### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CRYAB) # 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}}" "CRYAB" "crystallin, alpha B" "11" "q22.3-q23.1" "no" "NG_009824.3" "UD_132118956891" "" "https://www.LOVD.nl/CRYAB" "Original source the Congenital Cataract Mutation Database " "1" "2389" "1410" "123590" "1" "1" "1" "1" "This database is one of the gene variant databases from the:.\r\nThis database is one of the ”Eye disease” gene variant databases." "" "g" "https://databases.lovd.nl/shared/refseq/CRYAB_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2007-06-21 00:00:00" "00006" "2019-01-20 14:44:10" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00005709" "CRYAB" "crystallin, alpha B" "001" "NM_001885.1" "" "NP_001876.1" "" "" "" "-25" "666" "528" "111782473" "111779350" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 19 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00199" "CMT2" "Charcot-Marie-Tooth disease, type 2 (CMT-2)" "" "" "" "" "" "00006" "2013-09-13 14:35:15" "00006" "2021-12-11 13:56:28" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "00352" "CMD" "cardiomyopathy, dilated (CMD)" "" "" "" "" "" "00006" "2014-03-13 16:16:15" "00006" "2015-03-06 17:18:25" "02494" "CTRCT2;CCL" "cataract, type 2 (CTRCT-2, Coppock-like (CCL))" "AD" "604307" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02797" "MFM2" "myopathy, myofibrillar, type 2 (MFM-2)" "AD" "608810" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03424" "CTRCT16;CTPP2" "cataract, type 16 (CTRCT-16, cataract, posterior polar, type 2 (CTPP-2))" "AD;AR" "613763" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03848" "CMD1II" "cardiomyopathy, dilated, type 1II (CMD-1II)" "AD" "615184" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43" "04173" "LVNC" "ventricular noncompaction, left (LVNC)" "" "" "" "" "" "00006" "2015-01-20 15:35:56" "00006" "2015-10-12 17:03:37" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04287" "-" "myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related" "AR" "613869" "" "" "" "00006" "2015-06-19 22:22:25" "00006" "2021-12-10 21:51:32" "05098" "RCM" "cardiomyopathy, restrictive (RCM)" "" "" "" "" "" "00006" "2015-10-31 13:09:49" "00006" "2018-12-27 11:15:08" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "05165" "CCTRCT" "cataract, congenital (CCTRCT)" "" "" "" "" "" "00006" "2016-05-15 20:37:47" "" "" "05299" "MFM" "myopathy, myofibrillar (MFM)" "" "" "" "" "" "00006" "2017-06-30 15:34:57" "" "" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "CRYAB" "02797" "CRYAB" "03424" "CRYAB" "03848" "CRYAB" "04287" ## Individuals ## Do not remove or alter this header ## ## Count = 56 "{{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}}" "00072253" "" "" "" "6" "" "01604" "{PMID:Xia 2014:25195561}, {DOI:Xia 2016:10.1186/1471-2415-14-108}" "Family, 6-affected family members in a 5-generation Chinese family, II3" "F" "" "China" "" "0" "" "" "Chinese" "" "00072254" "" "" "00072253" "1" "" "01604" "{PMID:Xia 2014:25195561}, {DOI:Xia 2016:10.1186/1471-2415-14-108}" "Family, 6-affected family members in a 5-generation Chinese family, II4" "M" "" "China" ">17y" "0" "" "" "Chinese" "" "00072255" "" "" "00072253" "1" "" "01604" "{PMID:Xia 2014:25195561}, {DOI:Xia 2016:10.1186/1471-2415-14-108}" "Family, 6-affected family members in a 5-generation Chinese family, III1" "M" "" "China" ">20y" "0" "" "" "Chinese" "" "00072256" "" "" "00072253" "1" "" "01604" "{PMID:Xia 2014:25195561}, {DOI:Xia 2016:10.1186/1471-2415-14-108}" "Family, 6-affected family members in a 5-generation Chinese family, III4" "F" "" "China" ">19y" "0" "" "" "Chinese" "" "00072257" "" "" "00072253" "1" "" "01604" "{PMID:Xia 2014:25195561}, {DOI:Xia 2016:10.1186/1471-2415-14-108}" "Family, 6-affected family members in a 5-generation Chinese family, IV2" "M" "" "China" ">11y" "0" "" "" "Chinese" "" "00072258" "" "" "00072253" "1" "" "01604" "{PMID:Xia 2014:25195561}, {DOI:Xia 2016:10.1186/1471-2415-14-108}" "Family, 6-affected family members in a 5-generation Chinese family, IV5" "F" "" "China" ">08y" "0" "" "" "Chinese" "" "00072260" "" "" "" "5" "" "01604" "{PMID:Safieh 2009:19461931}, {PMID:Khan 2015:26622071}" "Family, mother is affected, father is carrier and 4-affected siblings, I-2" "F" "" "Saudi Arabia" ">35y" "0" "" "Surgery" "Saudi" "FamPatI2" "00072262" "" "" "00072260" "1" "" "01604" "{PMID:Safieh 2009:19461931}, {PMID:Khan 2015:26622071}" "Family, mother is affected, father is carrier and 4-affected siblings, II-1" "F" "" "Saudi Arabia" ">16y" "0" "" "Surgery" "Saudi" "FamPatII1" "00072263" "" "" "00072260" "1" "" "01604" "{PMID:Safieh 2009:19461931}, {PMID:Khan 2015:26622071}" "Family, mother is affected, father is carrier and 4-affected siblings, II-2" "F" "" "Saudi Arabia" ">14y" "0" "" "Surgery" "Saudi" "FamPatII2" "00072264" "" "" "00072260" "1" "" "01604" "{PMID:Safieh 2009:19461931}, {PMID:Khan 2015:26622071}" "Family, mother is affected, father is carrier and 4-affected siblings, II-7" "M" "" "Saudi Arabia" ">01y" "0" "" "" "Saudi" "FamPatII7" "00072265" "" "" "00072260" "1" "" "01604" "{PMID:Safieh 2009:19461931}, {PMID:Khan 2015:26622071}" "Family, mother is affected, father is carrier and 4-affected siblings, II-4" "F" "" "Saudi Arabia" "" "0" "" "" "Saudi" "FamPatII4" "00072268" "" "" "" "14" "" "01604" "{PMID:Jiaox 2015:26402864}, {DOI:Jiaox 2015:10.1371/journal.pone.0137973}" "Family, 14-affected family members" "" "yes" "Pakistan" "" "0" "" "" "Pakistani" "" "00072269" "" "" "" "6" "" "01604" "{PMID:Jiaox 2015:26402864}, {DOI:Jiaox 2015:10.1371/journal.pone.0137973}" "Family, 6-affected family members" "" "yes" "Pakistan" "" "0" "" "" "Pakistani" "" "00103211" "" "" "" "1" "" "01451" "" "" "M" "no" "Germany" "" "0" "" "" "" "" "00205368" "" "" "" "1" "" "00006" "{PMID:Inagaki 2006:16483541}" "" "" "" "Japan" "" "0" "" "" "" "" "00205369" "" "" "" "1" "" "00006" "{PMID:Hahner 2000:11013455}" "" "" "" "Germany" "" "0" "" "" "" "" "00205370" "" "" "" "1" "" "00006" "{PMID:Hahner 2000:11013455}" "" "" "" "Germany" "" "0" "" "" "" "" "00205371" "" "" "" "1" "" "00006" "{PMID:Hahner 2000:11013455}" "" "" "" "Germany" "" "0" "" "" "" "" "00205372" "" "" "" "1" "" "00006" "{PMID:Van Veen 2003:16877416}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00205373" "" "" "" "1" "" "00006" "{PMID:Van Veen 2003:16877416}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00205374" "" "" "" "1" "" "00006" "{PMID:Hahner 2000:11013455}" "" "" "" "Germany" "" "0" "" "" "" "" "00205375" "" "" "" "1" "" "00006" "{PMID:Hahner 2000:11013455}" "" "" "" "Germany" "" "0" "" "" "" "" "00205376" "" "" "" "1" "" "00006" "{PMID:Van Veen 2003:16877416}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00205377" "" "" "" "1" "" "00006" "{PMID:Van Veen 2003:16877416}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00205378" "" "" "" "1" "" "00464" "" "" "" "" "(United States)" "" "0" "" "" "" "" "00205379" "" "" "" "14" "" "00006" "{PMID:Liu 2006:16877416}" "4-generation family, 13 affecteds" "" "" "China" "" "0" "" "" "" "" "00205380" "" "" "" "11" "" "00006" "{PMID:Fardeau 1978:570292}" "3-generation family, 11 affecteds" "" "" "France" "" "0" "" "" "" "" "00205381" "" "" "" "12" "" "00006" "{PMID:Liu 2006:16505043}" "5-generation family, 12 affecteds" "" "" "China" "" "0" "" "" "" "" "00205382" "" "" "" "16" "" "00006" "{PMID:Berry 2001:11577372}, {OMIM123590:0002}" "5-generation family, 16 affecteds" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00205383" "" "" "" "1" "" "00006" "{PMID:Selcen 2003:14681890}" "" "M" "" "United States" ">53y" "0" "" "" "" "" "00205384" "" "" "" "1" "" "00006" "{PMID:Selcen 2003:14681890}" "" "M" "" "United States" "58y" "0" "" "" "" "" "00205385" "" "" "" "5" "" "00006" "{PMID:Inagaki 2006:16483541}" "2 siblings (56y, 66y) CMD, sudden cardiac death 2 other siblings (60y 72y)" "F" "" "Japan" ">71y" "0" "" "" "" "" "00205386" "" "" "" "1" "" "00006" "{PMID:Pilotto 2006:16793013}" "potentially affected father died at 80y after 20y congestive heart failure (DCM)" "F" "" "Italy" ">48y" "0" "" "" "" "" "00205387" "" "" "" "1" "" "00006" "{PMID:Reilich 2010:20171888}" "mother >60y bilateral foot extensor weakness, maternal grandfather cardiomyopathy" "M" "" "Germany" ">73y" "0" "" "" "" "" "00205388" "" "" "" "2" "" "00006" "{PMID:Devi 2008:18587492}" "2 affected brothers" "" "" "India" "" "0" "" "" "" "" "00289133" "" "" "" "1" "" "00006" "{PMID:Evilä 2016:26627873}" "" "" "" "Netherlands" "" "0" "" "" "" "P2" "00314191" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00316821" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00317717" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00334641" "" "" "" "7" "" "00000" "{PMID:Maranhao 2015:26352687}" "analysis 25 Pedigrees" "" "" "Pakistan" "" "0" "" "" "" "" "00334642" "" "" "" "7" "" "00000" "{PMID:Maranhao 2015:26352687}" "analysis 25 Pedigrees" "" "" "Pakistan" "" "0" "" "" "" "" "00385470" "" "" "" "1" "" "00000" "{PMID:Lenassi 2020:31848469}" "retrospective analysis" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "15004858" "00385494" "" "" "" "1" "" "00000" "{PMID:Lenassi 2020:31848469}" "retrospective analysis" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "16014046" "00392282" "" "" "" "1" "" "00000" "{PMID:Bell 2021:33494148}" "" "M" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "44" "00392303" "" "" "" "1" "" "00000" "{PMID:Bell 2021:33494148}" "" "M" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "44" "00392304" "" "" "" "1" "" "00000" "{PMID:Bell 2021:33494148}" "" "M" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "44" "00441798" "" "" "" "4" "" "00006" "{PMID:Cortese 2023:37772343}" "3-generation family, affected grandfather/father, son/daughter" "F;M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam1" "00441799" "" "" "" "1" "" "00006" "{PMID:Cortese 2023:37772343}" "2-generation family, 3 affected (3F)" "F" "" "Austria" "" "0" "" "" "" "Fam2" "00441890" "" "" "" "3" "" "00006" "{PMID:Khan 2015:26622071}" "2-generation family, 3 affected sibs (2F, M)" "" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam13" "00442654" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "F" "" "" "" "0" "" "" "" "Pat26" "00442800" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "F" "" "" "" "0" "" "" "" "Pat172" "00444887" "" "" "" "4" "" "00006" "{PMID:Ma 2016:26694549}" "3-generation family, 4 affected (4F)" "F" "" "Australia" "" "0" "" "" "" "Fam3PatIII1" "00444916" "" "" "" "5" "" "00006" "{PMID:Ma 2016:26694549}" "3-generation family, 5 affected (F, 4M)" "F" "" "Australia" "" "0" "" "" "" "Fam33PatII2" "00444957" "" "" "" "4" "" "00006" "{PMID:Patel 2017:27878435}" "family" "" "" "" "" "0" "" "" "" "11DG1744" "00446594" "" "" "" "2" "" "00006" "{PMID:Sun 2011:21866213}" "2-generation family, affected father/son" "M" "no" "China" "" "0" "" "" "" "QT192PatII1" "00446743" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 62 "{{individualid}}" "{{diseaseid}}" "00072253" "02494" "00072253" "03424" "00072254" "02494" "00072254" "03424" "00072255" "02494" "00072255" "03424" "00072256" "02494" "00072256" "03424" "00072257" "02494" "00072257" "03424" "00072258" "02494" "00072258" "03424" "00072260" "05165" "00072262" "05165" "00072263" "05165" "00072264" "05165" "00072265" "05165" "00072268" "05165" "00072269" "05165" "00103211" "05098" "00205368" "00352" "00205369" "00000" "00205370" "00000" "00205371" "00000" "00205372" "00000" "00205373" "00000" "00205374" "00000" "00205375" "00000" "00205376" "00198" "00205377" "00198" "00205378" "05299" "00205379" "00296" "00205380" "00198" "00205381" "00296" "00205382" "00296" "00205383" "05299" "00205384" "05299" "00205385" "00352" "00205386" "00352" "00205387" "05299" "00205388" "00296" "00289133" "00244" "00314191" "05126" "00316821" "04172" "00317717" "04172" "00334641" "04214" "00334642" "04214" "00385470" "04214" "00385494" "04214" "00392282" "04214" "00392303" "04214" "00392304" "04214" "00441798" "00199" "00441799" "00199" "00441890" "00296" "00442654" "05618" "00442800" "05618" "00444887" "00296" "00444916" "00296" "00444957" "00296" "00446594" "00296" "00446743" "04173" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00199, 00244, 00296, 00352, 02494, 02797, 03424, 03848, 04172, 04173, 04214, 04287, 05098, 05126, 05165, 05299, 05618 ## Count = 53 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000051965" "05165" "00072260" "01604" "Familial, autosomal recessive" "" "bilateral aphakia (HP:0007707), retinal dystrophic (HP:?), depressed retinal function (HP:?)" "00y06m" "" "" "" "" "" "" "" "" "" "" "0000051967" "05165" "00072262" "01604" "Familial, autosomal recessive" "" "right eye aphakia (HP:0007707), right eye retinal detachment (HP:0000541), left eye revealed nothing remarkable (HP:?)" "00y16m" "" "" "" "" "" "" "" "" "" "" "0000051968" "05165" "00072263" "01604" "Familial, autosomal recessive" "" "bilateral pseudophakia (HP:?), unremarkable retinal examination (HP:?)" "06y" "" "" "" "" "" "" "" "" "" "" "0000051969" "05165" "00072264" "01604" "Familial, autosomal recessive" "" "no ocular abnormality (-HP:?), clinically insignificant fine opacities in the red reflect (HP:?)" "01y" "" "" "" "" "" "" "" "" "" "" "0000051970" "05165" "00072265" "01604" "Familial, autosomal recessive" "" "visually insignificant lens opacities (HP:0000518), ophthalmic examination unremarkable (HP:?)" "" "" "" "" "" "" "" "" "" "" "" "0000051972" "05165" "00072268" "01604" "Familial, autosomal recessive" "" "congenital cataract (HP:0000519)" "<01y" "" "" "" "" "" "" "" "" "" "" "0000051974" "05165" "00072269" "01604" "Familial, autosomal recessive" "" "congenital cataract (HP:0000519)" "" "" "" "" "" "" "" "" "" "" "" "0000053287" "03424" "00072253" "01604" "Familial, autosomal dominant" "" "poor vision (HP:0000505), visual acuity test abnormality - before surgery (HP:0030532), less visual acuity test abnormality - after surgery (HP:0030532)" "" "" "" "" "" "" "" "" "" "" "" "0000053288" "03424" "00072254" "01604" "Familial, autosomal dominant" "" "poor vision (HP:0000505), visual acuity test abnormality - before surgery (HP:0030532), less visual acuity test abnormality - after surgery (HP:0030532)" "" "" "" "" "" "" "" "" "" "" "" "0000053289" "03424" "00072255" "01604" "Familial, autosomal dominant" "" "poor vision (HP:0000505), visual acuity test abnormality - before surgery (HP:0030532), less visual acuity test abnormality - after surgery (HP:0030532)" "" "" "" "" "" "" "" "" "" "" "" "0000053290" "03424" "00072256" "01604" "Familial, autosomal dominant" "" "poor vision (HP:0000505), visual acuity test abnormality - before surgery (HP:0030532), less visual acuity test abnormality - after surgery (HP:0030532)" "10y" "" "" "" "" "" "" "" "" "" "" "0000053291" "03424" "00072257" "01604" "Familial, autosomal dominant" "" "poor vision (HP:0000505), visual acuity test abnormality - before surgery (HP:0030532), less visual acuity test abnormality - after surgery (HP:0030532)" "09y" "" "" "" "" "" "" "" "" "" "" "0000053292" "03424" "00072258" "01604" "Familial, autosomal dominant" "" "poor vision (HP:0000505), visual acuity test abnormality - before surgery (HP:0030532), less visual acuity test abnormality - after surgery (HP:0030532)" "08y" "" "" "" "" "" "" "" "" "" "" "0000081308" "05098" "00103211" "01451" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153561" "00352" "00205368" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000153562" "00000" "00205369" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000153563" "00000" "00205370" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000153564" "00000" "00205371" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000153565" "00000" "00205372" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000153566" "00000" "00205373" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000153567" "00000" "00205374" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000153568" "00000" "00205375" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000153569" "00198" "00205376" "00006" "Unknown" "" "increased susceptibility multiple sclerosis and disease expression influenced; increased likelihood of a noninflammatory, neurodegenerative phenotype characterized by a relatively rapid, primary progressive clinical disease course" "" "" "" "" "" "" "" "" "" "?" "" "0000153570" "00198" "00205377" "00006" "Unknown" "" "reduced in cases" "" "" "" "" "" "" "" "" "" "?" "" "0000153571" "05299" "00205378" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "MFM-2" "myopathy, myofibrillar, infantile" "" "0000153572" "00296" "00205379" "00006" "Unknown" "" "cataract, posterior polar (CTPP2)" "" "" "" "" "" "" "" "" "" "cataract, congenital, autosomal dominant (CCad)" "" "0000153573" "00198" "00205380" "00006" "Familial, autosomal dominant" "" "myopathy, weakness proximal/distal limb muscle (incl. neck, velopharynx trunk muscles), cardiomyopathy signs, cataract; DES aggregates" "" "" "" "" "" "" "" "" "" "myopathy, desmin-related, with cataract (DRMC)" "" "0000153574" "00296" "00205381" "00006" "Familial, autosomal dominant" "" "cataract, lamellar" "" "" "" "" "" "" "" "" "" "cataract, congenital, autosomal dominant (CCad)" "" "0000153575" "00296" "00205382" "00006" "Familial, autosomal dominant" "" "posterior polar cataract (CTPP2)" "" "" "" "" "" "" "" "" "" "cataract, congenital, autosomal dominant (CCad)" "" "0000153576" "05299" "00205383" "00006" "Isolated (sporadic)" "" "no elevated serum creatine phosphokinase (-HP:003236) ; slowly progressive leg weakness, atrophy with bilateral foot drop, occasional cramping/stiffness leg muscles after exercise, severe weakness anterior tibial, toe extensor, peroneal muscles, mild weakness quadriceps, iliopsoas, hamstring, finger extensor muscles" "33y" "" "" "" "" "" "" "" "MFM-2" "myofibrillar myopathy" "" "0000153577" "05299" "00205384" "00006" "Isolated (sporadic)" "" "elevated serum creatine phosphokinase (HP:003236) 6.4x;" "52y" "" "ventilatory insufficiency, paralysis right/reduced movement left diaphragm" "" "" "" "" "" "MFM-2" "myofibrillar myopathy" "" "0000153578" "00352" "00205385" "00006" "Unknown" "" "mild, slowly expressed; >40y-developed cardiac symptoms, ECG apparent inverted T waves V4–V6, ventricular tachycardia" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000153579" "00352" "00205386" "00006" "Unknown" "" "mildly elevated serum creatine phosphokinase (HP:008180) ; mild left ventricular dilation (LVEF=30%), restrictive transmittal flow pattern, mild mitral regurgitation, ECG sinus rhythm, negative T waves precordial leads (V4–V6), Holter ECG no arrhythmias, cataract absent" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000153580" "05299" "00205387" "00006" "Unknown" "" "elevated serum creatine phosphokinase (HP:003236) 1.5-2.5x; late-onset distal vacuolar myopathy (protein aggregates); affected finger flexors, mild swallowing difficulties (fluids), coronary heart disease, intermittent atrial fibrillations, diabetes mellitus, hyperlipidemia, hypertonia" "68y" "" "slowly progressive distal leg weakness/atrophy (bilateral foot extensor weakness)" "" "" "" "" "" "MFM-2" "myopathy, myofibrillar, distal vacuolar" "" "0000153581" "00296" "00205388" "00006" "Unknown" "" "cataract, lamellar" "" "" "" "" "" "" "" "" "" "cataract, congenital, autosomal dominant (CCad)" "" "0000222766" "00244" "00289133" "00006" "Isolated (sporadic)" "" "distal myopathy" "" "" "" "" "" "" "" "" "MFM2" "myopathy" "" "0000240567" "04172" "00316821" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241463" "04172" "00317717" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000279265" "04214" "00385470" "00000" "Unknown" "" "" "4y" "" "" "" "" "" "" "" "bilateral paediatric cataract" "congenital cataracts" "" "0000279289" "04214" "00385494" "00000" "Unknown" "" "" "<1y" "" "" "" "" "" "" "" "" "congenital cataracts" "" "0000285560" "04214" "00392282" "00000" "Familial, autosomal dominant" "62y" "Anterior polar cataract" "" "" "" "" "" "" "" "" "Cataract 16, multiple type" "" "" "0000285579" "04214" "00392303" "00000" "Familial, autosomal dominant" "30y" "aphakia" "" "0m" "" "" "" "" "" "" "Cataract 16, multiple type" "" "" "0000285580" "04214" "00392304" "00000" "Familial, autosomal dominant" "30y" "sutural/blue dot cataract" "" "21d" "" "" "" "" "" "" "Cataract 16, multiple type" "" "" "0000331206" "00199" "00441798" "00006" "Familial, autosomal dominant" "" "see paper; ..., Charcot–Marie–Tooth disease, congenital cataracts" "" "" "" "" "" "" "" "" "" "" "" "0000331207" "00199" "00441799" "00006" "Familial, autosomal dominant" "" "see paper; ..., Charcot-Marie-Tooth disease, congenital cataract" "" "" "" "" "" "" "" "" "" "" "" "0000331278" "00296" "00441890" "00006" "Familial, autosomal recessive" "" "bilateral juvenile cataract to total white" "" "" "" "" "" "" "" "" "" "cataract" "" "0000332001" "05618" "00442654" "00006" "Unknown" "62y" "Distal anterior myopathy with weakness of neck muscles; muscle biopsy: type 1 fiber size predominance with presence of internal nuclei and core-like structures, dystrophic changes and basophilic vacuoles; CK = 193 U/l" "30y" "" "" "" "" "" "" "" "" "Autosomal dominant distal weakness" "" "0000332147" "05618" "00442800" "00006" "Unknown" "" "Exercise intolerance, myalgia, with fibre type 1 predominance in muscle biopsy, possibly autosomal dominant" "" "" "" "" "" "" "" "" "" "exercise intolerance" "" "0000334137" "00296" "00444887" "00006" "Familial, autosomal dominant" "" "see paper; ..., bilateral rudimentary lens on ultrasound, bilateral sclerocornea, nystagmus visual acuity 2/60; sister bilateral cataracts, mother bilateral cataracts, father unaffected" "" "" "" "" "" "" "" "" "" "cataract" "" "0000334166" "00296" "00444916" "00006" "Familial, autosomal dominant" "" "see paper; ..., bilateral lens opacities with \'frosted glass\' appearance; son 18m-cataracts, 6y-lensectomies; father and 2 uncles with cataracts." "" "" "" "" "" "" "" "" "CTRCT16" "cataract" "" "0000334207" "00296" "00444957" "00006" "Familial, autosomal recessive" "" "pediatric cataract; not syndromic" "" "" "" "" "" "" "" "" "CTRCT9" "cataract" "" "0000335795" "00296" "00446594" "00006" "Familial, autosomal dominant" "" "cataract" "" "" "" "" "" "" "" "" "CTRCT16" "catarct" "" "0000335947" "04173" "00446743" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" ## Screenings ## Do not remove or alter this header ## ## Count = 56 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000072408" "00072253" "1" "01604" "01604" "2016-06-02 12:30:56" "" "" "PCR;SEQ-NG" "DNA" "" "" "0000072409" "00072254" "1" "01604" "01604" "2016-06-02 12:35:06" "" "" "PCR;SEQ-NG" "DNA" "" "" "0000072410" "00072255" "1" "01604" "01604" "2016-06-02 12:41:22" "" "" "PCR;SEQ-NG" "DNA" "" "" "0000072411" "00072256" "1" "01604" "01604" "2016-06-02 16:10:03" "" "" "PCR;SEQ-NG" "DNA" "" "" "0000072412" "00072257" "1" "01604" "01604" "2016-06-02 16:14:12" "" "" "PCR;SEQ-NG" "DNA" "" "" "0000072413" "00072258" "1" "01604" "01604" "2016-06-02 16:17:35" "" "" "PCR;SEQ-NG" "DNA" "" "" "0000072415" "00072260" "1" "01604" "01604" "2016-06-03 09:49:09" "" "" "PCR;SEQ-NG" "DNA" "" "" "0000072417" "00072262" "1" "01604" "01604" "2016-06-03 10:01:56" "" "" "PCR;SEQ-NG" "DNA" "" "" "0000072418" "00072263" "1" "01604" "01604" "2016-06-03 10:06:08" "" "" "PCR;SEQ-NG" "DNA" "" "" "0000072419" "00072264" "1" "01604" "01604" "2016-06-03 10:10:50" "" "" "PCR;SEQ-NG" "DNA" "" "" "0000072420" "00072265" "1" "01604" "01604" "2016-06-03 10:15:49" "" "" "PCR;SEQ-NG" "DNA" "" "" "0000072422" "00072268" "1" "01604" "01604" "2016-06-03 10:56:54" "" "" "PCRq;SEQ-NG" "DNA" "" "" "0000072423" "00072269" "1" "01604" "01604" "2016-06-03 11:00:24" "" "" "PCRq;SEQ-NG" "DNA" "" "" "0000103666" "00103211" "1" "01451" "01451" "2017-04-09 09:23:50" "" "" "arraySNP" "DNA" "" "" "0000206398" "00205368" "1" "00006" "00006" "2010-03-14 16:02:14" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" "" "0000206399" "00205369" "1" "00006" "00006" "2010-03-14 16:02:14" "00006" "2013-02-01 19:44:08" "SSCA;SEQ" "DNA" "" "" "0000206400" "00205370" "1" "00006" "00006" "2010-03-14 16:02:14" "00006" "2013-02-01 19:44:08" "SSCA;SEQ" "DNA" "" "" "0000206401" "00205371" "1" "00006" "00006" "2010-03-14 16:02:14" "00006" "2013-02-01 19:44:08" "SSCA;SEQ" "DNA" "" "" "0000206402" "00205372" "1" "00006" "00006" "2010-03-14 16:02:14" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" "" "0000206403" "00205373" "1" "00006" "00006" "2010-03-14 16:02:14" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" "" "0000206404" "00205374" "1" "00006" "00006" "2010-03-14 16:02:14" "00006" "2013-02-01 19:44:08" "SSCA;SEQ" "DNA" "" "" "0000206405" "00205375" "1" "00006" "00006" "2010-03-14 16:02:14" "00006" "2013-02-01 19:44:08" "SSCA;SEQ" "DNA" "" "" "0000206406" "00205376" "1" "00006" "00006" "2010-03-14 16:02:14" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" "" "0000206407" "00205377" "1" "00006" "00006" "2010-03-14 16:02:14" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" "" "0000206408" "00205378" "1" "00464" "00006" "2011-11-18 20:07:18" "00006" "2013-02-01 19:44:08" "PCR;SEQ" "DNA" "" "" "0000206409" "00205379" "1" "00006" "00006" "2010-03-14 16:02:14" "00006" "2013-02-01 19:44:08" "SSCA;SEQ" "DNA" "" "" "0000206410" "00205380" "1" "00006" "00006" "2010-03-14 16:02:14" "00006" "2012-03-04 15:56:08" "RT-PCR;SSCA;SEQ" "DNA;RNA" "" "" "0000206411" "00205381" "1" "00006" "00006" "2010-03-14 16:02:14" "00006" "2012-03-04 15:56:08" "SEQ" "DNA" "" "" "0000206412" "00205382" "1" "00006" "00006" "2010-03-14 16:02:14" "00006" "2017-03-31 14:13:45" "SEQ" "DNA" "" "" "0000206413" "00205383" "1" "00006" "00006" "2010-03-14 16:02:14" "00006" "2012-03-04 15:56:08" "SEQ" "DNA" "" "" "0000206414" "00205384" "1" "00006" "00006" "2010-03-14 16:02:14" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" "" "0000206415" "00205385" "1" "00006" "00006" "2010-03-14 16:02:14" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" "" "0000206416" "00205386" "1" "00006" "00006" "2010-04-10 20:56:17" "00006" "2013-02-01 19:44:08" "DHPLC;SEQ" "DNA" "" "" "0000206417" "00205387" "1" "00006" "00006" "2010-04-10 20:56:17" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" "" "0000206418" "00205388" "1" "00006" "00006" "2011-02-20 13:42:27" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" "" "0000290303" "00289133" "1" "00006" "00006" "2020-03-01 11:31:09" "" "" "SEQ;SEQ-NG" "DNA" "" "MyoCap 180 myopathy gene panel" "0000315364" "00314191" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000318003" "00316821" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318899" "00317717" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000335870" "00334641" "1" "00000" "00006" "2021-03-01 16:58:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000335871" "00334642" "1" "00000" "00006" "2021-03-01 16:58:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000386699" "00385470" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "114 genes panel tested" "0000386723" "00385494" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "114 genes panel tested" "0000393524" "00392282" "1" "00000" "03840" "2021-11-22 09:44:22" "" "" "SEQ-NG" "DNA" "blood" "targeted next-generation sequencing" "0000393545" "00392303" "1" "00000" "03840" "2021-11-22 12:45:22" "" "" "SEQ-NG" "DNA" "blood" "targeted next-generation sequencing" "0000393546" "00392304" "1" "00000" "03840" "2021-11-22 12:45:22" "" "" "SEQ-NG" "DNA" "blood" "targeted next-generation sequencing" "0000443284" "00441798" "1" "00006" "00006" "2023-11-12 20:52:05" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000443285" "00441799" "1" "00006" "00006" "2023-11-12 20:55:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443375" "00441890" "1" "00006" "00006" "2023-11-14 16:19:09" "" "" "SEQ" "DNA" "" "" "0000444138" "00442654" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444284" "00442800" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ-NG" "DNA" "" "WES" "0000446456" "00444887" "1" "00006" "00006" "2023-12-28 19:27:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000446485" "00444916" "1" "00006" "00006" "2023-12-28 19:27:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000446526" "00444957" "1" "00006" "00006" "2023-12-29 13:59:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448167" "00446594" "1" "00006" "00006" "2024-01-18 20:37:34" "" "" "SEQ;SEQ-NG" "DNA" "" "12-gene panel" "0000448318" "00446743" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 44 "{{screeningid}}" "{{geneid}}" "0000072408" "CRYAB" "0000072409" "CRYAB" "0000072410" "CRYAB" "0000072411" "CRYAB" "0000072412" "CRYAB" "0000072413" "CRYAB" "0000072415" "CRYAB" "0000072417" "CRYAB" "0000072418" "CRYAB" "0000072419" "CRYAB" "0000072420" "CRYAB" "0000072422" "CRYAB" "0000072423" "CRYAB" "0000103666" "CRYAB" "0000206398" "CRYAB" "0000206399" "CRYAB" "0000206400" "CRYAB" "0000206401" "CRYAB" "0000206402" "CRYAB" "0000206403" "CRYAB" "0000206404" "CRYAB" "0000206405" "CRYAB" "0000206406" "CRYAB" "0000206407" "CRYAB" "0000206408" "CRYAB" "0000206409" "CRYAB" "0000206410" "CRYAB" "0000206411" "CRYAB" "0000206412" "CRYAB" "0000206413" "CRYAB" "0000206414" "CRYAB" "0000206415" "CRYAB" "0000206416" "CRYAB" "0000206417" "CRYAB" "0000206418" "CRYAB" "0000290303" "CRYAB" "0000315364" "CRYAB" "0000318003" "CRYAB" "0000318899" "CRYAB" "0000386699" "CRYAB" "0000386723" "CRYAB" "0000393545" "CRYAB" "0000393546" "CRYAB" "0000443375" "CRYAB" ## 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 = 156 "{{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}}" "0000115968" "1" "70" "11" "111782390" "111782390" "subst" "0" "01604" "CRYAB_000021" "g.111782390G>C" "" "{PMID:Xia 2014:25195561}, {DOI:Xia 2016:10.1186/1471-2415-14-108}" "" "" "" "Germline" "" "" "0" "" "" "g.111911666G>C" "" "likely pathogenic" "" "0000115969" "1" "70" "11" "111782390" "111782390" "subst" "0" "01604" "CRYAB_000021" "g.111782390G>C" "" "{PMID:Xia 2014:25195561}, {DOI:Xia 2016:10.1186/1471-2415-14-108}" "" "" "" "Germline" "" "" "0" "" "" "g.111911666G>C" "" "likely pathogenic" "" "0000115970" "1" "70" "11" "111782390" "111782390" "subst" "0" "01604" "CRYAB_000021" "g.111782390G>C" "" "{PMID:Xia 2014:25195561}, {DOI:Xia 2016:10.1186/1471-2415-14-108}" "" "" "" "Germline" "" "" "0" "" "" "g.111911666G>C" "" "likely pathogenic" "" "0000115971" "1" "70" "11" "111782390" "111782390" "subst" "0" "01604" "CRYAB_000021" "g.111782390G>C" "" "{PMID:Xia 2014:25195561}, {DOI:Xia 2016:10.1186/1471-2415-14-108}" "" "" "" "Germline" "" "" "0" "" "" "g.111911666G>C" "" "likely pathogenic" "" "0000115972" "1" "70" "11" "111782390" "111782390" "subst" "0" "01604" "CRYAB_000021" "g.111782390G>C" "" "{PMID:Xia 2014:25195561}, {DOI:Xia 2016:10.1186/1471-2415-14-108}" "" "" "" "Germline" "" "" "0" "" "" "g.111911666G>C" "" "likely pathogenic" "" "0000115973" "1" "70" "11" "111782390" "111782390" "subst" "0" "01604" "CRYAB_000021" "g.111782390G>C" "" "{PMID:Xia 2014:25195561}, {DOI:Xia 2016:10.1186/1471-2415-14-108}" "" "" "" "Germline" "" "" "0" "" "" "g.111911666G>C" "" "likely pathogenic" "" "0000115976" "3" "70" "11" "111782283" "111782283" "subst" "0" "01604" "CRYAB_000023" "g.111782283G>A" "" "{PMID:Safieh 2009:19461931}, {PMID:Khan 2015:26622071}" "" "" "" "Germline" "" "" "0" "" "" "g.111911559G>A" "" "likely pathogenic (recessive)" "" "0000115977" "3" "70" "11" "111782283" "111782283" "subst" "0" "01604" "CRYAB_000023" "g.111782283G>A" "" "{PMID:Safieh 2009:19461931}, {PMID:Khan 2015:26622071}" "" "" "" "Germline" "" "" "0" "" "" "g.111911559G>A" "" "likely pathogenic (recessive)" "" "0000115978" "3" "70" "11" "111782283" "111782283" "subst" "0" "01604" "CRYAB_000023" "g.111782283G>A" "" "{PMID:Safieh 2009:19461931}, {PMID:Khan 2015:26622071}" "" "" "" "Germline" "" "" "0" "" "" "g.111911559G>A" "" "likely pathogenic (recessive)" "" "0000115979" "3" "70" "11" "111782283" "111782283" "subst" "0" "01604" "CRYAB_000023" "g.111782283G>A" "" "{PMID:Safieh 2009:19461931}, {PMID:Khan 2015:26622071}" "" "" "" "Germline" "" "" "0" "" "" "g.111911559G>A" "" "likely pathogenic (recessive)" "" "0000115980" "3" "70" "11" "111782283" "111782283" "subst" "0" "01604" "CRYAB_000023" "g.111782283G>A" "" "{PMID:Safieh 2009:19461931}, {PMID:Khan 2015:26622071}" "" "" "" "Germline" "" "" "0" "" "" "g.111911559G>A" "" "likely pathogenic (recessive)" "" "0000115982" "3" "70" "11" "111782415" "111782415" "subst" "0" "01604" "CRYAB_000022" "g.111782415G>A" "" "{PMID:Jiaox 2015:26402864}, {DOI:Jiaox 2015:10.1371/journal.pone.0137973}" "" "" "" "Germline" "" "" "0" "" "" "g.111911691G>A" "" "likely pathogenic" "" "0000115983" "3" "70" "11" "111782415" "111782415" "subst" "0" "01604" "CRYAB_000022" "g.111782415G>A" "" "{PMID:Jiaox 2015:26402864}, {DOI:Jiaox 2015:10.1371/journal.pone.0137973}" "" "" "" "Germline" "" "" "0" "" "" "g.111911691G>A" "" "likely pathogenic" "" "0000167135" "0" "90" "11" "111779690" "111779690" "subst" "0" "01451" "CRYAB_000024" "g.111779690T>C" "2" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.111908966T>C" "" "likely pathogenic" "" "0000246976" "0" "10" "11" "111781047" "111781047" "subst" "0.274047" "02330" "CRYAB_000015" "g.111781047A>C" "" "" "" "CRYAB(NM_001885.2):c.324+4T>G, CRYAB(NM_001885.3):c.324+4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111910323A>C" "" "benign" "" "0000247847" "0" "10" "11" "111781047" "111781047" "subst" "0.274047" "02325" "CRYAB_000015" "g.111781047A>C" "" "" "" "CRYAB(NM_001885.2):c.324+4T>G, CRYAB(NM_001885.3):c.324+4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111910323A>C" "" "benign" "" "0000250629" "0" "10" "11" "111781047" "111781047" "subst" "0.274047" "02326" "CRYAB_000015" "g.111781047A>C" "" "" "" "CRYAB(NM_001885.2):c.324+4T>G, CRYAB(NM_001885.3):c.324+4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111910323A>C" "" "benign" "" "0000252981" "0" "10" "11" "111781047" "111781047" "subst" "0.274047" "01943" "CRYAB_000015" "g.111781047A>C" "" "" "" "CRYAB(NM_001885.2):c.324+4T>G, CRYAB(NM_001885.3):c.324+4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111910323A>C" "" "benign" "" "0000265018" "0" "10" "11" "111779482" "111779482" "subst" "0" "02330" "CRYAB_000025" "g.111779482G>A" "" "" "" "CRYAB(NM_001885.3):c.*6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111908758G>A" "" "benign" "" "0000265019" "0" "10" "11" "111782297" "111782297" "subst" "0.000562084" "02330" "CRYAB_000009" "g.111782297G>A" "" "" "" "CRYAB(NM_001885.2):c.152C>T (p.P51L), CRYAB(NM_001885.3):c.152C>T (p.P51L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111911573G>A" "" "benign" "" "0000265020" "0" "10" "11" "111782284" "111782284" "subst" "0.0154796" "02330" "CRYAB_000039" "g.111782284C>T" "" "" "" "CRYAB(NM_001885.2):c.165G>A (p.L55=), CRYAB(NM_001885.3):c.165G>A (p.L55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111911560C>T" "" "benign" "" "0000265021" "0" "50" "11" "111782231" "111782231" "subst" "1.3321E-5" "02330" "CRYAB_000038" "g.111782231G>C" "" "" "" "CRYAB(NM_001885.3):c.201+17C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111911507G>C" "" "VUS" "" "0000265022" "0" "50" "11" "111779649" "111779649" "subst" "2.03224E-5" "02330" "CRYAB_000032" "g.111779649G>A" "" "" "" "CRYAB(NM_001885.2):c.367C>T (p.R123W), CRYAB(NM_001885.3):c.367C>T (p.R123W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111908925G>A" "" "VUS" "" "0000265023" "0" "10" "11" "111779556" "111779556" "subst" "0.000905532" "02330" "CRYAB_000017" "g.111779556C>T" "" "" "" "CRYAB(NM_001289807.1):c.460G>A (p.(Gly154Ser)), CRYAB(NM_001885.2):c.460G>A (p.G154S), CRYAB(NM_001885.3):c.460G>A (p.G154S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111908832C>T" "" "benign" "" "0000265024" "0" "50" "11" "111779547" "111779547" "subst" "2.84262E-5" "02330" "CRYAB_000030" "g.111779547G>A" "" "" "" "CRYAB(NM_001885.3):c.469C>T (p.R157C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111908823G>A" "" "VUS" "" "0000265025" "0" "10" "11" "111779500" "111779500" "subst" "2.84299E-5" "02330" "CRYAB_000027" "g.111779500G>T" "" "" "" "CRYAB(NM_001885.3):c.516C>A (p.A172=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111908776G>T" "" "benign" "" "0000265026" "0" "10" "11" "111782389" "111782389" "subst" "0.0049957" "02330" "CRYAB_000042" "g.111782389G>A" "" "" "" "CRYAB(NM_001885.2):c.60C>T (p.P20=), CRYAB(NM_001885.3):c.60C>T (p.P20=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111911665G>A" "" "benign" "" "0000265027" "0" "10" "11" "111782365" "111782365" "subst" "0" "02330" "CRYAB_000041" "g.111782365G>A" "" "" "" "CRYAB(NM_001885.3):c.84C>T (p.F28=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111911641G>A" "" "benign" "" "0000267132" "0" "30" "11" "111782469" "111782469" "subst" "0.000323814" "02325" "CRYAB_000045" "g.111782469G>A" "" "" "" "CRYAB(NM_001885.3):c.-21C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111911745G>A" "" "likely benign" "" "0000267133" "0" "30" "11" "111782297" "111782297" "subst" "0.000562084" "02325" "CRYAB_000009" "g.111782297G>A" "" "" "" "CRYAB(NM_001885.2):c.152C>T (p.P51L), CRYAB(NM_001885.3):c.152C>T (p.P51L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111911573G>A" "" "likely benign" "" "0000267134" "0" "30" "11" "111782284" "111782284" "subst" "0.0154796" "02325" "CRYAB_000039" "g.111782284C>T" "" "" "" "CRYAB(NM_001885.2):c.165G>A (p.L55=), CRYAB(NM_001885.3):c.165G>A (p.L55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111911560C>T" "" "likely benign" "" "0000267135" "0" "50" "11" "111779649" "111779649" "subst" "2.03224E-5" "02325" "CRYAB_000032" "g.111779649G>A" "" "" "" "CRYAB(NM_001885.2):c.367C>T (p.R123W), CRYAB(NM_001885.3):c.367C>T (p.R123W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111908925G>A" "" "VUS" "" "0000267136" "0" "30" "11" "111779556" "111779556" "subst" "0.000905532" "02325" "CRYAB_000017" "g.111779556C>T" "" "" "" "CRYAB(NM_001289807.1):c.460G>A (p.(Gly154Ser)), CRYAB(NM_001885.2):c.460G>A (p.G154S), CRYAB(NM_001885.3):c.460G>A (p.G154S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111908832C>T" "" "likely benign" "" "0000267137" "0" "50" "11" "111779529" "111779529" "subst" "2.03056E-5" "02325" "CRYAB_000029" "g.111779529G>A" "" "" "" "CRYAB(NM_001885.1):c.487C>T (p.(Arg163Cys)), CRYAB(NM_001885.3):c.487C>T (p.R163C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111908805G>A" "" "VUS" "" "0000267138" "0" "30" "11" "111779500" "111779500" "subst" "2.84299E-5" "02325" "CRYAB_000027" "g.111779500G>T" "" "" "" "CRYAB(NM_001885.3):c.516C>A (p.A172=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111908776G>T" "" "likely benign" "" "0000267139" "0" "30" "11" "111782389" "111782389" "subst" "0.0049957" "02325" "CRYAB_000042" "g.111782389G>A" "" "" "" "CRYAB(NM_001885.2):c.60C>T (p.P20=), CRYAB(NM_001885.3):c.60C>T (p.P20=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111911665G>A" "" "likely benign" "" "0000270597" "0" "30" "11" "111782297" "111782297" "subst" "0.000562084" "02326" "CRYAB_000009" "g.111782297G>A" "" "" "" "CRYAB(NM_001885.2):c.152C>T (p.P51L), CRYAB(NM_001885.3):c.152C>T (p.P51L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111911573G>A" "" "likely benign" "" "0000270598" "0" "10" "11" "111782284" "111782284" "subst" "0.0154796" "02326" "CRYAB_000039" "g.111782284C>T" "" "" "" "CRYAB(NM_001885.2):c.165G>A (p.L55=), CRYAB(NM_001885.3):c.165G>A (p.L55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111911560C>T" "" "benign" "" "0000270599" "0" "70" "11" "111779691" "111779691" "subst" "0" "02326" "CRYAB_000033" "g.111779691C>T" "" "" "" "CRYAB(NM_001885.3):c.325G>A (p.D109N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111908967C>T" "" "likely pathogenic" "" "0000270600" "0" "30" "11" "111779649" "111779649" "subst" "2.03224E-5" "02326" "CRYAB_000032" "g.111779649G>A" "" "" "" "CRYAB(NM_001885.2):c.367C>T (p.R123W), CRYAB(NM_001885.3):c.367C>T (p.R123W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111908925G>A" "" "likely benign" "" "0000270601" "0" "30" "11" "111779556" "111779556" "subst" "0.000905532" "02326" "CRYAB_000017" "g.111779556C>T" "" "" "" "CRYAB(NM_001289807.1):c.460G>A (p.(Gly154Ser)), CRYAB(NM_001885.2):c.460G>A (p.G154S), CRYAB(NM_001885.3):c.460G>A (p.G154S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111908832C>T" "" "likely benign" "" "0000270602" "0" "30" "11" "111779500" "111779500" "subst" "2.84299E-5" "02326" "CRYAB_000027" "g.111779500G>T" "" "" "" "CRYAB(NM_001885.3):c.516C>A (p.A172=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111908776G>T" "" "likely benign" "" "0000270603" "0" "90" "11" "111779489" "111779489" "subst" "0" "02326" "CRYAB_000026" "g.111779489T>C" "" "" "" "CRYAB(NM_001885.3):c.527A>G (p.*176Wext*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111908765T>C" "" "pathogenic" "" "0000270604" "0" "10" "11" "111782389" "111782389" "subst" "0.0049957" "02326" "CRYAB_000042" "g.111782389G>A" "" "" "" "CRYAB(NM_001885.2):c.60C>T (p.P20=), CRYAB(NM_001885.3):c.60C>T (p.P20=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111911665G>A" "" "benign" "" "0000274441" "0" "30" "11" "111782297" "111782297" "subst" "0.000562084" "01943" "CRYAB_000009" "g.111782297G>A" "" "" "" "CRYAB(NM_001885.2):c.152C>T (p.P51L), CRYAB(NM_001885.3):c.152C>T (p.P51L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111911573G>A" "" "likely benign" "" "0000274442" "0" "10" "11" "111782284" "111782284" "subst" "0.0154796" "01943" "CRYAB_000039" "g.111782284C>T" "" "" "" "CRYAB(NM_001885.2):c.165G>A (p.L55=), CRYAB(NM_001885.3):c.165G>A (p.L55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111911560C>T" "" "benign" "" "0000274443" "0" "30" "11" "111782430" "111782430" "subst" "0" "01943" "CRYAB_000043" "g.111782430G>A" "" "" "" "CRYAB(NM_001885.2):c.19C>T (p.H7Y), CRYAB(NM_001885.3):c.19C>T (p.H7Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111911706G>A" "" "likely benign" "" "0000274444" "0" "70" "11" "111781050" "111781050" "subst" "0" "01943" "CRYAB_000037" "g.111781050C>A" "" "" "" "CRYAB(NM_001885.2):c.324+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111910326C>A" "" "likely pathogenic" "" "0000274445" "0" "30" "11" "111779709" "111779709" "subst" "4.08944E-6" "01943" "CRYAB_000034" "g.111779709G>A" "" "" "" "CRYAB(NM_001885.2):c.325-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111908985G>A" "" "likely benign" "" "0000274446" "0" "30" "11" "111779556" "111779556" "subst" "0.000905532" "01943" "CRYAB_000017" "g.111779556C>T" "" "" "" "CRYAB(NM_001289807.1):c.460G>A (p.(Gly154Ser)), CRYAB(NM_001885.2):c.460G>A (p.G154S), CRYAB(NM_001885.3):c.460G>A (p.G154S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111908832C>T" "" "likely benign" "" "0000274447" "0" "30" "11" "111779506" "111779506" "subst" "4.46737E-5" "01943" "CRYAB_000028" "g.111779506G>A" "" "" "" "CRYAB(NM_001885.2):c.510C>T (p.T170=), CRYAB(NM_001885.3):c.510C>T (p.T170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111908782G>A" "" "likely benign" "" "0000274448" "0" "30" "11" "111782442" "111782442" "subst" "1.05499E-5" "01943" "CRYAB_000044" "g.111782442T>C" "" "" "" "CRYAB(NM_001885.2):c.7A>G (p.I3V), CRYAB(NM_001885.3):c.7A>G (p.I3V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111911718T>C" "" "likely benign" "" "0000341806" "0" "50" "11" "111779649" "111779649" "subst" "2.03224E-5" "02327" "CRYAB_000032" "g.111779649G>A" "" "" "" "CRYAB(NM_001885.2):c.367C>T (p.R123W), CRYAB(NM_001885.3):c.367C>T (p.R123W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111908925G>A" "" "VUS" "" "0000349028" "0" "50" "11" "111782316" "111782316" "subst" "0" "02327" "CRYAB_000035" "g.111782316T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111911592T>C" "" "VUS" "" "0000435950" "0" "10" "11" "111781047" "111781047" "subst" "0.274047" "00006" "CRYAB_000015" "g.111781047A>C" "" "{PMID:Inagaki 2006:16483541}" "" "" "detected in many patients" "Germline" "" "rs11603779" "0" "" "" "g.111910323A>C" "" "benign" "" "0000435951" "0" "50" "11" "111782327" "111782327" "subst" "0" "00006" "CRYAB_000001" "g.111782327G>T" "0.02" "{PMID:Hahner 2000:11013455}" "" "" "" "Germline" "" "rs2234703" "0" "" "" "g.111911603G>T" "" "VUS" "" "0000435952" "0" "50" "11" "111782297" "111782297" "subst" "0.000562084" "00006" "CRYAB_000009" "g.111782297G>A" "0.02" "{PMID:Hahner 2000:11013455}" "" "" "" "Germline" "" "rs2234704" "0" "" "" "g.111911573G>A" "" "VUS" "" "0000435953" "0" "50" "11" "111782697" "111782697" "subst" "0" "00006" "CRYAB_000010" "g.111782697G>C" "0.74" "{PMID:Hahner 2000:11013455}" "" "" "" "Germline" "" "rs14133" "0" "" "" "g.111911973G>C" "" "VUS" "" "0000435954" "1" "50" "11" "111782697" "111782697" "subst" "0" "00006" "CRYAB_000010" "g.111782697G>C" "" "{PMID:Van Veen 2003:16877416}" "" "" "LD with c.-652A" "Germline" "" "rs14133" "0" "" "" "g.111911973G>C" "" "VUS" "" "0000435955" "1" "50" "11" "111782697" "111782697" "subst" "0" "00006" "CRYAB_000010" "g.111782697G>C" "" "{PMID:Van Veen 2003:16877416}" "" "" "LD with c.-650C>G" "Germline" "" "rs14133" "0" "" "" "g.111911973G>C" "" "VUS" "" "0000435956" "0" "50" "11" "111783098" "111783098" "subst" "0" "00006" "CRYAB_000011" "g.111783098G>C" "0.05" "{PMID:Hahner 2000:11013455}" "" "" "" "Germline" "" "rs2234702" "0" "" "" "g.111912374G>C" "" "VUS" "" "0000435957" "1" "50" "11" "111783098" "111783098" "subst" "0" "00006" "CRYAB_000011" "g.111783098G>C" "" "{PMID:Van Veen 2003:16877416}" "" "" "LD with c.-249C>G" "Germline" "" "rs2234702" "0" "" "" "g.111912374G>C" "" "VUS" "" "0000435958" "0" "50" "11" "111783100" "111783100" "subst" "0" "00006" "CRYAB_000012" "g.111783100T>C" "0.65" "{PMID:Hahner 2000:11013455}" "" "" "" "Germline" "" "rs22283872" "0" "" "" "g.111912376T>C" "" "VUS" "" "0000435959" "1" "70" "11" "111783098" "111783098" "subst" "0" "00006" "CRYAB_000011" "g.111783098G>C" "" "{PMID:Van Veen 2003:16877416}" "" "" "reduced in cases OR 0.45 (99% CI 0.21-0.97)" "Germline" "" "" "0" "" "" "g.111912374G>C" "" "likely pathogenic" "" "0000435960" "1" "70" "11" "111783100" "111783100" "subst" "0" "00006" "CRYAB_000012" "g.111783100T>C" "" "{PMID:Van Veen 2003:16877416}" "" "" "reduced in cases OR 0.45 (99% CI 0.21-0.97)" "Germline" "" "rs762550" "0" "" "" "g.111912376T>C" "" "likely pathogenic" "" "0000435961" "3" "70" "11" "111779612" "111779612" "subst" "4.06114E-6" "00464" "CRYAB_000019" "g.111779612G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.111908888G>T" "" "likely pathogenic" "" "0000435962" "1" "90" "11" "111782391" "111782391" "subst" "0" "00006" "CRYAB_000002" "g.111782391G>A" "" "{PMID:Liu 2006:16877416}" "" "" "mapped by linkage; not in 400 control chromosomes" "Germline" "" "rs28929489" "0" "" "" "g.111911667G>A" "" "pathogenic" "" "0000435963" "1" "90" "11" "111779658" "111779658" "subst" "0" "00006" "CRYAB_000003" "g.111779658T>C" "" "{PMID:Vicart 1998:09731540}, {OMIM123590:0001}" "BsaII+" "3787A>G" "mapped by linkage; not in 300 control chromosomes; DES normal" "Germline" "" "" "0" "" "" "g.111908934T>C" "" "pathogenic" "" "0000435964" "1" "90" "11" "111779598" "111779598" "subst" "0" "00006" "CRYAB_000004" "g.111779598C>T" "" "{PMID:Liu 2006:16505043}" "" "" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.111908874C>T" "" "pathogenic" "" "0000435965" "1" "90" "11" "111779568" "111779568" "del" "0" "00006" "CRYAB_000005" "g.111779568del" "" "{PMID:Berry 2001:11577372}, {OMIM123590:0002}" "" "450delA" "mapped by linkage; not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.111908844del" "" "pathogenic" "" "0000435966" "1" "90" "11" "111779565" "111779565" "subst" "0" "00006" "CRYAB_000006" "g.111779565G>A" "" "{PMID:Selcen 2003:14681890}, {OMIM123590:0004}" "" "" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.111908841G>A" "" "pathogenic" "" "0000435967" "1" "90" "11" "111779551" "111779552" "del" "0" "00006" "CRYAB_000007" "g.111779551_111779552del" "" "{PMID:Selcen 2003:14681890}, {OMIM123590:0003}" "" "464delCT" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.111908827_111908828del" "" "pathogenic" "" "0000435968" "1" "90" "11" "111779546" "111779546" "subst" "7.7158E-5" "00006" "CRYAB_000008" "g.111779546C>T" "" "{PMID:Inagaki 2006:16483541}" "" "" "not in 400 control chromosomes" "Germline" "" "" "0" "" "" "g.111908822C>T" "" "pathogenic" "" "0000435969" "1" "90" "11" "111779556" "111779556" "subst" "0.000905532" "00006" "CRYAB_000017" "g.111779556C>T" "" "{PMID:Pilotto 2006:16793013}" "" "" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.111908832C>T" "" "pathogenic" "" "0000435970" "1" "90" "11" "111779556" "111779556" "subst" "0.000905532" "00006" "CRYAB_000017" "g.111779556C>T" "" "{PMID:Reilich 2010:20171888}" "" "" "inheritance possibly autosomal dominant" "Germline" "" "" "0" "" "" "g.111908832C>T" "" "pathogenic" "" "0000435971" "1" "90" "11" "111779505" "111779505" "subst" "4.06144E-6" "00006" "CRYAB_000018" "g.111779505C>T" "" "{PMID:Devi 2008:18587492}" "HpyF10VI-" "557G>A" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.111908781C>T" "" "pathogenic" "" "0000435972" "0" "30" "11" "111779546" "111779546" "subst" "7.7158E-5" "00006" "CRYAB_000008" "g.111779546C>T" "" "{PMID:Inagaki 2006:16483541}" "" "" "expression cloning rat cardiomyocytes shows no cytoplasmic aggregates" "In vitro (cloned)" "" "" "0" "" "" "g.111908822C>T" "" "NA" "" "0000435973" "0" "50" "11" "111779828" "111779828" "subst" "0.00713551" "00006" "CRYAB_000013" "g.111779828C>T" "0.00-0.08" "" "" "" "" "Germline" "" "rs11214039" "0" "" "" "g.111909104C>T" "" "VUS" "" "0000435974" "0" "50" "11" "111779861" "111779861" "subst" "0.0176658" "00006" "CRYAB_000014" "g.111779861A>G" "0.03" "" "" "" "" "Germline" "" "rs41302377" "0" "" "" "g.111909137A>G" "" "VUS" "" "0000435975" "0" "50" "11" "111780837" "111780837" "subst" "0" "00006" "CRYAB_000016" "g.111780837G>A" "0.16-0.36" "" "" "" "" "Germline" "" "rs2070894" "0" "" "" "g.111910113G>A" "" "VUS" "" "0000435976" "0" "90" "11" "111779658" "111779658" "subst" "0" "00006" "CRYAB_000003" "g.111779658T>C" "" "{PMID:Vicart 1998:09731540}, {OMIM123590:0001}" "" "" "expression cloning C2.7 myoblasts/BHK 21 kidney smooth muscle cells;cytoplasmic/perinuclear aggregates cells" "In vitro (cloned)" "" "" "0" "" "" "g.111908934T>C" "" "NA" "" "0000435977" "0" "90" "11" "111779658" "111779658" "subst" "0" "00006" "CRYAB_000003" "g.111779658T>C" "" "{PMID:Fu 2003:12601044}, {OMIM123590:0001}" "" "" "YTH decreased interaction CRYAA, CRTAB, slightly increased with CRYBB2, CRYGC" "In vitro (cloned)" "" "" "0" "" "" "g.111908934T>C" "" "NA" "" "0000435978" "0" "90" "11" "111779658" "111779658" "subst" "0" "00006" "CRYAB_000003" "g.111779658T>C" "" "{PMID:Chavez Zobel 2003:12812987}, {OMIM123590:0001}" "" "" "impaired in vivo function/structure, highly reduced protection capacity against heat shock, abnormal supramolecular organization, accumulation inclusion bodies" "In vitro (cloned)" "" "" "0" "" "" "g.111908934T>C" "" "NA" "" "0000435979" "0" "90" "11" "111779658" "111779658" "subst" "0" "00006" "CRYAB_000003" "g.111779658T>C" "" "{PMID:Inagaki 2006:16483541}" "" "" "expression cloning rat cardiomyocytes shows cytoplasmic aggregates" "In vitro (cloned)" "" "" "0" "" "" "g.111908934T>C" "" "NA" "" "0000435980" "0" "90" "11" "111779598" "111779598" "subst" "0" "00006" "CRYAB_000004" "g.111779598C>T" "" "{PMID:Liu 2006:16505043}" "" "" "increased aggregation, more susceptible to thermal denaturation, lost chaperone-like activity (dominant negative)" "In vitro (cloned)" "" "" "0" "" "" "g.111908874C>T" "" "NA" "" "0000435981" "0" "90" "11" "111779546" "111779546" "subst" "7.7158E-5" "00006" "CRYAB_000008" "g.111779546C>T" "" "{PMID:Inagaki 2006:16483541}" "" "" "M2H decreased binding to titin/connectin heart-specific N2B domain" "In vitro (cloned)" "" "" "0" "" "" "g.111908822C>T" "" "NA" "" "0000542328" "0" "30" "11" "111779500" "111779500" "subst" "2.84299E-5" "02327" "CRYAB_000027" "g.111779500G>T" "" "" "" "CRYAB(NM_001885.3):c.516C>A (p.A172=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111908776G>T" "" "likely benign" "" "0000542329" "0" "10" "11" "111779506" "111779506" "subst" "4.46737E-5" "02330" "CRYAB_000028" "g.111779506G>A" "" "" "" "CRYAB(NM_001885.2):c.510C>T (p.T170=), CRYAB(NM_001885.3):c.510C>T (p.T170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111908782G>A" "" "benign" "" "0000542330" "0" "50" "11" "111779529" "111779529" "subst" "2.03056E-5" "02327" "CRYAB_000029" "g.111779529G>A" "" "" "" "CRYAB(NM_001885.1):c.487C>T (p.(Arg163Cys)), CRYAB(NM_001885.3):c.487C>T (p.R163C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111908805G>A" "" "VUS" "" "0000542331" "0" "50" "11" "111779649" "111779649" "subst" "2.03224E-5" "01943" "CRYAB_000032" "g.111779649G>A" "" "" "" "CRYAB(NM_001885.2):c.367C>T (p.R123W), CRYAB(NM_001885.3):c.367C>T (p.R123W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111908925G>A" "" "VUS" "" "0000542332" "0" "50" "11" "111779691" "111779691" "subst" "0" "02327" "CRYAB_000046" "g.111779691C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111908967C>G" "" "VUS" "" "0000542333" "0" "50" "11" "111781098" "111781098" "subst" "4.06065E-6" "02330" "CRYAB_000047" "g.111781098C>A" "" "" "" "CRYAB(NM_001885.1):c.277G>T (p.(Val93Leu)), CRYAB(NM_001885.2):c.277G>T (p.V93L), CRYAB(NM_001885.3):c.277G>T (p.V93L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111910374C>A" "" "VUS" "" "0000542334" "0" "30" "11" "111781098" "111781098" "subst" "4.06065E-6" "01943" "CRYAB_000047" "g.111781098C>A" "" "" "" "CRYAB(NM_001885.1):c.277G>T (p.(Val93Leu)), CRYAB(NM_001885.2):c.277G>T (p.V93L), CRYAB(NM_001885.3):c.277G>T (p.V93L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111910374C>A" "" "likely benign" "" "0000542335" "0" "50" "11" "111781098" "111781098" "subst" "4.06065E-6" "02325" "CRYAB_000047" "g.111781098C>A" "" "" "" "CRYAB(NM_001885.1):c.277G>T (p.(Val93Leu)), CRYAB(NM_001885.2):c.277G>T (p.V93L), CRYAB(NM_001885.3):c.277G>T (p.V93L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111910374C>A" "" "VUS" "" "0000542336" "0" "30" "11" "111781098" "111781098" "subst" "4.06065E-6" "02326" "CRYAB_000047" "g.111781098C>A" "" "" "" "CRYAB(NM_001885.1):c.277G>T (p.(Val93Leu)), CRYAB(NM_001885.2):c.277G>T (p.V93L), CRYAB(NM_001885.3):c.277G>T (p.V93L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111910374C>A" "" "likely benign" "" "0000542337" "0" "50" "11" "111782231" "111782231" "subst" "1.3321E-5" "02326" "CRYAB_000038" "g.111782231G>C" "" "" "" "CRYAB(NM_001885.3):c.201+17C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111911507G>C" "" "VUS" "" "0000542338" "0" "50" "11" "111782256" "111782256" "subst" "0" "02326" "CRYAB_000048" "g.111782256G>T" "" "" "" "CRYAB(NM_001885.3):c.193C>A (p.L65I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111911532G>T" "" "VUS" "" "0000542339" "0" "50" "11" "111782282" "111782282" "subst" "0" "02326" "CRYAB_000049" "g.111782282C>G" "" "" "" "CRYAB(NM_001885.3):c.167G>C (p.R56P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111911558C>G" "" "VUS" "" "0000542340" "0" "10" "11" "111782284" "111782284" "subst" "0.0154796" "02327" "CRYAB_000039" "g.111782284C>T" "" "" "" "CRYAB(NM_001885.2):c.165G>A (p.L55=), CRYAB(NM_001885.3):c.165G>A (p.L55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111911560C>T" "" "benign" "" "0000542341" "0" "50" "11" "111782301" "111782301" "subst" "0" "02325" "CRYAB_000050" "g.111782301G>A" "" "" "" "CRYAB(NM_001885.3):c.148C>T (p.R50W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111911577G>A" "" "VUS" "" "0000542342" "0" "50" "11" "111782333" "111782333" "subst" "0.000238608" "02325" "CRYAB_000051" "g.111782333G>A" "" "" "" "CRYAB(NM_001885.2):c.116C>T (p.P39L), CRYAB(NM_001885.3):c.116C>T (p.P39L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111911609G>A" "" "VUS" "" "0000542343" "0" "50" "11" "111782345" "111782345" "subst" "0" "02327" "CRYAB_000052" "g.111782345G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111911621G>A" "" "VUS" "" "0000542344" "0" "50" "11" "111782384" "111782384" "subst" "0" "02325" "CRYAB_000053" "g.111782384C>T" "" "" "" "CRYAB(NM_001885.3):c.65G>A (p.R22H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111911660C>T" "" "VUS" "" "0000613023" "0" "90" "11" "111779658" "111779658" "subst" "0" "02327" "CRYAB_000003" "g.111779658T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111908934T>C" "" "pathogenic" "" "0000613024" "0" "30" "11" "111781011" "111781011" "subst" "0" "02327" "CRYAB_000054" "g.111781011C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111910287C>T" "" "likely benign" "" "0000613025" "0" "50" "11" "111781098" "111781098" "subst" "4.06065E-6" "02327" "CRYAB_000047" "g.111781098C>A" "" "" "" "CRYAB(NM_001885.1):c.277G>T (p.(Val93Leu)), CRYAB(NM_001885.2):c.277G>T (p.V93L), CRYAB(NM_001885.3):c.277G>T (p.V93L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111910374C>A" "" "VUS" "" "0000613026" "0" "50" "11" "111782282" "111782282" "subst" "0" "02327" "CRYAB_000049" "g.111782282C>G" "" "" "" "CRYAB(NM_001885.3):c.167G>C (p.R56P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111911558C>G" "" "VUS" "" "0000613027" "0" "10" "11" "111782297" "111782297" "subst" "0.000562084" "02327" "CRYAB_000009" "g.111782297G>A" "" "" "" "CRYAB(NM_001885.2):c.152C>T (p.P51L), CRYAB(NM_001885.3):c.152C>T (p.P51L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111911573G>A" "" "benign" "" "0000613028" "0" "50" "11" "111782330" "111782330" "subst" "4.1111E-6" "02325" "CRYAB_000055" "g.111782330G>A" "" "" "" "CRYAB(NM_001885.3):c.119C>T (p.T40M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111911606G>A" "" "VUS" "" "0000613029" "0" "30" "11" "111782333" "111782333" "subst" "0.000238608" "02327" "CRYAB_000051" "g.111782333G>A" "" "" "" "CRYAB(NM_001885.2):c.116C>T (p.P39L), CRYAB(NM_001885.3):c.116C>T (p.P39L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111911609G>A" "" "likely benign" "" "0000613030" "0" "10" "11" "111782389" "111782389" "subst" "0.0049957" "02327" "CRYAB_000042" "g.111782389G>A" "" "" "" "CRYAB(NM_001885.2):c.60C>T (p.P20=), CRYAB(NM_001885.3):c.60C>T (p.P20=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111911665G>A" "" "benign" "" "0000613031" "0" "50" "11" "111782428" "111782428" "subst" "0" "02327" "CRYAB_000056" "g.111782428G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111911704G>C" "" "VUS" "" "0000622539" "0" "50" "11" "111782333" "111782333" "subst" "0.000238608" "01943" "CRYAB_000051" "g.111782333G>A" "" "" "" "CRYAB(NM_001885.2):c.116C>T (p.P39L), CRYAB(NM_001885.3):c.116C>T (p.P39L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111911609G>A" "" "VUS" "" "0000646953" "0" "90" "11" "111779691" "111779691" "subst" "0" "00006" "CRYAB_000046" "g.111779691C>G" "" "{PMID:Evilä 2016:26627873}" "" "" "" "Germline" "" "" "0" "" "" "g.111908967C>G" "" "pathogenic (dominant)" "" "0000656675" "0" "30" "11" "111779635" "111779635" "subst" "0" "01943" "CRYAB_000057" "g.111779635A>G" "" "" "" "CRYAB(NM_001885.2):c.381T>C (p.D127=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111908911A>G" "" "likely benign" "" "0000679047" "0" "50" "11" "111779529" "111779529" "subst" "2.03056E-5" "02330" "CRYAB_000029" "g.111779529G>A" "" "" "" "CRYAB(NM_001885.1):c.487C>T (p.(Arg163Cys)), CRYAB(NM_001885.3):c.487C>T (p.R163C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679048" "0" "50" "11" "111782231" "111782231" "subst" "1.3321E-5" "02325" "CRYAB_000038" "g.111782231G>C" "" "" "" "CRYAB(NM_001885.3):c.201+17C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679049" "0" "50" "11" "111782430" "111782430" "subst" "0" "02327" "CRYAB_000043" "g.111782430G>A" "" "" "" "CRYAB(NM_001885.2):c.19C>T (p.H7Y), CRYAB(NM_001885.3):c.19C>T (p.H7Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000697453" "0" "70" "11" "111782283" "111782283" "subst" "0" "00006" "CRYAB_000023" "g.111782283G>A" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.111911559G>A" "" "likely pathogenic" "" "0000700609" "0" "50" "11" "111782325" "111782325" "subst" "8.2054E-6" "00006" "CRYAB_000058" "g.111782325T>C" "1/304 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.111911601T>C" "" "VUS" "" "0000701505" "0" "50" "11" "111779529" "111779529" "subst" "2.03056E-5" "00006" "CRYAB_000029" "g.111779529G>A" "1/121 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.111908805G>A" "" "VUS" "" "0000723186" "0" "50" "11" "111781109" "111781109" "subst" "0" "01943" "CRYAB_000059" "g.111781109A>T" "" "" "" "CRYAB(NM_001885.2):c.266T>A (p.L89H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723187" "0" "50" "11" "111782430" "111782430" "subst" "0" "02330" "CRYAB_000043" "g.111782430G>A" "" "" "" "CRYAB(NM_001885.2):c.19C>T (p.H7Y), CRYAB(NM_001885.3):c.19C>T (p.H7Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000734782" "0" "30" "11" "111783691" "111783691" "subst" "0" "00000" "CRYAB_000060" "g.111783691T>C" "7/25 families" "{PMID:Maranhao 2015:26352687}" "" "HSPB2:c.94+44T>C" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000734783" "0" "30" "11" "111783691" "111783691" "subst" "0" "00000" "CRYAB_000060" "g.111783691T>C" "7/25 families" "{PMID:Maranhao 2015:26352687}" "" "CRYAB:c.-290-u953A>G" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000804866" "0" "50" "11" "111781109" "111781109" "subst" "0" "02327" "CRYAB_000059" "g.111781109A>T" "" "" "" "CRYAB(NM_001885.2):c.266T>A (p.L89H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804867" "0" "30" "11" "111782431" "111782431" "subst" "0" "01943" "CRYAB_000061" "g.111782431G>T" "" "" "" "CRYAB(NM_001885.2):c.18C>A (p.H6Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000814379" "0" "70" "11" "111781080" "111781080" "subst" "0" "00000" "CRYAB_000062" "g.111781080C>A" "" "{PMID:Lenassi 2020:31848469}" "" "CRYAB c.295G>T p.(Glu99Ter) het" "heterozygous" "Germline" "?" "" "0" "" "" "g.111910356C>A" "" "likely pathogenic" "ACMG" "0000814403" "0" "50" "11" "111779556" "111779556" "subst" "0.000905532" "00000" "CRYAB_000017" "g.111779556C>T" "" "{PMID:Lenassi 2020:31848469}" "" "CRYAB c.460G>A p.(Gly154Ser) het" "heterozygous" "Germline" "?" "" "0" "" "" "g.111908832C>T" "" "VUS" "ACMG" "0000824286" "0" "70" "11" "111779658" "111779658" "subst" "0" "00000" "CRYAB_000003" "g.111779658T>C" "" "{PMID:Bell 2021:33494148}" "" "CRYAB c.358A>G, p.(Arg474Trp)" "heterozygous, present in 2 affected relatives" "Germline" "yes" "" "0" "" "" "g.111908934T>C" "" "likely pathogenic" "" "0000824315" "0" "70" "11" "111779658" "111779658" "subst" "0" "00000" "CRYAB_000003" "g.111779658T>C" "" "{PMID:Bell 2021:33494148}" "" "CRYAB c.358A>G, p.(Arg474Trp)" "heterozygous, present in 2 affected relatives" "Germline" "yes" "" "0" "" "" "g.111908934T>C" "" "likely pathogenic" "" "0000824316" "0" "70" "11" "111779658" "111779658" "subst" "0" "00000" "CRYAB_000003" "g.111779658T>C" "" "{PMID:Bell 2021:33494148}" "" "CRYAB c.358A>G, p.(Arg474Trp)" "heterozygous, present in 2 affected relatives" "Germline" "yes" "" "0" "" "" "g.111908934T>C" "" "likely pathogenic" "" "0000852749" "0" "10" "11" "111779469" "111779469" "subst" "0" "02330" "CRYAB_000063" "g.111779469G>A" "" "" "" "CRYAB(NM_001885.3):c.*19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000852750" "0" "30" "11" "111783826" "111783826" "subst" "0" "02326" "CRYAB_000064" "g.111783826G>C" "" "" "" "CRYAB(NM_001885.3):c.-199+3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862290" "0" "30" "11" "111779556" "111779556" "subst" "0.000905532" "01804" "CRYAB_000017" "g.111779556C>T" "" "" "" "CRYAB(NM_001289807.1):c.460G>A (p.(Gly154Ser)), CRYAB(NM_001885.2):c.460G>A (p.G154S), CRYAB(NM_001885.3):c.460G>A (p.G154S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913491" "0" "50" "11" "111781153" "111781153" "subst" "0" "02325" "CRYAB_000065" "g.111781153C>G" "" "" "" "CRYAB(NM_001885.3):c.222G>C (p.R74S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913492" "0" "30" "11" "111784258" "111784258" "subst" "8.12328E-6" "02325" "CRYAB_000066" "g.111784258G>A" "" "" "" "CRYAB(NM_001368245.1):c.-198-1612C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929797" "0" "50" "11" "111779627" "111779627" "subst" "0" "02325" "CRYAB_000067" "g.111779627G>C" "" "" "" "CRYAB(NM_001885.3):c.389C>G (p.P130R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000944685" "11" "90" "11" "111779658" "111779658" "subst" "0" "00006" "CRYAB_000003" "g.111779658T>C" "" "{PMID:Cortese 2023:37772343}" "" "" "" "Germline" "yes" "" "0" "" "" "g.111908934T>C" "" "likely pathogenic (dominant)" "" "0000944686" "21" "90" "11" "111779658" "111779658" "subst" "0" "00006" "CRYAB_000003" "g.111779658T>C" "" "{PMID:Cortese 2023:37772343}" "" "" "" "Germline" "yes" "" "0" "" "" "g.111908934T>C" "" "pathogenic (dominant)" "" "0000944788" "3" "90" "11" "111782283" "111782283" "subst" "0" "00006" "CRYAB_000023" "g.111782283G>A" "" "{PMID:Aldahmesh 2012:22935719}, {PMID:Khan 2015:26622071}" "" "" "marked variable expressivity" "Germline" "" "" "0" "" "" "g.111911559G>A" "" "pathogenic (recessive)" "" "0000945995" "0" "90" "11" "111779691" "111779691" "subst" "0" "00006" "CRYAB_000046" "g.111779691C>G" "" "{PMID:Westra 2019:31127727}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.111908967C>G" "" "pathogenic" "" "0000946140" "0" "30" "11" "111779649" "111779649" "subst" "2.03224E-5" "00006" "CRYAB_000032" "g.111779649G>A" "" "{PMID:Westra 2019:31127727}" "" "" "not present in affected mother" "Germline" "" "" "0" "" "" "g.111908925G>A" "" "likely benign" "" "0000954803" "11" "50" "11" "111779556" "111779556" "subst" "0.000905532" "00006" "CRYAB_000017" "g.111779556C>T" "" "{PMID:Ma 2016:26694549}" "" "" "not in affected mother, present in unaffected father" "Germline" "" "rs150516929" "0" "" "" "g.111908832C>T" "" "VUS" "" "0000954827" "11" "70" "11" "111781055" "111781055" "subst" "0" "00006" "CRYAB_000068" "g.111781055C>A" "" "{PMID:Ma 2016:26694549}" "" "" "" "Germline" "" "" "0" "" "" "g.111910331C>A" "" "likely pathogenic (dominant)" "" "0000954870" "3" "90" "11" "111782283" "111782283" "subst" "0" "00006" "CRYAB_000023" "g.111782283G>A" "" "{PMID:Patel 2017:27878435}" "" "" "" "Germline" "yes" "" "0" "" "" "g.111911559G>A" "" "pathogenic (recessive)" "" "0000957564" "1" "90" "11" "111781170" "111781170" "subst" "9.74651E-5" "00006" "CRYAB_000069" "g.111781170G>A" "" "{PMID:Sun 2011:21866213}" "" "" "" "Germline" "yes" "" "0" "" "" "g.111910446G>A" "" "pathogenic (dominant)" "" "0000957725" "0" "50" "11" "111782333" "111782333" "subst" "0.000238608" "00006" "CRYAB_000051" "g.111782333G>A" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.111911609G>A" "" "VUS" "" "0000966142" "0" "50" "11" "111782283" "111782283" "subst" "0" "02325" "CRYAB_000023" "g.111782283G>A" "" "" "" "CRYAB(NM_001885.3):c.166C>T (p.R56W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998737" "0" "30" "11" "111779529" "111779529" "subst" "2.03056E-5" "01804" "CRYAB_000029" "g.111779529G>A" "" "" "" "CRYAB(NM_001885.1):c.487C>T (p.(Arg163Cys)), CRYAB(NM_001885.3):c.487C>T (p.R163C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998738" "0" "50" "11" "111781098" "111781098" "subst" "4.06065E-6" "01804" "CRYAB_000047" "g.111781098C>A" "" "" "" "CRYAB(NM_001885.1):c.277G>T (p.(Val93Leu)), CRYAB(NM_001885.2):c.277G>T (p.V93L), CRYAB(NM_001885.3):c.277G>T (p.V93L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014748" "0" "50" "11" "111781056" "111781056" "subst" "4.06098E-6" "02325" "CRYAB_000070" "g.111781056G>A" "" "" "" "CRYAB(NM_001885.3):c.319C>T (p.R107C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025902" "0" "30" "11" "111782389" "111782389" "subst" "0.0049957" "01943" "CRYAB_000042" "g.111782389G>A" "" "" "" "CRYAB(NM_001885.2):c.60C>T (p.P20=), CRYAB(NM_001885.3):c.60C>T (p.P20=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025903" "0" "50" "11" "111782442" "111782442" "subst" "1.05499E-5" "02326" "CRYAB_000044" "g.111782442T>C" "" "" "" "CRYAB(NM_001885.2):c.7A>G (p.I3V), CRYAB(NM_001885.3):c.7A>G (p.I3V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038205" "0" "50" "11" "111779576" "111779576" "subst" "4.06078E-6" "02325" "CRYAB_000071" "g.111779576C>A" "" "" "" "CRYAB(NM_001885.3):c.440G>T (p.G147V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038206" "0" "50" "11" "111782349" "111782349" "subst" "0" "01804" "CRYAB_000072" "g.111782349C>T" "" "" "" "CRYAB(NM_001289808.2):c.100G>A (p.(Glu34Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes CRYAB ## Count = 156 "{{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}}" "0000115968" "00005709" "70" "59" "0" "59" "0" "c.59C>G" "r.(?)" "p.(Pro20Arg)" "1" "0000115969" "00005709" "70" "59" "0" "59" "0" "c.59C>G" "r.(?)" "p.(Pro20Arg)" "1" "0000115970" "00005709" "70" "59" "0" "59" "0" "c.59C>G" "r.(?)" "p.(Pro20Arg)" "1" "0000115971" "00005709" "70" "59" "0" "59" "0" "c.59C>G" "r.(?)" "p.(Pro20Arg)" "1" "0000115972" "00005709" "70" "59" "0" "59" "0" "c.59C>G" "r.(?)" "p.(Pro20Arg)" "1" "0000115973" "00005709" "70" "59" "0" "59" "0" "c.59C>G" "r.(?)" "p.(Pro20Arg)" "1" "0000115976" "00005709" "70" "166" "0" "166" "0" "c.166C>T" "r.(?)" "p.(Arg56Trp)" "1" "0000115977" "00005709" "70" "166" "0" "166" "0" "c.166C>T" "r.(?)" "p.(Arg56Trp)" "1" "0000115978" "00005709" "70" "166" "0" "166" "0" "c.166C>T" "r.(?)" "p.(Arg56Trp)" "1" "0000115979" "00005709" "70" "166" "0" "166" "0" "c.166C>T" "r.(?)" "p.(Arg56Trp)" "1" "0000115980" "00005709" "70" "166" "0" "166" "0" "c.166C>T" "r.(?)" "p.(Arg56Trp)" "1" "0000115982" "00005709" "70" "34" "0" "34" "0" "c.34C>T" "r.(?)" "p.(Arg12Cys)" "1" "0000115983" "00005709" "70" "34" "0" "34" "0" "c.34C>T" "r.(?)" "p.(Arg12Cys)" "1" "0000167135" "00005709" "90" "326" "0" "326" "0" "c.326A>G" "r.(?)" "p.(Asp109Gly)" "3" "0000246976" "00005709" "10" "324" "4" "324" "4" "c.324+4T>G" "r.spl?" "p.?" "" "0000247847" "00005709" "10" "324" "4" "324" "4" "c.324+4T>G" "r.spl?" "p.?" "" "0000250629" "00005709" "10" "324" "4" "324" "4" "c.324+4T>G" "r.spl?" "p.?" "" "0000252981" "00005709" "10" "324" "4" "324" "4" "c.324+4T>G" "r.spl?" "p.?" "" "0000265018" "00005709" "10" "534" "0" "534" "0" "c.*6C>T" "r.(=)" "p.(=)" "" "0000265019" "00005709" "10" "152" "0" "152" "0" "c.152C>T" "r.(?)" "p.(Pro51Leu)" "" "0000265020" "00005709" "10" "165" "0" "165" "0" "c.165G>A" "r.(?)" "p.(Leu55=)" "" "0000265021" "00005709" "50" "201" "17" "201" "17" "c.201+17C>G" "r.(=)" "p.(=)" "" "0000265022" "00005709" "50" "367" "0" "367" "0" "c.367C>T" "r.(?)" "p.(Arg123Trp)" "" "0000265023" "00005709" "10" "460" "0" "460" "0" "c.460G>A" "r.(?)" "p.(Gly154Ser)" "" "0000265024" "00005709" "50" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Arg157Cys)" "" "0000265025" "00005709" "10" "516" "0" "516" "0" "c.516C>A" "r.(?)" "p.(Ala172=)" "" "0000265026" "00005709" "10" "60" "0" "60" "0" "c.60C>T" "r.(?)" "p.(Pro20=)" "" "0000265027" "00005709" "10" "84" "0" "84" "0" "c.84C>T" "r.(?)" "p.(Phe28=)" "" "0000267132" "00005709" "30" "-21" "0" "-21" "0" "c.-21C>T" "r.(?)" "p.(=)" "" "0000267133" "00005709" "30" "152" "0" "152" "0" "c.152C>T" "r.(?)" "p.(Pro51Leu)" "" "0000267134" "00005709" "30" "165" "0" "165" "0" "c.165G>A" "r.(?)" "p.(Leu55=)" "" "0000267135" "00005709" "50" "367" "0" "367" "0" "c.367C>T" "r.(?)" "p.(Arg123Trp)" "" "0000267136" "00005709" "30" "460" "0" "460" "0" "c.460G>A" "r.(?)" "p.(Gly154Ser)" "" "0000267137" "00005709" "50" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Arg163Cys)" "" "0000267138" "00005709" "30" "516" "0" "516" "0" "c.516C>A" "r.(?)" "p.(Ala172=)" "" "0000267139" "00005709" "30" "60" "0" "60" "0" "c.60C>T" "r.(?)" "p.(Pro20=)" "" "0000270597" "00005709" "30" "152" "0" "152" "0" "c.152C>T" "r.(?)" "p.(Pro51Leu)" "" "0000270598" "00005709" "10" "165" "0" "165" "0" "c.165G>A" "r.(?)" "p.(Leu55=)" "" "0000270599" "00005709" "70" "325" "0" "325" "0" "c.325G>A" "r.(?)" "p.(Asp109Asn)" "" "0000270600" "00005709" "30" "367" "0" "367" "0" "c.367C>T" "r.(?)" "p.(Arg123Trp)" "" "0000270601" "00005709" "30" "460" "0" "460" "0" "c.460G>A" "r.(?)" "p.(Gly154Ser)" "" "0000270602" "00005709" "30" "516" "0" "516" "0" "c.516C>A" "r.(?)" "p.(Ala172=)" "" "0000270603" "00005709" "90" "527" "0" "527" "0" "c.527A>G" "r.(?)" "p.(Ter176TrpextTer19)" "" "0000270604" "00005709" "10" "60" "0" "60" "0" "c.60C>T" "r.(?)" "p.(Pro20=)" "" "0000274441" "00005709" "30" "152" "0" "152" "0" "c.152C>T" "r.(?)" "p.(Pro51Leu)" "" "0000274442" "00005709" "10" "165" "0" "165" "0" "c.165G>A" "r.(?)" "p.(Leu55=)" "" "0000274443" "00005709" "30" "19" "0" "19" "0" "c.19C>T" "r.(?)" "p.(His7Tyr)" "" "0000274444" "00005709" "70" "324" "1" "324" "1" "c.324+1G>T" "r.spl?" "p.?" "" "0000274445" "00005709" "30" "325" "-18" "325" "-18" "c.325-18C>T" "r.(=)" "p.(=)" "" "0000274446" "00005709" "30" "460" "0" "460" "0" "c.460G>A" "r.(?)" "p.(Gly154Ser)" "" "0000274447" "00005709" "30" "510" "0" "510" "0" "c.510C>T" "r.(?)" "p.(Thr170=)" "" "0000274448" "00005709" "30" "7" "0" "7" "0" "c.7A>G" "r.(?)" "p.(Ile3Val)" "" "0000341806" "00005709" "50" "367" "0" "367" "0" "c.367C>T" "r.(?)" "p.(Arg123Trp)" "" "0000349028" "00005709" "50" "133" "0" "133" "0" "c.133A>G" "r.(?)" "p.(Ser45Gly)" "" "0000435950" "00005709" "10" "324" "4" "324" "4" "c.324+4T>G" "r.spl?" "p.(?)" "2i" "0000435951" "00005709" "50" "122" "0" "122" "0" "c.122C>A" "r.(?)" "p.(Ser41Tyr)" "1" "0000435952" "00005709" "50" "152" "0" "152" "0" "c.152C>T" "r.(?)" "p.(Pro51Leu)" "1" "0000435953" "00005709" "50" "-249" "0" "-249" "0" "c.-249C>G" "r.(?)" "p.(=)" "_1" "0000435954" "00005709" "50" "-249" "0" "-249" "0" "c.-249C>G" "r.(?)" "p.(=)" "_1" "0000435955" "00005709" "50" "-249" "0" "-249" "0" "c.-249C>G" "r.(?)" "p.(=)" "_1" "0000435956" "00005709" "50" "-650" "0" "-650" "0" "c.-650C>G" "r.(?)" "p.(=)" "_1" "0000435957" "00005709" "50" "-650" "0" "-650" "0" "c.-650C>G" "r.(?)" "p.(=)" "_1" "0000435958" "00005709" "50" "-652" "0" "-652" "0" "c.-652A>G" "r.(?)" "p.(=)" "_1" "0000435959" "00005709" "70" "-650" "0" "-650" "0" "c.-650C>G" "r.(?)" "p.(=)" "_1" "0000435960" "00005709" "70" "-652" "0" "-652" "0" "c.-652A>G" "r.(?)" "p.(=)" "_1" "0000435961" "00005709" "70" "404" "0" "404" "0" "c.404C>A" "r.(?)" "p.(Ser135*)" "3" "0000435962" "00005709" "90" "58" "0" "58" "0" "c.58C>T" "r.(?)" "p.(Pro20Ser)" "1" "0000435963" "00005709" "90" "358" "0" "358" "0" "c.358A>G" "r.358a>g" "p.Arg120Gly" "3" "0000435964" "00005709" "90" "418" "0" "418" "0" "c.418G>A" "r.(?)" "p.(Asp140Asn)" "3" "0000435965" "00005709" "90" "450" "0" "450" "0" "c.450del" "r.(?)" "p.(Lys150Asnfs36*)" "3" "0000435966" "00005709" "90" "451" "0" "451" "0" "c.451C>T" "r.451c>u" "p.Gln151*" "3" "0000435967" "00005709" "90" "464" "0" "465" "0" "c.464_465del" "r.464_465del" "p.Pro155Argfs9*" "3" "0000435968" "00005709" "90" "470" "0" "470" "0" "c.470G>A" "r.(?)" "p.(Arg157His)" "3" "0000435969" "00005709" "90" "460" "0" "460" "0" "c.460G>A" "r.(?)" "p.(Gly154Ser)" "3" "0000435970" "00005709" "90" "460" "0" "460" "0" "c.460G>A" "r.(?)" "p.(Gly154Ser)" "3" "0000435971" "00005709" "90" "511" "0" "511" "0" "c.511G>A" "r.(?)" "p.(Ala171Thr)" "3" "0000435972" "00005709" "30" "470" "0" "470" "0" "c.470G>A" "r.470g>a" "p.Arg157His" "3" "0000435973" "00005709" "50" "325" "-137" "325" "-137" "c.325-137G>A" "r.(?)" "p.(=)" "2i" "0000435974" "00005709" "50" "325" "-170" "325" "-170" "c.325-170T>C" "r.(?)" "p.(=)" "2i" "0000435975" "00005709" "50" "324" "214" "324" "214" "c.324+214C>T" "r.(?)" "p.(=)" "2i" "0000435976" "00005709" "90" "358" "0" "358" "0" "c.358A>G" "r.358a>g" "p.Arg120Gly" "3" "0000435977" "00005709" "90" "358" "0" "358" "0" "c.358A>G" "r.358a>g" "p.Arg120Gly" "3" "0000435978" "00005709" "90" "358" "0" "358" "0" "c.358A>G" "r.358a>g" "p.Arg120Gly" "3" "0000435979" "00005709" "90" "358" "0" "358" "0" "c.358A>G" "r.358a>g" "p.Arg120Gly" "3" "0000435980" "00005709" "90" "418" "0" "418" "0" "c.418G>A" "r.418g>A" "p.Asp140Asn" "3" "0000435981" "00005709" "90" "470" "0" "470" "0" "c.470G>A" "r.470g>a" "p.Arg157His" "3" "0000542328" "00005709" "30" "516" "0" "516" "0" "c.516C>A" "r.(?)" "p.(Ala172=)" "" "0000542329" "00005709" "10" "510" "0" "510" "0" "c.510C>T" "r.(?)" "p.(Thr170=)" "" "0000542330" "00005709" "50" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Arg163Cys)" "" "0000542331" "00005709" "50" "367" "0" "367" "0" "c.367C>T" "r.(?)" "p.(Arg123Trp)" "" "0000542332" "00005709" "50" "325" "0" "325" "0" "c.325G>C" "r.(?)" "p.(Asp109His)" "" "0000542333" "00005709" "50" "277" "0" "277" "0" "c.277G>T" "r.(?)" "p.(Val93Leu)" "" "0000542334" "00005709" "30" "277" "0" "277" "0" "c.277G>T" "r.(?)" "p.(Val93Leu)" "" "0000542335" "00005709" "50" "277" "0" "277" "0" "c.277G>T" "r.(?)" "p.(Val93Leu)" "" "0000542336" "00005709" "30" "277" "0" "277" "0" "c.277G>T" "r.(?)" "p.(Val93Leu)" "" "0000542337" "00005709" "50" "201" "17" "201" "17" "c.201+17C>G" "r.(=)" "p.(=)" "" "0000542338" "00005709" "50" "193" "0" "193" "0" "c.193C>A" "r.(?)" "p.(Leu65Ile)" "" "0000542339" "00005709" "50" "167" "0" "167" "0" "c.167G>C" "r.(?)" "p.(Arg56Pro)" "" "0000542340" "00005709" "10" "165" "0" "165" "0" "c.165G>A" "r.(?)" "p.(Leu55=)" "" "0000542341" "00005709" "50" "148" "0" "148" "0" "c.148C>T" "r.(?)" "p.(Arg50Trp)" "" "0000542342" "00005709" "50" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Pro39Leu)" "" "0000542343" "00005709" "50" "104" "0" "104" "0" "c.104C>T" "r.(?)" "p.(Ser35Phe)" "" "0000542344" "00005709" "50" "65" "0" "65" "0" "c.65G>A" "r.(?)" "p.(Arg22His)" "" "0000613023" "00005709" "90" "358" "0" "358" "0" "c.358A>G" "r.(?)" "p.(Arg120Gly)" "" "0000613024" "00005709" "30" "324" "40" "324" "40" "c.324+40G>A" "r.(=)" "p.(=)" "" "0000613025" "00005709" "50" "277" "0" "277" "0" "c.277G>T" "r.(?)" "p.(Val93Leu)" "" "0000613026" "00005709" "50" "167" "0" "167" "0" "c.167G>C" "r.(?)" "p.(Arg56Pro)" "" "0000613027" "00005709" "10" "152" "0" "152" "0" "c.152C>T" "r.(?)" "p.(Pro51Leu)" "" "0000613028" "00005709" "50" "119" "0" "119" "0" "c.119C>T" "r.(?)" "p.(Thr40Met)" "" "0000613029" "00005709" "30" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Pro39Leu)" "" "0000613030" "00005709" "10" "60" "0" "60" "0" "c.60C>T" "r.(?)" "p.(Pro20=)" "" "0000613031" "00005709" "50" "21" "0" "21" "0" "c.21C>G" "r.(?)" "p.(His7Gln)" "" "0000622539" "00005709" "50" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Pro39Leu)" "" "0000646953" "00005709" "90" "325" "0" "325" "0" "c.325G>C" "r.(?)" "p.(Asp109His)" "4" "0000656675" "00005709" "30" "381" "0" "381" "0" "c.381T>C" "r.(?)" "p.(Asp127=)" "" "0000679047" "00005709" "50" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Arg163Cys)" "" "0000679048" "00005709" "50" "201" "17" "201" "17" "c.201+17C>G" "r.(=)" "p.(=)" "" "0000679049" "00005709" "50" "19" "0" "19" "0" "c.19C>T" "r.(?)" "p.(His7Tyr)" "" "0000697453" "00005709" "70" "166" "0" "166" "0" "c.166C>T" "r.(?)" "p.(Arg56Trp)" "" "0000700609" "00005709" "50" "124" "0" "124" "0" "c.124A>G" "r.(?)" "p.(Thr42Ala)" "" "0000701505" "00005709" "50" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Arg163Cys)" "" "0000723186" "00005709" "50" "266" "0" "266" "0" "c.266T>A" "r.(?)" "p.(Leu89His)" "" "0000723187" "00005709" "50" "19" "0" "19" "0" "c.19C>T" "r.(?)" "p.(His7Tyr)" "" "0000734782" "00005709" "30" "-1243" "0" "-1243" "0" "c.-1243A>G" "r.(=)" "p.(=)" "" "0000734783" "00005709" "30" "-1243" "0" "-1243" "0" "c.-1243A>G" "r.(=)" "p.(=)" "" "0000804866" "00005709" "50" "266" "0" "266" "0" "c.266T>A" "r.(?)" "p.(Leu89His)" "" "0000804867" "00005709" "30" "18" "0" "18" "0" "c.18C>A" "r.(?)" "p.(His6Gln)" "" "0000814379" "00005709" "70" "295" "0" "295" "0" "c.295G>T" "r.(?)" "p.(Glu99Ter)" "" "0000814403" "00005709" "50" "460" "0" "460" "0" "c.460G>A" "r.(?)" "p.(Gly154Ser)" "" "0000824286" "00005709" "70" "358" "0" "358" "0" "c.358A>G" "r.(?)" "p.(Arg120Gly)" "" "0000824315" "00005709" "70" "358" "0" "358" "0" "c.358A>G" "r.(?)" "p.(Arg120Gly)" "" "0000824316" "00005709" "70" "358" "0" "358" "0" "c.358A>G" "r.(?)" "p.(Arg120Gly)" "" "0000852749" "00005709" "10" "547" "0" "547" "0" "c.*19C>T" "r.(=)" "p.(=)" "" "0000852750" "00005709" "30" "-1378" "0" "-1378" "0" "c.-1378C>G" "r.(?)" "p.(=)" "" "0000862290" "00005709" "30" "460" "0" "460" "0" "c.460G>A" "r.(?)" "p.(Gly154Ser)" "" "0000913491" "00005709" "50" "222" "0" "222" "0" "c.222G>C" "r.(?)" "p.(Arg74Ser)" "" "0000913492" "00005709" "30" "-1810" "0" "-1810" "0" "c.-1810C>T" "r.(?)" "p.(=)" "" "0000929797" "00005709" "50" "389" "0" "389" "0" "c.389C>G" "r.(?)" "p.(Pro130Arg)" "" "0000944685" "00005709" "90" "358" "0" "358" "0" "c.358A>G" "r.(?)" "p.(Arg120Gly)" "" "0000944686" "00005709" "90" "358" "0" "358" "0" "c.358A>G" "r.(?)" "p.(Arg120Gly)" "" "0000944788" "00005709" "90" "166" "0" "166" "0" "c.166C>T" "r.(?)" "p.(Arg56Trp)" "" "0000945995" "00005709" "90" "325" "0" "325" "0" "c.325G>C" "r.(?)" "p.(Asp109His)" "" "0000946140" "00005709" "30" "367" "0" "367" "0" "c.367C>T" "r.(?)" "p.(Arg123Trp)" "" "0000954803" "00005709" "50" "460" "0" "460" "0" "c.460G>A" "r.(?)" "p.(Gly154Ser)" "" "0000954827" "00005709" "70" "320" "0" "320" "0" "c.320G>T" "r.(?)" "p.(Arg107Leu)" "" "0000954870" "00005709" "90" "166" "0" "166" "0" "c.166C>T" "r.(?)" "p.(Arg56Trp)" "" "0000957564" "00005709" "90" "205" "0" "205" "0" "c.205C>T" "r.(?)" "p.(Arg69Cys)" "" "0000957725" "00005709" "50" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Pro39Leu)" "" "0000966142" "00005709" "50" "166" "0" "166" "0" "c.166C>T" "r.(?)" "p.(Arg56Trp)" "" "0000998737" "00005709" "30" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Arg163Cys)" "" "0000998738" "00005709" "50" "277" "0" "277" "0" "c.277G>T" "r.(?)" "p.(Val93Leu)" "" "0001014748" "00005709" "50" "319" "0" "319" "0" "c.319C>T" "r.(?)" "p.(Arg107Cys)" "" "0001025902" "00005709" "30" "60" "0" "60" "0" "c.60C>T" "r.(?)" "p.(Pro20=)" "" "0001025903" "00005709" "50" "7" "0" "7" "0" "c.7A>G" "r.(?)" "p.(Ile3Val)" "" "0001038205" "00005709" "50" "440" "0" "440" "0" "c.440G>T" "r.(?)" "p.(Gly147Val)" "" "0001038206" "00005709" "50" "100" "0" "100" "0" "c.100G>A" "r.(?)" "p.(Glu34Lys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 57 "{{screeningid}}" "{{variantid}}" "0000072408" "0000115968" "0000072409" "0000115969" "0000072410" "0000115970" "0000072411" "0000115971" "0000072412" "0000115972" "0000072413" "0000115973" "0000072415" "0000115976" "0000072417" "0000115977" "0000072418" "0000115978" "0000072419" "0000115979" "0000072420" "0000115980" "0000072422" "0000115982" "0000072423" "0000115983" "0000103666" "0000167135" "0000206398" "0000435950" "0000206399" "0000435951" "0000206400" "0000435952" "0000206401" "0000435953" "0000206402" "0000435954" "0000206403" "0000435955" "0000206403" "0000435957" "0000206404" "0000435956" "0000206405" "0000435958" "0000206406" "0000435959" "0000206407" "0000435960" "0000206408" "0000435961" "0000206409" "0000435962" "0000206410" "0000435963" "0000206411" "0000435964" "0000206412" "0000435965" "0000206413" "0000435966" "0000206414" "0000435967" "0000206415" "0000435968" "0000206416" "0000435969" "0000206417" "0000435970" "0000206418" "0000435971" "0000290303" "0000646953" "0000315364" "0000697453" "0000318003" "0000700609" "0000318899" "0000701505" "0000335870" "0000734782" "0000335871" "0000734783" "0000386699" "0000814379" "0000386723" "0000814403" "0000393524" "0000824286" "0000393545" "0000824315" "0000393546" "0000824316" "0000443284" "0000944685" "0000443285" "0000944686" "0000443375" "0000944788" "0000444138" "0000945995" "0000444284" "0000946140" "0000446456" "0000954803" "0000446485" "0000954827" "0000446526" "0000954870" "0000448167" "0000957564" "0000448318" "0000957725"