### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = SOLH)
# 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}}"
"SOLH" "small optic lobes homolog (Drosophila)" "16" "p13.3" "unknown" "NC_000016.9" "UD_132437291470" "" "https://www.LOVD.nl/CAPN15" "" "1" "11182" "6650" "603267" "1" "1" "1" "1" "NOTE: gene name changed from SOLH to CAPN15\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from SOLH to CAPN15" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-06-11 14:37:47" "00000" "2025-11-01 13:22:20"
## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00020017" "SOLH" "small optic lobes homolog (Drosophila)" "001" "NM_005632.2" "" "NP_005623.1" "" "" "" "-363" "4381" "3261" "577856" "604636" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 2
"{{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"
"00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"SOLH" "00296"
## 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}}"
"00303387" "" "" "" "1" "" "00006" "Zha ESHG2020 C06.4" "4-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat1"
"00303388" "" "" "" "1" "" "00006" "Zha ESHG2020 C06.4" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat2"
"00303389" "" "" "" "1" "" "00006" "Zha ESHG2020 C06.4" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Pat3"
"00303390" "" "" "" "2" "" "00006" "Zha ESHG2020 C06.4" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "F;M" "yes" "Canada" "" "0" "" "" "" "Pat4/5"
"00336000" "" "" "" "1" "" "00000" "{PMID:Sergouniotis 2016:27628848}" "analysis 181 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 5
"{{individualid}}" "{{diseaseid}}"
"00303387" "00198"
"00303388" "00198"
"00303389" "00198"
"00303390" "00198"
"00336000" "00296"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00296
## Count = 5
"{{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}}"
"0000230463" "00198" "00303387" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" ""
"0000230464" "00198" "00303388" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" ""
"0000230465" "00198" "00303389" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" ""
"0000230466" "00198" "00303390" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" ""
"0000253915" "00296" "00336000" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "childhood cataract" ""
## 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}}"
"0000304513" "00303387" "1" "00006" "00006" "2020-06-11 14:39:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000304514" "00303388" "1" "00006" "00006" "2020-06-11 14:39:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000304515" "00303389" "1" "00006" "00006" "2020-06-11 14:39:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000304516" "00303390" "1" "00006" "00006" "2020-06-11 14:39:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000337230" "00336000" "1" "00000" "00006" "2021-03-10 17:05:56" "" "" "SEQ-NG" "DNA" "" "gene panel"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 5
"{{screeningid}}" "{{geneid}}"
"0000304513" "SOLH"
"0000304514" "SOLH"
"0000304515" "SOLH"
"0000304516" "SOLH"
"0000337230" "SOLH"
## 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 = 27
"{{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}}"
"0000558681" "0" "30" "16" "597527" "597527" "subst" "0.000439634" "01943" "SOLH_000002" "g.597527C>T" "" "" "" "CAPN15(NM_005632.3):c.689C>T (p.P230L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.547527C>T" "" "likely benign" ""
"0000558682" "0" "50" "16" "601409" "601409" "subst" "5.73893E-5" "01943" "SOLH_000003" "g.601409G>A" "" "" "" "CAPN15(NM_005632.3):c.2174G>A (p.R725Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.551409G>A" "" "VUS" ""
"0000558683" "0" "50" "16" "602172" "602172" "subst" "5.16125E-5" "01943" "SOLH_000004" "g.602172C>T" "" "" "" "CAPN15(NM_005632.3):c.2467C>T (p.R823W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.552172C>T" "" "VUS" ""
"0000558684" "0" "30" "16" "602374" "602374" "subst" "0.000140531" "01943" "SOLH_000005" "g.602374G>A" "" "" "" "CAPN15(NM_005632.3):c.2581G>A (p.G861S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.552374G>A" "" "likely benign" ""
"0000558685" "0" "50" "16" "602653" "602653" "subst" "0" "01943" "SOLH_000006" "g.602653G>A" "" "" "" "CAPN15(NM_005632.3):c.2786G>A (p.G929D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.552653G>A" "" "VUS" ""
"0000667964" "3" "90" "16" "602863" "602863" "subst" "0" "00006" "SOLH_000010" "g.602863G>A" "" "Zha ESHG2020 C06.4" "" "" "" "Germline" "" "" "0" "" "" "g.552863G>A" "" "pathogenic (recessive)" ""
"0000667965" "1" "90" "16" "601394" "601394" "subst" "0" "00006" "SOLH_000011" "g.601394C>T" "" "Zha ESHG2020 C06.4" "" "" "" "Germline" "" "" "0" "" "" "g.551394C>T" "" "pathogenic (recessive)" ""
"0000667966" "3" "90" "16" "603041" "603041" "subst" "0" "00006" "SOLH_000009" "g.603041G>A" "" "Zha ESHG2020 C06.4" "" "" "" "Germline" "" "" "0" "" "" "g.553041G>A" "" "pathogenic (recessive)" ""
"0000667967" "3" "90" "16" "599467" "599467" "subst" "1.45083E-5" "00006" "SOLH_000008" "g.599467C>T" "" "Zha ESHG2020 C06.4" "" "" "" "Germline" "" "" "0" "" "" "g.549467C>T" "" "pathogenic (recessive)" ""
"0000667968" "2" "90" "16" "602103" "602103" "subst" "0" "00006" "SOLH_000012" "g.602103C>T" "" "Zha ESHG2020 C06.4" "" "" "" "Germline" "" "" "0" "" "" "g.552103C>T" "" "pathogenic (recessive)" ""
"0000692104" "0" "30" "16" "602502" "602502" "subst" "0.000214208" "01943" "SOLH_000013" "g.602502G>A" "" "" "" "CAPN15(NM_005632.3):c.2709G>A (p.P903=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000736860" "0" "50" "16" "597214" "597219" "del" "0" "00000" "SOLH_000014" "g.597214_597219del" "1/181 individuals" "{PMID:Sergouniotis 2016:27628848}" "" "" "no genotypes reported" "Germline" "" "rs771271054" "0" "" "" "g.547214_547219del" "" "VUS" ""
"0000981981" "0" "50" "16" "599780" "599780" "subst" "0" "01804" "SOLH_000015" "g.599780G>A" "" "" "" "CAPN15(NM_005632.3):c.2008G>A (p.(Glu670Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000981982" "0" "30" "16" "602501" "602501" "subst" "0.000590031" "01804" "SOLH_000016" "g.602501C>T" "" "" "" "CAPN15(NM_005632.3):c.2708C>T (p.(Pro903Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001002463" "0" "30" "16" "597112" "597112" "subst" "0.000606004" "01804" "SOLH_000017" "g.597112G>A" "" "" "" "CAPN15(NM_005632.2):c.274G>A (p.(Ala92Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001002464" "0" "50" "16" "597214" "597219" "del" "0" "01804" "SOLH_000014" "g.597214_597219del" "" "" "" "CAPN15(NM_005632.2):c.376_381delAAGGAC (p.(Lys126_Asp127del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001002465" "0" "50" "16" "597920" "597921" "ins" "0" "01804" "SOLH_000018" "g.597920_597921insAGCCGAGCGCCCG" "" "" "" "CAPN15(NM_005632.2):c.1082_1083insAGCCGAGCGCCCG (p.(Cys363fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001002466" "0" "50" "16" "597924" "597925" "ins" "0" "01804" "SOLH_000019" "g.597924_597925insAGTGGGCCTGCCCTGCCTGTACCCTGCTCAACGCAC" "" "" "" "CAPN15(NM_005632.2):c.1086_1087insAGTGGGCCTGCCCTGCCTGTACCCTGCTCAACGCAC (p.(Ala362_Cys363insSerGlyProAlaLeuProValProCysSerThrHis))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001002467" "0" "50" "16" "602155" "602155" "subst" "0.0002011" "01804" "SOLH_000020" "g.602155C>T" "" "" "" "CAPN15(NM_005632.2):c.2450C>T (p.(Ala817Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001002468" "0" "50" "16" "602713" "602713" "subst" "7.27304E-6" "01804" "SOLH_000021" "g.602713C>T" "" "" "" "CAPN15(NM_005632.2):c.2846C>T (p.(Pro949Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001002469" "0" "50" "16" "602974" "602974" "subst" "0.000258186" "01804" "SOLH_000022" "g.602974G>A" "" "" "" "CAPN15(NM_005632.2):c.3016G>A (p.(Asp1006Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001015404" "0" "50" "16" "599648" "599648" "subst" "0" "02329" "SOLH_000023" "g.599648G>A" "" "" "" "CAPN15(NM_005632.3):c.1876G>A (p.E626K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001041234" "0" "50" "16" "597039" "597039" "subst" "0" "01804" "SOLH_000024" "g.597039C>T" "" "" "" "CAPN15(NM_005632.3):c.201C>T (p.(Cys67=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001041235" "0" "50" "16" "599298" "599298" "subst" "0" "01804" "SOLH_000025" "g.599298G>A" "" "" "" "CAPN15(NM_005632.3):c.1669G>A (p.(Ala557Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001055287" "0" "50" "16" "597040" "597040" "subst" "0.00072916" "01804" "SOLH_000026" "g.597040G>A" "" "" "" "CAPN15(NM_005632.3):c.202G>A (p.(Gly68Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001055288" "0" "50" "16" "597412" "597412" "subst" "0.000501921" "01804" "SOLH_000027" "g.597412G>A" "" "" "" "CAPN15(NM_005632.3):c.574G>A (p.(Gly192Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001055289" "0" "50" "16" "602302" "602302" "subst" "0" "01804" "SOLH_000028" "g.602302C>T" "" "" "" "CAPN15(NM_005632.3):c.2509C>T (p.(Arg837Cys))" "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 SOLH
## Count = 27
"{{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}}"
"0000558681" "00020017" "30" "689" "0" "689" "0" "c.689C>T" "r.(?)" "p.(Pro230Leu)" ""
"0000558682" "00020017" "50" "2174" "0" "2174" "0" "c.2174G>A" "r.(?)" "p.(Arg725Gln)" ""
"0000558683" "00020017" "50" "2467" "0" "2467" "0" "c.2467C>T" "r.(?)" "p.(Arg823Trp)" ""
"0000558684" "00020017" "30" "2581" "0" "2581" "0" "c.2581G>A" "r.(?)" "p.(Gly861Ser)" ""
"0000558685" "00020017" "50" "2786" "0" "2786" "0" "c.2786G>A" "r.(?)" "p.(Gly929Asp)" ""
"0000667964" "00020017" "90" "2905" "0" "2905" "0" "c.2905G>A" "r.(?)" "p.(Gly969Ser)" ""
"0000667965" "00020017" "90" "2159" "0" "2159" "0" "c.2159C>T" "r.(?)" "p.(Ser720Phe)" ""
"0000667966" "00020017" "90" "3083" "0" "3083" "0" "c.3083G>A" "r.(?)" "p.(Arg1028Lys)" ""
"0000667967" "00020017" "90" "1838" "0" "1838" "0" "c.1838C>T" "r.(?)" "p.(Ser613Leu)" ""
"0000667968" "00020017" "90" "2398" "0" "2398" "0" "c.2398C>T" "r.(?)" "p.(Arg800Trp)" ""
"0000692104" "00020017" "30" "2709" "0" "2709" "0" "c.2709G>A" "r.(?)" "p.(Pro903=)" ""
"0000736860" "00020017" "50" "376" "0" "381" "0" "c.376_381del" "r.(?)" "p.(Lys126_Asp127del)" ""
"0000981981" "00020017" "50" "2008" "0" "2008" "0" "c.2008G>A" "r.(?)" "p.(Glu670Lys)" ""
"0000981982" "00020017" "30" "2708" "0" "2708" "0" "c.2708C>T" "r.(?)" "p.(Pro903Leu)" ""
"0001002463" "00020017" "30" "274" "0" "274" "0" "c.274G>A" "r.(?)" "p.(Ala92Thr)" ""
"0001002464" "00020017" "50" "376" "0" "381" "0" "c.376_381del" "r.(?)" "p.(Lys126_Asp127del)" ""
"0001002465" "00020017" "50" "1082" "0" "1083" "0" "c.1082_1083insAGCCGAGCGCCCG" "r.(?)" "p.(Cys363Glufs*133)" ""
"0001002466" "00020017" "50" "1086" "0" "1087" "0" "c.1086_1087insAGTGGGCCTGCCCTGCCTGTACCCTGCTCAACGCAC" "r.(?)" "p.(Ala362_Cys363insSerGlyProAlaLeuProValProCysSerThrHis)" ""
"0001002467" "00020017" "50" "2450" "0" "2450" "0" "c.2450C>T" "r.(?)" "p.(Ala817Val)" ""
"0001002468" "00020017" "50" "2846" "0" "2846" "0" "c.2846C>T" "r.(?)" "p.(Pro949Leu)" ""
"0001002469" "00020017" "50" "3016" "0" "3016" "0" "c.3016G>A" "r.(?)" "p.(Asp1006Asn)" ""
"0001015404" "00020017" "50" "1876" "0" "1876" "0" "c.1876G>A" "r.(?)" "p.(Glu626Lys)" ""
"0001041234" "00020017" "50" "201" "0" "201" "0" "c.201C>T" "r.(?)" "p.(=)" ""
"0001041235" "00020017" "50" "1669" "0" "1669" "0" "c.1669G>A" "r.(?)" "p.(Ala557Thr)" ""
"0001055287" "00020017" "50" "202" "0" "202" "0" "c.202G>A" "r.(?)" "p.(Gly68Ser)" ""
"0001055288" "00020017" "50" "574" "0" "574" "0" "c.574G>A" "r.(?)" "p.(Gly192Ser)" ""
"0001055289" "00020017" "50" "2509" "0" "2509" "0" "c.2509C>T" "r.(?)" "p.(Arg837Cys)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}" "{{variantid}}"
"0000304513" "0000667964"
"0000304514" "0000667965"
"0000304514" "0000667968"
"0000304515" "0000667966"
"0000304516" "0000667967"
"0000337230" "0000736860"