (HP:0007371), prominent sylvian fissures (HP:0100952); acneiform lesions with dry skin (HP:0000958); minor dysmorphic features abnormal outer ear (HP:0000356), wide forehead (HP:0000337), flared eyebrows (HP:0011229), V-shaped, thin upper lip (HP:0000219), increased internipple distance (HP:0006610)" "00y00m01d" "" "" "" "" "" "" "" "" "" "" "0000254801" "00198" "00359548" "00006" "Familial, autosomal recessive" "03y" "birth 34w, BPD 8.5, weight 1.8kg; weight 10kg, height 106.68cm; 12m-stand; no speech; mild intellectual disability; no hypotonia; abnormal outer ear, wide forehead, flared eyebrows and thin upper lip (v-shaped); no microcephaly; hirsutism; no autistic behaviour; no aggression; no genitourinary abnormalities; no sleep disturbance; no scoliosis/kyphosis; no seizures" "00y00m01d" "" "" "" "" "" "" "" "" "" "" "0000254802" "00198" "00302606" "00006" "Familial, autosomal recessive" "12y" "birth 40w, now OFC 32cm, weight 3.1kg; weight 21kg, height 82cm; not sitting, not standing; speech two words till now, 54m-first words; moderate intellectual disability; MRI brain abnormal; cerebral atrophy; enlarged lateral ventricles; corpus callosum atrophy; simplified gyral pattern; hypotonia; long face, brachycephaly, low anterior hair line, fuzzy hair, mild sagging eyelid, prominent nose and nasal tip, v-shaped upper lip, short philtrum, low set protruding ears; microcephaly; wide internipple distance; no skin anomaly; paranasal sinus volume not increased; no autistic behaviour; no aggression; no genitourinary abnormalities; no sleep disturbance; no scoliosis/kyphosis; no seizures" "00y00m01d" "" "" "" "" "" "" "" "" "" "" "0000254803" "00198" "00359549" "00006" "Familial, autosomal recessive" "05y" "birth 38w, now OFC 31cm, weight 3kg; weight 10kg, height 120cm; not sitting, not standing; no speech yet; severe intellectual disability; MRI brain abnormal; cerebral atrophy; enlarged lateral ventricles; corpus callosum atrophy; simplified gyral pattern; enlarged third ventricle; hypotonia; no facial dysmorphism; microcephaly; wide internipple distance; woolly scalp hair; paranasal sinus volume not increased; no autistic behaviour; no aggression; no genitourinary abnormalities; no sleep disturbance; no scoliosis/kyphosis; no seizures" "00y00m01d" "" "" "" "" "" "" "" "" "" "" "0000254804" "00198" "00302604" "00006" "Familial, autosomal recessive" "05y" "birth 39w, HC 32cm, weight 2.75kg; weight 6.8kg, height 110cm; not sitting, not standing; no speech; severe intellectual disability; MRI brain abnormal; cerebral atrophy; enlarged lateral ventricles; corpus callosum atrophy; simplified gyral pattern; hypotonia; thin upper lip, high arched palate; no microcephaly; normal internipple distance; no skin anomaly; paranasal sinus volume not increased; no autistic behaviour; no aggression; no genitourinary abnormalities; sleep disturbance; no scoliosis/kyphosis; no seizures" "00y00m01d" "" "" "" "" "" "" "" "" "" "" "0000254805" "00198" "00359550" "00006" "Familial, autosomal recessive" "7y" "birth 40w, OFC 48 cm, weight 3.54kg; weight 19kg, height 91cm; not standing; speech less than 10-targeted two-syllable; severe intellectual disability; hypotonia; microcephaly; no autistic behaviour; no seizures" "1d" "" "" "" "" "" "" "" "" "" "" "0000254806" "00198" "00359551" "00006" "Familial, autosomal recessive" "5y6m" "birth 38w, OFC 47 cm; height 112cm; not sitting, not standing; no speech; severe intellectual disability; leukoencephalopathy; microcephaly; no autistic behaviour; no seizures" "1d" "" "" "" "" "" "" "" "" "" "" "0000254807" "00198" "00359552" "00006" "Familial, autosomal recessive" "1y7m" "OFC 43 cm; height 94cm; not sitting, not standing; speech few single syllable words; MRI brain abnormal; enlarged lateral ventricles; corpus callosum atrophy; simplified gyral pattern; corpus callosum agenesis, supratentoria larea, mild leukodystrophic pattern; microcephaly; no autistic behaviour; no seizures" "1d" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000270238" "00269109" "1" "03470" "03470" "2019-11-05 07:30:05" "03470" "2019-11-06 06:32:43" "SEQ" "DNA" "Peripheral Blood" "WES and Sanger" "0000303726" "00302603" "1" "00006" "00006" "2020-05-26 13:38:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000303727" "00302604" "1" "00006" "00006" "2020-05-26 13:41:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000303728" "00302605" "1" "00006" "00006" "2020-05-26 13:44:01" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000303729" "00302606" "1" "00006" "00006" "2020-05-26 13:49:19" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000360776" "00359547" "1" "03470" "00006" "2021-03-25 09:15:03" "" "" "SEQ" "DNA" "Peripheral Blood" "WES and Sanger" "0000360777" "00359548" "1" "00006" "00006" "2021-03-25 09:30:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000360778" "00359549" "1" "00006" "00006" "2021-03-25 09:37:02" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000360779" "00359550" "1" "00006" "00006" "2021-03-25 10:04:28" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000360780" "00359551" "1" "00006" "00006" "2021-03-25 10:04:28" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000360781" "00359552" "1" "00006" "00006" "2021-03-25 10:04:28" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{geneid}}" "0000270238" "TTC5" "0000303726" "TTC5" "0000303727" "TTC5" "0000303728" "TTC5" "0000303729" "TTC5" "0000360776" "TTC5" "0000360777" "TTC5" "0000360778" "TTC5" "0000360779" "TTC5" "0000360780" "TTC5" "0000360781" "TTC5" ## 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 = 18 "{{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}}" "0000551460" "0" "50" "14" "20767565" "20767565" "subst" "4.06276E-6" "01943" "TTC5_000001" "g.20767565G>A" "" "" "" "TTC5(NM_138376.3):c.439C>T (p.R147C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20299406G>A" "" "VUS" "" "0000602976" "3" "70" "14" "20760162" "20760162" "subst" "1.70201E-5" "03470" "TTC5_000002" "g.20760162G>A" "" "{PMID:Rasheed 2021:32439809}" "" "" "" "Germline" "yes" "" "0" "" "" "g.20292003G>A" "" "likely pathogenic (recessive)" "" "0000614758" "0" "50" "14" "20757862" "20757862" "subst" "0" "01804" "TTC5_000004" "g.20757862A>G" "" "" "" "TTC5(NM_138376.2):c.1247T>C (p.(Leu416Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20289703A>G" "" "VUS" "" "0000667112" "3" "70" "14" "20766966" "20766966" "subst" "0" "00006" "TTC5_000003" "g.20766966T>C" "" "{PMID:Rasheed 2021:32439809}" "" "" "" "Germline" "yes" "" "0" "" "" "g.20298807T>C" "" "likely pathogenic (recessive)" "" "0000667113" "3" "70" "14" "20763923" "20763923" "subst" "4.06382E-6" "00006" "TTC5_000005" "g.20763923G>A" "" "{PMID:Rasheed 2021:32439809}" "" "" "" "Germline" "" "" "0" "" "" "g.20295764G>A" "" "likely pathogenic (recessive)" "" "0000667114" "3" "70" "14" "20763923" "20763923" "subst" "4.06382E-6" "00006" "TTC5_000005" "g.20763923G>A" "" "{PMID:Rasheed 2021:32439809}" "" "" "" "Germline" "" "" "0" "" "" "g.20295764G>A" "" "likely pathogenic (recessive)" "" "0000667115" "3" "70" "14" "20764553" "20764553" "subst" "4.06184E-6" "00006" "TTC5_000006" "g.20764553G>A" "" "{PMID:Rasheed 2021:32439809}" "" "" "" "Germline" "yes" "" "0" "" "" "g.20296394G>A" "" "likely pathogenic (recessive)" "" "0000760882" "3" "70" "14" "20760162" "20760162" "subst" "1.70201E-5" "03470" "TTC5_000002" "g.20760162G>A" "" "{PMID:Rasheed 2021:32439809}" "" "" "" "Germline" "yes" "" "0" "" "" "g.20292003G>A" "" "likely pathogenic (recessive)" "" "0000760883" "3" "70" "14" "20766966" "20766966" "subst" "0" "00006" "TTC5_000003" "g.20766966T>C" "" "{PMID:Rasheed 2021:32439809}" "" "" "" "Germline" "yes" "" "0" "" "" "g.20298807T>C" "" "likely pathogenic (recessive)" "" "0000760884" "3" "70" "14" "20764553" "20764553" "subst" "4.06184E-6" "00006" "TTC5_000006" "g.20764553G>A" "" "{PMID:Rasheed 2021:32439809}" "" "" "" "Germline" "yes" "" "0" "" "" "g.20296394G>A" "" "likely pathogenic (recessive)" "" "0000760886" "3" "70" "14" "20764553" "20764553" "subst" "4.06184E-6" "00006" "TTC5_000006" "g.20764553G>A" "" "{PMID:Rasheed 2021:32439809}" "" "" "" "Germline" "yes" "" "0" "" "" "g.20296394G>A" "" "likely pathogenic (recessive)" "" "0000760887" "3" "90" "14" "20766998" "20766998" "del" "0" "00006" "TTC5_000008" "g.20766998del" "" "{PMID:Hu 2019:29302074}, {PMID:Rasheed 2021:32439809}" "" "599delC" "" "Germline" "" "" "0" "" "" "g.20298839del" "" "pathogenic (recessive)" "" "0000760888" "3" "90" "14" "20774045" "20774045" "subst" "0" "00006" "TTC5_000007" "g.20774045C>T" "" "{PMID:Hu 2019:29302074}, {PMID:Rasheed 2021:32439809}" "" "" "" "Germline" "yes" "" "0" "" "" "g.20305886C>T" "" "pathogenic (recessive)" "" "0000760889" "3" "90" "14" "20774045" "20774045" "subst" "0" "00006" "TTC5_000007" "g.20774045C>T" "" "{PMID:Hu 2019:29302074}, {PMID:Rasheed 2021:32439809}" "" "" "" "Germline" "yes" "" "0" "" "" "g.20305886C>T" "" "pathogenic (recessive)" "" "0000980801" "0" "50" "14" "20763965" "20763965" "subst" "0.000277157" "01804" "TTC5_000009" "g.20763965G>A" "" "" "" "TTC5(NM_138376.3):c.745C>T (p.(Arg249Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039848" "0" "50" "14" "20760261" "20760261" "del" "0" "01804" "TTC5_000010" "g.20760261del" "" "" "" "TTC5(NM_138376.3):c.1085del (p.(Gly362Aspfs*6))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039849" "0" "50" "14" "20770037" "20770037" "subst" "6.49757E-5" "01804" "TTC5_000011" "g.20770037G>A" "" "" "" "TTC5(NM_138376.3):c.139C>T (p.(Gln47*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039850" "0" "30" "14" "20770132" "20770132" "subst" "8.12764E-5" "01804" "TTC5_000012" "g.20770132G>A" "" "" "" "TTC5(NM_138376.3):c.52-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 TTC5 ## Count = 18 "{{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}}" "0000551460" "00022011" "50" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Arg147Cys)" "" "0000602976" "00022011" "70" "1183" "0" "1183" "0" "c.1183C>T" "r.(?)" "p.(Arg395*)" "" "0000614758" "00022011" "50" "1247" "0" "1247" "0" "c.1247T>C" "r.(?)" "p.(Leu416Pro)" "" "0000667112" "00022011" "70" "629" "0" "629" "0" "c.629A>G" "r.(?)" "p.(Tyr210Cys)" "" "0000667113" "00022011" "70" "787" "0" "787" "0" "c.787C>T" "r.(?)" "p.(Arg263*)" "" "0000667114" "00022011" "70" "787" "0" "787" "0" "c.787C>T" "r.(?)" "p.(Arg263*)" "" "0000667115" "00022011" "70" "692" "0" "692" "0" "c.692C>T" "r.(?)" "p.(Ala231Val)" "" "0000760882" "00022011" "70" "1183" "0" "1183" "0" "c.1183C>T" "r.(?)" "p.(Arg395*)" "" "0000760883" "00022011" "70" "629" "0" "629" "0" "c.629A>G" "r.(?)" "p.(Tyr210Cys)" "" "0000760884" "00022011" "70" "692" "0" "692" "0" "c.692C>T" "r.(?)" "p.(Ala231Val)" "" "0000760886" "00022011" "70" "692" "0" "692" "0" "c.692C>T" "r.(?)" "p.(Ala231Val)" "" "0000760887" "00022011" "90" "599" "0" "599" "0" "c.599del" "r.(?)" "p.(Pro200Leufs*29)" "" "0000760888" "00022011" "90" "51" "1" "51" "1" "c.51+1G>A" "r.spl" "p.?" "" "0000760889" "00022011" "90" "51" "1" "51" "1" "c.51+1G>A" "r.spl" "p.?" "" "0000980801" "00022011" "50" "745" "0" "745" "0" "c.745C>T" "r.(?)" "p.(Arg249Trp)" "" "0001039848" "00022011" "50" "1085" "0" "1085" "0" "c.1085del" "r.(?)" "p.(Gly362Aspfs*6)" "" "0001039849" "00022011" "50" "139" "0" "139" "0" "c.139C>T" "r.(?)" "p.(Gln47*)" "" "0001039850" "00022011" "30" "52" "-8" "52" "-8" "c.52-8C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000270238" "0000602976" "0000303726" "0000667112" "0000303727" "0000667113" "0000303728" "0000667114" "0000303729" "0000667115" "0000360776" "0000760882" "0000360777" "0000760883" "0000360778" "0000760886" "0000360779" "0000760887" "0000360780" "0000760888" "0000360781" "0000760889"