### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CAPN1) # 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}}" "CAPN1" "calpain 1, (mu/I) large subunit" "11" "q13" "unknown" "NG_052817.1" "UD_136017683158" "" "https://www.LOVD.nl/CAPN1" "" "1" "1476" "823" "114220" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/CAPN1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-10-12 18:57:43" "00000" "2025-07-08 13:22:38" ## 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}}" "00024125" "CAPN1" "transcript variant 2" "003" "NM_005186.3" "" "NP_005177.2" "" "" "" "-182" "2865" "2145" "64949304" "64979477" "00006" "2016-05-07 21:12:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00325" "SPG" "paraplegia, spastic (SPG)" "" "" "" "" "" "00006" "2014-02-15 22:29:17" "00006" "2016-11-28 13:01:43" "05201" "SPG76" "paraplegia, spastic, autosomal recessive, type 76 (SPG-76)" "AR" "616907" "" "" "" "00006" "2016-11-19 16:26:22" "00006" "2021-12-10 21:51:32" "05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "CAPN1" "00325" "CAPN1" "05201" ## Individuals ## Do not remove or alter this header ## ## Count = 17 "{{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}}" "00064665" "" "" "" "3" "" "00006" "{PMID:Gan-Or 2016:27153400}, {DOI:Gan-Or 2016:10.1016/j.ajhg.2016.04.002}" "5-generation family, 3 affecteds (2F, M), unaffected heterozygous carrier parents" "F;M" "yes" "Morocco" "" "0" "" "" "" "" "00064666" "" "" "" "6" "" "00006" "{PMID:Gan-Or 2016:27153400}, {DOI:Gan-Or 2016:10.1016/j.ajhg.2016.04.002}" "5-geneation family, 8 affecteds (2F, 6M), unaffected carrier parents" "F;M" "yes" "Morocco" "" "0" "" "" "" "" "00064667" "" "" "" "2" "" "00006" "{PMID:Gan-Or 2016:27153400}, {DOI:Gan-Or 2016:10.1016/j.ajhg.2016.04.002}" "5-geenration family, 2 affecteds (F, M)" "F;M" "no" "United States" "" "0" "" "" "idaho/Utah" "" "00245902" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00266114" "" "" "" "1" "" "00006" "{PMID:Tadic 2017:28321562}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "Turkey" "" "0" "" "" "" "FamPatII1/2" "00266115" "" "" "" "1" "" "00006" "{PMID:Kocoglu 2018:29379883}" "" "F" "" "Turkey" "" "0" "" "" "" "Fam1PatII1" "00266116" "" "" "" "2" "" "00006" "{PMID:Kocoglu 2018:29379883}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "Turkey" "" "0" "" "" "" "Fam2PatII1" "00266117" "" "" "00266116" "1" "" "00006" "{PMID:Kocoglu 2018:29379883}" "" "F" "yes" "Turkey" "" "0" "" "" "" "Fam2PatII2" "00266118" "" "" "" "1" "" "00006" "{PMID:Lambe 2018:29678961}" "2-generation family, 1 affected (2 stillborn F), unaffected heterozygous carrier parents/relatives" "F" "" "" "" "0" "" "" "" "FamPatII4" "00266119" "" "" "" "1" "" "00006" "{PMID:Travaglini 2017:28566166}" "" "M" "no" "Italy" "" "0" "" "" "" "FamPat" "00266121" "" "" "" "2" "" "00006" "{PMID:Wang 2016:27320912}" "3-generation family, 2 affected (2F), unaffected heterozygous carrier parents/relatives" "F" "yes" "Bangladesh" "" "0" "" "" "" "FamR" "00266122" "" "" "" "1" "" "00006" "{PMID:Wang 2016:27320912}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "S. Georgia and S. Sandwich Isls." "" "0" "" "" "" "(SAL-584-005" "00266123" "" "" "" "2" "" "00006" "{PMID:Wang 2016:27320912}" "2-generation family, 2 affected sibs, unaffected heterozygous carrier parents" "" "" "Tunisia" "" "0" "" "" "" "FamTun66273/Tun66275" "00266124" "" "" "" "1" "" "00006" "{PMID:Wang 2016:27320912}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "France;Spain" "" "0" "" "" "" "Pat" "00266149" "" "" "" "1" "" "00006" "{PMID:Shetty 2018:30572172}" "4-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Japan" "" "0" "" "" "" "case1" "00266150" "" "" "" "1" "" "00006" "{PMID:Shetty 2018:30572172}" "4-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents" "F;M" "yes" "Turkey" "" "0" "" "" "" "FamPat2/3" "00266151" "" "" "" "1" "" "00006" "{PMID:Shetty 2018:30572172}" "4-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "India" "" "0" "" "" "Punjabi" "case4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 17 "{{individualid}}" "{{diseaseid}}" "00064665" "00325" "00064666" "00325" "00064667" "00325" "00245902" "00198" "00266114" "05292" "00266115" "05292" "00266116" "05292" "00266117" "05292" "00266118" "05292" "00266119" "05292" "00266121" "00325" "00266122" "00325" "00266123" "00325" "00266124" "00325" "00266149" "05292" "00266150" "05292" "00266151" "05292" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00325, 05201, 05292 ## Count = 17 "{{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}}" "0000050865" "00325" "00064665" "00006" "Familial, autosomal recessive" "31y" "see paper; .., lower-extremity spasticity, lower-extremity weakness, lower-extremity hyperreflexia, extensor plantar response, abnormal bladder function, foot deformity, dysarthria, upper extremity hyperreflexia" "20y" "" "" "" "" "" "" "" "" "" "" "0000050866" "00325" "00064666" "00006" "Familial, autosomal recessive" "" "see paper; ..., age onset 35/36/22/39/24y, lower-extremity spasticity (5), lower-extremity weakness (3), lower-extremity hyperreflexia (5), extensor plantar response (4), no abnormal bladder function, foot deformity (3), dysarthria (5), upper extremity hyperreflexia (5), sensory abnormalities (1), peripheral neuropathy (2), gait\r\nataxia (1), upper extremity ataxia (1), scoliosis (1), amyotrophy (2), ocular movement abnormalities (1)" "" "" "" "" "" "" "" "" "" "" "" "0000050867" "00325" "00064667" "00006" "Familial, autosomal recessive" "" "see paper; ..., age at onset 33/19y, lower-extremity spasticity (2), lower-extremity weakness (1), lower-extremity hyperreflexia (1), extensor plantar response (1), abnormal bladder function (1), foot deformity (2), ataxia (1), ankle clonus (1), mild gait ataxia (1), upperextremity hyperreflexia (1), bilateral ankle clonus (1)" "" "" "" "" "" "" "" "" "" "" "" "0000185737" "00198" "00245902" "01807" "Unknown" "" "HP:0001258 (Spastic paraplegia)" "" "" "" "" "" "" "" "" "" "" "" "0000203894" "05292" "00266114" "00006" "Familial, autosomal recessive" "" "see paper; …" "29y" "" "" "" "" "" "" "" "SPG-76" "hereditary spastic paraplegias" "" "0000203895" "05292" "00266115" "00006" "Familial, autosomal recessive" "37y" "lower limb spaticity, upper limb spaticity, gait ataxia, limb ataxia, dysarthria, dysmetria; MRI brain/spinal normal; nerve conduction study normal; keratoconus" "21y" "" "gait difficulty" "" "" "" "" "" "SPG-76" "hereditary spastic paraplegias" "" "0000203896" "05292" "00266116" "00006" "Familial, autosomal recessive" "54y" "lower limb spaticity, upper limb spaticity, gait ataxia, limb ataxia, dysarthria, dysmetria; MRI brain/spinal normal; nerve conduction study normal, sensory evoked potential normal" "15y" "" "gait difficulty" "" "" "" "" "" "SPG-76" "hereditary spastic paraplegias" "" "0000203897" "05292" "00266117" "00006" "Familial, autosomal recessive" "45y" "lower limb spaticity, no upper limb spaticity, gait ataxia, limb ataxia, dysarthria" "15y" "" "" "" "" "" "" "" "SPG-76" "hereditary spastic paraplegias" "" "0000203898" "05292" "00266118" "00006" "Familial, autosomal recessive" "33y" "see paper; …" "14y" "" "" "" "" "" "" "" "SPG-76" "hereditary spastic paraplegias" "" "0000203899" "05292" "00266119" "00006" "Familial, autosomal recessive" "16y" "see paper; …" "1y" "" "" "" "" "" "" "" "SPG-76" "hereditary spastic paraplegias" "" "0000203901" "00325" "00266121" "00006" "Familial, autosomal recessive" "" "see paper; ..., late teens gait ataxia, spasticity, dysphagia;" "" "" "" "" "" "" "" "" "SPG-76" "" "" "0000203902" "00325" "00266122" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "SPG-76" "" "" "0000203903" "00325" "00266123" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "SPG-76" "" "" "0000203904" "00325" "00266124" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "SPG-76" "" "" "0000203928" "05292" "00266149" "00006" "Familial, autosomal recessive" "42y" "see paper; …, spastic paraparesis, ataxia (mild); MRI brain and cervical spine normal" "" "" "" "" "" "" "" "" "SPG-76" "hereditary spastic paraplegias" "" "0000203929" "05292" "00266150" "00006" "Familial, autosomal recessive" "20y-23y" "see paper; …, spastic paraparesis, MRI dorsal spinecord atrophy, MRI brain normal" "" "" "" "" "" "" "" "" "SPG-76" "hereditary spastic paraplegias" "" "0000203930" "05292" "00266151" "00006" "Familial, autosomal recessive" "42y" "see paper; …, spastic paraparesis, ataxia (mild); MRI brain and cervical spine normal" "" "" "" "" "" "" "" "" "SPG-76" "hereditary spastic paraplegias" "" ## Screenings ## Do not remove or alter this header ## ## Count = 17 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000064805" "00064665" "1" "00006" "00006" "2016-05-07 21:23:58" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000064806" "00064666" "1" "00006" "00006" "2016-05-07 21:34:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000064807" "00064667" "1" "00006" "00006" "2016-05-07 21:40:57" "00006" "2016-05-07 21:48:45" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000247014" "00245902" "1" "01807" "01807" "2019-07-11 10:03:14" "" "" "SEQ" "DNA" "" "" "0000267237" "00266114" "1" "00006" "00006" "2019-10-14 08:02:21" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA" "" "WES" "0000267238" "00266115" "1" "00006" "00006" "2019-10-14 08:02:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000267239" "00266116" "1" "00006" "00006" "2019-10-14 08:02:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000267240" "00266117" "1" "00006" "00006" "2019-10-14 08:02:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000267241" "00266118" "1" "00006" "00006" "2019-10-14 08:02:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000267242" "00266119" "1" "00006" "00006" "2019-10-14 08:02:21" "" "" "SEQ;SEQ-NG" "DNA" "" "89 HSP gene panel" "0000267244" "00266121" "1" "00006" "00006" "2019-10-14 08:18:25" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000267245" "00266122" "1" "00006" "00006" "2019-10-14 08:23:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000267246" "00266123" "1" "00006" "00006" "2019-10-14 08:26:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000267247" "00266124" "1" "00006" "00006" "2019-10-14 08:29:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000267271" "00266149" "1" "00006" "00006" "2019-10-15 02:39:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000267272" "00266150" "1" "00006" "00006" "2019-10-15 02:39:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000267273" "00266151" "1" "00006" "00006" "2019-10-15 02:39:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{geneid}}" "0000064805" "CAPN1" "0000064806" "CAPN1" "0000064807" "CAPN1" "0000267237" "CAPN1" "0000267238" "CAPN1" "0000267239" "CAPN1" "0000267240" "CAPN1" "0000267241" "CAPN1" "0000267242" "CAPN1" "0000267244" "CAPN1" "0000267245" "CAPN1" "0000267246" "CAPN1" "0000267247" "CAPN1" "0000267271" "CAPN1" "0000267272" "CAPN1" "0000267273" "CAPN1" ## 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 = 57 "{{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}}" "0000096426" "3" "90" "11" "64955466" "64955466" "subst" "0" "00006" "CAPN1_000001" "g.64955466G>C" "" "{PMID:Gan-Or 2016:27153400}, {DOI:Gan-Or 2016:10.1016/j.ajhg.2016.04.002}" "" "" "" "Germline" "yes" "" "0" "" "" "g.65187995G>C" "" "pathogenic (recessive)" "" "0000096427" "3" "90" "11" "64974264" "64974264" "subst" "0" "00006" "CAPN1_000002" "g.64974264C>T" "" "{PMID:Gan-Or 2016:27153400}, {DOI:Gan-Or 2016:10.1016/j.ajhg.2016.04.002}" "" "" "" "Germline" "yes" "" "0" "" "" "g.65206793C>T" "" "pathogenic (recessive)" "" "0000096428" "21" "90" "11" "64951014" "64951014" "del" "0" "00006" "CAPN1_000003" "g.64951014del" "" "{PMID:Gan-Or 2016:27153400}, {DOI:Gan-Or 2016:10.1016/j.ajhg.2016.04.002}" "" "406delC" "" "Germline" "yes" "" "0" "" "" "g.65183543del" "" "pathogenic (recessive)" "" "0000096429" "11" "90" "11" "64974295" "64974295" "subst" "0.000125011" "00006" "CAPN1_000004" "g.64974295G>A" "" "{PMID:Gan-Or 2016:27153400}, {DOI:Gan-Or 2016:10.1016/j.ajhg.2016.04.002}" "" "" "" "Germline" "yes" "" "0" "" "" "g.65206824G>A" "" "pathogenic (recessive)" "" "0000269705" "0" "10" "11" "64956204" "64956204" "subst" "0.00238143" "02326" "CAPN1_000007" "g.64956204C>T" "" "" "" "CAPN1(NM_001198868.1):c.1152C>T (p.C384=), CAPN1(NM_005186.4):c.1152C>T (p.C384=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65188733C>T" "" "benign" "" "0000272593" "0" "30" "11" "64956204" "64956204" "subst" "0.00238143" "01943" "CAPN1_000007" "g.64956204C>T" "" "" "" "CAPN1(NM_001198868.1):c.1152C>T (p.C384=), CAPN1(NM_005186.4):c.1152C>T (p.C384=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65188733C>T" "" "likely benign" "" "0000272594" "0" "50" "11" "64975584" "64975584" "subst" "0" "01943" "CAPN1_000008" "g.64975584C>T" "" "" "" "CAPN1(NM_001198868.1):c.1664C>T (p.A555V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65208113C>T" "" "VUS" "" "0000272595" "0" "30" "11" "64953383" "64953383" "subst" "0.000397727" "01943" "CAPN1_000006" "g.64953383C>A" "" "" "" "CAPN1(NM_001198868.1):c.457-5C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65185912C>A" "" "likely benign" "" "0000499858" "0" "90" "11" "64951021" "64951022" "ins" "0" "01807" "CAPN1_000011" "g.64951021_64951022insTAGGCGGAACCATAGCTTCATAGCTT" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.65183550_65183551insTAGGCGGAACCATAGCTTCATAGCTT" "" "pathogenic" "" "0000499859" "0" "90" "11" "64953666" "64953670" "del" "0" "01807" "CAPN1_000010" "g.64953666_64953670del" "" "" "" "616_620delTCAGG" "" "Unknown" "" "" "0" "" "" "g.65186195_65186199del" "" "pathogenic" "" "0000544955" "0" "50" "11" "64950192" "64950192" "subst" "9.00595E-5" "01943" "CAPN1_000012" "g.64950192C>T" "" "" "" "CAPN1(NM_001198868.1):c.20C>T (p.T7M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65182721C>T" "" "VUS" "" "0000544956" "0" "10" "11" "64950331" "64950331" "subst" "0.001321" "01943" "CAPN1_000013" "g.64950331G>A" "" "" "" "CAPN1(NM_001198868.1):c.159G>A (p.G53=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65182860G>A" "" "benign" "" "0000544957" "0" "10" "11" "64950638" "64950638" "subst" "0.00135245" "01943" "CAPN1_000014" "g.64950638A>G" "" "" "" "CAPN1(NM_001198868.1):c.307A>G (p.T103A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65183167A>G" "" "benign" "" "0000544958" "0" "50" "11" "64951019" "64951019" "subst" "0" "01943" "CAPN1_000015" "g.64951019G>C" "" "" "" "CAPN1(NM_001198868.1):c.412G>C (p.G138R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65183548G>C" "" "VUS" "" "0000544959" "0" "50" "11" "64954711" "64954711" "subst" "0.000339041" "02325" "CAPN1_000016" "g.64954711C>A" "" "" "" "CAPN1(NM_001198868.2):c.785C>A (p.A262D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65187240C>A" "" "VUS" "" "0000544960" "0" "50" "11" "64974054" "64974054" "subst" "0.000971632" "01943" "CAPN1_000017" "g.64974054G>A" "" "" "" "CAPN1(NM_001198868.1):c.1474G>A (p.G492R), CAPN1(NM_001198868.2):c.1474G>A (p.G492R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65206583G>A" "" "VUS" "" "0000544961" "0" "10" "11" "64976831" "64976831" "subst" "0.00144273" "01943" "SLC22A20_000002" "g.64976831G>A" "" "" "" "CAPN1(NM_001198868.1):c.1767G>A (p.S589=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65209360G>A" "" "benign" "" "0000598277" "3" "90" "11" "64953810" "64953810" "subst" "0" "00006" "CAPN1_000018" "g.64953810G>A" "" "{PMID:Tadic 2017:28321562}" "" "" "" "Germline" "yes" "" "0" "" "" "g.65186339G>A" "" "pathogenic (recessive)" "" "0000598278" "3" "90" "11" "64955949" "64955949" "subst" "8.20351E-6" "00006" "CAPN1_000019" "g.64955949G>A" "" "{PMID:Kocoglu 2018:29379883}" "" "" "" "Germline" "yes" "" "0" "" "" "g.65188478G>A" "" "pathogenic (recessive)" "" "0000598279" "3" "90" "11" "64972164" "64972164" "subst" "0" "00006" "CAPN1_000020" "g.64972164G>A" "" "{PMID:Kocoglu 2018:29379883}" "" "" "" "Germline" "yes" "" "0" "" "" "g.65204693G>A" "" "pathogenic (recessive)" "" "0000598280" "3" "90" "11" "64972164" "64972164" "subst" "0" "00006" "CAPN1_000020" "g.64972164G>A" "" "{PMID:Kocoglu 2018:29379883}" "" "" "" "Germline" "yes" "" "0" "" "" "g.65204693G>A" "" "pathogenic (recessive)" "" "0000598281" "3" "90" "11" "64974114" "64974114" "subst" "4.06835E-6" "00006" "CAPN1_000021" "g.64974114C>T" "" "{PMID:Lambe 2018:29678961}" "" "" "" "Germline" "" "" "0" "" "" "g.65206643C>T" "" "pathogenic (recessive)" "" "0000598282" "21" "70" "11" "64955493" "64955493" "subst" "8.56888E-5" "00006" "CAPN1_000022" "g.64955493C>T" "" "{PMID:Travaglini 2017:28566166}" "" "" "" "Germline" "" "" "0" "" "" "g.65188022C>T" "" "likely pathogenic (recessive)" "" "0000598283" "3" "90" "11" "64950669" "64950669" "subst" "0" "00006" "CAPN1_000023" "g.64950669G>A" "" "{PMID:Wang 2016:27320912}" "" "" "" "Germline" "yes" "" "0" "" "" "g.65183198G>A" "" "pathogenic (recessive)" "" "0000598285" "3" "90" "11" "64950360" "64950360" "dup" "0" "00006" "CAPN1_000024" "g.64950360dup" "" "{PMID:Wang 2016:27320912}" "" "183dupC" "" "Germline" "" "" "0" "" "" "g.65182889dup" "" "pathogenic (recessive)" "" "0000598286" "3" "90" "11" "64974114" "64974114" "subst" "4.06835E-6" "00006" "CAPN1_000021" "g.64974114C>T" "" "{PMID:Wang 2016:27320912}" "" "" "" "Germline" "yes" "" "0" "" "" "g.65206643C>T" "" "pathogenic (recessive)" "" "0000598287" "1" "90" "11" "64953394" "64953394" "subst" "0" "00006" "CAPN1_000025" "g.64953394C>T" "" "{PMID:Wang 2016:27320912}" "" "C463T" "" "Germline" "" "" "0" "" "" "g.65185923C>T" "" "pathogenic (recessive)" "" "0000598288" "2" "90" "11" "64956194" "64956194" "subst" "2.11923E-5" "00006" "CAPN1_000026" "g.64956194C>T" "" "{PMID:Wang 2016:27320912}" "" "C1142T" "" "Germline" "" "" "0" "" "" "g.65188723C>T" "" "pathogenic (recessive)" "" "0000598313" "11" "70" "11" "64950393" "64950393" "subst" "0.000317576" "00006" "CAPN1_000027" "g.64950393G>A" "" "{PMID:Travaglini 2017:28566166}" "" "" "" "Germline" "" "" "0" "" "" "g.65182922G>A" "" "likely pathogenic (recessive)" "" "0000598314" "11" "70" "11" "64973998" "64973998" "subst" "1.62594E-5" "00006" "CAPN1_000028" "g.64973998G>T" "" "{PMID:Travaglini 2017:28566166}" "" "" "" "Germline" "" "" "0" "" "" "g.65206527G>T" "" "likely pathogenic (recessive)" "" "0000598315" "3" "90" "11" "64978344" "64978344" "subst" "0" "00006" "CAPN1_000029" "g.64978344G>T" "" "{PMID:Shetty 2018:30572172}" "" "" "" "Germline" "" "" "0" "" "" "g.65210873G>T" "" "pathogenic (recessive)" "" "0000598316" "3" "90" "11" "64951004" "64951004" "subst" "0" "00006" "CAPN1_000009" "g.64951004C>T" "" "{PMID:Shetty 2018:30572172}" "" "" "" "Germline" "yes" "" "0" "" "" "g.65183533C>T" "" "pathogenic (recessive)" "" "0000598317" "3" "90" "11" "64954770" "64954770" "subst" "8.30958E-6" "00006" "CAPN1_000030" "g.64954770G>C" "" "{PMID:Shetty 2018:30572172}" "" "" "" "Germline" "" "" "0" "" "" "g.65187299G>C" "" "pathogenic (recessive)" "" "0000613541" "0" "70" "11" "64950441" "64950441" "subst" "6.52848E-5" "02326" "CAPN1_000031" "g.64950441T>C" "" "" "" "CAPN1(NM_005186.4):c.267+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65182970T>C" "" "likely pathogenic" "" "0000613542" "0" "50" "11" "64956122" "64956122" "subst" "4.06517E-6" "02327" "CAPN1_000032" "g.64956122C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65188651C>T" "" "VUS" "" "0000656839" "0" "10" "11" "64950970" "64950970" "subst" "0.295098" "02327" "CAPN1_000033" "g.64950970C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65183499C>T" "" "benign" "" "0000656840" "0" "50" "11" "64956155" "64956155" "subst" "0" "01943" "CAPN1_000034" "g.64956155C>T" "" "" "" "CAPN1(NM_001198868.1):c.1103C>T (p.T368I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65188684C>T" "" "VUS" "" "0000656841" "0" "30" "11" "64972339" "64972339" "subst" "0" "01943" "CAPN1_000035" "g.64972339G>A" "" "" "" "CAPN1(NM_001198868.1):c.1341+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65204868G>A" "" "likely benign" "" "0000656842" "0" "50" "11" "64974054" "64974054" "subst" "0.000971632" "02325" "CAPN1_000017" "g.64974054G>A" "" "" "" "CAPN1(NM_001198868.1):c.1474G>A (p.G492R), CAPN1(NM_001198868.2):c.1474G>A (p.G492R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65206583G>A" "" "VUS" "" "0000656843" "0" "30" "11" "64976845" "64976845" "subst" "0.00210428" "01943" "SLC22A20_000003" "g.64976845T>C" "" "" "" "CAPN1(NM_001198868.1):c.1781T>C (p.V594A), CAPN1(NM_001198868.2):c.1781T>C (p.V594A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65209374T>C" "" "likely benign" "" "0000656844" "0" "10" "11" "64977937" "64977937" "subst" "0.762435" "02327" "SLC22A20_000004" "g.64977937A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65210466A>G" "" "benign" "" "0000679261" "0" "50" "11" "64977354" "64977354" "subst" "0.000341658" "02325" "SLC22A20_000005" "g.64977354T>G" "" "" "" "CAPN1(NM_001198868.2):c.1829T>G (p.F610C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691124" "0" "30" "11" "64954757" "64954757" "subst" "0" "01943" "CAPN1_000036" "g.64954757C>A" "" "" "" "CAPN1(NM_001198868.1):c.831C>A (p.T277=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691125" "0" "30" "11" "64976845" "64976845" "subst" "0.00210428" "02326" "SLC22A20_000003" "g.64976845T>C" "" "" "" "CAPN1(NM_001198868.1):c.1781T>C (p.V594A), CAPN1(NM_001198868.2):c.1781T>C (p.V594A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723577" "0" "30" "11" "64953450" "64953450" "subst" "0.000222381" "01943" "CAPN1_000037" "g.64953450G>A" "" "" "" "CAPN1(NM_001198868.1):c.519G>A (p.G173=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723578" "0" "50" "11" "64953787" "64953787" "subst" "2.46196E-5" "02325" "CAPN1_000038" "g.64953787C>T" "" "" "" "CAPN1(NM_001198868.2):c.737C>T (p.S246F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805256" "0" "30" "11" "64974282" "64974282" "subst" "0.00150002" "01943" "CAPN1_000039" "g.64974282C>T" "" "" "" "CAPN1(NM_001198868.1):c.1597C>T (p.P533S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853079" "0" "50" "11" "64956077" "64956077" "subst" "4.06332E-6" "01943" "CAPN1_000040" "g.64956077T>C" "" "" "" "CAPN1(NM_001198868.1):c.1025T>C (p.M342T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853080" "0" "50" "11" "64975532" "64975532" "subst" "0" "02325" "CAPN1_000041" "g.64975532C>T" "" "" "" "CAPN1(NM_001198868.2):c.1612C>T (p.L538F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862630" "0" "50" "11" "64975703" "64975703" "subst" "0.000193061" "01943" "CAPN1_000042" "g.64975703C>T" "" "" "" "CAPN1(NM_001198868.1):c.1699C>T (p.R567W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890056" "0" "30" "11" "64972308" "64972308" "subst" "0.000914617" "02326" "CAPN1_000043" "g.64972308T>A" "" "" "" "CAPN1(NM_001198868.2):c.1320T>A (p.T440=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890057" "0" "70" "11" "64974295" "64974295" "subst" "0.000125011" "02327" "CAPN1_000004" "g.64974295G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000913652" "0" "50" "11" "64974036" "64974036" "subst" "5.68967E-5" "02325" "CAPN1_000044" "g.64974036C>T" "" "" "" "CAPN1(NM_001198868.2):c.1456C>T (p.R486C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966482" "0" "50" "11" "64955904" "64955904" "subst" "2.0545E-5" "02329" "CAPN1_000045" "g.64955904G>A" "" "" "" "CAPN1(NM_005186.4):c.949G>A (p.V317M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966483" "0" "50" "11" "64976830" "64976830" "subst" "1.63032E-5" "02326" "SLC22A20_000006" "g.64976830C>T" "" "" "" "CAPN1(NM_001198868.2):c.1766C>T (p.S589L), CAPN1(NM_005186.4):c.1766C>T (p.S589L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014858" "0" "30" "11" "64977890" "64977890" "subst" "0.00231735" "02326" "SLC22A20_000008" "g.64977890G>A" "" "" "" "CAPN1(NM_001198868.2):c.2026G>A (p.V676I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046322" "0" "30" "11" "64974054" "64974054" "subst" "0.000971632" "02326" "CAPN1_000017" "g.64974054G>A" "" "" "" "CAPN1(NM_001198868.1):c.1474G>A (p.G492R), CAPN1(NM_001198868.2):c.1474G>A (p.G492R)" "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 CAPN1 ## Count = 57 "{{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}}" "0000096426" "00024125" "90" "884" "0" "884" "0" "c.884G>C" "r.(?)" "p.(Arg295Pro)" "8" "0000096427" "00024125" "90" "1579" "0" "1579" "0" "c.1579C>T" "r.(?)" "p.(Gln527*)" "14" "0000096428" "00024125" "90" "407" "0" "407" "0" "c.407del" "r.(?)" "p.(Pro136Argfs*40)" "4" "0000096429" "00024125" "90" "1605" "5" "1605" "5" "c.1605+5G>A" "r.1566_1605del" "p.Glu523Lysfs*28" "14i" "0000269705" "00024125" "10" "1152" "0" "1152" "0" "c.1152C>T" "r.(?)" "p.(Cys384=)" "" "0000272593" "00024125" "30" "1152" "0" "1152" "0" "c.1152C>T" "r.(?)" "p.(Cys384=)" "" "0000272594" "00024125" "50" "1664" "0" "1664" "0" "c.1664C>T" "r.(?)" "p.(Ala555Val)" "" "0000272595" "00024125" "30" "457" "-5" "457" "-5" "c.457-5C>A" "r.spl?" "p.?" "" "0000499858" "00024125" "90" "414" "0" "415" "0" "c.414_415insTAGGCGGAACCATAGCTTCATAGCTT" "r.(?)" "p.(Gln139*)" "" "0000499859" "00024125" "90" "616" "0" "620" "0" "c.616_620del" "r.(?)" "p.(Ser206Glyfs*8)" "" "0000544955" "00024125" "50" "20" "0" "20" "0" "c.20C>T" "r.(?)" "p.(Thr7Met)" "" "0000544956" "00024125" "10" "159" "0" "159" "0" "c.159G>A" "r.(?)" "p.(Gly53=)" "" "0000544957" "00024125" "10" "307" "0" "307" "0" "c.307A>G" "r.(?)" "p.(Thr103Ala)" "" "0000544958" "00024125" "50" "412" "0" "412" "0" "c.412G>C" "r.(?)" "p.(Gly138Arg)" "" "0000544959" "00024125" "50" "785" "0" "785" "0" "c.785C>A" "r.(?)" "p.(Ala262Asp)" "" "0000544960" "00024125" "50" "1474" "0" "1474" "0" "c.1474G>A" "r.(?)" "p.(Gly492Arg)" "" "0000544961" "00024125" "10" "1767" "0" "1767" "0" "c.1767G>A" "r.(?)" "p.(Ser589=)" "" "0000598277" "00024125" "90" "759" "1" "759" "1" "c.759+1G>A" "r.591_759del" "p.Val198Serfs*6" "" "0000598278" "00024125" "90" "994" "0" "994" "0" "c.994G>A" "r.(?)" "p.(Gly332Arg)" "" "0000598279" "00024125" "90" "1176" "0" "1176" "0" "c.1176G>A" "r.(?)" "p.(Trp392*)" "" "0000598280" "00024125" "90" "1176" "0" "1176" "0" "c.1176G>A" "r.(?)" "p.(Trp392*)" "" "0000598281" "00024125" "90" "1534" "0" "1534" "0" "c.1534C>T" "r.(?)" "p.(Arg512Cys)" "" "0000598282" "00024125" "70" "911" "0" "911" "0" "c.911C>T" "r.(?)" "p.(Thr340Met)" "" "0000598283" "00024125" "90" "337" "1" "337" "1" "c.337+1G>A" "r.337_338ins[a;337+1_337+27]" "p.Leu112_Gly113insDRPPGGRVP" "" "0000598285" "00024125" "90" "188" "0" "188" "0" "c.188dup" "r.(?)" "p.(Val64Glyfs*103)" "" "0000598286" "00024125" "90" "1534" "0" "1534" "0" "c.1534C>T" "r.(?)" "p.(Arg512Cys)" "" "0000598287" "00024125" "90" "463" "0" "463" "0" "c.463C>T" "r.(?)" "p.(Gln155*)" "" "0000598288" "00024125" "90" "1142" "0" "1142" "0" "c.1142C>T" "r.(?)" "p.(Ala381Val)" "" "0000598313" "00024125" "70" "221" "0" "221" "0" "c.221G>A" "r.(?)" "p.(Gly74Asp)" "" "0000598314" "00024125" "70" "1418" "0" "1418" "0" "c.1418G>T" "r.(?)" "p.(Arg473Leu)" "" "0000598315" "00024125" "90" "2118" "1" "2118" "1" "c.2118+1G>T" "r.spl" "p.?" "" "0000598316" "00024125" "90" "397" "0" "397" "0" "c.397C>T" "r.(?)" "p.(Arg133*)" "" "0000598317" "00024125" "90" "843" "1" "843" "1" "c.843+1G>C" "r.spl" "p.?" "" "0000613541" "00024125" "70" "267" "2" "267" "2" "c.267+2T>C" "r.spl?" "p.?" "" "0000613542" "00024125" "50" "1070" "0" "1070" "0" "c.1070C>T" "r.(?)" "p.(Ala357Val)" "" "0000656839" "00024125" "10" "363" "0" "363" "0" "c.363C>T" "r.(?)" "p.(Ile121=)" "" "0000656840" "00024125" "50" "1103" "0" "1103" "0" "c.1103C>T" "r.(?)" "p.(Thr368Ile)" "" "0000656841" "00024125" "30" "1341" "10" "1341" "10" "c.1341+10G>A" "r.(=)" "p.(=)" "" "0000656842" "00024125" "50" "1474" "0" "1474" "0" "c.1474G>A" "r.(?)" "p.(Gly492Arg)" "" "0000656843" "00024125" "30" "1781" "0" "1781" "0" "c.1781T>C" "r.(?)" "p.(Val594Ala)" "" "0000656844" "00024125" "10" "2059" "14" "2059" "14" "c.2059+14A>G" "r.(=)" "p.(=)" "" "0000679261" "00024125" "50" "1829" "0" "1829" "0" "c.1829T>G" "r.(?)" "p.(Phe610Cys)" "" "0000691124" "00024125" "30" "831" "0" "831" "0" "c.831C>A" "r.(?)" "p.(Thr277=)" "" "0000691125" "00024125" "30" "1781" "0" "1781" "0" "c.1781T>C" "r.(?)" "p.(Val594Ala)" "" "0000723577" "00024125" "30" "519" "0" "519" "0" "c.519G>A" "r.(?)" "p.(Gly173=)" "" "0000723578" "00024125" "50" "737" "0" "737" "0" "c.737C>T" "r.(?)" "p.(Ser246Phe)" "" "0000805256" "00024125" "30" "1597" "0" "1597" "0" "c.1597C>T" "r.(?)" "p.(Pro533Ser)" "" "0000853079" "00024125" "50" "1025" "0" "1025" "0" "c.1025T>C" "r.(?)" "p.(Met342Thr)" "" "0000853080" "00024125" "50" "1612" "0" "1612" "0" "c.1612C>T" "r.(?)" "p.(Leu538Phe)" "" "0000862630" "00024125" "50" "1699" "0" "1699" "0" "c.1699C>T" "r.(?)" "p.(Arg567Trp)" "" "0000890056" "00024125" "30" "1320" "0" "1320" "0" "c.1320T>A" "r.(?)" "p.(Thr440=)" "" "0000890057" "00024125" "70" "1605" "5" "1605" "5" "c.1605+5G>A" "r.spl?" "p.?" "" "0000913652" "00024125" "50" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Cys)" "" "0000966482" "00024125" "50" "949" "0" "949" "0" "c.949G>A" "r.(?)" "p.(Val317Met)" "" "0000966483" "00024125" "50" "1766" "0" "1766" "0" "c.1766C>T" "r.(?)" "p.(Ser589Leu)" "" "0001014858" "00024125" "30" "2026" "0" "2026" "0" "c.2026G>A" "r.(?)" "p.(Val676Ile)" "" "0001046322" "00024125" "30" "1474" "0" "1474" "0" "c.1474G>A" "r.(?)" "p.(Gly492Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{variantid}}" "0000064805" "0000096426" "0000064806" "0000096427" "0000064807" "0000096428" "0000064807" "0000096429" "0000247014" "0000499858" "0000247014" "0000499859" "0000267237" "0000598277" "0000267238" "0000598278" "0000267239" "0000598279" "0000267240" "0000598280" "0000267241" "0000598281" "0000267242" "0000598282" "0000267242" "0000598313" "0000267242" "0000598314" "0000267244" "0000598283" "0000267245" "0000598285" "0000267246" "0000598286" "0000267247" "0000598287" "0000267247" "0000598288" "0000267271" "0000598315" "0000267272" "0000598316" "0000267273" "0000598317"