### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CLTC) # 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}}" "CLTC" "clathrin, heavy chain (Hc)" "17" "q11-qter" "unknown" "NC_000017.10" "UD_132378640057" "" "https://www.LOVD.nl/CLTC" "" "1" "2092" "1213" "118955" "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/CLTC_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-10-23 13:46:41" "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}}" "00005342" "CLTC" "clathrin, heavy chain (Hc)" "001" "NM_004859.3" "" "NP_004850.1" "" "" "" "-443" "8132" "5028" "57697050" "57774317" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" "05533" "MR;ID" "mental retardation (MR, intellectual disability (ID))" "" "" "" "" "" "00006" "2018-12-18 09:22:07" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06350" "MRD56" "intellectual developmental disorder, autosomal dominant, type 56" "AD" "617854" "" "" "" "00006" "2021-12-10 23:20:41" "00006" "2023-10-23 13:45:51" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "CLTC" "05533" "CLTC" "06350" ## Individuals ## Do not remove or alter this header ## ## Count = 19 "{{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}}" "00303067" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat109" "00305524" "" "" "" "1" "" "00006" "{PMID:Vissers 2020:32553196}" "2-generation family, 1 affected, adopted" "F" "" "" "" "0" "" "" "" "Individual 10" "00431256" "" "" "" "1" "" "01164" "" "" "M" "yes" "" "" "0" "" "" "" "194685" "00438603" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSC0054" "00438742" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "" "F" "" "United States" "" "0" "" "" "" "PBSD" "00438743" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "" "M" "" "United States" "" "0" "" "" "Jew-Ashkenazi" "5289183" "00438744" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "" "M" "" "Netherlands" "" "0" "" "" "" "indvAA" "00438745" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "" "M" "" "" "" "0" "" "" "" "CAUSES1" "00438746" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "" "F" "" "" "" "0" "" "" "" "18052017" "00438748" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "" "M" "" "" "" "0" "" "" "" "indvPAR" "00438749" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "DDD261801" "00438750" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "" "M" "" "" "" "0" "" "" "" "273692" "00438751" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "" "F" "" "" "" "0" "" "" "" "indvMB" "00438752" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "" "M" "" "United States" "" "0" "" "" "" "LDKQS" "00438753" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "" "F" "" "Netherlands" "" "0" "" "" "" "DDD00280" "00438754" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "" "M" "" "" "" "0" "" "" "" "281177" "00452793" "" "" "" "1" "" "00006" "" "contact me for details" "F" "" "China" "" "0" "" "" "" "private email" "00460924" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00466036" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 19 "{{individualid}}" "{{diseaseid}}" "00303067" "05521" "00305524" "05611" "00431256" "06350" "00438603" "06906" "00438742" "06906" "00438743" "06906" "00438744" "06906" "00438745" "06906" "00438746" "06906" "00438748" "00139" "00438749" "00139" "00438750" "06906" "00438751" "06906" "00438752" "00139" "00438753" "00139" "00438754" "00139" "00452793" "00198" "00460924" "00198" "00466036" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 05521, 05533, 05611, 06350, 06906 ## Count = 18 "{{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}}" "0000230150" "05521" "00303067" "00006" "Isolated (sporadic)" "" "Unclassified epilepsy (presumably focal); age onset unknown" "" "" "" "" "" "" "" "" "" "seizures" "" "0000231373" "05611" "00305524" "00006" "Unknown" "9y" "birth at term, weight 3530 (normal); height 133.6 (normal) growth hormone treatment, weight 25 (normal), OFC 53.4 (normal); mild/moderate intellectual disability; developmental delay; motor delay; speech delay; no dysarthria; epilepsy, mildly abnormal EEG; hypotonia; no spasticity; ataxia; Repetitive behavior, self mutilation, sensory processing problems, episodes of rocking/head banging; Severe: can go without sleep for days, sleeps 3no sleep disturbances5 hours in a night; facial abnormalities; Still\'s murmur, 1st degree AV block, enlarged coronary sinus suggestive of persistent LSVC (hemodynamically insignificant); Nocturnal incontinence, overactive bladder; Constipation; no pulmomal abnormalities; Raspberry and seasonal allergy, frequent fevers and vomiting; Growth hormone therapy; Bowing of legs, hyperextensible legs, general hypermobility, long neck, removal of benign cyst from neck, able to dislocate jaw, bruises very easily; no hearing abnormalities; Esotropia, hypermetropia of both eyes; Hirsutism, delayed dentition, all toenails mildly dysplastic, hypoplasia of 5th toenail bilaterally; Tapered fingers, pes planus bilaterally; Regression of speech and motor milestones; MRI-brain no holoprosencephaly, L frontal lobe grey matter heterotopia" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000321856" "06350" "00431256" "01164" "Unknown" "08y" "Intellectual disability, mild, Global developmental delay, Cerebellar atrophy, Congenital contracture" "" "" "" "" "" "" "" "" "" "" "" "0000328506" "06906" "00438603" "00006" "Isolated (sporadic)" "23y" "see paper; ..., global developmental delay, moderate intellectual disability; 5m-seizure; EEG generalized spike-wave, poly-spike and wave; MRI brain delayed myelination, 20y-normal; neonatal hypotonia, scoliosis, intractable seizures until puberty, no seizures under LEV and LTG" "" "" "" "" "" "" "" "" "MRD56" "developmental and epileptic encephalopathy" "" "0000328640" "06906" "00438742" "00006" "Isolated (sporadic)" "11y02m" "see paper; ..., global developmental delay, 5y-borderline intellectual disability; no seizures; MRI brain T2 hypersignal in white matter (hypomyelination); ADHD, impulsivity, poor socialization skills, mild hypotonia, wide-based gait" "" "" "" "" "" "" "" "" "MRD56" "global developmental delay" "" "0000328641" "06906" "00438743" "00006" "Isolated (sporadic)" "20y05m" "see paper; ..., bordeline intellectual disability, learning disabilities; 14y-1 seizure; EEG \tnormal; MRI brain normal; progressive paraparesis with lower-limb spasticity, ataxia, myoclonus, one seizure without recurrence under LEV, no seizures for 4 years off meds" "" "" "" "" "" "" "" "" "MRD56" "learning disabilities" "" "0000328642" "06906" "00438744" "00006" "Isolated (sporadic)" "03y02m" "see paper; ..., global developmental delay; no seizures; EEG normal; MRI brain normal; mild ataxia, possible myoclonus" "" "" "" "" "" "" "" "" "MRD56" "global developmental delay" "" "0000328643" "06906" "00438745" "00006" "Isolated (sporadic)" "04y07m" "see paper; ..., global developmental delay, suspected intellectual disability; no seizures; MRI brain normal; mild hypotonia, oral and motor apraxia, suspected ADHD" "" "" "" "" "" "" "" "" "MRD56" "global developmental delay" "" "0000328644" "06906" "00438746" "00006" "Isolated (sporadic)" "30y" "see paper; ..., moderate intellectual disability; no seizures; EEG normal; MRI brain; normal; bradykinesia, bradypsychism, hypomimia, hypokinesia, clumsiness, attention instability" "" "" "" "" "" "" "" "" "MRD56" "intellectual disability" "" "0000328646" "00139" "00438748" "00006" "Isolated (sporadic)" "16y" "see paper; ..., severe intellectual disability; 1y-seizure; EEG non-specific irritative pattern, no foci; MRI brain thin/short corpus callosum with hypoplasia posterior part, wide Virchow-Robin spaces; neonatal-onset hypotonia, no speech, acquired microcephaly, severe gastroinstestinal reflux, no seizures under VPA" "" "" "" "" "" "" "" "" "MRD56" "developmental and epileptic encephalopathy" "" "0000328647" "00139" "00438749" "00006" "Isolated (sporadic)" "10y07m" "see paper; ..., mild global developmental delay, mild intellectual disability; no seizures; MRI brain normal; neonatal-onset hypotonia, congenital ptosis, poor social skills" "" "" "" "" "" "" "" "" "MRD56" "intellectual disability" "" "0000328648" "06906" "00438750" "00006" "Isolated (sporadic)" "04y" "see paper; ..., severe global developmental delay, suspected severe intellectual disability; 2y-seizure; EEG abnormal; MRI brain pontocerebellar atrophy, delayed myelination; non-ambulation, spasticity, dystonia, myoclonus, neonatal feeding difficulties, visual impairment, seizure control with LEV" "" "" "" "" "" "" "" "" "MRD56" "developmental and epileptic encephalopathy" "" "0000328649" "06906" "00438751" "00006" "Isolated (sporadic)" "07y06m" "see paper; ..., global developmental delay, severe intellectual disability; 3y-seizure; EEG multifocal spike-wave, bi-frontal predominance; MRI brain thin corpus calloum T2 hypersignal in white matter, enlarged lateral ventricles; acquired microcephaly, severe hypotonia, ataxia, oral and motor apraxia, intractable seizures" "" "" "" "" "" "" "" "" "MRD56" "developmental and epileptic encephalopathy" "" "0000328650" "00139" "00438752" "00006" "Isolated (sporadic)" "12y10m" "see paper; ..., global developmental delay, moderate intellectual disability; no seizures; MRI brain normal; hypotonia, neonatal feeding difficulties, sensorineural hearing loss" "" "" "" "" "" "" "" "" "MRD56" "intellectual disability" "" "0000328651" "00139" "00438753" "00006" "Isolated (sporadic)" "06y" "see paper; ..., global developmental delay, moderate/severe intellectual disability; no seizures; hypotonia" "" "" "" "" "" "" "" "" "MRD56" "intellectual disability" "" "0000328652" "00139" "00438754" "00006" "Isolated (sporadic)" "11y" "see paper; ..., moderate intellectual disability; no seizures; neonatal hypotonia" "" "" "" "" "" "" "" "" "MRD56" "intellectual disability" "" "0000341358" "00198" "00452793" "00006" "Isolated (sporadic)" "00y03m" "slowly sucking milk, sometimes cries loudly, suddenly raise both hands when sleeping; gradually, improved drinking milk" "" "" "slowly sucking milk" "" "" "" "" "" "MRD56" "" "" "0000351420" "05611" "00466036" "03544" "Isolated (sporadic)" "" "HP:0010864, HP:0002342, HP:0100704, HP:0001250, HP:0002384, HP:0001252, HP:0000286, HP:0000582, HP:0001357, HP:0000545" "" "" "" "" "" "" "" "" "MRD56" "NDD" "" ## Screenings ## Do not remove or alter this header ## ## Count = 19 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000304192" "00303067" "1" "00006" "00006" "2020-06-05 14:49:11" "" "" "SEQ-NG" "DNA" "" "WES" "0000306653" "00305524" "1" "00006" "00006" "2020-06-28 10:52:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432668" "00431256" "1" "01164" "01164" "2023-02-06 16:52:52" "" "" "SEQ-NG-I" "DNA" "" "" "0000440085" "00438603" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000440224" "00438742" "1" "00006" "00006" "2023-10-23 13:51:16" "" "" "SEQ-NG" "DNA" "" "trio WES" "0000440225" "00438743" "1" "00006" "00006" "2023-10-23 13:58:44" "" "" "SEQ-NG" "DNA" "" "trio WES" "0000440226" "00438744" "1" "00006" "00006" "2023-10-23 14:02:41" "" "" "SEQ-NG" "DNA" "" "trio WES" "0000440227" "00438745" "1" "00006" "00006" "2023-10-23 14:05:58" "" "" "SEQ-NG" "DNA" "" "" "0000440228" "00438746" "1" "00006" "00006" "2023-10-23 14:09:39" "" "" "SEQ-NG" "DNA" "" "trio WES" "0000440230" "00438748" "1" "00006" "00006" "2023-10-23 14:13:26" "" "" "SEQ-NG" "DNA" "" "" "0000440231" "00438749" "1" "00006" "00006" "2023-10-23 14:17:13" "" "" "SEQ-NG" "DNA" "" "" "0000440232" "00438750" "1" "00006" "00006" "2023-10-23 14:23:52" "" "" "SEQ-NG" "DNA" "" "" "0000440233" "00438751" "1" "00006" "00006" "2023-10-23 14:28:43" "" "" "SEQ-NG" "DNA" "" "trio WES" "0000440234" "00438752" "1" "00006" "00006" "2023-10-23 14:35:33" "" "" "SEQ-NG" "DNA" "" "trio WES clinical" "0000440235" "00438753" "1" "00006" "00006" "2023-10-23 14:39:48" "" "" "SEQ-NG" "DNA" "" "trio WES" "0000440236" "00438754" "1" "00006" "00006" "2023-10-23 14:42:50" "" "" "SEQ-NG" "DNA" "" "trio WES" "0000454395" "00452793" "1" "00006" "00006" "2024-07-24 10:37:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000462556" "00460924" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "mRNA splicing analysis on tissue" "0000467687" "00466036" "1" "03544" "03544" "2025-07-10 07:54:44" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000304192" "CLTC" "0000306653" "CNOT1" "0000432668" "CLTC" "0000462556" "CLTC" ## 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 = 73 "{{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}}" "0000270303" "0" "50" "17" "57743466" "57743466" "subst" "0" "02326" "CLTC_000001" "g.57743466T>G" "" "" "" "CLTC(NM_004859.4):c.1647T>G (p.I549M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.59666105T>G" "" "VUS" "" "0000325523" "0" "50" "17" "57754422" "57754422" "subst" "0" "01804" "CLTC_000002" "g.57754422C>T" "" "" "" "CLTC(NM_004859.3):c.2669C>T (p.(Pro890Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.59677061C>T" "" "VUS" "" "0000325524" "0" "50" "17" "57775000" "57775000" "subst" "1.6255E-5" "01804" "PTRH2_000001" "g.57775000G>C" "" "" "" "PTRH2(NM_016077.3):c.340C>G (p.(Pro114Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.59697639G>C" "" "VUS" "" "0000339084" "0" "50" "17" "57742244" "57742244" "subst" "0" "02327" "CLTC_000003" "g.57742244G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.59664883G>T" "" "VUS" "" "0000344571" "0" "50" "17" "57762957" "57762957" "subst" "0" "02327" "CLTC_000004" "g.57762957C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.59685596C>T" "" "VUS" "" "0000344991" "0" "50" "17" "57775086" "57775086" "subst" "0" "02327" "PTRH2_000003" "g.57775086T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.59697725T>G" "" "VUS" "" "0000345026" "0" "50" "17" "57775048" "57775048" "subst" "0" "02327" "PTRH2_000002" "g.57775048G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.59697687G>A" "" "VUS" "" "0000348606" "0" "90" "17" "57754422" "57754422" "subst" "0" "02327" "CLTC_000002" "g.57754422C>T" "" "" "" "CLTC(NM_004859.3):c.2669C>T (p.(Pro890Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.59677061C>T" "" "pathogenic" "" "0000562483" "0" "50" "17" "57724877" "57724877" "subst" "0" "01943" "CLTC_000005" "g.57724877G>A" "" "" "" "CLTC(NM_001288653.1):c.381G>A (p.T127=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59647516G>A" "" "VUS" "" "0000562484" "0" "90" "17" "57738862" "57738862" "del" "0" "01943" "CLTC_000006" "g.57738862del" "" "" "" "CLTC(NM_001288653.1):c.1238delG (p.G413Vfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59661501del" "" "pathogenic" "" "0000562485" "0" "70" "17" "57746281" "57746281" "subst" "0" "02327" "CLTC_000007" "g.57746281C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59668920C>T" "" "likely pathogenic" "" "0000562487" "0" "70" "17" "57760266" "57760266" "subst" "0" "01804" "CLTC_000009" "g.57760266A>G" "" "" "" "CLTC(NM_004859.3):c.3766-2A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59682905A>G" "" "likely pathogenic" "" "0000562488" "0" "30" "17" "57763030" "57763030" "subst" "2.03207E-5" "01804" "CLTC_000010" "g.57763030G>A" "" "" "" "CLTC(NM_004859.3):c.4688G>A (p.(Arg1563Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59685669G>A" "" "likely benign" "" "0000562489" "0" "90" "17" "57763058" "57763059" "del" "0" "02327" "CLTC_000011" "g.57763058_57763059del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59685697_59685698del" "" "pathogenic" "" "0000616717" "0" "50" "17" "57758840" "57758841" "dup" "0" "02325" "CLTC_000013" "g.57758840_57758841dup" "" "" "" "CLTC(NM_001288653.2):c.3261_3261+1insGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59681479_59681480dup" "" "VUS" "" "0000616718" "0" "50" "17" "57760343" "57760343" "subst" "0" "02327" "CLTC_000014" "g.57760343G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59682982G>C" "" "VUS" "" "0000623728" "0" "50" "17" "57724834" "57724834" "subst" "4.06332E-6" "02329" "CLTC_000012" "g.57724834C>A" "" "" "" "CLTC(NM_001288653.1):c.338C>A (p.T113N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59647473C>A" "" "VUS" "" "0000623729" "0" "50" "17" "57761049" "57761049" "subst" "0" "02325" "CLTC_000015" "g.57761049T>G" "" "" "" "CLTC(NM_001288653.2):c.4267T>G (p.L1423V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59683688T>G" "" "VUS" "" "0000667605" "0" "70" "17" "57754490" "57754491" "dup" "0" "00006" "CLTC_000017" "g.57754490_57754491dup" "" "" "" "2737_2738dupGA" "" "De novo" "" "" "0" "" "" "g.59677129_59677130dup" "" "likely pathogenic (dominant)" "ACMG" "0000670365" "0" "90" "17" "57761312" "57761313" "del" "0" "00006" "CLTC_000018" "g.57761312_57761313del" "" "{PMID:Vissers 2020:32553196}" "" "4400_4401delTG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.59683951_59683952del" "" "likely pathogenic" "" "0000680942" "0" "50" "17" "57759089" "57759089" "subst" "0" "01943" "CLTC_000019" "g.57759089C>T" "" "" "" "CLTC(NM_001288653.1):c.3343C>T (p.L1115F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692415" "0" "30" "17" "57762475" "57762475" "subst" "0.000403726" "01943" "CLTC_000020" "g.57762475G>A" "" "" "" "CLTC(NM_001288653.1):c.4505G>A (p.R1502H), CLTC(NM_001288653.2):c.4505G>A (p.R1502H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692416" "0" "30" "17" "57762475" "57762475" "subst" "0.000403726" "02325" "CLTC_000020" "g.57762475G>A" "" "" "" "CLTC(NM_001288653.1):c.4505G>A (p.R1502H), CLTC(NM_001288653.2):c.4505G>A (p.R1502H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726547" "0" "50" "17" "57756783" "57756783" "subst" "0" "02329" "CLTC_000008" "g.57756783A>C" "" "" "" "CLTC(NM_001288653.1):c.2834A>C (p.K945T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726548" "0" "90" "17" "57760557" "57760557" "dup" "0" "01943" "CLTC_000021" "g.57760557dup" "" "" "" "CLTC(NM_001288653.1):c.3987dupT (p.K1330*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000726549" "0" "50" "17" "57774823" "57774823" "subst" "0" "02327" "CLTC_000022" "g.57774823T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726550" "0" "70" "17" "57774829" "57774829" "del" "0" "02327" "CLTC_000023" "g.57774829del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000726551" "0" "90" "17" "57775070" "57775071" "del" "0" "02327" "CLTC_000024" "g.57775070_57775071del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000726552" "0" "30" "17" "57775279" "57775279" "subst" "0.00417358" "02327" "CLTC_000025" "g.57775279C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808148" "0" "30" "17" "57739009" "57739009" "subst" "4.06828E-5" "02325" "CLTC_000026" "g.57739009G>A" "" "" "" "CLTC(NM_001288653.2):c.1380+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855023" "0" "90" "17" "57738910" "57738923" "del" "0" "02325" "CLTC_000028" "g.57738910_57738923del" "" "" "" "CLTC(NM_001288653.2):c.1286_1299delGACAGCTCAACAAA (p.G429Vfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000855024" "0" "90" "17" "57758663" "57758663" "subst" "0" "01943" "CLTC_000029" "g.57758663C>T" "" "" "" "CLTC(NM_001288653.1):c.3085C>T (p.Q1029*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000855025" "0" "30" "17" "57775289" "57775289" "subst" "0.000215719" "01943" "CLTC_000030" "g.57775289G>A" "" "" "" "PTRH2(NM_001015509.2):c.54C>T (p.L18=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000872398" "0" "70" "17" "57760519" "57760519" "subst" "0" "03779" "CLTC_000031" "g.57760519C>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000877444" "0" "50" "17" "57760519" "57760519" "subst" "0" "03779" "CLTC_000031" "g.57760519C>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000894072" "0" "50" "17" "57743564" "57743564" "subst" "1.21929E-5" "02325" "CLTC_000032" "g.57743564C>T" "" "" "" "CLTC(NM_001288653.2):c.1757C>T (p.T586M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914919" "0" "70" "17" "57758319" "57758322" "del" "0" "02329" "CLTC_000033" "g.57758319_57758322del" "" "" "" "CLTC(NM_004859.4):c.2966_2969delCAGT (p.S989*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000914920" "0" "30" "17" "57760484" "57760484" "subst" "0.000138571" "02325" "CLTC_000034" "g.57760484C>T" "" "" "" "CLTC(NM_001288653.2):c.3914C>T (p.T1305I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914921" "0" "50" "17" "57762541" "57762541" "subst" "0" "02327" "CLTC_000035" "g.57762541G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914922" "0" "50" "17" "57763044" "57763044" "subst" "0" "02327" "CLTC_000036" "g.57763044G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000918225" "0" "70" "17" "57760281" "57760281" "subst" "0" "01164" "CLTC_000027" "g.57760281G>A" "" "" "" "" "ACMG PS2_MOD, PP3_MOD, PM2_SUP, PP2; confirmed de novo in trio-exome" "De novo" "-" "" "0" "" "" "g.59682920G>A" "" "likely pathogenic (dominant)" "ACMG" "0000926587" "0" "30" "17" "57739008" "57739008" "subst" "0" "02325" "CLTC_000037" "g.57739008C>T" "" "" "" "CLTC(NM_001288653.2):c.1380+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930835" "0" "50" "17" "57721839" "57721839" "subst" "0" "02327" "CLTC_000038" "g.57721839T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930836" "0" "90" "17" "57733217" "57733217" "del" "0" "02327" "CLTC_000039" "g.57733217del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000936243" "0" "90" "17" "57762557" "57762557" "dup" "0" "00006" "CLTC_000040" "g.57762557dup" "" "{PMID:Hamdan 2017:29100083}" "" "NM_004859:c.4575dupA (V1525fs)" "" "De novo" "" "" "0" "" "" "g.59685196dup" "" "pathogenic (dominant)" "" "0000936532" "0" "90" "17" "57737759" "57737762" "del" "0" "00006" "CLTC_000041" "g.57737759_57737762del" "" "{PMID:Hamdan 2017:29100083}" "" "989_992delCATG" "" "De novo" "" "" "0" "" "" "g.59660398_59660401del" "" "likely pathogenic (dominant)" "" "0000936533" "0" "70" "17" "57743480" "57743488" "del" "0" "00006" "CLTC_000042" "g.57743480_57743488del" "" "{PMID:Hamdan 2017:29100083}" "" "" "" "De novo" "" "" "0" "" "" "g.59666119_59666127del" "" "likely pathogenic (dominant)" "" "0000936534" "0" "70" "17" "57754422" "57754422" "subst" "0" "00006" "CLTC_000002" "g.57754422C>T" "" "{PMID:Hamdan 2017:29100083}" "" "" "" "De novo" "" "" "0" "" "" "g.59677061C>T" "" "likely pathogenic (dominant)" "" "0000936535" "0" "70" "17" "57754422" "57754422" "subst" "0" "00006" "CLTC_000002" "g.57754422C>T" "" "{PMID:Hamdan 2017:29100083}" "" "" "" "De novo" "" "" "0" "" "" "g.59677061C>T" "" "likely pathogenic (dominant)" "" "0000936536" "0" "70" "17" "57754422" "57754422" "subst" "0" "00006" "CLTC_000002" "g.57754422C>T" "" "{PMID:Hamdan 2017:29100083}" "" "" "" "De novo" "" "" "0" "" "" "g.59677061C>T" "" "likely pathogenic (dominant)" "" "0000936538" "0" "70" "17" "57758730" "57758730" "subst" "0" "00006" "CLTC_000043" "g.57758730T>C" "" "{PMID:Hamdan 2017:29100083}" "" "" "" "De novo" "" "" "0" "" "" "g.59681369T>C" "" "likely pathogenic (dominant)" "" "0000936539" "0" "90" "17" "57759784" "57759784" "subst" "0" "00006" "CLTC_000044" "g.57759784C>T" "" "{PMID:Hamdan 2017:29100083}" "" "" "" "De novo" "" "" "0" "" "" "g.59682423C>T" "" "likely pathogenic (dominant)" "" "0000936540" "0" "70" "17" "57759080" "57759080" "subst" "0" "00006" "CLTC_000045" "g.57759080T>C" "" "{PMID:Hamdan 2017:29100083}" "" "" "" "De novo" "" "" "0" "" "" "g.59681719T>C" "" "likely pathogenic (dominant)" "" "0000936541" "0" "70" "17" "57760010" "57760012" "del" "0" "00006" "CLTC_000046" "g.57760010_57760012del" "" "{PMID:Hamdan 2017:29100083}" "" "" "" "De novo" "" "" "0" "" "" "g.59682649_59682651del" "" "likely pathogenic (dominant)" "" "0000936542" "0" "70" "17" "57762589" "57762589" "subst" "0" "00006" "CLTC_000047" "g.57762589T>C" "" "{PMID:Hamdan 2017:29100083}" "" "" "" "De novo" "" "" "0" "" "" "g.59685228T>C" "" "likely pathogenic (dominant)" "" "0000936543" "0" "90" "17" "57763005" "57763005" "subst" "0" "00006" "CLTC_000048" "g.57763005C>T" "" "{PMID:Hamdan 2017:29100083}" "" "" "" "De novo" "" "" "0" "" "" "g.59685644C>T" "" "likely pathogenic (dominant)" "" "0000936544" "0" "90" "17" "57763009" "57763009" "subst" "0" "00006" "CLTC_000049" "g.57763009G>A" "" "{PMID:Hamdan 2017:29100083}" "" "" "" "De novo" "" "" "0" "" "" "g.59685648G>A" "" "likely pathogenic (dominant)" "" "0000950970" "0" "50" "17" "57758790" "57758790" "subst" "0" "02325" "CLTC_000050" "g.57758790A>C" "" "" "" "CLTC(NM_001288653.2):c.3212A>C (p.E1071A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982661" "0" "30" "17" "57697538" "57697538" "subst" "2.87685E-5" "01804" "CLTC_000051" "g.57697538C>A" "" "" "" "CLTC(NM_004859.4):c.42+4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982662" "0" "30" "17" "57733211" "57733211" "subst" "0" "01804" "CLTC_000052" "g.57733211G>A" "" "" "" "CLTC(NM_004859.4):c.796-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982663" "0" "30" "17" "57733296" "57733296" "subst" "3.26238E-5" "01804" "CLTC_000053" "g.57733296A>G" "" "" "" "CLTC(NM_004859.4):c.877A>G (p.(Ile293Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982664" "0" "50" "17" "57762074" "57762074" "subst" "0" "01804" "CLTC_000054" "g.57762074G>A" "" "" "" "CLTC(NM_004859.4):c.4435-343G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000989200" "0" "90" "17" "57760327" "57760328" "delins" "0" "00006" "CLTC_000055" "g.57760327_57760328delinsAAT" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.59682966_59682967delinsAAT" "" "likely pathogenic (dominant)" "" "0001003460" "0" "50" "17" "57760087" "57760087" "subst" "0" "01804" "CLTC_000056" "g.57760087A>T" "" "" "" "CLTC(NM_004859.3):c.3698A>T (p.(His1233Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001022083" "0" "70" "17" "57724877" "57724877" "subst" "0" "04796" "CLTC_000005" "g.57724877G>A" "" "" "" "NM_001288653.1:c.381G>A" "effect on RNA exclusion of exon" "Germline/De novo (untested)" "" "" "0" "" "" "g.59647516G>A" "" "likely pathogenic" "" "0001026996" "0" "50" "17" "57738813" "57738813" "subst" "0" "02329" "CLTC_000057" "g.57738813C>T" "" "" "" "CLTC(NM_004859.4):c.1177C>T (p.R393C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042028" "0" "50" "17" "57721769" "57721769" "subst" "4.06184E-6" "01804" "CLTC_000058" "g.57721769A>G" "" "" "" "CLTC(NM_004859.4):c.175A>G (p.(Ser59Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042029" "0" "50" "17" "57737944" "57737944" "subst" "0" "01804" "CLTC_000059" "g.57737944C>T" "" "" "" "CLTC(NM_004859.4):c.1162C>T (p.(Pro388Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042030" "0" "30" "17" "57768039" "57768041" "del" "0" "01804" "CLTC_000060" "g.57768039_57768041del" "" "" "" "CLTC(NM_004859.4):c.4870_4872del (p.(Glu1624del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042031" "0" "30" "17" "57771081" "57771081" "subst" "0" "01804" "CLTC_000061" "g.57771081T>C" "" "" "" "CLTC(NM_004859.4):c.4904-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046890" "0" "70" "17" "57762497" "57762497" "del" "0" "03544" "CLTC_000062" "g.57762497del" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.59685136del" "" "pathogenic" "ACMG" "0001056110" "0" "50" "17" "57724876" "57724876" "subst" "4.06405E-6" "01804" "CLTC_000063" "g.57724876C>T" "" "" "" "CLTC(NM_004859.4):c.368C>T (p.(Thr123Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056111" "0" "50" "17" "57758283" "57758283" "subst" "0" "01804" "CLTC_000064" "g.57758283C>T" "" "" "" "CLTC(NM_004859.4):c.2930C>T (p.(Thr977Ile))" "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 CLTC ## Count = 73 "{{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}}" "0000270303" "00005342" "50" "1647" "0" "1647" "0" "c.1647T>G" "r.(?)" "p.(Ile549Met)" "" "0000325523" "00005342" "50" "2669" "0" "2669" "0" "c.2669C>T" "r.(?)" "p.(Pro890Leu)" "" "0000325524" "00005342" "50" "8815" "0" "8815" "0" "c.*3787G>C" "r.(=)" "p.(=)" "" "0000339084" "00005342" "50" "1618" "0" "1618" "0" "c.1618G>T" "r.(?)" "p.(Glu540Ter)" "" "0000344571" "00005342" "50" "4615" "0" "4615" "0" "c.4615C>T" "r.(?)" "p.(Gln1539Ter)" "" "0000344991" "00005342" "50" "8901" "0" "8901" "0" "c.*3873T>G" "r.(=)" "p.(=)" "" "0000345026" "00005342" "50" "8863" "0" "8863" "0" "c.*3835G>A" "r.(=)" "p.(=)" "" "0000348606" "00005342" "90" "2669" "0" "2669" "0" "c.2669C>T" "r.(?)" "p.(Pro890Leu)" "" "0000562483" "00005342" "50" "369" "0" "369" "0" "c.369G>A" "r.(?)" "p.(Thr123=)" "" "0000562484" "00005342" "90" "1226" "0" "1226" "0" "c.1226del" "r.(?)" "p.(Gly409ValfsTer25)" "" "0000562485" "00005342" "70" "2272" "0" "2272" "0" "c.2272C>T" "r.(?)" "p.(Arg758Ter)" "" "0000562487" "00005342" "70" "3766" "-2" "3766" "-2" "c.3766-2A>G" "r.spl?" "p.?" "" "0000562488" "00005342" "30" "4688" "0" "4688" "0" "c.4688G>A" "r.(?)" "p.(Arg1563Lys)" "" "0000562489" "00005342" "90" "4716" "0" "4717" "0" "c.4716_4717del" "r.(?)" "p.(Cys1573LeufsTer39)" "" "0000616717" "00005342" "50" "3249" "1" "3249" "2" "c.3249+1_3249+2dup" "r.spl?" "p.?" "" "0000616718" "00005342" "50" "3841" "0" "3841" "0" "c.3841G>C" "r.(?)" "p.(Asp1281His)" "" "0000623728" "00005342" "50" "326" "0" "326" "0" "c.326C>A" "r.(?)" "p.(Thr109Asn)" "" "0000623729" "00005342" "50" "4255" "0" "4255" "0" "c.4255T>G" "r.(?)" "p.(Leu1419Val)" "" "0000667605" "00005342" "70" "2737" "0" "2738" "0" "c.2737_2738dup" "r.(?)" "p.(Asp913Glufs*59)" "" "0000670365" "00005342" "90" "4400" "0" "4401" "0" "c.4400_4401del" "r.(?)" "p.(Leu1467*)" "" "0000680942" "00005342" "50" "3331" "0" "3331" "0" "c.3331C>T" "r.(?)" "p.(Leu1111Phe)" "" "0000692415" "00005342" "30" "4493" "0" "4493" "0" "c.4493G>A" "r.(?)" "p.(Arg1498His)" "" "0000692416" "00005342" "30" "4493" "0" "4493" "0" "c.4493G>A" "r.(?)" "p.(Arg1498His)" "" "0000726547" "00005342" "50" "2822" "0" "2822" "0" "c.2822A>C" "r.(?)" "p.(Lys941Thr)" "" "0000726548" "00005342" "90" "3975" "0" "3975" "0" "c.3975dup" "r.(?)" "p.(Lys1326*)" "" "0000726549" "00005342" "50" "8638" "0" "8638" "0" "c.*3610T>G" "r.(=)" "p.(=)" "" "0000726550" "00005342" "70" "8644" "0" "8644" "0" "c.*3616del" "r.(?)" "p.(=)" "" "0000726551" "00005342" "90" "8885" "0" "8886" "0" "c.*3857_*3858del" "r.(=)" "p.(=)" "" "0000726552" "00005342" "30" "9094" "0" "9094" "0" "c.*4066C>T" "r.(=)" "p.(=)" "" "0000808148" "00005342" "30" "1368" "5" "1368" "5" "c.1368+5G>A" "r.spl?" "p.?" "" "0000855023" "00005342" "90" "1274" "0" "1287" "0" "c.1274_1287del" "r.(?)" "p.(Gly425Valfs*8)" "" "0000855024" "00005342" "90" "3073" "0" "3073" "0" "c.3073C>T" "r.(?)" "p.(Gln1025*)" "" "0000855025" "00005342" "30" "9104" "0" "9104" "0" "c.*4076G>A" "r.(=)" "p.(=)" "" "0000872398" "00005342" "70" "3937" "0" "3937" "0" "c.3937C>G" "r.(?)" "p.(His1313Asp)" "" "0000877444" "00005342" "50" "3937" "0" "3937" "0" "c.3937C>G" "r.(?)" "p.(His1313Asp)" "" "0000894072" "00005342" "50" "1745" "0" "1745" "0" "c.1745C>T" "r.(?)" "p.(Thr582Met)" "" "0000914919" "00005342" "70" "2966" "0" "2969" "0" "c.2966_2969del" "r.(?)" "p.(Ser989*)" "" "0000914920" "00005342" "30" "3902" "0" "3902" "0" "c.3902C>T" "r.(?)" "p.(Thr1301Ile)" "" "0000914921" "00005342" "50" "4559" "0" "4559" "0" "c.4559G>T" "r.(?)" "p.(Arg1520Leu)" "" "0000914922" "00005342" "50" "4702" "0" "4702" "0" "c.4702G>C" "r.(?)" "p.(Ala1568Pro)" "" "0000918225" "00005342" "70" "3779" "0" "3779" "0" "c.3779G>A" "r.(?)" "p.(Cys1260Tyr)" "" "0000926587" "00005342" "30" "1368" "4" "1368" "4" "c.1368+4C>T" "r.spl?" "p.?" "" "0000930835" "00005342" "50" "245" "0" "245" "0" "c.245T>C" "r.(?)" "p.(Leu82Pro)" "" "0000930836" "00005342" "90" "798" "0" "798" "0" "c.798del" "r.(?)" "p.(Ser267Valfs*9)" "" "0000936243" "00005342" "90" "4575" "0" "4575" "0" "c.4575dup" "r.(?)" "p.(Glu1526Argfs*18)" "" "0000936532" "00005342" "90" "977" "0" "980" "0" "c.977_980del" "r.(?)" "p.(Ser326Cysfs*8)" "" "0000936533" "00005342" "70" "1660" "0" "1668" "0" "c.1660_1668del" "r.(?)" "p.(Met554_Tyr556del)" "" "0000936534" "00005342" "70" "2669" "0" "2669" "0" "c.2669C>T" "r.(?)" "p.(Pro890Leu)" "" "0000936535" "00005342" "70" "2669" "0" "2669" "0" "c.2669C>T" "r.(?)" "p.(Pro890Leu)" "" "0000936536" "00005342" "70" "2669" "0" "2669" "0" "c.2669C>T" "r.(?)" "p.(Pro890Leu)" "" "0000936538" "00005342" "70" "3140" "0" "3140" "0" "c.3140T>C" "r.(?)" "p.(Leu1047Pro)" "" "0000936539" "00005342" "90" "3595" "0" "3595" "0" "c.3595C>T" "r.(?)" "p.(Gln1199*)" "" "0000936540" "00005342" "70" "3322" "0" "3322" "0" "c.3322T>C" "r.(?)" "p.(Trp1108Arg)" "" "0000936541" "00005342" "70" "3621" "0" "3623" "0" "c.3621_3623del" "r.(?)" "p.(Asp1207del)" "" "0000936542" "00005342" "70" "4605" "2" "4605" "2" "c.4605+2T>C" "r.spl" "p.?" "" "0000936543" "00005342" "90" "4663" "0" "4663" "0" "c.4663C>T" "r.(?)" "p.(Gln1555*)" "" "0000936544" "00005342" "90" "4667" "0" "4667" "0" "c.4667G>A" "r.(?)" "p.(Trp1556*)" "" "0000950970" "00005342" "50" "3200" "0" "3200" "0" "c.3200A>C" "r.(?)" "p.(Glu1067Ala)" "" "0000982661" "00005342" "30" "42" "4" "42" "4" "c.42+4C>A" "r.spl?" "p.?" "" "0000982662" "00005342" "30" "796" "-4" "796" "-4" "c.796-4G>A" "r.spl?" "p.?" "" "0000982663" "00005342" "30" "877" "0" "877" "0" "c.877A>G" "r.(?)" "p.(Ile293Val)" "" "0000982664" "00005342" "50" "4435" "-343" "4435" "-343" "c.4435-343G>A" "r.(=)" "p.(=)" "" "0000989200" "00005342" "90" "3825" "0" "3826" "0" "c.3825_3826delinsAAT" "r.(?)" "p.(His1275Glnfs*8)" "" "0001003460" "00005342" "50" "3698" "0" "3698" "0" "c.3698A>T" "r.(?)" "p.(His1233Leu)" "" "0001022083" "00005342" "70" "369" "0" "369" "0" "c.369G>A" "r.[251_370del,=]" "p.[Ala84_Thr123del,=]" "3" "0001026996" "00005342" "50" "1177" "0" "1177" "0" "c.1177C>T" "r.(?)" "p.(Arg393Cys)" "" "0001042028" "00005342" "50" "175" "0" "175" "0" "c.175A>G" "r.(?)" "p.(Ser59Gly)" "" "0001042029" "00005342" "50" "1162" "0" "1162" "0" "c.1162C>T" "r.(?)" "p.(Pro388Ser)" "" "0001042030" "00005342" "30" "4870" "0" "4872" "0" "c.4870_4872del" "r.(?)" "p.(Glu1624del)" "" "0001042031" "00005342" "30" "4904" "-8" "4904" "-8" "c.4904-8T>C" "r.(=)" "p.(=)" "" "0001046890" "00005342" "70" "4515" "0" "4515" "0" "c.4515del" "r.(?)" "p.(Ile1505Metfs*21)" "29" "0001056110" "00005342" "50" "368" "0" "368" "0" "c.368C>T" "r.(?)" "p.(Thr123Met)" "" "0001056111" "00005342" "50" "2930" "0" "2930" "0" "c.2930C>T" "r.(?)" "p.(Thr977Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000304192" "0000667605" "0000306653" "0000670365" "0000432668" "0000918225" "0000440085" "0000936243" "0000440224" "0000936532" "0000440225" "0000936533" "0000440226" "0000936534" "0000440227" "0000936535" "0000440228" "0000936536" "0000440230" "0000936538" "0000440231" "0000936539" "0000440232" "0000936540" "0000440233" "0000936541" "0000440234" "0000936542" "0000440235" "0000936543" "0000440236" "0000936544" "0000454395" "0000989200" "0000462556" "0001022083" "0000467687" "0001046890"