### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TCTN1) # 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}}" "TCTN1" "tectonic family member 1" "12" "q24.11" "unknown" "NG_030381.1" "UD_133717189066" "" "http://www.LOVD.nl/TCTN1" "" "1" "26113" "79600" "609863" "1" "1" "1" "1" "The establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement nº 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/TCTN1_codingDNA.html" "1" "" "" "-1" "" "-1" "00008" "2012-05-16 00:00:00" "00006" "2016-01-28 13:48:00" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00000203" "TCTN1" "transcript variant 3" "002" "NM_024549.5" "" "NP_078825.2" "" "" "" "-156" "1811" "1722" "111051832" "111086935" "00006" "2012-05-17 10:32:45" "" "" "00025979" "TCTN1" "transcript variant 1" "003" "NM_001082538.2" "" "NP_001076007.1" "" "" "RefSeq select" "-156" "1868" "1779" "111051832" "111086935" "00006" "2025-02-09 09:24:33" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00002" "JBTS1" "Joubert syndrome, type 1 (JBTS1)" "AR" "213300" "" "" "" "00006" "2012-05-17 22:47:36" "00006" "2021-12-10 21:51:32" "00003" "JBTS13" "Joubert syndrome, type 13 (JBTS13)" "AR" "614173" "" "" "" "00006" "2012-05-17 22:48:47" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05109" "JBTS" "Joubert syndrome (JBTS)" "" "" "" "" "" "00006" "2016-01-09 00:37:44" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TCTN1" "00002" "TCTN1" "00003" ## Individuals ## Do not remove or alter this header ## ## Count = 18 "{{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}}" "00028922" "" "" "" "1" "" "01188" "{PMID:Kroes 2016:25920555}" "" "" "" "" "" "0" "" "" "Europe-N" "1-34 Pat11" "00028950" "" "" "" "1" "" "01188" "{PMID:Kroes 2016:25920555}" "" "" "" "" "" "0" "" "" "Europe-N" "1-48 Pat20" "00058534" "" "" "" "1" "" "00510" "" "" "F" "yes" "China" "" "0" "" "" "HAN" "" "00058535" "" "" "" "1" "" "00510" "" "" "M" "yes" "China" "" "0" "" "" "Han" "" "00290597" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290598" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290599" "" "" "" "228" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304329" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00363568" "" "" "" "1" "" "00000" "{PMID:Srour 2015:26477546}" "" "M" "" "Canada" "" "0" "" "" "French-Canadian" "FamHSJ-JBTS-clin2PatHSJ-JBTS-2" "00372316" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW270-3" "00372385" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "control" "" "" "" "" "0" "" "" "" "ND13333" "00373385" "" "" "" "1" "" "00000" "{PMID:Kroes 2016:25920555}" "" "" "" "" "" "0" "" "" "Europe-N" "1-56" "00379590" "" "" "" "2" "" "00000" "{PMID:alazami-2012:22693042}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00379591" "" "" "" "1" "" "00000" "{PMID:alazami-2012:22693042}" "" "M" "" "Saudi Arabia" "" "0" "" "" "" "" "00408804" "" "" "" "1" "" "00000" "{PMID:Alazami 2012:22693042}" "" "M" "yes" "" "" "0" "" "" "" "JS_F8-1" "00408805" "" "" "" "1" "" "00000" "{PMID:Alazami 2012:22693042}" "" "F" "yes" "" "" "0" "" "" "" "JS_F8-2" "00408806" "" "" "" "1" "" "00000" "{PMID:Alazami 2012:22693042}" "" "M" "yes" "" "" "0" "" "" "" "JS_F9" "00462302" "" "" "" "1" "" "00006" "{PMID:Boissel 2017:29261186}" "analysis 101 stillborn fetuses with severe prenatal anoalies" "" "" "Canada" "0d" "0" "" "" "" "051-115-RKOa" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 18 "{{individualid}}" "{{diseaseid}}" "00028922" "00002" "00028950" "00002" "00058534" "05109" "00058535" "05109" "00290597" "00198" "00290598" "00198" "00290599" "00198" "00304329" "00198" "00363568" "05109" "00372316" "05109" "00372385" "00000" "00373385" "04214" "00379590" "04214" "00379591" "04214" "00408804" "05109" "00408805" "05109" "00408806" "05109" "00462302" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00002, 00003, 00198, 04214, 05109 ## 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}}" "0000025018" "00002" "00028922" "01188" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025025" "00002" "00028950" "01188" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000258918" "05109" "00363568" "00000" "Familial, autosomal recessive" "6m" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267637" "05109" "00372316" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000268661" "04214" "00373385" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000273444" "04214" "00379590" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome (JS)" "" "0000273445" "04214" "00379591" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome (JS)" "" "0000300923" "05109" "00408804" "00000" "Familial, autosomal recessive" "" "prominent forehead, no hemifacial spasms, strabismus, impaired smooth pursuit, no oculomotor apraxia, upturned nose, anteverted nostrils, no hepatic fibrosis, no renal cysts, no polydactyly, delayed psychomotor development, intellectual disability, no ataxia, hypotonia, no occipital meningocele, typical magnetic resonance find" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000300924" "05109" "00408805" "00000" "Familial, autosomal recessive" "" "prominent forehead, no hemifacial spasms, strabismus, impaired smooth pursuit, no oculomotor apraxia, upturned nose, anteverted nostrils, no hepatic fibrosis, no renal cysts, no polydactyly, delayed psychomotor development, intellectual disability, no ataxia, hypotonia, no occipital meningocele, typical magnetic resonance find" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000300925" "05109" "00408806" "00000" "Familial, autosomal recessive" "" "prominent forehead, no hemifacial spasms, strabismus, impaired smooth pursuit, oculomotor apraxia, upturned nose, anteverted nostrils, no hepatic fibrosis, no renal cysts, no polydactyly, delayed psychomotor development, intellectual disability, ataxia, hypotonia, no occipital meningocele–; abnormal electroretino" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000349801" "00198" "00462302" "00006" "Familial, autosomal recessive" "" "27gw-postaxial polydactyly, vermian hypoplasia" "" "" "" "" "" "" "" "" "" "suspected ciliopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 18 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000028954" "00028922" "1" "01188" "01188" "2015-01-05 15:34:53" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000028984" "00028950" "1" "01188" "01188" "2015-01-06 09:12:10" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000058499" "00058534" "1" "00510" "00510" "2016-01-28 02:58:39" "00006" "2016-01-28 22:56:32" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "BLOOD" "" "0000058500" "00058535" "1" "00510" "00510" "2016-01-28 03:21:13" "00006" "2016-01-28 22:57:10" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "" "0000291765" "00290597" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291766" "00290598" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291767" "00290599" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305458" "00304329" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000364796" "00363568" "1" "00000" "00006" "2021-04-29 14:27:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000373545" "00372316" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373614" "00372385" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000374620" "00373385" "1" "00000" "00006" "2021-05-14 11:33:21" "" "" "SEQ-NG" "DNA" "" "22-gene panel" "0000380789" "00379590" "1" "00000" "00008" "2021-08-06 03:44:17" "" "" "PCR;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000380790" "00379591" "1" "00000" "00008" "2021-08-06 03:44:17" "" "" "PCR;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000410069" "00408804" "1" "00000" "03840" "2022-04-28 12:52:45" "" "" "SEQ-NG" "DNA" "blood" "exome sequencing" "0000410070" "00408805" "1" "00000" "03840" "2022-04-28 12:52:45" "" "" "SEQ-NG" "DNA" "blood" "exome sequencing" "0000410071" "00408806" "1" "00000" "03840" "2022-04-28 12:52:45" "" "" "SEQ-NG" "DNA" "blood" "exome sequencing" "0000463934" "00462302" "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 = 13 "{{screeningid}}" "{{geneid}}" "0000028954" "CC2D2A" "0000028984" "TMEM67" "0000058499" "TCTN1" "0000058500" "TCTN1" "0000364796" "TCTN1" "0000373545" "TCTN1" "0000373614" "TCTN1" "0000374620" "TCTN1" "0000380789" "TCTN1" "0000380790" "TCTN1" "0000410069" "TCTN1" "0000410070" "TCTN1" "0000410071" "TCTN1" ## 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 = 60 "{{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}}" "0000089079" "21" "90" "12" "111064159" "111064159" "subst" "0" "00510" "TCTN1_000001" "g.111064159A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.110626354A>G" "" "pathogenic" "" "0000089080" "11" "90" "12" "111085058" "111085058" "subst" "0" "00510" "TCTN1_000002" "g.111085058G>A" "" "" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.110647253G>A" "" "pathogenic" "" "0000254237" "0" "30" "12" "111066669" "111066669" "subst" "0.000117919" "01943" "TCTN1_000005" "g.111066669A>G" "" "" "" "TCTN1(NM_001082538.3):c.570A>G (p.E190=), TCTN1(NM_001319681.1):c.36A>G (p.E12=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110628864A>G" "" "likely benign" "" "0000314478" "0" "10" "12" "111085402" "111085402" "subst" "0" "02326" "TCTN1_000011" "g.111085402C>T" "" "" "" "TCTN1(NM_024549.6):c.1579-152C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110647597C>T" "" "benign" "" "0000314479" "0" "10" "12" "111057896" "111057896" "subst" "0" "02326" "TCTN1_000003" "g.111057896C>T" "" "" "" "TCTN1(NM_001082538.3):c.341+135C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110620091C>T" "" "benign" "" "0000314480" "0" "10" "12" "111066562" "111066562" "subst" "0.00869778" "02326" "TCTN1_000004" "g.111066562T>A" "" "" "" "TCTN1(NM_024549.6):c.473-10T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110628757T>A" "" "benign" "" "0000314481" "0" "10" "12" "111070354" "111070356" "del" "0" "02326" "TCTN1_000006" "g.111070354_111070356del" "" "" "" "TCTN1(NM_024549.6):c.702_704delTAA (p.N235del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110632549_110632551del" "" "benign" "" "0000314482" "0" "30" "12" "111070526" "111070526" "subst" "0" "02326" "TCTN1_000007" "g.111070526C>A" "" "" "" "TCTN1(NM_024549.6):c.712+162C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110632721C>A" "" "likely benign" "" "0000316384" "0" "50" "12" "111080154" "111080154" "subst" "0.000755361" "01943" "TCTN1_000010" "g.111080154G>C" "" "" "" "TCTN1(NM_001082538.2):c.1291G>C (p.V431L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110642349G>C" "" "VUS" "" "0000316385" "0" "30" "12" "111085541" "111085542" "del" "0" "01943" "TCTN1_000012" "g.111085541_111085542del" "" "" "" "TCTN1(NM_001082538.2):c.1636-13_1636-12delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110647736_110647737del" "" "likely benign" "" "0000316386" "0" "30" "12" "111072466" "111072466" "subst" "0.000112938" "01943" "TCTN1_000008" "g.111072466G>T" "" "" "" "TCTN1(NM_001082538.2):c.713-9G>T, TCTN1(NM_001319681.1):c.179-9G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110634661G>T" "" "likely benign" "" "0000316387" "0" "10" "12" "111078238" "111078238" "subst" "0.00501576" "01943" "TCTN1_000009" "g.111078238C>T" "" "" "" "TCTN1(NM_001082538.2):c.894C>T (p.L298=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110640433C>T" "" "benign" "" "0000341483" "0" "50" "12" "111085037" "111085037" "subst" "2.84338E-5" "02327" "TCTN1_000013" "g.111085037G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110647232G>A" "" "VUS" "" "0000546491" "0" "30" "12" "111052007" "111052007" "subst" "0" "01943" "TCTN1_000014" "g.111052007C>T" "" "" "" "TCTN1(NM_001082538.2):c.20C>T (p.P7L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110614202C>T" "" "likely benign" "" "0000546492" "0" "50" "12" "111052097" "111052097" "subst" "1.41163E-5" "01943" "TCTN1_000015" "g.111052097C>G" "" "" "" "TCTN1(NM_001082538.2):c.110C>G (p.S37C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110614292C>G" "" "VUS" "" "0000546493" "0" "10" "12" "111052219" "111052219" "subst" "0.00806537" "01943" "TCTN1_000016" "g.111052219G>C" "" "" "" "TCTN1(NM_001082538.2):c.220+12G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110614414G>C" "" "benign" "" "0000546494" "0" "30" "12" "111054146" "111054146" "subst" "0.000202146" "01943" "TCTN1_000017" "g.111054146T>C" "" "" "" "TCTN1(NM_001173976.1):c.29T>C (p.L10P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110616341T>C" "" "likely benign" "" "0000546495" "0" "30" "12" "111057771" "111057771" "subst" "5.27953E-5" "01943" "TCTN1_000018" "g.111057771C>T" "" "" "" "TCTN1(NM_001319681.1):c.-367+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110619966C>T" "" "likely benign" "" "0000546496" "0" "10" "12" "111066587" "111066587" "subst" "0.00244836" "02326" "TCTN1_000019" "g.111066587C>A" "" "" "" "TCTN1(NM_024549.6):c.488C>A (p.S163Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110628782C>A" "" "benign" "" "0000546498" "0" "30" "12" "111078304" "111078304" "subst" "0.000820311" "01943" "TCTN1_000020" "g.111078304C>T" "" "" "" "TCTN1(NM_001319681.1):c.426C>T (p.C142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110640499C>T" "" "likely benign" "" "0000546499" "0" "30" "12" "111078910" "111078910" "subst" "3.65539E-5" "01943" "TCTN1_000021" "g.111078910G>A" "" "" "" "TCTN1(NM_001319681.1):c.526G>A (p.V176I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110641105G>A" "" "likely benign" "" "0000546500" "0" "50" "12" "111082836" "111082836" "subst" "0.0214601" "01943" "TCTN1_000022" "g.111082836G>T" "" "" "" "TCTN1(NM_001082537.2):c.1396G>T (p.(Gly466Cys)), TCTN1(NM_001082538.2):c.1396G>T (p.G466C), TCTN1(NM_001082538.3):c.1396G>T (p.G466C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110645031G>T" "" "VUS" "" "0000546501" "0" "50" "12" "111082836" "111082836" "subst" "0.0214601" "01804" "TCTN1_000022" "g.111082836G>T" "" "" "" "TCTN1(NM_001082537.2):c.1396G>T (p.(Gly466Cys)), TCTN1(NM_001082538.2):c.1396G>T (p.G466C), TCTN1(NM_001082538.3):c.1396G>T (p.G466C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110645031G>T" "" "VUS" "" "0000546502" "0" "10" "12" "111082836" "111082836" "subst" "0.0214601" "02326" "TCTN1_000022" "g.111082836G>T" "" "" "" "TCTN1(NM_001082537.2):c.1396G>T (p.(Gly466Cys)), TCTN1(NM_001082538.2):c.1396G>T (p.G466C), TCTN1(NM_001082538.3):c.1396G>T (p.G466C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110645031G>T" "" "benign" "" "0000622782" "0" "30" "12" "111072248" "111072248" "subst" "0.0022967" "01943" "TCTN1_000024" "g.111072248G>A" "" "" "" "TCTN1(NM_024549.5):c.760G>A (p.E254K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110634443G>A" "" "likely benign" "" "0000648454" "1" "90" "12" "111064165" "111064165" "subst" "0" "03575" "TCTN1_000025" "g.111064165A>G" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs730882221}" "Germline" "" "rs730882221" "0" "" "" "g.110626360A>G" "" "pathogenic" "" "0000648455" "1" "30" "12" "111066587" "111066587" "subst" "0.00244836" "03575" "TCTN1_000019" "g.111066587C>A" "9/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "9 heterozygous, no homozygous; {DB:CLININrs117896500}" "Germline" "" "rs117896500" "0" "" "" "g.110628782C>A" "" "likely benign" "" "0000648456" "1" "30" "12" "111082836" "111082836" "subst" "0.0214601" "03575" "TCTN1_000022" "g.111082836G>T" "228/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "228 heterozygous; {DB:CLININrs118096349}" "Germline" "" "rs118096349" "0" "" "" "g.110645031G>T" "" "likely benign" "" "0000656981" "0" "50" "12" "111057742" "111057742" "subst" "0" "01804" "TCTN1_000026" "g.111057742T>C" "" "" "" "TCTN1(NM_001082537.2):c.322T>C (p.(Cys108Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110619937T>C" "" "VUS" "" "0000669146" "3" "30" "12" "111082836" "111082836" "subst" "0.0214601" "03575" "TCTN1_000022" "g.111082836G>T" "6/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 homozygous; {DB:CLININrs118096349}" "Germline" "" "rs118096349" "0" "" "" "g.110645031G>T" "" "likely benign" "" "0000679395" "0" "50" "12" "111080092" "111080092" "subst" "0" "01943" "TCTN1_000027" "g.111080092T>C" "" "" "" "TCTN1(NM_001319681.1):c.695T>C (p.L232P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691242" "0" "50" "12" "111078284" "111078284" "subst" "0.000186808" "01943" "TCTN1_000028" "g.111078284G>A" "" "" "" "TCTN1(NM_001319681.1):c.406G>A (p.A136T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000765703" "1" "90" "12" "111064165" "111064165" "subst" "0" "00000" "TCTN1_000029" "g.111064165A>C" "" "{PMID:Srour 2015:26477546}" "" "" "" "Germline" "" "" "0" "" "" "g.110626360A>C" "" "pathogenic (recessive)" "" "0000765739" "2" "90" "12" "111078242" "111078242" "subst" "4.06151E-6" "00000" "TCTN1_000030" "g.111078242C>T" "" "{PMID:Srour 2015:26477546}" "" "NM_001082538.2:c.898C>T (Arg300*)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000783525" "3" "90" "12" "111064165" "111064165" "subst" "0" "00000" "TCTN1_000025" "g.111064165A>G" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001082538.2:c.342-2A>G" "" "Germline" "" "" "0" "" "" "g.110626360A>G" "" "pathogenic" "" "0000783594" "1" "50" "12" "111072559" "111072559" "subst" "8.28459E-6" "00000" "TCTN1_000031" "g.111072559T>G" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001082538.2:c.797T>G" "" "Germline" "" "" "0" "" "" "g.110634754T>G" "" "VUS" "" "0000783765" "2" "50" "12" "111078889" "111078889" "subst" "1.21838E-5" "00000" "TCTN1_000032" "g.111078889G>A" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001082538.2:c.1039G>A" "" "Germline" "" "" "0" "" "" "g.110641084G>A" "" "VUS" "" "0000785421" "0" "50" "12" "111070354" "111070356" "del" "0" "00000" "TCTN1_000006" "g.111070354_111070356del" "" "{PMID:Kroes 2016:25920555}" "" "698delATA" "" "Germline" "" "" "0" "" "" "g.110632549_110632551del" "" "VUS" "" "0000785443" "0" "50" "12" "111057762" "111057762" "subst" "7.30988E-5" "00000" "TCTN1_000033" "g.111057762G>A" "" "{PMID:Kroes 2016:25920555}" "" "" "" "Germline" "" "" "0" "" "" "g.110619957G>A" "" "VUS" "" "0000785447" "0" "50" "12" "111085541" "111085542" "del" "0" "00000" "TCTN1_000012" "g.111085541_111085542del" "" "{PMID:Kroes 2016:25920555}" "" "1636-18delTC" "" "Germline" "" "" "0" "" "" "g.110647736_110647737del" "" "VUS" "" "0000793985" "0" "90" "12" "111064165" "111064165" "subst" "0" "00000" "TCTN1_000025" "g.111064165A>G" "" "{PMID:alazami-2012:22693042}" "" "c.342-2A>G" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000793986" "0" "90" "12" "111064165" "111064165" "subst" "0" "00000" "TCTN1_000025" "g.111064165A>G" "" "{PMID:alazami-2012:22693042}" "" "c.342-2A>G" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000805523" "0" "30" "12" "111057747" "111057747" "subst" "0.00122234" "02326" "TCTN1_000034" "g.111057747A>G" "" "" "" "TCTN1(NM_001082538.3):c.327A>G (p.S109=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805524" "0" "50" "12" "111082827" "111082827" "subst" "0.000511717" "01943" "TCTN1_000035" "g.111082827T>C" "" "" "" "TCTN1(NM_001319681.1):c.853T>C (p.W285R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000847318" "3" "90" "6" "111064165" "111064165" "subst" "0" "00000" "TCTN1_000025" "g.111064165A>G" "" "{PMID:Alazami 2012:22693042}" "" "TCTN1 c.342-2A>G, p.G115KfsX8" "homozygous" "Germline" "yes" "" "0" "" "" "g.110626360A>G" "" "pathogenic" "" "0000847319" "3" "90" "6" "111064165" "111064165" "subst" "0" "00000" "TCTN1_000025" "g.111064165A>G" "" "{PMID:Alazami 2012:22693042}" "" "TCTN1 c.342-2A>G, p.G115KfsX8" "homozygous" "Germline" "yes" "" "0" "" "" "g.110626360A>G" "" "pathogenic" "" "0000847320" "3" "90" "6" "111064165" "111064165" "subst" "0" "00000" "TCTN1_000025" "g.111064165A>G" "" "{PMID:Alazami 2012:22693042}" "" "TCTN1 c.342-2A>G, p.G115KfsX8" "homozygous" "Germline" "yes" "" "0" "" "" "g.110626360A>G" "" "pathogenic" "" "0000853256" "0" "30" "12" "111085658" "111085658" "subst" "8.12889E-6" "01943" "TCTN1_000038" "g.111085658T>C" "" "" "" "TCTN1(NM_001319681.1):c.1191T>C (p.N397=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862799" "0" "30" "12" "111072208" "111072208" "subst" "0.000170972" "01943" "TCTN1_000036" "g.111072208G>A" "" "" "" "TCTN1(NM_024549.5):c.720G>A (p.A240=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862800" "0" "50" "12" "111080167" "111080167" "subst" "0.000296464" "01943" "TCTN1_000037" "g.111080167A>G" "" "" "" "TCTN1(NM_001319681.1):c.770A>G (p.Y257C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890265" "0" "30" "12" "111078220" "111078220" "subst" "0" "02326" "TCTN1_000039" "g.111078220G>A" "" "" "" "TCTN1(NM_001082538.3):c.876G>A (p.Q292=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890266" "0" "30" "12" "111082819" "111082819" "subst" "0.000580772" "02326" "TCTN1_000040" "g.111082819G>C" "" "" "" "TCTN1(NM_001082538.3):c.1379G>C (p.S460T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913741" "0" "30" "12" "111057705" "111057705" "subst" "7.30964E-5" "02326" "TCTN1_000041" "g.111057705C>T" "" "" "" "TCTN1(NM_001082538.3):c.285C>T (p.P95=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925533" "0" "90" "12" "111066667" "111066667" "subst" "4.06663E-6" "02326" "TCTN1_000042" "g.111066667G>T" "" "" "" "TCTN1(NM_001082538.3):c.568G>T (p.E190*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000925534" "0" "30" "12" "111066669" "111066669" "subst" "0.000117919" "02326" "TCTN1_000005" "g.111066669A>G" "" "" "" "TCTN1(NM_001082538.3):c.570A>G (p.E190=), TCTN1(NM_001319681.1):c.36A>G (p.E12=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930007" "0" "30" "12" "111082911" "111082911" "subst" "0.000361621" "02326" "TCTN1_000043" "g.111082911A>T" "" "" "" "TCTN1(NM_001082538.3):c.1471A>T (p.I491F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027554" "1" "90" "12" "111064165" "111064165" "subst" "0" "00006" "TCTN1_000029" "g.111064165A>C" "" "{PMID:Boissel 2017:29261186}" "" "" "" "Germline" "" "" "0" "" "" "g.110626360A>C" "" "pathogenic (recessive)" "" "0001027572" "2" "90" "12" "111078242" "111078242" "subst" "4.06151E-6" "00006" "TCTN1_000030" "g.111078242C>T" "" "{PMID:Boissel 2017:29261186}" "" "" "" "Germline" "" "" "0" "" "" "g.110640437C>T" "" "pathogenic (recessive)" "" "0001038937" "0" "30" "12" "111054083" "111054083" "subst" "4.15697E-5" "01804" "TCTN1_000044" "g.111054083G>T" "" "" "" "TCTN1(NM_001173976.2):c.-35G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038938" "0" "50" "12" "111080125" "111080125" "subst" "0" "01804" "TCTN1_000045" "g.111080125G>A" "" "" "" "TCTN1(NM_001082538.3):c.1262G>A (p.(Cys421Tyr))" "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 TCTN1 ## Count = 106 "{{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}}" "0000089079" "00000203" "90" "342" "-8" "342" "-8" "c.342-8A>G" "r.341_342insTTTTCAG" "p.Gly115Phefs*9" "2i" "0000089080" "00000203" "90" "1494" "1" "1494" "1" "c.1494+1G>A" "r.1494_1495insATAAAGGGGAGAAG" "p.Asp499Ilefs*16" "12i" "0000254237" "00025979" "30" "570" "0" "570" "0" "c.570A>G" "r.(?)" "p.(Glu190=)" "" "0000254237" "00000203" "30" "570" "0" "570" "0" "c.570A>G" "r.(?)" "p.(Glu190=)" "" "0000314478" "00025979" "10" "1636" "-152" "1636" "-152" "c.1636-152C>T" "r.(=)" "p.(=)" "" "0000314478" "00000203" "10" "1579" "-152" "1579" "-152" "c.1579-152C>T" "r.(=)" "p.(=)" "" "0000314479" "00025979" "10" "341" "135" "341" "135" "c.341+135C>T" "r.(=)" "p.(=)" "" "0000314479" "00000203" "10" "341" "135" "341" "135" "c.341+135C>T" "r.(=)" "p.(=)" "" "0000314480" "00025979" "10" "473" "-10" "473" "-10" "c.473-10T>A" "r.(=)" "p.(=)" "" "0000314480" "00000203" "10" "473" "-10" "473" "-10" "c.473-10T>A" "r.(=)" "p.(=)" "" "0000314481" "00025979" "10" "702" "0" "704" "0" "c.702_704del" "r.(?)" "p.(Asn235del)" "" "0000314481" "00000203" "10" "702" "0" "704" "0" "c.702_704del" "r.(?)" "p.(Asn235del)" "" "0000314482" "00025979" "30" "712" "162" "712" "162" "c.712+162C>A" "r.(=)" "p.(=)" "" "0000314482" "00000203" "30" "712" "162" "712" "162" "c.712+162C>A" "r.(=)" "p.(=)" "" "0000316384" "00025979" "50" "1291" "0" "1291" "0" "c.1291G>C" "r.(?)" "p.(Val431Leu)" "" "0000316384" "00000203" "50" "1249" "0" "1249" "0" "c.1249G>C" "r.(?)" "p.(Val417Leu)" "" "0000316385" "00025979" "30" "1636" "-13" "1636" "-12" "c.1636-13_1636-12del" "r.(=)" "p.(=)" "" "0000316385" "00000203" "30" "1579" "-13" "1579" "-12" "c.1579-13_1579-12del" "r.(=)" "p.(=)" "" "0000316386" "00025979" "30" "713" "-9" "713" "-9" "c.713-9G>T" "r.(=)" "p.(=)" "" "0000316386" "00000203" "30" "780" "198" "780" "198" "c.780+198G>T" "r.(=)" "p.(=)" "" "0000316387" "00025979" "10" "894" "0" "894" "0" "c.894C>T" "r.(?)" "p.(Leu298=)" "" "0000316387" "00000203" "10" "852" "0" "852" "0" "c.852C>T" "r.(?)" "p.(Leu284=)" "" "0000341483" "00025979" "50" "1531" "0" "1531" "0" "c.1531G>A" "r.(?)" "p.(Ala511Thr)" "" "0000341483" "00000203" "50" "1474" "0" "1474" "0" "c.1474G>A" "r.(?)" "p.(Ala492Thr)" "" "0000546491" "00025979" "30" "20" "0" "20" "0" "c.20C>T" "r.(?)" "p.(Pro7Leu)" "" "0000546491" "00000203" "30" "20" "0" "20" "0" "c.20C>T" "r.(?)" "p.(Pro7Leu)" "" "0000546492" "00025979" "50" "110" "0" "110" "0" "c.110C>G" "r.(?)" "p.(Ser37Cys)" "" "0000546492" "00000203" "50" "110" "0" "110" "0" "c.110C>G" "r.(?)" "p.(Ser37Cys)" "" "0000546493" "00025979" "10" "220" "12" "220" "12" "c.220+12G>C" "r.(=)" "p.(=)" "" "0000546493" "00000203" "10" "220" "12" "220" "12" "c.220+12G>C" "r.(=)" "p.(=)" "" "0000546494" "00025979" "30" "220" "1939" "220" "1939" "c.220+1939T>C" "r.(=)" "p.(=)" "" "0000546494" "00000203" "30" "220" "1939" "220" "1939" "c.220+1939T>C" "r.(=)" "p.(=)" "" "0000546495" "00025979" "30" "341" "10" "341" "10" "c.341+10C>T" "r.(=)" "p.(=)" "" "0000546495" "00000203" "30" "341" "10" "341" "10" "c.341+10C>T" "r.(=)" "p.(=)" "" "0000546496" "00025979" "10" "488" "0" "488" "0" "c.488C>A" "r.(?)" "p.(Ser163Tyr)" "" "0000546496" "00000203" "10" "488" "0" "488" "0" "c.488C>A" "r.(?)" "p.(Ser163Tyr)" "" "0000546498" "00025979" "30" "960" "0" "960" "0" "c.960C>T" "r.(?)" "p.(Cys320=)" "" "0000546498" "00000203" "30" "918" "0" "918" "0" "c.918C>T" "r.(?)" "p.(Cys306=)" "" "0000546499" "00025979" "30" "1060" "0" "1060" "0" "c.1060G>A" "r.(?)" "p.(Val354Ile)" "" "0000546499" "00000203" "30" "1018" "0" "1018" "0" "c.1018G>A" "r.(?)" "p.(Val340Ile)" "" "0000546500" "00025979" "50" "1396" "0" "1396" "0" "c.1396G>T" "r.(?)" "p.(Gly466Cys)" "" "0000546500" "00000203" "50" "1354" "0" "1354" "0" "c.1354G>T" "r.(?)" "p.(Gly452Cys)" "" "0000546501" "00025979" "50" "1396" "0" "1396" "0" "c.1396G>T" "r.(?)" "p.(Gly466Cys)" "" "0000546501" "00000203" "50" "1354" "0" "1354" "0" "c.1354G>T" "r.(?)" "p.(Gly452Cys)" "" "0000546502" "00025979" "10" "1396" "0" "1396" "0" "c.1396G>T" "r.(?)" "p.(Gly466Cys)" "" "0000546502" "00000203" "10" "1354" "0" "1354" "0" "c.1354G>T" "r.(?)" "p.(Gly452Cys)" "" "0000622782" "00025979" "30" "713" "-227" "713" "-227" "c.713-227G>A" "r.(=)" "p.(=)" "" "0000622782" "00000203" "30" "760" "0" "760" "0" "c.760G>A" "r.(?)" "p.(Glu254Lys)" "" "0000648454" "00025979" "90" "342" "-2" "342" "-2" "c.342-2A>G" "r.spl?" "p.?" "" "0000648454" "00000203" "90" "342" "-2" "342" "-2" "c.342-2A>G" "r.spl?" "p.?" "" "0000648455" "00025979" "30" "488" "0" "488" "0" "c.488C>A" "r.(?)" "p.(Ser163Tyr)" "" "0000648455" "00000203" "30" "488" "0" "488" "0" "c.488C>A" "r.(?)" "p.(Ser163Tyr)" "" "0000648456" "00025979" "30" "1396" "0" "1396" "0" "c.1396G>T" "r.(?)" "p.(Gly466Cys)" "" "0000648456" "00000203" "30" "1354" "0" "1354" "0" "c.1354G>T" "r.(?)" "p.(Gly452Cys)" "" "0000656981" "00025979" "50" "322" "0" "322" "0" "c.322T>C" "r.(?)" "p.(Cys108Arg)" "" "0000656981" "00000203" "50" "322" "0" "322" "0" "c.322T>C" "r.(?)" "p.(Cys108Arg)" "" "0000669146" "00025979" "30" "1396" "0" "1396" "0" "c.1396G>T" "r.(?)" "p.(Gly466Cys)" "" "0000669146" "00000203" "30" "1354" "0" "1354" "0" "c.1354G>T" "r.(?)" "p.(Gly452Cys)" "" "0000679395" "00025979" "50" "1229" "0" "1229" "0" "c.1229T>C" "r.(?)" "p.(Leu410Pro)" "" "0000679395" "00000203" "50" "1187" "0" "1187" "0" "c.1187T>C" "r.(?)" "p.(Leu396Pro)" "" "0000691242" "00025979" "50" "940" "0" "940" "0" "c.940G>A" "r.(?)" "p.(Ala314Thr)" "" "0000691242" "00000203" "50" "898" "0" "898" "0" "c.898G>A" "r.(?)" "p.(Ala300Thr)" "" "0000765703" "00000203" "90" "342" "-2" "342" "-2" "c.342-2A>C" "r.spl" "p.?" "" "0000765739" "00000203" "90" "856" "0" "856" "0" "c.856C>T" "p.(Arg286*)" "p.(Arg286*)" "" "0000783525" "00025979" "90" "342" "-2" "342" "-2" "c.342-2A>G" "r.spl?" "p.?" "" "0000783525" "00000203" "90" "342" "-2" "342" "-2" "c.342-2A>G" "r.spl?" "p.?" "" "0000783594" "00025979" "50" "797" "0" "797" "0" "c.797T>G" "r.(?)" "p.(Phe266Cys)" "" "0000783594" "00000203" "50" "780" "291" "780" "291" "c.780+291T>G" "r.(=)" "p.(=)" "" "0000783765" "00025979" "50" "1039" "0" "1039" "0" "c.1039G>A" "r.(?)" "p.(Val347Ile)" "" "0000783765" "00000203" "50" "997" "0" "997" "0" "c.997G>A" "r.(?)" "p.(Val333Ile)" "" "0000785421" "00000203" "50" "702" "0" "704" "0" "c.702_704del" "r.(?)" "p.(Asn235del)" "" "0000785443" "00000203" "50" "341" "1" "341" "1" "c.341+1G>A" "r.spl" "p.?" "" "0000785447" "00000203" "50" "1579" "-13" "1579" "-12" "c.1579-13_1579-12del" "r.(?)" "p.?" "" "0000793985" "00000203" "90" "342" "-2" "342" "-2" "c.342-2A>G" "r.spl?" "p.G115Kfs*8" "2i" "0000793986" "00000203" "90" "342" "-2" "342" "-2" "c.342-2A>G" "r.spl?" "p.G115Kfs*8" "2i" "0000805523" "00025979" "30" "327" "0" "327" "0" "c.327A>G" "r.(?)" "p.(Ser109=)" "" "0000805523" "00000203" "30" "327" "0" "327" "0" "c.327A>G" "r.(?)" "p.(Ser109=)" "" "0000805524" "00025979" "50" "1387" "0" "1387" "0" "c.1387T>C" "r.(?)" "p.(Trp463Arg)" "" "0000805524" "00000203" "50" "1345" "0" "1345" "0" "c.1345T>C" "r.(?)" "p.(Trp449Arg)" "" "0000847318" "00000203" "90" "342" "-2" "342" "-2" "c.342-2A>G" "r.342_397del" "p.(Gly115Lysfs*8)" "" "0000847319" "00000203" "90" "342" "-2" "342" "-2" "c.342-2A>G" "r.342_397del" "p.(Gly115Lysfs*8)" "" "0000847320" "00000203" "90" "342" "-2" "342" "-2" "c.342-2A>G" "r.342_397del" "p.(Gly115Lysfs*8)" "" "0000853256" "00025979" "30" "1740" "0" "1740" "0" "c.1740T>C" "r.(?)" "p.(Asn580=)" "" "0000853256" "00000203" "30" "1683" "0" "1683" "0" "c.1683T>C" "r.(?)" "p.(Asn561=)" "" "0000862799" "00025979" "30" "713" "-267" "713" "-267" "c.713-267G>A" "r.(=)" "p.(=)" "" "0000862799" "00000203" "30" "720" "0" "720" "0" "c.720G>A" "r.(?)" "p.(Ala240=)" "" "0000862800" "00025979" "50" "1304" "0" "1304" "0" "c.1304A>G" "r.(?)" "p.(Tyr435Cys)" "" "0000862800" "00000203" "50" "1262" "0" "1262" "0" "c.1262A>G" "r.(?)" "p.(Tyr421Cys)" "" "0000890265" "00025979" "30" "876" "0" "876" "0" "c.876G>A" "r.(?)" "p.(Gln292=)" "" "0000890265" "00000203" "30" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Gln278=)" "" "0000890266" "00025979" "30" "1379" "0" "1379" "0" "c.1379G>C" "r.(?)" "p.(Ser460Thr)" "" "0000890266" "00000203" "30" "1337" "0" "1337" "0" "c.1337G>C" "r.(?)" "p.(Ser446Thr)" "" "0000913741" "00025979" "30" "285" "0" "285" "0" "c.285C>T" "r.(?)" "p.(Pro95=)" "" "0000913741" "00000203" "30" "285" "0" "285" "0" "c.285C>T" "r.(?)" "p.(Pro95=)" "" "0000925533" "00025979" "90" "568" "0" "568" "0" "c.568G>T" "r.(?)" "p.(Glu190*)" "" "0000925533" "00000203" "90" "568" "0" "568" "0" "c.568G>T" "r.(?)" "p.(Glu190*)" "" "0000925534" "00025979" "30" "570" "0" "570" "0" "c.570A>G" "r.(?)" "p.(Glu190=)" "" "0000925534" "00000203" "30" "570" "0" "570" "0" "c.570A>G" "r.(?)" "p.(Glu190=)" "" "0000930007" "00025979" "30" "1471" "0" "1471" "0" "c.1471A>T" "r.(?)" "p.(Ile491Phe)" "" "0000930007" "00000203" "30" "1429" "0" "1429" "0" "c.1429A>T" "r.(?)" "p.(Ile477Phe)" "" "0001027554" "00025979" "90" "342" "-2" "342" "-2" "c.342-2A>C" "r.spl" "p.?" "" "0001027572" "00025979" "90" "" "0" "" "0" ":c.898C>T" "r.(?)" "p.(Arg300Ter)" "" "0001038937" "00025979" "30" "220" "1876" "220" "1876" "c.220+1876G>T" "r.(=)" "p.(=)" "" "0001038937" "00000203" "30" "220" "1876" "220" "1876" "c.220+1876G>T" "r.(=)" "p.(=)" "" "0001038938" "00025979" "50" "1262" "0" "1262" "0" "c.1262G>A" "r.(?)" "p.(Cys421Tyr)" "" "0001038938" "00000203" "50" "1220" "0" "1220" "0" "c.1220G>A" "r.(?)" "p.(Cys407Tyr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{variantid}}" "0000028954" "0000785443" "0000028984" "0000785447" "0000058499" "0000089079" "0000058500" "0000089080" "0000291765" "0000648454" "0000291766" "0000648455" "0000291767" "0000648456" "0000305458" "0000669146" "0000364796" "0000765703" "0000364796" "0000765739" "0000373545" "0000783525" "0000373614" "0000783594" "0000373614" "0000783765" "0000374620" "0000785421" "0000380789" "0000793985" "0000380790" "0000793986" "0000410069" "0000847318" "0000410070" "0000847319" "0000410071" "0000847320" "0000463934" "0001027554" "0000463934" "0001027572"