### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CRYBA4) # 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}}" "CRYBA4" "crystallin, beta A4" "22" "q12.1" "no" "NG_009825.1" "UD_132085428635" "" "https://www.LOVD.nl/CRYBA4" "" "1" "2396" "1413" "123631" "1" "1" "1" "1" "original source the Congenital Cataract Mutation Database (CCMdb)
This database is one of the \"Eye disease\" gene variant databases." "" "g" "http://databases.lovd.nl/shared/refseq/CRYBA4_NM_001886.2_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2007-06-21 00:00:00" "00006" "2019-08-09 11:06:54" "00006" "2025-11-09 20:55:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00005712" "CRYBA4" "crystallin, beta A4" "001" "NM_001886.2" "" "NP_001877.1" "" "" "" "-35" "776" "591" "27017928" "27026636" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "00312" "FAP1" "adenomatous polyposis, familial, type 1 (FAP-1, Gardner syndrome)" "AD" "175100" "" "" "" "00006" "2014-01-27 14:53:36" "00006" "2021-12-10 21:51:32" "02939" "CTRCT23" "cataract, type 23 (CTRCT-23, lamellar)" "" "610425" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04267" "-" "glaucoma" "" "" "" "" "" "00006" "2015-05-14 15:50:28" "" "" "05165" "CCTRCT" "cataract, congenital (CCTRCT)" "" "" "" "" "" "00006" "2016-05-15 20:37:47" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "CRYBA4" "00296" "CRYBA4" "02939" ## Individuals ## Do not remove or alter this header ## ## Count = 38 "{{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}}" "00013703" "" "" "" "1" "" "00100" "" "" "M" "" "Germany" "" "" "no (pedigree)" "" "" "" "00033895" "" "" "" "1" "" "00006" "{PMID:Billingsley 2006:16960806}" "" "" "" "" "" "0" "" "" "" "" "00033896" "" "" "" "21" "" "00006" "{PMID:Billingsley 2006:16960806}" "4-generation family, 21 affected Fs, 1 male" "" "" "India" "" "0" "" "" "" "" "00033940" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00033941" "" "" "" "4" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00033942" "" "" "" "2" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00033943" "" "" "" "2" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00033944" "" "" "" "2" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00033945" "" "" "" "2" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00033946" "" "" "" "11" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00033947" "" "" "" "18" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00033948" "" "" "" "20" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00033949" "" "" "" "9" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00034004" "" "" "" "2" "" "00006" "" "3-generation family, 2 affecteds (father and son)" "" "" "China" "" "0" "" "" "" "" "00050276" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "uninherited diplotypes" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00056432" "" "" "" "17" "" "01497" "{PMID:Siggs 2017:28272538}, {DOI:Siggs 2017:10.1038/ejhg.2017.33}" "6-generation family, 17 affected (8F, 9M)" "F;M" "no" "Australia" "" "0" "" "" "" "FamCSA106" "00260868" "" "" "" "3" "" "00006" "{PMID:Chen 2017:28418495}" "4-generation family, 3 affected (3M), unaffected heterozygous carrier parents/relatives" "M" "" "" "" "0" "" "" "" "Fam60038" "00293079" "" "" "" "12" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293080" "" "" "" "12" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00336002" "" "" "" "1" "" "00000" "{PMID:Sergouniotis 2016:27628848}" "analysis 181 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00363775" "" "" "" "1" "" "00000" "{PMID:Huang 2015:26310487}" "family" "F" "" "China" "" "0" "" "" "" "G644" "00363776" "" "" "" "1" "" "00000" "{PMID:Huang 2015:26310487}" "family" "M" "" "China" "" "0" "" "" "" "G603" "00383388" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31555371}" "Family 4, individual III-4" "F" "" "China" "" "0" "" "" "" "4_III-4" "00383389" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31555371}" "Family 4, individual II-3" "M" "" "China" "" "0" "" "" "" "4_II-3" "00383391" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31555371}" "Family 6, individual III-2" "F" "" "China" "" "0" "" "" "" "6_III-2" "00384236" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "12646" "00434029" "" "" "" "4" "" "00006" "{PMID:Zhai 2017:28450710}" "3-generation family, 4 affected (F, 3M)" "M" "" "China" "" "0" "" "" "" "Fam1" "00434129" "" "" "" "2" "" "00006" "{PMID:Li 2019:31842807}" "2-generation family, affected mother/son" "M" "" "China" "" "0" "" "" "" "Fam1PatII1" "00434130" "" "" "" "3" "" "00006" "{PMID:Li 2019:31842807}" "2-generation family, affected mother/2 daughters" "F" "" "China" "" "0" "" "" "" "Fam2PatII1" "00434132" "" "" "" "4" "" "00006" "{PMID:Li 2019:31842807}" "4-generation family, 4 affected (2F, 2M)" "F" "" "China" "" "0" "" "" "" "Fam4PatIV1" "00434157" "" "" "" "1" "" "00006" "{PMID:Fernandez-Alcalde 2021:33923544}" "" "" "" "Spain" "" "0" "" "" "" "Fam02" "00444328" "" "" "" "2" "" "00006" "{PMID:Li 2018:29914532}" "3-generation family, affected mother/daughter" "F" "" "China" "" "0" "" "" "" "Fam3PatII2" "00444916" "" "" "" "5" "" "00006" "{PMID:Ma 2016:26694549}" "3-generation family, 5 affected (F, 4M)" "F" "" "Australia" "" "0" "" "" "" "Fam33PatII2" "00446470" "" "" "" "1" "" "00006" "{PMID:Liu 2023:37337769}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "China" "" "0" "" "" "" "Fam66Pat180" "00468291" "" "" "" "1" "" "00006" "{PMID:Guo 2025:40449652}" "patient, no family history" "M" "" "China" "" "0" "" "" "" "Fam8Pat14385" "00468292" "" "" "" "2" "" "00006" "{PMID:Guo 2025:40449652}" "family, several affected" "M" "" "China" "" "0" "" "" "" "Fam9Pat8044" "00468366" "" "" "" "2" "" "00006" "{PMID:Guo 2025:40449652}" "family, several affected" "M" "" "China" "" "0" "" "" "" "Fam61Pat15542" "00468453" "" "" "" "2" "" "00006" "{PMID:Wang 2024:38184101}" "family" "F" "" "China" "" "0" "" "" "" "Pat12" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 38 "{{individualid}}" "{{diseaseid}}" "00013703" "00312" "00033895" "00296" "00033896" "00296" "00033940" "00296" "00033941" "00000" "00033942" "00296" "00033943" "00296" "00033944" "00296" "00033945" "00296" "00033946" "00000" "00033947" "00000" "00033948" "00000" "00033949" "00000" "00034004" "00296" "00050276" "00198" "00056432" "00296" "00260868" "00296" "00293079" "00198" "00293080" "00198" "00336002" "00296" "00363775" "04267" "00363776" "04267" "00383388" "05165" "00383389" "05165" "00383391" "05165" "00384236" "04214" "00434029" "00296" "00434129" "00296" "00434130" "00296" "00434132" "00296" "00434157" "00296" "00444328" "00296" "00444916" "00296" "00446470" "00296" "00468291" "00296" "00468292" "00296" "00468366" "00296" "00468453" "00296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00296, 00312, 02939, 04214, 04267, 05165 ## Count = 36 "{{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/Cysts}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Eye/Retina}}" "{{Phenotype/Neoplasm}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000012390" "00312" "00013703" "00100" "Familial" "" "no additional phenotype data available; colorectal phenotype attenuated, ? nr polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027293" "00296" "00033895" "00006" "Isolated (sporadic)" "" "microphthalmia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027294" "00296" "00033896" "00006" "Familial, autosomal dominant" "" "congenital; microphthalmia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027338" "00296" "00033940" "00006" "Unknown" "" "microphthalmia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027339" "00000" "00033941" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027340" "00296" "00033942" "00006" "Unknown" "" "microphthalmia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027341" "00296" "00033943" "00006" "Unknown" "" "microphthalmia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027342" "00296" "00033944" "00006" "Unknown" "" "microphthalmia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027343" "00296" "00033945" "00006" "Unknown" "" "microphthalmia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027344" "00000" "00033946" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027345" "00000" "00033947" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027346" "00000" "00033948" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027347" "00000" "00033949" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027402" "00296" "00034004" "00006" "Familial, autosomal dominant" "" "congenital; microcornea" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036888" "00198" "00050276" "00006" "Unknown" "" "severe undiagnosed developmental disorders" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000199400" "00296" "00260868" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "CTRCT-23" "congenital cataract" "" "0000253917" "00296" "00336002" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "childhood cataract" "" "0000259122" "04267" "00363775" "00000" "Unknown" "65y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "primary angle‐closure glaucoma" "" "0000259123" "04267" "00363776" "00000" "Unknown" "70y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "primary angle‐closure glaucoma" "" "0000277173" "05165" "00383388" "00000" "Familial, autosomal dominant" "22y" "Irregular nuclear cataract" "" "" "" "" "" "" "" "" "" "" "" "" "congenital cataract" "" "0000277174" "05165" "00383389" "00000" "Familial, autosomal dominant" "53y" "Irregular nuclear cataract" "" "" "" "" "" "" "" "" "" "" "" "" "congenital cataract" "" "0000277176" "05165" "00383391" "00000" "Familial, autosomal dominant" "23y" "Round-shaped opacification in the middle of the le" "" "" "" "" "" "" "" "" "" "" "" "" "congenital cataract" "" "0000278021" "04214" "00384236" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "family exudative vitreoretinopathy?" "" "0000324408" "00296" "00434029" "00006" "Familial, autosomal dominant" "38y" "anterior polar cataract" "" "" "" "" "" "" "" "" "" "" "" "CTRCT23" "cataract" "" "0000324483" "00296" "00434129" "00006" "Familial, autosomal dominant" "" "see paper; ..., nuclear cataract, white opacities" "" "" "" "" "" "" "" "" "" "" "" "CTRCT1" "cataract" "" "0000324484" "00296" "00434130" "00006" "Familial, autosomal dominant" "" "see paper; ..., nuclear/lamellar cataract, blue punctate opacities" "" "" "" "" "" "" "" "" "" "" "" "CTRCT14" "cataract" "" "0000324486" "00296" "00434132" "00006" "Familial, autosomal dominant" "" "see paper; ..., total cataract" "" "" "" "" "" "" "" "" "" "" "" "CTRCT6" "cataract" "" "0000324515" "00296" "00434157" "00006" "Isolated (sporadic)" "" "nuclear cataract; microphthalmia; no microcornea; no iris malformations" "" "" "" "" "" "" "" "" "" "" "" "" "cataract" "" "0000331282" "00296" "00056432" "00006" "Familial, autosomal dominant" "" "see paper; ..., isolated congenital cataract" "" "" "" "" "" "" "" "" "" "" "" "" "cataract" "" "0000333581" "00296" "00444328" "00006" "Familial, autosomal dominant" "" "total cataract, microphthalmia" "0d" "" "" "" "" "" "" "" "" "" "" "" "cataract" "" "0000334166" "00296" "00444916" "00006" "Familial, autosomal dominant" "" "see paper; ..., bilateral lens opacities with \'frosted glass\' appearance; son 18m-cataracts, 6y-lensectomies; father and 2 uncles with cataracts." "" "" "" "" "" "" "" "" "" "" "" "CTRCT16" "cataract" "" "0000335690" "00296" "00446470" "00006" "Isolated (sporadic)" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "" "" "CTRCT23" "congenital catarct" "" "0000353443" "00296" "00468291" "00006" "Familial, autosomal dominant" "0.3y" "see paper; ..., cataract; nystagmus; 0.4y-surgery" "" "" "" "" "" "" "" "" "" "" "" "CTRCT23" "cataract" "" "0000353444" "00296" "00468292" "00006" "Familial, autosomal dominant" "25.8y" "see paper; ..., total cataract; microphthalmia; nystagmus; no surgery" "" "" "" "" "" "" "" "" "" "" "" "CTRCT23" "cataract" "" "0000353518" "00296" "00468366" "00006" "Familial, autosomal dominant" "16.9y" "see paper; ..., nuclear cataract; postoperative intraocular lens displacement, dislocation; /; nystagmus; 17.0y-surgery" "" "" "" "" "" "" "" "" "" "" "" "CTRCT23" "cataract" "" "0000353605" "00296" "00468453" "00006" "Familial, autosomal dominant" "" "nuclear cataract, sutural cataract; symmetrical opacities" "0y" "" "" "" "" "" "" "" "" "" "" "" "bilateral cataract" "" ## Screenings ## Do not remove or alter this header ## ## Count = 38 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000013619" "00013703" "1" "00100" "00100" "2011-11-30 15:31:38" "00006" "2019-08-02 20:11:40" "SEQ" "DNA" "leukocytes" "screen APC gene (index patient)" "0000033963" "00033895" "1" "00006" "00006" "2007-06-21 20:00:00" "00006" "2012-05-18 14:01:03" "SEQ" "DNA" "" "" "0000033964" "00033896" "1" "00006" "00006" "2007-06-21 20:00:00" "00006" "2012-05-18 14:01:03" "SEQ" "DNA" "" "" "0000034008" "00033940" "1" "00006" "00006" "2010-11-28 16:56:05" "00006" "2012-05-18 14:01:03" "SEQ" "DNA" "" "" "0000034009" "00033941" "1" "00006" "00006" "2010-11-28 16:56:05" "00006" "2012-05-18 14:01:03" "SEQ" "DNA" "" "" "0000034010" "00033942" "1" "00006" "00006" "2010-11-28 16:56:05" "00006" "2012-05-18 14:01:03" "SEQ" "DNA" "" "" "0000034011" "00033943" "1" "00006" "00006" "2010-11-28 16:56:05" "00006" "2012-05-18 14:01:03" "SEQ" "DNA" "" "" "0000034012" "00033944" "1" "00006" "00006" "2010-11-28 16:56:05" "00006" "2012-05-18 14:01:03" "SEQ" "DNA" "" "" "0000034013" "00033945" "1" "00006" "00006" "2010-11-28 16:56:05" "00006" "2012-05-18 14:01:03" "SEQ" "DNA" "" "" "0000034014" "00033946" "1" "00006" "00006" "2010-11-28 16:56:05" "00006" "2012-05-18 14:01:03" "SEQ" "DNA" "" "" "0000034015" "00033947" "1" "00006" "00006" "2010-11-28 16:56:05" "00006" "2012-05-18 14:01:03" "SEQ" "DNA" "" "" "0000034016" "00033948" "1" "00006" "00006" "2010-11-28 16:56:05" "00006" "2012-05-18 14:01:03" "SEQ" "DNA" "" "" "0000034017" "00033949" "1" "00006" "00006" "2010-11-28 16:56:05" "00006" "2012-05-18 14:01:03" "SEQ" "DNA" "" "" "0000034072" "00034004" "1" "00006" "00006" "2011-08-14 11:55:17" "00006" "2012-05-18 14:01:03" "SEQ" "DNA" "" "" "0000050221" "00050276" "1" "00006" "00006" "2015-09-27 13:26:52" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000056391" "00056432" "1" "01497" "01497" "2016-01-04 13:56:35" "" "" "SEQ-NG-I" "DNA" "" "" "0000261972" "00260868" "1" "00006" "00006" "2019-08-09 10:06:50" "" "" "SEQ" "DNA" "" "" "0000294247" "00293079" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294248" "00293080" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000337232" "00336002" "1" "00000" "00006" "2021-03-10 17:05:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000365003" "00363775" "1" "00000" "00006" "2021-04-30 09:22:49" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000365004" "00363776" "1" "00000" "00006" "2021-04-30 09:22:49" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000384613" "00383388" "1" "00000" "03840" "2021-09-29 09:56:40" "" "" "SEQ-NG" "DNA" "blood" "eye disease enrichment panel, see paper" "0000384614" "00383389" "1" "00000" "03840" "2021-09-29 09:56:40" "" "" "SEQ-NG" "DNA" "blood" "eye disease enrichment panel, see paper" "0000384616" "00383391" "1" "00000" "03840" "2021-09-29 09:56:40" "" "" "SEQ-NG" "DNA" "blood" "eye disease enrichment panel, see paper" "0000385461" "00384236" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000435492" "00434029" "1" "00006" "00006" "2023-03-17 19:03:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435596" "00434129" "1" "00006" "00006" "2023-03-20 14:55:46" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435597" "00434130" "1" "00006" "00006" "2023-03-20 14:55:46" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435599" "00434132" "1" "00006" "00006" "2023-03-20 14:55:46" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435625" "00434157" "1" "00006" "00006" "2023-03-21 17:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000445896" "00444328" "1" "00006" "00006" "2023-12-21 22:12:43" "" "" "SEQ;SEQ-NG" "DNA" "" "80 gene panel" "0000446485" "00444916" "1" "00006" "00006" "2023-12-28 19:27:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000448043" "00446470" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000469957" "00468291" "1" "00006" "00006" "2025-11-08 17:41:52" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469958" "00468292" "1" "00006" "00006" "2025-11-08 17:41:52" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000470032" "00468366" "1" "00006" "00006" "2025-11-08 17:41:52" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000470120" "00468453" "1" "00006" "00006" "2025-11-09 20:53:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 25 "{{screeningid}}" "{{geneid}}" "0000013619" "APC" "0000033963" "CRYBA4" "0000033964" "CRYBA4" "0000034008" "CRYBA4" "0000034009" "CRYBA4" "0000034010" "CRYBA4" "0000034011" "CRYBA4" "0000034012" "CRYBA4" "0000034013" "CRYBA4" "0000034014" "CRYBA4" "0000034015" "CRYBA4" "0000034016" "CRYBA4" "0000034017" "CRYBA4" "0000034072" "CRYBA4" "0000050221" "CRYBA4" "0000056391" "CRYBA4" "0000056391" "CRYBB1" "0000261972" "CRYBA4" "0000337232" "CRYBA4" "0000365003" "CRYBA4" "0000365004" "CRYBA4" "0000384613" "CRYBA4" "0000384614" "CRYBA4" "0000384616" "CRYBA4" "0000385461" "CRYBA4" ## 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 = 62 "{{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}}" "0000060869" "1" "90" "22" "27021492" "27021492" "subst" "0" "00006" "CRYBA4_000001" "g.27021492T>C" "" "{PMID:Billingsley 2006:16960806}" "MspI" "242T>C" "not in 368 control chromosomes" "Germline" "" "" "0" "" "" "g.26625528T>C" "" "pathogenic" "" "0000060870" "1" "90" "22" "27021567" "27021567" "subst" "0" "00006" "CRYBA4_000002" "g.27021567T>C" "" "{PMID:Billingsley 2006:16960806}" "NciI" "317T>C" "mapped by linkage (LOD 3.2); not in 478 control chromosomes" "Germline" "" "" "0" "" "" "g.26625603T>C" "" "pathogenic" "" "0000060871" "0" "10" "22" "27019264" "27019264" "subst" "0.0174374" "00006" "CRYBA4_000003" "g.27019264G>A" "1/64" "{PMID:Billingsley 2006:16960806}" "NlaIII" "142G>A" "1/32 patients" "Germline" "" "rs35520672" "0" "" "" "g.26623300G>A" "" "benign" "" "0000060872" "0" "10" "22" "27019264" "27019264" "subst" "0.0174374" "00006" "CRYBA4_000003" "g.27019264G>A" "4/320" "{PMID:Billingsley 2006:16960806}" "NlaIII" "142G>A" "4/160 controls" "Germline" "" "rs35520672" "0" "" "" "g.26623300G>A" "" "benign" "" "0000060873" "0" "10" "22" "27021358" "27021358" "subst" "0" "00006" "CRYBA4_000004" "g.27021358C>T" "2/64" "{PMID:Billingsley 2006:16960806}" "" "IVS3-87C>T" "2/32 patients" "Germline" "" "" "0" "" "" "g.26625394C>T" "" "benign" "" "0000060874" "0" "10" "22" "27021358" "27021358" "subst" "0" "00006" "CRYBA4_000004" "g.27021358C>T" "11/112" "{PMID:Billingsley 2006:16960806}" "" "IVS3-87C>T" "11/56 controls" "Germline" "" "" "0" "" "" "g.26625394C>T" "" "benign" "" "0000060875" "0" "10" "22" "27021409" "27021409" "subst" "0.0602382" "00006" "CRYBA4_000005" "g.27021409C>T" "2/64" "{PMID:Billingsley 2006:16960806}" "FokI" "IVS3-36C>T" "2/32 patients" "Germline" "" "" "0" "" "" "g.26625445C>T" "" "benign" "" "0000060876" "0" "10" "22" "27021409" "27021409" "subst" "0.0602382" "00006" "CRYBA4_000005" "g.27021409C>T" "18/236" "{PMID:Billingsley 2006:16960806}" "FokI" "IVS3-36C>T" "18/118 controls" "Germline" "" "" "0" "" "" "g.26625445C>T" "" "benign" "" "0000060877" "0" "10" "22" "27021589" "27021589" "subst" "0.060583" "00006" "CRYBA4_000006" "g.27021589A>G" "2/64" "{PMID:Billingsley 2006:16960806}" "" "IVS4+3A>G" "2/32 patients" "Germline" "" "" "0" "" "" "g.26625625A>G" "" "benign" "" "0000060878" "0" "10" "22" "27021589" "27021589" "subst" "0.060583" "00006" "CRYBA4_000006" "g.27021589A>G" "20/180" "{PMID:Billingsley 2006:16960806}" "" "IVS4+3A>G" "20/90 controls" "Germline" "" "" "0" "" "" "g.26625625A>G" "" "benign" "" "0000060879" "0" "10" "22" "27026286" "27026286" "subst" "0.0452391" "00006" "CRYBA4_000007" "g.27026286G>A" "2/64" "{PMID:Billingsley 2006:16960806}" "AccI" "IVS5-18G>A" "2/32 patients" "Germline" "" "" "0" "" "" "g.26630322G>A" "" "benign" "" "0000060880" "0" "10" "22" "27026286" "27026286" "subst" "0.0452391" "00006" "CRYBA4_000007" "g.27026286G>A" "9/238" "{PMID:Billingsley 2006:16960806}" "AccI" "IVS5-18G>A" "9/119 controls" "Germline" "" "" "0" "" "" "g.26630322G>A" "" "benign" "" "0000060881" "1" "90" "22" "27021476" "27021476" "subst" "0" "00006" "CRYBA4_000008" "g.27021476G>T" "" "{PMID:Zhou 2010:20577656}" "" "c.225G>T" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.26625512G>T" "" "pathogenic" "" "0000060882" "0" "50" "22" "27019235" "27019235" "subst" "7.72245E-5" "00006" "CRYBA4_000009" "g.27019235G>A" "" "" "" "" "" "Germline" "" "rs12053788" "0" "" "" "g.26623271G>A" "" "VUS" "" "0000060883" "0" "50" "22" "27021537" "27021537" "subst" "8.15421E-6" "00006" "CRYBA4_000010" "g.27021537C>T" "" "" "" "" "" "Germline" "" "rs4277" "0" "" "" "g.26625573C>T" "" "VUS" "" "0000060884" "0" "50" "22" "27024388" "27024388" "subst" "0" "00006" "CRYBA4_000011" "g.27024388C>G" "" "" "" "" "" "Germline" "" "rs28412604" "0" "" "" "g.26628424C>G" "" "VUS" "" "0000079173" "3" "90" "22" "27019197" "27019197" "subst" "0.0033364" "00006" "CRYBA4_000012" "g.27019197G>C" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "association variant/phenotype uncertain" "Germline" "" "" "0" "" "" "g.26623233G>C" "" "pathogenic" "" "0000086630" "11" "70" "22" "26995600" "27074521" "dup" "0" "01497" "CRYBB1_000008" "g.26995600_27074521dup" "" "{PMID:Siggs 2017:28272538}, {DOI:Siggs 2017:10.1038/ejhg.2017.33}" "" "" "79 kb tandem duplication CRYBB1-CRYBA4-MIAT resulting in partial duplication CRYBB1" "Germline" "yes" "" "0" "" "" "g.26599636_26678557dup" "" "likely pathogenic (dominant)" "" "0000249268" "0" "10" "22" "27021425" "27021425" "subst" "0.511947" "02325" "CRYBA4_000014" "g.27021425A>G" "" "" "" "CRYBA4(NM_001886.3):c.159-20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26625461A>G" "" "benign" "" "0000267141" "0" "10" "22" "27021457" "27021457" "subst" "0.89557" "02325" "CRYBA4_000015" "g.27021457T>C" "" "" "" "CRYBA4(NM_001886.3):c.171T>C (p.F57=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26625493T>C" "" "benign" "" "0000274449" "0" "50" "22" "27026324" "27026324" "subst" "8.14637E-6" "01943" "CRYBA4_000016" "g.27026324C>T" "" "" "" "CRYBA4(NM_001886.2):c.464C>T (p.P155L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26630360C>T" "" "VUS" "" "0000571638" "0" "30" "22" "27019197" "27019197" "subst" "0.0033364" "01943" "CRYBA4_000012" "g.27019197G>C" "" "" "" "CRYBA4(NM_001886.2):c.40-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26623233G>C" "" "likely benign" "" "0000571640" "0" "30" "22" "27019218" "27019218" "subst" "6.91535E-5" "01943" "CRYBA4_000017" "g.27019218C>T" "" "" "" "CRYBA4(NM_001886.2):c.60C>T (p.D20=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26623254C>T" "" "likely benign" "" "0000571641" "0" "90" "22" "27019289" "27019289" "subst" "0" "02327" "CRYBA4_000018" "g.27019289T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26623325T>A" "" "pathogenic" "" "0000571642" "0" "50" "22" "27021503" "27021503" "subst" "5.68962E-5" "01943" "CRYBA4_000019" "g.27021503G>A" "" "" "" "CRYBA4(NM_001886.2):c.217G>A (p.E73K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26625539G>A" "" "VUS" "" "0000571643" "0" "30" "22" "27024281" "27024281" "subst" "8.52743E-5" "01943" "CRYBA4_000020" "g.27024281C>T" "" "" "" "CRYBA4(NM_001886.2):c.330C>T (p.F110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26628317C>T" "" "likely benign" "" "0000571644" "0" "50" "22" "27024293" "27024293" "subst" "0" "01943" "CRYBA4_000021" "g.27024293C>A" "" "" "" "CRYBA4(NM_001886.2):c.342C>A (p.N114K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26628329C>A" "" "VUS" "" "0000571645" "0" "50" "22" "27026324" "27026324" "subst" "8.14637E-6" "02327" "CRYBA4_000016" "g.27026324C>T" "" "" "" "CRYBA4(NM_001886.2):c.464C>T (p.P155L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26630360C>T" "" "VUS" "" "0000592101" "3" "90" "22" "27024391" "27024391" "subst" "0" "00006" "CRYBA4_000022" "g.27024391G>T" "" "{PMID:Chen 2017:28418495}" "" "" "" "Germline" "yes" "" "0" "" "" "g.26628427G>T" "" "pathogenic (recessive)" "" "0000650936" "1" "10" "22" "27019197" "27019197" "subst" "0.0033364" "03575" "CRYBA4_000012" "g.27019197G>C" "12/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "12 heterozygous, no homozygous; {DB:CLININrs142090709}" "Germline" "" "rs142090709" "0" "" "" "g.26623233G>C" "" "benign" "" "0000650937" "1" "10" "22" "27019264" "27019264" "subst" "0.0174374" "03575" "CRYBA4_000003" "g.27019264G>A" "12/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "12 heterozygous, no homozygous; {DB:CLININrs35520672}" "Germline" "" "rs35520672" "0" "" "" "g.26623300G>A" "" "benign" "" "0000658911" "0" "90" "22" "27024395" "27024395" "subst" "7.3119E-5" "02327" "CRYBA4_000023" "g.27024395G>A" "" "" "" "CRYBA4(NM_001886.3):c.443+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26628431G>A" "" "pathogenic" "" "0000681821" "0" "30" "22" "27021547" "27021547" "subst" "2.8494E-5" "01943" "CRYBA4_000024" "g.27021547C>T" "" "" "" "CRYBA4(NM_001886.2):c.261C>T (p.P87=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693132" "0" "30" "22" "27026325" "27026325" "subst" "0.00127492" "01943" "CRYBA4_000025" "g.27026325G>A" "" "" "" "CRYBA4(NM_001886.2):c.465G>A (p.P155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000736862" "1" "70" "22" "27019294" "27019314" "del" "0" "00000" "CRYBA4_000026" "g.27019294_27019314del" "1/181 individuals" "{PMID:Sergouniotis 2016:27628848}" "" "" "no genotypes reported" "Germline" "" "" "0" "" "" "g.26623330_26623350del" "" "likely pathogenic" "" "0000765953" "0" "70" "22" "27024334" "27024334" "subst" "0" "00000" "CRYBA4_000027" "g.27024334C>T" "" "{PMID:Huang 2015:26310487}" "" "" "" "Germline" "" "" "0" "" "" "g.26628370C>T" "" "likely pathogenic" "" "0000765954" "0" "70" "22" "27024364" "27024364" "subst" "2.43645E-5" "00000" "CRYBA4_000028" "g.27024364A>G" "" "{PMID:Huang 2015:26310487}" "" "" "" "Germline" "" "" "0" "" "" "g.26628400A>G" "" "likely pathogenic" "" "0000811359" "0" "70" "22" "27021455" "27021455" "subst" "0" "00000" "CRYBA4_000030" "g.27021455T>C" "" "{PMID:Wang 2019:31555371}" "" "c.169T>C, p.F57L" "" "Germline" "?" "" "0" "" "" "g.26625491T>C" "" "likely pathogenic" "" "0000811360" "0" "70" "22" "27021455" "27021455" "subst" "0" "00000" "CRYBA4_000030" "g.27021455T>C" "" "{PMID:Wang 2019:31555371}" "" "c.169T>C, p.F57L" "" "Germline" "?" "" "0" "" "" "g.26625491T>C" "" "likely pathogenic" "" "0000811362" "0" "30" "22" "27018586" "27018586" "subst" "8.53298E-5" "00000" "CRYBA4_000029" "g.27018586C>T" "" "{PMID:Wang 2019:31555371}" "" "c.26C>T, p.A9V" "" "Germline" "?" "" "0" "" "" "g.26622622C>T" "" "likely benign" "" "0000812519" "0" "70" "22" "27021497" "27021497" "subst" "4.06352E-5" "00000" "CRYBA4_000031" "g.27021497C>T" "" "{PMID:Wang 2019:31106028}" "" "c.211C>T, p.(Arg71*)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.26625533C>T" "" "likely pathogenic" "" "0000866759" "0" "30" "22" "27024296" "27024296" "subst" "0.000150248" "01943" "CRYBA4_000032" "g.27024296C>T" "" "" "" "CRYBA4(NM_001886.2):c.345C>T (p.F115=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895628" "0" "70" "22" "27021525" "27021525" "subst" "0" "02329" "CRYBA4_000033" "g.27021525G>C" "" "" "" "CRYBA4(NM_001886.3):c.239G>C (p.W80S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000895629" "0" "50" "22" "27024359" "27024359" "subst" "0" "02329" "CRYBA4_000034" "g.27024359C>T" "" "" "" "CRYBA4(NM_001886.3):c.408C>T (p.G136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000921505" "21" "90" "22" "27018586" "27018586" "subst" "8.53298E-5" "00006" "CRYBA4_000029" "g.27018586C>T" "" "{PMID:Zhai 2017:28450710}" "" "" "" "Germline" "" "" "0" "" "" "g.26622622C>T" "" "pathogenic (dominant)" "" "0000921643" "3" "30" "22" "27021457" "27021457" "subst" "0.89557" "00006" "CRYBA4_000015" "g.27021457T>C" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs5761637" "0" "" "" "g.26625493T>C" "" "likely benign" "" "0000921670" "3" "30" "22" "27021457" "27021457" "subst" "0.89557" "00006" "CRYBA4_000015" "g.27021457T>C" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs5761637" "0" "" "" "g.26625493T>C" "" "likely benign" "" "0000921727" "3" "30" "22" "27021457" "27021457" "subst" "0.89557" "00006" "CRYBA4_000015" "g.27021457T>C" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs5761637" "0" "" "" "g.26625493T>C" "" "likely benign" "" "0000921786" "0" "90" "22" "27021492" "27021492" "subst" "0" "00006" "CRYBA4_000001" "g.27021492T>C" "" "{PMID:Fernandez-Alcalde 2021:33923544}" "" "" "" "De novo" "" "" "0" "" "" "g.26625528T>C" "" "pathogenic (dominant)" "" "0000927123" "0" "70" "22" "27021492" "27021492" "subst" "0" "02327" "CRYBA4_000001" "g.27021492T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000931256" "0" "10" "22" "27021457" "27021457" "subst" "0.89557" "02327" "CRYBA4_000015" "g.27021457T>C" "" "" "" "CRYBA4(NM_001886.3):c.171T>C (p.F57=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000954093" "21" "90" "22" "27021563" "27021563" "subst" "0" "00006" "CRYBA4_000035" "g.27021563T>C" "" "{PMID:Li 2018:29914532}" "" "" "variant de novo in mother" "De novo" "" "" "0" "" "" "g.26625599T>C" "" "pathogenic (dominant)" "" "0000954839" "20" "10" "22" "27019197" "27019197" "subst" "0.0033364" "00006" "CRYBA4_000012" "g.27019197G>C" "" "{PMID:Ma 2016:26694549}" "" "" "" "Germline" "" "rs142090709" "0" "" "" "g.26623233G>C" "" "benign" "" "0000957423" "0" "70" "22" "27021462" "27021462" "subst" "0" "00006" "CRYBA4_000036" "g.27021462A>C" "" "{PMID:Liu 2023:37337769}" "" "" "" "De novo" "" "" "0" "" "" "g.26625498A>C" "" "likely pathogenic (dominant)" "" "0000984162" "0" "50" "22" "27019199" "27019199" "subst" "0" "01804" "CRYBA4_000037" "g.27019199T>C" "" "" "" "CRYBA4(NM_001886.3):c.41T>C (p.(Met14Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005973" "0" "30" "22" "27019234" "27019234" "subst" "1.21944E-5" "01804" "CRYBA4_000038" "g.27019234C>T" "" "" "" "CRYBA4(NM_001886.2):c.76C>T (p.(Arg26Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043785" "0" "30" "22" "27019292" "27019292" "subst" "2.03094E-5" "01804" "CRYBA4_000039" "g.27019292G>A" "" "" "" "CRYBA4(NM_001886.3):c.134G>A (p.(Arg45Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043786" "0" "50" "22" "27024395" "27024395" "subst" "7.3119E-5" "01804" "CRYBA4_000023" "g.27024395G>A" "" "" "" "CRYBA4(NM_001886.3):c.443+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001058038" "0" "70" "22" "27021501" "27021501" "subst" "0" "00006" "CRYBA4_000042" "g.27021501G>A" "" "{PMID:Guo 2025:40449652}" "" "" "" "Germline" "" "" "0" "" "" "g.26625537G>A" "" "likely pathogenic (dominant)" "" "0001058039" "0" "70" "22" "27021500" "27021500" "subst" "0" "00006" "CRYBA4_000041" "g.27021500G>A" "" "{PMID:Guo 2025:40449652}" "" "" "" "Germline" "" "" "0" "" "" "g.26625536G>A" "" "likely pathogenic (dominant)" "" "0001058113" "0" "70" "22" "27021524" "27021524" "subst" "0" "00006" "CRYBA4_000043" "g.27021524T>A" "" "{PMID:Guo 2025:40449652}" "" "" "" "Germline" "" "" "0" "" "" "g.26625560T>A" "" "likely pathogenic (dominant)" "" "0001058207" "0" "50" "22" "27019304" "27019304" "subst" "0" "00006" "CRYBA4_000040" "g.27019304T>A" "" "{PMID:Wang 2024:38184101}" "" "" "ACMG PM2_sup, PP1_suping, PP3, PP4" "Germline" "" "" "0" "" "" "g.26623340T>A" "" "VUS" "ACMG" ## 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 CRYBA4 ## Count = 62 "{{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}}" "0000060869" "00005712" "90" "206" "0" "206" "0" "c.206T>C" "r.(?)" "p.(Leu69Pro)" "4" "0000060870" "00005712" "90" "281" "0" "281" "0" "c.281T>C" "r.(?)" "p.(Phe94Ser)" "4" "0000060871" "00005712" "10" "106" "0" "106" "0" "c.106G>A" "r.(?)" "p.(Val36Met)" "3" "0000060872" "00005712" "10" "106" "0" "106" "0" "c.106G>A" "r.(?)" "p.(Val36Met)" "3" "0000060873" "00005712" "10" "159" "-87" "159" "-87" "c.159-87C>T" "r.(=)" "p.(=)" "3i" "0000060874" "00005712" "10" "159" "-87" "159" "-87" "c.159-87C>T" "r.(=)" "p.(=)" "3i" "0000060875" "00005712" "10" "159" "-36" "159" "-36" "c.159-36C>T" "r.(=)" "p.(=)" "3i" "0000060876" "00005712" "10" "159" "-36" "159" "-36" "c.159-36C>T" "r.(=)" "p.(=)" "3i" "0000060877" "00005712" "10" "300" "3" "300" "3" "c.300+3A>G" "r.(=)" "p.(=)" "4i" "0000060878" "00005712" "10" "300" "3" "300" "3" "c.300+3A>G" "r.(=)" "p.(=)" "4i" "0000060879" "00005712" "10" "444" "-18" "444" "-18" "c.444-18G>A" "r.(=)" "p.(=)" "5i" "0000060880" "00005712" "10" "444" "-18" "444" "-18" "c.444-18G>A" "r.(=)" "p.(=)" "5i" "0000060881" "00005712" "90" "190" "0" "190" "0" "c.190G>T" "r.(?)" "p.(Gly64Trp)" "4" "0000060882" "00005712" "50" "77" "0" "77" "0" "c.77G>A" "r.(?)" "p.(Arg26Gln)" "3" "0000060883" "00005712" "50" "251" "0" "251" "0" "c.251C>T" "r.(?)" "p.(Thr84Met)" "4" "0000060884" "00005712" "50" "437" "0" "437" "0" "c.437C>G" "r.(?)" "p.(Ser146Cys)" "5" "0000079173" "00005712" "00" "40" "-1" "40" "-1" "c.40-1G>C" "r.spl?" "p.?" "" "0000086630" "00005712" "70" "0" "0" "0" "0" "c.-35_*185{2}" "r.?" "p.?" "_1_6_" "0000249268" "00005712" "10" "159" "-20" "159" "-20" "c.159-20A>G" "r.(=)" "p.(=)" "" "0000267141" "00005712" "10" "171" "0" "171" "0" "c.171T>C" "r.(?)" "p.(Phe57=)" "" "0000274449" "00005712" "50" "464" "0" "464" "0" "c.464C>T" "r.(?)" "p.(Pro155Leu)" "" "0000571638" "00005712" "30" "40" "-1" "40" "-1" "c.40-1G>C" "r.spl?" "p.?" "" "0000571640" "00005712" "30" "60" "0" "60" "0" "c.60C>T" "r.(?)" "p.(Asp20=)" "" "0000571641" "00005712" "90" "131" "0" "131" "0" "c.131T>A" "r.(?)" "p.(Val44Glu)" "" "0000571642" "00005712" "50" "217" "0" "217" "0" "c.217G>A" "r.(?)" "p.(Glu73Lys)" "" "0000571643" "00005712" "30" "330" "0" "330" "0" "c.330C>T" "r.(?)" "p.(Phe110=)" "" "0000571644" "00005712" "50" "342" "0" "342" "0" "c.342C>A" "r.(?)" "p.(Asn114Lys)" "" "0000571645" "00005712" "50" "464" "0" "464" "0" "c.464C>T" "r.(?)" "p.(Pro155Leu)" "" "0000592101" "00005712" "90" "440" "0" "440" "0" "c.440G>T" "r.(?)" "p.(Gly147Val)" "" "0000650936" "00005712" "10" "40" "-1" "40" "-1" "c.40-1G>C" "r.spl?" "p.?" "" "0000650937" "00005712" "10" "106" "0" "106" "0" "c.106G>A" "r.(?)" "p.(Val36Met)" "" "0000658911" "00005712" "90" "443" "1" "443" "1" "c.443+1G>A" "r.spl?" "p.?" "" "0000681821" "00005712" "30" "261" "0" "261" "0" "c.261C>T" "r.(?)" "p.(Pro87=)" "" "0000693132" "00005712" "30" "465" "0" "465" "0" "c.465G>A" "r.(?)" "p.(Pro155=)" "" "0000736862" "00005712" "70" "136" "0" "156" "0" "c.136_156del" "r.(?)" "p.(Ser46_Gly52del)" "" "0000765953" "00005712" "70" "383" "0" "383" "0" "c.383C>T" "r.(?)" "p.(Ser128Phe)" "" "0000765954" "00005712" "70" "413" "0" "413" "0" "c.413A>G" "r.(?)" "p.(Glu138Gly)" "" "0000811359" "00005712" "70" "169" "0" "169" "0" "c.169T>C" "r.(?)" "p.(Phe57Leu)" "" "0000811360" "00005712" "70" "169" "0" "169" "0" "c.169T>C" "r.(?)" "p.(Phe57Leu)" "" "0000811362" "00005712" "30" "26" "0" "26" "0" "c.26C>T" "r.(?)" "p.(Ala9Val)" "" "0000812519" "00005712" "70" "211" "0" "211" "0" "c.211C>T" "r.(?)" "p.(Arg71*)" "" "0000866759" "00005712" "30" "345" "0" "345" "0" "c.345C>T" "r.(?)" "p.(Phe115=)" "" "0000895628" "00005712" "70" "239" "0" "239" "0" "c.239G>C" "r.(?)" "p.(Trp80Ser)" "" "0000895629" "00005712" "50" "408" "0" "408" "0" "c.408C>T" "r.(?)" "p.(Gly136=)" "" "0000921505" "00005712" "90" "26" "0" "26" "0" "c.26C>T" "r.(?)" "p.(Ala9Val)" "" "0000921643" "00005712" "30" "171" "0" "171" "0" "c.171T>C" "r.(?)" "p.(Phe57=)" "" "0000921670" "00005712" "30" "171" "0" "171" "0" "c.171T>C" "r.(?)" "p.(Phe57=)" "" "0000921727" "00005712" "30" "171" "0" "171" "0" "c.171T>C" "r.(?)" "p.(Phe57=)" "" "0000921786" "00005712" "90" "206" "0" "206" "0" "c.206T>C" "r.(?)" "p.(Leu69Pro)" "" "0000927123" "00005712" "70" "206" "0" "206" "0" "c.206T>C" "r.(?)" "p.(Leu69Pro)" "" "0000931256" "00005712" "10" "171" "0" "171" "0" "c.171T>C" "r.(?)" "p.(Phe57=)" "" "0000954093" "00005712" "90" "277" "0" "277" "0" "c.277T>C" "r.(?)" "p.(Ser93Pro)" "" "0000954839" "00005712" "10" "40" "-1" "40" "-1" "c.40-1G>C" "r.spl" "p.?" "" "0000957423" "00005712" "70" "176" "0" "176" "0" "c.176A>C" "r.(?)" "p.(His59Pro)" "4" "0000984162" "00005712" "50" "41" "0" "41" "0" "c.41T>C" "r.(?)" "p.(Met14Thr)" "" "0001005973" "00005712" "30" "76" "0" "76" "0" "c.76C>T" "r.(?)" "p.(Arg26Trp)" "" "0001043785" "00005712" "30" "134" "0" "134" "0" "c.134G>A" "r.(?)" "p.(Arg45Gln)" "" "0001043786" "00005712" "50" "443" "1" "443" "1" "c.443+1G>A" "r.spl?" "p.?" "" "0001058038" "00005712" "70" "215" "0" "215" "0" "c.215G>A" "r.(?)" "p.(Gly72Asp)" "" "0001058039" "00005712" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Ser)" "" "0001058113" "00005712" "70" "238" "0" "238" "0" "c.238T>A" "r.(?)" "p.(Trp80Arg)" "" "0001058207" "00005712" "50" "146" "0" "146" "0" "c.146T>A" "r.(?)" "p.(Val49Glu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 40 "{{screeningid}}" "{{variantid}}" "0000013619" "0000060882" "0000013619" "0000060883" "0000013619" "0000060884" "0000033963" "0000060869" "0000033964" "0000060870" "0000034008" "0000060871" "0000034009" "0000060872" "0000034010" "0000060873" "0000034011" "0000060875" "0000034012" "0000060877" "0000034013" "0000060879" "0000034014" "0000060874" "0000034015" "0000060876" "0000034016" "0000060878" "0000034017" "0000060880" "0000034072" "0000060881" "0000050221" "0000079173" "0000056391" "0000086630" "0000261972" "0000592101" "0000294247" "0000650936" "0000294248" "0000650937" "0000337232" "0000736862" "0000365003" "0000765953" "0000365004" "0000765954" "0000384613" "0000811359" "0000384614" "0000811360" "0000384616" "0000811362" "0000385461" "0000812519" "0000435492" "0000921505" "0000435596" "0000921643" "0000435597" "0000921670" "0000435599" "0000921727" "0000435625" "0000921786" "0000445896" "0000954093" "0000446485" "0000954839" "0000448043" "0000957423" "0000469957" "0001058038" "0000469958" "0001058039" "0000470032" "0001058113" "0000470120" "0001058207"