### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CCT5) # 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}}" "CCT5" "chaperonin containing TCP1, subunit 5 (epsilon)" "5" "p15.2" "unknown" "NG_012160.1" "UD_132085349667" "" "https://www.LOVD.nl/CCT5" "Inherited Peripheral Neuropathies database " "1" "1618" "22948" "610150" "1" "1" "1" "1" "This database is one of the gene variant databases from the:\r\nVariants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. All variants submitted here will be shared with the IPNMDB." "" "g" "https://databases.lovd.nl/shared/refseq/CCT5_codingDNA.html" "1" "" "This database is one of the gene variant databases from the \"Leiden Muscular Dystrophy pages\" (LMDp)" "-1" "" "-1" "00001" "2012-03-23 00:00:00" "00006" "2019-10-12 18:54:30" "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}}" "00004666" "CCT5" "chaperonin containing TCP1, subunit 5 (epsilon)" "001" "NM_012073.3" "" "NP_036205.1" "" "" "" "-171" "3232" "1626" "10250282" "10266501" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01972" "neuropathy (CCT5)" "neuropathy, sensory, with spastic paraplegia, hereditary, autosomal recessive" "AR" "256840" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CCT5" "01972" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00078903" "" "" "" "133" "" "00006" "{PMID:Bouhouche 2006:16399879}" "4-generation family, 4 affected brothers" "M" "yes" "Morocco" "" "0" "" "" "" "" "00078904" "" "" "" "134" "" "00006" "{PMID:Bouhouche 2006:16399879}" "4-generation family, 5 unaffected carriers" "" "yes" "Morocco" "" "0" "" "" "" "" "00108467" "" "" "" "1" "" "01239" "{PMID:Hendee 2017:28722276}, {DOI:Hendee 2017:10.1002/humu.23299}" "3-generation family, 10 affecteds (6F, 4M), PatIII3" "M" "" "United States" "" "0" "" "" "white" "28722276-FamPatIII3" "00207795" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00293685" "" "" "" "246" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00078903" "00198" "00078904" "00000" "00108467" "00198" "00293685" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 01972 ## Count = 4 "{{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}}" "0000058659" "00198" "00078903" "00006" "Familial, autosomal recessive" "" "neuropathy, hereditary sensory, with spastic paraplegia; spastic paraplegia, progressive sensory loss, mutilating acropathy involving both upper/lower limbs; MRI severe atrophy spinal cord predominantly posterior tract" "" "" "early infancy" "" "" "" "" "" "" "" "" "0000058660" "00000" "00078904" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086063" "00198" "00108467" "01239" "Familial, autosomal dominant" "" "Congenital glaucoma\r\nAxenfeld-Rieger anomaly\r\nmyopia\r\nsensorineural hearing loss\r\ncongenital hypothyroidism\r\narterial tortuosity\r\nmicrocephaly\r\ndelayed eruption of permanent teeth\r\nfemoral retroversion" "" "" "" "" "" "" "" "" "" "" "" "0000155578" "00198" "00207795" "01164" "Unknown" "" "HP:0002527 (Falls); HP:0001288 (Gait disturbance); HP:0000762 (Decreased nerve conduction velocity); HP:0009130 (Hand muscle atrophy); HP:0003394 (Muscle cramps); HP:0001436 (Abnormality of the foot musculature); HP:0007010 (Poor fine motor coordination)" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000079089" "00078903" "1" "00006" "00006" "2012-10-26 11:36:17" "" "" "SEQ" "DNA" "" "" "0000079090" "00078904" "1" "00006" "00006" "2012-10-26 11:36:17" "" "" "SEQ" "DNA" "" "" "0000108935" "00108467" "1" "01239" "01239" "2017-07-24 23:44:33" "00006" "2017-07-29 21:50:15" "PCR;SEQ" "DNA" "" "WES" "0000208836" "00207795" "1" "01164" "01164" "2018-11-30 14:41:29" "" "" "SEQ-NG" "DNA" "" "" "0000294853" "00293685" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000079089" "CCT5" "0000079090" "CCT5" "0000108935" "ADAMTSL1" ## 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 = 54 "{{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}}" "0000126821" "3" "90" "5" "10256175" "10256175" "subst" "0.000109676" "00006" "CCT5_000001" "g.10256175A>G" "" "{PMID:Bouhouche 2006:16399879}, {OMIM610150:0001}" "" "" "not in 384 control chromosomes" "Germline" "" "" "0" "" "" "g.10256063A>G" "" "pathogenic" "" "0000126822" "11" "90" "5" "10256175" "10256175" "subst" "0.000109676" "00006" "CCT5_000001" "g.10256175A>G" "" "{PMID:Bouhouche 2006:16399879}, {OMIM610150:0001}" "" "" "not in 384 control chromosomes" "Germline" "" "" "0" "" "" "g.10256063A>G" "" "pathogenic" "" "0000177867" "21" "90" "5" "10263402" "10263402" "subst" "4.4876E-5" "00006" "CCT5_000002" "g.10263402G>C" "" "{PMID:Hendee 2017:28722276}, {DOI:Hendee 2017:10.1002/humu.23299}" "" "" "variant not associated with phenotype" "Germline" "yes" "" "0" "" "" "g.10263290G>C" "" "pathogenic" "" "0000246320" "0" "10" "5" "10254817" "10254817" "subst" "0.799325" "02330" "CCT5_000006" "g.10254817A>G" "" "" "" "CCT5(NM_001306156.2):c.84A>G (p.G28=), CCT5(NM_012073.5):c.198A>G (p.G66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10254705A>G" "" "benign" "" "0000246345" "0" "10" "5" "10256172" "10256172" "subst" "0.0231333" "02330" "CCT5_000019" "g.10256172A>T" "" "" "" "CCT5(NM_001306154.2):c.272A>T (p.E91V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10256060A>T" "" "benign" "" "0000246354" "0" "10" "5" "10264962" "10264962" "subst" "0" "02330" "CCT5_000012" "g.10264962A>G" "" "" "" "CCT5(NM_012073.5):c.*67A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10264850A>G" "" "benign" "" "0000246355" "0" "10" "5" "10265278" "10265278" "subst" "0" "02330" "CCT5_000020" "g.10265278A>G" "" "" "" "CCT5(NM_012073.5):c.*383A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10265166A>G" "" "benign" "" "0000246356" "0" "10" "5" "10265488" "10265488" "subst" "0" "02330" "CCT5_000016" "g.10265488A>G" "" "" "" "CCT5(NM_012073.5):c.*593A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10265376A>G" "" "benign" "" "0000248361" "0" "10" "5" "10254817" "10254817" "subst" "0.799325" "02325" "CCT5_000006" "g.10254817A>G" "" "" "" "CCT5(NM_001306156.2):c.84A>G (p.G28=), CCT5(NM_012073.5):c.198A>G (p.G66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10254705A>G" "" "benign" "" "0000254504" "0" "30" "5" "10256210" "10256210" "subst" "1.21999E-5" "01943" "CCT5_000008" "g.10256210A>C" "" "" "" "CCT5(NM_012073.3):c.475A>C (p.I159L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10256098A>C" "" "likely benign" "" "0000264382" "0" "10" "5" "10250443" "10250443" "subst" "0.799163" "02330" "CCT5_000004" "g.10250443T>C" "" "" "" "CCT5(NM_012073.5):c.-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10250331T>C" "" "benign" "" "0000264383" "0" "10" "5" "10250430" "10250430" "subst" "0.79895" "02330" "CCT5_000003" "g.10250430G>A" "" "" "" "CCT5(NM_012073.5):c.-23G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10250318G>A" "" "benign" "" "0000264384" "0" "10" "5" "10266067" "10266067" "subst" "0" "02330" "CCT5_000018" "g.10266067G>T" "" "" "" "CCT5(NM_012073.5):c.*1172G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10265955G>T" "" "benign" "" "0000264385" "0" "10" "5" "10265076" "10265076" "subst" "0" "02330" "CCT5_000013" "g.10265076C>T" "" "" "" "CCT5(NM_012073.5):c.*181C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10264964C>T" "" "benign" "" "0000264386" "0" "10" "5" "10265277" "10265277" "subst" "0" "02330" "CCT5_000014" "g.10265277C>T" "" "" "" "CCT5(NM_012073.5):c.*382C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10265165C>T" "" "benign" "" "0000264387" "0" "10" "5" "10265462" "10265462" "subst" "0" "02330" "CCT5_000015" "g.10265462G>A" "" "" "" "CCT5(NM_012073.5):c.*567G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10265350G>A" "" "benign" "" "0000264388" "0" "10" "5" "10265719" "10265719" "subst" "0" "02330" "CCT5_000017" "g.10265719C>G" "" "" "" "CCT5(NM_012073.5):c.*824C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10265607C>G" "" "benign" "" "0000264389" "0" "10" "5" "10262607" "10262607" "subst" "0.0019412" "02330" "CCT5_000010" "g.10262607G>A" "" "" "" "CCT5(NM_001306154.1):c.1029G>A (p.A343=), CCT5(NM_001306154.2):c.1029G>A (p.A343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10262495G>A" "" "benign" "" "0000264390" "0" "10" "5" "10262740" "10262740" "subst" "0.799276" "02330" "CCT5_000011" "g.10262740C>A" "" "" "" "CCT5(NM_001306154.2):c.1152+10C>A, CCT5(NM_012073.5):c.1317+10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10262628C>A" "" "benign" "" "0000264391" "0" "10" "5" "10256161" "10256161" "subst" "0.804365" "02330" "CCT5_000007" "g.10256161T>C" "" "" "" "CCT5(NM_012073.5):c.426T>C (p.R142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10256049T>C" "" "benign" "" "0000264392" "0" "10" "5" "10258512" "10258512" "subst" "0.0275546" "02330" "CCT5_000009" "g.10258512G>A" "" "" "" "CCT5(NM_001306154.2):c.573G>A (p.A191=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10258400G>A" "" "benign" "" "0000264393" "0" "50" "5" "10250538" "10250538" "subst" "0.000154572" "02330" "CCT5_000005" "g.10250538T>C" "" "" "" "CCT5(NM_001306154.2):c.86T>C (p.M29T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10250426T>C" "" "VUS" "" "0000266559" "0" "10" "5" "10250443" "10250443" "subst" "0.799163" "02325" "CCT5_000004" "g.10250443T>C" "" "" "" "CCT5(NM_012073.5):c.-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10250331T>C" "" "benign" "" "0000266560" "0" "10" "5" "10250430" "10250430" "subst" "0.79895" "02325" "CCT5_000003" "g.10250430G>A" "" "" "" "CCT5(NM_012073.5):c.-23G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10250318G>A" "" "benign" "" "0000266561" "0" "10" "5" "10262740" "10262740" "subst" "0.799276" "02325" "CCT5_000011" "g.10262740C>A" "" "" "" "CCT5(NM_001306154.2):c.1152+10C>A, CCT5(NM_012073.5):c.1317+10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10262628C>A" "" "benign" "" "0000266562" "0" "10" "5" "10256161" "10256161" "subst" "0.804365" "02325" "CCT5_000007" "g.10256161T>C" "" "" "" "CCT5(NM_012073.5):c.426T>C (p.R142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10256049T>C" "" "benign" "" "0000339227" "0" "10" "5" "10256161" "10256161" "subst" "0.804365" "02327" "CCT5_000007" "g.10256161T>C" "" "" "" "CCT5(NM_012073.5):c.426T>C (p.R142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10256049T>C" "" "benign" "" "0000438824" "0" "50" "5" "10258522" "10258522" "subst" "3.24876E-5" "01164" "CCT5_000021" "g.10258522A>G" "" "" "" "" "ACMG grading: PP3,PM2; patient has 2 compund heterozygous missesne VUS in SIGMAR1" "Germline" "" "rs200819422" "0" "" "" "g.10258410A>G" "" "VUS" "ACMG" "0000523622" "0" "10" "5" "10250132" "10250132" "subst" "0.00186737" "01943" "CCT5_000022" "g.10250132G>A" "" "" "" "CCT5(NM_001306153.1):c.17G>A (p.G6E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10250020G>A" "" "benign" "" "0000523623" "0" "50" "5" "10254788" "10254788" "subst" "1.21972E-5" "02330" "CCT5_000023" "g.10254788C>T" "" "" "" "CCT5(NM_001306156.2):c.55C>T (p.L19F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10254676C>T" "" "VUS" "" "0000523624" "0" "50" "5" "10254879" "10254879" "subst" "0" "01943" "CCT5_000024" "g.10254879T>C" "" "" "" "CCT5(NM_001306156.1):c.146T>C (p.I49T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10254767T>C" "" "VUS" "" "0000523625" "0" "10" "5" "10256049" "10256049" "subst" "0.0183724" "02330" "CCT5_000025" "g.10256049C>G" "" "" "" "CCT5(NM_001306154.2):c.167-18C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10255937C>G" "" "benign" "" "0000523627" "0" "30" "5" "10260888" "10260888" "subst" "0.00200247" "02330" "CCT5_000026" "g.10260888G>T" "" "" "" "CCT5(NM_001306154.2):c.709-16G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10260776G>T" "" "likely benign" "" "0000523628" "0" "50" "5" "10261748" "10261748" "subst" "0.000617294" "01943" "CCT5_000027" "g.10261748G>A" "" "" "" "CCT5(NM_001306154.1):c.905G>A (p.G302D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10261636G>A" "" "VUS" "" "0000523629" "0" "30" "5" "10261764" "10261764" "subst" "0.00607112" "02330" "CCT5_000028" "g.10261764C>G" "" "" "" "CCT5(NM_001306154.2):c.921C>G (p.I307M), CCT5(NM_012073.3):c.1086C>G (p.(Ile362Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10261652C>G" "" "likely benign" "" "0000523630" "0" "50" "5" "10261828" "10261828" "subst" "0" "01943" "CCT5_000029" "g.10261828A>G" "" "" "" "CCT5(NM_001306154.1):c.985A>G (p.T329A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10261716A>G" "" "VUS" "" "0000523631" "0" "10" "5" "10262607" "10262607" "subst" "0.0019412" "01943" "CCT5_000010" "g.10262607G>A" "" "" "" "CCT5(NM_001306154.1):c.1029G>A (p.A343=), CCT5(NM_001306154.2):c.1029G>A (p.A343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10262495G>A" "" "benign" "" "0000609356" "0" "50" "5" "10260920" "10260920" "subst" "4.06095E-6" "02330" "CCT5_000031" "g.10260920C>T" "" "" "" "CCT5(NM_001306154.2):c.725C>T (p.A242V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10260808C>T" "" "VUS" "" "0000609357" "0" "10" "5" "10261737" "10261737" "subst" "0.00066195" "02330" "CCT5_000032" "g.10261737G>A" "" "" "" "CCT5(NM_001306154.1):c.894G>A (p.L298=), CCT5(NM_001306154.2):c.894G>A (p.L298=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10261625G>A" "" "benign" "" "0000609358" "0" "30" "5" "10261737" "10261737" "subst" "0.00066195" "02326" "CCT5_000032" "g.10261737G>A" "" "" "" "CCT5(NM_001306154.1):c.894G>A (p.L298=), CCT5(NM_001306154.2):c.894G>A (p.L298=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10261625G>A" "" "likely benign" "" "0000609359" "0" "30" "5" "10261764" "10261764" "subst" "0.00607112" "01804" "CCT5_000028" "g.10261764C>G" "" "" "" "CCT5(NM_001306154.2):c.921C>G (p.I307M), CCT5(NM_012073.3):c.1086C>G (p.(Ile362Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10261652C>G" "" "likely benign" "" "0000621438" "0" "30" "5" "10258382" "10258382" "subst" "4.062E-6" "02330" "CCT5_000030" "g.10258382G>A" "" "" "" "CCT5(NM_001306154.2):c.525G>A (p.V175=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10258270G>A" "" "likely benign" "" "0000651542" "1" "30" "5" "10256172" "10256172" "subst" "0.0231333" "03575" "CCT5_000019" "g.10256172A>T" "246/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "246 heterozygous, no homozygous; {DB:CLININrs11557652}" "Germline" "" "rs11557652" "0" "" "" "g.10256060A>T" "" "likely benign" "" "0000655214" "0" "30" "5" "10254964" "10254964" "subst" "0.00191783" "02330" "CCT5_000033" "g.10254964A>T" "" "" "" "CCT5(NM_001306154.2):c.166+647A>T, CCT5(NM_012073.3):c.331+14A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10254852A>T" "" "likely benign" "" "0000655215" "0" "30" "5" "10256137" "10256137" "subst" "1.21842E-5" "02330" "CCT5_000034" "g.10256137C>T" "" "" "" "CCT5(NM_001306154.2):c.237C>T (p.A79=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10256025C>T" "" "likely benign" "" "0000720061" "0" "30" "5" "10258220" "10258220" "subst" "7.7195E-5" "02330" "CCT5_000036" "g.10258220C>T" "" "" "" "CCT5(NM_001306154.2):c.366-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801767" "0" "30" "5" "10256251" "10256251" "subst" "4.50244E-5" "01943" "CCT5_000037" "g.10256251G>A" "" "" "" "CCT5(NM_001306154.1):c.351G>A (p.T117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801768" "0" "30" "5" "10258533" "10258533" "subst" "1.21833E-5" "01943" "CCT5_000038" "g.10258533T>C" "" "" "" "CCT5(NM_001306154.1):c.594T>C (p.C198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850699" "0" "30" "5" "10256095" "10256095" "subst" "6.4992E-5" "02330" "CCT5_000039" "g.10256095G>A" "" "" "" "CCT5(NM_001306154.2):c.195G>A (p.A65=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886474" "0" "30" "5" "10254964" "10254964" "subst" "0.00191783" "02326" "CCT5_000033" "g.10254964A>T" "" "" "" "CCT5(NM_001306154.2):c.166+647A>T, CCT5(NM_012073.3):c.331+14A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886475" "0" "50" "5" "10256159" "10256159" "subst" "7.71693E-5" "02330" "CCT5_000040" "g.10256159C>T" "" "" "" "CCT5(NM_001306154.2):c.259C>T (p.R87C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886476" "0" "30" "5" "10258527" "10258527" "subst" "4.46711E-5" "02326" "CCT5_000041" "g.10258527C>T" "" "" "" "CCT5(NM_012073.3):c.753C>T (p.L251=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994516" "0" "30" "5" "10262670" "10262670" "subst" "0" "02330" "CCT5_000042" "g.10262670G>T" "" "" "" "CCT5(NM_001306156.2):c.1143G>T (p.V381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034759" "0" "50" "5" "10262656" "10262656" "subst" "2.43653E-5" "02325" "CCT5_000043" "g.10262656G>A" "" "" "" "CCT5(NM_012073.5):c.1243G>A (p.D415N)" "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 CCT5 ## Count = 54 "{{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}}" "0000126821" "00004666" "90" "440" "0" "440" "0" "c.440A>G" "r.(?)" "p.(His147Arg)" "4" "0000126822" "00004666" "90" "440" "0" "440" "0" "c.440A>G" "r.(?)" "p.(His147Arg)" "4" "0000177867" "00004666" "90" "1474" "0" "1474" "0" "c.1474G>C" "r.(?)" "p.(Asp492His)" "10" "0000246320" "00004666" "10" "198" "0" "198" "0" "c.198A>G" "r.(?)" "p.(Gly66=)" "" "0000246345" "00004666" "10" "437" "0" "437" "0" "c.437A>T" "r.(?)" "p.(Glu146Val)" "" "0000246354" "00004666" "10" "1693" "0" "1693" "0" "c.*67A>G" "r.(=)" "p.(=)" "" "0000246355" "00004666" "10" "2009" "0" "2009" "0" "c.*383A>G" "r.(=)" "p.(=)" "" "0000246356" "00004666" "10" "2219" "0" "2219" "0" "c.*593A>G" "r.(=)" "p.(=)" "" "0000248361" "00004666" "10" "198" "0" "198" "0" "c.198A>G" "r.(?)" "p.(Gly66=)" "" "0000254504" "00004666" "30" "475" "0" "475" "0" "c.475A>C" "r.(?)" "p.(Ile159Leu)" "" "0000264382" "00004666" "10" "-10" "0" "-10" "0" "c.-10T>C" "r.(?)" "p.(=)" "" "0000264383" "00004666" "10" "-23" "0" "-23" "0" "c.-23G>A" "r.(?)" "p.(=)" "" "0000264384" "00004666" "10" "2798" "0" "2798" "0" "c.*1172G>T" "r.(=)" "p.(=)" "" "0000264385" "00004666" "10" "1807" "0" "1807" "0" "c.*181C>T" "r.(=)" "p.(=)" "" "0000264386" "00004666" "10" "2008" "0" "2008" "0" "c.*382C>T" "r.(=)" "p.(=)" "" "0000264387" "00004666" "10" "2193" "0" "2193" "0" "c.*567G>A" "r.(=)" "p.(=)" "" "0000264388" "00004666" "10" "2450" "0" "2450" "0" "c.*824C>G" "r.(=)" "p.(=)" "" "0000264389" "00004666" "10" "1194" "0" "1194" "0" "c.1194G>A" "r.(?)" "p.(Ala398=)" "" "0000264390" "00004666" "10" "1317" "10" "1317" "10" "c.1317+10C>A" "r.(=)" "p.(=)" "" "0000264391" "00004666" "10" "426" "0" "426" "0" "c.426T>C" "r.(?)" "p.(Arg142=)" "" "0000264392" "00004666" "10" "738" "0" "738" "0" "c.738G>A" "r.(?)" "p.(Ala246=)" "" "0000264393" "00004666" "50" "86" "0" "86" "0" "c.86T>C" "r.(?)" "p.(Met29Thr)" "" "0000266559" "00004666" "10" "-10" "0" "-10" "0" "c.-10T>C" "r.(?)" "p.(=)" "" "0000266560" "00004666" "10" "-23" "0" "-23" "0" "c.-23G>A" "r.(?)" "p.(=)" "" "0000266561" "00004666" "10" "1317" "10" "1317" "10" "c.1317+10C>A" "r.(=)" "p.(=)" "" "0000266562" "00004666" "10" "426" "0" "426" "0" "c.426T>C" "r.(?)" "p.(Arg142=)" "" "0000339227" "00004666" "10" "426" "0" "426" "0" "c.426T>C" "r.(?)" "p.(Arg142=)" "" "0000438824" "00004666" "50" "748" "0" "748" "0" "c.748A>G" "r.(?)" "p.Ile250Val" "" "0000523622" "00004666" "10" "-321" "0" "-321" "0" "c.-321G>A" "r.(?)" "p.(=)" "" "0000523623" "00004666" "50" "169" "0" "169" "0" "c.169C>T" "r.(?)" "p.(Leu57Phe)" "" "0000523624" "00004666" "50" "260" "0" "260" "0" "c.260T>C" "r.(?)" "p.(Ile87Thr)" "" "0000523625" "00004666" "10" "332" "-18" "332" "-18" "c.332-18C>G" "r.(=)" "p.(=)" "" "0000523627" "00004666" "30" "874" "-16" "874" "-16" "c.874-16G>T" "r.(=)" "p.(=)" "" "0000523628" "00004666" "50" "1070" "0" "1070" "0" "c.1070G>A" "r.(?)" "p.(Gly357Asp)" "" "0000523629" "00004666" "30" "1086" "0" "1086" "0" "c.1086C>G" "r.(?)" "p.(Ile362Met)" "" "0000523630" "00004666" "50" "1150" "0" "1150" "0" "c.1150A>G" "r.(?)" "p.(Thr384Ala)" "" "0000523631" "00004666" "10" "1194" "0" "1194" "0" "c.1194G>A" "r.(?)" "p.(Ala398=)" "" "0000609356" "00004666" "50" "890" "0" "890" "0" "c.890C>T" "r.(?)" "p.(Ala297Val)" "" "0000609357" "00004666" "10" "1059" "0" "1059" "0" "c.1059G>A" "r.(?)" "p.(Leu353=)" "" "0000609358" "00004666" "30" "1059" "0" "1059" "0" "c.1059G>A" "r.(?)" "p.(Leu353=)" "" "0000609359" "00004666" "30" "1086" "0" "1086" "0" "c.1086C>G" "r.(?)" "p.(Ile362Met)" "" "0000621438" "00004666" "30" "690" "0" "690" "0" "c.690G>A" "r.(?)" "p.(Val230=)" "" "0000651542" "00004666" "30" "437" "0" "437" "0" "c.437A>T" "r.(?)" "p.(Glu146Val)" "" "0000655214" "00004666" "30" "331" "14" "331" "14" "c.331+14A>T" "r.(=)" "p.(=)" "" "0000655215" "00004666" "30" "402" "0" "402" "0" "c.402C>T" "r.(?)" "p.(Ala134=)" "" "0000720061" "00004666" "30" "531" "-3" "531" "-3" "c.531-3C>T" "r.spl?" "p.?" "" "0000801767" "00004666" "30" "516" "0" "516" "0" "c.516G>A" "r.(?)" "p.(Thr172=)" "" "0000801768" "00004666" "30" "759" "0" "759" "0" "c.759T>C" "r.(?)" "p.(Cys253=)" "" "0000850699" "00004666" "30" "360" "0" "360" "0" "c.360G>A" "r.(?)" "p.(Ala120=)" "" "0000886474" "00004666" "30" "331" "14" "331" "14" "c.331+14A>T" "r.(=)" "p.(=)" "" "0000886475" "00004666" "50" "424" "0" "424" "0" "c.424C>T" "r.(?)" "p.(Arg142Cys)" "" "0000886476" "00004666" "30" "753" "0" "753" "0" "c.753C>T" "r.(?)" "p.(Leu251=)" "" "0000994516" "00004666" "30" "1257" "0" "1257" "0" "c.1257G>T" "r.(?)" "p.(=)" "" "0001034759" "00004666" "50" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Asp415Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000079089" "0000126821" "0000079090" "0000126822" "0000108935" "0000177867" "0000208836" "0000438824" "0000294853" "0000651542"