### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CRYGC) # 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}}" "CRYGC" "crystallin, gamma C" "2" "q33-q35" "unknown" "NG_008038.1" "UD_132118300263" "" "http://www.LOVD.nl/CRYGC" "" "1" "2410" "1420" "123680" "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/CRYGC_NM_020989.3_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2007-06-21 00:00:00" "00006" "2023-03-17 16:14:05" "00006" "2025-11-08 17:42:19" ## 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}}" "00005720" "CRYGC" "crystallin, gamma C" "001" "NM_020989.3" "" "NP_066269.1" "" "" "" "-38" "591" "525" "208994554" "208992861" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "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" "02494" "CTRCT2;CCL" "cataract, type 2 (Coppock-like)" "AD" "604307" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-11-08 15:23:02" "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}}" "CRYGC" "00296" "CRYGC" "02494" ## Individuals ## Do not remove or alter this header ## ## Count = 89 "{{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}}" "00013661" "" "" "" "1" "" "00100" "" "" "M" "" "Germany" "" "" "yes (pedigree)" "" "" "" "00013662" "" "" "" "1" "" "00100" "" "" "M" "" "Germany" "" "" "yes (pedigree)" "" "" "" "00033858" "" "" "" "18" "" "00006" "{PMID:Heon 1998:9718335}" "4-generation family, 18 affecteds" "" "" "Switzerland;Macedonia" "" "0" "" "" "" "" "00033859" "" "" "" "30" "" "00006" "" "7-generation family, 30 affecteds" "" "" "United States" "" "0" "" "" "" "" "00033860" "" "" "" "3" "" "00006" "" "4-generation family, mother and 2 children" "F" "" "India" "" "0" "" "" "" "" "00033861" "" "" "" "3" "" "00006" "" "" "" "" "India" "" "0" "" "" "" "" "00033922" "" "" "" "3" "" "00006" "" "family, 3 affecteds" "" "" "Mexico" "" "0" "" "" "" "" "00033969" "" "" "" "4" "" "00006" "{PMID:Heon 1998:9718335}" "5-generation family, 4 affecteds" "" "" "Switzerland" "" "0" "" "" "" "" "00033970" "" "" "" "3" "" "00006" "{PMID:Heon 1998:9718335}" "4-generation family, 3 affecteds" "" "" "Switzerland" "" "0" "" "" "" "" "00033971" "" "" "" "1" "" "00006" "" "" "" "" "India" "" "0" "" "" "" "" "00033972" "" "" "" "9" "" "00006" "" "4-generation family, 9 affecteds" "" "" "Mexico" "" "0" "" "" "" "" "00033973" "" "" "" "7" "" "00006" "" "3-generation family, 7 affecteds" "" "" "China" "" "0" "" "" "" "" "00033974" "" "" "" "7" "" "00006" "" "4-generation family, 7 affecteds" "" "" "China" "" "0" "" "" "" "" "00033989" "" "" "" "5" "" "00006" "" "" "" "" "Brazil" "" "0" "" "" "" "" "00033994" "" "" "" "3" "" "00006" "" "affected father, son and daugther" "" "" "India" "" "0" "" "" "" "" "00034019" "" "" "" "3" "" "00226" "{PMID:Li 2012:22052681}" "3-generation family, 3 affected (grandfather, mother, daughter)" "F" "" "China" "" "0" "" "" "China" "FamPatIII1" "00034022" "" "" "" "3" "" "00245" "{PMID:Prokudin 2014:24281366}, {PMID:Ma 2016:26694549}" "2-generation family, 3 affected (mother/twin sons)" "F" "" "Australia" "" "0" "" "" "" "Fam4PatI2;Fam8PatI2" "00065031" "" "" "" "1" "" "00006" "{PMID:Gillespie 2014:25148791}, {DOI:Gillespie 2014:10.1016/j.ophtha.2014.06.006}" "3-generation family, 1 affected, no family hostory" "F" "yes" "" "" "0" "" "" "" "" "00065040" "" "" "" "4" "" "00006" "{PMID:Gillespie 2014:25148791}, {DOI:Gillespie 2014:10.1016/j.ophtha.2014.06.006}" "has affected sister, mother, maternal grandfather" "M" "no" "" "" "0" "" "" "" "" "00073116" "" "" "" "3" "" "01604" "{PMID:Kondo 2013:23441109}" "2-generation family, 3 affecteds (F, 2M)" "F" "" "Korea" "" "0" "" "" "Korean" "23441109-FamBPatMC13" "00073118" "" "" "00073116" "1" "" "01604" "{PMID:Kondo 2013:23441109}" "PatMC13" "M" "" "Korea" "" "0" "" "" "Korean" "23441109-FamBPatMC14" "00073184" "" "" "" "6" "" "01604" "{PMID:Guo 2012:22876111}" "4-generation family, 6-affecteds (4F,2M), PatII7" "M" "" "China" ">08y" "0" "" "" "Chinese" "22876111-FamPatII7" "00073186" "" "" "00073184" "1" "" "01604" "{PMID:Guo 2012:22876111}" "PatI2" "M" "" "China" ">68y" "0" "" "" "Chinese" "22876111FamPatI2" "00073189" "" "" "00073184" "1" "" "01604" "{PMID:Guo 2012:22876111}" "PatIII6" "F" "" "China" "" "0" "" "" "Chinese" "22876111FamPatIII6" "00073190" "" "" "00073184" "1" "" "01604" "{PMID:Guo 2012:22876111}" "PatIV1" "F" "" "China" ">01y" "0" "" "" "Chinese" "22876111-FamPatIV1" "00073191" "" "" "00073184" "1" "" "01604" "{PMID:Guo 2012:22876111}" "PatII2" "F" "" "China" ">13y" "0" "" "" "Chinese" "22876111-FamPatII2" "00073192" "" "" "00073184" "1" "" "01604" "{PMID:Guo 2012:22876111}" "PatIII3" "F" "" "China" ">06y" "0" "" "" "Chinese" "22876111-FamPatIII3" "00102738" "" "" "" "1" "" "01954" "" "" "M" "no" "China" "" "0" "" "" "Chinese" "" "00292550" "" "" "" "62" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00301380" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00336003" "" "" "" "1" "" "00000" "{PMID:Sergouniotis 2016:27628848}" "analysis 181 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00363777" "" "" "" "1" "" "00000" "{PMID:Huang 2015:26310487}" "family" "F" "" "China" "" "0" "" "" "" "G217" "00434026" "" "" "" "1" "" "00006" "{PMID:Jiao 2022:36670602}" "4-generation family, 5 affected (F, 4M)" "M" "" "Ukraine" "" "0" "" "" "" "Fam97006Pat7" "00434078" "" "" "" "1" "" "00006" "{PMID:Li 2016:27307692}" "" "" "" "China" "" "0" "" "" "" "Pat37" "00434082" "" "" "" "1" "" "00006" "{PMID:Li 2016:27307692}" "" "" "" "China" "" "0" "" "" "" "Pat57" "00434162" "" "" "" "1" "" "00006" "{PMID:Fernandez-Alcalde 2021:33923544}" "" "" "" "Spain" "" "0" "" "" "" "Fam07" "00434163" "" "" "" "1" "" "00006" "{PMID:Fernandez-Alcalde 2021:33923544}" "" "" "" "Spain" "" "0" "" "" "" "Fam08" "00434201" "" "" "" "1" "" "00006" "{PMID:Karahan 2021:33864186}" "" "" "" "Turkey" "" "0" "" "" "" "Pat2" "00434301" "" "" "" "5" "" "00006" "{PMID:Zhuang 2019:31523120}" "3-generation family, 5 affected (2F, 3M)" "F;M" "" "China" "" "0" "" "" "" "CAT-33" "00444097" "" "" "" "1" "" "00006" "{PMID:Delas 2023:38068917}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Switzerland" "" "0" "" "" "" "patient" "00444102" "" "" "" "3" "" "00006" "{PMID:Berry 2020:33243271}" "3-generation family, 3 (2F, M) affected" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamDPatII2" "00444107" "" "" "" "1" "" "00006" "{PMID:Berry 2020:33243271}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamI" "00444111" "" "" "" "3" "" "00006" "{PMID:Astiazaran 2018:30450742}" "2-generation family, 4 affected (F, 3M)" "F" "" "Mexico" "" "0" "" "" "" "Fam4PatII2" "00444112" "" "" "00444111" "1" "" "00006" "{PMID:Astiazaran 2018:30450742}" "brother" "M" "" "Mexico" "" "0" "" "" "" "Fam4PatII3" "00444124" "" "" "" "6" "" "00006" "{PMID:Astiazaran 2018:30450742}" "2-generation family, 6 affected (4F, 2M)" "F" "" "Mexico" "" "0" "" "" "" "Fam10PatI2" "00444125" "" "" "00444124" "1" "" "00006" "{PMID:Astiazaran 2018:30450742}" "daughter" "F" "" "Mexico" "" "0" "" "" "" "Fam10PatII1" "00444126" "" "" "00444124" "1" "" "00006" "{PMID:Astiazaran 2018:30450742}" "daughter" "F" "" "Mexico" "" "0" "" "" "" "Fam10PatII3" "00444127" "" "" "00444124" "1" "" "00006" "{PMID:Astiazaran 2018:30450742}" "daughter" "F" "" "Mexico" "" "0" "" "" "" "Fam10PatII4" "00444128" "" "" "00444124" "1" "" "00006" "{PMID:Astiazaran 2018:30450742}" "son" "M" "" "Mexico" "" "0" "" "" "" "Fam10PatII6" "00444131" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:31302914}" "" "" "" "China" "" "0" "" "" "" "family" "00444132" "" "" "" "4" "" "00006" "{PMID:Zhong 2017:28298635}" "3-generation family, 4 affected (2F, 2M)" "" "" "China" "" "0" "" "" "" "Fam10074" "00444133" "" "" "" "2" "" "00006" "{PMID:Zhong 2017:28298635}" "2-generation family, 2 affected (2M)" "M" "" "China" "" "0" "" "" "" "Fam10114" "00444134" "" "" "" "3" "" "00006" "{PMID:Zhong 2017:28298635}" "3-generation family, 3 affected (F, 2M)" "" "" "China" "" "0" "" "" "" "Fam10047" "00444135" "" "" "" "4" "" "00006" "{PMID:Zhong 2017:28298635}" "3-generation family, 4 affected (2F, 2M)" "" "" "China" "" "0" "" "" "" "Fam10103" "00444136" "" "" "" "3" "" "00006" "{PMID:Zhong 2017:28298635}" "3-generation family, 3 affected (F, 2M)" "" "" "China" "" "0" "" "" "" "Fam10185" "00444137" "" "" "" "3" "" "00006" "{PMID:Zhong 2017:28298635}" "3-generation family, 3 affected (F, 2M)" "" "" "China" "" "0" "" "" "" "Fam10138" "00444138" "" "" "" "3" "" "00006" "{PMID:Zhong 2017:28298635}" "2-generation family, 3 affected (F, 2M)" "" "" "China" "" "0" "" "" "" "Fam10082" "00444139" "" "" "" "2" "" "00006" "{PMID:Zhong 2017:28298635}" "2-generation family, affected mother/son" "" "" "China" "" "0" "" "" "" "Fam10104" "00444142" "" "" "" "2" "" "00006" "{PMID:Sun 2017:29386872}" "2-generation family, affected father/son" "M" "" "China" "" "0" "" "" "" "FamC" "00444143" "" "" "" "3" "" "00006" "{PMID:Sun 2017:29386872}" "2-generation family, affectedfather/daughter/son" "F;M" "" "China" "" "0" "" "" "" "FamD" "00444145" "" "" "" "1" "" "00006" "{PMID:Sun 2017:29386872}" "" "" "" "China" "" "0" "" "" "" "Pat2" "00444255" "" "" "" "1" "" "00006" "{PMID:Moon 2021:35052368}" "" "" "" "Korea" "" "0" "" "" "" "Pat14" "00444330" "" "" "" "2" "" "00006" "{PMID:Li 2018:29914532}" "3-generation family, affected mother/son" "M" "" "China" "" "0" "" "" "" "Fam4PatIII1" "00444861" "" "" "" "2" "" "00006" "{PMID:Fan 2020:32883240}" "2-generation family, affected mother/sib" "" "" "China" "" "0" "" "" "" "Fam1" "00444867" "" "" "" "3" "" "00006" "{PMID:Fan 2020:32883240}" "2-generation family, affected mother/elder brother" "" "" "China" "" "0" "" "" "" "Fam7" "00444905" "" "" "" "5" "" "00006" "{PMID:Ma 2016:26694549}" "3-generation family, 5 affeted (3F, 2M)" "F" "" "Australia" "" "0" "" "" "" "Fam22PatII3" "00444930" "" "" "" "28" "" "00006" "{PMID:Kandaswamy 2020:32811259}" "6-generation family, affected 28 (15F, 13M)" "M" "no" "India" "" "0" "" "" "" "FamDKEC1PatV29" "00444955" "" "" "" "7" "" "00006" "{PMID:Patel 2017:27878435}" "family" "" "" "" "" "0" "" "" "" "11DG0994" "00444995" "" "" "" "1" "" "00006" "{PMID:Reis 2013:23508780}" "family, 4 affected" "" "" "United States" "" "0" "" "" "white" "Pat9" "00445004" "" "" "" "1" "" "00006" "{PMID:Reis 2013:23508780}" "family, 2 affected" "" "" "United States" "" "0" "" "" "white" "Pat18" "00445027" "" "" "" "14" "" "00006" "{PMID:Taylan Sekeroglu 2020:33510601}" "3-generation family, 14 affected (8F, 6M)" "F" "" "Turkey" "" "0" "" "" "" "Fam2PatIII3" "00445058" "" "" "" "1" "" "00006" "{PMID:Kessel 2021:34169787}" "patient" "" "" "Denmark" "" "0" "" "" "" "CCMM0102" "00445083" "" "" "" "1" "" "00006" "{PMID:Reichsteiner 2021:34014271}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Switzerland" "" "0" "" "" "" "Fam5PatII1" "00445128" "" "" "" "3" "" "00006" "{PMID:Zhou 2021:36246175}" "3-generation family, affected mother/son/daughter" "F;M" "" "China" "" "0" "" "" "" "family" "00445129" "" "" "" "1" "" "00006" "{PMID:Peng 2022:35719371}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "China" "" "0" "" "" "" "patient" "00446437" "" "" "" "1" "" "00006" "{PMID:Liu 2023:37337769}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "China" "" "0" "" "" "" "Fam20Pat55" "00446473" "" "" "" "3" "" "00006" "{PMID:Liu 2023:37337769}" "2-generation family, affected mother/2 sons" "M" "" "China" "" "0" "" "" "" "Fam72Pat198" "00446474" "" "" "00446473" "1" "" "00006" "{PMID:Liu 2023:37337769}" "mother" "F" "" "China" "" "0" "" "" "" "Fam72Pat199" "00446475" "" "" "00446473" "1" "" "00006" "{PMID:Liu 2023:37337769}" "son" "M" "" "China" "" "0" "" "" "" "Fam72Pat200" "00446546" "" "" "" "2" "" "00006" "{PMID:Liu 2023:37337769}" "2-generation family, affected mother/son" "M" "" "China" "" "0" "" "" "" "Fam161Pat429" "00446547" "" "" "00446546" "1" "" "00006" "{PMID:Liu 2023:37337769}" "mother" "F" "" "China" "" "0" "" "" "" "Fam161Pat430" "00468282" "" "" "" "6" "" "00006" "{PMID:Ma 2025:40776922}" "3-generation family, 6 affected (6F)" "F" "no" "China" "" "0" "" "" "Han" "family" "00468299" "" "" "" "1" "" "00006" "{PMID:Guo 2025:40449652}" "patient, no family history" "F" "" "China" "" "0" "" "" "" "Fam14Pat18901" "00468303" "" "" "" "1" "" "00006" "{PMID:Guo 2025:40449652}" "patient, no family history" "M" "" "China" "" "0" "" "" "" "Fam17Pat21278" "00468363" "" "" "" "3" "" "00006" "{PMID:Guo 2025:40449652}" "family, several affected" "F" "" "China" "" "0" "" "" "" "Fam60Pat16018" "00468364" "" "" "00468363" "1" "" "00006" "{PMID:Guo 2025:40449652}" "relative" "M" "" "China" "" "0" "" "" "" "Fam60Pat16016" "00468385" "" "" "" "2" "" "00006" "{PMID:Guo 2025:40449652}" "family, several affected" "M" "" "China" "" "0" "" "" "" "Fam73Pat18694" "00468386" "" "" "00468385" "1" "" "00006" "{PMID:Guo 2025:40449652}" "relative" "F" "" "China" "" "0" "" "" "" "Fam73Pat19533" "00468424" "" "" "" "2" "" "00006" "{PMID:Guo 2025:40449652}" "family, several affected" "M" "" "China" "" "0" "" "" "" "Fam90Pat11751" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 89 "{{individualid}}" "{{diseaseid}}" "00013661" "00312" "00013662" "00312" "00033858" "02494" "00033859" "00296" "00033860" "00296" "00033861" "00296" "00033922" "00296" "00033969" "02494" "00033970" "02494" "00033971" "00296" "00033972" "00296" "00033973" "00296" "00033974" "00296" "00033989" "00296" "00033994" "00296" "00034019" "00296" "00034022" "00296" "00065031" "05165" "00065040" "05165" "00073116" "05165" "00073118" "05165" "00073184" "05165" "00073186" "05165" "00073189" "05165" "00073190" "05165" "00073191" "05165" "00073192" "05165" "00102738" "00296" "00292550" "00198" "00301380" "00198" "00336003" "00296" "00363777" "04267" "00434026" "00296" "00434078" "00296" "00434082" "00296" "00434162" "00296" "00434163" "00296" "00434201" "00296" "00434301" "00296" "00444097" "00296" "00444102" "00296" "00444107" "00296" "00444111" "00296" "00444112" "00296" "00444124" "00296" "00444125" "00296" "00444126" "00296" "00444127" "00296" "00444128" "00296" "00444131" "00296" "00444132" "00296" "00444133" "00296" "00444134" "00296" "00444135" "00296" "00444136" "00296" "00444137" "00296" "00444138" "00296" "00444139" "00296" "00444142" "00296" "00444143" "00296" "00444145" "00296" "00444255" "04214" "00444330" "00296" "00444861" "00296" "00444867" "00296" "00444905" "00296" "00444930" "00296" "00444955" "00296" "00444995" "00296" "00445004" "00296" "00445027" "00296" "00445058" "00296" "00445083" "00296" "00445128" "00296" "00445129" "00296" "00446437" "00296" "00446473" "00296" "00446474" "00296" "00446475" "00296" "00446546" "00296" "00446547" "00296" "00468282" "00296" "00468299" "00296" "00468303" "00296" "00468363" "00296" "00468364" "00296" "00468385" "00296" "00468386" "00296" "00468424" "00296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00296, 00312, 02494, 04214, 04267, 05165 ## Count = 88 "{{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}}" "0000012348" "00312" "00013661" "00100" "Familial" "42y" "additional phenotype data available; colorectal phenotype attenuated, 108 polyps proximal accentuated; colectomy 42y" "" "" "" "" "" "" "" "" "" "" "" "" "colorectal symptoms" "" "0000012349" "00312" "00013662" "00100" "Familial" "" "no additional phenotype data available" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027256" "02494" "00033858" "00006" "Familial, autosomal dominant" "" "cataract, Coppock-like; aculeiform cataract" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027257" "00296" "00033859" "00006" "Familial, autosomal dominant" "" "with variable zonular pulverulent; severity varied fromsubtle unilateral zonular pulverulent cataract not impairing visual function to dense bilateral nuclear cataracts resulting in blindness" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027258" "00296" "00033860" "00006" "Familial, autosomal dominant" "" "congenital lamellar cataract" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027259" "00296" "00033861" "00006" "Familial, autosomal dominant" "" "congenital" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027320" "00296" "00033922" "00006" "Familial, autosomal dominant" "" "congenital" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027367" "02494" "00033969" "00006" "Familial, autosomal dominant" "" "cataract, Coppock-like; aculeiform cataract" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027368" "02494" "00033970" "00006" "Familial, autosomal dominant" "" "cataract, Coppock-like; aculeiform cataract" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027369" "00296" "00033971" "00006" "Familial, autosomal dominant" "" "congenital" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027370" "00296" "00033972" "00006" "Familial, autosomal dominant" "" "congenital" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027371" "00296" "00033973" "00006" "Familial, autosomal dominant" "" "congenital; nuclear" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027372" "00296" "00033974" "00006" "Familial, autosomal dominant" "" "congenital; nuclear cataracts, microcornea" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027387" "00296" "00033989" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027392" "00296" "00033994" "00006" "Familial, autosomal dominant" "" "congenital; lamellar" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027417" "00296" "00034019" "00226" "Familial, autosomal dominant" "" "see paper; ..., congenital, nuclear cataract" "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "cataract" "" "0000027420" "00296" "00034022" "00245" "Familial, autosomal dominant" "" "see paper; ..., bilateral nuclear cataract, microphthalmia; bilateral cataracts in affected children" "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "cataract" "" "0000051168" "05165" "00065031" "00006" "Familial, autosomal dominant" "" "nuclear cataract; microcornea; likely dominant inheritance" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000051177" "05165" "00065040" "00006" "Familial, autosomal dominant" "" "nuclear, lamellar cataract" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052805" "05165" "00073116" "01604" "Familial, autosomal dominant" "" "nystagmus (HP:0000639), amblyopia (HP:0000646), no systemic abnormalities (-HP:?), no intellectual disability (-HP:0001249), no developmental malformation (-HP:?), no intrauterine infection (-HP:?), no metabolic disease (-HP:?)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052806" "05165" "00073118" "01604" "Familial, autosomal dominant" "" "nystagmus (HP:0000639), amblyopia (HP:0000646), no systemic abnormalities (-HP:?), no intellectual disability (-HP:0001249), no developmental malformation (-HP:?), no intrauterine infection (-HP:?), no metabolic disease (-HP:?)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052855" "05165" "00073184" "01604" "Familial, autosomal dominant" "" "bilateral nuclear cataracts (HP:0000519), microcornea (HP:0000482), nystagmus (HP:0000639), amblyopia (HP:0000646)" "" "08y" "" "" "" "" "" "" "" "" "" "" "" "" "0000052856" "05165" "00073186" "01604" "Familial, autosomal dominant" "68y" "bilateral nuclear cataracts (HP:0000519), microcornea (HP:0000482), nystagmus (HP:0000639), amblyopia (HP:0000646)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052857" "05165" "00073189" "01604" "Familial, autosomal dominant" "" "bilateral nuclear cataracts (HP:0000519), microcornea (HP:0000482), nystagmus (HP:0000639), amblyopia (HP:0000646)" "" "00y06m" "" "" "" "" "" "" "" "" "" "" "" "" "0000052858" "05165" "00073190" "01604" "Familial, autosomal dominant" "" "bilateral nuclear cataracts (HP:0000519), microcornea (HP:0000482), nystagmus (HP:0000639), amblyopia (HP:0000646)" "" "01y" "" "" "" "" "" "" "" "" "" "" "" "" "0000052859" "05165" "00073191" "01604" "Familial, autosomal dominant" "" "bilateral nuclear cataracts (HP:0000519), microcornea (HP:0000482), nystagmus (HP:0000639), amblyopia (HP:0000646)" "" "13y" "" "" "" "" "" "" "" "" "" "" "" "" "0000052861" "05165" "00073192" "01604" "Familial, autosomal dominant" "" "bilateral nuclear cataracts (HP:0000519), microcornea (HP:0000482), nystagmus (HP:0000639), amblyopia (HP:0000646)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081597" "00296" "00102738" "01954" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000228558" "00198" "00301380" "01164" "Unknown" "" "Congenital cataract (HP:0000519)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000253918" "00296" "00336003" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "childhood cataract" "" "0000259124" "04267" "00363777" "00000" "Unknown" "49y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "primary angle‐closure glaucoma" "" "0000324405" "00296" "00434026" "00006" "Familial, autosomal dominant" "" "congenital hereditary nuclear cataract; microphthalmos, concomitant strabismus, nystagmus; visual acuity 0.2/0.4" "" "1m" "" "" "" "" "" "" "" "" "" "CTRCT2" "cataract" "" "0000324454" "00296" "00434078" "00006" "Familial, autosomal dominant" "" "unilateral total cataract" "" "" "" "" "" "" "" "" "" "" "" "" "cataract" "" "0000324458" "00296" "00434082" "00006" "Familial, autosomal dominant" "" "bilateral nuclear cataract" "" "" "" "" "" "" "" "" "" "" "" "" "cataract" "" "0000324520" "00296" "00434162" "00006" "Isolated (sporadic)" "" "nuclear cataract; microphthalmia; no microcornea; iris malformations" "" "" "" "" "" "" "" "" "" "" "" "" "cataract" "" "0000324521" "00296" "00434163" "00006" "Familial, autosomal dominant" "" "nuclear cataract; no microphthalmia; no microcornea; iris malformations" "" "" "" "" "" "" "" "" "" "" "" "" "cataract" "" "0000324559" "00296" "00434201" "00006" "Familial, autosomal dominant" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "cataract" "" "0000324659" "00296" "00434301" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "congenital cataract" "" "0000333352" "00296" "00444097" "00006" "Isolated (sporadic)" "10y" "see paper; ..., 2m15d-bilateral symmetrical dense almost complete nuclear cataract not allowing fundus visibility, no ocular anomalies, no microcornea, no microphthalmia" "00y02m15d" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "cataract" "" "0000333356" "00296" "00444102" "00006" "Familial, autosomal dominant" "" "see paper; ..., nuclear cataract" "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "nuclear cataract" "" "0000333361" "00296" "00444107" "00006" "Unknown" "" "see paper; ..., congenital cataract" "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "congenital cataract" "" "0000333364" "00296" "00444111" "00006" "Familial, autosomal dominant" "" "bilateral nuclear cataract; strabismus" "4y" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "cataract" "" "0000333365" "00296" "00444112" "00006" "Familial, autosomal dominant" "" "bilateral nuclear cataract; strabismus" "3y" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "cataract" "" "0000333377" "00296" "00444124" "00006" "Familial, autosomal dominant" "" "bilateral lamellar cataract; strabismus" "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "cataract" "" "0000333378" "00296" "00444125" "00006" "Familial, autosomal dominant" "" "bilateral lamellar cataract; strabismus" "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "cataract" "" "0000333379" "00296" "00444126" "00006" "Familial, autosomal dominant" "" "bilateral lamellar cataract" "10y" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "cataract" "" "0000333380" "00296" "00444127" "00006" "Familial, autosomal dominant" "" "bilateral lamellar cataract" "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "cataract" "" "0000333381" "00296" "00444128" "00006" "Familial, autosomal dominant" "" "bilateral lamellar cataract" "6y" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "cataract" "" "0000333385" "00296" "00444131" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "congenital cataract" "" "0000333386" "00296" "00444132" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "bilateral cataracts" "" "0000333387" "00296" "00444133" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "bilateral cataracts" "" "0000333388" "00296" "00444134" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "bilateral cataracts" "" "0000333389" "00296" "00444135" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "bilateral cataracts" "" "0000333390" "00296" "00444136" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "bilateral cataracts" "" "0000333391" "00296" "00444137" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "bilateral cataracts" "" "0000333392" "00296" "00444138" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "bilateral cataracts" "" "0000333393" "00296" "00444139" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "bilateral cataracts" "" "0000333396" "00296" "00444142" "00006" "Familial, autosomal dominant" "" "see paper; ..., microcornea, aphakia, no coloboma, high intraocular pressure, corneal degeneration, retinal detachment" "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "cataracts" "" "0000333397" "00296" "00444143" "00006" "Familial, autosomal dominant" "" "see paper; ..., microcornea, psuedophakia, no coloboma, retinal detachment" "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "cataracts" "" "0000333399" "00296" "00444145" "00006" "Unknown" "" "see paper; ..., microcornea, cataract, optic disk coloboma" "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "cataracts" "" "0000333508" "04214" "00444255" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "congenital cataract" "" "0000333583" "00296" "00444330" "00006" "Familial, autosomal dominant" "" "nuclear cataract" "5y" "" "" "" "" "" "" "" "" "" "" "" "cataract" "" "0000334111" "00296" "00444861" "00006" "Familial, autosomal dominant" "" "binocular, all white" "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "cataract" "" "0000334117" "00296" "00444867" "00006" "Familial, autosomal dominant" "" "binocular, all white" "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "cataract" "" "0000334155" "00296" "00444905" "00006" "Familial, autosomal dominant" "" "see paper; ..., bilateral lamellar cataract; two children affected with lamellar cataracts; father/sister also affected" "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "cataract" "" "0000334180" "00296" "00444930" "00006" "Familial, autosomal dominant" "04y" "see paper; ..., nuclear cataract, full ocular movements, clear conjunctiva, normal anterior chamber" "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "cataract" "" "0000334205" "00296" "00444955" "00006" "Familial, autosomal dominant" "" "pediatric cataract with microcornea; not syndromic" "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "cataract" "" "0000334246" "00296" "00444995" "00006" "Familial, autosomal dominant" "" "unilateral or bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "cataract" "" "0000334255" "00296" "00445004" "00006" "Familial, autosomal dominant" "" "congenital cataract; microphthalmia/ microcornea, glaucoma, corneal opacity" "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "cataract" "" "0000334280" "00296" "00445027" "00006" "Familial, autosomal dominant" "00y02m" "bilateral nuclear cataract, microphthalmos, no other ocular/systemic abnormalities" "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "cataract" "" "0000334310" "00296" "00445058" "00006" "Familial, autosomal dominant" "" "cataract" "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "cataract" "" "0000334336" "00296" "00445083" "00006" "Isolated (sporadic)" "" "total cataract; microcornea; microphthalmos; non-syndromic; no aphakic glaucoma" "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "cataract" "" "0000334381" "00296" "00445128" "00006" "Familial, autosomal dominant" "" "see paper; ..., congenital cataract, nuclear cataract, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "cataract" "" "0000334382" "00296" "00445129" "00006" "Isolated (sporadic)" "00y00m15d" "see paper; ..., congenital cataract, microphthalmia, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "cataract" "" "0000335659" "00296" "00446437" "00006" "Isolated (sporadic)" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "congenital catarct" "" "0000335693" "00296" "00446473" "00006" "Familial, autosomal dominant" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "congenital catarct" "" "0000335694" "00296" "00446474" "00006" "Familial, autosomal dominant" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "congenital catarct" "" "0000335695" "00296" "00446475" "00006" "Familial, autosomal dominant" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "congenital catarct" "" "0000335752" "00296" "00446546" "00006" "Familial, autosomal dominant" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "congenital catarct" "" "0000335753" "00296" "00446547" "00006" "Familial, autosomal dominant" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "congenital catarct" "" "0000353434" "00296" "00468282" "00006" "Familial, autosomal dominant" "30y" "see paper; ..., poor vision left eye since childhood; mother bilateral congenital cataracts" "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "poor vision" "" "0000353451" "00296" "00468299" "00006" "Familial, autosomal dominant" "25.0y" "see paper; ..., cataract; post operative glaucoma; microcornea; microphthalmia; nystagmus; 3y-surgery" "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "cataract" "" "0000353455" "00296" "00468303" "00006" "Familial, autosomal dominant" "1.1y" "see paper; ..., cataract; microcornea; microphthalmia; nystagmus; 0.4y-surgery" "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "cataract" "" "0000353515" "00296" "00468363" "00006" "Familial, autosomal dominant" "15.0y" "see paper; ..., total cataract; microcornea; microphthalmia; nystagmus; 15.0y-surgery" "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "cataract" "" "0000353516" "00296" "00468364" "00006" "Familial, autosomal dominant" "0.3y" "see paper; ..., cataract; microcornea; microphthalmia; nystagmus; 1.2y-surgery" "" "" "" "" "" "" "" "" "" "" "" "" "cataract" "" "0000353537" "00296" "00468385" "00006" "Familial, autosomal dominant" "28.8y" "see paper; ..., cataract; microcornea; nystagmus; 1.0y-surgery" "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "cataract" "" "0000353538" "00296" "00468386" "00006" "Familial, autosomal dominant" "0.5y" "see paper; ..., total cataract; microcornea; microphthalmia; 0.5y-surgery" "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "cataract" "" "0000353576" "00296" "00468424" "00006" "Familial, autosomal dominant" "23.5y" "see paper; ..., nuclear cataract; microcornea; microphthalmia; nystagmus; 15.0y-surgery" "" "" "" "" "" "" "" "" "" "" "" "CTRCT2" "cataract" "" ## Screenings ## Do not remove or alter this header ## ## Count = 89 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000013577" "00013661" "1" "00100" "00100" "2011-11-30 15:31:37" "00006" "2019-08-02 20:11:40" "SEQ" "DNA" "leukocytes" "screen APC gene (index patient)" "0000013578" "00013662" "1" "00100" "00100" "2011-11-30 15:31:37" "00006" "2019-08-02 20:11:40" "SEQ" "DNA" "leukocytes" "test known APC variant (relative)" "0000033926" "00033858" "1" "00006" "00006" "2007-06-21 20:00:00" "00006" "2012-05-18 14:01:03" "SEQ" "DNA" "" "" "0000033927" "00033859" "1" "00006" "00006" "2007-06-21 20:00:00" "00006" "2012-05-18 14:01:03" "SEQ" "DNA" "" "" "0000033928" "00033860" "1" "00006" "00006" "2007-06-21 20:00:00" "00006" "2012-05-18 14:01:03" "SEQ" "DNA" "" "" "0000033929" "00033861" "1" "00006" "00006" "2007-06-21 20:00:00" "00006" "2012-05-18 14:01:03" "SEQ" "DNA" "" "" "0000033990" "00033922" "1" "00006" "00006" "2010-06-14 23:33:39" "00006" "2012-05-18 14:01:03" "SEQ" "DNA" "" "" "0000034037" "00033969" "1" "00006" "00006" "2011-02-16 21:41:35" "00006" "2012-05-18 14:01:03" "SEQ" "DNA" "" "" "0000034038" "00033970" "1" "00006" "00006" "2011-02-16 21:41:35" "00006" "2012-05-18 14:01:03" "SEQ" "DNA" "" "" "0000034039" "00033971" "1" "00006" "00006" "2011-02-16 21:41:35" "00006" "2012-05-18 14:01:03" "SEQ" "DNA" "" "" "0000034040" "00033972" "1" "00006" "00006" "2011-02-16 22:11:34" "00006" "2012-05-18 14:01:03" "SEQ" "DNA" "" "" "0000034041" "00033973" "1" "00006" "00006" "2011-02-16 22:11:34" "00006" "2012-05-18 14:01:03" "SEQ" "DNA" "" "" "0000034042" "00033974" "1" "00006" "00006" "2011-02-16 22:11:34" "00006" "2012-05-18 14:01:03" "SEQ" "DNA" "" "" "0000034057" "00033989" "1" "00006" "00006" "2011-02-20 10:58:23" "00006" "2012-05-18 14:01:03" "SEQ" "DNA" "" "" "0000034062" "00033994" "1" "00006" "00006" "2011-02-20 13:27:42" "00006" "2012-05-18 14:01:03" "SEQ" "DNA" "" "" "0000034087" "00034019" "1" "00226" "00226" "2011-10-18 09:14:59" "00006" "2012-05-18 14:01:03" "SEQ" "DNA" "" "" "0000034090" "00034022" "1" "00245" "00245" "2013-09-04 09:45:44" "00006" "2013-10-03 15:47:23" "SEQ;SEQ-NG-I" "DNA" "" "" "0000065173" "00065031" "1" "00006" "00006" "2016-05-15 22:17:13" "00006" "2016-05-15 22:43:18" "SEQ;SEQ-NG" "DNA" "" "" "0000065182" "00065040" "1" "00006" "00006" "2016-05-15 22:17:13" "00006" "2016-05-15 22:51:16" "SEQ;SEQ-NG" "DNA" "" "" "0000073276" "00073116" "1" "01604" "01604" "2016-06-07 12:05:00" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000073277" "00073118" "1" "01604" "01604" "2016-06-07 12:26:21" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000073344" "00073184" "1" "01604" "01604" "2016-06-09 14:59:55" "" "" "PCR" "DNA" "" "" "0000073345" "00073186" "1" "01604" "01604" "2016-06-09 15:04:35" "" "" "PCR" "DNA" "" "" "0000073347" "00073189" "1" "01604" "01604" "2016-06-09 15:09:15" "" "" "PCR" "DNA" "" "" "0000073348" "00073190" "1" "01604" "01604" "2016-06-09 15:12:56" "" "" "PCR" "DNA" "" "" "0000073349" "00073191" "1" "01604" "01604" "2016-06-09 15:16:01" "" "" "PCR" "DNA" "" "" "0000073351" "00073192" "1" "01604" "01604" "2016-06-09 15:18:29" "" "" "PCR" "DNA" "" "" "0000103191" "00102738" "1" "01954" "01954" "2017-04-03 00:38:03" "" "" "SEQ" "DNA" "" "" "0000293718" "00292550" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000302501" "00301380" "1" "01164" "01164" "2020-05-15 11:07:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000337233" "00336003" "1" "00000" "00006" "2021-03-10 17:05:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000365005" "00363777" "1" "00000" "00006" "2021-04-30 09:22:49" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000435489" "00434026" "1" "00006" "00006" "2023-03-17 16:18:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000435545" "00434078" "1" "00006" "00006" "2023-03-19 16:52:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435549" "00434082" "1" "00006" "00006" "2023-03-19 16:52:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435630" "00434162" "1" "00006" "00006" "2023-03-21 17:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435631" "00434163" "1" "00006" "00006" "2023-03-21 17:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435669" "00434201" "1" "00006" "00006" "2023-03-21 19:50:25" "" "" "SEQ" "DNA" "" "CRY-gene panel" "0000435769" "00434301" "1" "00006" "00006" "2023-03-22 17:55:46" "" "" "SEQ;SEQ-NG" "DNA" "" "18-gene panel" "0000445595" "00444097" "1" "00006" "00006" "2023-12-17 13:19:12" "" "" "SEQ-NG" "DNA" "" "WES" "0000445600" "00444102" "1" "00006" "00006" "2023-12-18 09:13:50" "" "" "SEQ-NG" "DNA" "" "WES" "0000445605" "00444107" "1" "00006" "00006" "2023-12-18 09:13:50" "" "" "SEQ-NG" "DNA" "" "WES" "0000445608" "00444111" "1" "00006" "00006" "2023-12-18 16:39:30" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000445609" "00444112" "1" "00006" "00006" "2023-12-18 16:39:30" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000445621" "00444124" "1" "00006" "00006" "2023-12-18 16:39:30" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000445622" "00444125" "1" "00006" "00006" "2023-12-18 16:39:30" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000445623" "00444126" "1" "00006" "00006" "2023-12-18 16:39:30" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000445624" "00444127" "1" "00006" "00006" "2023-12-18 16:39:30" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000445625" "00444128" "1" "00006" "00006" "2023-12-18 16:39:30" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000445628" "00444131" "1" "00006" "00006" "2023-12-18 16:45:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445630" "00444132" "1" "00006" "00006" "2023-12-18 17:46:20" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000445631" "00444133" "1" "00006" "00006" "2023-12-18 17:46:20" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000445632" "00444134" "1" "00006" "00006" "2023-12-18 17:46:20" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000445633" "00444135" "1" "00006" "00006" "2023-12-18 17:46:20" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000445634" "00444136" "1" "00006" "00006" "2023-12-18 17:46:20" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000445635" "00444137" "1" "00006" "00006" "2023-12-18 17:46:20" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000445636" "00444138" "1" "00006" "00006" "2023-12-18 17:46:20" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000445637" "00444139" "1" "00006" "00006" "2023-12-18 17:46:20" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000445640" "00444142" "1" "00006" "00006" "2023-12-18 20:45:44" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000445641" "00444143" "1" "00006" "00006" "2023-12-18 20:45:44" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000445643" "00444145" "1" "00006" "00006" "2023-12-18 20:45:44" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000445829" "00444255" "1" "00006" "00006" "2023-12-21 19:04:03" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000445898" "00444330" "1" "00006" "00006" "2023-12-21 22:12:43" "" "" "SEQ;SEQ-NG" "DNA" "" "80 gene panel" "0000446430" "00444861" "1" "00006" "00006" "2023-12-28 14:50:54" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000446436" "00444867" "1" "00006" "00006" "2023-12-28 14:50:54" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000446474" "00444905" "1" "00006" "00006" "2023-12-28 19:27:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000446499" "00444930" "1" "00006" "00006" "2023-12-28 19:44:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000446524" "00444955" "1" "00006" "00006" "2023-12-29 13:59:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000446564" "00444995" "1" "00006" "00006" "2023-12-29 15:44:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000446573" "00445004" "1" "00006" "00006" "2023-12-29 15:44:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000446597" "00445027" "1" "00006" "00006" "2023-12-31 10:08:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000446628" "00445058" "1" "00006" "00006" "2024-01-02 15:26:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000446653" "00445083" "1" "00006" "00006" "2024-01-02 18:58:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000446698" "00445128" "1" "00006" "00006" "2024-01-02 21:24:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000446699" "00445129" "1" "00006" "00006" "2024-01-02 21:31:14" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000448010" "00446437" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000448046" "00446473" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000448047" "00446474" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000448048" "00446475" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000448119" "00446546" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000448120" "00446547" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000469948" "00468282" "1" "00006" "00006" "2025-11-08 15:25:15" "" "" "SEQ-NG" "DNA" "" "WES" "0000469965" "00468299" "1" "00006" "00006" "2025-11-08 17:41:52" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469969" "00468303" "1" "00006" "00006" "2025-11-08 17:41:52" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000470029" "00468363" "1" "00006" "00006" "2025-11-08 17:41:52" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000470030" "00468364" "1" "00006" "00006" "2025-11-08 17:41:52" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000470051" "00468385" "1" "00006" "00006" "2025-11-08 17:41:52" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000470052" "00468386" "1" "00006" "00006" "2025-11-08 17:41:52" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000470090" "00468424" "1" "00006" "00006" "2025-11-08 17:41:52" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 32 "{{screeningid}}" "{{geneid}}" "0000013577" "APC" "0000013578" "APC" "0000033926" "CRYGC" "0000033927" "CRYGC" "0000033928" "CRYGC" "0000033929" "CRYGC" "0000033990" "CRYGC" "0000034037" "CRYGC" "0000034038" "CRYGC" "0000034039" "CRYGC" "0000034040" "CRYGC" "0000034041" "CRYGC" "0000034042" "CRYGC" "0000034057" "CRYAA" "0000034057" "CRYGC" "0000034057" "CRYGD" "0000034062" "CRYGC" "0000034087" "CRYGC" "0000034090" "CRYGC" "0000065173" "CRYGC" "0000065182" "CRYGC" "0000073276" "CRYGC" "0000073277" "CRYGC" "0000073344" "CRYGC" "0000073345" "CRYGC" "0000073347" "CRYGC" "0000073348" "CRYGC" "0000073349" "CRYGC" "0000073351" "CRYGC" "0000103191" "CRYGC" "0000337233" "CRYGC" "0000365005" "CRYGC" ## 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 = 146 "{{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}}" "0000061001" "1" "90" "2" "208994404" "208994404" "subst" "0" "00006" "CRYGC_000001" "g.208994404T>G" "" "{PMID:Heon 1999:10521291}, {OMIM123680:0001}" "" "225A>C" "not in 430 control chromosomes" "Germline" "" "" "0" "" "" "g.208129680T>G" "" "pathogenic" "" "0000061002" "1" "90" "2" "208994404" "208994404" "subst" "0" "00006" "CRYGC_000001" "g.208994404T>G" "" "{PMID:Heon 1999:10521291}, {OMIM123680:0001}" "" "225A>C" "not in 430 control chromosomes" "Germline" "" "" "0" "" "" "g.208129680T>G" "" "pathogenic" "" "0000061003" "1" "90" "2" "208994404" "208994404" "subst" "0" "00006" "CRYGC_000001" "g.208994404T>G" "" "{PMID:Heon 1999:10521291}, {OMIM123680:0001}" "" "225A>C" "not in 430 control chromosomes" "Germline" "" "" "0" "" "" "g.208129680T>G" "" "pathogenic" "" "0000061004" "0" "90" "2" "208994404" "208994404" "subst" "0" "00006" "CRYGC_000001" "g.208994404T>G" "" "{PMID:Fu 2003:12601044}, {OMIM123680:0001}" "" "" "yeat-two-hybrid analysis decreased interaction CRYAA, CRYAB, CRYBB2, CRYGC (not with itself)" "In vitro (cloned)" "" "" "0" "" "" "g.208129680T>G" "" "NA" "" "0000061005" "1" "90" "2" "208994404" "208994404" "subst" "0" "00006" "CRYGC_000001" "g.208994404T>G" "" "" "" "225A>C" "" "Germline" "" "rs104893618" "0" "" "" "g.208129680T>G" "" "pathogenic" "" "0000061006" "1" "90" "2" "208994294" "208994298" "dup" "0" "00006" "CRYGC_000002" "g.208994294_208994298dup" "" "{PMID:Ren 2000:10914683}, {OMIM123680:0002}" "" "" "mapped by linkage (LOD score 6.0)" "Germline" "" "" "0" "" "" "g.208129570_208129574dup" "" "pathogenic" "" "0000061007" "1" "90" "2" "208992950" "208992950" "subst" "0.00161651" "00006" "CRYGC_000003" "g.208992950G>A" "" "{PMID:Santhiya 2002:12011157}, {OMIM123680:0003}" "" "" "" "Germline" "" "rs28931604" "0" "" "" "g.208128226G>A" "" "pathogenic" "" "0000061008" "1" "90" "2" "208992950" "208992950" "subst" "0.00161651" "00006" "CRYGC_000003" "g.208992950G>A" "" "{PMID:Gonzalez-Huerta 2007:17679936}" "" "" "" "Germline" "" "rs28931604" "0" "" "" "g.208128226G>A" "" "pathogenic" "" "0000061009" "1" "90" "2" "208992950" "208992950" "subst" "0.00161651" "00006" "CRYGC_000003" "g.208992950G>A" "" "{PMID:Devi 2008:18587492}" "" "" "" "Germline" "" "rs28931604" "0" "" "" "g.208128226G>A" "" "pathogenic" "" "0000061010" "0" "50" "2" "208994274" "208994274" "subst" "0.0169857" "00006" "CRYGC_000004" "g.208994274C>T" "03/17/15" "{PMID:Santhiya 2002:12011157}" "HgaI" "" "" "Germline" "" "" "0" "" "" "g.208129550C>T" "" "VUS" "" "0000061011" "1" "50" "2" "208994274" "208994274" "subst" "0.0169857" "00006" "CRYGC_000004" "g.208994274C>T" "" "ESHG2010 Gonzalez-Huerta P12.034" "HgaI" "" "not in 240 control chromosomes" "Germline" "" "" "0" "" "" "g.208129550C>T" "" "VUS" "" "0000061012" "0" "10" "2" "208994384" "208994384" "subst" "0.00144563" "00006" "CRYGC_000004" "g.208994384G>A" "01/17/15" "{PMID:Santhiya 2002:12011157}" "" "A11A" "" "Germline" "" "" "0" "" "" "g.208129660G>A" "" "benign" "" "0000061013" "1" "90" "2" "208993125" "208993125" "subst" "0" "00006" "CRYGC_000005" "g.208993125G>T" "" "{PMID:Yao 2008:18618005}" "" "" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.208128401G>T" "" "pathogenic" "" "0000061014" "1" "90" "2" "208992982" "208992982" "subst" "0" "00006" "CRYGC_000006" "g.208992982C>T" "" "{PMID:Zhang 2009:19204787}" "" "" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.208128258C>T" "" "pathogenic" "" "0000061015" "0" "10" "2" "208993095" "208993095" "subst" "0.00324496" "00006" "CRYGC_000007" "g.208993095G>A" "" "{PMID:Santana 2009:19390652}" "01/11/15" "C>T S119S" "not in 100 control chromosomes; 1/11 families tested (5/7 affecteds)" "Germline" "" "" "0" "" "" "g.208128371G>A" "" "benign" "" "0000061016" "21" "90" "2" "208993067" "208993067" "subst" "0" "00226" "CRYGC_000008" "g.208993067C>A" "" "{PMID:Li 2012:22052681}" "" "" "" "Germline" "yes" "" "0" "" "" "g.208128343C>A" "" "pathogenic" "" "0000061017" "0" "90" "2" "208992955" "208992955" "subst" "0" "00245" "CRYGC_000009" "g.208992955G>A" "" "{PMID:Prokudin 2014:24281366}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.208128231G>A" "" "pathogenic (dominant)" "" "0000096838" "1" "70" "2" "208994283" "208994283" "subst" "0" "00006" "CRYGC_000011" "g.208994283A>G" "" "{PMID:Gillespie 2014:25148791}, {DOI:Gillespie 2014:10.1016/j.ophtha.2014.06.006}" "" "" "" "Germline" "" "" "0" "" "" "g.208129559A>G" "" "likely pathogenic" "" "0000096860" "1" "90" "2" "208993050" "208993050" "subst" "0" "00006" "CRYGC_000010" "g.208993050G>C" "" "{PMID:Gillespie 2014:25148791}, {DOI:Gillespie 2014:10.1016/j.ophtha.2014.06.006}" "" "" "" "De novo" "" "" "0" "" "" "g.208128326G>C" "" "pathogenic" "" "0000116898" "1" "90" "2" "208994293" "208994293" "del" "0" "01604" "CRYGC_000013" "g.208994293del" "" "{PMID:Kondo 2013:23441109}" "" "" "" "Germline" "yes" "" "0" "" "" "g.208129569del" "" "pathogenic" "" "0000116899" "11" "90" "2" "208994293" "208994293" "del" "0" "01604" "CRYGC_000013" "g.208994293del" "" "{PMID:Kondo 2013:23441109}" "" "" "" "Germline" "yes" "" "0" "" "" "g.208129569del" "" "pathogenic" "" "0000116998" "11" "90" "2" "208992981" "208992981" "subst" "0" "01604" "CRYGC_000012" "g.208992981C>T" "" "{PMID:Guo 2012:22876111}" "" "" "" "Germline" "yes" "" "0" "" "" "g.208128257C>T" "" "pathogenic" "" "0000117002" "1" "90" "2" "208992981" "208992981" "subst" "0" "01604" "CRYGC_000012" "g.208992981C>T" "" "{PMID:Guo 2012:22876111}" "" "" "" "Germline" "yes" "" "0" "" "" "g.208128257C>T" "" "pathogenic" "" "0000117003" "11" "90" "2" "208992981" "208992981" "subst" "0" "01604" "CRYGC_000012" "g.208992981C>T" "" "{PMID:Guo 2012:22876111}" "" "" "" "Germline" "yes" "" "0" "" "" "g.208128257C>T" "" "pathogenic" "" "0000117004" "21" "90" "2" "208992981" "208992981" "subst" "0" "01604" "CRYGC_000012" "g.208992981C>T" "" "{PMID:Guo 2012:22876111}" "" "" "" "Germline" "yes" "" "0" "" "" "g.208128257C>T" "" "pathogenic" "" "0000117005" "11" "90" "2" "208992981" "208992981" "subst" "0" "01604" "CRYGC_000012" "g.208992981C>T" "" "{PMID:Guo 2012:22876111}" "" "" "" "Germline" "yes" "" "0" "" "" "g.208128257C>T" "" "pathogenic" "" "0000117007" "21" "90" "2" "208992981" "208992981" "subst" "0" "01604" "CRYGC_000012" "g.208992981C>T" "" "{PMID:Guo 2012:22876111}" "" "" "" "Germline" "yes" "" "0" "" "" "g.208128257C>T" "" "pathogenic" "" "0000166299" "11" "70" "2" "208994408" "208994408" "subst" "4.06078E-6" "01954" "CRYGC_000014" "g.208994408C>T" "" "" "" "20899414C>T" "" "Germline" "yes" "" "0" "" "" "g.208129684C>T" "" "likely pathogenic" "" "0000248992" "0" "10" "2" "208986385" "208986385" "subst" "0.877451" "02325" "CRYGD_000019" "g.208986385A>G" "" "" "" "CRYGD(NM_006891.4):c.*12T>C, LOC100507443(NR_038437.1):n.97+2436A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.208121661A>G" "" "benign" "" "0000248994" "0" "10" "2" "208989037" "208989037" "subst" "0.583727" "02325" "CRYGD_000007" "g.208989037A>G" "" "" "" "CRYGD(NM_006891.4):c.51T>C (p.Y17=), LOC100507443(NR_038437.1):n.97+5088A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.208124313A>G" "" "benign" "" "0000267144" "0" "10" "2" "208986637" "208986637" "subst" "0.848053" "02325" "CRYGD_000006" "g.208986637T>C" "" "" "" "CRYGD(NM_006891.4):c.285A>G (p.R95=), LOC100507443(NR_038437.1):n.97+2688T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.208121913T>C" "" "benign" "" "0000274461" "0" "30" "2" "209007566" "209007566" "subst" "3.26315E-5" "01943" "CRYGB_000007" "g.209007566G>A" "" "" "" "CRYGB(NM_005210.3):c.324C>T (p.D108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.208142842G>A" "" "likely benign" "" "0000274462" "0" "10" "2" "208994297" "208994297" "subst" "0.000828393" "01943" "CRYGC_000019" "g.208994297G>A" "" "" "" "CRYGC(NM_020989.3):c.120C>T (p.S40=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.208129573G>A" "" "benign" "" "0000274463" "0" "70" "2" "208994516" "208994516" "subst" "4.06111E-6" "01943" "CRYGC_000020" "g.208994516T>C" "" "" "" "CRYGC(NM_020989.3):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.208129792T>C" "" "likely pathogenic" "" "0000274464" "0" "30" "2" "208993135" "208993135" "subst" "0.00356223" "01943" "CRYGC_000016" "g.208993135C>T" "" "" "" "CRYGC(NM_020989.3):c.317G>A (p.S106N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.208128411C>T" "" "likely benign" "" "0000274465" "0" "90" "2" "208992982" "208992982" "subst" "0" "01943" "CRYGC_000006" "g.208992982C>T" "" "" "" "CRYGC(NM_020989.3):c.470G>A (p.W157*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.208128258C>T" "" "pathogenic" "" "0000274466" "0" "50" "2" "208992979" "208992979" "subst" "0" "01943" "CRYGC_000015" "g.208992979C>T" "" "" "" "CRYGC(NM_020989.3):c.473G>A (p.G158E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.208128255C>T" "" "VUS" "" "0000274467" "0" "30" "2" "208988848" "208988848" "subst" "0.000152002" "01943" "CRYGD_000031" "g.208988848G>A" "" "" "" "CRYGD(NM_006891.3):c.240C>T (p.R80=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.208124124G>A" "" "likely benign" "" "0000274468" "0" "50" "2" "208986546" "208986546" "subst" "0.00193702" "01943" "CRYGD_000030" "g.208986546C>T" "" "" "" "CRYGD(NM_006891.3):c.376G>A (p.V126M), CRYGD(NM_006891.4):c.376G>A (p.V126M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.208121822C>T" "" "VUS" "" "0000274469" "0" "30" "2" "208989025" "208989025" "subst" "0.000654556" "01943" "CRYGD_000033" "g.208989025G>A" "" "" "" "CRYGD(NM_006891.3):c.63C>T (p.S21=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.208124301G>A" "" "likely benign" "" "0000328063" "0" "30" "2" "208994265" "208994265" "subst" "4.87286E-5" "01804" "CRYGC_000018" "g.208994265T>C" "" "" "" "CRYGC(NM_020989.3):c.152A>G (p.(Tyr51Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.208129541T>C" "" "likely benign" "" "0000328064" "0" "50" "2" "209010616" "209010616" "subst" "0" "01804" "CRYGB_000008" "g.209010616A>G" "" "" "" "CRYGB(NM_005210.3):c.134T>C (p.(Ile45Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.208145892A>G" "" "VUS" "" "0000339633" "0" "10" "2" "208989037" "208989037" "subst" "0.583727" "02327" "CRYGD_000007" "g.208989037A>G" "" "" "" "CRYGD(NM_006891.4):c.51T>C (p.Y17=), LOC100507443(NR_038437.1):n.97+5088A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.208124313A>G" "" "benign" "" "0000344889" "0" "90" "2" "208994256" "208994265" "del" "0" "02327" "CRYGC_000022" "g.208994256_208994265del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.208129532_208129541del" "" "pathogenic" "" "0000348768" "0" "50" "2" "208992955" "208992955" "subst" "8.12216E-6" "02327" "CRYGC_000021" "g.208992955G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.208128231G>C" "" "VUS" "" "0000350162" "0" "30" "2" "208988900" "208988900" "subst" "5.3301E-5" "02327" "CRYGD_000034" "g.208988900T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.208124176T>C" "" "likely benign" "" "0000514015" "0" "30" "2" "208986487" "208986487" "subst" "7.31422E-5" "01943" "CRYGB_000009" "g.208986487C>T" "" "" "" "CRYGD(NM_006891.3):c.435G>A (p.L145=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.208121763C>T" "" "likely benign" "" "0000514016" "0" "30" "2" "208986514" "208986514" "subst" "4.06197E-6" "01943" "CRYGB_000010" "g.208986514C>T" "" "" "" "CRYGD(NM_006891.3):c.408G>A (p.L136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.208121790C>T" "" "likely benign" "" "0000514017" "0" "30" "2" "208988829" "208988829" "subst" "0.00337068" "01943" "CRYGB_000011" "g.208988829T>C" "" "" "" "CRYGD(NM_006891.3):c.252+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.208124105T>C" "" "likely benign" "" "0000514018" "0" "10" "2" "208988920" "208988920" "subst" "0.00621571" "01943" "CRYGD_000011" "g.208988920G>C" "" "" "" "CRYGD(NM_006891.3):c.168C>G (p.Y56*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.208124196G>C" "" "benign" "" "0000514021" "0" "30" "2" "208988958" "208988958" "subst" "0.00773688" "01943" "CRYGD_000032" "g.208988958T>C" "" "" "" "CRYGD(NM_006891.3):c.130A>G (p.M44V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.208124234T>C" "" "likely benign" "" "0000514022" "0" "30" "2" "208989085" "208989085" "subst" "0.000916359" "01804" "CRYGB_000013" "g.208989085G>C" "" "" "" "CRYGD(NM_006891.3):c.10-7C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.208124361G>C" "" "likely benign" "" "0000514024" "0" "30" "2" "208994241" "208994241" "subst" "7.31071E-5" "01804" "CRYGB_000015" "g.208994241C>T" "" "" "" "CRYGC(NM_020989.3):c.176G>A (p.(Arg59Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.208129517C>T" "" "likely benign" "" "0000514025" "0" "30" "2" "208994253" "208994253" "subst" "0.000272068" "01804" "CRYGB_000016" "g.208994253T>C" "" "" "" "CRYGC(NM_020989.4):c.164A>G (p.(Gln55Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.208129529T>C" "" "likely benign" "" "0000514026" "0" "70" "2" "208994354" "208994356" "del" "0" "01943" "CRYGB_000017" "g.208994354_208994356del" "" "" "" "CRYGC(NM_020989.3):c.61_63delACT (p.T21del), CRYGC(NM_020989.4):c.61_63del (p.(Thr21del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.208129630_208129632del" "" "likely pathogenic" "" "0000514027" "0" "30" "2" "209010498" "209010498" "subst" "6.57316E-5" "02327" "CRYGB_000018" "g.209010498C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.208145774C>T" "" "likely benign" "" "0000514028" "0" "30" "2" "209010530" "209010530" "subst" "4.49501E-5" "01943" "CRYGB_000019" "g.209010530C>T" "" "" "" "CRYGB(NM_005210.3):c.220G>A (p.D74N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.208145806C>T" "" "likely benign" "" "0000514029" "0" "10" "2" "209010558" "209010558" "subst" "0.475507" "02327" "CRYGB_000002" "g.209010558A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.208145834A>G" "" "benign" "" "0000514030" "0" "50" "2" "209010569" "209010569" "subst" "0.00014627" "01943" "CRYGB_000020" "g.209010569C>T" "" "" "" "CRYGB(NM_005210.3):c.181G>A (p.G61R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.208145845C>T" "" "VUS" "" "0000607399" "0" "50" "2" "209010571" "209010571" "subst" "0.000199077" "01943" "CRYGB_000021" "g.209010571C>T" "" "" "" "CRYGB(NM_005210.3):c.179G>A (p.R60H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.208145847C>T" "" "VUS" "" "0000650407" "1" "50" "2" "208992950" "208992950" "subst" "0.00161651" "03575" "CRYGC_000003" "g.208992950G>A" "62/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "62 heterozygous, no homozygous; {DB:CLININrs28931604}" "Germline" "" "rs28931604" "0" "" "" "g.208128226G>A" "" "VUS" "" "0000665790" "0" "90" "2" "208992982" "208992982" "subst" "0" "01164" "CRYGC_000006" "g.208992982C>T" "" "" "" "" "ACMG grading: PVS1,PM2,PP5; age at diagnosis: 56y; Svenson et al. 2001. Am J Hum Genet 68: 1077; Nantti et al. 2012. Neurosci Lett. 2: 42" "Germline" "" "rs398122392" "0" "" "" "g.208128258C>T" "" "pathogenic" "ACMG" "0000676449" "0" "30" "2" "209007363" "209007363" "subst" "0" "01943" "CRYGB_000022" "g.209007363C>T" "" "" "" "CRYGB(NM_005210.3):c.527G>A (p.*176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688605" "0" "50" "2" "208993027" "208993027" "subst" "2.84245E-5" "01943" "CRYGB_000023" "g.208993027C>T" "" "" "" "CRYGC(NM_020989.3):c.425G>A (p.R142Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688606" "0" "30" "2" "209010519" "209010519" "subst" "4.0951E-6" "01943" "CRYGB_000024" "g.209010519G>A" "" "" "" "CRYGB(NM_005210.3):c.231C>T (p.R77=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718397" "0" "50" "2" "208994187" "208994187" "subst" "0.000102409" "02327" "CRYGB_000025" "g.208994187C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718398" "0" "50" "2" "209025634" "209025634" "subst" "2.43673E-5" "02329" "C2orf80_000001" "g.209025634C>A" "" "" "" "CRYGA(NM_014617.4):c.419G>T (p.R140L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000736863" "1" "70" "2" "208994354" "208994356" "del" "0" "00000" "CRYGB_000017" "g.208994354_208994356del" "1/181 individuals" "{PMID:Sergouniotis 2016:27628848}" "" "" "no genotypes reported" "Germline" "" "" "0" "" "" "g.208129630_208129632del" "" "likely pathogenic" "" "0000765955" "0" "70" "2" "208994307" "208994307" "subst" "0.000109646" "00000" "CRYGC_000023" "g.208994307C>T" "" "{PMID:Huang 2015:26310487}" "" "" "" "Germline" "" "" "0" "" "" "g.208129583C>T" "" "likely pathogenic" "" "0000800284" "0" "30" "2" "208993050" "208993050" "subst" "0.000186791" "01943" "CRYGB_000026" "g.208993050G>A" "" "" "" "CRYGC(NM_020989.3):c.402C>T (p.Y134=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800285" "0" "70" "2" "208993067" "208993067" "subst" "0" "02329" "CRYGC_000008" "g.208993067C>A" "" "" "" "CRYGC(NM_020989.4):c.385G>T (p.G129C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000858248" "0" "50" "2" "209007492" "209007492" "subst" "4.06184E-6" "01943" "CRYGB_000027" "g.209007492A>C" "" "" "" "CRYGB(NM_005210.3):c.398T>G (p.I133S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000884695" "0" "30" "2" "208986546" "208986546" "subst" "0.00193702" "02325" "CRYGD_000030" "g.208986546C>T" "" "" "" "CRYGD(NM_006891.3):c.376G>A (p.V126M), CRYGD(NM_006891.4):c.376G>A (p.V126M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884696" "0" "50" "2" "208994239" "208994239" "subst" "2.03095E-5" "02325" "CRYGB_000028" "g.208994239G>A" "" "" "" "CRYGC(NM_020989.4):c.178C>T (p.R60*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000884697" "0" "70" "2" "208994354" "208994356" "del" "0" "02327" "CRYGB_000017" "g.208994354_208994356del" "" "" "" "CRYGC(NM_020989.3):c.61_63delACT (p.T21del), CRYGC(NM_020989.4):c.61_63del (p.(Thr21del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000921498" "11" "70" "2" "208994334" "208994334" "subst" "0" "00006" "CRYGC_000028" "g.208994334G>A" "" "{PMID:Jiao 2022:36670602}" "" "" "" "Germline" "" "" "0" "" "" "g.208129610G>A" "" "likely pathogenic (dominant)" "" "0000921545" "1" "90" "2" "208993172" "208993172" "subst" "4.47511E-5" "00006" "CRYGC_000027" "g.208993172C>T" "" "{PMID:Li 2016:27307692}" "" "" "" "Germline" "" "" "0" "" "" "g.208128448C>T" "" "pathogenic" "" "0000921549" "1" "90" "2" "208993115" "208993115" "subst" "0" "00006" "CRYGC_000026" "g.208993115G>A" "" "{PMID:Li 2016:27307692}" "" "" "" "Germline" "" "" "0" "" "" "g.208128391G>A" "" "pathogenic" "" "0000921791" "0" "70" "2" "208993021" "208993028" "dup" "0" "00006" "CRYGC_000025" "g.208993021_208993028dup" "" "{PMID:Fernandez-Alcalde 2021:33923544}" "" "" "" "De novo" "" "" "0" "" "" "g.208128297_208128304dup" "" "likely pathogenic (dominant)" "" "0000921792" "21" "70" "2" "208993014" "208993014" "del" "0" "00006" "CRYGC_000024" "g.208993014del" "" "{PMID:Fernandez-Alcalde 2021:33923544}" "" "438delG" "" "Germline" "" "" "0" "" "" "g.208128290del" "" "likely pathogenic (dominant)" "" "0000921842" "1" "70" "2" "208994253" "208994253" "subst" "0.000272068" "00006" "CRYGB_000016" "g.208994253T>C" "" "{PMID:Karahan 2021:33864186}" "" "" "" "Germline" "" "rs144295934" "0" "" "" "" "" "VUS" "ACMG" "0000921963" "1" "90" "2" "208994408" "208994408" "subst" "4.06078E-6" "00006" "CRYGC_000014" "g.208994408C>T" "" "{PMID:Zhuang 2019:31523120}" "" "" "ACMG PVS1, PM2, PP1, PP2, PP3" "Germline" "" "" "0" "" "" "g.208129684C>T" "" "pathogenic (dominant)" "ACMG" "0000923565" "0" "50" "2" "208994280" "208994280" "subst" "2.84245E-5" "02329" "CRYGB_000029" "g.208994280T>C" "" "" "" "CRYGC(NM_020989.4):c.137A>G (p.Y46C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000953685" "0" "90" "2" "208993061" "208993061" "subst" "0" "00006" "CRYGC_000029" "g.208993061A>G" "" "{PMID:Delas 2023:38068917}" "" "" "ACMG PP3, PM1, PM2, PS2" "De novo" "" "" "0" "" "" "NC_000002.12:g.208128337A>G" "" "pathogenic (dominant)" "ACMG" "0000953690" "11" "90" "2" "208994238" "208994238" "del" "0" "00006" "CRYGC_000040" "g.208994238del" "" "{PMID:Berry 2020:33243271}" "" "179delG" "" "Germline" "yes" "" "0" "" "" "g.208129514del" "" "pathogenic (dominant)" "" "0000953695" "0" "70" "2" "208994404" "208994404" "subst" "0" "00006" "CRYGC_000001" "g.208994404T>G" "" "{PMID:Berry 2020:33243271}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.208129680T>G" "" "likely pathogenic (dominant)" "" "0000953742" "11" "70" "2" "208994400" "208994400" "subst" "0" "00006" "CRYGC_000042" "g.208994400A>G" "" "{PMID:Astiazaran 2018:30450742}" "" "" "" "Germline" "yes" "" "0" "" "" "g.208129676A>G" "" "likely pathogenic (dominant)" "" "0000953743" "11" "70" "2" "208994400" "208994400" "subst" "0" "00006" "CRYGC_000042" "g.208994400A>G" "" "{PMID:Astiazaran 2018:30450742}" "" "" "" "Germline" "yes" "" "0" "" "" "g.208129676A>G" "" "likely pathogenic (dominant)" "" "0000953755" "0" "70" "2" "208994400" "208994400" "subst" "0" "00006" "CRYGC_000042" "g.208994400A>G" "" "{PMID:Astiazaran 2018:30450742}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.208129676A>G" "" "likely pathogenic (dominant)" "" "0000953756" "21" "70" "2" "208994400" "208994400" "subst" "0" "00006" "CRYGC_000042" "g.208994400A>G" "" "{PMID:Astiazaran 2018:30450742}" "" "" "" "Germline" "yes" "" "0" "" "" "g.208129676A>G" "" "likely pathogenic (dominant)" "" "0000953757" "21" "70" "2" "208994400" "208994400" "subst" "0" "00006" "CRYGC_000042" "g.208994400A>G" "" "{PMID:Astiazaran 2018:30450742}" "" "" "" "Germline" "yes" "" "0" "" "" "g.208129676A>G" "" "likely pathogenic (dominant)" "" "0000953758" "21" "70" "2" "208994400" "208994400" "subst" "0" "00006" "CRYGC_000042" "g.208994400A>G" "" "{PMID:Astiazaran 2018:30450742}" "" "" "" "Germline" "yes" "" "0" "" "" "g.208129676A>G" "" "likely pathogenic (dominant)" "" "0000953759" "21" "70" "2" "208994400" "208994400" "subst" "0" "00006" "CRYGC_000042" "g.208994400A>G" "" "{PMID:Astiazaran 2018:30450742}" "" "" "" "Germline" "yes" "" "0" "" "" "g.208129676A>G" "" "likely pathogenic (dominant)" "" "0000953762" "1" "90" "2" "208994307" "208994307" "subst" "0" "00006" "CRYGC_000030" "g.208994307C>G" "" "{PMID:Zhang 2019:31302914}" "" "" "" "Germline" "" "" "0" "" "" "g.208129583C>G" "" "pathogenic (dominant)" "" "0000953763" "0" "90" "2" "208994283" "208994283" "subst" "0" "00006" "CRYGC_000011" "g.208994283A>G" "" "{PMID:Fu 2021:33422942}" "" "" "functional analysis shows aggregate formation at physiological temperature, altered thermal unfolding, less thermal stability with increasing concentrations and a concentration-dependent rescue by αA-crystallin" "In vitro (cloned)" "" "" "0" "" "" "g.208129559A>G" "" "NA" "" "0000953764" "0" "90" "2" "208994281" "208994281" "subst" "0" "00006" "CRYGC_000031" "g.208994281A>C" "" "{PMID:Fu 2021:33422942}" "" "" "functional analysis shows aggregate formation at physiological temperature, altered thermal unfolding, less thermal stability with increasing concentrations and a concentration-dependent rescue by αA-crystallin" "In vitro (cloned)" "" "" "0" "" "" "g.208129557A>C" "" "NA" "" "0000953766" "1" "90" "2" "208994281" "208994281" "subst" "0" "00006" "CRYGC_000031" "g.208994281A>C" "" "{PMID:Zhong 2017:28298635}" "" "" "" "Germline" "yes" "" "0" "" "" "g.208129557A>C" "" "pathogenic (dominant)" "" "0000953767" "1" "90" "2" "208994224" "208994224" "del" "0" "00006" "CRYGC_000039" "g.208994224del" "" "{PMID:Zhong 2017:28298635}" "" "193delG" "" "Germline" "yes" "" "0" "" "" "g.208129500del" "" "pathogenic (dominant)" "" "0000953768" "1" "90" "2" "208993033" "208993033" "del" "0" "00006" "CRYGC_000035" "g.208993033del" "" "{PMID:Zhong 2017:28298635}" "" "423delG" "" "Germline" "yes" "" "0" "" "" "g.208128309del" "" "pathogenic (dominant)" "" "0000953769" "1" "90" "2" "208993033" "208993033" "dup" "0" "00006" "CRYGC_000036" "g.208993033dup" "" "{PMID:Zhong 2017:28298635}" "" "423dupG" "" "Germline" "yes" "" "0" "" "" "g.208128309dup" "" "pathogenic (dominant)" "" "0000953770" "1" "90" "2" "208993035" "208993035" "subst" "0" "00006" "CRYGC_000037" "g.208993035G>T" "" "{PMID:Zhong 2017:28298635}" "" "" "" "Germline" "yes" "" "0" "" "" "g.208128311G>T" "" "pathogenic (dominant)" "" "0000953771" "1" "90" "2" "208993020" "208993020" "subst" "0" "00006" "CRYGC_000032" "g.208993020G>C" "" "{PMID:Zhong 2017:28298635}" "" "" "" "Germline" "yes" "" "0" "" "" "g.208128296G>C" "" "pathogenic (dominant)" "" "0000953772" "1" "90" "2" "208992955" "208992955" "subst" "0" "00006" "CRYGC_000009" "g.208992955G>A" "" "{PMID:Zhong 2017:28298635}" "" "" "" "Germline" "yes" "" "0" "" "" "g.208128231G>A" "" "pathogenic (dominant)" "" "0000953773" "1" "90" "2" "208992947" "208992947" "subst" "0" "00006" "CRYGC_000034" "g.208992947T>A" "" "{PMID:Zhong 2017:28298635}" "" "" "" "Germline" "yes" "" "0" "" "" "g.208128223T>A" "" "pathogenic (dominant)" "" "0000953776" "1" "90" "2" "208993020" "208993020" "subst" "0" "00006" "CRYGC_000032" "g.208993020G>C" "" "{PMID:Sun 2017:29386872}" "" "" "" "Germline" "yes" "" "0" "" "" "g.208128296G>C" "" "pathogenic (dominant)" "" "0000953777" "1" "90" "2" "208994287" "208994287" "del" "0" "00006" "CRYGC_000033" "g.208994287del" "" "{PMID:Sun 2017:29386872}" "" "130delA" "" "Germline" "yes" "" "0" "" "" "g.208129563del" "" "pathogenic (dominant)" "" "0000953779" "0" "90" "2" "208994274" "208994274" "subst" "0.0169857" "00006" "CRYGC_000004" "g.208994274C>T" "" "{PMID:Sun 2017:29386872}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.208129550C>T" "" "pathogenic (dominant)" "" "0000954014" "0" "70" "2" "208994244" "208994244" "subst" "0" "00006" "CRYGC_000041" "g.208994244A>G" "" "{PMID:Moon 2021:35052368}" "" "" "" "Germline" "" "" "0" "" "" "g.208129520A>G" "" "likely pathogenic" "" "0000954095" "21" "70" "2" "208994184" "208994184" "subst" "0" "00006" "CRYGC_000038" "g.208994184G>A" "" "{PMID:Li 2018:29914532}" "" "" "" "Germline" "" "" "0" "" "" "g.208129460G>A" "" "likely pathogenic (dominant)" "" "0000954773" "21" "90" "2" "208992955" "208992955" "subst" "0" "00006" "CRYGC_000009" "g.208992955G>A" "" "{PMID:Fan 2020:32883240}" "" "" "" "Germline" "yes" "" "0" "" "" "g.208128231G>A" "" "pathogenic (dominant)" "" "0000954779" "21" "90" "2" "208994228" "208994228" "del" "0" "00006" "CRYGC_000047" "g.208994228del" "" "{PMID:Fan 2020:32883240}" "" "" "" "Germline" "yes" "" "0" "" "" "g.208129504del" "" "pathogenic (dominant)" "" "0000954816" "11" "90" "2" "208993123" "208993124" "delins" "0" "00006" "CRYGC_000046" "g.208993123_208993124delinsA" "" "{PMID:Ma 2016:26694549}" "" "" "" "Germline" "" "" "0" "" "" "g.208128399_208128400delinsA" "" "pathogenic (dominant)" "" "0000954843" "11" "90" "2" "208993070" "208993070" "subst" "0" "00006" "CRYGC_000043" "g.208993070C>A" "" "{PMID:Kandaswamy 2020:32811259}" "" "" "" "Germline" "yes" "" "0" "" "" "g.208128346C>A" "" "pathogenic (dominant)" "" "0000954868" "1" "90" "2" "208993049" "208993049" "subst" "0" "00006" "CRYGC_000045" "g.208993049C>A" "" "{PMID:Patel 2017:27878435}" "" "" "" "Germline" "yes" "" "0" "" "" "g.208128325C>A" "" "pathogenic (dominant)" "" "0000954907" "1" "90" "2" "208994294" "208994298" "dup" "0" "00006" "CRYGC_000002" "g.208994294_208994298dup" "" "{PMID:Reis 2013:23508780}" "" "157_161dupGCGGC (p.(Gln55Valfs*50))" "" "Germline" "yes" "" "0" "" "" "g.208129570_208129574dup" "" "pathogenic (dominant)" "" "0000954912" "1" "90" "2" "208993035" "208993035" "subst" "0" "00006" "CRYGC_000044" "g.208993035G>C" "" "{PMID:Reis 2013:23508780}" "" "" "" "Germline" "yes" "" "0" "" "" "g.208128311G>C" "" "pathogenic (dominant)" "" "0000954948" "21" "90" "2" "208993020" "208993020" "subst" "0" "00006" "CRYGC_000032" "g.208993020G>C" "" "{PMID:Taylan Sekeroglu 2020:33510601}" "" "" "" "Germline" "yes" "" "0" "" "" "g.208128296G>C" "" "pathogenic (dominant)" "" "0000954981" "1" "70" "2" "208992982" "208992982" "subst" "0" "00006" "CRYGC_000006" "g.208992982C>T" "" "{PMID:Kessel 2021:34169787}" "" "" "ACMG PVS1strong,PM2, PS4sup" "Germline" "" "" "0" "" "" "g.208128258C>T" "VCV000066074.1" "likely pathogenic (dominant)" "" "0000955012" "0" "90" "2" "208993131" "208993132" "del" "0" "00006" "CRYGC_000050" "g.208993131_208993132del" "" "{PMID:Reichsteiner 2021:34014271}" "" "" "" "De novo" "" "" "0" "" "" "g.208128407_208128408del" "" "pathogenic (dominant)" "" "0000955057" "21" "90" "2" "208993064" "208993067" "dup" "0" "00006" "CRYGC_000048" "g.208993064_208993067dup" "" "{PMID:Zhou 2021:36246175}" "" "389_390insGCTG" "variant de novo in mother" "Germline" "yes" "" "0" "" "" "g.208128340_208128343dup" "" "pathogenic (dominant)" "" "0000955058" "0" "90" "2" "208993060" "208993060" "del" "0" "00006" "CRYGC_000049" "g.208993060del" "" "{PMID:Peng 2022:35719371}" "" "394delG" "ACMG PVS1, PS2, PM2" "De novo" "" "" "0" "" "" "g.208128336del" "" "pathogenic (dominant)" "ACMG" "0000957390" "0" "90" "2" "208993020" "208993020" "subst" "0" "00006" "CRYGC_000051" "g.208993020G>T" "" "{PMID:Liu 2023:37337769}" "" "" "" "De novo" "" "" "0" "" "" "g.208128296G>T" "" "pathogenic (dominant)" "" "0000957426" "21" "90" "2" "208994228" "208994228" "del" "0" "00006" "CRYGC_000047" "g.208994228del" "" "{PMID:Liu 2023:37337769}" "" "" "" "Germline" "yes" "" "0" "" "" "g.208129504del" "" "pathogenic (dominant)" "" "0000957427" "0" "90" "2" "208994228" "208994228" "del" "0" "00006" "CRYGC_000047" "g.208994228del" "" "{PMID:Liu 2023:37337769}" "" "" "" "Germline" "yes" "" "0" "" "" "g.208129504del" "" "pathogenic (dominant)" "" "0000957428" "21" "90" "2" "208994228" "208994228" "del" "0" "00006" "CRYGC_000047" "g.208994228del" "" "{PMID:Liu 2023:37337769}" "" "" "" "Germline" "yes" "" "0" "" "" "g.208129504del" "" "pathogenic (dominant)" "" "0000957499" "21" "90" "2" "208992955" "208992955" "subst" "0" "00006" "CRYGC_000009" "g.208992955G>A" "" "{PMID:Liu 2023:37337769}" "" "" "" "Germline" "yes" "rs587778872" "0" "" "" "g.208128231G>A" "rs587778872" "pathogenic (dominant)" "" "0000957500" "0" "90" "2" "208992955" "208992955" "subst" "0" "00006" "CRYGC_000009" "g.208992955G>A" "" "{PMID:Liu 2023:37337769}" "" "" "" "Germline" "yes" "rs587778872" "0" "" "" "g.208128231G>A" "rs587778872" "pathogenic (dominant)" "" "0000974875" "0" "50" "2" "208986504" "208986504" "subst" "4.06243E-6" "01804" "CRYGB_000030" "g.208986504G>C" "" "" "" "CRYGD(NM_006891.4):c.418C>G (p.(Arg140Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974876" "0" "30" "2" "208989179" "208989179" "subst" "9.65821E-5" "01804" "CRYGB_000031" "g.208989179C>G" "" "" "" "CRYGD(NM_006891.4):c.9+10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974877" "0" "70" "2" "208994354" "208994356" "del" "0" "01804" "CRYGB_000017" "g.208994354_208994356del" "" "" "" "CRYGC(NM_020989.3):c.61_63delACT (p.T21del), CRYGC(NM_020989.4):c.61_63del (p.(Thr21del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000992396" "0" "50" "2" "208986477" "208986477" "subst" "1.21894E-5" "01804" "CRYGB_000032" "g.208986477C>T" "" "" "" "CRYGD(NM_006891.3):c.445G>A (p.(Gly149Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992397" "0" "30" "2" "208988907" "208988907" "subst" "0.000451149" "01804" "CRYGD_000009" "g.208988907C>A" "" "" "" "CRYGD(NM_006891.3):c.181G>T (p.(Gly61Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992398" "0" "30" "2" "208993118" "208993118" "subst" "0" "01804" "CRYGB_000033" "g.208993118T>A" "" "" "" "CRYGC(NM_020989.3):c.334A>T (p.(Ile112Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992399" "0" "50" "2" "208994197" "208994197" "subst" "8.16887E-6" "01804" "CRYGB_000034" "g.208994197C>T" "" "" "" "CRYGC(NM_020989.3):c.220G>A (p.(Asp74Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013603" "0" "70" "2" "208994239" "208994239" "subst" "2.03095E-5" "02327" "CRYGB_000028" "g.208994239G>A" "" "" "" "CRYGC(NM_020989.4):c.178C>T (p.R60*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001032910" "0" "30" "2" "208986503" "208986503" "subst" "5.68727E-5" "01804" "CRYGB_000035" "g.208986503C>T" "" "" "" "CRYGD(NM_006891.4):c.419G>A (p.(Arg140Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032911" "0" "30" "2" "208988951" "208988951" "subst" "2.49194E-5" "01804" "CRYGB_000036" "g.208988951T>C" "" "" "" "CRYGD(NM_006891.4):c.137A>G (p.(Tyr46Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032912" "0" "30" "2" "208994322" "208994322" "subst" "5.68602E-5" "01804" "CRYGB_000037" "g.208994322C>T" "" "" "" "CRYGC(NM_020989.4):c.95G>A (p.(Arg32His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001058029" "21" "90" "2" "208994365" "208994365" "subst" "6.09167E-5" "00006" "CRYGC_000052" "g.208994365C>T" "" "{PMID:Ma 2025:40776922}" "" "" "" "Germline" "yes" "" "0" "" "" "g.208129641C>T" "" "pathogenic (dominant)" "" "0001058046" "0" "70" "2" "208993020" "208993020" "subst" "0" "00006" "CRYGC_000051" "g.208993020G>T" "" "{PMID:Guo 2025:40449652}" "" "" "" "Germline" "" "" "0" "" "" "g.208128296G>T" "" "likely pathogenic (dominant)" "" "0001058050" "0" "70" "2" "208993060" "208993060" "del" "0" "00006" "CRYGC_000049" "g.208993060del" "" "{PMID:Guo 2025:40449652}" "" "394delG" "" "Germline" "" "" "0" "" "" "g.208128336del" "" "likely pathogenic (dominant)" "" "0001058110" "0" "70" "2" "208993183" "208993183" "subst" "0" "00006" "CRYGC_000053" "g.208993183A>C" "" "{PMID:Guo 2025:40449652}" "" "" "" "Germline" "" "" "0" "" "" "g.208128459A>C" "" "likely pathogenic (dominant)" "" "0001058111" "0" "70" "2" "208993183" "208993183" "subst" "0" "00006" "CRYGC_000053" "g.208993183A>C" "" "{PMID:Guo 2025:40449652}" "" "" "" "Germline" "" "" "0" "" "" "g.208128459A>C" "" "likely pathogenic (dominant)" "" "0001058132" "0" "70" "2" "208992982" "208992982" "subst" "0" "00006" "CRYGC_000006" "g.208992982C>T" "" "{PMID:Guo 2025:40449652}" "" "" "" "Germline" "" "" "0" "" "" "g.208128258C>T" "" "likely pathogenic (dominant)" "" "0001058133" "0" "70" "2" "208992982" "208992982" "subst" "0" "00006" "CRYGC_000006" "g.208992982C>T" "" "{PMID:Guo 2025:40449652}" "" "" "" "Germline" "" "" "0" "" "" "g.208128258C>T" "" "likely pathogenic (dominant)" "" "0001058171" "0" "70" "2" "208992981" "208992981" "subst" "0" "00006" "CRYGC_000012" "g.208992981C>T" "" "{PMID:Guo 2025:40449652}" "" "" "" "Germline" "" "" "0" "" "" "g.208128257C>T" "" "likely pathogenic (dominant)" "" ## 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 CRYGC ## Count = 146 "{{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}}" "0000061001" "00005720" "90" "13" "0" "13" "0" "c.13A>C" "r.(?)" "p.(Thr5Pro)" "2" "0000061002" "00005720" "90" "13" "0" "13" "0" "c.13A>C" "r.(?)" "p.(Thr5Pro)" "2" "0000061003" "00005720" "90" "13" "0" "13" "0" "c.13A>C" "r.(?)" "p.(Thr5Pro)" "2" "0000061004" "00005720" "90" "13" "0" "13" "0" "c.13A>C" "r.(?)" "p.Thr5Pro" "2" "0000061005" "00005720" "90" "13" "0" "13" "0" "c.13A>C" "r.(?)" "p.(Thr5Pro)" "2" "0000061006" "00005720" "90" "119" "0" "123" "0" "c.119_123dup" "r.(?)" "p.(Cys42Alafs*63)" "2" "0000061007" "00005720" "90" "502" "0" "502" "0" "c.502C>T" "r.(?)" "p.(Arg168Trp)" "3" "0000061008" "00005720" "90" "502" "0" "502" "0" "c.502C>T" "r.(?)" "p.(Arg168Trp)" "3" "0000061009" "00005720" "90" "502" "0" "502" "0" "c.502C>T" "r.(?)" "p.(Arg168Trp)" "3" "0000061010" "00005720" "50" "143" "0" "143" "0" "c.143G>A" "r.(?)" "p.(Arg48His)" "2" "0000061011" "00005720" "50" "143" "0" "143" "0" "c.143G>A" "r.(?)" "p.(Arg48His)" "2" "0000061012" "00005720" "10" "33" "0" "33" "0" "c.33C>T" "r.(?)" "p.(=)" "2" "0000061013" "00005720" "90" "327" "0" "327" "0" "c.327C>A" "r.(?)" "p.(Cys109*)" "3" "0000061014" "00005720" "90" "470" "0" "470" "0" "c.470G>A" "r.(?)" "p.(Trp157*)" "3" "0000061015" "00005720" "10" "357" "0" "357" "0" "c.357C>T" "r.(?)" "p.(=)" "3" "0000061016" "00005720" "90" "385" "0" "385" "0" "c.385G>T" "r.(?)" "p.(Gly129Cys)" "3" "0000061017" "00005720" "90" "497" "0" "497" "0" "c.497C>T" "r.(?)" "p.(Ser166Phe)" "3" "0000096838" "00005720" "70" "134" "0" "134" "0" "c.134T>C" "r.(?)" "p.(Leu45Pro)" "2" "0000096860" "00005720" "90" "402" "0" "402" "0" "c.402C>G" "r.(?)" "p.(Tyr134*)" "3" "0000116898" "00005720" "90" "124" "0" "124" "0" "c.124del" "r.(?)" "p.(Cys42Alafs*61)" "2" "0000116899" "00005720" "90" "124" "0" "124" "0" "c.124del" "r.(?)" "p.(Cys42Alafs*61)" "2" "0000116998" "00005720" "90" "471" "0" "471" "0" "c.471G>A" "r.(?)" "p.(Trp157*)" "3" "0000117002" "00005720" "90" "471" "0" "471" "0" "c.471G>A" "r.(?)" "p.(Trp157*)" "3" "0000117003" "00005720" "90" "471" "0" "471" "0" "c.471G>A" "r.(?)" "p.(Trp157*)" "3" "0000117004" "00005720" "90" "471" "0" "471" "0" "c.471G>A" "r.(?)" "p.(Trp157*)" "3" "0000117005" "00005720" "90" "471" "0" "471" "0" "c.471G>A" "r.(?)" "p.(Trp157*)" "3" "0000117007" "00005720" "90" "471" "0" "471" "0" "c.471G>A" "r.(?)" "p.(Trp157*)" "3" "0000166299" "00005720" "70" "10" "-1" "10" "-1" "c.10-1G>A" "r.spl" "p.?" "1i" "0000248992" "00005720" "10" "7067" "0" "7067" "0" "c.*6542T>C" "r.(=)" "p.(=)" "" "0000248994" "00005720" "10" "4415" "0" "4415" "0" "c.*3890T>C" "r.(=)" "p.(=)" "" "0000267144" "00005720" "10" "6815" "0" "6815" "0" "c.*6290A>G" "r.(=)" "p.(=)" "" "0000274461" "00005720" "30" "-13050" "0" "-13050" "0" "c.-13050C>T" "r.(?)" "p.(=)" "" "0000274462" "00005720" "10" "120" "0" "120" "0" "c.120C>T" "r.(?)" "p.(Ser40=)" "" "0000274463" "00005720" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000274464" "00005720" "30" "317" "0" "317" "0" "c.317G>A" "r.(?)" "p.(Ser106Asn)" "" "0000274465" "00005720" "90" "470" "0" "470" "0" "c.470G>A" "r.(?)" "p.(Trp157Ter)" "" "0000274466" "00005720" "50" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Gly158Glu)" "" "0000274467" "00005720" "30" "4604" "0" "4604" "0" "c.*4079C>T" "r.(=)" "p.(=)" "" "0000274468" "00005720" "50" "6906" "0" "6906" "0" "c.*6381G>A" "r.(=)" "p.(=)" "" "0000274469" "00005720" "30" "4427" "0" "4427" "0" "c.*3902C>T" "r.(=)" "p.(=)" "" "0000328063" "00005720" "30" "152" "0" "152" "0" "c.152A>G" "r.(?)" "p.(Tyr51Cys)" "" "0000328064" "00005720" "50" "-16100" "0" "-16100" "0" "c.-16100T>C" "r.(?)" "p.(=)" "" "0000339633" "00005720" "10" "4415" "0" "4415" "0" "c.*3890T>C" "r.(=)" "p.(=)" "" "0000344889" "00005720" "90" "154" "0" "163" "0" "c.154_163del" "r.(?)" "p.(Gln52AsnfsTer48)" "" "0000348768" "00005720" "50" "497" "0" "497" "0" "c.497C>G" "r.(?)" "p.(Ser166Cys)" "" "0000350162" "00005720" "30" "4552" "0" "4552" "0" "c.*4027A>G" "r.(=)" "p.(=)" "" "0000514015" "00005720" "30" "6965" "0" "6965" "0" "c.*6440G>A" "r.(=)" "p.(=)" "" "0000514016" "00005720" "30" "6938" "0" "6938" "0" "c.*6413G>A" "r.(=)" "p.(=)" "" "0000514017" "00005720" "30" "4623" "0" "4623" "0" "c.*4098A>G" "r.(=)" "p.(=)" "" "0000514018" "00005720" "10" "4532" "0" "4532" "0" "c.*4007C>G" "r.(=)" "p.(=)" "" "0000514021" "00005720" "30" "4494" "0" "4494" "0" "c.*3969A>G" "r.(=)" "p.(=)" "" "0000514022" "00005720" "30" "4367" "0" "4367" "0" "c.*3842C>G" "r.(=)" "p.(=)" "" "0000514024" "00005720" "30" "176" "0" "176" "0" "c.176G>A" "r.(?)" "p.(Arg59Gln)" "" "0000514025" "00005720" "30" "164" "0" "164" "0" "c.164A>G" "r.(?)" "p.(Gln55Arg)" "" "0000514026" "00005720" "70" "61" "0" "63" "0" "c.61_63del" "r.(?)" "p.(Thr21del)" "" "0000514027" "00005720" "30" "-15982" "0" "-15982" "0" "c.-15982G>A" "r.(?)" "p.(=)" "" "0000514028" "00005720" "30" "-16014" "0" "-16014" "0" "c.-16014G>A" "r.(?)" "p.(=)" "" "0000514029" "00005720" "10" "-16042" "0" "-16042" "0" "c.-16042T>C" "r.(?)" "p.(=)" "" "0000514030" "00005720" "50" "-16053" "0" "-16053" "0" "c.-16053G>A" "r.(?)" "p.(=)" "" "0000607399" "00005720" "50" "-16055" "0" "-16055" "0" "c.-16055G>A" "r.(?)" "p.(=)" "" "0000650407" "00005720" "50" "502" "0" "502" "0" "c.502C>T" "r.(?)" "p.(Arg168Trp)" "" "0000665790" "00005720" "90" "470" "0" "470" "0" "c.470G>A" "r.(?)" "p.(Trp157*)" "" "0000676449" "00005720" "30" "-12847" "0" "-12847" "0" "c.-12847G>A" "r.(?)" "p.(=)" "" "0000688605" "00005720" "50" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Arg142Gln)" "" "0000688606" "00005720" "30" "-16003" "0" "-16003" "0" "c.-16003C>T" "r.(?)" "p.(=)" "" "0000718397" "00005720" "50" "230" "0" "230" "0" "c.230G>A" "r.(?)" "p.(Arg77His)" "" "0000718398" "00005720" "50" "-31118" "0" "-31118" "0" "c.-31118G>T" "r.(?)" "p.(=)" "" "0000736863" "00005720" "70" "61" "0" "63" "0" "c.61_63del" "r.(?)" "p.(Thr21del)" "" "0000765955" "00005720" "70" "110" "0" "110" "0" "c.110G>A" "r.(?)" "p.(Arg37Gln)" "" "0000800284" "00005720" "30" "402" "0" "402" "0" "c.402C>T" "r.(?)" "p.(Tyr134=)" "" "0000800285" "00005720" "70" "385" "0" "385" "0" "c.385G>T" "r.(?)" "p.(Gly129Cys)" "" "0000858248" "00005720" "50" "-12976" "0" "-12976" "0" "c.-12976T>G" "r.(?)" "p.(=)" "" "0000884695" "00005720" "30" "6906" "0" "6906" "0" "c.*6381G>A" "r.(=)" "p.(=)" "" "0000884696" "00005720" "50" "178" "0" "178" "0" "c.178C>T" "r.(?)" "p.(Arg60*)" "" "0000884697" "00005720" "70" "61" "0" "63" "0" "c.61_63del" "r.(?)" "p.(Thr21del)" "" "0000921498" "00005720" "70" "83" "0" "83" "0" "c.83C>T" "r.(?)" "p.(Pro28Leu)" "" "0000921545" "00005720" "90" "280" "0" "280" "0" "c.280G>A" "r.(?)" "p.(Glu94Lys)" "" "0000921549" "00005720" "90" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Gln113Ter)" "" "0000921791" "00005720" "70" "425" "0" "432" "0" "c.425_432dup" "r.(?)" "p.(Leu145GlyfsTer5)" "" "0000921792" "00005720" "70" "438" "0" "438" "0" "c.438del" "r.(?)" "p.(Arg147GlyfsTer32)" "" "0000921842" "00005720" "70" "164" "0" "164" "0" "c.164A>G" "r.(?)" "p.(Gln55Arg)" "2" "0000921963" "00005720" "90" "10" "-1" "10" "-1" "c.10-1G>A" "r.spl" "p.?" "1i" "0000923565" "00005720" "50" "137" "0" "137" "0" "c.137A>G" "r.(?)" "p.(Tyr46Cys)" "" "0000953685" "00005720" "90" "391" "0" "391" "0" "c.391T>C" "r.(?)" "p.(Trp131Arg)" "" "0000953690" "00005720" "90" "179" "0" "179" "0" "c.179del" "r.(?)" "p.(Arg60GlnfsTer43)" "" "0000953695" "00005720" "70" "13" "0" "13" "0" "c.13A>C" "r.(?)" "p.(Thr5Pro)" "" "0000953742" "00005720" "70" "17" "0" "17" "0" "c.17T>C" "r.(?)" "p.(Phe6Ser)" "" "0000953743" "00005720" "70" "17" "0" "17" "0" "c.17T>C" "r.(?)" "p.(Phe6Ser)" "" "0000953755" "00005720" "70" "17" "0" "17" "0" "c.17T>C" "r.(?)" "p.(Phe6Ser)" "" "0000953756" "00005720" "70" "17" "0" "17" "0" "c.17T>C" "r.(?)" "p.(Phe6Ser)" "" "0000953757" "00005720" "70" "17" "0" "17" "0" "c.17T>C" "r.(?)" "p.(Phe6Ser)" "" "0000953758" "00005720" "70" "17" "0" "17" "0" "c.17T>C" "r.(?)" "p.(Phe6Ser)" "" "0000953759" "00005720" "70" "17" "0" "17" "0" "c.17T>C" "r.(?)" "p.(Phe6Ser)" "" "0000953762" "00005720" "90" "110" "0" "110" "0" "c.110G>C" "r.(?)" "p.(Arg37Pro)" "" "0000953763" "00005720" "90" "134" "0" "134" "0" "c.134T>C" "-" "p.Leu45Pro" "" "0000953764" "00005720" "90" "136" "0" "136" "0" "c.136T>G" "-" "p.Tyr46Asp" "" "0000953766" "00005720" "90" "136" "0" "136" "0" "c.136T>G" "r.(?)" "p.(Tyr46Asp)" "" "0000953767" "00005720" "90" "193" "0" "193" "0" "c.193del" "r.(?)" "p.(Asp65ThrfsTer38)" "" "0000953768" "00005720" "90" "423" "0" "423" "0" "c.423del" "r.(?)" "p.(Arg142GlyfsTer5)" "" "0000953769" "00005720" "90" "423" "0" "423" "0" "c.423dup" "r.(?)" "p.(Arg142AlafsTer22)" "" "0000953770" "00005720" "90" "417" "0" "417" "0" "c.417C>A" "r.(?)" "p.(Tyr139Ter)" "" "0000953771" "00005720" "90" "432" "0" "432" "0" "c.432C>G" "r.(?)" "p.(Tyr144Ter)" "" "0000953772" "00005720" "90" "497" "0" "497" "0" "c.497C>T" "r.(?)" "p.(Ser166Phe)" "" "0000953773" "00005720" "90" "505" "0" "505" "0" "c.505A>T" "r.(?)" "p.(Arg169Ter)" "" "0000953776" "00005720" "90" "432" "0" "432" "0" "c.432C>G" "r.(?)" "p.(Tyr144Ter)" "" "0000953777" "00005720" "90" "130" "0" "130" "0" "c.130del" "r.(?)" "p.(Met44CysfsTer59)" "" "0000953779" "00005720" "90" "143" "0" "143" "0" "c.143G>A" "r.(?)" "p.(Arg48His)" "" "0000954014" "00005720" "70" "173" "0" "173" "0" "c.173T>C" "r.(?)" "p.(Leu58Pro)" "" "0000954095" "00005720" "70" "233" "0" "233" "0" "c.233C>T" "r.(?)" "p.(Ser78Phe)" "" "0000954773" "00005720" "90" "497" "0" "497" "0" "c.497C>T" "r.(?)" "p.(Ser166Phe)" "" "0000954779" "00005720" "90" "192" "0" "192" "0" "c.192del" "r.(?)" "p.(Asp65ThrfsTer38)" "" "0000954816" "00005720" "90" "328" "0" "329" "0" "c.328_329delinsT" "r.(?)" "p.(Pro110SerfsTer37)" "" "0000954843" "00005720" "90" "382" "0" "382" "0" "c.382G>T" "r.(?)" "p.(Glu128*)" "" "0000954868" "00005720" "90" "403" "0" "403" "0" "c.403G>T" "r.(?)" "p.(Glu135Ter)" "" "0000954907" "00005720" "90" "119" "0" "123" "0" "c.119_123dup" "r.(?)" "p.(Cys42AlafsTer63)" "" "0000954912" "00005720" "90" "417" "0" "417" "0" "c.417C>G" "r.(?)" "p.(Tyr139Ter)" "" "0000954948" "00005720" "90" "432" "0" "432" "0" "c.432C>G" "r.(?)" "p.(Tyr144*)" "" "0000954981" "00005720" "70" "470" "0" "470" "0" "c.470G>A" "r.(?)" "p.(Trp157Ter)" "" "0000955012" "00005720" "90" "320" "0" "321" "0" "c.320_321del" "r.(?)" "p.(Glu107GlyfsTer56)" "" "0000955057" "00005720" "90" "386" "0" "389" "0" "c.386_389dup" "r.(?)" "p.(Cys130Trpfs*35)" "" "0000955058" "00005720" "90" "394" "0" "394" "0" "c.394del" "r.(?)" "p.(Val132SerfsTer15)" "" "0000957390" "00005720" "90" "432" "0" "432" "0" "c.432C>A" "r.(?)" "p.(Tyr144Ter)" "3" "0000957426" "00005720" "90" "192" "0" "192" "0" "c.192del" "r.(?)" "p.(Asp65ThrfsTer38)" "2" "0000957427" "00005720" "90" "192" "0" "192" "0" "c.192del" "r.(?)" "p.(Asp65ThrfsTer38)" "2" "0000957428" "00005720" "90" "192" "0" "192" "0" "c.192del" "r.(?)" "p.(Asp65ThrfsTer38)" "2" "0000957499" "00005720" "90" "497" "0" "497" "0" "c.497C>T" "r.(?)" "p.(Ser166Phe)" "3" "0000957500" "00005720" "90" "497" "0" "497" "0" "c.497C>T" "r.(?)" "p.(Ser166Phe)" "3" "0000974875" "00005720" "50" "6948" "0" "6948" "0" "c.*6423C>G" "r.(=)" "p.(=)" "" "0000974876" "00005720" "30" "4273" "0" "4273" "0" "c.*3748G>C" "r.(=)" "p.(=)" "" "0000974877" "00005720" "70" "61" "0" "63" "0" "c.61_63del" "r.(?)" "p.(Thr21del)" "" "0000992396" "00005720" "50" "6975" "0" "6975" "0" "c.*6450G>A" "r.(=)" "p.(=)" "" "0000992397" "00005720" "30" "4545" "0" "4545" "0" "c.*4020G>T" "r.(=)" "p.(=)" "" "0000992398" "00005720" "30" "334" "0" "334" "0" "c.334A>T" "r.(?)" "p.(Ile112Phe)" "" "0000992399" "00005720" "50" "220" "0" "220" "0" "c.220G>A" "r.(?)" "p.(Asp74Asn)" "" "0001013603" "00005720" "70" "178" "0" "178" "0" "c.178C>T" "r.(?)" "p.(Arg60*)" "" "0001032910" "00005720" "30" "6949" "0" "6949" "0" "c.*6424G>A" "r.(=)" "p.(=)" "" "0001032911" "00005720" "30" "4501" "0" "4501" "0" "c.*3976A>G" "r.(=)" "p.(=)" "" "0001032912" "00005720" "30" "95" "0" "95" "0" "c.95G>A" "r.(?)" "p.(Arg32His)" "" "0001058029" "00005720" "90" "52" "0" "52" "0" "c.52G>A" "r.(?)" "p.(Glu18Lys)" "" "0001058046" "00005720" "70" "432" "0" "432" "0" "c.432C>A" "r.(?)" "p.(Tyr144Ter)" "" "0001058050" "00005720" "70" "394" "0" "394" "0" "c.394del" "r.(?)" "p.(Val132SerfsTer15)" "" "0001058110" "00005720" "70" "269" "0" "269" "0" "c.269T>G" "r.(?)" "p.(Leu90Arg)" "" "0001058111" "00005720" "70" "269" "0" "269" "0" "c.269T>G" "r.(?)" "p.(Leu90Arg)" "" "0001058132" "00005720" "70" "470" "0" "470" "0" "c.470G>A" "r.(?)" "p.(Trp157Ter)" "" "0001058133" "00005720" "70" "470" "0" "470" "0" "c.470G>A" "r.(?)" "p.(Trp157Ter)" "" "0001058171" "00005720" "70" "471" "0" "471" "0" "c.471G>A" "r.(?)" "p.(Trp157Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 89 "{{screeningid}}" "{{variantid}}" "0000013577" "0000061004" "0000013578" "0000061005" "0000033926" "0000061001" "0000033927" "0000061006" "0000033928" "0000061007" "0000033929" "0000061010" "0000033990" "0000061011" "0000034037" "0000061002" "0000034038" "0000061003" "0000034039" "0000061012" "0000034040" "0000061008" "0000034041" "0000061013" "0000034042" "0000061014" "0000034057" "0000061015" "0000034062" "0000061009" "0000034087" "0000061016" "0000034090" "0000061017" "0000065173" "0000096860" "0000065182" "0000096838" "0000073276" "0000116898" "0000073277" "0000116899" "0000073344" "0000116998" "0000073345" "0000117002" "0000073347" "0000117003" "0000073348" "0000117004" "0000073349" "0000117005" "0000073351" "0000117007" "0000103191" "0000166299" "0000293718" "0000650407" "0000302501" "0000665790" "0000337233" "0000736863" "0000365005" "0000765955" "0000435489" "0000921498" "0000435545" "0000921545" "0000435549" "0000921549" "0000435630" "0000921791" "0000435631" "0000921792" "0000435669" "0000921842" "0000435769" "0000921963" "0000445595" "0000953685" "0000445600" "0000953690" "0000445605" "0000953695" "0000445608" "0000953742" "0000445609" "0000953743" "0000445621" "0000953755" "0000445622" "0000953756" "0000445623" "0000953757" "0000445624" "0000953758" "0000445625" "0000953759" "0000445628" "0000953762" "0000445630" "0000953766" "0000445631" "0000953767" "0000445632" "0000953768" "0000445633" "0000953769" "0000445634" "0000953770" "0000445635" "0000953771" "0000445636" "0000953772" "0000445637" "0000953773" "0000445640" "0000953776" "0000445641" "0000953777" "0000445643" "0000953779" "0000445829" "0000954014" "0000445898" "0000954095" "0000446430" "0000954773" "0000446436" "0000954779" "0000446474" "0000954816" "0000446499" "0000954843" "0000446524" "0000954868" "0000446564" "0000954907" "0000446573" "0000954912" "0000446597" "0000954948" "0000446628" "0000954981" "0000446653" "0000955012" "0000446698" "0000955057" "0000446699" "0000955058" "0000448010" "0000957390" "0000448046" "0000957426" "0000448047" "0000957427" "0000448048" "0000957428" "0000448119" "0000957499" "0000448120" "0000957500" "0000469948" "0001058029" "0000469965" "0001058046" "0000469969" "0001058050" "0000470029" "0001058110" "0000470030" "0001058111" "0000470051" "0001058132" "0000470052" "0001058133" "0000470090" "0001058171"