### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TUBB) # 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}}" "TUBB" "tubulin, beta class I" "6" "p21.33" "unknown" "NC_000006.11" "UD_136022749871" "" "https://www.LOVD.nl/TUBB" "" "1" "20778" "203068" "191130" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/TUBB_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-03-24 20:04:15" "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}}" "00022128" "TUBB" "tubulin, beta class I" "001" "NM_178014.2" "" "NP_821133.1" "" "" "" "-127" "2360" "1335" "30688157" "30693199" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "04081" "CDCBM6" "dysplasia ,cortical, complex, with other brain malformations, type 6 (CDCBM-6)" "AD" "615771" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04304" "MRMV" "mirror movements (MRMV)" "" "" "" "" "" "00006" "2015-07-19 11:49:15" "" "" "05171" "CSCSC1" "skin crease, circumferential, symmetric, congenital, type 1 (CSCSC-1, Kunze type)" "AD" "156610" "" "" "" "00006" "2016-05-27 22:39:01" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TUBB" "04081" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00072155" "" "" "" "1" "" "01604" "{PMID:Isrie 2015:26637975}, {DOI:Isrie 2015:10.1016/j.ajhg.2015.10.014}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "no" "Canada" ">15y" "0" "" "" "" "26637975-PatM3" "00072156" "" "" "" "1" "" "01604" "{PMID:Isrie 2015:26637975}, {DOI:Isrie 2015:10.1016/j.ajhg.2015.10.014}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "no" "Norway" ">05y06m" "0" "" "" "" "26637975-Pat11" "00072157" "" "" "" "1" "" "01604" "{PMID:Isrie 2015:26637975}, {DOI:Isrie 2015:10.1016/j.ajhg.2015.10.014}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "yes" "Turkey" ">00y18m" "0" "" "" "" "26637975-Pat15" "00294049" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294050" "" "" "" "165" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00390075" "" "" "" "3" "" "00006" "{PMID:Nissenkorn 2021:33413009}" "family, affected father/2 daughters" "F" "" "Israel" "" "0" "" "" "" "Fam2Pat5" "00390076" "" "" "00390075" "1" "" "00006" "{PMID:Nissenkorn 2021:33413009}" "father" "M" "" "Israel" "" "0" "" "" "" "Fam3Pat6" "00390077" "" "" "00390075" "1" "" "00006" "{PMID:Nissenkorn 2021:33413009}" "sister" "F" "" "Israel" "" "0" "" "" "" "Fam3Pat7" "00462296" "" "" "" "1" "" "00006" "{PMID:Boissel 2017:29261186}" "analysis 101 stillborn fetuses with severe prenatal anoalies" "" "" "Canada" "0d" "0" "" "" "" "CONGÉ-043" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00072155" "05171" "00072156" "05171" "00072157" "05171" "00294049" "00198" "00294050" "00198" "00390075" "04304" "00390076" "04304" "00390077" "04304" "00462296" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04081, 04304, 05171 ## Count = 7 "{{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}}" "0000051860" "05171" "00072155" "01604" "Isolated (sporadic)" "15y" "decreased head circumference present at birth (HP:0011451), reduced head circumference – current (HP:0000252), cleft palate (HP:0000175), creases limbs: fingers, neck, penis – improved at follow-up, but visible (HP:?), microphthalmia (HP:0000568), short palpebral fissures (HP:0012745), epicanthal folds (HP:0000286), flat supraorbital ridge (HP:0009891), low nasal bridge (HP:0005280), long philtrum (HP:0000343), small mouth (HP:0000160), small low-set posteriorly rotated malformed (HP:0000377) ears (HP:0000368) with thick overfolded helices (HP:0000396), brachycephaly (HP:0000248), wide-spaced nipples (HP:0006610), intellectual disability, mild (HP:0001256), normal brain imaging (HP:?)" "" "" "" "" "" "" "" "" "" "" "" "0000051862" "05171" "00072156" "01604" "Isolated (sporadic)" "05y06m" "no decreased head circumference present at birth (HP:0011451), reduced head circumference – current (HP:0000252), cleft palate (HP:0000175), creases limbs and neck; disappeared at age 4 years; still creases on wrists (HP:?), short palpebral fissures (HP:0012745), blepharophimosis (HP:0000581, broad nasal bridge (HP:0000431) with epicanthal folds (HP:0000286), flat face (HP:0012368), small mouth (HP:0000160), mild asymmetry in face and abdomen (HP:?), low-set dysmorphic and posteriorly rotated ears (HP:0000368), short neck (HP:0000470), long fingers (HP:0100807), intellectual disability, mild (HP:0001256) to intellectual disability, moderate (HP:0002342), normal brain imaging (HP:?), infantile hypotonia (HP:0008947)" "" "" "" "" "" "" "" "" "" "" "" "0000051863" "05171" "00072157" "01604" "Isolated (sporadic)" "00y18m" "reduced head circumference – current (HP:0000252), high palate (HP:0000218), no cleft palate (-HP:0000175), creases limbs (HP:?), elongated face (HP:0000300), flat face (HP:0012368), hypertelorism (HP:0000316), upslanting short palpebral fissures (HP:0000582), epicanthus (HP:0000286), periorbital fullness (HP:0000629), long eyelashes (HP:0000527), blepharophimosis (HP:0000581), broad nasal bridge (HP:0000431), depressed nasal bridge (HP:0005280), malformed ears (HP:0000377 ), lowset ears (HP:0000369), microstomia (HP:0000160), down-turned corners of the mouth (HP:0002714), wide-spaced nipples (HP:0006610), second and third toe syndactyly (HP:0004691), mild developmental delay (HP:0011342), particularly speech delay (HP:0000750), hypoplasia of corpus callosum (HP:0002079), Dandy-Walker malformation (HP:0001305)" "" "" "" "" "" "" "" "" "" "" "" "0000283613" "04304" "00390075" "00006" "Familial, autosomal dominant" "9m" "dysplastic corpus callosum, asymmetric ventriculomegaly; mild gross motor delay; regular education; OFC -1 SD; no epilepsy; no cerebellar signs; no dystonia" "" "" "" "" "" "" "" "" "" "congenital mirror movement" "" "0000283614" "04304" "00390076" "00006" "Familial, autosomal dominant" "37y" "ventriculomegaly, disorganized vermian and cerebellar hemisphere foliation, asymmetric brain stem; no developmental delay; college graduate; epilepsy; mild gait ataxia on tandem, horizontal nystagmus; no dystonia" "" "" "" "" "" "" "" "" "" "congenital mirror movement" "" "0000283615" "04304" "00390077" "00006" "Familial, autosomal dominant" "10y" "hypoplastic corpus callosum, asymmetric ventriculomegaly, dysgyria and polymicrogyria, dysmorphic basal ganglia, hypoplastic disorganized vermis, hypoplastic asymmetric brain stem; no developmental delay; regular school; OFC -2 SD; no epilepsy; mild terminal kinetic tremor bilaterally; no dystonia" "" "" "" "" "" "" "" "" "" "congenital mirror movement" "" "0000349795" "00198" "00462296" "00006" "Isolated (sporadic)" "" "27gw-microlissencephaly, agenesis of the corpus callosum, pontocerebellar hypoplasia, circumferential skin folds" "" "" "" "" "" "" "" "" "" "cerebral anomalies" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000072308" "00072155" "1" "01604" "01604" "2016-05-30 11:20:32" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000072309" "00072156" "1" "01604" "01604" "2016-05-30 11:28:13" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000072311" "00072157" "1" "01604" "01604" "2016-05-30 11:30:34" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000295217" "00294049" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295218" "00294050" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000391316" "00390075" "1" "00006" "00006" "2021-11-09 17:45:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000391317" "00390076" "1" "00006" "00006" "2021-11-09 17:45:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000391318" "00390077" "1" "00006" "00006" "2021-11-09 17:45:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000463928" "00462296" "1" "00006" "00006" "2025-02-09 09:45:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000072308" "TUBB" "0000072309" "TUBB" "0000072311" "TUBB" ## 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 = 27 "{{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}}" "0000115849" "1" "90" "6" "30688326" "30688326" "subst" "0" "01604" "TUBB_000001" "g.30688326C>A" "" "{PMID:Isrie 2015:26637975}, {DOI:Isrie 2015:10.1016/j.ajhg.2015.10.014}, {OMIM191130:0004}" "" "" "" "De novo" "-" "rs864321676" "0" "" "" "g.30720549C>A" "" "pathogenic" "" "0000115850" "1" "90" "6" "30688326" "30688326" "subst" "0" "01604" "TUBB_000001" "g.30688326C>A" "" "{PMID:Isrie 2015:26637975}, {DOI:Isrie 2015:10.1016/j.ajhg.2015.10.014}, {OMIM191130:0004}" "" "" "" "De novo" "-" "rs864321676" "0" "" "" "g.30720549C>A" "" "pathogenic" "" "0000115853" "1" "90" "6" "30691504" "30691504" "subst" "0" "01604" "TUBB_000002" "g.30691504A>T" "" "{PMID:Isrie 2015:26637975}, {DOI:Isrie 2015:10.1016/j.ajhg.2015.10.014}, {OMIM191130:0005}" "" "" "" "De novo" "-" "rs864321677" "0" "" "" "g.30723727A>T" "" "pathogenic" "" "0000319044" "0" "50" "6" "30691495" "30691495" "subst" "0" "01943" "TUBB_000003" "g.30691495C>T" "" "" "" "TUBB(NM_178014.3):c.656C>T (p.T219I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30723718C>T" "" "VUS" "" "0000319045" "0" "50" "6" "30691699" "30691699" "subst" "0" "01943" "TUBB_000004" "g.30691699C>G" "" "" "" "TUBB(NM_178014.3):c.860C>G (p.P287R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30723922C>G" "" "VUS" "" "0000528209" "0" "30" "6" "30690427" "30690427" "subst" "0" "01804" "MDC1_000008" "g.30690427G>A" "" "" "" "TUBB(NM_178014.2):c.166+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30722650G>A" "" "likely benign" "" "0000528210" "0" "70" "6" "30690736" "30690736" "subst" "0" "02327" "FLOT1_000002" "g.30690736C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30722959C>T" "" "likely pathogenic" "" "0000528211" "0" "70" "6" "30691200" "30691200" "subst" "0" "01804" "FLOT1_000003" "g.30691200C>T" "" "" "" "TUBB(NM_178014.2):c.361C>T (p.(Arg121Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30723423C>T" "" "likely pathogenic" "" "0000651906" "1" "10" "6" "30690816" "30690816" "subst" "0.00944875" "03575" "TUBB_000005" "g.30690816C>T" "10/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "10 heterozygous, no homozygous; {DB:CLININrs25526}" "Germline" "" "rs25526" "0" "" "" "g.30723039C>T" "" "benign" "" "0000651907" "1" "10" "6" "30691490" "30691490" "subst" "0.0237575" "03575" "TUBB_000006" "g.30691490G>A" "165/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "165 heterozygous, no homozygous; {DB:CLININrs25497}" "Germline" "" "rs25497" "0" "" "" "g.30723713G>A" "" "benign" "" "0000677714" "0" "30" "6" "30689727" "30689727" "subst" "0" "01943" "MDC1_000009" "g.30689727A>G" "" "" "" "TUBB(NM_001293212.1):c.72A>G (p.Q24=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677715" "0" "90" "6" "30690317" "30690317" "subst" "0" "02327" "MDC1_000010" "g.30690317T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000720821" "0" "70" "6" "30691734" "30691734" "subst" "0" "02327" "FLOT1_000006" "g.30691734A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000720822" "0" "50" "6" "30692039" "30692039" "subst" "0.000940623" "01943" "FLOT1_000007" "g.30692039C>T" "" "" "" "TUBB(NM_001293212.1):c.1260C>T (p.G420=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000821064" "11" "90" "6" "30691200" "30691200" "subst" "0" "00006" "FLOT1_000003" "g.30691200C>T" "" "{PMID:Nissenkorn 2021:33413009}" "" "" "" "Germline" "yes" "" "0" "" "" "g.30723423C>T" "" "pathogenic (dominant)" "" "0000821065" "0" "90" "6" "30691200" "30691200" "subst" "0" "00006" "FLOT1_000003" "g.30691200C>T" "" "{PMID:Nissenkorn 2021:33413009}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.30723423C>T" "" "pathogenic (dominant)" "" "0000821066" "11" "90" "6" "30691200" "30691200" "subst" "0" "00006" "FLOT1_000003" "g.30691200C>T" "" "{PMID:Nissenkorn 2021:33413009}" "" "" "" "Germline" "yes" "" "0" "" "" "g.30723423C>T" "" "pathogenic (dominant)" "" "0000851158" "0" "70" "6" "30690347" "30690347" "subst" "0" "02327" "MDC1_000018" "g.30690347G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000851159" "0" "70" "6" "30691708" "30691708" "subst" "0" "02327" "FLOT1_000009" "g.30691708C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000860279" "0" "50" "6" "30691225" "30691225" "subst" "0" "01804" "FLOT1_000008" "g.30691225G>A" "" "" "" "TUBB(NM_178014.2):c.386G>A (p.(Cys129Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000905499" "0" "50" "6" "30691764" "30691764" "subst" "0" "03779" "TUBB_000007" "g.30691764C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000977148" "0" "50" "6" "30689738" "30689738" "subst" "0" "01804" "MDC1_000019" "g.30689738C>T" "" "" "" "TUBB(NM_001293212.2):c.83C>T (p.(Thr28Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977149" "0" "50" "6" "30691204" "30691204" "subst" "0" "01804" "FLOT1_000010" "g.30691204A>C" "" "" "" "TUBB(NM_178014.4):c.365A>C (p.(Lys122Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977150" "0" "50" "6" "30692141" "30692141" "subst" "8.16073E-6" "01804" "FLOT1_000011" "g.30692141G>T" "" "" "" "TUBB(NM_178014.4):c.1302G>T (p.(Glu434Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995638" "0" "30" "6" "30691729" "30691729" "subst" "0" "01804" "FLOT1_000012" "g.30691729A>C" "" "" "" "TUBB(NM_178014.2):c.890A>C (p.(Lys297Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027548" "0" "70" "6" "30691699" "30691699" "subst" "0" "00006" "TUBB_000008" "g.30691699C>T" "" "{PMID:Boissel 2017:29261186}" "" "NM_001293212.1:c.920C>T (P307L)" "" "De novo" "" "" "0" "" "" "g.30723922C>T" "" "likely pathogenic (dominant)" "" "0001035663" "0" "50" "6" "30692133" "30692133" "subst" "4.08133E-6" "01804" "FLOT1_000013" "g.30692133G>A" "" "" "" "TUBB(NM_178014.4):c.1294G>A (p.(Glu432Lys))" "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 TUBB ## Count = 27 "{{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}}" "0000115849" "00022128" "90" "43" "0" "43" "0" "c.43C>A" "r.(?)" "p.(Gln15Lys)" "1" "0000115850" "00022128" "90" "43" "0" "43" "0" "c.43C>A" "r.(?)" "p.(Gln15Lys)" "1" "0000115853" "00022128" "90" "665" "0" "665" "0" "c.665A>T" "r.(?)" "p.(Tyr222Phe)" "4" "0000319044" "00022128" "50" "656" "0" "656" "0" "c.656C>T" "r.(?)" "p.(Thr219Ile)" "" "0000319045" "00022128" "50" "860" "0" "860" "0" "c.860C>G" "r.(?)" "p.(Pro287Arg)" "" "0000528209" "00022128" "30" "166" "5" "166" "5" "c.166+5G>A" "r.spl?" "p.?" "" "0000528210" "00022128" "70" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Pro70Ser)" "" "0000528211" "00022128" "70" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Arg121Trp)" "" "0000651906" "00022128" "10" "277" "11" "277" "11" "c.277+11C>T" "r.(=)" "p.(=)" "" "0000651907" "00022128" "10" "651" "0" "651" "0" "c.651G>A" "r.(=)" "p.(=)" "" "0000677714" "00022128" "30" "58" "-587" "58" "-587" "c.58-587A>G" "r.(=)" "p.(=)" "" "0000677715" "00022128" "90" "61" "0" "61" "0" "c.61T>G" "r.(?)" "p.(Trp21Gly)" "" "0000720821" "00022128" "70" "895" "0" "895" "0" "c.895A>G" "r.(?)" "p.(Met299Val)" "" "0000720822" "00022128" "50" "1200" "0" "1200" "0" "c.1200C>T" "r.(?)" "p.(Gly400=)" "" "0000821064" "00022128" "90" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Arg121Trp)" "" "0000821065" "00022128" "90" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Arg121Trp)" "" "0000821066" "00022128" "90" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Arg121Trp)" "" "0000851158" "00022128" "70" "91" "0" "91" "0" "c.91G>A" "r.(?)" "p.(Asp31Asn)" "" "0000851159" "00022128" "70" "869" "0" "869" "0" "c.869C>T" "r.(?)" "p.(Thr290Ile)" "" "0000860279" "00022128" "50" "386" "0" "386" "0" "c.386G>A" "r.(?)" "p.(Cys129Tyr)" "" "0000905499" "00022128" "50" "925" "0" "925" "0" "c.925C>T" "r.(?)" "p.(Arg309Ter)" "" "0000977148" "00022128" "50" "58" "-576" "58" "-576" "c.58-576C>T" "r.(=)" "p.(=)" "" "0000977149" "00022128" "50" "365" "0" "365" "0" "c.365A>C" "r.(?)" "p.(Lys122Thr)" "" "0000977150" "00022128" "50" "1302" "0" "1302" "0" "c.1302G>T" "r.(?)" "p.(Glu434Asp)" "" "0000995638" "00022128" "30" "890" "0" "890" "0" "c.890A>C" "r.(?)" "p.(Lys297Thr)" "" "0001027548" "00022128" "70" "860" "0" "860" "0" "c.860C>T" "r.(?)" "p.(Pro287Leu)" "" "0001035663" "00022128" "50" "1294" "0" "1294" "0" "c.1294G>A" "r.(?)" "p.(Glu432Lys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000072308" "0000115849" "0000072309" "0000115850" "0000072311" "0000115853" "0000295217" "0000651906" "0000295218" "0000651907" "0000391316" "0000821064" "0000391317" "0000821065" "0000391318" "0000821066" "0000463928" "0001027548"