### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CAPN5) # 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}}" "CAPN5" "calpain 5" "11" "q14" "unknown" "NG_033002.1" "UD_132610910672" "" "https://www.LOVD.nl/CAPN5" "" "1" "1482" "726" "602537" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/CAPN5_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00000" "2013-02-11 00:00:00" "00006" "2020-11-12 11:41:37" "00000" "2025-02-07 18:57:27" ## 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}}" "00001467" "CAPN5" "calpain 5" "001" "NM_004055.4" "" "NP_004046.2" "" "" "" "-185" "4208" "1923" "76777992" "76837201" "00000" "2012-09-13 13:34:42" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01602" "VRNI" "vitreoretinopathy, neovascular inflammatory (VRNI)" "AD" "193235" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-11-12 11:40:54" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CAPN5" "01602" ## Individuals ## Do not remove or alter this header ## ## Count = 23 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00290534" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00328423" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "690926" "00328424" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "690734" "00328425" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "690988" "00328426" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "680820" "00334452" "" "" "" "1" "" "00000" "{PMID:Huang 2017:28512305}" "patient" "" "" "China" "" "0" "" "" "" "RP-107" "00334453" "" "" "" "1" "" "00000" "{PMID:Huang 2017:28512305}" "patient" "" "" "China" "" "0" "" "" "" "RP-078" "00363329" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM666" "00372626" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP295" "00372640" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "M" "" "China" "" "0" "" "" "" "RP316" "00372716" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP255" "00372751" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP388" "00379436" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379437" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379438" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379439" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00386886" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI1319_002468" "00428740" "" "" "" "61" "" "00006" "{PMID:Mahajan 2012:23055945}" "7-generation family, 61 affected (36F, 25M)" "F;M" "no" "United States" "" "0" "" "" "" "FamADNIV1" "00428742" "" "" "" "7" "" "00006" "{PMID:Mahajan 2012:23055945}" "4-generation family, 7 affected (3F, 4M)" "F;M" "no" "United States" "" "0" "" "" "" "FamADNIV2" "00428743" "" "" "" "31" "" "00006" "{PMID:Mahajan 2012:23055945}" "4-generation family, 31 affected (18F, 13M)" "F;M" "no" "United States" "" "0" "" "" "" "FamADNIV2" "00447014" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "ARRP-482" "00447200" "" "" "" "4" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, >3 affected" "F" "" "Germany" "" "0" "" "" "" "MISC-267" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 23 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00290534" "00198" "00328423" "04214" "00328424" "04214" "00328425" "04214" "00328426" "04214" "00334452" "04214" "00334453" "04214" "00363329" "04214" "00372626" "04214" "00372640" "04214" "00372716" "04214" "00372751" "04214" "00379436" "04214" "00379437" "04214" "00379438" "04214" "00379439" "04214" "00386886" "04214" "00428740" "04214" "00428742" "04214" "00428743" "04214" "00447014" "00198" "00447200" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01157, 01602, 04214 ## Count = 22 "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000246649" "04214" "00328423" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246650" "04214" "00328424" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246651" "04214" "00328425" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246652" "04214" "00328426" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "late-onset high myopia" "" "0000252541" "04214" "00334452" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinopathy" "" "0000252542" "04214" "00334453" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinopathy" "" "0000258694" "04214" "00363329" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000267905" "04214" "00372626" "00000" "Familial, autosomal dominant" "34y" "see paper; ..." "<10y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267919" "04214" "00372640" "00000" "Isolated (sporadic)" "19y" "see paper; ..." "11y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267995" "04214" "00372716" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268030" "04214" "00372751" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000273309" "04214" "00379436" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273310" "04214" "00379437" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273311" "04214" "00379438" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273312" "04214" "00379439" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "late-onset high myopia (loHM)" "" "0000280686" "04214" "00386886" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000319638" "04214" "00428740" "00006" "Familial, autosomal dominant" "" "see paper; ..., non-infectious uveitis, ERG early loss B-wave, pigmentary retinal degeneration, cystoid macular edema, retinal and iris neovascularization, vitreous hemorrhage, epiretinal membrane formation, proliferative vitreoretinopathy, retinal detachment, cataract, neovascular glaucoma and ultimately phthisis, complete blindness" "" "" "" "" "" "" "" "" "VRNI" "neovascular inflammatory vitreoretinopathy" "" "0000319640" "04214" "00428742" "00006" "Familial, autosomal dominant" "" "see paper; ..., non-infectious uveitis, ERG early loss B-wave, pigmentary retinal degeneration, cystoid macular edema, retinal and iris neovascularization, vitreous hemorrhage, epiretinal membrane formation, proliferative vitreoretinopathy, retinal detachment, cataract, neovascular glaucoma and ultimately phthisis, complete blindness" "" "" "" "" "" "" "" "" "VRNI" "neovascular inflammatory vitreoretinopathy" "" "0000319641" "04214" "00428743" "00006" "Familial, autosomal dominant" "" "see paper; ..., non-infectious uveitis, ERG early loss B-wave, pigmentary retinal degeneration, cystoid macular edema, retinal and iris neovascularization, vitreous hemorrhage, epiretinal membrane formation, proliferative vitreoretinopathy, retinal detachment, cataract, neovascular glaucoma and ultimately phthisis, complete blindness" "" "" "" "" "" "" "" "" "VRNI" "neovascular inflammatory vitreoretinopathy" "" "0000336213" "00198" "00447014" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" "" "0000336399" "00198" "00447200" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "eye diseaes" "" ## Screenings ## Do not remove or alter this header ## ## Count = 23 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000291702" "00290534" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000329637" "00328423" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329638" "00328424" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329639" "00328425" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329640" "00328426" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000335681" "00334452" "1" "00000" "00006" "2021-02-28 16:11:14" "" "" "SEQ-NG" "DNA" "" "WES" "0000335682" "00334453" "1" "00000" "00006" "2021-02-28 16:11:14" "" "" "SEQ-NG" "DNA" "" "WES" "0000364557" "00363329" "1" "00000" "00006" "2021-04-26 18:22:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000373858" "00372626" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373872" "00372640" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373948" "00372716" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373983" "00372751" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000380636" "00379436" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380637" "00379437" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380638" "00379438" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380639" "00379439" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000388114" "00386886" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000430154" "00428740" "1" "00006" "00006" "2023-01-09 16:27:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000430155" "00428742" "1" "00006" "00006" "2023-01-09 16:27:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000430156" "00428743" "1" "00006" "00006" "2023-01-09 16:27:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000448591" "00447014" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448777" "00447200" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{geneid}}" "0000329637" "CAPN5" "0000329638" "CAPN5" "0000329639" "CAPN5" "0000329640" "CAPN5" "0000335681" "CAPN5" "0000335682" "CAPN5" "0000364557" "CAPN5" "0000380636" "CAPN5" "0000380637" "CAPN5" "0000380638" "CAPN5" "0000380639" "CAPN5" "0000388114" "CAPN5" ## 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 = 95 "{{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}}" "0000005033" "3" "50" "11" "76781793" "76781793" "subst" "0" "00037" "CAPN5_000001" "g.76781793A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.77070746=" "" "VUS" "" "0000247008" "0" "10" "11" "76796018" "76796018" "subst" "0.00208184" "02330" "CAPN5_000005" "g.76796018A>C" "" "" "" "CAPN5(NM_004055.5):c.86A>C (p.D29A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77084972A>C" "" "benign" "" "0000254670" "0" "30" "11" "76826545" "76826545" "subst" "0.0029659" "01943" "CAPN5_000009" "g.76826545A>G" "" "" "" "CAPN5(NM_004055.4):c.804A>G (p.L268=), CAPN5(NM_004055.5):c.804A>G (p.L268=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77115499A>G" "" "likely benign" "" "0000256087" "0" "50" "11" "76831879" "76831879" "subst" "0.000186846" "01943" "CAPN5_000003" "g.76831879A>C" "" "" "" "CAPN5(NM_004055.4):c.1411A>C (p.I471L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77120833A>C" "" "VUS" "" "0000264277" "0" "10" "11" "76834887" "76834887" "subst" "0.00397781" "02330" "CAPN5_000015" "g.76834887C>A" "" "" "" "CAPN5(NM_004055.4):c.1894C>A (p.L632I), CAPN5(NM_004055.5):c.1894C>A (p.L632I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77123841C>A" "" "benign" "" "0000264278" "0" "10" "11" "76823736" "76823736" "subst" "0.000682267" "02330" "CAPN5_000008" "g.76823736C>T" "" "" "" "CAPN5(NM_004055.5):c.399C>T (p.D133=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77112690C>T" "" "benign" "" "0000264279" "0" "10" "11" "76796027" "76796027" "subst" "0" "02330" "CAPN5_000006" "g.76796027T>C" "" "" "" "CAPN5(NM_004055.5):c.95T>C (p.F32S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77084981T>C" "" "benign" "" "0000264280" "0" "10" "11" "76829212" "76829212" "subst" "1.63784E-5" "02330" "CAPN5_000010" "g.76829212C>T" "" "" "" "CAPN5(NM_004055.5):c.981C>T (p.F327=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77118166C>T" "" "benign" "" "0000272600" "0" "50" "11" "76831837" "76831837" "subst" "2.03145E-5" "01943" "CAPN5_000011" "g.76831837G>A" "" "" "" "CAPN5(NM_004055.4):c.1369G>A (p.V457I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77120791G>A" "" "VUS" "" "0000272601" "0" "30" "11" "76831893" "76831893" "subst" "0.000459085" "01943" "CAPN5_000012" "g.76831893C>T" "" "" "" "CAPN5(NM_004055.4):c.1425C>T (p.F475=), CAPN5(NM_004055.5):c.1425C>T (p.F475=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77120847C>T" "" "likely benign" "" "0000272602" "0" "50" "11" "76832987" "76832987" "subst" "0.00096573" "01943" "CAPN5_000013" "g.76832987C>T" "" "" "" "CAPN5(NM_004055.4):c.1495C>T (p.R499C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77121941C>T" "" "VUS" "" "0000272603" "0" "30" "11" "76834880" "76834880" "subst" "0" "01943" "CAPN5_000014" "g.76834880G>A" "" "" "" "CAPN5(NM_004055.4):c.1887G>A (p.V629=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77123834G>A" "" "likely benign" "" "0000272604" "0" "30" "11" "76834887" "76834887" "subst" "0.00397781" "01943" "CAPN5_000015" "g.76834887C>A" "" "" "" "CAPN5(NM_004055.4):c.1894C>A (p.L632I), CAPN5(NM_004055.5):c.1894C>A (p.L632I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77123841C>A" "" "likely benign" "" "0000272605" "0" "50" "11" "76795985" "76795985" "subst" "0.00156138" "01943" "CAPN5_000002" "g.76795985G>A" "" "" "" "CAPN5(NM_004055.4):c.53G>A (p.R18Q), CAPN5(NM_004055.5):c.53G>A (p.R18Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77084939G>A" "" "VUS" "" "0000342544" "0" "50" "11" "76826606" "76826606" "subst" "0" "02327" "CAPN5_000004" "g.76826606C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77115560C>T" "" "VUS" "" "0000545757" "0" "30" "11" "76795953" "76795953" "subst" "0.000552571" "02330" "CAPN5_000016" "g.76795953C>G" "" "" "" "CAPN5(NM_004055.4):c.21C>G (p.P7=), CAPN5(NM_004055.5):c.21C>G (p.P7=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77084907C>G" "" "likely benign" "" "0000545758" "0" "10" "11" "76795985" "76795985" "subst" "0.00156138" "02330" "CAPN5_000002" "g.76795985G>A" "" "" "" "CAPN5(NM_004055.4):c.53G>A (p.R18Q), CAPN5(NM_004055.5):c.53G>A (p.R18Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77084939G>A" "" "benign" "" "0000545759" "0" "30" "11" "76796023" "76796023" "del" "0" "02330" "CAPN5_000017" "g.76796023del" "" "" "" "CAPN5(NM_004055.5):c.91delC (p.L31Sfs*132)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77084977del" "" "likely benign" "" "0000545760" "0" "50" "11" "76796075" "76796075" "subst" "4.09001E-6" "01943" "CAPN5_000018" "g.76796075C>T" "" "" "" "CAPN5(NM_004055.4):c.143C>T (p.A48V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77085029C>T" "" "VUS" "" "0000545761" "0" "30" "11" "76804724" "76804724" "subst" "0.000748814" "01943" "CAPN5_000019" "g.76804724G>A" "" "" "" "CAPN5(NM_004055.4):c.166-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77093678G>A" "" "likely benign" "" "0000545762" "0" "30" "11" "76804776" "76804776" "subst" "0.000811635" "01943" "CAPN5_000020" "g.76804776G>A" "" "" "" "CAPN5(NM_004055.4):c.214G>A (p.D72N), CAPN5(NM_004055.5):c.214G>A (p.D72N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77093730G>A" "" "likely benign" "" "0000545763" "0" "30" "11" "76804847" "76804847" "subst" "0.000144809" "01943" "CAPN5_000021" "g.76804847G>A" "" "" "" "CAPN5(NM_004055.4):c.285G>A (p.S95=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77093801G>A" "" "likely benign" "" "0000545764" "0" "30" "11" "76825399" "76825399" "subst" "0.000211162" "01943" "CAPN5_000022" "g.76825399C>T" "" "" "" "CAPN5(NM_004055.4):c.618C>T (p.N206=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77114353C>T" "" "likely benign" "" "0000545765" "0" "50" "11" "76826462" "76826462" "del" "0" "01943" "CAPN5_000023" "g.76826462del" "" "" "" "CAPN5(NM_004055.4):c.721delG (p.E241Rfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77115416del" "" "VUS" "" "0000545766" "0" "30" "11" "76826479" "76826479" "subst" "0.000560566" "01943" "CAPN5_000024" "g.76826479C>T" "" "" "" "CAPN5(NM_004055.4):c.738C>T (p.C246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77115433C>T" "" "likely benign" "" "0000545767" "0" "10" "11" "76826545" "76826545" "subst" "0.0029659" "02330" "CAPN5_000009" "g.76826545A>G" "" "" "" "CAPN5(NM_004055.4):c.804A>G (p.L268=), CAPN5(NM_004055.5):c.804A>G (p.L268=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77115499A>G" "" "benign" "" "0000545768" "0" "50" "11" "76826607" "76826607" "subst" "0" "02330" "CAPN5_000025" "g.76826607G>A" "" "" "" "CAPN5(NM_004055.5):c.866G>A (p.R289Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77115561G>A" "" "VUS" "" "0000545769" "0" "30" "11" "76827269" "76827269" "subst" "0.00133942" "01943" "CAPN5_000026" "g.76827269C>T" "" "" "" "CAPN5(NM_004055.4):c.894-3C>T, CAPN5(NM_004055.5):c.894-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77116223C>T" "" "likely benign" "" "0000545770" "0" "10" "11" "76829323" "76829323" "subst" "7.35288E-5" "02330" "CAPN5_000027" "g.76829323G>A" "" "" "" "CAPN5(NM_004055.5):c.1092G>A (p.T364=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77118277G>A" "" "benign" "" "0000545771" "0" "30" "11" "76829405" "76829405" "subst" "8.47099E-5" "02327" "CAPN5_000028" "g.76829405G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77118359G>A" "" "likely benign" "" "0000545772" "0" "10" "11" "76831748" "76831748" "subst" "0.000207689" "02330" "CAPN5_000029" "g.76831748G>A" "" "" "" "CAPN5(NM_004055.5):c.1291-11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77120702G>A" "" "benign" "" "0000545773" "0" "10" "11" "76831869" "76831869" "subst" "4.06194E-6" "02330" "CAPN5_000030" "g.76831869C>T" "" "" "" "CAPN5(NM_004055.5):c.1401C>T (p.R467=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77120823C>T" "" "benign" "" "0000545774" "0" "50" "11" "76831954" "76831954" "subst" "0.000241512" "01943" "CAPN5_000031" "g.76831954C>T" "" "" "" "CAPN5(NM_004055.4):c.1486C>T (p.R496W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77120908C>T" "" "VUS" "" "0000545775" "0" "30" "11" "76833666" "76833666" "subst" "8.94055E-5" "02327" "CAPN5_000032" "g.76833666C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77122620C>T" "" "likely benign" "" "0000545776" "0" "10" "11" "76834859" "76834859" "subst" "8.53097E-5" "02330" "CAPN5_000033" "g.76834859C>T" "" "" "" "CAPN5(NM_004055.5):c.1866C>T (p.N622=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77123813C>T" "" "benign" "" "0000613720" "0" "30" "11" "76804759" "76804759" "subst" "0.000143219" "01943" "CAPN5_000034" "g.76804759A>G" "" "" "" "CAPN5(NM_004055.4):c.197A>G (p.D66G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77093713A>G" "" "likely benign" "" "0000613721" "0" "10" "11" "76823626" "76823626" "subst" "0.000269813" "02330" "CAPN5_000035" "g.76823626C>G" "" "" "" "CAPN5(NM_004055.5):c.298-9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77112580C>G" "" "benign" "" "0000613722" "0" "30" "11" "76825363" "76825363" "subst" "0.000207095" "01943" "CAPN5_000036" "g.76825363T>C" "" "" "" "CAPN5(NM_004055.4):c.582T>C (p.S194=), CAPN5(NM_004055.5):c.582T>C (p.S194=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77114317T>C" "" "likely benign" "" "0000613723" "0" "30" "11" "76831893" "76831893" "subst" "0.000459085" "02330" "CAPN5_000012" "g.76831893C>T" "" "" "" "CAPN5(NM_004055.4):c.1425C>T (p.F475=), CAPN5(NM_004055.5):c.1425C>T (p.F475=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77120847C>T" "" "likely benign" "" "0000613724" "0" "10" "11" "76834722" "76834722" "subst" "0" "02330" "CAPN5_000038" "g.76834722G>T" "" "" "" "CAPN5(NM_004055.5):c.1741-12G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77123676G>T" "" "benign" "" "0000613725" "0" "50" "11" "76834781" "76834781" "subst" "0" "01943" "CAPN5_000039" "g.76834781C>A" "" "" "" "CAPN5(NM_004055.4):c.1788C>A (p.H596Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77123735C>A" "" "VUS" "" "0000622731" "0" "10" "11" "76825363" "76825363" "subst" "0.000207095" "02330" "CAPN5_000036" "g.76825363T>C" "" "" "" "CAPN5(NM_004055.4):c.582T>C (p.S194=), CAPN5(NM_004055.5):c.582T>C (p.S194=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77114317T>C" "" "benign" "" "0000622732" "0" "10" "11" "76830218" "76830218" "subst" "0.0017577" "02330" "CAPN5_000037" "g.76830218C>T" "" "" "" "CAPN5(NM_004055.5):c.1290+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77119172C>T" "" "benign" "" "0000648391" "1" "30" "11" "76795984" "76795984" "subst" "0.000215549" "03575" "CAPN5_000040" "g.76795984C>T" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs149132399}" "Germline" "" "rs149132399" "0" "" "" "g.77084938C>T" "" "likely benign" "" "0000656916" "0" "30" "11" "76834837" "76834837" "subst" "0.00049157" "02330" "CAPN5_000041" "g.76834837G>A" "" "" "" "CAPN5(NM_004055.5):c.1844G>A (p.R615Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77123791G>A" "" "likely benign" "" "0000656917" "0" "30" "11" "76834898" "76834898" "subst" "0" "01943" "CAPN5_000042" "g.76834898C>T" "" "" "" "CAPN5(NM_004055.4):c.1905C>T (p.T635=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77123852C>T" "" "likely benign" "" "0000679341" "0" "30" "11" "76834905" "76834905" "subst" "0.000101933" "01943" "CAPN5_000043" "g.76834905A>G" "" "" "" "CAPN5(NM_004055.4):c.1912A>G (p.M638V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691198" "0" "30" "11" "76833058" "76833058" "subst" "0" "01943" "CAPN5_000044" "g.76833058T>C" "" "" "" "CAPN5(NM_004055.4):c.1566T>C (p.H522=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000713985" "1" "50" "11" "76796041" "76796041" "subst" "2.85111E-5" "00000" "CAPN5_000045" "g.76796041G>A" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.77084995G>A" "" "VUS" "" "0000713986" "1" "50" "11" "76825452" "76825452" "subst" "8.12592E-6" "00000" "CAPN5_000046" "g.76825452G>T" "" "{PMID:Zhou 2018:29453956}" "" "671C>T" "" "Germline" "" "rs200993761" "0" "" "" "" "" "VUS" "" "0000713987" "1" "50" "11" "76826634" "76826634" "subst" "3.73317E-5" "00000" "CAPN5_000047" "g.76826634C>T" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "rs566712391" "0" "" "" "g.77115588C>T" "" "VUS" "" "0000713988" "1" "50" "11" "76829255" "76829255" "subst" "3.65812E-5" "00000" "CAPN5_000048" "g.76829255G>A" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.77118209G>A" "" "VUS" "" "0000723716" "0" "50" "11" "76823722" "76823722" "subst" "1.62456E-5" "02327" "CAPN5_000049" "g.76823722G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000734376" "0" "50" "11" "76829381" "76829381" "subst" "0" "00000" "CAPN5_000050" "g.76829381T>G" "" "{PMID:Huang 2017:28512305}" "" "" "" "Unknown" "" "" "0" "" "" "g.77118335T>G" "" "VUS" "" "0000734377" "0" "50" "11" "76829381" "76829381" "subst" "0" "00000" "CAPN5_000050" "g.76829381T>G" "" "{PMID:Huang 2017:28512305}" "" "" "" "Unknown" "" "" "0" "" "" "g.77118335T>G" "" "VUS" "" "0000765422" "1" "90" "11" "76795934" "76795934" "subst" "4.06359E-6" "00000" "CAPN5_000051" "g.76795934T>C" "1/596 chromosomes" "{PMID:Sun 2015:26747767}" "" "" "not in 624 control chromosomes" "Germline" "" "" "0" "" "" "g.77084888T>C" "" "pathogenic" "" "0000784628" "0" "50" "11" "76804807" "76804807" "subst" "8.21052E-6" "00000" "CAPN5_000053" "g.76804807G>C" "1/314 case chromosomes" "{PMID:Xu 2015:25999675}" "" "" "0/1266 control chromosomes" "Germline" "" "" "0" "" "" "g.77093761G>C" "" "VUS" "" "0000784643" "0" "50" "11" "76826634" "76826634" "subst" "3.73317E-5" "00000" "CAPN5_000047" "g.76826634C>T" "1/314 case chromosomes" "{PMID:Xu 2015:25999675}" "" "" "0/1266 control chromosomes" "Germline" "" "" "0" "" "" "g.77115588C>T" "" "VUS" "" "0000784652" "0" "50" "11" "76795993" "76795993" "subst" "1.62745E-5" "00000" "CAPN5_000052" "g.76795993C>T" "1/314 case chromosomes" "{PMID:Xu 2015:25999675}" "" "" "0/1266 control chromosomes" "Germline" "" "" "0" "" "" "g.77084947C>T" "" "VUS" "" "0000784660" "0" "50" "11" "76831807" "76831807" "subst" "2.0355E-5" "00000" "CAPN5_000054" "g.76831807G>A" "1/314 case chromosomes" "{PMID:Xu 2015:25999675}" "" "" "0/1266 control chromosomes" "Germline" "" "rs144340565" "0" "" "" "g.77120761G>A" "" "VUS" "" "0000793788" "0" "70" "11" "76796041" "76796041" "subst" "2.85111E-5" "00000" "CAPN5_000045" "g.76796041G>A" "" "{PMID:Zhou-2011:21677794}" "" "c.109G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793789" "0" "70" "11" "76825452" "76825452" "subst" "0" "00000" "CAPN5_000055" "g.76825452C>T" "" "{PMID:Zhou-2011:21677794}" "" "c.671C>T" "" "Unknown" "" "rs200993761" "0" "" "" "" "" "likely pathogenic" "" "0000793790" "0" "70" "11" "76826634" "76826634" "subst" "3.73317E-5" "00000" "CAPN5_000047" "g.76826634C>T" "" "{PMID:Zhou-2011:21677794}" "" "c.893C>T" "" "Unknown" "" "rs566712391" "0" "" "" "" "" "likely pathogenic" "" "0000793791" "0" "70" "11" "76829255" "76829255" "subst" "3.65812E-5" "00000" "CAPN5_000048" "g.76829255G>A" "" "{PMID:Zhou-2011:21677794}" "" "c.1024G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000805409" "0" "30" "11" "76795953" "76795953" "subst" "0.000552571" "01943" "CAPN5_000016" "g.76795953C>G" "" "" "" "CAPN5(NM_004055.4):c.21C>G (p.P7=), CAPN5(NM_004055.5):c.21C>G (p.P7=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805410" "0" "30" "11" "76804775" "76804775" "subst" "0.00013276" "02330" "CAPN5_000056" "g.76804775C>T" "" "" "" "CAPN5(NM_004055.4):c.213C>T (p.H71=), CAPN5(NM_004055.5):c.213C>T (p.H71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805411" "0" "50" "11" "76825309" "76825321" "del" "0" "02330" "CAPN5_000057" "g.76825309_76825321del" "" "" "" "CAPN5(NM_004055.5):c.528_540delCCTGGATGGAGGC (p.L177Tfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805412" "0" "50" "11" "76829255" "76829255" "subst" "3.65812E-5" "02330" "CAPN5_000048" "g.76829255G>A" "" "" "" "CAPN5(NM_004055.5):c.1024G>A (p.V342M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805413" "0" "30" "11" "76833764" "76833764" "subst" "0" "01943" "CAPN5_000058" "g.76833764C>A" "" "" "" "CAPN5(NM_004055.4):c.1740+6C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805414" "0" "30" "11" "76834811" "76834811" "subst" "2.43728E-5" "01943" "CAPN5_000059" "g.76834811C>T" "" "" "" "CAPN5(NM_004055.4):c.1818C>T (p.A606=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000816272" "0" "50" "11" "76823633" "76823633" "subst" "0" "00000" "CAPN5_000060" "g.76823633A>C" "" "{PMID:Zampaglione 2020:32037395}" "" "CAPN5 c.298-2A>C" "unsolved" "Unknown" "?" "" "0" "" "" "g.77112587A>C" "" "VUS" "" "0000853183" "0" "10" "11" "76796077" "76796077" "subst" "0.00124384" "02330" "CAPN5_000061" "g.76796077G>A" "" "" "" "CAPN5(NM_004055.5):c.145G>A (p.V49I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000853184" "0" "30" "11" "76804775" "76804775" "subst" "0.00013276" "01943" "CAPN5_000056" "g.76804775C>T" "" "" "" "CAPN5(NM_004055.4):c.213C>T (p.H71=), CAPN5(NM_004055.5):c.213C>T (p.H71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853185" "0" "30" "11" "76823716" "76823716" "subst" "4.87333E-5" "01943" "CAPN5_000064" "g.76823716C>T" "" "" "" "CAPN5(NM_004055.4):c.379C>T (p.R127C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862708" "0" "30" "11" "76823637" "76823637" "subst" "4.08223E-6" "01943" "CAPN5_000062" "g.76823637C>T" "" "" "" "CAPN5(NM_004055.4):c.300C>T (p.V100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862709" "0" "30" "11" "76823673" "76823673" "subst" "0.000524318" "01943" "CAPN5_000063" "g.76823673A>G" "" "" "" "CAPN5(NM_004055.4):c.336A>G (p.E112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862710" "0" "30" "11" "76830201" "76830201" "subst" "0" "01943" "CAPN5_000065" "g.76830201G>A" "" "" "" "CAPN5(NM_004055.4):c.1290+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890185" "0" "30" "11" "76804776" "76804776" "subst" "0.000811635" "02330" "CAPN5_000020" "g.76804776G>A" "" "" "" "CAPN5(NM_004055.4):c.214G>A (p.D72N), CAPN5(NM_004055.5):c.214G>A (p.D72N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890186" "0" "30" "11" "76826583" "76826583" "subst" "6.11093E-5" "02327" "CAPN5_000066" "g.76826583G>A" "" "" "" "CAPN5(NM_004055.5):c.842G>A (p.R281H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890187" "0" "30" "11" "76829356" "76829356" "subst" "4.28324E-6" "02330" "CAPN5_000067" "g.76829356C>T" "" "" "" "CAPN5(NM_004055.5):c.1125C>T (p.G375=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000909925" "1" "90" "11" "76826469" "76826469" "subst" "0" "00006" "CAPN5_000068" "g.76826469G>T" "" "{PMID:Mahajan 2012:23055945}" "" "" "" "Germline" "yes" "" "0" "" "" "g.77115423G>T" "" "pathogenic (dominant)" "" "0000909927" "1" "90" "11" "76826469" "76826469" "subst" "0" "00006" "CAPN5_000068" "g.76826469G>T" "" "{PMID:Mahajan 2012:23055945}" "" "" "" "Germline" "yes" "" "0" "" "" "g.77115423G>T" "" "pathogenic (dominant)" "" "0000909928" "1" "90" "11" "76826472" "76826472" "subst" "0" "00006" "CAPN5_000069" "g.76826472T>C" "" "{PMID:Mahajan 2012:23055945}" "" "" "" "Germline" "yes" "" "0" "" "" "g.77115426T>C" "" "pathogenic (dominant)" "" "0000913704" "0" "50" "11" "76826503" "76826503" "subst" "0.000105968" "02325" "CAPN5_000070" "g.76826503C>A" "" "" "" "CAPN5(NM_004055.5):c.762C>A (p.Y254*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913705" "0" "50" "11" "76826583" "76826583" "subst" "6.11093E-5" "02325" "CAPN5_000066" "g.76826583G>A" "" "" "" "CAPN5(NM_004055.5):c.842G>A (p.R281H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949804" "0" "30" "11" "76795984" "76795984" "subst" "0.000215549" "02330" "CAPN5_000040" "g.76795984C>T" "" "" "" "CAPN5(NM_004055.5):c.52C>T (p.R18W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949805" "0" "30" "11" "76823616" "76823616" "subst" "0" "02330" "CAPN5_000071" "g.76823616C>T" "" "" "" "CAPN5(NM_004055.5):c.298-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949806" "0" "50" "11" "76831868" "76831868" "subst" "1.62493E-5" "02325" "CAPN5_000072" "g.76831868G>A" "" "" "" "CAPN5(NM_004055.5):c.1400G>A (p.R467H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949807" "0" "30" "11" "76834830" "76834830" "subst" "0.000211238" "02330" "CAPN5_000073" "g.76834830C>T" "" "" "" "CAPN5(NM_004055.5):c.1837C>T (p.R613W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000958463" "0" "50" "11" "76796023" "76796023" "del" "0" "00006" "CAPN5_000017" "g.76796023del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM1, PP2" "Germline" "" "" "0" "" "" "g.77084977del" "" "VUS" "ACMG" "0000958585" "1" "50" "11" "76823728" "76823728" "subst" "0" "00006" "CAPN5_000074" "g.76823728T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2" "Germline" "" "" "0" "" "" "g.77112682T>A" "" "VUS" "ACMG" "0000966591" "0" "50" "11" "76804860" "76804860" "subst" "0" "02327" "CAPN5_000075" "g.76804860G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966594" "0" "30" "11" "76841670" "76841670" "subst" "4.50071E-5" "02330" "CAPN5_000076" "g.76841670G>A" "" "" "" "MYO7A(NM_000260.4):c.-11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999475" "0" "30" "11" "76804840" "76804840" "subst" "3.30355E-5" "01804" "CAPN5_000077" "g.76804840G>A" "" "" "" "CAPN5(NM_004055.4):c.278G>A (p.(Arg93Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026081" "0" "30" "11" "76827269" "76827269" "subst" "0.00133942" "02325" "CAPN5_000026" "g.76827269C>T" "" "" "" "CAPN5(NM_004055.4):c.894-3C>T, CAPN5(NM_004055.5):c.894-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes CAPN5 ## Count = 95 "{{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}}" "0000005033" "00001467" "50" "-36" "3652" "-36" "3652" "c.-36+3652A>G" "r.(=)" "p.(=)" "" "0000247008" "00001467" "10" "86" "0" "86" "0" "c.86A>C" "r.(?)" "p.(Asp29Ala)" "" "0000254670" "00001467" "30" "804" "0" "804" "0" "c.804A>G" "r.(?)" "p.(Leu268=)" "" "0000256087" "00001467" "50" "1411" "0" "1411" "0" "c.1411A>C" "r.(?)" "p.(Ile471Leu)" "" "0000264277" "00001467" "10" "1894" "0" "1894" "0" "c.1894C>A" "r.(?)" "p.(Leu632Ile)" "" "0000264278" "00001467" "10" "399" "0" "399" "0" "c.399C>T" "r.(?)" "p.(Asp133=)" "" "0000264279" "00001467" "10" "95" "0" "95" "0" "c.95T>C" "r.(?)" "p.(Phe32Ser)" "" "0000264280" "00001467" "10" "981" "0" "981" "0" "c.981C>T" "r.(?)" "p.(Phe327=)" "" "0000272600" "00001467" "50" "1369" "0" "1369" "0" "c.1369G>A" "r.(?)" "p.(Val457Ile)" "" "0000272601" "00001467" "30" "1425" "0" "1425" "0" "c.1425C>T" "r.(?)" "p.(Phe475=)" "" "0000272602" "00001467" "50" "1495" "0" "1495" "0" "c.1495C>T" "r.(?)" "p.(Arg499Cys)" "" "0000272603" "00001467" "30" "1887" "0" "1887" "0" "c.1887G>A" "r.(?)" "p.(Val629=)" "" "0000272604" "00001467" "30" "1894" "0" "1894" "0" "c.1894C>A" "r.(?)" "p.(Leu632Ile)" "" "0000272605" "00001467" "50" "53" "0" "53" "0" "c.53G>A" "r.(?)" "p.(Arg18Gln)" "" "0000342544" "00001467" "50" "865" "0" "865" "0" "c.865C>T" "r.(?)" "p.(Arg289Trp)" "" "0000545757" "00001467" "30" "21" "0" "21" "0" "c.21C>G" "r.(?)" "p.(Pro7=)" "" "0000545758" "00001467" "10" "53" "0" "53" "0" "c.53G>A" "r.(?)" "p.(Arg18Gln)" "" "0000545759" "00001467" "30" "91" "0" "91" "0" "c.91del" "r.(?)" "p.(Leu31SerfsTer132)" "" "0000545760" "00001467" "50" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.(Ala48Val)" "" "0000545761" "00001467" "30" "166" "-4" "166" "-4" "c.166-4G>A" "r.spl?" "p.?" "" "0000545762" "00001467" "30" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Asp72Asn)" "" "0000545763" "00001467" "30" "285" "0" "285" "0" "c.285G>A" "r.(?)" "p.(Ser95=)" "" "0000545764" "00001467" "30" "618" "0" "618" "0" "c.618C>T" "r.(?)" "p.(Asn206=)" "" "0000545765" "00001467" "50" "721" "0" "721" "0" "c.721del" "r.(?)" "p.(Glu241ArgfsTer9)" "" "0000545766" "00001467" "30" "738" "0" "738" "0" "c.738C>T" "r.(?)" "p.(Cys246=)" "" "0000545767" "00001467" "10" "804" "0" "804" "0" "c.804A>G" "r.(?)" "p.(Leu268=)" "" "0000545768" "00001467" "50" "866" "0" "866" "0" "c.866G>A" "r.(?)" "p.(Arg289Gln)" "" "0000545769" "00001467" "30" "894" "-3" "894" "-3" "c.894-3C>T" "r.spl?" "p.?" "" "0000545770" "00001467" "10" "1092" "0" "1092" "0" "c.1092G>A" "r.(?)" "p.(Thr364=)" "" "0000545771" "00001467" "30" "1167" "7" "1167" "7" "c.1167+7G>A" "r.(=)" "p.(=)" "" "0000545772" "00001467" "10" "1291" "-11" "1291" "-11" "c.1291-11G>A" "r.(=)" "p.(=)" "" "0000545773" "00001467" "10" "1401" "0" "1401" "0" "c.1401C>T" "r.(?)" "p.(Arg467=)" "" "0000545774" "00001467" "50" "1486" "0" "1486" "0" "c.1486C>T" "r.(?)" "p.(Arg496Trp)" "" "0000545775" "00001467" "30" "1648" "0" "1648" "0" "c.1648C>T" "r.(?)" "p.(Arg550Cys)" "" "0000545776" "00001467" "10" "1866" "0" "1866" "0" "c.1866C>T" "r.(?)" "p.(Asn622=)" "" "0000613720" "00001467" "30" "197" "0" "197" "0" "c.197A>G" "r.(?)" "p.(Asp66Gly)" "" "0000613721" "00001467" "10" "298" "-9" "298" "-9" "c.298-9C>G" "r.(=)" "p.(=)" "" "0000613722" "00001467" "30" "582" "0" "582" "0" "c.582T>C" "r.(?)" "p.(Ser194=)" "" "0000613723" "00001467" "30" "1425" "0" "1425" "0" "c.1425C>T" "r.(?)" "p.(Phe475=)" "" "0000613724" "00001467" "10" "1741" "-12" "1741" "-12" "c.1741-12G>T" "r.(=)" "p.(=)" "" "0000613725" "00001467" "50" "1788" "0" "1788" "0" "c.1788C>A" "r.(?)" "p.(His596Gln)" "" "0000622731" "00001467" "10" "582" "0" "582" "0" "c.582T>C" "r.(?)" "p.(Ser194=)" "" "0000622732" "00001467" "10" "1290" "20" "1290" "20" "c.1290+20C>T" "r.(=)" "p.(=)" "" "0000648391" "00001467" "30" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" "" "0000656916" "00001467" "30" "1844" "0" "1844" "0" "c.1844G>A" "r.(?)" "p.(Arg615Gln)" "" "0000656917" "00001467" "30" "1905" "0" "1905" "0" "c.1905C>T" "r.(?)" "p.(Thr635=)" "" "0000679341" "00001467" "30" "1912" "0" "1912" "0" "c.1912A>G" "r.(?)" "p.(Met638Val)" "" "0000691198" "00001467" "30" "1566" "0" "1566" "0" "c.1566T>C" "r.(?)" "p.(His522=)" "" "0000713985" "00001467" "50" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Asp37Asn)" "" "0000713986" "00001467" "50" "671" "0" "671" "0" "c.671G>T" "r.(?)" "p.(Arg224Leu)" "" "0000713987" "00001467" "50" "893" "0" "893" "0" "c.893C>T" "r.(?)" "p.(Thr298Ile)" "" "0000713988" "00001467" "50" "1024" "0" "1024" "0" "c.1024G>A" "r.(?)" "p.(Val342Met)" "" "0000723716" "00001467" "50" "385" "0" "385" "0" "c.385G>A" "r.(?)" "p.(Gly129Arg)" "" "0000734376" "00001467" "50" "1150" "0" "1150" "0" "c.1150T>G" "r.(?)" "p.(Phe384Val)" "" "0000734377" "00001467" "50" "1150" "0" "1150" "0" "c.1150T>G" "r.(?)" "p.(Phe384Val)" "" "0000765422" "00001467" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000784628" "00001467" "50" "245" "0" "245" "0" "c.245G>C" "r.(?)" "p.(Trp82Ser)" "" "0000784643" "00001467" "50" "893" "0" "893" "0" "c.893C>T" "r.(?)" "p.(Thr298Ile)" "" "0000784652" "00001467" "50" "61" "0" "61" "0" "c.61C>T" "r.(?)" "p.(Arg21Trp)" "" "0000784660" "00001467" "50" "1339" "0" "1339" "0" "c.1339G>A" "r.(?)" "p.(Ala447Thr)" "" "0000793788" "00001467" "70" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Asp37Asn)" "2" "0000793789" "00001467" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "5" "0000793790" "00001467" "70" "893" "0" "893" "0" "c.893C>T" "r.(?)" "p.(Thr298Ile)" "6" "0000793791" "00001467" "70" "1024" "0" "1024" "0" "c.1024G>A" "r.(?)" "p.(Val342Met)" "8" "0000805409" "00001467" "30" "21" "0" "21" "0" "c.21C>G" "r.(?)" "p.(Pro7=)" "" "0000805410" "00001467" "30" "213" "0" "213" "0" "c.213C>T" "r.(?)" "p.(His71=)" "" "0000805411" "00001467" "50" "528" "0" "540" "0" "c.528_540del" "r.(?)" "p.(Leu177Thrfs*19)" "" "0000805412" "00001467" "50" "1024" "0" "1024" "0" "c.1024G>A" "r.(?)" "p.(Val342Met)" "" "0000805413" "00001467" "30" "1740" "6" "1740" "6" "c.1740+6C>A" "r.(=)" "p.(=)" "" "0000805414" "00001467" "30" "1818" "0" "1818" "0" "c.1818C>T" "r.(?)" "p.(Ala606=)" "" "0000816272" "00001467" "50" "298" "-2" "298" "-2" "c.298-2A>C" "r.spl" "p.(?)" "" "0000853183" "00001467" "10" "145" "0" "145" "0" "c.145G>A" "r.(?)" "p.(Val49Ile)" "" "0000853184" "00001467" "30" "213" "0" "213" "0" "c.213C>T" "r.(?)" "p.(His71=)" "" "0000853185" "00001467" "30" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127Cys)" "" "0000862708" "00001467" "30" "300" "0" "300" "0" "c.300C>T" "r.(?)" "p.(Val100=)" "" "0000862709" "00001467" "30" "336" "0" "336" "0" "c.336A>G" "r.(?)" "p.(Glu112=)" "" "0000862710" "00001467" "30" "1290" "3" "1290" "3" "c.1290+3G>A" "r.spl?" "p.?" "" "0000890185" "00001467" "30" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Asp72Asn)" "" "0000890186" "00001467" "30" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Arg281His)" "" "0000890187" "00001467" "30" "1125" "0" "1125" "0" "c.1125C>T" "r.(?)" "p.(Gly375=)" "" "0000909925" "00001467" "90" "728" "0" "728" "0" "c.728G>T" "r.(?)" "p.(Arg243Leu)" "" "0000909927" "00001467" "90" "728" "0" "728" "0" "c.728G>T" "r.(?)" "p.(Arg243Leu)" "" "0000909928" "00001467" "90" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Leu244Pro)" "" "0000913704" "00001467" "50" "762" "0" "762" "0" "c.762C>A" "r.(?)" "p.(Tyr254*)" "" "0000913705" "00001467" "50" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Arg281His)" "" "0000949804" "00001467" "30" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" "" "0000949805" "00001467" "30" "298" "-19" "298" "-19" "c.298-19C>T" "r.(=)" "p.(=)" "" "0000949806" "00001467" "50" "1400" "0" "1400" "0" "c.1400G>A" "r.(?)" "p.(Arg467His)" "" "0000949807" "00001467" "30" "1837" "0" "1837" "0" "c.1837C>T" "r.(?)" "p.(Arg613Trp)" "" "0000958463" "00001467" "50" "91" "0" "91" "0" "c.91del" "r.(?)" "p.(Leu31SerfsTer132)" "" "0000958585" "00001467" "50" "391" "0" "391" "0" "c.391T>A" "r.(?)" "p.(Trp131Arg)" "" "0000966591" "00001467" "50" "297" "1" "297" "1" "c.297+1G>T" "r.spl?" "p.?" "" "0000966594" "00001467" "30" "8677" "0" "8677" "0" "c.*6754G>A" "r.(=)" "p.(=)" "" "0000999475" "00001467" "30" "278" "0" "278" "0" "c.278G>A" "r.(?)" "p.(Arg93Gln)" "" "0001026081" "00001467" "30" "894" "-3" "894" "-3" "c.894-3C>T" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{variantid}}" "0000000209" "0000005033" "0000291702" "0000648391" "0000329637" "0000713985" "0000329638" "0000713986" "0000329639" "0000713987" "0000329640" "0000713988" "0000335681" "0000734376" "0000335682" "0000734377" "0000364557" "0000765422" "0000373858" "0000784643" "0000373872" "0000784652" "0000373948" "0000784628" "0000373983" "0000784660" "0000380636" "0000793788" "0000380637" "0000793789" "0000380638" "0000793790" "0000380639" "0000793791" "0000388114" "0000816272" "0000430154" "0000909925" "0000430155" "0000909927" "0000430156" "0000909928" "0000448591" "0000958463" "0000448777" "0000958585"