### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FLNC) # 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}}" "FLNC" "filamin C, gamma" "7" "q32-q35" "no" "LRG_870" "UD_132084434602" "" "https://www.LOVD.nl/FLNC" "" "1" "3756" "2318" "102565" "1" "1" "1" "1" "This database is one of the gene variant databases from the \"Leiden Muscular Dystrophy pages\" (LMDp)." "" "g" "http://databases.lovd.nl/shared/refseq/FLNC_NM_001458.4_codingDNA.html" "1" "" "This database is one of the gene variant databases from the \"Leiden Muscular Dystrophy pages\" (LMDp)." "-1" "" "-1" "00001" "2010-03-01 00:00:00" "00006" "2020-01-10 16:11:13" "00000" "2025-09-26 11:29:03" ## 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}}" "00024072" "FLNC" "transcript variant 1" "001" "NM_001458.4" "" "NP_001449.3" "" "" "" "-209" "8929" "8178" "128470483" "128499328" "00006" "2015-10-31 12:22:59" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 24 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00096" "FTD" "dementia, frontotemporal (FTD)" "AD" "600274" "" "" "" "00008" "2012-12-10 14:01:50" "00006" "2021-12-10 21:51:32" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "00318" "cancer, breast" "cancer, breast" "" "" "" "" "" "00006" "2014-02-02 14:42:53" "00006" "2019-08-28 08:24:47" "00352" "CMD" "cardiomyopathy, dilated (CMD)" "" "" "" "" "" "00006" "2014-03-13 16:16:15" "00006" "2015-03-06 17:18:25" "00385" "DA" "arthrogryposis, distal (DA)" "" "" "" "" "" "00006" "2014-05-27 12:44:13" "00006" "2015-12-08 23:59:30" "01505" "Picks" "Pick disease" "AD" "172700" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02855" "MFM5" "myopathy, myofibrillar, type 5 (MFM-5, filamin C related)" "AD" "609524" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03535" "MPD4" "myopathy, distal, type 4 (MPD-4)" "AD" "614065" "" "" "" "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" "04246" "IBD" "bowel disease, inflammatory (IBD)" "" "" "" "" "" "00006" "2015-05-01 23:30:32" "" "" "05096" "MFM;IBM1" "myopathy, myofibrillar (MFM, myopathy, inclusion body, type 1 (IBM-1))" "" "" "" "" "" "00006" "2015-10-31 12:57:42" "00006" "2021-12-11 13:56:28" "05098" "RCM" "cardiomyopathy, restrictive (RCM)" "" "" "" "" "" "00006" "2015-10-31 13:09:49" "00006" "2018-12-27 11:15:08" "05105" "IBM" "myopathy, inclusion body (IBM)" "" "" "" "" "" "00006" "2015-12-08 01:36:43" "" "" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "05158" "ARVC" "cardiomyopathy, ventricular, right, arrhythmogenic (ARVC)" "" "" "" "" "" "00006" "2016-04-19 22:00:09" "" "" "05324" "DMD" "dystrophy, muscular, Duchenne type (DMD)" "XLR" "310200" "" "" "" "00006" "2017-09-01 17:41:21" "00006" "2021-12-10 21:51:32" "05551" "CMH26;RCM5" "cardiomyopathy, hypertrophic, type 26 (CMD-26); cardiomyopathy, restrictive, type 5 (RCM-5)" "AD" "617047" "" "autosomal dominant" "" "00006" "2019-01-22 14:54:52" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "FLNC" "02855" "FLNC" "03535" "FLNC" "05551" ## Individuals ## Do not remove or alter this header ## ## Count = 297 "{{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}}" "00050581" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00053094" "" "" "" "17" "" "00494" "{PMID:Vorgerd 2005:15929027}" "4-generation family, 17 affecteds (12 female, 5 male)" "?" "" "Germany" "" "0" "" "" "" "FamPatIII14" "00053133" "" "" "" "10" "" "00399" "{PMID:Luan 2010:20417099}" "6-generation family, 10 affecteds" "" "" "China" "" "0" "" "" "" "" "00053136" "" "" "" "1" "" "00464" "" "" "F" "" "United States" "" "0" "" "" "Asian" "" "00053137" "" "" "" "1" "" "00464" "" "" "" "" "United States" "" "0" "" "" "" "" "00053138" "" "" "" "1" "" "00464" "" "" "F" "" "Canada" "" "0" "" "" "" "" "00053141" "" "" "" "1" "" "00464" "" "" "M" "" "United States" "" "0" "" "" "" "" "00053142" "" "" "" "1" "" "01451" "" "" "" "" "Canada" "" "0" "" "" "" "" "00053143" "" "" "" "1" "" "01451" "" "" "" "" "Canada" "" "0" "" "" "" "" "00053144" "" "" "" "2" "" "00399" "{PMID:Shatunov 2009:19050726}" "affected mother and daughter" "F" "" "Germany" "" "0" "" "" "" "" "00053145" "" "" "" "4" "" "00006" "H Lee ASHG 2010 A2365" "4-generation family" "?" "" "Macedonia" "" "0" "" "" "" "" "00137093" "" "" "" "1" "" "02324" "" "unaffected parents" "M" "no" "United States" "81y" "0" "" "" "black, Indian" "patient2" "00174816" "" "" "" "1" "" "00006" "{PMID:Fichna 2018:29970176}" "" "F" "" "Poland" "" "0" "" "" "" "Pat200a" "00206810" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00206817" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00207952" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00208534" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00208802" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00208813" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00225538" "" "" "" "11" "" "02588" "{PMID:Nozari 2018:29551499}" "4-generation family, proband and 10 other affected family members.\r\n5 ungenotyped family members had sudden cardiac death." "-" "no" "Iran" "" "0" "" "" "" "Proband-Fam" "00265475" "" "" "" "1" "" "00006" "{PMID:Özyilmaz 2019:31066050}" "" "F" "" "Turkey" "" "0" "" "" "" "Pat19" "00269291" "" "" "" "34" "" "03478" "" "" "" "" "Hong Kong;(Hong Kong)" "" "0" "" "" "Chinese" "" "00274300" "" "" "" "1" "" "00006" "{PMID:Reddy 2017:27708273}" "" "M" "" "United States" "" "0" "" "" "Europe, white" "Fam1399" "00286251" "" "" "" "1" "" "03571" "{PMID:Janin 2017:28436997}" "" "" "" "" "" "0" "" "" "" "" "00286252" "" "" "" "1" "" "03571" "{PMID:Ader 2019:31245841}" "" "" "" "" "" "0" "" "" "" "" "00286253" "" "" "" "1" "" "03571" "{PMID:Janin 2017:28436997}" "" "" "" "" "" "0" "" "" "" "" "00286254" "" "" "" "1" "" "03571" "{PMID:Ortiz-Genga 2016:27908349}" "" "" "" "" "" "0" "" "" "" "" "00286255" "" "" "" "1" "" "03571" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "" "" "0" "" "" "" "" "00286256" "" "" "" "1" "" "03571" "{PMID:Ortiz-Genga 2016:27908349}" "" "" "" "" "" "0" "" "" "" "" "00286257" "" "" "" "1" "" "03571" "{PMID:Reinstein 2016:27601210}" "" "" "" "" "" "0" "" "" "" "" "00286258" "" "" "" "1" "" "03571" "{PMID:Valdes-Mas2014:25351925}" "" "" "" "" "" "0" "" "" "" "" "00286259" "" "" "" "1" "" "03571" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "" "" "0" "" "" "" "" "00286260" "" "" "" "1" "" "03571" "{PMID:Bains 2019:30935706}" "" "" "" "" "" "0" "" "" "" "" "00286261" "" "" "" "1" "" "03571" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "" "" "0" "" "" "" "" "00286262" "" "" "" "1" "" "03571" "{PMID:Valdes-Mas2014:25351925}" "" "" "" "" "" "0" "" "" "" "" "00286263" "" "" "" "1" "" "03571" "LOVD" "" "" "" "" "" "0" "" "" "" "" "00286264" "" "" "" "1" "" "03571" "{PMID:Ortiz-Genga 2016:27908349}" "" "" "" "" "" "0" "" "" "" "" "00286265" "" "" "" "1" "" "03571" "{PMID:Janin 2017:28436997}" "" "" "" "" "" "0" "" "" "" "" "00286266" "" "" "" "1" "" "03571" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "" "" "0" "" "" "" "" "00286267" "" "" "" "1" "" "03571" "{PMID:Duff 2011:21620354}" "" "" "" "" "" "0" "" "" "" "" "00286268" "" "" "" "1" "" "03571" "{PMID:Ortiz-Genga 2016:27908349}" "" "" "" "" "" "0" "" "" "" "" "00286269" "" "" "" "1" "" "03571" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "" "" "0" "" "" "" "" "00286270" "" "" "" "1" "" "03571" "{PMID:Gemelli 2019:30685713}" "" "" "" "" "" "0" "" "" "" "" "00286271" "" "" "" "1" "" "03571" "{PMID:Ader 2019:31245841}" "" "" "" "" "" "0" "" "" "" "" "00286272" "" "" "" "1" "" "03571" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "" "" "0" "" "" "" "" "00286273" "" "" "" "1" "" "03571" "{PMID:Begay 2018:30067491}" "" "" "" "" "" "0" "" "" "" "" "00286274" "" "" "" "1" "" "03571" "{PMID:Cui 2018:30411535}" "" "" "" "" "" "0" "" "" "" "" "00286275" "" "" "" "1" "" "03571" "{PMID:Duff 2011:21620354}" "" "" "" "" "" "0" "" "" "" "" "00286276" "" "" "" "1" "" "03571" "{PMID:Valdes-Mas2014:25351925}" "" "" "" "" "" "0" "" "" "" "" "00286277" "" "" "" "1" "" "03571" "{PMID:Weihl 2015:25617006}" "" "" "" "" "" "0" "" "" "" "" "00286278" "" "" "" "1" "" "03571" "{PMID:Dai 2015:25987458}" "" "" "" "" "" "0" "" "" "" "" "00286279" "" "" "" "1" "" "03571" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "" "" "0" "" "" "" "" "00286280" "" "" "" "1" "" "03571" "{PMID:Alejandra Restrepo-Cordoba 2017:28138913}" "" "" "" "" "" "0" "" "" "" "" "00286281" "" "" "" "1" "" "03571" "{PMID:Cui 2018:30411535}" "" "" "" "" "" "0" "" "" "" "" "00286282" "" "" "" "1" "" "03571" "{PMID:Cui 2018:30411535}" "" "" "" "" "" "0" "" "" "" "" "00286283" "" "" "" "1" "" "03571" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "" "" "0" "" "" "" "" "00286284" "" "" "" "1" "" "03571" "{PMID:Ader 2019:31245841}" "" "" "" "" "" "0" "" "" "" "" "00286285" "" "" "" "1" "" "03571" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "" "" "0" "" "" "" "" "00286286" "" "" "" "1" "" "03571" "{PMID:Tobita 2017:29235529}" "" "" "" "" "" "0" "" "" "" "" "00286287" "" "" "" "1" "" "03571" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "" "" "0" "" "" "" "" "00286288" "" "" "" "1" "" "03571" "LOVD" "" "" "" "" "" "0" "" "" "" "" "00286289" "" "" "" "1" "" "03571" "{PMID:Weihl 2015:25617006}" "" "" "" "" "" "0" "" "" "" "" "00286290" "" "" "" "1" "" "03571" "{PMID:Ortiz-Genga 2016:27908349}" "" "" "" "" "" "0" "" "" "" "" "00286291" "" "" "" "1" "" "03571" "{PMID:Weihl 2015:25617006}" "" "" "" "" "" "0" "" "" "" "" "00286292" "" "" "" "1" "" "03571" "{PMID:Cui 2018:30411535}" "" "" "" "" "" "0" "" "" "" "" "00286293" "" "" "" "1" "" "03571" "{PMID:Janin 2017:28436997}" "" "" "" "" "" "0" "" "" "" "" "00286294" "" "" "" "1" "" "03571" "LOVD" "" "" "" "" "" "0" "" "" "" "" "00286295" "" "" "" "1" "" "03571" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "" "" "0" "" "" "" "" "00286296" "" "" "" "1" "" "03571" "{PMID:Zhang 2018:30539912}" "" "" "" "" "" "0" "" "" "" "" "00286297" "" "" "" "1" "" "03571" "{PMID:Ader 2019:31245841}" "" "" "" "" "" "0" "" "" "" "" "00286298" "" "" "" "1" "" "03571" "{PMID:Cui 2018:30411535}" "" "" "" "" "" "0" "" "" "" "" "00286299" "" "" "" "1" "" "03571" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "" "" "0" "" "" "" "" "00286300" "" "" "" "1" "" "03571" "{PMID:Begay 2018:30067491}" "" "" "" "" "" "0" "" "" "" "" "00286301" "" "" "" "1" "" "03571" "{PMID:Weihl 2015:25617006}" "" "" "" "" "" "0" "" "" "" "" "00286302" "" "" "" "1" "" "03571" "{PMID:Cui 2018:30411535}" "" "" "" "" "" "0" "" "" "" "" "00286303" "" "" "" "1" "" "03571" "{PMID:Ortiz-Genga 2016:27908349}" "" "" "" "" "" "0" "" "" "" "" "00286304" "" "" "" "1" "" "03571" "{PMID:Janin 2017:28436997}" "" "" "" "" "" "0" "" "" "" "" "00286305" "" "" "" "1" "" "03571" "{PMID:Jaafar 2016:27574918}" "" "" "" "" "" "0" "" "" "" "" "00286306" "" "" "" "1" "" "03571" "{PMID:Janin 2017:28436997}" "" "" "" "" "" "0" "" "" "" "" "00286307" "" "" "" "1" "" "03571" "{PMID:Cirino 2017:2903040}" "" "" "" "" "" "0" "" "" "" "" "00286308" "" "" "" "1" "" "03571" "{PMID:Cui 2018:30411535}" "" "" "" "" "" "0" "" "" "" "" "00286309" "" "" "" "1" "" "03571" "{PMID:Cui 2018:30411535}" "" "" "" "" "" "0" "" "" "" "" "00286310" "" "" "" "1" "" "03571" "{PMID:Ader 2019:31245841}" "" "" "" "" "" "0" "" "" "" "" "00286311" "" "" "" "1" "" "03571" "{PMID:Cui 2018:30411535}" "" "" "" "" "" "0" "" "" "" "" "00286312" "" "" "" "1" "" "03571" "LOVD" "" "" "" "" "" "0" "" "" "" "" "00286313" "" "" "" "1" "" "03571" "{PMID:Ortiz-Genga 2016:27908349}" "" "" "" "" "" "0" "" "" "" "" "00286314" "" "" "" "1" "" "03571" "{PMID:Begay 2018:30067491}" "" "" "" "" "" "0" "" "" "" "" "00286315" "" "" "" "1" "" "03571" "{PMID:Reinstein 2016:27601210}" "" "" "" "" "" "0" "" "" "" "" "00286316" "" "" "" "1" "" "03571" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "" "" "0" "" "" "" "" "00286317" "" "" "" "2" "" "03571" "{PMID:Miszalski-Jamka 2017:28798025}" "family, 2 affected; case solved" "" "" "" "" "0" "" "" "" "FamFPat145" "00286318" "" "" "" "1" "" "03571" "{PMID:Janin 2017:28436997}" "" "" "" "" "" "0" "" "" "" "" "00286319" "" "" "" "1" "" "03571" "{PMID:Ortiz-Genga 2016:27908349}" "" "" "" "" "" "0" "" "" "" "" "00286320" "" "" "" "1" "" "03571" "{PMID:Ader 2019:31245841}" "" "" "" "" "" "0" "" "" "" "" "00286321" "" "" "" "1" "" "03571" "{PMID:Ader 2019:31245841}" "" "" "" "" "" "0" "" "" "" "" "00286322" "" "" "" "1" "" "03571" "{PMID:Cui 2018:30411535}" "" "" "" "" "" "0" "" "" "" "" "00286323" "" "" "" "1" "" "03571" "{PMID:Kiselev 2018:29858533}" "" "" "" "" "" "0" "" "" "" "" "00286324" "" "" "" "1" "" "03571" "{PMID:Ghaoui 2015:26436962}" "" "" "" "" "" "0" "" "" "" "" "00286325" "" "" "" "1" "" "03571" "Avila-Smirnow 2010, HG online" "" "" "" "" "" "0" "" "" "" "" "00286326" "" "" "" "1" "" "03571" "{PMID:Yu 2017:28403181}" "" "" "" "" "" "0" "" "" "" "" "00286327" "" "" "" "1" "" "03571" "{PMID:Weihl 2015:25617006}" "" "" "" "" "" "0" "" "" "" "" "00286328" "" "" "" "1" "" "03571" "{PMID:Ortiz-Genga 2016:27908349}" "" "" "" "" "" "0" "" "" "" "" "00286329" "" "" "" "1" "" "03571" "{PMID:Deo 2014:25633252}" "" "" "" "" "" "0" "" "" "" "" "00286330" "" "" "" "1" "" "03571" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "" "" "0" "" "" "" "" "00286331" "" "" "" "1" "" "03571" "{PMID:Ortiz-Genga 2016:27908349}" "" "" "" "" "" "0" "" "" "" "" "00286332" "" "" "" "1" "" "03571" "{PMID:Janin 2017:28436997}" "" "" "" "" "" "0" "" "" "" "" "00286333" "" "" "" "1" "" "03571" "{PMID:Cuenca 2016:26899768}" "" "" "" "" "" "0" "" "" "" "" "00286334" "" "" "" "1" "" "03571" "{PMID:Ortiz-Genga 2016:27908349}" "" "" "" "" "" "0" "" "" "" "" "00286335" "" "" "" "1" "" "03571" "{PMID:Ader 2019:31245841}" "" "" "" "" "" "0" "" "" "" "" "00286336" "" "" "" "1" "" "03571" "{PMID:Ortiz-Genga 2016:27908349}" "" "" "" "" "" "0" "" "" "" "" "00286337" "" "" "" "1" "" "03571" "{PMID:Valdes-Mas2014:25351925}" "" "" "" "" "" "0" "" "" "" "" "00286338" "" "" "" "1" "" "03571" "{PMID:Esslinger 2017:28296976}" "" "" "" "" "" "0" "" "" "" "" "00286339" "" "" "" "1" "" "03571" "{PMID:Augusto 2019:31317183}" "" "" "" "" "" "0" "" "" "" "" "00286340" "" "" "" "1" "" "03571" "Sanoja, Li, Fricker, Kingsmore, & Wallace, 2018" "" "" "" "" "" "0" "" "" "" "" "00286341" "" "" "" "1" "" "03571" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "" "" "0" "" "" "" "" "00286342" "" "" "" "1" "" "03571" "{PMID:Gomez 2017:28356264}" "" "" "" "" "" "0" "" "" "" "" "00286343" "" "" "" "1" "" "03571" "{PMID:Ortiz-Genga 2016:27908349}" "" "" "" "" "" "0" "" "" "" "" "00286344" "" "" "" "1" "" "03571" "{PMID:Brodehl 2016:26666891}" "" "" "" "" "" "0" "" "" "" "" "00286345" "" "" "" "1" "" "03571" "{PMID:Zenagui 2018:29792937}" "" "" "" "" "" "0" "" "" "" "" "00286346" "" "" "" "1" "" "03571" "LOVD" "" "" "" "" "" "0" "" "" "" "" "00286347" "" "" "" "1" "" "03571" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "" "" "0" "" "" "" "" "00286348" "" "" "" "1" "" "03571" "{PMID:Gomez 2017:28356264}" "" "" "" "" "" "0" "" "" "" "" "00286349" "" "" "" "1" "" "03571" "{PMID:Gomez 2017:28356264}" "" "" "" "" "" "0" "" "" "" "" "00286350" "" "" "" "1" "" "03571" "{PMID:Cui 2018:30411535}" "" "" "" "" "" "0" "" "" "" "" "00286351" "" "" "" "1" "" "03571" "{PMID:Cui 2018:30411535}" "" "" "" "" "" "0" "" "" "" "" "00286352" "" "" "" "1" "" "03571" "{PMID:Ader 2019:31245841}" "" "" "" "" "" "0" "" "" "" "" "00286353" "" "" "" "1" "" "03571" "{PMID:Zhang 2018:30539912}" "" "" "" "" "" "0" "" "" "" "" "00286354" "" "" "" "1" "" "03571" "{PMID:Guergueltcheva 2011:22131542}" "" "" "" "" "" "0" "" "" "" "" "00286355" "" "" "" "1" "" "03571" "{PMID:Rossi 2017:29073160}" "" "" "" "" "" "0" "" "" "" "" "00286356" "" "" "" "1" "" "03571" "{PMID:Yu 2017:28403181}" "" "" "" "" "" "0" "" "" "" "" "00286357" "" "" "" "1" "" "03571" "{PMID:Ortiz-Genga 2016:27908349}" "" "" "" "" "" "0" "" "" "" "" "00286358" "" "" "" "1" "" "03571" "{PMID:Chanavat 2016:26688388}" "" "" "" "" "" "0" "" "" "" "" "00286359" "" "" "" "1" "" "03571" "{PMID:Ortiz-Genga 2016:27908349}" "" "" "" "" "" "0" "" "" "" "" "00286360" "" "" "" "1" "" "03571" "{PMID:Begay 2018:30067491}" "" "" "" "" "" "0" "" "" "" "" "00286361" "" "" "" "1" "" "03571" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "" "" "0" "" "" "" "" "00286362" "" "" "" "1" "" "03571" "{PMID:Ader 2019:31245841}" "" "" "" "" "" "0" "" "" "" "" "00286363" "" "" "" "1" "" "03571" "{PMID:Cui 2018:30411535}" "" "" "" "" "" "0" "" "" "" "" "00286364" "" "" "" "1" "" "03571" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "" "" "0" "" "" "" "" "00286365" "" "" "" "1" "" "03571" "{PMID:Jaafar 2016:27574918}" "" "" "" "" "" "0" "" "" "" "" "00286366" "" "" "" "1" "" "03571" "{PMID:Ader 2019:31245841}" "" "" "" "" "" "0" "" "" "" "" "00286367" "" "" "" "1" "" "03571" "{PMID:Chanavat 2016:26688388}" "" "" "" "" "" "0" "" "" "" "" "00286368" "" "" "" "1" "" "03571" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "" "" "0" "" "" "" "" "00286369" "" "" "" "1" "" "03571" "{PMID:Ader 2019:31245841}" "" "" "" "" "" "0" "" "" "" "" "00286370" "" "" "" "1" "" "03571" "{PMID:Chanavat 2016:26688388}" "" "" "" "" "" "0" "" "" "" "" "00286371" "" "" "" "1" "" "03571" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "" "" "0" "" "" "" "" "00286372" "" "" "" "1" "" "03571" "{PMID:Ortiz-Genga 2016:27908349}" "" "" "" "" "" "0" "" "" "" "" "00286373" "" "" "" "1" "" "03571" "{PMID:Cuenca 2016:26899768}" "" "" "" "" "" "0" "" "" "" "" "00286374" "" "" "" "1" "" "03571" "{PMID:Ortiz-Genga 2016:27908349}" "" "" "" "" "" "0" "" "" "" "" "00286375" "" "" "" "1" "" "03571" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "" "" "0" "" "" "" "" "00286376" "" "" "" "1" "" "03571" "{PMID:Cui 2018:30411535}" "" "" "" "" "" "0" "" "" "" "" "00286377" "" "" "" "1" "" "03571" "{PMID:Valdes-Mas2014:25351925}" "" "" "" "" "" "0" "" "" "" "" "00286378" "" "" "" "1" "" "03571" "{PMID:Gomez 2017:28356264}" "" "" "" "" "" "0" "" "" "" "" "00286379" "" "" "" "1" "" "03571" "{PMID:Valdes-Mas2014:25351925}" "" "" "" "" "" "0" "" "" "" "" "00286380" "" "" "" "1" "" "03571" "{PMID:Brodehl 2016:26666891}" "" "" "" "" "" "0" "" "" "" "" "00286381" "" "" "" "1" "" "03571" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "" "" "0" "" "" "" "" "00286382" "" "" "" "1" "" "03571" "{PMID:Alejandra Restrepo-Cordoba 2017:28138913}" "" "" "" "" "" "0" "" "" "" "" "00286383" "" "" "" "1" "" "03571" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "" "" "0" "" "" "" "" "00286384" "" "" "" "1" "" "03571" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "" "" "0" "" "" "" "" "00286385" "" "" "" "1" "" "03571" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "" "" "0" "" "" "" "" "00286386" "" "" "" "1" "" "03571" "{PMID:Cerino 2017:28256728}" "" "" "" "" "" "0" "" "" "" "" "00286387" "" "" "" "1" "" "03571" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "" "" "0" "" "" "" "" "00286388" "" "" "" "1" "" "03571" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "" "" "0" "" "" "" "" "00286389" "" "" "" "1" "" "03571" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "" "" "0" "" "" "" "" "00286390" "" "" "" "1" "" "03571" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "" "" "0" "" "" "" "" "00286391" "" "" "" "1" "" "03571" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "" "" "0" "" "" "" "" "00286392" "" "" "" "1" "" "03571" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "" "" "0" "" "" "" "" "00286393" "" "" "" "1" "" "03571" "{PMID:Gomez 2017:28356264}" "" "" "" "" "" "0" "" "" "" "" "00286394" "" "" "" "1" "" "03571" "{PMID:Ader 2019:31245841}" "" "" "" "" "" "0" "" "" "" "" "00286395" "" "" "" "1" "" "03571" "{PMID:Gomez 2017:28356264}" "" "" "" "" "" "0" "" "" "" "" "00286396" "" "" "" "1" "" "03571" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "" "" "0" "" "" "" "" "00286397" "" "" "" "1" "" "03571" "{PMID:Valdes-Mas2014:25351925}" "" "" "" "" "" "0" "" "" "" "" "00286398" "" "" "" "1" "" "03571" "{PMID:Gomez 2017:28356264}" "" "" "" "" "" "0" "" "" "" "" "00286399" "" "" "" "1" "" "03571" "{PMID:Ortiz-Genga 2016:27908349}" "" "" "" "" "" "0" "" "" "" "" "00286400" "" "" "" "1" "" "03571" "{PMID:Janin 2017:28436997}" "" "" "" "" "" "0" "" "" "" "" "00286401" "" "" "" "1" "" "03571" "{PMID:Tucker 2017:29212899}" "" "" "" "" "" "0" "" "" "" "" "00286402" "" "" "" "1" "" "03571" "{PMID:Schubert 2018:30260051}" "" "" "" "" "" "0" "" "" "" "" "00286403" "" "" "" "1" "" "03571" "{PMID:Roldan-Sevilla 2019:30919686}" "" "" "" "" "" "0" "" "" "" "" "00286404" "" "" "" "1" "" "03571" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "" "" "0" "" "" "" "" "00286405" "" "" "" "1" "" "03571" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "" "" "0" "" "" "" "" "00286406" "" "" "" "1" "" "03571" "{PMID:Cui 2018:30411535}" "" "" "" "" "" "0" "" "" "" "" "00286407" "" "" "" "1" "" "03571" "{PMID:Ader 2019:31245841}" "" "" "" "" "" "0" "" "" "" "" "00286408" "" "" "" "1" "" "03571" "{PMID:Ader 2019:31245841}" "" "" "" "" "" "0" "" "" "" "" "00286409" "" "" "" "1" "" "03571" "{PMID:Ader 2019:31245841}" "" "" "" "" "" "0" "" "" "" "" "00286410" "" "" "" "1" "" "03571" "{PMID:Gomez 2017:28356264}" "" "" "" "" "" "0" "" "" "" "" "00286411" "" "" "" "1" "" "03571" "{PMID:Kosmicki 2017:28191890}" "" "" "" "" "" "0" "" "" "" "" "00286412" "" "" "" "1" "" "03571" "{PMID:Weihl 2015:25617006}" "" "" "" "" "" "0" "" "" "" "" "00286413" "" "" "" "1" "" "03571" "{PMID:Chen 2019:31421687}" "" "" "" "" "" "0" "" "" "" "" "00286414" "" "" "" "1" "" "03571" "{PMID:Ader 2019:31245841}" "" "" "" "" "" "0" "" "" "" "" "00286415" "" "" "" "1" "" "03571" "{PMID:Ader 2019:31245841}" "" "" "" "" "" "0" "" "" "" "" "00286416" "" "" "" "1" "" "03571" "{PMID:Ortiz-Genga 2016:27908349}" "" "" "" "" "" "0" "" "" "" "" "00286417" "" "" "" "1" "" "03571" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "" "" "0" "" "" "" "" "00286418" "" "" "" "1" "" "03571" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "" "" "0" "" "" "" "" "00286419" "" "" "" "1" "" "03571" "{PMID:Valdes-Mas2014:25351925}" "" "" "" "" "" "0" "" "" "" "" "00286420" "" "" "" "1" "" "03571" "{PMID:Tasca 2012:22806379}" "" "" "" "" "" "0" "" "" "" "" "00286421" "" "" "" "1" "" "03571" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "" "" "0" "" "" "" "" "00286422" "" "" "" "1" "" "03571" "{PMID:Ader 2019:31245841}" "" "" "" "" "" "0" "" "" "" "" "00286423" "" "" "" "1" "" "03571" "{PMID:Cui 2018:30411535}" "" "" "" "" "" "0" "" "" "" "" "00286424" "" "" "" "1" "" "03571" "{PMID:Mangum & Ferns, 2019:30118858}" "" "" "" "" "" "0" "" "" "" "" "00286425" "" "" "" "1" "" "03571" "{PMID:Ader 2019:31245841}" "" "" "" "" "" "0" "" "" "" "" "00286426" "" "" "" "1" "" "03571" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "" "" "0" "" "" "" "" "00286427" "" "" "" "1" "" "03571" "{PMID:Ader 2019:31245841}" "" "" "" "" "" "0" "" "" "" "" "00286428" "" "" "" "1" "" "03571" "{PMID:Schubert 2018:30260051}" "" "" "" "" "" "0" "" "" "" "" "00286429" "" "" "" "1" "" "03571" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "" "" "0" "" "" "" "" "00286430" "" "" "" "1" "" "03571" "{PMID:Chanavat 2016:26688388}" "" "" "" "" "" "0" "" "" "" "" "00286431" "" "" "" "1" "" "03571" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "" "" "0" "" "" "" "" "00286432" "" "" "" "1" "" "03571" "{PMID:Ader 2019:31245841}" "" "" "" "" "" "0" "" "" "" "" "00286433" "" "" "" "1" "" "03571" "{PMID:Ortiz-Genga 2016:27908349}" "" "" "" "" "" "0" "" "" "" "" "00286434" "" "" "" "1" "" "03571" "{PMID:Vorgerd 2005:15929027}" "" "" "" "" "" "0" "" "" "" "" "00286435" "" "" "" "1" "" "03571" "{PMID:Janssens 2015:26555887}" "" "" "" "" "" "0" "" "" "" "" "00286436" "" "" "" "1" "" "03571" "{PMID:Janssens 2015:26555887}" "" "" "" "" "" "0" "" "" "" "" "00286437" "" "" "" "1" "" "03571" "{PMID:Aloraifi 2015:26094658}" "" "" "" "" "" "0" "" "" "" "" "00286438" "" "" "" "1" "" "03571" "{PMID:Takata 2018:29346770}" "" "" "" "" "" "0" "" "" "" "" "00286439" "" "" "" "1" "" "03571" "{PMID:Janssens 2015:26555887}" "" "" "" "" "" "0" "" "" "" "" "00286440" "" "" "" "1" "" "03571" "{PMID:Janssens 2015:26555887}" "" "" "" "" "" "0" "" "" "" "" "00286441" "" "" "" "1" "" "03571" "{PMID:Janssens 2015:26555887}" "" "" "" "" "" "0" "" "" "" "" "00286442" "" "" "" "1" "" "03571" "{PMID:Janssens 2015:26555887}" "" "" "" "" "" "0" "" "" "" "" "00286443" "" "" "" "1" "" "03571" "{PMID:Kosmicki 2017:28191890}" "" "" "" "" "" "0" "" "" "" "" "00286444" "" "" "" "1" "" "03571" "{PMID:Janssens 2015:26555887}" "" "" "" "" "" "0" "" "" "" "" "00286445" "" "" "" "1" "" "03571" "{PMID:Janssens 2015:26555887}" "" "" "" "" "" "0" "" "" "" "" "00286446" "" "" "" "1" "" "03571" "{PMID:Janssens 2015:26555887}" "" "" "" "" "" "0" "" "" "" "" "00286447" "" "" "" "1" "" "03571" "{PMID:Janssens 2015:26555887}" "" "" "" "" "" "0" "" "" "" "" "00286448" "" "" "" "1" "" "03571" "{PMID:Janssens 2015:26555887}" "" "" "" "" "" "0" "" "" "" "" "00286449" "" "" "" "1" "" "03571" "{PMID:Janssens 2015:26555887}" "" "" "" "" "" "0" "" "" "" "" "00286450" "" "" "" "1" "" "03571" "{PMID:Janssens 2015:26555887}" "" "" "" "" "" "0" "" "" "" "" "00286451" "" "" "" "1" "" "03571" "{PMID:Janssens 2015:26555887}" "" "" "" "" "" "0" "" "" "" "" "00286452" "" "" "" "1" "" "03571" "{PMID:Ostrowski 2016:28008999}" "" "" "" "" "" "0" "" "" "" "" "00286453" "" "" "" "1" "" "03571" "{PMID:Janssens 2015:26555887}" "" "" "" "" "" "0" "" "" "" "" "00286454" "" "" "" "1" "" "03571" "{PMID:Janssens 2015:26555887}" "" "" "" "" "" "0" "" "" "" "" "00286455" "" "" "" "1" "" "03571" "{PMID:Janssens 2015:26555887}" "" "" "" "" "" "0" "" "" "" "" "00286456" "" "" "" "1" "" "03571" "{PMID:Janssens 2015:26555887}" "" "" "" "" "" "0" "" "" "" "" "00289138" "" "" "" "1" "" "00006" "{PMID:Evilä 2016:26627873}" "" "" "" "Netherlands" "" "0" "" "" "" "P7" "00289419" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00294319" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294320" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294321" "" "" "" "12" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294322" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294324" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296402" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00299442" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00300632" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00305775" "" "" "" "1" "" "00006" "{PMID:Yu 2017:28403181}" "analysis 180 LGMD patients" "F" "" "China" "" "0" "" "" "" "P52" "00305800" "" "" "" "1" "" "00006" "{PMID:Yu 2017:28403181}" "analysis 180 LGMD patients" "M" "" "China" "" "0" "" "" "" "P84" "00307194" "" "" "" "1" "" "00534" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Australia" "" "0" "" "" "" "D15-1576" "00314298" "" "" "" "2" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314299" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314300" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314301" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314302" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314303" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314304" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314305" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314306" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314307" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314308" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314309" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00320306" "" "" "" "1" "" "00006" "{PMID:Isbister 2020:32931854}" "" "" "" "Australia" "" "0" "" "" "" "CEO1" "00330893" "" "" "" "1" "" "03361" "" "" "M" "" "France" "" "" "" "" "" "" "00374678" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3407" "00374737" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5249" "00388703" "" "" "" "1" "" "00006" "{PMID:Chakravorty 2020:33250842}" "" "M" "" "India" "" "0" "" "" "India" "Pat119" "00391983" "" "" "" "1" "" "03501" "{PMID:Karthikeyan 2024:39548682}" "" "M" "yes" "India" "" "0" "yes" "" "" "MDCRC/1296/DBI-1079" "00392004" "" "" "" "1" "" "03501" "{PMID:Karthikeyan 2024:39548682}" "" "M" "" "India" "" "0" "" "" "" "MDCRC/1846/DBI-1493" "00417626" "" "" "" "1" "" "04384" "" "" "" "" "" "" "" "" "" "" "" "00417654" "" "" "" "1" "" "04384" "" "" "" "" "" "" "" "" "" "" "" "00417662" "" "" "" "1" "" "04384" "" "" "" "" "" "" "" "" "" "" "" "00417671" "" "" "" "1" "" "04384" "" "" "" "" "" "" "" "" "" "" "" "00417690" "" "" "" "1" "" "04384" "" "" "" "" "" "" "" "" "" "" "" "00430433" "" "" "" "1" "" "00006" "{PMID:Cavdarli 2023:36575883}" "analysis 146 neuromuscular disease patients" "M" "" "Turkey" "" "0" "" "" "" "D44" "00430459" "" "" "" "1" "" "00006" "{PMID:Cavdarli 2023:36575883}" "analysis 146 neuromuscular disease patients, unsolved" "M" "" "Turkey" "" "0" "" "" "" "U3" "00430462" "" "" "" "1" "" "00006" "{PMID:Cavdarli 2023:36575883}" "analysis 146 neuromuscular disease patients, unsolved" "F" "" "Turkey" "" "0" "" "" "" "U6" "00430463" "" "" "" "1" "" "00006" "{PMID:Cavdarli 2023:36575883}" "analysis 146 neuromuscular disease patients, unsolved" "M" "" "Turkey" "" "0" "" "" "" "U7" "00438511" "" "" "" "1" "" "00006" "{PMID:Cavdarli 2023:36575883}" "analysis 67 patients muscular dystrophy/myopathy (not DMD)" "M" "" "Turkey" "" "0" "" "" "" "D44" "00438537" "" "" "" "1" "" "00006" "{PMID:Cavdarli 2023:36575883}" "analysis 67 patients muscular dystrophy/myopathy (not DMD)" "M" "" "Turkey" "" "0" "" "" "" "U3" "00438540" "" "" "" "1" "" "00006" "{PMID:Cavdarli 2023:36575883}" "analysis 67 patients muscular dystrophy/myopathy (not DMD)" "F" "" "Turkey" "" "0" "" "" "" "U6" "00438541" "" "" "" "1" "" "00006" "{PMID:Cavdarli 2023:36575883}" "analysis 67 patients muscular dystrophy/myopathy (not DMD)" "M" "" "Turkey" "" "0" "" "" "" "U7" "00442663" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "F" "" "" "" "0" "" "" "" "Pat35" "00442750" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "M" "" "" "" "0" "" "" "" "Pat122" "00442751" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "M" "" "" "" "0" "" "" "" "Pat123" "00442769" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "M" "" "" "" "0" "" "" "" "Pat141" "00442776" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "F" "" "" "" "0" "" "" "" "Pat148" "00442779" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "M" "" "" "" "0" "" "" "" "Pat151" "00442785" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "F" "" "" "" "0" "" "" "" "Pat157" "00442793" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "F" "" "" "" "0" "" "" "" "Pat165" "00442804" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "M" "" "" "" "0" "" "" "" "Pat176" "00442805" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "F" "" "" "" "0" "" "" "" "Pat177" "00442806" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "F" "" "" "" "0" "" "" "" "Pat178" "00442807" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "F" "" "" "" "0" "" "" "" "Pat179" "00442808" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "F" "" "" "" "0" "" "" "" "Pat180" "00446887" "" "" "00286317" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "relative; case solved" "" "" "" "" "0" "" "" "" "FamFPat65" "00448090" "" "" "" "1" "" "00006" "{PMID:Del Rocio Perez Baca 2023:37292950}, {PMID:Del Rocio Perez Baca 2024:38412861}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "" "" "0" "" "" "" "Pat23" "00453179" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam433Pat465" "00453758" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV215" "00453759" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV951" "00453760" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV877" "00453782" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV975" "00460979" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00465694" "" "" "" "1" "" "00006" "{PMID:Cao 2025:40364824}" "analysis 60 cases (non-)ischemic dilated cardiomyopathy" "" "" "United States" "" "0" "" "" "" "patient" "00466089" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "338649" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 293 "{{individualid}}" "{{diseaseid}}" "00050581" "00198" "00053094" "05096" "00053133" "05096" "00053136" "05096" "00053137" "05096" "00053138" "05096" "00053141" "05096" "00053142" "05098" "00053143" "05098" "00053144" "05096" "00053145" "05096" "00137093" "00198" "00174816" "05126" "00206810" "00198" "00206817" "00198" "00225538" "00352" "00265475" "05126" "00269291" "02855" "00274300" "05126" "00286251" "04172" "00286252" "04172" "00286253" "04172" "00286254" "04172" "00286255" "04172" "00286256" "04172" "00286257" "04172" "00286258" "04172" "00286259" "04172" "00286260" "04172" "00286261" "04172" "00286262" "04172" "00286263" "04172" "00286264" "04172" "00286265" "04172" "00286266" "04172" "00286267" "00244" "00286268" "04172" "00286269" "04172" "00286270" "00244" "00286271" "04172" "00286272" "04172" "00286273" "04172" "00286274" "04172" "00286275" "00244" "00286276" "04172" "00286277" "05105" "00286278" "00244" "00286279" "04172" "00286280" "04172" "00286281" "04172" "00286282" "04172" "00286283" "00244" "00286284" "04172" "00286285" "04172" "00286286" "04172" "00286287" "04172" "00286288" "04172" "00286289" "05105" "00286290" "04172" "00286291" "05105" "00286292" "04172" "00286293" "04172" "00286294" "04172" "00286295" "00244" "00286296" "00244" "00286297" "04172" "00286298" "04172" "00286299" "04172" "00286300" "04172" "00286301" "05105" "00286302" "04172" "00286303" "04172" "00286304" "04172" "00286305" "04172" "00286306" "04172" "00286307" "04172" "00286308" "04172" "00286309" "04172" "00286310" "04172" "00286311" "04172" "00286312" "04172" "00286313" "04172" "00286314" "04172" "00286315" "04172" "00286316" "04172" "00286317" "04172" "00286318" "04172" "00286319" "04172" "00286320" "04172" "00286321" "04172" "00286322" "04172" "00286323" "04172" "00286324" "00244" "00286325" "00244" "00286326" "00244" "00286327" "05105" "00286328" "04172" "00286329" "04172" "00286330" "04172" "00286331" "04172" "00286332" "04172" "00286333" "04172" "00286334" "04172" "00286335" "04172" "00286336" "04172" "00286337" "04172" "00286338" "04172" "00286339" "04172" "00286340" "04172" "00286341" "00244" "00286342" "04172" "00286343" "04172" "00286344" "04172" "00286345" "00244" "00286346" "04172" "00286347" "04172" "00286348" "04172" "00286349" "04172" "00286350" "04172" "00286351" "04172" "00286352" "04172" "00286353" "00244" "00286354" "00244" "00286355" "00244" "00286356" "00244" "00286357" "04172" "00286358" "04172" "00286359" "04172" "00286360" "04172" "00286361" "04172" "00286362" "04172" "00286363" "04172" "00286364" "04172" "00286365" "04172" "00286366" "04172" "00286367" "04172" "00286368" "04172" "00286369" "04172" "00286370" "04172" "00286371" "04172" "00286372" "04172" "00286373" "04172" "00286374" "04172" "00286375" "04172" "00286376" "04172" "00286377" "04172" "00286378" "04172" "00286379" "04172" "00286380" "04172" "00286381" "04172" "00286382" "04172" "00286383" "04172" "00286384" "04172" "00286385" "04172" "00286386" "05105" "00286387" "00244" "00286388" "00244" "00286389" "04172" "00286390" "04172" "00286391" "04172" "00286392" "04172" "00286393" "04172" "00286394" "04172" "00286395" "04172" "00286396" "04172" "00286397" "04172" "00286398" "04172" "00286399" "04172" "00286400" "04172" "00286401" "04172" "00286402" "04172" "00286403" "04172" "00286404" "00244" "00286405" "00244" "00286406" "04172" "00286407" "04172" "00286408" "04172" "00286409" "04172" "00286410" "04172" "00286411" "00198" "00286412" "05105" "00286413" "00244" "00286414" "04172" "00286415" "04172" "00286416" "04172" "00286417" "04172" "00286418" "00244" "00286419" "04172" "00286420" "00244" "00286421" "04172" "00286422" "04172" "00286423" "04172" "00286424" "00198" "00286425" "04172" "00286426" "04172" "00286427" "04172" "00286428" "04172" "00286429" "00244" "00286430" "04172" "00286431" "04172" "00286432" "04172" "00286433" "04172" "00286434" "00244" "00286435" "00096" "00286436" "00096" "00286437" "00318" "00286438" "00138" "00286439" "00096" "00286440" "00096" "00286441" "00198" "00286442" "01505" "00286443" "00138" "00286444" "00096" "00286445" "00096" "00286446" "00096" "00286447" "00198" "00286448" "00096" "00286449" "00096" "00286450" "00096" "00286451" "00096" "00286452" "04246" "00286453" "00198" "00286454" "00096" "00286455" "00198" "00286456" "00096" "00289138" "00244" "00289419" "00198" "00294319" "00198" "00294320" "00198" "00294321" "00198" "00294322" "00198" "00294324" "00198" "00296402" "00198" "00299442" "00198" "00300632" "00198" "00305775" "05126" "00305800" "05126" "00307194" "00385" "00314298" "05126" "00314299" "05126" "00314300" "05126" "00314301" "05126" "00314302" "05126" "00314303" "05126" "00314304" "05126" "00314305" "05126" "00314306" "05126" "00314307" "05126" "00314308" "05126" "00314309" "05126" "00320306" "04172" "00330893" "05126" "00374678" "00198" "00374737" "00198" "00388703" "00244" "00391983" "05324" "00392004" "05324" "00417626" "00352" "00417654" "00352" "00417662" "00352" "00417671" "05158" "00417690" "05158" "00430433" "05618" "00430459" "05618" "00430462" "05618" "00430463" "05618" "00438511" "05121" "00438537" "05121" "00438540" "05121" "00438541" "05121" "00442663" "05618" "00442750" "05618" "00442751" "05618" "00442769" "05618" "00442776" "05618" "00442779" "05618" "00442785" "05618" "00442793" "05618" "00442804" "05618" "00442805" "05618" "00442806" "05618" "00442807" "05618" "00442808" "05618" "00446887" "04173" "00448090" "05611" "00453179" "04172" "00453758" "00152" "00453759" "00152" "00453760" "00152" "00453782" "00152" "00460979" "00198" "00465694" "00352" "00466089" "02855" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00096, 00138, 00152, 00198, 00244, 00318, 00352, 00385, 01505, 02855, 03535, 04172, 04173, 04246, 05096, 05098, 05105, 05121, 05126, 05158, 05324, 05551, 05611, 05618 ## Count = 271 "{{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}}" "0000037193" "00198" "00050581" "00006" "Isolated (sporadic)" "" "patent ductus arteriosus, midline central nervous system lipomas, global developmental delay, abnormality of the sclera, short philtrum" "" "" "" "" "" "" "" "" "" "" "" "0000039796" "05096" "00053094" "00494" "Familial, autosomal dominant" "" "slowly progressive skeletal-muscle weakness, beginning lower extremities, respiratory insufficiency; CPK 2-8x; proximal myopathy; distal myopathy; diagnosis of myofibrillar myopathy using cardiac tissue" "37y" "" "" "IHC abnormal fibers with marked accumulation DES, massive aggregates FLNC (MYOT, DMD, SGC positive)" "" "" "" "" "" "" "" "0000039835" "05096" "00053133" "00399" "Familial, autosomal dominant" "" "progressive muscle weakness all limbs, mild cardiac symptoms, some patients chronic diarrhea; muscle biopsy numerous spheroid bodies/amorphous deposits fibers; proximal myopathy; diagnosis of myofibrillar myopathy using cardiac tissue" "35y-40y" "" "" "" "" "" "" "" "" "" "" "0000039838" "05096" "00053136" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039839" "05096" "00053137" "00464" "Isolated (sporadic)" "" "cardiomyopathy; CPK 1050" "" "" "" "" "" "" "" "" "" "" "" "0000039840" "05096" "00053138" "00464" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039843" "05096" "00053141" "00464" "Unknown" "" "skeletal myopathy, hypertrophic cardiomyopathy; CPK 676" "" "" "" "" "" "" "" "" "" "" "" "0000039844" "05098" "00053142" "01451" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039845" "05098" "00053143" "01451" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039846" "05096" "00053144" "00399" "Unknown" "" "proximal myopathy; distal myopathy; diagnosis of myofibrillar myopathy using cardiac tissue" "" "" "" "" "" "" "" "" "" "" "" "0000039847" "05096" "00053145" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000115933" "00198" "00137093" "02324" "Unknown" "79y" "adult onset, progressive upper and lower limb proximal weakness, scapular winging, arrhythmia, artificial ventilation, CK elevation >10x; muscle biopsy shows myopathic and dystrophic features" "" "" "" "" "" "" "" "" "" "" "" "0000139643" "05126" "00174816" "00006" "Isolated (sporadic)" "06y" "onset overt symptoms childhood; CPK raised 33x; limb-girdle weakness, waddling gait; improvement after corticosteroid treatment; Mi2-antibodies" "" "" "" "" "" "" "" "" "" "proximal myopathy" "" "0000154599" "00198" "00206810" "01807" "Unknown" "" "Increased muscle glycogen content (HP:0009051); Cardiomyopathy (HP:0001638); Abnormal atrioventricular conduction (HP:0005150)" "" "" "" "" "" "" "" "" "" "" "" "0000154606" "00198" "00206817" "01807" "Unknown" "" "HP:0003198 (Myopathy)" "" "" "" "" "" "" "" "" "" "" "" "0000157207" "00198" "00208534" "01164" "Unknown" "" "HP:0010549 (Weakness due to upper motor neuron dysfunction); HP:0003236 (Elevated serum creatine phosphokinase)" "" "" "" "" "" "" "" "" "" "" "" "0000157414" "00198" "00208802" "01164" "Unknown" "" "HP:0005109 (Abnormality of the Achilles tendon); HP:0001883 (Talipes)" "" "" "" "" "" "" "" "" "" "" "" "0000157424" "00198" "00208813" "01164" "Unknown" "" "HP:0011805 (Abnormality of muscle morphology); HP:0003198 (Myopathy)" "" "" "" "" "" "" "" "" "" "" "" "0000170652" "00352" "00225538" "02588" "Familial, autosomal dominant" "49y" "Palpitations (HP:0001962), dyspnea (HP:0002094), chest pain (HP:0100749), fatigue (HP:0012378), hypokinesia (HP:0002375), increased density of left ventricular trabeculae (HP:0031194), atrial fibrillation (HP:0005110), ventricular extrasystoles (HP:0006682)" "14y" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000203272" "05126" "00265475" "00006" "Unknown" "11y" "high CK, proximal weakness" "" "" "" "" "" "" "" "" "" "LGMD" "" "0000209245" "05126" "00274300" "00006" "Familial, autosomal dominant" "" "CK level 120-150; cardiomyopathy, heart transplantation; ambulatory; proximal myopathy" "05y" "" "" "" "" "" "" "" "" "LGMD" "" "0000220108" "04172" "00286251" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220109" "04172" "00286252" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220110" "04172" "00286253" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220111" "04172" "00286254" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220112" "04172" "00286255" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220113" "04172" "00286256" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220114" "04172" "00286257" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220115" "04172" "00286258" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220116" "04172" "00286259" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220117" "04172" "00286260" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic bileaflet mitral valve prolapse syndrome" "" "0000220118" "04172" "00286261" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220119" "04172" "00286262" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220120" "04172" "00286263" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220121" "04172" "00286264" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220122" "04172" "00286265" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220123" "04172" "00286266" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic cardiomyopathy" "" "0000220124" "00244" "00286267" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "distal myopathy, proximal myopathy, cardiac involvement, central nervous system involvement" "" "0000220125" "04172" "00286268" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220126" "04172" "00286269" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220127" "00244" "00286270" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "distal myopathy, proximal myopathy, diagnosis of myofibrillar myopathy using cardiac tissue" "" "0000220128" "04172" "00286271" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220129" "04172" "00286272" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220130" "04172" "00286273" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220131" "04172" "00286274" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220132" "00244" "00286275" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "distal myopathy, proximal myopathy" "" "0000220133" "04172" "00286276" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220134" "05105" "00286277" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "inclusion body myositis" "" "0000220135" "00244" "00286278" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "other non-specified myopathy" "" "0000220136" "04172" "00286279" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220137" "04172" "00286280" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220138" "04172" "00286281" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220139" "04172" "00286282" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220140" "00244" "00286283" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "proximal myopathy" "" "0000220141" "04172" "00286284" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220142" "04172" "00286285" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220143" "04172" "00286286" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220144" "04172" "00286287" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220145" "04172" "00286288" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220146" "05105" "00286289" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "inclusion body myositis" "" "0000220147" "04172" "00286290" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220148" "05105" "00286291" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "inclusion body myositis" "" "0000220149" "04172" "00286292" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220150" "04172" "00286293" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220151" "04172" "00286294" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220152" "00244" "00286295" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "other non-specified myopathy" "" "0000220153" "00244" "00286296" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "proximal myopathy; distal myopathy; diagnosis of myofibrillar myopathy using cardiac tissue" "" "0000220154" "04172" "00286297" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220155" "04172" "00286298" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220156" "04172" "00286299" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220157" "04172" "00286300" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220158" "05105" "00286301" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "inclusion body myositis" "" "0000220159" "04172" "00286302" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220160" "04172" "00286303" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220161" "04172" "00286304" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220162" "04172" "00286305" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220163" "04172" "00286306" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220164" "04172" "00286307" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220165" "04172" "00286308" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220166" "04172" "00286309" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220167" "04172" "00286310" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220168" "04172" "00286311" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220169" "04172" "00286312" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220170" "04172" "00286313" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220171" "04172" "00286314" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220172" "04172" "00286315" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220173" "04172" "00286316" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220174" "04172" "00286317" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "non-compaction cardiomyopathy" "" "0000220175" "04172" "00286318" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220176" "04172" "00286319" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220177" "04172" "00286320" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220178" "04172" "00286321" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220179" "04172" "00286322" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220180" "04172" "00286323" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "restrictive cardiomyopathy" "" "0000220181" "00244" "00286324" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "proximal myopathy; distal myopathy; congenital myopathy; contractures" "" "0000220182" "00244" "00286325" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "proximal myopathy; cardiac involvement; diagnosis of myofibrillar myopathy using cardiac tissue" "" "0000220183" "00244" "00286326" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "proximal myopathy; cardiac involvement" "" "0000220184" "05105" "00286327" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "inclusion body myositis" "" "0000220185" "04172" "00286328" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220186" "04172" "00286329" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220187" "04172" "00286330" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220188" "04172" "00286331" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220189" "04172" "00286332" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220190" "04172" "00286333" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220191" "04172" "00286334" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220192" "04172" "00286335" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220193" "04172" "00286336" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220194" "04172" "00286337" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220195" "04172" "00286338" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220196" "04172" "00286339" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220197" "04172" "00286340" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "restrictive cardiomyopathy" "" "0000220198" "00244" "00286341" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "proximal myopathy; distal myopathy; Con" "" "0000220199" "04172" "00286342" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220200" "04172" "00286343" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220201" "04172" "00286344" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "restrictive cardiomyopathy" "" "0000220202" "00244" "00286345" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "other non-specified myopathy" "" "0000220203" "04172" "00286346" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220204" "04172" "00286347" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220205" "04172" "00286348" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220206" "04172" "00286349" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220207" "04172" "00286350" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220208" "04172" "00286351" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220209" "04172" "00286352" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "non-compaction cardiomyopathy" "" "0000220210" "00244" "00286353" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "proximal myopathy; distal myopathy; diagnosis of myofibrillar myopathy using cardiac tissue" "" "0000220211" "00244" "00286354" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "distal myopathy, cardiac involvement" "" "0000220212" "00244" "00286355" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "distal myopathy" "" "0000220213" "00244" "00286356" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "proximal myopathy" "" "0000220214" "04172" "00286357" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220215" "04172" "00286358" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220216" "04172" "00286359" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220217" "04172" "00286360" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220218" "04172" "00286361" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220219" "04172" "00286362" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "restrictive cardiomyopathy" "" "0000220220" "04172" "00286363" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220221" "04172" "00286364" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220222" "04172" "00286365" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220223" "04172" "00286366" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220224" "04172" "00286367" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220225" "04172" "00286368" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220226" "04172" "00286369" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220227" "04172" "00286370" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220228" "04172" "00286371" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220229" "04172" "00286372" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220230" "04172" "00286373" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220231" "04172" "00286374" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220232" "04172" "00286375" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220233" "04172" "00286376" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220234" "04172" "00286377" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220235" "04172" "00286378" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220236" "04172" "00286379" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220237" "04172" "00286380" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "restrictive cardiomyopathy" "" "0000220238" "04172" "00286381" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220239" "04172" "00286382" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220240" "04172" "00286383" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220241" "04172" "00286384" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic cardiomyopathy" "" "0000220242" "04172" "00286385" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic cardiomyopathy" "" "0000220243" "05105" "00286386" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "inclusion body myositis" "" "0000220244" "00244" "00286387" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "proximal myopathy; cardiac involvement" "" "0000220245" "00244" "00286388" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "other non-specified myopathy; congenital myopathy" "" "0000220246" "04172" "00286389" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220247" "04172" "00286390" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220248" "04172" "00286391" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220249" "04172" "00286392" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220250" "04172" "00286393" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220251" "04172" "00286394" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220252" "04172" "00286395" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220253" "04172" "00286396" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220254" "04172" "00286397" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220255" "04172" "00286398" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220256" "04172" "00286399" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220257" "04172" "00286400" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220258" "04172" "00286401" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "restrictive cardiomyopathy" "" "0000220259" "04172" "00286402" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "restrictive cardiomyopathy" "" "0000220260" "04172" "00286403" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "restrictive cardiomyopathy" "" "0000220261" "00244" "00286404" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "other non-specified myopathy" "" "0000220262" "00244" "00286405" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "other non-specified myopathy" "" "0000220263" "04172" "00286406" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220264" "04172" "00286407" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220265" "04172" "00286408" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220266" "04172" "00286409" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220267" "04172" "00286410" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220268" "00198" "00286411" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "congenital heart disease" "" "0000220269" "05105" "00286412" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "inclusion body myositis" "" "0000220270" "00244" "00286413" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "proximal myopathy; distal myopathy; diagnosis of myofibrillar myopathy using cardiac tissue" "" "0000220271" "04172" "00286414" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220272" "04172" "00286415" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220273" "04172" "00286416" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220274" "04172" "00286417" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "non-compaction cardiomyopathy" "" "0000220275" "00244" "00286418" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "other non-specified myopathy" "" "0000220276" "04172" "00286419" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220277" "00244" "00286420" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "proximal myopathy; cardiac involvement; central nervous system involvement; diagnosis of myofibrillar myopathy using cardiac tissue" "" "0000220278" "04172" "00286421" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220279" "04172" "00286422" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220280" "04172" "00286423" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220281" "00198" "00286424" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiac arrhythmia" "" "0000220282" "04172" "00286425" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220283" "04172" "00286426" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220284" "04172" "00286427" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220285" "04172" "00286428" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "restrictive cardiomyopathy" "" "0000220286" "00244" "00286429" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "proximal myopathy; contractures" "" "0000220287" "04172" "00286430" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220288" "04172" "00286431" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000220289" "04172" "00286432" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "restrictive cardiomyopathy" "" "0000220290" "04172" "00286433" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000220291" "00244" "00286434" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "proximal myopathy; distal myopathy; diagnosis of myofibrillar myopathy using cardiac tissue" "" "0000220292" "00096" "00286435" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "frontotemporal dementia" "" "0000220293" "00096" "00286436" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "frontotemporal dementia" "" "0000220294" "00318" "00286437" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "breast cancer" "" "0000220295" "00138" "00286438" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000220296" "00096" "00286439" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "frontotemporal dementia" "" "0000220297" "00096" "00286440" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "frontotemporal dementia" "" "0000220298" "00198" "00286441" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "progressive nonfluent aphasia" "" "0000220299" "01505" "00286442" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Pick\'s disease" "" "0000220300" "00138" "00286443" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000220301" "00096" "00286444" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "frontotemporal dementia" "" "0000220302" "00096" "00286445" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "frontotemporal dementia" "" "0000220303" "00096" "00286446" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "frontotemporal dementia" "" "0000220304" "00198" "00286447" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "progressive nonfluent aphasia" "" "0000220305" "00096" "00286448" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "frontotemporal dementia" "" "0000220306" "00096" "00286449" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "frontotemporal dementia" "" "0000220307" "00096" "00286450" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "frontotemporal dementia" "" "0000220308" "00096" "00286451" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "frontotemporal dementia" "" "0000220309" "04246" "00286452" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "inflammatory bowel disease" "" "0000220310" "00198" "00286453" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "progressive nonfluent aphasia" "" "0000220311" "00096" "00286454" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "frontotemporal dementia" "" "0000220312" "00198" "00286455" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "progressive nonfluent aphasia" "" "0000220313" "00096" "00286456" "03571" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "frontotemporal dementia" "" "0000222771" "00244" "00289138" "00006" "Familial, autosomal dominant" "" "LGMD" "" "" "" "" "" "" "" "" "" "myopathy" "" "0000223031" "00198" "00289419" "01164" "Unknown" "" "Abnormality of muscle physiology (HP:0011804); Elevated serum creatine phosphokinase (HP:0003236); Abnormal levels of creatine kinase in blood (HP:0040081); Proximal muscle weakness in lower limbs (HP:0008994)" "" "" "" "" "" "" "" "" "" "" "" "0000223816" "00198" "00296402" "01164" "Unknown" "" "Abnormality of muscle physiology (HP:0011804); Myalgia (HP:0003326)" "" "" "" "" "" "" "" "" "" "" "" "0000226752" "00198" "00299442" "01164" "Unknown" "" "Myofibrillar myopathy (HP:0003715); Muscle weakness (HP:0001324); Abnormal levels of creatine kinase in blood (HP:0040081)" "" "" "" "" "" "" "" "" "" "" "" "0000227943" "00198" "00300632" "01164" "Unknown" "" "Muscular hypotonia (HP:0001252); Poor suck (HP:0002033); Facial hypotonia (HP:0000297); Oral motor hypotonia (HP:0030190); Limb-girdle muscle weakness (HP:0003325); Gowers sign (HP:0003391); Scapular winging (HP:0003691); Proximal muscle weakness (HP:0003701); Pelvic girdle muscle weakness (HP:0003749)" "" "" "" "" "" "" "" "" "" "" "" "0000231621" "05126" "00305775" "00006" "Unknown" "32y" "mild (MRC grade ≥4/5); lower limbs more severe than upper limbs; contractures; serum CK max. 34 IU/L; biopsy myopathic; nemaline body; multi-core; 　" "12y" "" "" "" "" "" "" "" "" "limb-girdle muscular dystrophy" "" "0000231646" "05126" "00305800" "00006" "Unknown" "49y" "moderate (MRC grade 3-4/5); lower limbs more severe than upper limbs; distal weakness; neck flexor weakness (HP:0003722); extra-ocular muscle affected; scapular winging; elevated serum CK (max. 487 IU/L); biopsy dystrophic; lobulated fiber; rimmed vacuole; 　" "43y" "" "" "" "" "" "" "" "" "limb-girdle muscular dystrophy" "" "0000232999" "00385" "00307194" "00534" "Isolated (sporadic)" "" "hand clenching; hip dislocation; hitchhiker thumb; distal arthrogryposis; scoliosis; high palate; posteriorly rotated ears" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000242334" "04172" "00320306" "00006" "Unknown" "" "survived sudden cardiac arrest" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000269888" "00198" "00374678" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000269947" "00198" "00374737" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000282243" "00244" "00388703" "00006" "Familial, autosomal recessive" "21y" "proximal muscle weakness; CK level 500 IU/L; difficulty getting up from ground, Winging of scapula; Most-affected muscles: Mild Upper and lower girdle weakness" "16y" "" "" "" "" "" "" "" "" "" "" "0000285273" "05324" "00391983" "03501" "Unknown" "18y" "no symptoms" "08y" "" "" "" "" "" "" "" "" "family history muscular dystrophy" "" "0000285294" "05324" "00392004" "03501" "Unknown" "8y" "delayed fine motor development (HP:0010862), calf muscle hypertrophy (HP:0008981), Gowers sign (HP:0003391), frequent falls (HP:0002359), difficulty climbing stairs (HP:0003551), difficulty walking (HP:0002355), waddling gait (HP:0002515), proximal muscle weakness (HP:0003701), toe walking (HP:0040083)" "2y" "" "" "" "" "" "" "" "muscular dystrophy" "DMD" "" "0000321230" "05618" "00430433" "00006" "Familial, autosomal dominant" "58y" "congenital myopathy, proximal muscle weakness" "" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" "0000321256" "05618" "00430459" "00006" "Unknown" "9y" "hyperCKemia, muscle weakness" "" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" "0000321259" "05618" "00430462" "00006" "Unknown" "36y" "muscle weakness; muscle biopsy dystrophic changes" "" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" "0000321260" "05618" "00430463" "00006" "Unknown" "4y" "hyperCKemia" "" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" "0000328414" "05121" "00438511" "00006" "Familial, autosomal dominant" "58y" "congenital myopathy, proximal muscle weakness" "" "" "" "" "" "" "" "" "" "muscular dystrophy/myopathy" "" "0000328440" "05121" "00438537" "00006" "Unknown" "9y" "hyperCKemia, muscle weakness" "" "" "" "" "" "" "" "" "" "muscular dystrophy/myopathy" "" "0000328443" "05121" "00438540" "00006" "Unknown" "36y" "muscle weakness, muscle biopsy: dystrophic changes" "" "" "" "" "" "" "" "" "" "muscular dystrophy/myopathy" "" "0000328444" "05121" "00438541" "00006" "Unknown" "4y" "hyperCKemia" "" "" "" "" "" "" "" "" "" "muscular dystrophy/myopathy" "" "0000332010" "05618" "00442663" "00006" "Familial, autosomal dominant" "51y" "Proximal limb-girdle weakness with kyphosis; muscle biopsy: no cores of rods; EMG: normal; MRI: fatty infiltration of several muscle groups; CK = 77 U/l" "33y" "" "" "" "" "" "" "" "" "Autosomal dominant limb girdle muscle weakness with kyphoscoliosis" "" "0000332097" "05618" "00442750" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "distal muscle weakness" "" "0000332098" "05618" "00442751" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "congenital myopathy" "" "0000332116" "05618" "00442769" "00006" "Unknown" "" "Rhabdomyolysis, hyperCKaemia and exercise intolerance" "" "" "" "" "" "" "" "" "" "rhabdomyolysis, hyperCKemia" "" "0000332123" "05618" "00442776" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000332126" "05618" "00442779" "00006" "Unknown" "" "Hypotonia, lethargy, motor delay, feeding difficulties, failure to thrive, possible centronuclear myopathy" "" "" "" "" "" "" "" "" "" "hypotonia" "" "0000332132" "05618" "00442785" "00006" "Unknown" "" "Arthrogrypose multiplex congenita, scoliosis, ptosis, muscle weakness" "" "" "" "" "" "" "" "" "" "arthrogrypose multiplex" "" "0000332140" "05618" "00442793" "00006" "Unknown" "" "Congenital myopathy, with micro- and retrognathia, autosomal dominant" "" "" "" "" "" "" "" "" "" "congenital myopathy" "" "0000332151" "05618" "00442804" "00006" "Unknown" "" "Limb-girdle muscle weakness, ophthalmoplegia, ptosis, hyperCKaemia" "" "" "" "" "" "" "" "" "" "Limb-girdle muscle weakness, ophthalmoplegia, ptosis, hyperCKaemia" "" "0000332152" "05618" "00442805" "00006" "Unknown" "" "Muscle weakness, myalgia" "" "" "" "" "" "" "" "" "" "muscle weakness" "" "0000332153" "05618" "00442806" "00006" "Unknown" "" "Muscle weakness" "" "" "" "" "" "" "" "" "" "muscle weakness" "" "0000332154" "05618" "00442807" "00006" "Unknown" "" "Muscle weakenss" "" "" "" "" "" "" "" "" "" "muscle weakness" "" "0000332155" "05618" "00442808" "00006" "Unknown" "" "Muscle weakenss" "" "" "" "" "" "" "" "" "" "muscle weakness" "" "0000336091" "04173" "00446887" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" "" "0000337282" "05611" "00448090" "00006" "Isolated (sporadic)" "" "(mild) intellectual disability and/or behavioural problems, postnatal growth retardation, feeding difficulties, facial characteristics" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000341825" "04172" "00453179" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000342415" "00152" "00453758" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000342416" "00152" "00453759" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000342417" "00152" "00453760" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000342439" "00152" "00453782" "00006" "Unknown" "" "aortic valve replacement, ascending aortic replacement; large ascending aneurysm" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000351232" "00352" "00465694" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy, non-ischemic" "" "0000351475" "02855" "00466089" "01164" "Unknown" "08y" "Hypotonia, Muscle weakness, Peripheral neuropathy" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 297 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050526" "00050581" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000053042" "00053094" "1" "00494" "00494" "2010-04-13 05:58:48" "00006" "2012-11-02 20:42:42" "PCRdig;SEQ" "DNA" "" "" "0000053081" "00053133" "1" "00399" "00399" "2010-06-29 19:43:46" "00006" "2012-11-02 20:42:42" "SEQ" "DNA" "" "" "0000053084" "00053136" "1" "00464" "00464" "2013-02-01 20:53:50" "00006" "2013-02-02 09:11:48" "PCR;SEQ" "DNA" "" "" "0000053085" "00053137" "1" "00464" "00464" "2013-03-27 16:17:31" "00006" "2013-03-29 11:06:08" "PCR;SEQ" "DNA" "" "" "0000053086" "00053138" "1" "00464" "00464" "2013-07-22 19:40:09" "00006" "2013-07-23 22:19:48" "PCR;SEQ" "DNA" "" "" "0000053089" "00053141" "1" "00464" "00464" "2014-10-02 22:55:15" "00006" "2014-10-11 13:44:01" "SEQ-NG" "DNA" "" "" "0000053090" "00053142" "1" "01451" "01451" "2015-10-28 17:30:51" "00006" "2015-10-31 14:56:56" "SEQ;SEQ-NG" "DNA" "" "" "0000053091" "00053143" "1" "01451" "01451" "2015-10-28 17:34:34" "00006" "2015-10-31 14:57:53" "SEQ;SEQ-NG" "DNA" "" "" "0000053092" "00053144" "1" "00399" "00399" "2010-06-29 19:43:46" "00006" "2012-11-02 20:42:42" "SEQ" "DNA" "" "" "0000053093" "00053145" "1" "00006" "00006" "2010-11-12 16:19:35" "00006" "2012-11-02 20:42:42" "SEQ" "DNA" "" "" "0000137933" "00137093" "1" "02324" "02324" "2017-11-26 15:07:37" "00006" "2017-11-27 15:57:55" "DOVAM;SEQ-NG" "DNA" "blood" "whole exome sequencing" "0000175707" "00174816" "1" "00006" "00006" "2018-08-10 19:10:48" "" "" "SEQ-NG" "DNA" "" "WES" "0000207844" "00206810" "1" "01807" "01807" "2018-11-14 14:33:16" "" "" "SEQ" "DNA" "" "" "0000207851" "00206817" "1" "01807" "01807" "2018-11-14 14:33:27" "" "" "SEQ" "DNA" "" "" "0000208997" "00207952" "1" "01164" "01164" "2018-12-04 16:43:50" "" "" "SEQ-NG" "DNA" "" "" "0000209582" "00208534" "1" "01164" "01164" "2018-12-10 11:04:21" "" "" "SEQ-NG" "DNA" "" "" "0000209851" "00208802" "1" "01164" "01164" "2018-12-17 10:13:39" "" "" "SEQ-NG" "DNA" "" "" "0000209862" "00208813" "1" "01164" "01164" "2018-12-17 10:13:46" "" "" "SEQ-NG" "DNA" "" "" "0000226617" "00225538" "1" "02588" "02588" "2019-02-18 09:39:47" "" "" "RT-PCR;SEQ;SEQ-NG-I" "DNA;RNA" "blood" "" "0000266598" "00265475" "1" "00006" "00006" "2019-09-26 11:09:23" "" "" "SEQ;SEQ-NG" "DNA" "" "LGMD gene panel" "0000270423" "00269291" "1" "03478" "03478" "2019-11-08 19:46:21" "" "" "SEQ" "DNA" "" "" "0000275456" "00274300" "1" "00006" "00006" "2019-12-28 16:38:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000287415" "00286251" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287416" "00286252" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287417" "00286253" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287418" "00286254" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287419" "00286255" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287420" "00286256" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287421" "00286257" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287422" "00286258" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287423" "00286259" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287424" "00286260" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287425" "00286261" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287426" "00286262" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287427" "00286263" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287428" "00286264" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287429" "00286265" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287430" "00286266" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287431" "00286267" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287432" "00286268" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287433" "00286269" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287434" "00286270" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287435" "00286271" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287436" "00286272" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287437" "00286273" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287438" "00286274" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287439" "00286275" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287440" "00286276" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287441" "00286277" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287442" "00286278" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287443" "00286279" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287444" "00286280" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287445" "00286281" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287446" "00286282" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287447" "00286283" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287448" "00286284" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287449" "00286285" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287450" "00286286" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287451" "00286287" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287452" "00286288" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287453" "00286289" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287454" "00286290" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287455" "00286291" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287456" "00286292" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287457" "00286293" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287458" "00286294" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287459" "00286295" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287460" "00286296" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287461" "00286297" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287462" "00286298" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287463" "00286299" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287464" "00286300" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287465" "00286301" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287466" "00286302" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287467" "00286303" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287468" "00286304" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287469" "00286305" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287470" "00286306" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287471" "00286307" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287472" "00286308" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287473" "00286309" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287474" "00286310" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287475" "00286311" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287476" "00286312" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287477" "00286313" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287478" "00286314" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287479" "00286315" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287480" "00286316" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287481" "00286317" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287482" "00286318" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287483" "00286319" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287484" "00286320" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287485" "00286321" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287486" "00286322" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287487" "00286323" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287488" "00286324" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287489" "00286325" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287490" "00286326" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287491" "00286327" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287492" "00286328" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287493" "00286329" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287494" "00286330" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287495" "00286331" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287496" "00286332" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287497" "00286333" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287498" "00286334" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287499" "00286335" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287500" "00286336" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287501" "00286337" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287502" "00286338" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287503" "00286339" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287504" "00286340" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287505" "00286341" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287506" "00286342" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287507" "00286343" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287508" "00286344" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287509" "00286345" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287510" "00286346" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287511" "00286347" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287512" "00286348" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287513" "00286349" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287514" "00286350" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287515" "00286351" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287516" "00286352" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287517" "00286353" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287518" "00286354" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287519" "00286355" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287520" "00286356" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287521" "00286357" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287522" "00286358" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287523" "00286359" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287524" "00286360" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287525" "00286361" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287526" "00286362" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287527" "00286363" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287528" "00286364" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287529" "00286365" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287530" "00286366" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287531" "00286367" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287532" "00286368" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287533" "00286369" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287534" "00286370" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287535" "00286371" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287536" "00286372" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287537" "00286373" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287538" "00286374" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287539" "00286375" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287540" "00286376" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287541" "00286377" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287542" "00286378" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287543" "00286379" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287544" "00286380" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287545" "00286381" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287546" "00286382" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287547" "00286383" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287548" "00286384" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287549" "00286385" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287550" "00286386" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287551" "00286387" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287552" "00286388" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287553" "00286389" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287554" "00286390" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287555" "00286391" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287556" "00286392" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287557" "00286393" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287558" "00286394" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287559" "00286395" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287560" "00286396" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287561" "00286397" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287562" "00286398" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287563" "00286399" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287564" "00286400" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287565" "00286401" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287566" "00286402" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287567" "00286403" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287568" "00286404" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287569" "00286405" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287570" "00286406" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287571" "00286407" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287572" "00286408" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287573" "00286409" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287574" "00286410" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287575" "00286411" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287576" "00286412" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287577" "00286413" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287578" "00286414" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287579" "00286415" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287580" "00286416" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287581" "00286417" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287582" "00286418" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287583" "00286419" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287584" "00286420" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287585" "00286421" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287586" "00286422" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287587" "00286423" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287588" "00286424" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287589" "00286425" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287590" "00286426" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287591" "00286427" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287592" "00286428" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287593" "00286429" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287594" "00286430" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287595" "00286431" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287596" "00286432" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287597" "00286433" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287598" "00286434" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287599" "00286435" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287600" "00286436" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287601" "00286437" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287602" "00286438" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287603" "00286439" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287604" "00286440" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287605" "00286441" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287606" "00286442" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287607" "00286443" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287608" "00286444" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287609" "00286445" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287610" "00286446" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287611" "00286447" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287612" "00286448" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287613" "00286449" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287614" "00286450" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287615" "00286451" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287616" "00286452" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287617" "00286453" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287618" "00286454" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287619" "00286455" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000287620" "00286456" "1" "03571" "00006" "2020-02-10 16:25:03" "" "" "SEQ" "DNA" "" "" "0000290308" "00289138" "1" "00006" "00006" "2020-03-01 11:31:09" "" "" "SEQ;SEQ-NG" "DNA" "" "MyoCap 180 myopathy gene panel" "0000290589" "00289419" "1" "01164" "01164" "2020-03-09 11:33:28" "" "" "SEQ-NG-S" "DNA" "" "" "0000295487" "00294319" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295488" "00294320" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295489" "00294321" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295490" "00294322" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295492" "00294324" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297513" "00296402" "1" "01164" "01164" "2020-04-06 09:48:25" "" "" "SEQ-NG-S" "DNA" "" "" "0000300552" "00299442" "1" "01164" "01164" "2020-04-16 09:59:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000301753" "00300632" "1" "01164" "01164" "2020-05-04 10:19:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000306905" "00305775" "1" "00006" "00006" "2020-07-02 12:45:49" "" "" "SEQ;SEQ-NG" "DNA" "" "candidate 420-gene panel" "0000306930" "00305800" "1" "00006" "00006" "2020-07-02 12:45:49" "" "" "SEQ;SEQ-NG" "DNA" "" "candidate 420-gene panel" "0000308336" "00307194" "1" "00534" "00006" "2020-08-05 17:01:04" "" "" "SEQ" "DNA" "" "" "0000315471" "00314298" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315472" "00314299" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315473" "00314300" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315474" "00314301" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315475" "00314302" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315476" "00314303" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315477" "00314304" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315478" "00314305" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315479" "00314306" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315480" "00314307" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315481" "00314308" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315482" "00314309" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000321492" "00320306" "1" "00006" "00006" "2020-11-27 09:16:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000332112" "00330893" "1" "03361" "03361" "2021-02-10 16:41:13" "" "" "SEQ-NG-IT" "DNA" "" "" "0000375872" "00374678" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375931" "00374737" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000389945" "00388703" "1" "00006" "00006" "2021-11-04 20:51:09" "" "" "SEQ-NG" "DNA" "" "WES" "0000393225" "00391983" "1" "03501" "00006" "2021-11-19 15:49:45" "" "" "SEQ-NG" "DNA" "" "screened DMD, SYNE1, FLNC" "0000393246" "00392004" "1" "03501" "00006" "2021-11-19 15:49:45" "" "" "SEQ-NG" "DNA" "" "screened DMD, SYNE1, FLNC" "0000418922" "00417626" "1" "04384" "04384" "2022-09-20 17:49:11" "" "" "SEQ-NG" "DNA" "" "" "0000418947" "00417654" "1" "04384" "04384" "2022-09-21 11:26:35" "" "" "SEQ-NG" "DNA" "" "" "0000418955" "00417662" "1" "04384" "04384" "2022-09-21 12:06:34" "" "" "SEQ-NG" "DNA" "" "" "0000418964" "00417671" "1" "04384" "04384" "2022-09-21 12:38:22" "" "" "SEQ-NG" "DNA" "" "" "0000418984" "00417690" "1" "04384" "04384" "2022-09-21 17:03:39" "" "" "SEQ-NG" "DNA" "" "" "0000431842" "00430433" "1" "00006" "00006" "2023-01-20 11:39:52" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000431868" "00430459" "1" "00006" "00006" "2023-01-20 11:39:52" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000431871" "00430462" "1" "00006" "00006" "2023-01-20 11:39:52" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000431872" "00430463" "1" "00006" "00006" "2023-01-20 11:39:52" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000439993" "00438511" "1" "00006" "00006" "2023-10-21 14:47:26" "" "" "SEQ;SEQ-NG" "DNA" "" "47-gene panel" "0000440019" "00438537" "1" "00006" "00006" "2023-10-21 14:47:26" "" "" "SEQ;SEQ-NG" "DNA" "" "47-gene panel" "0000440022" "00438540" "1" "00006" "00006" "2023-10-21 14:47:26" "" "" "SEQ;SEQ-NG" "DNA" "" "47-gene panel" "0000440023" "00438541" "1" "00006" "00006" "2023-10-21 14:47:26" "" "" "SEQ;SEQ-NG" "DNA" "" "47-gene panel" "0000444147" "00442663" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444234" "00442750" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ-NG" "DNA" "" "WES" "0000444235" "00442751" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ-NG" "DNA" "" "WES" "0000444253" "00442769" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ-NG" "DNA" "" "WES" "0000444260" "00442776" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ-NG" "DNA" "" "WES" "0000444263" "00442779" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ-NG" "DNA" "" "WES" "0000444269" "00442785" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ-NG" "DNA" "" "WES" "0000444277" "00442793" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ-NG" "DNA" "" "WES" "0000444288" "00442804" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ-NG" "DNA" "" "WES" "0000444289" "00442805" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ-NG" "DNA" "" "WES" "0000444290" "00442806" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ-NG" "DNA" "" "WES" "0000444291" "00442807" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ-NG" "DNA" "" "WES" "0000444292" "00442808" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ-NG" "DNA" "" "WES" "0000448462" "00446887" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000449663" "00448090" "1" "00006" "00006" "2024-02-15 17:03:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000454790" "00453179" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000455370" "00453758" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455371" "00453759" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455372" "00453760" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455394" "00453782" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000462611" "00460979" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "fibroblasts" "mRNA splicing analysis on tissue" "0000467345" "00465694" "1" "00006" "00006" "2025-06-05 10:19:41" "" "" "SEQ;SEQ-NG" "DNA" "" "36-gene panel" "0000467746" "00466089" "1" "01164" "01164" "2025-08-05 15:38:42" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 248 "{{screeningid}}" "{{geneid}}" "0000053042" "FLNC" "0000053081" "FLNC" "0000053084" "FLNC" "0000053085" "FLNC" "0000053086" "FLNC" "0000053089" "FLNC" "0000053090" "FLNC" "0000053091" "FLNC" "0000053092" "FLNC" "0000053093" "FLNC" "0000137933" "FHL1" "0000137933" "FLNC" "0000226617" "FLNC" "0000266598" "FLNC" "0000270423" "FLNC" "0000275456" "FLNC" "0000287415" "FLNC" "0000287416" "FLNC" "0000287417" "FLNC" "0000287418" "FLNC" "0000287419" "FLNC" "0000287420" "FLNC" "0000287421" "FLNC" "0000287422" "FLNC" "0000287423" "FLNC" "0000287424" "FLNC" "0000287425" "FLNC" "0000287426" "FLNC" "0000287427" "FLNC" "0000287428" "FLNC" "0000287429" "FLNC" "0000287430" "FLNC" "0000287431" "FLNC" "0000287432" "FLNC" "0000287433" "FLNC" "0000287434" "FLNC" "0000287435" "FLNC" "0000287436" "FLNC" "0000287437" "FLNC" "0000287438" "FLNC" "0000287439" "FLNC" "0000287440" "FLNC" "0000287441" "FLNC" "0000287442" "FLNC" "0000287443" "FLNC" "0000287444" "FLNC" "0000287445" "FLNC" "0000287446" "FLNC" "0000287447" "FLNC" "0000287448" "FLNC" "0000287449" "FLNC" "0000287450" "FLNC" "0000287451" "FLNC" "0000287452" "FLNC" "0000287453" "FLNC" "0000287454" "FLNC" "0000287455" "FLNC" "0000287456" "FLNC" "0000287457" "FLNC" "0000287458" "FLNC" "0000287459" "FLNC" "0000287460" "FLNC" "0000287461" "FLNC" "0000287462" "FLNC" "0000287463" "FLNC" "0000287464" "FLNC" "0000287465" "FLNC" "0000287466" "FLNC" "0000287467" "FLNC" "0000287468" "FLNC" "0000287469" "FLNC" "0000287470" "FLNC" "0000287471" "FLNC" "0000287472" "FLNC" "0000287473" "FLNC" "0000287474" "FLNC" "0000287475" "FLNC" "0000287476" "FLNC" "0000287477" "FLNC" "0000287478" "FLNC" "0000287479" "FLNC" "0000287480" "FLNC" "0000287481" "FLNC" "0000287482" "FLNC" "0000287483" "FLNC" "0000287484" "FLNC" "0000287485" "FLNC" "0000287486" "FLNC" "0000287487" "FLNC" "0000287488" "FLNC" "0000287489" "FLNC" "0000287490" "FLNC" "0000287491" "FLNC" "0000287492" "FLNC" "0000287493" "FLNC" "0000287494" "FLNC" "0000287495" "FLNC" "0000287496" "FLNC" "0000287497" "FLNC" "0000287498" "FLNC" "0000287499" "FLNC" "0000287500" "FLNC" "0000287501" "FLNC" "0000287502" "FLNC" "0000287503" "FLNC" "0000287504" "FLNC" "0000287505" "FLNC" "0000287506" "FLNC" "0000287507" "FLNC" "0000287508" "FLNC" "0000287509" "FLNC" "0000287510" "FLNC" "0000287511" "FLNC" "0000287512" "FLNC" "0000287513" "FLNC" "0000287514" "FLNC" "0000287515" "FLNC" "0000287516" "FLNC" "0000287517" "FLNC" "0000287518" "FLNC" "0000287519" "FLNC" "0000287520" "FLNC" "0000287521" "FLNC" "0000287522" "FLNC" "0000287523" "FLNC" "0000287524" "FLNC" "0000287525" "FLNC" "0000287526" "FLNC" "0000287527" "FLNC" "0000287528" "FLNC" "0000287529" "FLNC" "0000287530" "FLNC" "0000287531" "FLNC" "0000287532" "FLNC" "0000287533" "FLNC" "0000287534" "FLNC" "0000287535" "FLNC" "0000287536" "FLNC" "0000287537" "FLNC" "0000287538" "FLNC" "0000287539" "FLNC" "0000287540" "FLNC" "0000287541" "FLNC" "0000287542" "FLNC" "0000287543" "FLNC" "0000287544" "FLNC" "0000287545" "FLNC" "0000287546" "FLNC" "0000287547" "FLNC" "0000287548" "FLNC" "0000287549" "FLNC" "0000287550" "FLNC" "0000287551" "FLNC" "0000287552" "FLNC" "0000287553" "FLNC" "0000287554" "FLNC" "0000287555" "FLNC" "0000287556" "FLNC" "0000287557" "FLNC" "0000287558" "FLNC" "0000287559" "FLNC" "0000287560" "FLNC" "0000287561" "FLNC" "0000287562" "FLNC" "0000287563" "FLNC" "0000287564" "FLNC" "0000287565" "FLNC" "0000287566" "FLNC" "0000287567" "FLNC" "0000287568" "FLNC" "0000287569" "FLNC" "0000287570" "FLNC" "0000287571" "FLNC" "0000287572" "FLNC" "0000287573" "FLNC" "0000287574" "FLNC" "0000287575" "FLNC" "0000287576" "FLNC" "0000287577" "FLNC" "0000287578" "FLNC" "0000287579" "FLNC" "0000287580" "FLNC" "0000287581" "FLNC" "0000287582" "FLNC" "0000287583" "FLNC" "0000287584" "FLNC" "0000287585" "FLNC" "0000287586" "FLNC" "0000287587" "FLNC" "0000287588" "FLNC" "0000287589" "FLNC" "0000287590" "FLNC" "0000287591" "FLNC" "0000287592" "FLNC" "0000287593" "FLNC" "0000287594" "FLNC" "0000287595" "FLNC" "0000287596" "FLNC" "0000287597" "FLNC" "0000287598" "FLNC" "0000287599" "FLNC" "0000287600" "FLNC" "0000287601" "FLNC" "0000287602" "FLNC" "0000287603" "FLNC" "0000287604" "FLNC" "0000287605" "FLNC" "0000287606" "FLNC" "0000287607" "FLNC" "0000287608" "FLNC" "0000287609" "FLNC" "0000287610" "FLNC" "0000287611" "FLNC" "0000287612" "FLNC" "0000287613" "FLNC" "0000287614" "FLNC" "0000287615" "FLNC" "0000287616" "FLNC" "0000287617" "FLNC" "0000287618" "FLNC" "0000287619" "FLNC" "0000287620" "FLNC" "0000290308" "FLNC" "0000306905" "FLNC" "0000306930" "FLNC" "0000308336" "FLNC" "0000315471" "FLNC" "0000315472" "FLNC" "0000315473" "FLNC" "0000315474" "FLNC" "0000315475" "FLNC" "0000315476" "FLNC" "0000315477" "FLNC" "0000315478" "FLNC" "0000315479" "FLNC" "0000315480" "FLNC" "0000315481" "FLNC" "0000315482" "FLNC" "0000321492" "FLNC" "0000375872" "CAV3" "0000375931" "FLNC" "0000418922" "FLNC" "0000418947" "FLNC" "0000418955" "FLNC" "0000418964" "FLNC" "0000418984" "FLNC" "0000462611" "FLNC" "0000467746" "FLNC" ## 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 = 1646 "{{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}}" "0000079506" "0" "90" "7" "121000064" "135573959" "del" "0" "00006" "IMPDH1_000003" "g.121000064_135573959del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000082974" "11" "90" "7" "128498529" "128498529" "subst" "0" "00494" "FLNC_000001" "g.128498529G>A" "" "{PMID:Vorgerd 2005:15929027}, {OMIM102565:0001}" "" "" "mapped by linkage; not in 220 control chromosomes" "Germline" "" "" "0" "" "" "g.128858475G>A" "" "likely pathogenic" "" "0000083013" "1" "90" "7" "128483515" "128483532" "delins" "0" "00399" "FLNC_000002" "g.128483515_128483532delinsGTTTGT" "" "{PMID:Luan 2010:20417099}" "" "" "" "Germline" "" "" "0" "" "" "g.128843461_128843478delinsGTTTGT" "" "pathogenic" "" "0000083016" "0" "50" "7" "128483506" "128483506" "subst" "0.000373975" "00464" "FLNC_000004" "g.128483506G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.128843452G>A" "" "VUS" "" "0000083017" "0" "90" "7" "128497298" "128497298" "subst" "0" "00464" "FLNC_000005" "g.128497298A>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.128857244A>G" "" "pathogenic" "" "0000083018" "0" "70" "7" "128485076" "128485076" "subst" "0" "00464" "FLNC_000006" "g.128485076C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.128845022C>T" "" "likely pathogenic" "" "0000083021" "0" "50" "7" "128485076" "128485076" "subst" "0" "00464" "FLNC_000006" "g.128485076C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.128845022C>T" "" "VUS" "" "0000083022" "0" "70" "7" "128488980" "128488980" "subst" "0" "01451" "FLNC_000007" "g.128488980C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.128848926C>T" "" "likely pathogenic" "" "0000083023" "0" "70" "7" "128493885" "128493885" "subst" "0" "01451" "FLNC_000008" "g.128493885A>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.128853831A>T" "" "likely pathogenic" "" "0000083024" "21" "90" "7" "128483609" "128483620" "del" "0" "00399" "FLNC_000003" "g.128483609_128483620del" "" "{PMID:Shatunov 2009:19050726}" "" "2997_3008del" "RNA muscle; not in 482 control chromosomes" "Germline" "" "" "0" "" "" "g.128843555_128843566del" "" "pathogenic" "" "0000083025" "1" "50" "7" "128498529" "128498529" "subst" "0" "00006" "FLNC_000001" "g.128498529G>A" "" "H Lee ASHG 2010 A2365" "" "" "linkage (LOD 2.9), segregates" "Germline" "" "" "0" "" "" "g.128858475G>A" "" "VUS" "" "0000234248" "0" "70" "7" "128480211" "128480211" "subst" "4.06785E-6" "02324" "FLNC_000009" "g.128480211C>A" "" "" "" "" "relevance of variant to phenotype unclear (the FLNC variant seems causative)" "Germline" "" "" "0" "" "" "g.128840157C>A" "" "likely pathogenic" "" "0000246553" "0" "10" "7" "128494510" "128494510" "subst" "0.00228283" "02330" "FLNC_000120" "g.128494510A>G" "" "" "" "FLNC(NM_001127487.1):c.6672A>G (p.(Pro2224=)), FLNC(NM_001458.4):c.6771A>G (p.P2257=), FLNC(NM_001458.5):c.6771A>G (p.P2257=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128854456A>G" "" "benign" "" "0000246580" "0" "10" "7" "128484816" "128484816" "subst" "0.223971" "02330" "FLNC_000153" "g.128484816A>G" "" "" "" "FLNC(NM_001458.5):c.3297A>G (p.V1099=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128844762A>G" "" "benign" "" "0000246605" "0" "10" "7" "128498578" "128498578" "subst" "0.0124216" "02330" "FLNC_000143" "g.128498578A>G" "" "" "" "FLNC(NM_001458.5):c.*1A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128858524A>G" "" "benign" "" "0000246654" "0" "50" "7" "128485025" "128485025" "subst" "0.00115462" "02330" "FLNC_000066" "g.128485025A>G" "" "" "" "FLNC(NM_001458.4):c.3506A>G (p.K1169R), FLNC(NM_001458.5):c.3506A>G (p.K1169R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128844971A>G" "" "VUS" "" "0000250708" "0" "10" "7" "128497400" "128497400" "subst" "0.00284511" "02326" "FLNC_000136" "g.128497400A>G" "" "" "" "FLNC(NM_001458.4):c.7780+10A>G, FLNC(NM_001458.5):c.7780+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128857346A>G" "" "benign" "" "0000251925" "0" "30" "7" "128478381" "128478381" "subst" "9.74611E-5" "02326" "FLNC_000025" "g.128478381A>G" "" "" "" "FLNC(NM_001458.4):c.1108A>G (p.M370V), FLNC(NM_001458.5):c.1108A>G (p.M370V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128838327A>G" "" "likely benign" "" "0000252661" "0" "50" "7" "128498095" "128498095" "subst" "0" "02326" "FLNC_000138" "g.128498095A>G" "" "" "" "FLNC(NM_001458.4):c.7814A>G (p.E2605G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128858041A>G" "" "VUS" "" "0000252662" "0" "50" "7" "128478367" "128478367" "subst" "6.09162E-5" "02326" "FLNC_000024" "g.128478367A>G" "" "" "" "FLNC(NM_001458.4):c.1094A>G (p.E365G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128838313A>G" "" "VUS" "" "0000252764" "0" "50" "7" "128484121" "128484121" "subst" "0" "02326" "FLNC_000060" "g.128484121A>T" "" "" "" "FLNC(NM_001458.4):c.2993A>T (p.Q998L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128844067A>T" "" "VUS" "" "0000252776" "0" "50" "7" "128484778" "128484778" "subst" "4.0653E-6" "02326" "FLNC_000164" "g.128484778A>C" "" "" "" "FLNC(NM_001458.4):c.3259A>C (p.T1087P), FLNC(NM_001458.5):c.3259A>C (p.T1087P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128844724A>C" "" "VUS" "" "0000253060" "0" "10" "7" "128497400" "128497400" "subst" "0.00284511" "01943" "FLNC_000136" "g.128497400A>G" "" "" "" "FLNC(NM_001458.4):c.7780+10A>G, FLNC(NM_001458.5):c.7780+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128857346A>G" "" "benign" "" "0000253353" "0" "10" "7" "128494510" "128494510" "subst" "0.00228283" "01943" "FLNC_000120" "g.128494510A>G" "" "" "" "FLNC(NM_001127487.1):c.6672A>G (p.(Pro2224=)), FLNC(NM_001458.4):c.6771A>G (p.P2257=), FLNC(NM_001458.5):c.6771A>G (p.P2257=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128854456A>G" "" "benign" "" "0000256646" "0" "50" "7" "128488098" "128488098" "subst" "0" "01943" "FLNC_000165" "g.128488098A>G" "" "" "" "FLNC(NM_001458.4):c.4556A>G (p.Y1519C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128848044A>G" "" "VUS" "" "0000276770" "0" "10" "7" "128478103" "128478103" "subst" "0.0951245" "02330" "FLNC_000022" "g.128478103C>T" "" "" "" "FLNC(NM_001458.5):c.1032C>T (p.V344=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128838049C>T" "" "benign" "" "0000276771" "0" "10" "7" "128478820" "128478820" "subst" "0.00358571" "02330" "FLNC_000027" "g.128478820C>T" "" "" "" "FLNC(NM_001127487.1):c.1374C>T (p.(=)), FLNC(NM_001458.4):c.1374C>T (p.P458=), FLNC(NM_001458.5):c.1374C>T (p.P458=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128838766C>T" "" "benign" "" "0000276772" "0" "10" "7" "128480099" "128480099" "subst" "0.000130097" "02330" "FLNC_000028" "g.128480099C>T" "" "" "" "FLNC(NM_001127487.1):c.1434C>T (p.(Arg478=)), FLNC(NM_001458.4):c.1434C>T (p.R478=), FLNC(NM_001458.5):c.1434C>T (p.R478=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128840045C>T" "" "benign" "" "0000276773" "0" "10" "7" "128480123" "128480123" "subst" "0.0807128" "02330" "FLNC_000029" "g.128480123C>A" "" "" "" "FLNC(NM_001458.4):c.1458C>A (p.P486=), FLNC(NM_001458.5):c.1458C>A (p.P486=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128840069C>A" "" "benign" "" "0000276774" "0" "10" "7" "128470838" "128470838" "subst" "0.0933388" "02330" "FLNC_000012" "g.128470838C>T" "" "" "" "FLNC(NM_001458.5):c.147C>T (p.H49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128830784C>T" "" "benign" "" "0000276775" "0" "10" "7" "128480229" "128480229" "subst" "0.00418606" "02330" "FLNC_000032" "g.128480229C>A" "" "" "" "FLNC(NM_001127487.1):c.1549+15C>A (p.(=)), FLNC(NM_001458.4):c.1549+15C>A, FLNC(NM_001458.5):c.1549+15C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128840175C>A" "" "benign" "" "0000276776" "0" "10" "7" "128480666" "128480666" "subst" "0.0314081" "02330" "FLNC_000035" "g.128480666C>T" "" "" "" "FLNC(NM_001127487.1):c.1614C>T (p.(Tyr538=)), FLNC(NM_001458.5):c.1614C>T (p.Y538=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128840612C>T" "" "benign" "" "0000276777" "0" "10" "7" "128481312" "128481312" "subst" "0.00426031" "02330" "FLNC_000038" "g.128481312G>A" "" "" "" "FLNC(NM_001127487.1):c.1902G>A (p.(Glu634=)), FLNC(NM_001458.4):c.1902G>A (p.E634=), FLNC(NM_001458.5):c.1902G>A (p.E634=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128841258G>A" "" "benign" "" "0000276778" "0" "10" "7" "128482268" "128482268" "subst" "0.00833122" "02330" "FLNC_000041" "g.128482268T>C" "" "" "" "FLNC(NM_001458.5):c.2122-17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128842214T>C" "" "benign" "" "0000276779" "0" "10" "7" "128482440" "128482440" "subst" "0.125253" "02330" "FLNC_000046" "g.128482440C>G" "" "" "" "FLNC(NM_001458.5):c.2265+12C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128842386C>G" "" "benign" "" "0000276780" "0" "10" "7" "128482615" "128482615" "subst" "0.00220491" "02330" "FLNC_000047" "g.128482615G>C" "" "" "" "FLNC(NM_001458.5):c.2266-14G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128842561G>C" "" "benign" "" "0000276781" "0" "10" "7" "128482835" "128482835" "subst" "0.0314039" "02330" "FLNC_000050" "g.128482835C>T" "" "" "" "FLNC(NM_001127487.1):c.2390-13C>T (p.(=)), FLNC(NM_001458.4):c.2390-13C>T, FLNC(NM_001458.5):c.2390-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128842781C>T" "" "benign" "" "0000276782" "0" "10" "7" "128482839" "128482839" "subst" "0.00235479" "02330" "FLNC_000051" "g.128482839T>C" "" "" "" "FLNC(NM_001127487.1):c.2390-9T>C (p.(=)), FLNC(NM_001458.4):c.2390-9T>C, FLNC(NM_001458.5):c.2390-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128842785T>C" "" "benign" "" "0000276783" "0" "10" "7" "128482959" "128482959" "subst" "0.00822425" "02330" "FLNC_000055" "g.128482959C>T" "" "" "" "FLNC(NM_001127487.1):c.2501C>T (p.(Thr834Met)), FLNC(NM_001458.4):c.2501C>T (p.T834M), FLNC(NM_001458.5):c.2501C>T (p.T834M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128842905C>T" "" "benign" "" "0000276784" "0" "30" "7" "128485240" "128485240" "subst" "0.00592992" "02330" "FLNC_000067" "g.128485240C>T" "" "" "" "FLNC(NM_001127487.1):c.3721C>T (p.(Arg1241Cys)), FLNC(NM_001458.4):c.3721C>T (p.R1241C), FLNC(NM_001458.5):c.3721C>T (p.R1241C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128845186C>T" "" "likely benign" "" "0000276785" "0" "10" "7" "128485276" "128485276" "subst" "0.00131328" "02330" "FLNC_000068" "g.128485276G>A" "" "" "" "FLNC(NM_001458.4):c.3757G>A (p.V1253I), FLNC(NM_001458.5):c.3757G>A (p.V1253I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128845222G>A" "" "benign" "" "0000276786" "0" "10" "7" "128486026" "128486026" "subst" "0.000253712" "02330" "FLNC_000070" "g.128486026G>A" "" "" "" "FLNC(NM_001458.5):c.3791-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128845972G>A" "" "benign" "" "0000276787" "0" "10" "7" "128486091" "128486091" "subst" "0.0326152" "02330" "FLNC_000071" "g.128486091C>T" "" "" "" "FLNC(NM_001127487.1):c.3838C>T (p.(Leu1280=)), FLNC(NM_001458.5):c.3838C>T (p.L1280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128846037C>T" "" "benign" "" "0000276789" "0" "10" "7" "128486363" "128486363" "subst" "0.218347" "02330" "FLNC_000075" "g.128486363C>T" "" "" "" "FLNC(NM_001458.5):c.3973C>T (p.L1325=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128846309C>T" "" "benign" "" "0000276790" "0" "10" "7" "128486412" "128486412" "subst" "0.00103456" "02330" "FLNC_000076" "g.128486412G>A" "" "" "" "FLNC(NM_001458.4):c.4022G>A (p.R1341Q), FLNC(NM_001458.5):c.4022G>A (p.R1341Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128846358G>A" "" "benign" "" "0000276791" "0" "10" "7" "128486446" "128486446" "subst" "0.0881578" "02330" "FLNC_000077" "g.128486446C>T" "" "" "" "FLNC(NM_001458.5):c.4056C>T (p.R1352=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128846392C>T" "" "benign" "" "0000276792" "0" "10" "7" "128487764" "128487764" "subst" "0.0021259" "02330" "FLNC_000080" "g.128487764C>T" "" "" "" "FLNC(NM_001458.4):c.4302C>T (p.R1434=), FLNC(NM_001458.5):c.4302C>T (p.R1434=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128847710C>T" "" "benign" "" "0000276793" "0" "10" "7" "128487866" "128487866" "subst" "0.997808" "02330" "FLNC_000081" "g.128487866T>C" "" "" "" "FLNC(NM_001458.4):c.4404T>C (p.D1468=), FLNC(NM_001458.5):c.4404T>C (p.D1468=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128847812T>C" "" "benign" "" "0000276794" "0" "10" "7" "128487893" "128487893" "subst" "0.11685" "02330" "FLNC_000084" "g.128487893G>A" "" "" "" "FLNC(NM_001458.5):c.4431G>A (p.L1477=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128847839G>A" "" "benign" "" "0000276795" "0" "10" "7" "128488734" "128488734" "subst" "0.0745734" "02330" "FLNC_000087" "g.128488734G>A" "" "" "" "FLNC(NM_001458.5):c.4700G>A (p.R1567Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128848680G>A" "" "benign" "" "0000276796" "0" "50" "7" "128488920" "128488920" "subst" "0" "02330" "FLNC_000092" "g.128488920C>T" "" "" "" "FLNC(NM_001458.5):c.4811C>T (p.P1604L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128848866C>T" "" "VUS" "" "0000276797" "0" "10" "7" "128489228" "128489228" "subst" "0.00427144" "02330" "FLNC_000094" "g.128489228T>C" "" "" "" "FLNC(NM_001127487.1):c.4928-7T>C (p.(=)), FLNC(NM_001458.4):c.4928-7T>C, FLNC(NM_001458.5):c.4928-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128849174T>C" "" "benign" "" "0000276798" "0" "10" "7" "128489475" "128489475" "subst" "0.000544375" "02330" "FLNC_000097" "g.128489475C>G" "" "" "" "FLNC(NM_001458.4):c.5042C>G (p.T1681R), FLNC(NM_001458.5):c.5042C>G (p.T1681R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128849421C>G" "" "benign" "" "0000276799" "0" "10" "7" "128490553" "128490553" "subst" "0.252663" "02330" "FLNC_000099" "g.128490553T>C" "" "" "" "FLNC(NM_001458.5):c.5398+16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128850499T>C" "" "benign" "" "0000276800" "0" "10" "7" "128490840" "128490840" "subst" "0" "02330" "FLNC_000100" "g.128490840C>T" "" "" "" "FLNC(NM_001458.4):c.5399-17C>T, FLNC(NM_001458.5):c.5399-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128850786C>T" "" "benign" "" "0000276801" "0" "10" "7" "128491338" "128491338" "subst" "0.00763619" "02330" "FLNC_000102" "g.128491338C>T" "" "" "" "FLNC(NM_001458.5):c.5592C>T (p.A1864=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128851284C>T" "" "benign" "" "0000276802" "0" "10" "7" "128491497" "128491497" "subst" "0.0313582" "02330" "FLNC_000103" "g.128491497C>T" "" "" "" "FLNC(NM_001127487.1):c.5570-12C>T (p.(=)), FLNC(NM_001458.4):c.5669-12C>T, FLNC(NM_001458.5):c.5669-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128851443C>T" "" "benign" "" "0000276803" "0" "10" "7" "128491603" "128491603" "subst" "0.123524" "02330" "FLNC_000104" "g.128491603T>C" "" "" "" "FLNC(NM_001458.5):c.5763T>C (p.T1921=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128851549T>C" "" "benign" "" "0000276804" "0" "10" "7" "128477198" "128477198" "subst" "0" "02330" "FLNC_000015" "g.128477198T>A" "" "" "" "FLNC(NM_001458.4):c.602-16T>A, FLNC(NM_001458.5):c.602-16T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128837144T>A" "" "benign" "" "0000276805" "0" "30" "7" "128493052" "128493052" "subst" "0.000889208" "02330" "FLNC_000112" "g.128493052G>A" "" "" "" "FLNC(NM_001127487.1):c.6076G>A (p.(Val2026Met)), FLNC(NM_001458.4):c.6175G>A (p.V2059M), FLNC(NM_001458.5):c.6175G>A (p.V2059M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128852998G>A" "" "likely benign" "" "0000276806" "0" "10" "7" "128493623" "128493623" "subst" "0.00117394" "02330" "FLNC_000114" "g.128493623C>T" "" "" "" "FLNC(NM_001127487.1):c.6210C>T (p.(Thr2070=)), FLNC(NM_001458.4):c.6309C>T (p.T2103=), FLNC(NM_001458.5):c.6309C>T (p.T2103=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128853569C>T" "" "benign" "" "0000276807" "0" "10" "7" "128493866" "128493866" "subst" "0.00831491" "02330" "FLNC_000116" "g.128493866C>T" "" "" "" "FLNC(NM_001458.5):c.6459C>T (p.T2153=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128853812C>T" "" "benign" "" "0000276808" "0" "30" "7" "128494547" "128494547" "subst" "0.000710886" "02330" "FLNC_000121" "g.128494547G>A" "" "" "" "FLNC(NM_001458.4):c.6808G>A (p.E2270K), FLNC(NM_001458.5):c.6808G>A (p.E2270K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128854493G>A" "" "likely benign" "" "0000276809" "0" "50" "7" "128494563" "128494563" "subst" "0" "02330" "FLNC_000122" "g.128494563G>T" "" "" "" "FLNC(NM_001458.5):c.6824G>T (p.S2275I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128854509G>T" "" "VUS" "" "0000276810" "0" "50" "7" "128494616" "128494616" "subst" "0" "02330" "FLNC_000125" "g.128494616C>T" "" "" "" "FLNC(NM_001458.5):c.6877C>T (p.R2293C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128854562C>T" "" "VUS" "" "0000276811" "0" "90" "7" "128477309" "128477309" "subst" "0" "02330" "FLNC_000016" "g.128477309C>T" "" "" "" "FLNC(NM_001458.5):c.697C>T (p.Q233*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128837255C>T" "" "pathogenic" "" "0000276812" "0" "10" "7" "128494922" "128494922" "subst" "0.00173517" "02330" "FLNC_000129" "g.128494922G>A" "" "" "" "FLNC(NM_001127487.1):c.6992G>A (p.(Arg2331His)), FLNC(NM_001458.4):c.7091G>A (p.R2364H), FLNC(NM_001458.5):c.7091G>A (p.R2364H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128854868G>A" "" "benign" "" "0000276813" "0" "10" "7" "128477472" "128477472" "subst" "0.105112" "02330" "FLNC_000017" "g.128477472T>C" "" "" "" "FLNC(NM_001458.5):c.720T>C (p.I240=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128837418T>C" "" "benign" "" "0000276814" "0" "10" "7" "128495338" "128495338" "subst" "0.116836" "02330" "FLNC_000131" "g.128495338C>T" "" "" "" "FLNC(NM_001458.5):c.7221C>T (p.D2407=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128855284C>T" "" "benign" "" "0000276815" "0" "10" "7" "128477547" "128477547" "subst" "0.104798" "02330" "FLNC_000018" "g.128477547T>C" "" "" "" "FLNC(NM_001458.5):c.795T>C (p.G265=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128837493T>C" "" "benign" "" "0000276816" "0" "10" "7" "128498371" "128498371" "subst" "0.000359063" "02330" "FLNC_000140" "g.128498371C>T" "" "" "" "FLNC(NM_001127487.1):c.7892-19C>T (p.(=)), FLNC(NM_001458.4):c.7991-19C>T, FLNC(NM_001458.5):c.7991-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128858317C>T" "" "benign" "" "0000276817" "0" "10" "7" "128498517" "128498517" "subst" "0.00951282" "02330" "FLNC_000142" "g.128498517C>T" "" "" "" "FLNC(NM_001127487.1):c.8019C>T (p.(Leu2673=)), FLNC(NM_001458.5):c.8118C>T (p.L2706=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128858463C>T" "" "benign" "" "0000276818" "0" "10" "7" "128477620" "128477620" "subst" "0.0785663" "02330" "FLNC_000019" "g.128477620G>A" "" "" "" "FLNC(NM_001458.5):c.850+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128837566G>A" "" "benign" "" "0000276819" "0" "10" "7" "128470787" "128470787" "subst" "6.11751E-5" "02330" "FLNC_000011" "g.128470787G>A" "" "" "" "FLNC(NM_001458.4):c.96G>A (p.A32=), FLNC(NM_001458.5):c.96G>A (p.A32=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128830733G>A" "" "benign" "" "0000280833" "0" "10" "7" "128487866" "128487866" "subst" "0.997808" "02325" "FLNC_000081" "g.128487866T>C" "" "" "" "FLNC(NM_001458.4):c.4404T>C (p.D1468=), FLNC(NM_001458.5):c.4404T>C (p.D1468=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128847812T>C" "" "benign" "" "0000283991" "0" "30" "7" "128470605" "128470605" "subst" "0" "02326" "FLNC_000010" "g.128470605C>G" "" "" "" "FLNC(NM_001458.4):c.-87C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128830551C>G" "" "likely benign" "" "0000283993" "0" "30" "7" "128478354" "128478354" "subst" "0.000162444" "02326" "FLNC_000023" "g.128478354C>T" "" "" "" "FLNC(NM_001458.4):c.1081C>T (p.R361C), FLNC(NM_001458.5):c.1081C>T (p.R361C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128838300C>T" "" "likely benign" "" "0000283994" "0" "10" "7" "128480123" "128480123" "subst" "0.0807128" "02326" "FLNC_000029" "g.128480123C>A" "" "" "" "FLNC(NM_001458.4):c.1458C>A (p.P486=), FLNC(NM_001458.5):c.1458C>A (p.P486=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128840069C>A" "" "benign" "" "0000283995" "0" "50" "7" "128480136" "128480136" "subst" "4.875E-5" "02326" "FLNC_000031" "g.128480136G>A" "" "" "" "FLNC(NM_001458.4):c.1471G>A (p.(Val491Met), p.V491M), FLNC(NM_001458.5):c.1471G>A (p.V491M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128840082G>A" "" "VUS" "" "0000283996" "0" "10" "7" "128480229" "128480229" "subst" "0.00418606" "02326" "FLNC_000032" "g.128480229C>A" "" "" "" "FLNC(NM_001127487.1):c.1549+15C>A (p.(=)), FLNC(NM_001458.4):c.1549+15C>A, FLNC(NM_001458.5):c.1549+15C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128840175C>A" "" "benign" "" "0000283997" "0" "50" "7" "128480657" "128480657" "subst" "5.68542E-5" "02326" "FLNC_000034" "g.128480657C>T" "" "" "" "FLNC(NM_001458.4):c.1605C>T (p.C535=), FLNC(NM_001458.5):c.1605C>T (p.C535=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128840603C>T" "" "VUS" "" "0000283998" "0" "50" "7" "128480725" "128480725" "subst" "3.65571E-5" "02326" "FLNC_000036" "g.128480725G>A" "" "" "" "FLNC(NM_001458.4):c.1673G>A (p.(Arg558His), p.R558H), FLNC(NM_001458.5):c.1673G>A (p.R558H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128840671G>A" "" "VUS" "" "0000283999" "0" "50" "7" "128481334" "128481334" "subst" "3.6553E-5" "02326" "FLNC_000039" "g.128481334G>A" "" "" "" "FLNC(NM_001458.4):c.1924G>A (p.V642I), FLNC(NM_001458.5):c.1924G>A (p.V642I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128841280G>A" "" "VUS" "" "0000284000" "0" "30" "7" "128482288" "128482288" "subst" "0.00108005" "02326" "FLNC_000042" "g.128482288G>A" "" "" "" "FLNC(NM_001127487.1):c.2125G>A (p.(Ala709Thr)), FLNC(NM_001458.4):c.2125G>A (p.A709T), FLNC(NM_001458.5):c.2125G>A (p.A709T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128842234G>A" "" "likely benign" "" "0000284001" "0" "30" "7" "128482291" "128482291" "subst" "0.000321826" "02326" "FLNC_000043" "g.128482291G>A" "" "" "" "FLNC(NM_001458.4):c.2128G>A (p.D710N), FLNC(NM_001458.5):c.2128G>A (p.D710N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128842237G>A" "" "likely benign" "" "0000284002" "0" "30" "7" "128482764" "128482764" "subst" "0.00096198" "02326" "FLNC_000048" "g.128482764C>T" "" "" "" "FLNC(NM_001458.4):c.2389+12C>T, FLNC(NM_001458.5):c.2389+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128842710C>T" "" "likely benign" "" "0000284003" "0" "10" "7" "128482835" "128482835" "subst" "0.0314039" "02326" "FLNC_000050" "g.128482835C>T" "" "" "" "FLNC(NM_001127487.1):c.2390-13C>T (p.(=)), FLNC(NM_001458.4):c.2390-13C>T, FLNC(NM_001458.5):c.2390-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128842781C>T" "" "benign" "" "0000284004" "0" "10" "7" "128482834" "128482834" "subst" "0.0101949" "02326" "FLNC_000049" "g.128482834C>T" "" "" "" "FLNC(NM_001127487.1):c.2390-14C>T (p.(=)), FLNC(NM_001458.4):c.2390-14C>T, FLNC(NM_001458.5):c.2390-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128842780C>T" "" "benign" "" "0000284005" "0" "30" "7" "128482840" "128482840" "subst" "0.000588586" "02326" "FLNC_000052" "g.128482840C>G" "" "" "" "FLNC(NM_001458.4):c.2390-8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128842786C>G" "" "likely benign" "" "0000284006" "0" "10" "7" "128482839" "128482839" "subst" "0.00235479" "02326" "FLNC_000051" "g.128482839T>C" "" "" "" "FLNC(NM_001127487.1):c.2390-9T>C (p.(=)), FLNC(NM_001458.4):c.2390-9T>C, FLNC(NM_001458.5):c.2390-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128842785T>C" "" "benign" "" "0000284007" "0" "50" "7" "128482883" "128482883" "subst" "1.6267E-5" "02326" "FLNC_000054" "g.128482883G>A" "" "" "" "FLNC(NM_001458.4):c.2425G>A (p.V809M), FLNC(NM_001458.5):c.2425G>A (p.V809M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128842829G>A" "" "VUS" "" "0000284008" "0" "30" "7" "128482959" "128482959" "subst" "0.00822425" "02326" "FLNC_000055" "g.128482959C>T" "" "" "" "FLNC(NM_001127487.1):c.2501C>T (p.(Thr834Met)), FLNC(NM_001458.4):c.2501C>T (p.T834M), FLNC(NM_001458.5):c.2501C>T (p.T834M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128842905C>T" "" "likely benign" "" "0000284009" "0" "30" "7" "128483264" "128483264" "subst" "0" "02326" "FLNC_000056" "g.128483264G>C" "" "" "" "FLNC(NM_001458.4):c.2551-19G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128843210G>C" "" "likely benign" "" "0000284010" "0" "30" "7" "128483349" "128483349" "subst" "4.1263E-6" "02326" "FLNC_000057" "g.128483349G>A" "" "" "" "FLNC(NM_001458.4):c.2617G>A (p.E873K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128843295G>A" "" "likely benign" "" "0000284011" "0" "50" "7" "128483359" "128483359" "subst" "0" "02326" "FLNC_000058" "g.128483359G>T" "" "" "" "FLNC(NM_001458.4):c.2627G>T (p.G876V), FLNC(NM_001458.5):c.2627G>T (p.G876V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128843305G>T" "" "VUS" "" "0000284012" "0" "10" "7" "128483927" "128483927" "subst" "0.00069863" "02326" "FLNC_000059" "g.128483927G>A" "" "" "" "FLNC(NM_001458.4):c.2889G>A (p.P963=), FLNC(NM_001458.5):c.2889G>A (p.P963=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128843873G>A" "" "benign" "" "0000284013" "0" "50" "7" "128484132" "128484132" "subst" "1.22032E-5" "02326" "FLNC_000061" "g.128484132C>T" "" "" "" "FLNC(NM_001458.4):c.3004C>T (p.R1002W), FLNC(NM_001458.5):c.3004C>T (p.R1002W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128844078C>T" "" "VUS" "" "0000284014" "0" "50" "7" "128484150" "128484150" "subst" "1.6282E-5" "02326" "FLNC_000062" "g.128484150C>T" "" "" "" "FLNC(NM_001458.4):c.3022C>T (p.R1008C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128844096C>T" "" "VUS" "" "0000284015" "0" "30" "7" "128484281" "128484281" "subst" "6.57322E-5" "02326" "FLNC_000065" "g.128484281G>A" "" "" "" "FLNC(NM_001458.4):c.3153G>A (p.P1051=), FLNC(NM_001458.5):c.3153G>A (p.P1051=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128844227G>A" "" "likely benign" "" "0000284016" "0" "10" "7" "128485240" "128485240" "subst" "0.00592992" "02326" "FLNC_000067" "g.128485240C>T" "" "" "" "FLNC(NM_001127487.1):c.3721C>T (p.(Arg1241Cys)), FLNC(NM_001458.4):c.3721C>T (p.R1241C), FLNC(NM_001458.5):c.3721C>T (p.R1241C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128845186C>T" "" "benign" "" "0000284017" "0" "10" "7" "128485284" "128485284" "subst" "0.00144092" "02326" "FLNC_000069" "g.128485284C>A" "" "" "" "FLNC(NM_001458.4):c.3765C>A (p.V1255=), FLNC(NM_001458.5):c.3765C>A (p.V1255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128845230C>A" "" "benign" "" "0000284018" "0" "30" "7" "128486191" "128486191" "subst" "0.000203343" "02326" "FLNC_000072" "g.128486191G>A" "" "" "" "FLNC(NM_001127487.1):c.3938G>A (p.(Arg1313Gln)), FLNC(NM_001458.4):c.3938G>A (p.R1313Q), FLNC(NM_001458.5):c.3938G>A (p.R1313Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128846137G>A" "" "likely benign" "" "0000284019" "0" "30" "7" "128486412" "128486412" "subst" "0.00103456" "02326" "FLNC_000076" "g.128486412G>A" "" "" "" "FLNC(NM_001458.4):c.4022G>A (p.R1341Q), FLNC(NM_001458.5):c.4022G>A (p.R1341Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128846358G>A" "" "likely benign" "" "0000284020" "0" "30" "7" "128486824" "128486824" "subst" "0.000247972" "02326" "FLNC_000078" "g.128486824C>T" "" "" "" "FLNC(NM_001458.4):c.4153C>T (p.L1385=), FLNC(NM_001458.5):c.4153C>T (p.L1385=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128846770C>T" "" "likely benign" "" "0000284021" "0" "30" "7" "128487758" "128487758" "subst" "0.000117905" "02326" "FLNC_000079" "g.128487758G>A" "" "" "" "FLNC(NM_001458.4):c.4296G>A (p.P1432=), FLNC(NM_001458.5):c.4296G>A (p.P1432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128847704G>A" "" "likely benign" "" "0000284023" "0" "10" "7" "128487866" "128487866" "subst" "0.997808" "02326" "FLNC_000081" "g.128487866T>C" "" "" "" "FLNC(NM_001458.4):c.4404T>C (p.D1468=), FLNC(NM_001458.5):c.4404T>C (p.D1468=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128847812T>C" "" "benign" "" "0000284024" "0" "50" "7" "128487880" "128487880" "subst" "0" "02326" "FLNC_000083" "g.128487880G>A" "" "" "" "FLNC(NM_001458.4):c.4418G>A (p.G1473D), FLNC(NM_001458.5):c.4418G>A (p.G1473D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128847826G>A" "" "VUS" "" "0000284025" "0" "50" "7" "128488023" "128488023" "subst" "4.12531E-6" "02326" "FLNC_000085" "g.128488023G>A" "" "" "" "FLNC(NM_001458.4):c.4481G>A (p.R1494Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128847969G>A" "" "VUS" "" "0000284026" "0" "50" "7" "128488739" "128488739" "subst" "3.26107E-5" "02326" "FLNC_000088" "g.128488739G>A" "" "" "" "FLNC(NM_001458.4):c.4705G>A (p.A1569T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128848685G>A" "" "VUS" "" "0000284027" "0" "30" "7" "128488762" "128488762" "subst" "4.0701E-6" "02326" "FLNC_000089" "g.128488762C>T" "" "" "" "FLNC(NM_001458.4):c.4728C>T (p.V1576=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128848708C>T" "" "likely benign" "" "0000284028" "0" "50" "7" "128488850" "128488850" "subst" "4.06402E-6" "02326" "FLNC_000091" "g.128488850C>A" "" "" "" "FLNC(NM_001458.4):c.4741C>A (p.P1581T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128848796C>A" "" "VUS" "" "0000284029" "0" "30" "7" "128489228" "128489228" "subst" "0.00427144" "02326" "FLNC_000094" "g.128489228T>C" "" "" "" "FLNC(NM_001127487.1):c.4928-7T>C (p.(=)), FLNC(NM_001458.4):c.4928-7T>C, FLNC(NM_001458.5):c.4928-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128849174T>C" "" "likely benign" "" "0000284030" "0" "10" "7" "128489254" "128489254" "subst" "0.00130302" "02326" "FLNC_000095" "g.128489254C>T" "" "" "" "FLNC(NM_001127487.1):c.4947C>T (p.(Gly1649=)), FLNC(NM_001458.4):c.4947C>T (p.G1649=), FLNC(NM_001458.5):c.4947C>T (p.G1649=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128849200C>T" "" "benign" "" "0000284031" "0" "30" "7" "128489424" "128489424" "subst" "6.91119E-5" "02326" "FLNC_000096" "g.128489424C>T" "" "" "" "FLNC(NM_001458.4):c.4991C>T (p.T1664M), FLNC(NM_001458.5):c.4991C>T (p.T1664M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128849370C>T" "" "likely benign" "" "0000284032" "0" "30" "7" "128490103" "128490103" "subst" "0" "02326" "FLNC_000098" "g.128490103G>A" "" "" "" "FLNC(NM_001458.4):c.5273G>A (p.R1758Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128850049G>A" "" "likely benign" "" "0000284033" "0" "30" "7" "128490840" "128490840" "subst" "0" "02326" "FLNC_000100" "g.128490840C>T" "" "" "" "FLNC(NM_001458.4):c.5399-17C>T, FLNC(NM_001458.5):c.5399-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128850786C>T" "" "likely benign" "" "0000284034" "0" "30" "7" "128491324" "128491324" "subst" "0.00525999" "02326" "FLNC_000101" "g.128491324C>T" "" "" "" "FLNC(NM_001127487.1):c.5479C>T (p.(Arg1827Cys)), FLNC(NM_001458.4):c.5578C>T (p.R1860C), FLNC(NM_001458.5):c.5578C>T (p.R1860C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128851270C>T" "" "likely benign" "" "0000284035" "0" "10" "7" "128475588" "128475588" "subst" "0.00239093" "02326" "FLNC_000013" "g.128475588C>T" "" "" "" "FLNC(NM_001458.4):c.561C>T (p.D187=), FLNC(NM_001458.5):c.561C>T (p.D187=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128835534C>T" "" "benign" "" "0000284036" "0" "10" "7" "128491497" "128491497" "subst" "0.0313582" "02326" "FLNC_000103" "g.128491497C>T" "" "" "" "FLNC(NM_001127487.1):c.5570-12C>T (p.(=)), FLNC(NM_001458.4):c.5669-12C>T, FLNC(NM_001458.5):c.5669-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128851443C>T" "" "benign" "" "0000284037" "0" "10" "7" "128491606" "128491606" "subst" "0.000881211" "02326" "FLNC_000105" "g.128491606G>A" "" "" "" "FLNC(NM_001127487.1):c.5667G>A (p.(Ala1889=)), FLNC(NM_001458.4):c.5766G>A (p.A1922=), FLNC(NM_001458.5):c.5766G>A (p.A1922=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128851552G>A" "" "benign" "" "0000284038" "0" "30" "7" "128491631" "128491631" "subst" "4.46726E-5" "02326" "FLNC_000106" "g.128491631C>T" "" "" "" "FLNC(NM_001458.4):c.5791C>T (p.R1931C), FLNC(NM_001458.5):c.5791C>T (p.R1931C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128851577C>T" "" "likely benign" "" "0000284039" "0" "30" "7" "128475624" "128475624" "subst" "0.00187891" "02326" "FLNC_000014" "g.128475624C>T" "" "" "" "FLNC(NM_001127487.1):c.597C>T (p.(Ala199=)), FLNC(NM_001458.4):c.597C>T (p.A199=), FLNC(NM_001458.5):c.597C>T (p.A199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128835570C>T" "" "likely benign" "" "0000284040" "0" "10" "7" "128492817" "128492817" "subst" "0.0072462" "02326" "FLNC_000107" "g.128492817G>A" "" "" "" "FLNC(NM_001127487.1):c.5905+11G>A (p.(=)), FLNC(NM_001458.4):c.6004+11G>A, FLNC(NM_001458.5):c.6004+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128852763G>A" "" "benign" "" "0000284041" "0" "30" "7" "128492868" "128492868" "subst" "0" "02326" "FLNC_000109" "g.128492868C>T" "" "" "" "FLNC(NM_001458.4):c.6005-14C>T, FLNC(NM_001458.5):c.6005-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128852814C>T" "" "likely benign" "" "0000284042" "0" "30" "7" "128477198" "128477198" "subst" "0" "02326" "FLNC_000015" "g.128477198T>A" "" "" "" "FLNC(NM_001458.4):c.602-16T>A, FLNC(NM_001458.5):c.602-16T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128837144T>A" "" "likely benign" "" "0000284043" "0" "70" "7" "128492977" "128492977" "subst" "0" "02326" "FLNC_000110" "g.128492977G>C" "" "" "" "FLNC(NM_001458.4):c.6100G>C (p.G2034R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128852923G>C" "" "likely pathogenic" "" "0000284044" "0" "30" "7" "128493052" "128493052" "subst" "0.000889208" "02326" "FLNC_000112" "g.128493052G>A" "" "" "" "FLNC(NM_001127487.1):c.6076G>A (p.(Val2026Met)), FLNC(NM_001458.4):c.6175G>A (p.V2059M), FLNC(NM_001458.5):c.6175G>A (p.V2059M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128852998G>A" "" "likely benign" "" "0000284045" "0" "10" "7" "128493623" "128493623" "subst" "0.00117394" "02326" "FLNC_000114" "g.128493623C>T" "" "" "" "FLNC(NM_001127487.1):c.6210C>T (p.(Thr2070=)), FLNC(NM_001458.4):c.6309C>T (p.T2103=), FLNC(NM_001458.5):c.6309C>T (p.T2103=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128853569C>T" "" "benign" "" "0000284046" "0" "30" "7" "128493794" "128493794" "subst" "0.000203143" "02326" "FLNC_000115" "g.128493794C>T" "" "" "" "FLNC(NM_001458.4):c.6387C>T (p.T2129=), FLNC(NM_001458.5):c.6387C>T (p.T2129=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128853740C>T" "" "likely benign" "" "0000284047" "0" "70" "7" "128494157" "128494165" "del" "0" "02326" "FLNC_000117" "g.128494157_128494165del" "" "" "" "FLNC(NM_001458.4):c.6614_6622delTGCGGGTGG (p.V2205_V2207del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128854103_128854111del" "" "likely pathogenic" "" "0000284048" "0" "30" "7" "128494176" "128494176" "subst" "0" "02326" "FLNC_000118" "g.128494176C>T" "" "" "" "FLNC(NM_001458.4):c.6633C>T (p.T2211=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128854122C>T" "" "likely benign" "" "0000284049" "0" "30" "7" "128494358" "128494358" "subst" "0" "02326" "FLNC_000119" "g.128494358G>A" "" "" "" "FLNC(NM_001458.4):c.6727+88G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128854304G>A" "" "likely benign" "" "0000284050" "0" "50" "7" "128494564" "128494564" "subst" "4.43314E-6" "02326" "FLNC_000123" "g.128494564C>A" "" "" "" "FLNC(NM_001458.4):c.6825C>A (p.S2275R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128854510C>A" "" "VUS" "" "0000284051" "0" "30" "7" "128494603" "128494603" "subst" "4.76009E-5" "02326" "FLNC_000124" "g.128494603C>T" "" "" "" "FLNC(NM_001458.4):c.6864C>T (p.V2288=), FLNC(NM_001458.5):c.6864C>T (p.V2288=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128854549C>T" "" "likely benign" "" "0000284052" "0" "30" "7" "128494727" "128494727" "subst" "0.000673782" "02326" "FLNC_000127" "g.128494727G>A" "" "" "" "FLNC(NM_001127487.1):c.6889G>A (p.(Gly2297Ser)), FLNC(NM_001458.4):c.6988G>A (p.G2330S), FLNC(NM_001458.5):c.6988G>A (p.G2330S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128854673G>A" "" "likely benign" "" "0000284053" "0" "30" "7" "128494939" "128494939" "subst" "3.65631E-5" "02326" "FLNC_000130" "g.128494939G>A" "" "" "" "FLNC(NM_001458.4):c.7108G>A (p.G2370S), FLNC(NM_001458.5):c.7108G>A (p.G2370S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128854885G>A" "" "likely benign" "" "0000284054" "0" "30" "7" "128497219" "128497219" "subst" "0.0012837" "02326" "FLNC_000132" "g.128497219G>A" "" "" "" "FLNC(NM_001458.4):c.7609G>A (p.A2537T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128857165G>A" "" "likely benign" "" "0000284055" "0" "30" "7" "128497246" "128497246" "subst" "0.000175873" "02326" "FLNC_000133" "g.128497246T>A" "" "" "" "FLNC(NM_001458.4):c.7636T>A (p.S2546T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128857192T>A" "" "likely benign" "" "0000284056" "0" "30" "7" "128497267" "128497267" "subst" "0" "02326" "FLNC_000134" "g.128497267C>T" "" "" "" "FLNC(NM_001458.4):c.7657C>T (p.R2553W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128857213C>T" "" "likely benign" "" "0000284057" "0" "50" "7" "128497288" "128497288" "subst" "0" "02326" "FLNC_000135" "g.128497288G>A" "" "" "" "FLNC(NM_001458.4):c.7678G>A (p.V2560M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128857234G>A" "" "VUS" "" "0000284058" "0" "30" "7" "128498075" "128498075" "subst" "0" "02326" "FLNC_000137" "g.128498075C>T" "" "" "" "FLNC(NM_001458.4):c.7794C>T (p.S2598=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128858021C>T" "" "likely benign" "" "0000284059" "0" "30" "7" "128477823" "128477823" "subst" "0.000193515" "02326" "FLNC_000020" "g.128477823G>T" "" "" "" "FLNC(NM_001458.4):c.969+14G>T, FLNC(NM_001458.5):c.969+14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128837769G>T" "" "likely benign" "" "0000284060" "0" "30" "7" "128470787" "128470787" "subst" "6.11751E-5" "02326" "FLNC_000011" "g.128470787G>A" "" "" "" "FLNC(NM_001458.4):c.96G>A (p.A32=), FLNC(NM_001458.5):c.96G>A (p.A32=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128830733G>A" "" "likely benign" "" "0000287756" "0" "50" "7" "128478671" "128478671" "subst" "4.09102E-6" "01943" "FLNC_000026" "g.128478671G>A" "" "" "" "FLNC(NM_001458.4):c.1225G>A (p.D409N), FLNC(NM_001458.5):c.1225G>A (p.D409N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128838617G>A" "" "VUS" "" "0000287757" "0" "50" "7" "128481296" "128481296" "subst" "4.8742E-5" "01943" "FLNC_000037" "g.128481296G>A" "" "" "" "FLNC(NM_001458.4):c.1886G>A (p.R629Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128841242G>A" "" "VUS" "" "0000287758" "0" "30" "7" "128481312" "128481312" "subst" "0.00426031" "01943" "FLNC_000038" "g.128481312G>A" "" "" "" "FLNC(NM_001127487.1):c.1902G>A (p.(Glu634=)), FLNC(NM_001458.4):c.1902G>A (p.E634=), FLNC(NM_001458.5):c.1902G>A (p.E634=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128841258G>A" "" "likely benign" "" "0000287759" "0" "30" "7" "128482343" "128482343" "subst" "0.000284608" "01943" "FLNC_000044" "g.128482343G>A" "" "" "" "FLNC(NM_001458.4):c.2180G>A (p.R727H), FLNC(NM_001458.5):c.2180G>A (p.R727H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128842289G>A" "" "likely benign" "" "0000287760" "0" "30" "7" "128482839" "128482839" "subst" "0.00235479" "01943" "FLNC_000051" "g.128482839T>C" "" "" "" "FLNC(NM_001127487.1):c.2390-9T>C (p.(=)), FLNC(NM_001458.4):c.2390-9T>C, FLNC(NM_001458.5):c.2390-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128842785T>C" "" "likely benign" "" "0000287761" "0" "30" "7" "128482861" "128482861" "subst" "2.84979E-5" "01943" "FLNC_000053" "g.128482861C>T" "" "" "" "FLNC(NM_001458.4):c.2403C>T (p.I801=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128842807C>T" "" "likely benign" "" "0000287762" "0" "30" "7" "128484190" "128484190" "subst" "2.03741E-5" "01943" "FLNC_000063" "g.128484190C>T" "" "" "" "FLNC(NM_001458.4):c.3062C>T (p.A1021V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128844136C>T" "" "likely benign" "" "0000287763" "0" "10" "7" "128486226" "128486226" "subst" "0.00098802" "01943" "FLNC_000073" "g.128486226C>T" "" "" "" "FLNC(NM_001458.4):c.3964+9C>T, FLNC(NM_001458.5):c.3964+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128846172C>T" "" "benign" "" "0000287764" "0" "10" "7" "128487764" "128487764" "subst" "0.0021259" "01943" "FLNC_000080" "g.128487764C>T" "" "" "" "FLNC(NM_001458.4):c.4302C>T (p.R1434=), FLNC(NM_001458.5):c.4302C>T (p.R1434=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128847710C>T" "" "benign" "" "0000287765" "0" "30" "7" "128488610" "128488610" "subst" "0.00026852" "01943" "FLNC_000086" "g.128488610T>A" "" "" "" "FLNC(NM_001458.4):c.4581-5T>A, FLNC(NM_001458.5):c.4581-5T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128848556T>A" "" "likely benign" "" "0000287766" "0" "10" "7" "128488780" "128488781" "del" "0" "01943" "FLNC_000090" "g.128488780_128488781del" "" "" "" "FLNC(NM_001458.4):c.4737+9_4737+10delCT, FLNC(NM_001458.5):c.4737+9_4737+10delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128848726_128848727del" "" "benign" "" "0000287767" "0" "50" "7" "128488989" "128488989" "subst" "0" "01943" "FLNC_000093" "g.128488989G>T" "" "" "" "FLNC(NM_001458.4):c.4880G>T (p.R1627L), FLNC(NM_001458.5):c.4880G>T (p.R1627L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128848935G>T" "" "VUS" "" "0000287768" "0" "10" "7" "128489228" "128489228" "subst" "0.00427144" "01943" "FLNC_000094" "g.128489228T>C" "" "" "" "FLNC(NM_001127487.1):c.4928-7T>C (p.(=)), FLNC(NM_001458.4):c.4928-7T>C, FLNC(NM_001458.5):c.4928-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128849174T>C" "" "benign" "" "0000287769" "0" "30" "7" "128491324" "128491324" "subst" "0.00525999" "01943" "FLNC_000101" "g.128491324C>T" "" "" "" "FLNC(NM_001127487.1):c.5479C>T (p.(Arg1827Cys)), FLNC(NM_001458.4):c.5578C>T (p.R1860C), FLNC(NM_001458.5):c.5578C>T (p.R1860C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128851270C>T" "" "likely benign" "" "0000287770" "0" "30" "7" "128475624" "128475624" "subst" "0.00187891" "01943" "FLNC_000014" "g.128475624C>T" "" "" "" "FLNC(NM_001127487.1):c.597C>T (p.(Ala199=)), FLNC(NM_001458.4):c.597C>T (p.A199=), FLNC(NM_001458.5):c.597C>T (p.A199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128835570C>T" "" "likely benign" "" "0000287771" "0" "50" "7" "128493010" "128493010" "subst" "8.13213E-6" "01943" "FLNC_000111" "g.128493010C>T" "" "" "" "FLNC(NM_001458.4):c.6133C>T (p.R2045W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128852956C>T" "" "VUS" "" "0000287772" "0" "50" "7" "128493082" "128493082" "subst" "0" "01943" "FLNC_000113" "g.128493082G>A" "" "" "" "FLNC(NM_001458.4):c.6205G>A (p.A2069T), FLNC(NM_001458.5):c.6205G>A (p.A2069T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128853028G>A" "" "VUS" "" "0000287773" "0" "30" "7" "128498228" "128498228" "subst" "0.000586793" "01943" "FLNC_000139" "g.128498228C>T" "" "" "" "FLNC(NM_001458.4):c.7947C>T (p.F2649=), FLNC(NM_001458.5):c.7947C>T (p.F2649=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128858174C>T" "" "likely benign" "" "0000331861" "0" "50" "7" "128478048" "128478048" "subst" "5.28283E-5" "01804" "FLNC_000021" "g.128478048T>C" "" "" "" "FLNC(NM_001127487.1):c.977T>C (p.(Val326Ala)), FLNC(NM_001458.4):c.977T>C (p.V326A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128837994T>C" "" "VUS" "" "0000331862" "0" "30" "7" "128480135" "128480135" "subst" "2.84361E-5" "01804" "FLNC_000030" "g.128480135C>T" "" "" "" "FLNC(NM_001127487.1):c.1470C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128840081C>T" "" "likely benign" "" "0000331863" "0" "30" "7" "128480229" "128480229" "subst" "0.00418606" "01804" "FLNC_000032" "g.128480229C>A" "" "" "" "FLNC(NM_001127487.1):c.1549+15C>A (p.(=)), FLNC(NM_001458.4):c.1549+15C>A, FLNC(NM_001458.5):c.1549+15C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128840175C>A" "" "likely benign" "" "0000331864" "0" "30" "7" "128480629" "128480629" "subst" "0.00231893" "01804" "FLNC_000033" "g.128480629G>A" "" "" "" "FLNC(NM_001127487.1):c.1577G>A (p.(Arg526Gln)), FLNC(NM_001458.4):c.1577G>A (p.R526Q), FLNC(NM_001458.5):c.1577G>A (p.R526Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128840575G>A" "" "likely benign" "" "0000331865" "0" "30" "7" "128480666" "128480666" "subst" "0.0314081" "01804" "FLNC_000035" "g.128480666C>T" "" "" "" "FLNC(NM_001127487.1):c.1614C>T (p.(Tyr538=)), FLNC(NM_001458.5):c.1614C>T (p.Y538=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128840612C>T" "" "likely benign" "" "0000331866" "0" "30" "7" "128481312" "128481312" "subst" "0.00426031" "01804" "FLNC_000038" "g.128481312G>A" "" "" "" "FLNC(NM_001127487.1):c.1902G>A (p.(Glu634=)), FLNC(NM_001458.4):c.1902G>A (p.E634=), FLNC(NM_001458.5):c.1902G>A (p.E634=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128841258G>A" "" "likely benign" "" "0000331868" "0" "30" "7" "128482834" "128482834" "subst" "0.0101949" "01804" "FLNC_000049" "g.128482834C>T" "" "" "" "FLNC(NM_001127487.1):c.2390-14C>T (p.(=)), FLNC(NM_001458.4):c.2390-14C>T, FLNC(NM_001458.5):c.2390-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128842780C>T" "" "likely benign" "" "0000331869" "0" "30" "7" "128482835" "128482835" "subst" "0.0314039" "01804" "FLNC_000050" "g.128482835C>T" "" "" "" "FLNC(NM_001127487.1):c.2390-13C>T (p.(=)), FLNC(NM_001458.4):c.2390-13C>T, FLNC(NM_001458.5):c.2390-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128842781C>T" "" "likely benign" "" "0000331871" "0" "30" "7" "128486091" "128486091" "subst" "0.0326152" "01804" "FLNC_000071" "g.128486091C>T" "" "" "" "FLNC(NM_001127487.1):c.3838C>T (p.(Leu1280=)), FLNC(NM_001458.5):c.3838C>T (p.L1280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128846037C>T" "" "likely benign" "" "0000331872" "0" "30" "7" "128489228" "128489228" "subst" "0.00427144" "01804" "FLNC_000094" "g.128489228T>C" "" "" "" "FLNC(NM_001127487.1):c.4928-7T>C (p.(=)), FLNC(NM_001458.4):c.4928-7T>C, FLNC(NM_001458.5):c.4928-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128849174T>C" "" "likely benign" "" "0000331873" "0" "30" "7" "128491324" "128491324" "subst" "0.00525999" "01804" "FLNC_000101" "g.128491324C>T" "" "" "" "FLNC(NM_001127487.1):c.5479C>T (p.(Arg1827Cys)), FLNC(NM_001458.4):c.5578C>T (p.R1860C), FLNC(NM_001458.5):c.5578C>T (p.R1860C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128851270C>T" "" "likely benign" "" "0000331874" "0" "30" "7" "128491497" "128491497" "subst" "0.0313582" "01804" "FLNC_000103" "g.128491497C>T" "" "" "" "FLNC(NM_001127487.1):c.5570-12C>T (p.(=)), FLNC(NM_001458.4):c.5669-12C>T, FLNC(NM_001458.5):c.5669-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128851443C>T" "" "likely benign" "" "0000331875" "0" "30" "7" "128492825" "128492825" "subst" "0.0117504" "01804" "FLNC_000108" "g.128492825G>A" "" "" "" "FLNC(NM_001127487.1):c.5905+19G>A (p.(=)), FLNC(NM_001458.5):c.6004+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128852771G>A" "" "likely benign" "" "0000331877" "0" "30" "7" "128494869" "128494869" "subst" "7.71956E-5" "01804" "FLNC_000128" "g.128494869C>A" "" "" "" "FLNC(NM_001127487.1):c.6939C>A (p.(Gly2313=)), FLNC(NM_001458.4):c.7038C>A (p.G2346=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128854815C>A" "" "likely benign" "" "0000331878" "0" "50" "7" "128494922" "128494922" "subst" "0.00173517" "01804" "FLNC_000129" "g.128494922G>A" "" "" "" "FLNC(NM_001127487.1):c.6992G>A (p.(Arg2331His)), FLNC(NM_001458.4):c.7091G>A (p.R2364H), FLNC(NM_001458.5):c.7091G>A (p.R2364H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128854868G>A" "" "VUS" "" "0000337100" "0" "30" "7" "128470635" "128470635" "subst" "0" "02327" "FLNC_000145" "g.128470635C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128830581C>T" "" "likely benign" "" "0000337101" "0" "10" "7" "128477620" "128477620" "subst" "0.0785663" "02327" "FLNC_000019" "g.128477620G>A" "" "" "" "FLNC(NM_001458.5):c.850+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128837566G>A" "" "benign" "" "0000337102" "0" "50" "7" "128478652" "128478652" "subst" "2.87708E-5" "02327" "FLNC_000147" "g.128478652G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128838598G>A" "" "VUS" "" "0000337103" "0" "10" "7" "128480229" "128480229" "subst" "0.00418606" "02327" "FLNC_000032" "g.128480229C>A" "" "" "" "FLNC(NM_001127487.1):c.1549+15C>A (p.(=)), FLNC(NM_001458.4):c.1549+15C>A, FLNC(NM_001458.5):c.1549+15C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128840175C>A" "" "benign" "" "0000337104" "0" "10" "7" "128482268" "128482268" "subst" "0.00833122" "02327" "FLNC_000041" "g.128482268T>C" "" "" "" "FLNC(NM_001458.5):c.2122-17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128842214T>C" "" "benign" "" "0000337105" "0" "10" "7" "128482440" "128482440" "subst" "0.125253" "02327" "FLNC_000046" "g.128482440C>G" "" "" "" "FLNC(NM_001458.5):c.2265+12C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128842386C>G" "" "benign" "" "0000337106" "0" "10" "7" "128490553" "128490553" "subst" "0.252663" "02327" "FLNC_000099" "g.128490553T>C" "" "" "" "FLNC(NM_001458.5):c.5398+16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128850499T>C" "" "benign" "" "0000337107" "0" "10" "7" "128492825" "128492825" "subst" "0.0117504" "02327" "FLNC_000108" "g.128492825G>A" "" "" "" "FLNC(NM_001127487.1):c.5905+19G>A (p.(=)), FLNC(NM_001458.5):c.6004+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128852771G>A" "" "benign" "" "0000337108" "0" "10" "7" "128492873" "128492873" "subst" "0.00830902" "02327" "FLNC_000157" "g.128492873T>C" "" "" "" "FLNC(NM_001458.4):c.6005-9T>C, FLNC(NM_001458.5):c.6005-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128852819T>C" "" "benign" "" "0000337109" "0" "10" "7" "128498694" "128498694" "subst" "0" "02327" "FLNC_000162" "g.128498694A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128858640A>C" "" "benign" "" "0000337110" "0" "10" "7" "128498697" "128498698" "ins" "0" "02327" "FLNC_000163" "g.128498697_128498698insT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128858643_128858644insT" "" "benign" "" "0000339190" "0" "10" "7" "128487893" "128487893" "subst" "0.11685" "02327" "FLNC_000084" "g.128487893G>A" "" "" "" "FLNC(NM_001458.5):c.4431G>A (p.L1477=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128847839G>A" "" "benign" "" "0000339365" "0" "10" "7" "128470838" "128470838" "subst" "0.0933388" "02327" "FLNC_000012" "g.128470838C>T" "" "" "" "FLNC(NM_001458.5):c.147C>T (p.H49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128830784C>T" "" "benign" "" "0000339366" "0" "10" "7" "128477472" "128477472" "subst" "0.105112" "02327" "FLNC_000017" "g.128477472T>C" "" "" "" "FLNC(NM_001458.5):c.720T>C (p.I240=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128837418T>C" "" "benign" "" "0000339367" "0" "10" "7" "128477547" "128477547" "subst" "0.104798" "02327" "FLNC_000018" "g.128477547T>C" "" "" "" "FLNC(NM_001458.5):c.795T>C (p.G265=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128837493T>C" "" "benign" "" "0000339368" "0" "10" "7" "128478103" "128478103" "subst" "0.0951245" "02327" "FLNC_000022" "g.128478103C>T" "" "" "" "FLNC(NM_001458.5):c.1032C>T (p.V344=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128838049C>T" "" "benign" "" "0000339369" "0" "10" "7" "128480666" "128480666" "subst" "0.0314081" "02327" "FLNC_000035" "g.128480666C>T" "" "" "" "FLNC(NM_001127487.1):c.1614C>T (p.(Tyr538=)), FLNC(NM_001458.5):c.1614C>T (p.Y538=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128840612C>T" "" "benign" "" "0000339370" "0" "30" "7" "128483553" "128483553" "subst" "2.84835E-5" "02327" "FLNC_000151" "g.128483553G>A" "" "" "" "FLNC(NM_001458.5):c.2733G>A (p.K911=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128843499G>A" "" "likely benign" "" "0000339371" "0" "10" "7" "128484816" "128484816" "subst" "0.223971" "02327" "FLNC_000153" "g.128484816A>G" "" "" "" "FLNC(NM_001458.5):c.3297A>G (p.V1099=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128844762A>G" "" "benign" "" "0000339372" "0" "10" "7" "128486091" "128486091" "subst" "0.0326152" "02327" "FLNC_000071" "g.128486091C>T" "" "" "" "FLNC(NM_001127487.1):c.3838C>T (p.(Leu1280=)), FLNC(NM_001458.5):c.3838C>T (p.L1280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128846037C>T" "" "benign" "" "0000339373" "0" "10" "7" "128486363" "128486363" "subst" "0.218347" "02327" "FLNC_000075" "g.128486363C>T" "" "" "" "FLNC(NM_001458.5):c.3973C>T (p.L1325=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128846309C>T" "" "benign" "" "0000339374" "0" "10" "7" "128486446" "128486446" "subst" "0.0881578" "02327" "FLNC_000077" "g.128486446C>T" "" "" "" "FLNC(NM_001458.5):c.4056C>T (p.R1352=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128846392C>T" "" "benign" "" "0000339375" "0" "10" "7" "128491603" "128491603" "subst" "0.123524" "02327" "FLNC_000104" "g.128491603T>C" "" "" "" "FLNC(NM_001458.5):c.5763T>C (p.T1921=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128851549T>C" "" "benign" "" "0000339376" "0" "10" "7" "128495338" "128495338" "subst" "0.116836" "02327" "FLNC_000131" "g.128495338C>T" "" "" "" "FLNC(NM_001458.5):c.7221C>T (p.D2407=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128855284C>T" "" "benign" "" "0000340650" "0" "30" "7" "128478661" "128478661" "subst" "7.79462E-5" "02327" "FLNC_000148" "g.128478661C>T" "" "" "" "FLNC(NM_001458.5):c.1215C>T (p.A405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128838607C>T" "" "likely benign" "" "0000340768" "0" "10" "7" "128481312" "128481312" "subst" "0.00426031" "02327" "FLNC_000038" "g.128481312G>A" "" "" "" "FLNC(NM_001127487.1):c.1902G>A (p.(Glu634=)), FLNC(NM_001458.4):c.1902G>A (p.E634=), FLNC(NM_001458.5):c.1902G>A (p.E634=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128841258G>A" "" "benign" "" "0000341131" "0" "90" "7" "128485076" "128485076" "subst" "0" "02327" "FLNC_000006" "g.128485076C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128845022C>T" "" "pathogenic" "" "0000341243" "0" "70" "7" "128475604" "128475604" "subst" "0" "02327" "FLNC_000146" "g.128475604G>A" "" "" "" "FLNC(NM_001458.5):c.577G>A (p.A193T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128835550G>A" "" "likely pathogenic" "" "0000343189" "0" "50" "7" "128481295" "128481295" "subst" "2.43708E-5" "02327" "FLNC_000149" "g.128481295C>T" "" "" "" "FLNC(NM_001458.4):c.1885C>T (p.R629W), FLNC(NM_001458.5):c.1885C>T (p.R629W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128841241C>T" "" "VUS" "" "0000343586" "0" "30" "7" "128486134" "128486134" "subst" "4.06984E-6" "02327" "FLNC_000155" "g.128486134A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128846080A>G" "" "likely benign" "" "0000344162" "0" "50" "7" "128481346" "128481346" "subst" "1.62473E-5" "02327" "FLNC_000150" "g.128481346G>A" "" "" "" "FLNC(NM_001458.4):c.1936G>A (p.D646N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128841292G>A" "" "VUS" "" "0000344664" "0" "50" "7" "128494040" "128494040" "subst" "0" "02327" "FLNC_000159" "g.128494040A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128853986A>G" "" "VUS" "" "0000346655" "0" "90" "7" "128497334" "128497334" "subst" "0" "02327" "FLNC_000160" "g.128497334T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128857280T>A" "" "pathogenic" "" "0000347406" "0" "50" "7" "128486399" "128486399" "subst" "0" "02327" "FLNC_000156" "g.128486399A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128846345A>C" "" "VUS" "" "0000348134" "0" "30" "7" "128484823" "128484823" "subst" "9.75063E-5" "02327" "FLNC_000154" "g.128484823C>T" "" "" "" "FLNC(NM_001458.5):c.3304C>T (p.P1102S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128844769C>T" "" "likely benign" "" "0000350233" "0" "50" "7" "128484204" "128484204" "subst" "0" "02327" "FLNC_000152" "g.128484204G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128844150G>A" "" "VUS" "" "0000350380" "0" "50" "7" "128492926" "128492926" "subst" "0" "02327" "FLNC_000158" "g.128492926G>A" "" "" "" "FLNC(NM_001458.4):c.6049G>A (p.V2017M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128852872G>A" "" "VUS" "" "0000350442" "0" "30" "7" "128498569" "128498569" "subst" "0" "02327" "FLNC_000161" "g.128498569G>T" "" "" "" "FLNC(NM_001458.5):c.8170G>T (p.V2724F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128858515G>T" "" "likely benign" "" "0000398566" "1" "50" "7" "128470852" "128470852" "subst" "1.22489E-5" "00006" "FLNC_000166" "g.128470852G>A" "" "{PMID:Fichna 2018:29970176}" "" "" "additional variants in DCTN1, NEB x2, TTN x2" "Germline" "" "" "0" "" "" "g.128830798G>A" "" "VUS" "" "0000405580" "0" "90" "7" "128498529" "128498529" "subst" "0" "00399" "FLNC_000001" "g.128498529G>A" "" "{PMID:Lowe 2007:17412757}, {OMIM102565:0001}" "" "" "immunoglobulin 24 repeat expression cloning - less stable, more susceptible to proteolysis does not dimerize properly, forms aggregates in vitro, actin binding not affected" "In vitro (cloned)" "" "" "0" "" "" "g.128858475G>A" "" "NA" "" "0000405581" "0" "90" "7" "128498529" "128498529" "subst" "0" "00399" "FLNC_000001" "g.128498529G>A" "" "{PMID:Lowe 2007:17412757}, {OMIM102565:0001}" "" "" "immunoglobulin 24 repeat PtK2 cell expression cloning - protein aggregates, no association wt-filamin" "In vitro (cloned)" "" "" "0" "" "" "g.128858475G>A" "" "NA" "" "0000405582" "0" "90" "7" "128498529" "128498529" "subst" "0" "00494" "FLNC_000001" "g.128498529G>A" "" "{PMID:Vorgerd 2005:15929027}, {OMIM102565:0001}" "" "" "immunoglobulin 24 repeat expression cloning - circular dichroism spectra suggest improper folding, chemical cross-linking no dimerization but aggregation" "In vitro (cloned)" "" "" "0" "" "" "g.128858475G>A" "" "NA" "" "0000437550" "0" "90" "7" "128483910" "128483910" "del" "0" "01807" "FLNC_000167" "g.128483910del" "" "" "" "2872delG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.128843856del" "" "pathogenic" "" "0000437557" "0" "90" "7" "128498528" "128498528" "subst" "0" "01807" "FLNC_000168" "g.128498528G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.128858474G>A" "" "pathogenic" "" "0000439066" "0" "50" "7" "128478404" "128478404" "subst" "0" "01164" "FLNC_000169" "g.128478404G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.128838350G>C" "" "VUS" "ACMG" "0000439737" "0" "50" "7" "128488989" "128488989" "subst" "2.06675E-5" "01164" "FLNC_000170" "g.128488989G>A" "" "" "" "" "" "Germline" "" "rs751592993" "0" "" "" "g.128848935G>A" "" "VUS" "ACMG" "0000440079" "0" "50" "7" "128488739" "128488739" "subst" "3.26107E-5" "01164" "FLNC_000088" "g.128488739G>A" "" "" "" "" "ACMG grading: PM2,PP3" "Germline" "" "rs768737324" "0" "" "" "g.128848685G>A" "" "VUS" "ACMG" "0000440092" "0" "50" "7" "128475476" "128475476" "subst" "3.25087E-5" "01164" "FLNC_000171" "g.128475476A>G" "" "" "" "" "" "Germline" "" "rs760711912" "0" "" "" "g.128835422A>G" "" "VUS" "ACMG" "0000458958" "10" "90" "7" "128482753" "128482753" "subst" "0" "02588" "FLNC_000172" "g.128482753G>A" "" "{PMID:Nozari 2018:29551499}" "" "" "substitution in donor splice site at the end of 15th exon leads to exon 15 skipping." "Germline" "yes" "" "0" "" "" "g.128842699G>A" "" "pathogenic" "" "0000530636" "0" "10" "7" "128470666" "128470683" "dup" "0" "02330" "FLNC_000173" "g.128470666_128470683dup" "" "" "" "FLNC(NM_001458.5):c.-31_-14dupAGCCCCGGCCGCACCCCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128830612_128830629dup" "" "benign" "" "0000530637" "0" "10" "7" "128470680" "128470680" "subst" "0.00129492" "02330" "FLNC_000174" "g.128470680G>T" "" "" "" "FLNC(NM_001458.5):c.-12G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128830626G>T" "" "benign" "" "0000530638" "0" "50" "7" "128470752" "128470752" "subst" "1.22494E-5" "02330" "FLNC_000175" "g.128470752A>G" "" "" "" "FLNC(NM_001458.5):c.61A>G (p.M21V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128830698A>G" "" "VUS" "" "0000530639" "0" "30" "7" "128470844" "128470844" "subst" "0" "01943" "FLNC_000176" "g.128470844G>A" "" "" "" "FLNC(NM_001458.4):c.153G>A (p.K51=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128830790G>A" "" "likely benign" "" "0000530640" "0" "10" "7" "128471053" "128471053" "subst" "0.00134992" "02330" "FLNC_000177" "g.128471053G>A" "" "" "" "FLNC(NM_001458.4):c.352+10G>A, FLNC(NM_001458.5):c.352+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128830999G>A" "" "benign" "" "0000530641" "0" "10" "7" "128475393" "128475393" "subst" "4.0828E-5" "02330" "FLNC_000178" "g.128475393C>T" "" "" "" "FLNC(NM_001458.5):c.366C>T (p.I122=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128835339C>T" "" "benign" "" "0000530642" "0" "10" "7" "128475396" "128475396" "subst" "0" "02330" "FLNC_000179" "g.128475396G>C" "" "" "" "FLNC(NM_001458.5):c.369G>C (p.V123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128835342G>C" "" "benign" "" "0000530643" "0" "90" "7" "128475431" "128475431" "subst" "0" "02330" "FLNC_000180" "g.128475431G>A" "" "" "" "FLNC(NM_001458.5):c.404G>A (p.W135*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128835377G>A" "" "pathogenic" "" "0000530644" "0" "50" "7" "128475447" "128475447" "subst" "0" "02327" "FLNC_000181" "g.128475447C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128835393C>A" "" "VUS" "" "0000530645" "0" "50" "7" "128475466" "128475466" "subst" "8.12684E-6" "01943" "FLNC_000182" "g.128475466A>G" "" "" "" "FLNC(NM_001458.4):c.439A>G (p.M147V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128835412A>G" "" "VUS" "" "0000530646" "0" "50" "7" "128475476" "128475476" "subst" "3.25087E-5" "02330" "FLNC_000171" "g.128475476A>G" "" "" "" "FLNC(NM_001458.4):c.449A>G (p.(Asp150Gly), p.D150G), FLNC(NM_001458.5):c.449A>G (p.D150G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128835422A>G" "" "VUS" "" "0000530647" "0" "30" "7" "128475476" "128475476" "subst" "3.25087E-5" "02326" "FLNC_000171" "g.128475476A>G" "" "" "" "FLNC(NM_001458.4):c.449A>G (p.(Asp150Gly), p.D150G), FLNC(NM_001458.5):c.449A>G (p.D150G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128835422A>G" "" "likely benign" "" "0000530648" "0" "10" "7" "128475585" "128475585" "subst" "8.20082E-6" "02330" "FLNC_000183" "g.128475585G>A" "" "" "" "FLNC(NM_001458.4):c.558G>A (p.Q186=), FLNC(NM_001458.5):c.558G>A (p.Q186=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128835531G>A" "" "benign" "" "0000530649" "0" "10" "7" "128475588" "128475588" "subst" "0.00239093" "02330" "FLNC_000013" "g.128475588C>T" "" "" "" "FLNC(NM_001458.4):c.561C>T (p.D187=), FLNC(NM_001458.5):c.561C>T (p.D187=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128835534C>T" "" "benign" "" "0000530650" "0" "10" "7" "128475588" "128475588" "subst" "0.00239093" "01943" "FLNC_000013" "g.128475588C>T" "" "" "" "FLNC(NM_001458.4):c.561C>T (p.D187=), FLNC(NM_001458.5):c.561C>T (p.D187=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128835534C>T" "" "benign" "" "0000530652" "0" "30" "7" "128475627" "128475627" "subst" "0.000213893" "02326" "FLNC_000184" "g.128475627C>T" "" "" "" "FLNC(NM_001458.4):c.600C>T (p.P200=), FLNC(NM_001458.5):c.600C>T (p.P200=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128835573C>T" "" "likely benign" "" "0000530653" "0" "10" "7" "128477440" "128477440" "subst" "0" "02330" "FLNC_000185" "g.128477440T>C" "" "" "" "FLNC(NM_001458.5):c.700-12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128837386T>C" "" "benign" "" "0000530654" "0" "30" "7" "128477447" "128477447" "subst" "2.03105E-5" "02326" "FLNC_000186" "g.128477447C>T" "" "" "" "FLNC(NM_001458.4):c.700-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128837393C>T" "" "likely benign" "" "0000530656" "0" "50" "7" "128477495" "128477495" "subst" "0" "02326" "FLNC_000188" "g.128477495A>T" "" "" "" "FLNC(NM_001458.4):c.743A>T (p.H248L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128837441A>T" "" "VUS" "" "0000530657" "0" "50" "7" "128477696" "128477696" "subst" "4.09319E-6" "02326" "FLNC_000189" "g.128477696G>A" "" "" "" "FLNC(NM_001458.4):c.856G>A (p.E286K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128837642G>A" "" "VUS" "" "0000530658" "0" "90" "7" "128478037" "128478037" "subst" "2.43885E-5" "02330" "FLNC_000190" "g.128478037A>G" "" "" "" "FLNC(NM_001458.4):c.970-4A>G, FLNC(NM_001458.5):c.970-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128837983A>G" "" "pathogenic" "" "0000530659" "0" "50" "7" "128478037" "128478037" "subst" "2.43885E-5" "01943" "FLNC_000190" "g.128478037A>G" "" "" "" "FLNC(NM_001458.4):c.970-4A>G, FLNC(NM_001458.5):c.970-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128837983A>G" "" "VUS" "" "0000530660" "0" "50" "7" "128478354" "128478354" "subst" "0.000162444" "02330" "FLNC_000023" "g.128478354C>T" "" "" "" "FLNC(NM_001458.4):c.1081C>T (p.R361C), FLNC(NM_001458.5):c.1081C>T (p.R361C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128838300C>T" "" "VUS" "" "0000530661" "0" "30" "7" "128478354" "128478354" "subst" "0.000162444" "02325" "FLNC_000023" "g.128478354C>T" "" "" "" "FLNC(NM_001458.4):c.1081C>T (p.R361C), FLNC(NM_001458.5):c.1081C>T (p.R361C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128838300C>T" "" "likely benign" "" "0000530662" "0" "50" "7" "128478405" "128478405" "subst" "0" "01943" "FLNC_000191" "g.128478405G>A" "" "" "" "FLNC(NM_001458.4):c.1132G>A (p.V378M, p.(Val378Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128838351G>A" "" "VUS" "" "0000530663" "0" "50" "7" "128478415" "128478415" "subst" "8.12222E-5" "01943" "FLNC_000192" "g.128478415G>A" "" "" "" "FLNC(NM_001458.4):c.1142G>A (p.R381H), FLNC(NM_001458.5):c.1142G>A (p.R381H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128838361G>A" "" "VUS" "" "0000530664" "0" "50" "7" "128478469" "128478469" "subst" "0" "02330" "FLNC_000193" "g.128478469A>T" "" "" "" "FLNC(NM_001458.5):c.1196A>T (p.D399V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128838415A>T" "" "VUS" "" "0000530665" "0" "30" "7" "128478493" "128478493" "subst" "4.88739E-5" "02326" "FLNC_000194" "g.128478493G>T" "" "" "" "FLNC(NM_001458.4):c.1210+10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128838439G>T" "" "likely benign" "" "0000530666" "0" "50" "7" "128478704" "128478704" "subst" "3.26851E-5" "01943" "FLNC_000195" "g.128478704C>T" "" "" "" "FLNC(NM_001458.4):c.1258C>T (p.R420W), FLNC(NM_001458.5):c.1258C>T (p.R420W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128838650C>T" "" "VUS" "" "0000530668" "0" "50" "7" "128478828" "128478828" "subst" "4.09786E-6" "01943" "FLNC_000197" "g.128478828G>A" "" "" "" "FLNC(NM_001458.4):c.1382G>A (p.R461H), FLNC(NM_001458.5):c.1382G>A (p.R461H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128838774G>A" "" "VUS" "" "0000530669" "0" "30" "7" "128480071" "128480071" "subst" "4.08177E-6" "01943" "FLNC_000198" "g.128480071C>G" "" "" "" "FLNC(NM_001458.4):c.1412-6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840017C>G" "" "likely benign" "" "0000530670" "0" "10" "7" "128480090" "128480090" "subst" "0.00068351" "02330" "FLNC_000199" "g.128480090C>T" "" "" "" "FLNC(NM_001458.4):c.1425C>T (p.N475=), FLNC(NM_001458.5):c.1425C>T (p.N475=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840036C>T" "" "benign" "" "0000530671" "0" "30" "7" "128480090" "128480090" "subst" "0.00068351" "01943" "FLNC_000199" "g.128480090C>T" "" "" "" "FLNC(NM_001458.4):c.1425C>T (p.N475=), FLNC(NM_001458.5):c.1425C>T (p.N475=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840036C>T" "" "likely benign" "" "0000530672" "0" "30" "7" "128480090" "128480090" "subst" "0.00068351" "02326" "FLNC_000199" "g.128480090C>T" "" "" "" "FLNC(NM_001458.4):c.1425C>T (p.N475=), FLNC(NM_001458.5):c.1425C>T (p.N475=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840036C>T" "" "likely benign" "" "0000530673" "0" "30" "7" "128480099" "128480099" "subst" "0.000130097" "01943" "FLNC_000028" "g.128480099C>T" "" "" "" "FLNC(NM_001127487.1):c.1434C>T (p.(Arg478=)), FLNC(NM_001458.4):c.1434C>T (p.R478=), FLNC(NM_001458.5):c.1434C>T (p.R478=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840045C>T" "" "likely benign" "" "0000530674" "0" "30" "7" "128480099" "128480099" "subst" "0.000130097" "01804" "FLNC_000028" "g.128480099C>T" "" "" "" "FLNC(NM_001127487.1):c.1434C>T (p.(Arg478=)), FLNC(NM_001458.4):c.1434C>T (p.R478=), FLNC(NM_001458.5):c.1434C>T (p.R478=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840045C>T" "" "likely benign" "" "0000530675" "0" "90" "7" "128480131" "128480137" "del" "0" "02330" "FLNC_000200" "g.128480131_128480137del" "" "" "" "FLNC(NM_001458.5):c.1466_1472delTTCGCGT (p.V489Gfs*33)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840077_128840083del" "" "pathogenic" "" "0000530676" "0" "10" "7" "128480138" "128480138" "subst" "0" "02330" "FLNC_000201" "g.128480138G>A" "" "" "" "FLNC(NM_001458.5):c.1473G>A (p.V491=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840084G>A" "" "benign" "" "0000530677" "0" "50" "7" "128480139" "128480139" "subst" "0.00028029" "02330" "FLNC_000202" "g.128480139A>G" "" "" "" "FLNC(NM_001458.4):c.1474A>G (p.K492E), FLNC(NM_001458.5):c.1474A>G (p.K492E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840085A>G" "" "VUS" "" "0000530678" "0" "50" "7" "128480139" "128480139" "subst" "0.00028029" "01943" "FLNC_000202" "g.128480139A>G" "" "" "" "FLNC(NM_001458.4):c.1474A>G (p.K492E), FLNC(NM_001458.5):c.1474A>G (p.K492E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840085A>G" "" "VUS" "" "0000530680" "0" "50" "7" "128480178" "128480178" "subst" "1.6252E-5" "02330" "FLNC_000204" "g.128480178G>A" "" "" "" "FLNC(NM_001458.5):c.1513G>A (p.G505S, p.(Gly505Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840124G>A" "" "VUS" "" "0000530681" "0" "30" "7" "128480184" "128480184" "subst" "0.000784304" "02330" "FLNC_000205" "g.128480184G>A" "" "" "" "FLNC(NM_001458.4):c.1519G>A (p.G507R), FLNC(NM_001458.5):c.1519G>A (p.G507R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840130G>A" "" "likely benign" "" "0000530682" "0" "30" "7" "128480184" "128480184" "subst" "0.000784304" "01943" "FLNC_000205" "g.128480184G>A" "" "" "" "FLNC(NM_001458.4):c.1519G>A (p.G507R), FLNC(NM_001458.5):c.1519G>A (p.G507R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840130G>A" "" "likely benign" "" "0000530683" "0" "30" "7" "128480184" "128480184" "subst" "0.000784304" "02326" "FLNC_000205" "g.128480184G>A" "" "" "" "FLNC(NM_001458.4):c.1519G>A (p.G507R), FLNC(NM_001458.5):c.1519G>A (p.G507R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840130G>A" "" "likely benign" "" "0000530684" "0" "10" "7" "128480612" "128480612" "subst" "0" "02330" "FLNC_000206" "g.128480612G>A" "" "" "" "FLNC(NM_001458.5):c.1560G>A (p.E520=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840558G>A" "" "benign" "" "0000530685" "0" "10" "7" "128480629" "128480629" "subst" "0.00231893" "02330" "FLNC_000033" "g.128480629G>A" "" "" "" "FLNC(NM_001127487.1):c.1577G>A (p.(Arg526Gln)), FLNC(NM_001458.4):c.1577G>A (p.R526Q), FLNC(NM_001458.5):c.1577G>A (p.R526Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840575G>A" "" "benign" "" "0000530686" "0" "30" "7" "128480629" "128480629" "subst" "0.00231893" "01943" "FLNC_000033" "g.128480629G>A" "" "" "" "FLNC(NM_001127487.1):c.1577G>A (p.(Arg526Gln)), FLNC(NM_001458.4):c.1577G>A (p.R526Q), FLNC(NM_001458.5):c.1577G>A (p.R526Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840575G>A" "" "likely benign" "" "0000530687" "0" "10" "7" "128480629" "128480629" "subst" "0.00231893" "02326" "FLNC_000033" "g.128480629G>A" "" "" "" "FLNC(NM_001127487.1):c.1577G>A (p.(Arg526Gln)), FLNC(NM_001458.4):c.1577G>A (p.R526Q), FLNC(NM_001458.5):c.1577G>A (p.R526Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840575G>A" "" "benign" "" "0000530688" "0" "50" "7" "128480652" "128480652" "subst" "0.000791878" "02330" "FLNC_000207" "g.128480652G>A" "" "" "" "FLNC(NM_001127487.1):c.1600G>A (p.(Glu534Lys)), FLNC(NM_001458.4):c.1600G>A (p.E534K), FLNC(NM_001458.5):c.1600G>A (p.E534K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840598G>A" "" "VUS" "" "0000530689" "0" "30" "7" "128480652" "128480652" "subst" "0.000791878" "01943" "FLNC_000207" "g.128480652G>A" "" "" "" "FLNC(NM_001127487.1):c.1600G>A (p.(Glu534Lys)), FLNC(NM_001458.4):c.1600G>A (p.E534K), FLNC(NM_001458.5):c.1600G>A (p.E534K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840598G>A" "" "likely benign" "" "0000530690" "0" "30" "7" "128480652" "128480652" "subst" "0.000791878" "02326" "FLNC_000207" "g.128480652G>A" "" "" "" "FLNC(NM_001127487.1):c.1600G>A (p.(Glu534Lys)), FLNC(NM_001458.4):c.1600G>A (p.E534K), FLNC(NM_001458.5):c.1600G>A (p.E534K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840598G>A" "" "likely benign" "" "0000530691" "0" "30" "7" "128480660" "128480660" "subst" "0.000125889" "02326" "FLNC_000208" "g.128480660G>A" "" "" "" "FLNC(NM_001458.4):c.1608G>A (p.E536=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840606G>A" "" "likely benign" "" "0000530692" "0" "50" "7" "128480697" "128480697" "subst" "4.06108E-5" "02330" "FLNC_000209" "g.128480697A>G" "" "" "" "FLNC(NM_001127487.1):c.1645A>G (p.(Ile549Val)), FLNC(NM_001458.4):c.1645A>G (p.I549V), FLNC(NM_001458.5):c.1645A>G (p.I549V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840643A>G" "" "VUS" "" "0000530693" "0" "50" "7" "128480697" "128480697" "subst" "4.06108E-5" "01943" "FLNC_000209" "g.128480697A>G" "" "" "" "FLNC(NM_001127487.1):c.1645A>G (p.(Ile549Val)), FLNC(NM_001458.4):c.1645A>G (p.I549V), FLNC(NM_001458.5):c.1645A>G (p.I549V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840643A>G" "" "VUS" "" "0000530694" "0" "30" "7" "128480909" "128480909" "subst" "0.000366169" "01943" "FLNC_000210" "g.128480909C>T" "" "" "" "FLNC(NM_001458.4):c.1698C>T (p.S566=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840855C>T" "" "likely benign" "" "0000530695" "0" "30" "7" "128481035" "128481035" "subst" "0.000787128" "02326" "FLNC_000211" "g.128481035G>T" "" "" "" "FLNC(NM_001458.4):c.1813+11G>T, FLNC(NM_001458.5):c.1813+11G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840981G>T" "" "likely benign" "" "0000530697" "0" "50" "7" "128481305" "128481305" "subst" "0" "02329" "FLNC_000212" "g.128481305C>A" "" "" "" "FLNC(NM_001458.5):c.1895C>A (p.P632H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128841251C>A" "" "VUS" "" "0000530698" "0" "10" "7" "128481333" "128481333" "subst" "0.00023151" "02330" "FLNC_000213" "g.128481333C>T" "" "" "" "FLNC(NM_001127487.1):c.1923C>T (p.(His641=)), FLNC(NM_001458.4):c.1923C>T (p.H641=), FLNC(NM_001458.5):c.1923C>T (p.H641=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128841279C>T" "" "benign" "" "0000530699" "0" "30" "7" "128481333" "128481333" "subst" "0.00023151" "01943" "FLNC_000213" "g.128481333C>T" "" "" "" "FLNC(NM_001127487.1):c.1923C>T (p.(His641=)), FLNC(NM_001458.4):c.1923C>T (p.H641=), FLNC(NM_001458.5):c.1923C>T (p.H641=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128841279C>T" "" "likely benign" "" "0000530700" "0" "50" "7" "128481338" "128481338" "subst" "0" "01943" "FLNC_000214" "g.128481338T>A" "" "" "" "FLNC(NM_001458.4):c.1928T>A (p.I643N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128841284T>A" "" "VUS" "" "0000530701" "0" "50" "7" "128481346" "128481346" "subst" "1.62473E-5" "02326" "FLNC_000150" "g.128481346G>A" "" "" "" "FLNC(NM_001458.4):c.1936G>A (p.D646N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128841292G>A" "" "VUS" "" "0000530702" "0" "90" "7" "128481358" "128481358" "subst" "0" "02330" "FLNC_000215" "g.128481358C>T" "" "" "" "FLNC(NM_001458.4):c.1948C>T (p.R650*), FLNC(NM_001458.5):c.1948C>T (p.R650*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128841304C>T" "" "pathogenic" "" "0000530703" "0" "70" "7" "128481358" "128481358" "subst" "0" "01943" "FLNC_000215" "g.128481358C>T" "" "" "" "FLNC(NM_001458.4):c.1948C>T (p.R650*), FLNC(NM_001458.5):c.1948C>T (p.R650*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128841304C>T" "" "likely pathogenic" "" "0000530704" "0" "90" "7" "128481358" "128481358" "subst" "0" "02326" "FLNC_000215" "g.128481358C>T" "" "" "" "FLNC(NM_001458.4):c.1948C>T (p.R650*), FLNC(NM_001458.5):c.1948C>T (p.R650*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128841304C>T" "" "pathogenic" "" "0000530705" "0" "50" "7" "128481565" "128481565" "subst" "8.12163E-6" "02330" "FLNC_000216" "g.128481565G>A" "" "" "" "FLNC(NM_001458.5):c.2065G>A (p.E689K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128841511G>A" "" "VUS" "" "0000530706" "0" "50" "7" "128481568" "128481568" "subst" "0.000162433" "02330" "FLNC_000040" "g.128481568T>C" "" "" "" "FLNC(NM_001127487.1):c.2068T>C (p.(Phe690Leu)), FLNC(NM_001458.4):c.2068T>C (p.F690L), FLNC(NM_001458.5):c.2068T>C (p.F690L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128841514T>C" "" "VUS" "" "0000530707" "0" "50" "7" "128481575" "128481575" "subst" "3.24863E-5" "02330" "FLNC_000217" "g.128481575T>C" "" "" "" "FLNC(NM_001458.5):c.2075T>C (p.I692T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128841521T>C" "" "VUS" "" "0000530708" "0" "30" "7" "128481578" "128481578" "subst" "0.00345573" "01943" "FLNC_000218" "g.128481578A>C" "" "" "" "FLNC(NM_001458.4):c.2078A>C (p.D693A), FLNC(NM_001458.5):c.2078A>C (p.D693A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128841524A>C" "" "likely benign" "" "0000530709" "0" "30" "7" "128481578" "128481578" "subst" "0.00345573" "02326" "FLNC_000218" "g.128481578A>C" "" "" "" "FLNC(NM_001458.4):c.2078A>C (p.D693A), FLNC(NM_001458.5):c.2078A>C (p.D693A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128841524A>C" "" "likely benign" "" "0000530710" "0" "50" "7" "128481620" "128481620" "subst" "4.06105E-6" "02330" "FLNC_000219" "g.128481620A>G" "" "" "" "FLNC(NM_001458.5):c.2120A>G (p.Q707R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128841566A>G" "" "VUS" "" "0000530711" "0" "10" "7" "128482288" "128482288" "subst" "0.00108005" "02330" "FLNC_000042" "g.128482288G>A" "" "" "" "FLNC(NM_001127487.1):c.2125G>A (p.(Ala709Thr)), FLNC(NM_001458.4):c.2125G>A (p.A709T), FLNC(NM_001458.5):c.2125G>A (p.A709T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128842234G>A" "" "benign" "" "0000530712" "0" "50" "7" "128482291" "128482291" "subst" "0.000321826" "02330" "FLNC_000043" "g.128482291G>A" "" "" "" "FLNC(NM_001458.4):c.2128G>A (p.D710N), FLNC(NM_001458.5):c.2128G>A (p.D710N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128842237G>A" "" "VUS" "" "0000530713" "0" "50" "7" "128482327" "128482327" "subst" "2.44008E-5" "02330" "FLNC_000220" "g.128482327G>A" "" "" "" "FLNC(NM_001458.5):c.2164G>A (p.G722S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128842273G>A" "" "VUS" "" "0000530714" "0" "10" "7" "128482343" "128482343" "subst" "0.000284608" "02330" "FLNC_000044" "g.128482343G>A" "" "" "" "FLNC(NM_001458.4):c.2180G>A (p.R727H), FLNC(NM_001458.5):c.2180G>A (p.R727H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128842289G>A" "" "benign" "" "0000530715" "0" "90" "7" "128482433" "128482433" "subst" "8.17167E-6" "02330" "FLNC_000221" "g.128482433G>A" "" "" "" "FLNC(NM_001458.4):c.2265+5G>A (p.?), FLNC(NM_001458.5):c.2265+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128842379G>A" "" "pathogenic" "" "0000530716" "0" "10" "7" "128482447" "128482447" "subst" "0" "02330" "FLNC_000222" "g.128482447C>T" "" "" "" "FLNC(NM_001458.5):c.2265+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128842393C>T" "" "benign" "" "0000530717" "0" "30" "7" "128482626" "128482626" "subst" "0.000116219" "02330" "FLNC_000223" "g.128482626C>T" "" "" "" "FLNC(NM_001458.5):c.2266-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128842572C>T" "" "likely benign" "" "0000530718" "0" "10" "7" "128482655" "128482655" "subst" "9.54094E-5" "02330" "FLNC_000224" "g.128482655C>T" "" "" "" "FLNC(NM_001458.4):c.2292C>T (p.P764=), FLNC(NM_001458.5):c.2292C>T (p.P764=, p.(Pro764=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128842601C>T" "" "benign" "" "0000530719" "0" "10" "7" "128482834" "128482834" "subst" "0.0101949" "02330" "FLNC_000049" "g.128482834C>T" "" "" "" "FLNC(NM_001127487.1):c.2390-14C>T (p.(=)), FLNC(NM_001458.4):c.2390-14C>T, FLNC(NM_001458.5):c.2390-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128842780C>T" "" "benign" "" "0000530720" "0" "50" "7" "128482883" "128482883" "subst" "1.6267E-5" "02330" "FLNC_000054" "g.128482883G>A" "" "" "" "FLNC(NM_001458.4):c.2425G>A (p.V809M), FLNC(NM_001458.5):c.2425G>A (p.V809M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128842829G>A" "" "VUS" "" "0000530721" "0" "30" "7" "128482948" "128482948" "subst" "4.47085E-5" "02326" "FLNC_000225" "g.128482948C>T" "" "" "" "FLNC(NM_001458.4):c.2490C>T (p.T830=), FLNC(NM_001458.5):c.2490C>T (p.T830=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128842894C>T" "" "likely benign" "" "0000530722" "0" "10" "7" "128482965" "128482965" "subst" "0.000516311" "02330" "FLNC_000226" "g.128482965C>A" "" "" "" "FLNC(NM_001127487.1):c.2507C>A (p.(Pro836Gln)), FLNC(NM_001458.4):c.2507C>A (p.P836Q), FLNC(NM_001458.5):c.2507C>A (p.P836Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128842911C>A" "" "benign" "" "0000530723" "0" "30" "7" "128482965" "128482965" "subst" "0.000516311" "01943" "FLNC_000226" "g.128482965C>A" "" "" "" "FLNC(NM_001127487.1):c.2507C>A (p.(Pro836Gln)), FLNC(NM_001458.4):c.2507C>A (p.P836Q), FLNC(NM_001458.5):c.2507C>A (p.P836Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128842911C>A" "" "likely benign" "" "0000530724" "0" "50" "7" "128483359" "128483359" "subst" "0" "02327" "FLNC_000058" "g.128483359G>T" "" "" "" "FLNC(NM_001458.4):c.2627G>T (p.G876V), FLNC(NM_001458.5):c.2627G>T (p.G876V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128843305G>T" "" "VUS" "" "0000530725" "0" "50" "7" "128483462" "128483462" "subst" "4.07947E-6" "01943" "FLNC_000227" "g.128483462G>T" "" "" "" "FLNC(NM_001458.4):c.2642G>T (p.G881V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128843408G>T" "" "VUS" "" "0000530726" "0" "10" "7" "128483553" "128483553" "subst" "2.84835E-5" "02330" "FLNC_000151" "g.128483553G>A" "" "" "" "FLNC(NM_001458.5):c.2733G>A (p.K911=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128843499G>A" "" "benign" "" "0000530728" "0" "90" "7" "128483876" "128483876" "subst" "0" "02330" "FLNC_000229" "g.128483876T>A" "" "" "" "FLNC(NM_001458.5):c.2838T>A (p.Y946*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128843822T>A" "" "pathogenic" "" "0000530729" "0" "30" "7" "128483879" "128483879" "subst" "0.000461684" "01943" "FLNC_000230" "g.128483879C>T" "" "" "" "FLNC(NM_001458.4):c.2841C>T (p.G947=), FLNC(NM_001458.5):c.2841C>T (p.G947=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128843825C>T" "" "likely benign" "" "0000530730" "0" "30" "7" "128483927" "128483927" "subst" "0.00069863" "01943" "FLNC_000059" "g.128483927G>A" "" "" "" "FLNC(NM_001458.4):c.2889G>A (p.P963=), FLNC(NM_001458.5):c.2889G>A (p.P963=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128843873G>A" "" "likely benign" "" "0000530731" "0" "50" "7" "128484053" "128484053" "subst" "0" "02326" "FLNC_000231" "g.128484053C>G" "" "" "" "FLNC(NM_001458.4):c.2930-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128843999C>G" "" "VUS" "" "0000530732" "0" "30" "7" "128484065" "128484065" "subst" "4.46955E-5" "02326" "FLNC_000232" "g.128484065T>A" "" "" "" "FLNC(NM_001458.4):c.2937T>A (p.A979=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128844011T>A" "" "likely benign" "" "0000530733" "0" "50" "7" "128484111" "128484111" "subst" "8.12916E-6" "01943" "FLNC_000233" "g.128484111G>A" "" "" "" "FLNC(NM_001458.4):c.2983G>A (p.G995S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128844057G>A" "" "VUS" "" "0000530734" "0" "10" "7" "128484134" "128484134" "subst" "0.000597833" "02330" "FLNC_000234" "g.128484134G>A" "" "" "" "FLNC(NM_001458.4):c.3006G>A (p.R1002=), FLNC(NM_001458.5):c.3006G>A (p.R1002=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128844080G>A" "" "benign" "" "0000530735" "0" "30" "7" "128484134" "128484134" "subst" "0.000597833" "02326" "FLNC_000234" "g.128484134G>A" "" "" "" "FLNC(NM_001458.4):c.3006G>A (p.R1002=), FLNC(NM_001458.5):c.3006G>A (p.R1002=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128844080G>A" "" "likely benign" "" "0000530736" "0" "90" "7" "128484308" "128484308" "del" "0" "02330" "FLNC_000235" "g.128484308del" "" "" "" "FLNC(NM_001458.4):c.3180delT (p.D1061Ifs*17), FLNC(NM_001458.5):c.3180delT (p.D1061Ifs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128844254del" "" "pathogenic" "" "0000530737" "0" "50" "7" "128484823" "128484823" "subst" "9.75063E-5" "02330" "FLNC_000154" "g.128484823C>T" "" "" "" "FLNC(NM_001458.5):c.3304C>T (p.P1102S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128844769C>T" "" "VUS" "" "0000530738" "0" "50" "7" "128484901" "128484901" "subst" "6.0931E-5" "01943" "FLNC_000236" "g.128484901G>A" "" "" "" "FLNC(NM_001458.4):c.3382G>A (p.E1128K), FLNC(NM_001458.5):c.3382G>A (p.E1128K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128844847G>A" "" "VUS" "" "0000530739" "0" "30" "7" "128485025" "128485025" "subst" "0.00115462" "01943" "FLNC_000066" "g.128485025A>G" "" "" "" "FLNC(NM_001458.4):c.3506A>G (p.K1169R), FLNC(NM_001458.5):c.3506A>G (p.K1169R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128844971A>G" "" "likely benign" "" "0000530740" "0" "10" "7" "128485140" "128485140" "subst" "0.00216598" "02330" "FLNC_000237" "g.128485140C>T" "" "" "" "FLNC(NM_001458.4):c.3621C>T (p.N1207=), FLNC(NM_001458.5):c.3621C>T (p.N1207=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128845086C>T" "" "benign" "" "0000530741" "0" "10" "7" "128485140" "128485140" "subst" "0.00216598" "01943" "FLNC_000237" "g.128485140C>T" "" "" "" "FLNC(NM_001458.4):c.3621C>T (p.N1207=), FLNC(NM_001458.5):c.3621C>T (p.N1207=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128845086C>T" "" "benign" "" "0000530742" "0" "10" "7" "128485140" "128485140" "subst" "0.00216598" "02326" "FLNC_000237" "g.128485140C>T" "" "" "" "FLNC(NM_001458.4):c.3621C>T (p.N1207=), FLNC(NM_001458.5):c.3621C>T (p.N1207=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128845086C>T" "" "benign" "" "0000530743" "0" "10" "7" "128485143" "128485143" "subst" "0.0219506" "02330" "FLNC_000238" "g.128485143G>A" "" "" "" "FLNC(NM_001127487.1):c.3624G>A (p.(=)), FLNC(NM_001458.5):c.3624G>A (p.A1208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128845089G>A" "" "benign" "" "0000530744" "0" "50" "7" "128485177" "128485177" "subst" "0" "02330" "FLNC_000239" "g.128485177T>C" "" "" "" "FLNC(NM_001458.5):c.3658T>C (p.F1220L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128845123T>C" "" "VUS" "" "0000530745" "0" "30" "7" "128485240" "128485240" "subst" "0.00592992" "01804" "FLNC_000067" "g.128485240C>T" "" "" "" "FLNC(NM_001127487.1):c.3721C>T (p.(Arg1241Cys)), FLNC(NM_001458.4):c.3721C>T (p.R1241C), FLNC(NM_001458.5):c.3721C>T (p.R1241C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128845186C>T" "" "likely benign" "" "0000530746" "0" "10" "7" "128485276" "128485276" "subst" "0.00131328" "01943" "FLNC_000068" "g.128485276G>A" "" "" "" "FLNC(NM_001458.4):c.3757G>A (p.V1253I), FLNC(NM_001458.5):c.3757G>A (p.V1253I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128845222G>A" "" "benign" "" "0000530747" "0" "10" "7" "128485284" "128485284" "subst" "0.00144092" "01943" "FLNC_000069" "g.128485284C>A" "" "" "" "FLNC(NM_001458.4):c.3765C>A (p.V1255=), FLNC(NM_001458.5):c.3765C>A (p.V1255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128845230C>A" "" "benign" "" "0000530748" "0" "50" "7" "128486053" "128486053" "subst" "2.44435E-5" "01943" "FLNC_000240" "g.128486053G>A" "" "" "" "FLNC(NM_001458.4):c.3800G>A (p.R1267Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128845999G>A" "" "VUS" "" "0000530749" "0" "10" "7" "128486105" "128486105" "subst" "0.00166509" "02330" "FLNC_000241" "g.128486105C>T" "" "" "" "FLNC(NM_001458.4):c.3852C>T (p.G1284=), FLNC(NM_001458.5):c.3852C>T (p.G1284=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128846051C>T" "" "benign" "" "0000530750" "0" "50" "7" "128486106" "128486106" "subst" "2.44238E-5" "02325" "FLNC_000242" "g.128486106G>A" "" "" "" "FLNC(NM_001458.5):c.3853G>A (p.G1285S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128846052G>A" "" "VUS" "" "0000530751" "0" "30" "7" "128486191" "128486191" "subst" "0.000203343" "01943" "FLNC_000072" "g.128486191G>A" "" "" "" "FLNC(NM_001127487.1):c.3938G>A (p.(Arg1313Gln)), FLNC(NM_001458.4):c.3938G>A (p.R1313Q), FLNC(NM_001458.5):c.3938G>A (p.R1313Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128846137G>A" "" "likely benign" "" "0000530752" "0" "10" "7" "128486356" "128486356" "subst" "0.000811953" "02330" "FLNC_000243" "g.128486356C>T" "" "" "" "FLNC(NM_001458.4):c.3966C>T (p.G1322=), FLNC(NM_001458.5):c.3966C>T (p.G1322=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128846302C>T" "" "benign" "" "0000530753" "0" "30" "7" "128486356" "128486356" "subst" "0.000811953" "02326" "FLNC_000243" "g.128486356C>T" "" "" "" "FLNC(NM_001458.4):c.3966C>T (p.G1322=), FLNC(NM_001458.5):c.3966C>T (p.G1322=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128846302C>T" "" "likely benign" "" "0000530754" "0" "50" "7" "128486444" "128486444" "subst" "2.05019E-5" "02326" "FLNC_000244" "g.128486444C>T" "" "" "" "FLNC(NM_001458.4):c.4054C>T (p.R1352C), FLNC(NM_001458.5):c.4054C>T (p.R1352C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128846390C>T" "" "VUS" "" "0000530755" "0" "30" "7" "128486526" "128486526" "subst" "0.000183478" "01943" "FLNC_000245" "g.128486526C>T" "" "" "" "FLNC(NM_001458.4):c.4127+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128846472C>T" "" "likely benign" "" "0000530756" "0" "30" "7" "128486805" "128486805" "subst" "2.8526E-5" "01943" "FLNC_000246" "g.128486805G>A" "" "" "" "FLNC(NM_001458.4):c.4134G>A (p.A1378=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128846751G>A" "" "likely benign" "" "0000530757" "0" "10" "7" "128486832" "128486832" "subst" "0.00389336" "02330" "FLNC_000247" "g.128486832C>T" "" "" "" "FLNC(NM_001127487.1):c.4161C>T (p.(Ile1387=)), FLNC(NM_001458.5):c.4161C>T (p.I1387=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128846778C>T" "" "benign" "" "0000530758" "0" "50" "7" "128486941" "128486941" "subst" "4.0656E-6" "02330" "FLNC_000248" "g.128486941G>A" "" "" "" "FLNC(NM_001458.5):c.4270G>A (p.G1424R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128846887G>A" "" "VUS" "" "0000530759" "0" "10" "7" "128487747" "128487747" "subst" "0.00166318" "02330" "FLNC_000249" "g.128487747A>C" "" "" "" "FLNC(NM_001458.4):c.4289-4A>C, FLNC(NM_001458.5):c.4289-4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128847693A>C" "" "benign" "" "0000530760" "0" "30" "7" "128487763" "128487763" "subst" "9.34982E-5" "02326" "FLNC_000250" "g.128487763G>A" "" "" "" "FLNC(NM_001458.4):c.4301G>A (p.R1434H), FLNC(NM_001458.5):c.4301G>A (p.R1434H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128847709G>A" "" "likely benign" "" "0000530761" "0" "50" "7" "128487875" "128487875" "subst" "3.6625E-5" "02326" "FLNC_000251" "g.128487875A>T" "" "" "" "FLNC(NM_001458.4):c.4413A>T (p.Q1471H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128847821A>T" "" "VUS" "" "0000530762" "0" "50" "7" "128487880" "128487880" "subst" "0" "02330" "FLNC_000083" "g.128487880G>A" "" "" "" "FLNC(NM_001458.4):c.4418G>A (p.G1473D), FLNC(NM_001458.5):c.4418G>A (p.G1473D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128847826G>A" "" "VUS" "" "0000530763" "0" "10" "7" "128487931" "128487931" "subst" "0.000930673" "02330" "FLNC_000252" "g.128487931C>T" "" "" "" "FLNC(NM_001127487.1):c.4456+13C>T (p.(=)), FLNC(NM_001458.5):c.4456+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128847877C>T" "" "benign" "" "0000530764" "0" "10" "7" "128487934" "128487934" "subst" "0.000371132" "02330" "FLNC_000253" "g.128487934G>A" "" "" "" "FLNC(NM_001127487.1):c.4456+16G>A (p.(=)), FLNC(NM_001458.5):c.4456+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128847880G>A" "" "benign" "" "0000530765" "0" "30" "7" "128487934" "128487934" "subst" "0.000371132" "01804" "FLNC_000253" "g.128487934G>A" "" "" "" "FLNC(NM_001127487.1):c.4456+16G>A (p.(=)), FLNC(NM_001458.5):c.4456+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128847880G>A" "" "likely benign" "" "0000530766" "0" "10" "7" "128488030" "128488030" "subst" "0.000132761" "02330" "FLNC_000254" "g.128488030T>C" "" "" "" "FLNC(NM_001458.5):c.4488T>C (p.N1496=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128847976T>C" "" "benign" "" "0000530767" "0" "30" "7" "128488095" "128488095" "subst" "0.000147576" "02330" "FLNC_000255" "g.128488095A>G" "" "" "" "FLNC(NM_001458.4):c.4553A>G (p.K1518R), FLNC(NM_001458.5):c.4553A>G (p.K1518R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128848041A>G" "" "likely benign" "" "0000530768" "0" "30" "7" "128488095" "128488095" "subst" "0.000147576" "01943" "FLNC_000255" "g.128488095A>G" "" "" "" "FLNC(NM_001458.4):c.4553A>G (p.K1518R), FLNC(NM_001458.5):c.4553A>G (p.K1518R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128848041A>G" "" "likely benign" "" "0000530769" "0" "30" "7" "128488119" "128488119" "subst" "0" "02326" "FLNC_000256" "g.128488119G>A" "" "" "" "FLNC(NM_001458.4):c.4577G>A (p.R1526H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128848065G>A" "" "likely benign" "" "0000530770" "0" "50" "7" "128488617" "128488617" "subst" "8.13352E-6" "02330" "FLNC_000257" "g.128488617C>G" "" "" "" "FLNC(NM_001458.5):c.4583C>G (p.P1528R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128848563C>G" "" "VUS" "" "0000530771" "0" "50" "7" "128488745" "128488745" "subst" "2.03769E-5" "02325" "FLNC_000258" "g.128488745G>A" "" "" "" "FLNC(NM_001458.4):c.4711G>A (p.E1571K), FLNC(NM_001458.5):c.4711G>A (p.E1571K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128848691G>A" "" "VUS" "" "0000530772" "0" "50" "7" "128488774" "128488774" "subst" "0" "02327" "FLNC_000259" "g.128488774G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128848720G>T" "" "VUS" "" "0000530773" "0" "10" "7" "128488780" "128488781" "del" "0" "02330" "FLNC_000090" "g.128488780_128488781del" "" "" "" "FLNC(NM_001458.4):c.4737+9_4737+10delCT, FLNC(NM_001458.5):c.4737+9_4737+10delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128848726_128848727del" "" "benign" "" "0000530774" "0" "10" "7" "128488786" "128488786" "subst" "0.00166741" "02330" "FLNC_000260" "g.128488786A>G" "" "" "" "FLNC(NM_001127487.1):c.4737+15A>G (p.(=)), FLNC(NM_001458.4):c.4737+15A>G, FLNC(NM_001458.5):c.4737+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128848732A>G" "" "benign" "" "0000530775" "0" "30" "7" "128488786" "128488786" "subst" "0.00166741" "01804" "FLNC_000260" "g.128488786A>G" "" "" "" "FLNC(NM_001127487.1):c.4737+15A>G (p.(=)), FLNC(NM_001458.4):c.4737+15A>G, FLNC(NM_001458.5):c.4737+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128848732A>G" "" "likely benign" "" "0000530776" "0" "30" "7" "128488786" "128488786" "subst" "0.00166741" "02326" "FLNC_000260" "g.128488786A>G" "" "" "" "FLNC(NM_001127487.1):c.4737+15A>G (p.(=)), FLNC(NM_001458.4):c.4737+15A>G, FLNC(NM_001458.5):c.4737+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128848732A>G" "" "likely benign" "" "0000530777" "0" "50" "7" "128488872" "128488872" "subst" "0.000158548" "01943" "FLNC_000261" "g.128488872C>G" "" "" "" "FLNC(NM_001458.4):c.4763C>G (p.A1588G), FLNC(NM_001458.5):c.4763C>G (p.A1588G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128848818C>G" "" "VUS" "" "0000530778" "0" "50" "7" "128488872" "128488872" "subst" "0.000158548" "02326" "FLNC_000261" "g.128488872C>G" "" "" "" "FLNC(NM_001458.4):c.4763C>G (p.A1588G), FLNC(NM_001458.5):c.4763C>G (p.A1588G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128848818C>G" "" "VUS" "" "0000530779" "0" "50" "7" "128488935" "128488935" "subst" "0" "01943" "FLNC_000262" "g.128488935G>A" "" "" "" "FLNC(NM_001458.4):c.4826G>A (p.R1609Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128848881G>A" "" "VUS" "" "0000530780" "0" "50" "7" "128488961" "128488961" "subst" "4.10533E-6" "02326" "FLNC_000263" "g.128488961G>A" "" "" "" "FLNC(NM_001458.4):c.4852G>A (p.G1618S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128848907G>A" "" "VUS" "" "0000530781" "0" "10" "7" "128489023" "128489023" "subst" "2.9099E-5" "02330" "FLNC_000264" "g.128489023G>A" "" "" "" "FLNC(NM_001458.4):c.4914G>A (p.K1638=), FLNC(NM_001458.5):c.4914G>A (p.K1638=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128848969G>A" "" "benign" "" "0000530782" "0" "50" "7" "128489034" "128489034" "subst" "0" "02326" "FLNC_000265" "g.128489034C>G" "" "" "" "FLNC(NM_001458.4):c.4925C>G (p.T1642R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128848980C>G" "" "VUS" "" "0000530783" "0" "10" "7" "128489254" "128489254" "subst" "0.00130302" "02330" "FLNC_000095" "g.128489254C>T" "" "" "" "FLNC(NM_001127487.1):c.4947C>T (p.(Gly1649=)), FLNC(NM_001458.4):c.4947C>T (p.G1649=), FLNC(NM_001458.5):c.4947C>T (p.G1649=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128849200C>T" "" "benign" "" "0000530784" "0" "10" "7" "128489254" "128489254" "subst" "0.00130302" "01943" "FLNC_000095" "g.128489254C>T" "" "" "" "FLNC(NM_001127487.1):c.4947C>T (p.(Gly1649=)), FLNC(NM_001458.4):c.4947C>T (p.G1649=), FLNC(NM_001458.5):c.4947C>T (p.G1649=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128849200C>T" "" "benign" "" "0000530785" "0" "10" "7" "128489277" "128489277" "subst" "0" "02330" "FLNC_000266" "g.128489277C>T" "" "" "" "FLNC(NM_001458.5):c.4951+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128849223C>T" "" "benign" "" "0000530786" "0" "90" "7" "128489402" "128489402" "subst" "0" "02330" "FLNC_000267" "g.128489402C>T" "" "" "" "FLNC(NM_001458.5):c.4969C>T (p.R1657*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128849348C>T" "" "pathogenic" "" "0000530788" "0" "50" "7" "128489453" "128489453" "subst" "0.000150328" "01943" "FLNC_000268" "g.128489453G>A" "" "" "" "FLNC(NM_001458.4):c.5020G>A (p.G1674S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128849399G>A" "" "VUS" "" "0000530789" "0" "30" "7" "128489475" "128489475" "subst" "0.000544375" "01943" "FLNC_000097" "g.128489475C>G" "" "" "" "FLNC(NM_001458.4):c.5042C>G (p.T1681R), FLNC(NM_001458.5):c.5042C>G (p.T1681R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128849421C>G" "" "likely benign" "" "0000530790" "0" "50" "7" "128489504" "128489504" "subst" "4.4674E-5" "02330" "FLNC_000269" "g.128489504G>A" "" "" "" "FLNC(NM_001458.5):c.5071G>A (p.D1691N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128849450G>A" "" "VUS" "" "0000530791" "0" "30" "7" "128489560" "128489560" "subst" "0.000121857" "02326" "FLNC_000270" "g.128489560C>T" "" "" "" "FLNC(NM_001458.4):c.5127C>T (p.P1709=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128849506C>T" "" "likely benign" "" "0000530792" "0" "50" "7" "128489561" "128489561" "subst" "4.46817E-5" "01943" "FLNC_000271" "g.128489561G>A" "" "" "" "FLNC(NM_001458.4):c.5128G>A (p.E1710K, p.(Glu1710Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128849507G>A" "" "VUS" "" "0000530793" "0" "30" "7" "128490051" "128490051" "subst" "0.000165658" "01804" "FLNC_000272" "g.128490051G>A" "" "" "" "FLNC(NM_001458.4):c.5221G>A (p.(Glu1741Lys)), FLNC(NM_001458.5):c.5221G>A (p.E1741K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128849997G>A" "" "likely benign" "" "0000530794" "0" "50" "7" "128490445" "128490453" "del" "0" "01943" "FLNC_000273" "g.128490445_128490453del" "" "" "" "FLNC(NM_001458.4):c.5306_5314delAGGAGCCAG (p.E1769_P1771del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128850391_128850399del" "" "VUS" "" "0000530795" "0" "30" "7" "128490450" "128490450" "subst" "0.000247875" "02330" "FLNC_000274" "g.128490450C>G" "" "" "" "FLNC(NM_001127487.1):c.5212C>G (p.(Pro1738Ala)), FLNC(NM_001458.4):c.5311C>G (p.P1771A), FLNC(NM_001458.5):c.5311C>G (p.P1771A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128850396C>G" "" "likely benign" "" "0000530796" "0" "30" "7" "128490450" "128490450" "subst" "0.000247875" "02326" "FLNC_000274" "g.128490450C>G" "" "" "" "FLNC(NM_001127487.1):c.5212C>G (p.(Pro1738Ala)), FLNC(NM_001458.4):c.5311C>G (p.P1771A), FLNC(NM_001458.5):c.5311C>G (p.P1771A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128850396C>G" "" "likely benign" "" "0000530797" "0" "50" "7" "128490502" "128490502" "subst" "9.7553E-5" "02330" "FLNC_000275" "g.128490502T>G" "" "" "" "FLNC(NM_001458.5):c.5363T>G (p.V1788G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128850448T>G" "" "VUS" "" "0000530798" "0" "50" "7" "128490514" "128490514" "subst" "0.000105735" "02330" "FLNC_000276" "g.128490514C>T" "" "" "" "FLNC(NM_001127487.1):c.5276C>T (p.(Ala1759Val)), FLNC(NM_001458.5):c.5375C>T (p.A1792V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128850460C>T" "" "VUS" "" "0000530799" "0" "30" "7" "128490514" "128490514" "subst" "0.000105735" "01804" "FLNC_000276" "g.128490514C>T" "" "" "" "FLNC(NM_001127487.1):c.5276C>T (p.(Ala1759Val)), FLNC(NM_001458.5):c.5375C>T (p.A1792V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128850460C>T" "" "likely benign" "" "0000530800" "0" "30" "7" "128490876" "128490876" "subst" "0.000191007" "01943" "FLNC_000277" "g.128490876G>A" "" "" "" "FLNC(NM_001458.4):c.5418G>A (p.S1806=), FLNC(NM_001458.5):c.5418G>A (p.S1806=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128850822G>A" "" "likely benign" "" "0000530801" "0" "10" "7" "128490903" "128490903" "subst" "0.000134055" "02330" "FLNC_000278" "g.128490903C>T" "" "" "" "FLNC(NM_001127487.1):c.5346C>T (p.(Thr1782=)), FLNC(NM_001458.5):c.5445C>T (p.T1815=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128850849C>T" "" "benign" "" "0000530802" "0" "30" "7" "128490903" "128490903" "subst" "0.000134055" "01804" "FLNC_000278" "g.128490903C>T" "" "" "" "FLNC(NM_001127487.1):c.5346C>T (p.(Thr1782=)), FLNC(NM_001458.5):c.5445C>T (p.T1815=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128850849C>T" "" "likely benign" "" "0000530803" "0" "50" "7" "128490926" "128490926" "subst" "4.46791E-5" "01804" "FLNC_000279" "g.128490926C>T" "" "" "" "FLNC(NM_001127487.1):c.5369C>T (p.(Thr1790Met)), FLNC(NM_001458.4):c.5468C>T (p.T1823M), FLNC(NM_001458.5):c.5468C>T (p.T1823M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128850872C>T" "" "VUS" "" "0000530804" "0" "10" "7" "128491324" "128491324" "subst" "0.00525999" "02330" "FLNC_000101" "g.128491324C>T" "" "" "" "FLNC(NM_001127487.1):c.5479C>T (p.(Arg1827Cys)), FLNC(NM_001458.4):c.5578C>T (p.R1860C), FLNC(NM_001458.5):c.5578C>T (p.R1860C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128851270C>T" "" "benign" "" "0000530805" "0" "10" "7" "128491390" "128491390" "subst" "0.00107227" "02330" "FLNC_000280" "g.128491390A>G" "" "" "" "FLNC(NM_001458.4):c.5644A>G (p.I1882V), FLNC(NM_001458.5):c.5644A>G (p.I1882V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128851336A>G" "" "benign" "" "0000530806" "0" "30" "7" "128491390" "128491390" "subst" "0.00107227" "01943" "FLNC_000280" "g.128491390A>G" "" "" "" "FLNC(NM_001458.4):c.5644A>G (p.I1882V), FLNC(NM_001458.5):c.5644A>G (p.I1882V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128851336A>G" "" "likely benign" "" "0000530807" "0" "30" "7" "128491390" "128491390" "subst" "0.00107227" "02326" "FLNC_000280" "g.128491390A>G" "" "" "" "FLNC(NM_001458.4):c.5644A>G (p.I1882V), FLNC(NM_001458.5):c.5644A>G (p.I1882V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128851336A>G" "" "likely benign" "" "0000530808" "0" "10" "7" "128491604" "128491604" "subst" "0.00156753" "02330" "FLNC_000281" "g.128491604G>A" "" "" "" "FLNC(NM_001458.5):c.5764G>A (p.A1922T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128851550G>A" "" "benign" "" "0000530809" "0" "10" "7" "128491606" "128491606" "subst" "0.000881211" "02330" "FLNC_000105" "g.128491606G>A" "" "" "" "FLNC(NM_001127487.1):c.5667G>A (p.(Ala1889=)), FLNC(NM_001458.4):c.5766G>A (p.A1922=), FLNC(NM_001458.5):c.5766G>A (p.A1922=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128851552G>A" "" "benign" "" "0000530810" "0" "30" "7" "128491606" "128491606" "subst" "0.000881211" "01943" "FLNC_000105" "g.128491606G>A" "" "" "" "FLNC(NM_001127487.1):c.5667G>A (p.(Ala1889=)), FLNC(NM_001458.4):c.5766G>A (p.A1922=), FLNC(NM_001458.5):c.5766G>A (p.A1922=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128851552G>A" "" "likely benign" "" "0000530811" "0" "50" "7" "128491631" "128491631" "subst" "4.46726E-5" "01943" "FLNC_000106" "g.128491631C>T" "" "" "" "FLNC(NM_001458.4):c.5791C>T (p.R1931C), FLNC(NM_001458.5):c.5791C>T (p.R1931C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128851577C>T" "" "VUS" "" "0000530812" "0" "50" "7" "128491637" "128491637" "subst" "4.06151E-6" "02330" "FLNC_000282" "g.128491637G>A" "" "" "" "FLNC(NM_001458.5):c.5797G>A (p.D1933N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128851583G>A" "" "VUS" "" "0000530813" "0" "50" "7" "128492690" "128492690" "subst" "2.8516E-5" "02326" "FLNC_000283" "g.128492690C>T" "" "" "" "FLNC(NM_001458.4):c.5888C>T (p.T1963M), FLNC(NM_001458.5):c.5888C>T (p.T1963M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128852636C>T" "" "VUS" "" "0000530814" "0" "50" "7" "128492705" "128492705" "subst" "2.85111E-5" "01943" "FLNC_000284" "g.128492705A>C" "" "" "" "FLNC(NM_001458.4):c.5903A>C (p.K1968T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128852651A>C" "" "VUS" "" "0000530815" "0" "30" "7" "128492743" "128492743" "subst" "0" "01943" "FLNC_000285" "g.128492743A>G" "" "" "" "FLNC(NM_001458.4):c.5941A>G (p.I1981V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128852689A>G" "" "likely benign" "" "0000530816" "0" "50" "7" "128492747" "128492747" "subst" "0" "01804" "FLNC_000286" "g.128492747G>A" "" "" "" "FLNC(NM_001127487.1):c.5846G>A (p.(Arg1949His)), FLNC(NM_001458.5):c.5945G>A (p.R1982H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128852693G>A" "" "VUS" "" "0000530817" "0" "10" "7" "128492817" "128492817" "subst" "0.0072462" "02330" "FLNC_000107" "g.128492817G>A" "" "" "" "FLNC(NM_001127487.1):c.5905+11G>A (p.(=)), FLNC(NM_001458.4):c.6004+11G>A, FLNC(NM_001458.5):c.6004+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128852763G>A" "" "benign" "" "0000530818" "0" "30" "7" "128492817" "128492817" "subst" "0.0072462" "01804" "FLNC_000107" "g.128492817G>A" "" "" "" "FLNC(NM_001127487.1):c.5905+11G>A (p.(=)), FLNC(NM_001458.4):c.6004+11G>A, FLNC(NM_001458.5):c.6004+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128852763G>A" "" "likely benign" "" "0000530819" "0" "10" "7" "128492825" "128492825" "subst" "0.0117504" "02330" "FLNC_000108" "g.128492825G>A" "" "" "" "FLNC(NM_001127487.1):c.5905+19G>A (p.(=)), FLNC(NM_001458.5):c.6004+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128852771G>A" "" "benign" "" "0000530820" "0" "10" "7" "128492873" "128492873" "subst" "0.00830902" "02330" "FLNC_000157" "g.128492873T>C" "" "" "" "FLNC(NM_001458.4):c.6005-9T>C, FLNC(NM_001458.5):c.6005-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128852819T>C" "" "benign" "" "0000530821" "0" "30" "7" "128492873" "128492873" "subst" "0.00830902" "02326" "FLNC_000157" "g.128492873T>C" "" "" "" "FLNC(NM_001458.4):c.6005-9T>C, FLNC(NM_001458.5):c.6005-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128852819T>C" "" "likely benign" "" "0000530822" "0" "50" "7" "128492971" "128492971" "subst" "8.12651E-6" "01943" "FLNC_000287" "g.128492971C>G" "" "" "" "FLNC(NM_001458.4):c.6094C>G (p.L2032V), FLNC(NM_001458.5):c.6094C>G (p.L2032V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128852917C>G" "" "VUS" "" "0000530823" "0" "30" "7" "128492991" "128492991" "subst" "0.000154413" "02326" "FLNC_000288" "g.128492991C>T" "" "" "" "FLNC(NM_001458.4):c.6114C>T (p.I2038=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128852937C>T" "" "likely benign" "" "0000530824" "0" "10" "7" "128492997" "128492997" "subst" "0.00128006" "02330" "FLNC_000289" "g.128492997C>T" "" "" "" "FLNC(NM_001458.5):c.6120C>T (p.D2040=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128852943C>T" "" "benign" "" "0000530825" "0" "50" "7" "128493011" "128493011" "subst" "4.47307E-5" "01943" "FLNC_000290" "g.128493011G>A" "" "" "" "FLNC(NM_001458.4):c.6134G>A (p.R2045Q), FLNC(NM_001458.5):c.6134G>A (p.R2045Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128852957G>A" "" "VUS" "" "0000530826" "0" "30" "7" "128493052" "128493052" "subst" "0.000889208" "01943" "FLNC_000112" "g.128493052G>A" "" "" "" "FLNC(NM_001127487.1):c.6076G>A (p.(Val2026Met)), FLNC(NM_001458.4):c.6175G>A (p.V2059M), FLNC(NM_001458.5):c.6175G>A (p.V2059M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128852998G>A" "" "likely benign" "" "0000530827" "0" "30" "7" "128493052" "128493052" "subst" "0.000889208" "01804" "FLNC_000112" "g.128493052G>A" "" "" "" "FLNC(NM_001127487.1):c.6076G>A (p.(Val2026Met)), FLNC(NM_001458.4):c.6175G>A (p.V2059M), FLNC(NM_001458.5):c.6175G>A (p.V2059M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128852998G>A" "" "likely benign" "" "0000530828" "0" "30" "7" "128493513" "128493513" "subst" "1.22144E-5" "02326" "FLNC_000291" "g.128493513T>G" "" "" "" "FLNC(NM_001458.4):c.6209-10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128853459T>G" "" "likely benign" "" "0000530829" "0" "30" "7" "128493596" "128493596" "subst" "4.46824E-5" "02326" "FLNC_000292" "g.128493596G>C" "" "" "" "FLNC(NM_001458.4):c.6282G>C (p.G2094=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128853542G>C" "" "likely benign" "" "0000530830" "0" "30" "7" "128493623" "128493623" "subst" "0.00117394" "01943" "FLNC_000114" "g.128493623C>T" "" "" "" "FLNC(NM_001127487.1):c.6210C>T (p.(Thr2070=)), FLNC(NM_001458.4):c.6309C>T (p.T2103=), FLNC(NM_001458.5):c.6309C>T (p.T2103=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128853569C>T" "" "likely benign" "" "0000530831" "0" "10" "7" "128493686" "128493686" "subst" "2.4372E-5" "02330" "FLNC_000293" "g.128493686G>T" "" "" "" "FLNC(NM_001458.5):c.6361+11G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128853632G>T" "" "benign" "" "0000530832" "0" "30" "7" "128493794" "128493794" "subst" "0.000203143" "02330" "FLNC_000115" "g.128493794C>T" "" "" "" "FLNC(NM_001458.4):c.6387C>T (p.T2129=), FLNC(NM_001458.5):c.6387C>T (p.T2129=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128853740C>T" "" "likely benign" "" "0000530833" "0" "50" "7" "128493858" "128493858" "subst" "0" "02325" "FLNC_000294" "g.128493858G>A" "" "" "" "FLNC(NM_001458.5):c.6451G>A (p.G2151S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128853804G>A" "" "VUS" "" "0000530834" "0" "50" "7" "128494102" "128494102" "subst" "8.1817E-6" "02330" "FLNC_000295" "g.128494102C>T" "" "" "" "FLNC(NM_001458.5):c.6559C>T (p.R2187C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854048C>T" "" "VUS" "" "0000530835" "0" "50" "7" "128494103" "128494103" "subst" "0" "02327" "FLNC_000296" "g.128494103G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854049G>C" "" "VUS" "" "0000530836" "0" "10" "7" "128494185" "128494185" "subst" "8.22368E-6" "02330" "FLNC_000297" "g.128494185C>T" "" "" "" "FLNC(NM_001458.5):c.6642C>T (p.G2214=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854131C>T" "" "benign" "" "0000530838" "0" "10" "7" "128494257" "128494257" "subst" "0.000336084" "02330" "FLNC_000299" "g.128494257C>T" "" "" "" "FLNC(NM_001458.4):c.6714C>T (p.T2238=), FLNC(NM_001458.5):c.6714C>T (p.T2238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854203C>T" "" "benign" "" "0000530839" "0" "50" "7" "128494259" "128494259" "subst" "0" "02330" "FLNC_000300" "g.128494259G>T" "" "" "" "FLNC(NM_001458.4):c.6716G>T (p.R2239L), FLNC(NM_001458.5):c.6716G>T (p.R2239L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854205G>T" "" "VUS" "" "0000530840" "0" "50" "7" "128494259" "128494259" "subst" "0" "02326" "FLNC_000300" "g.128494259G>T" "" "" "" "FLNC(NM_001458.4):c.6716G>T (p.R2239L), FLNC(NM_001458.5):c.6716G>T (p.R2239L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854205G>T" "" "VUS" "" "0000530841" "0" "30" "7" "128494263" "128494263" "subst" "5.47871E-5" "02326" "FLNC_000301" "g.128494263G>A" "" "" "" "FLNC(NM_001127487.1):c.6621G>A (p.(Gln2207=)), FLNC(NM_001458.4):c.6720G>A (p.Q2240=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854209G>A" "" "likely benign" "" "0000530842" "0" "30" "7" "128494510" "128494510" "subst" "0.00228283" "01804" "FLNC_000120" "g.128494510A>G" "" "" "" "FLNC(NM_001127487.1):c.6672A>G (p.(Pro2224=)), FLNC(NM_001458.4):c.6771A>G (p.P2257=), FLNC(NM_001458.5):c.6771A>G (p.P2257=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854456A>G" "" "likely benign" "" "0000530843" "0" "50" "7" "128494546" "128494546" "subst" "0" "01943" "FLNC_000302" "g.128494546C>T" "" "" "" "FLNC(NM_001458.4):c.6807C>T (p.G2269=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854492C>T" "" "VUS" "" "0000530844" "0" "30" "7" "128494547" "128494547" "subst" "0.000710886" "01943" "FLNC_000121" "g.128494547G>A" "" "" "" "FLNC(NM_001458.4):c.6808G>A (p.E2270K), FLNC(NM_001458.5):c.6808G>A (p.E2270K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854493G>A" "" "likely benign" "" "0000530846" "0" "30" "7" "128494564" "128494564" "subst" "4.43314E-6" "01943" "FLNC_000123" "g.128494564C>A" "" "" "" "FLNC(NM_001458.4):c.6825C>A (p.S2275R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854510C>A" "" "likely benign" "" "0000530847" "0" "50" "7" "128494599" "128494599" "subst" "0" "02326" "FLNC_000303" "g.128494599C>A" "" "" "" "FLNC(NM_001458.4):c.6860C>A (p.T2287K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854545C>A" "" "VUS" "" "0000530848" "0" "90" "7" "128494603" "128494606" "dup" "0" "02330" "FLNC_000304" "g.128494603_128494606dup" "" "" "" "FLNC(NM_001458.4):c.6864_6867dupCGCT (p.V2290Rfs*23), FLNC(NM_001458.5):c.6864_6867dupCGCT (p.V2290Rfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854549_128854552dup" "" "pathogenic" "" "0000530849" "0" "90" "7" "128494603" "128494606" "dup" "0" "01943" "FLNC_000304" "g.128494603_128494606dup" "" "" "" "FLNC(NM_001458.4):c.6864_6867dupCGCT (p.V2290Rfs*23), FLNC(NM_001458.5):c.6864_6867dupCGCT (p.V2290Rfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854549_128854552dup" "" "pathogenic" "" "0000530850" "0" "90" "7" "128494603" "128494606" "dup" "0" "02326" "FLNC_000304" "g.128494603_128494606dup" "" "" "" "FLNC(NM_001458.4):c.6864_6867dupCGCT (p.V2290Rfs*23), FLNC(NM_001458.5):c.6864_6867dupCGCT (p.V2290Rfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854549_128854552dup" "" "pathogenic" "" "0000530851" "0" "10" "7" "128494645" "128494645" "subst" "0" "02330" "FLNC_000305" "g.128494645T>C" "" "" "" "FLNC(NM_001458.5):c.6906T>C (p.F2302=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854591T>C" "" "benign" "" "0000530852" "0" "30" "7" "128494727" "128494727" "subst" "0.000673782" "01943" "FLNC_000127" "g.128494727G>A" "" "" "" "FLNC(NM_001127487.1):c.6889G>A (p.(Gly2297Ser)), FLNC(NM_001458.4):c.6988G>A (p.G2330S), FLNC(NM_001458.5):c.6988G>A (p.G2330S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854673G>A" "" "likely benign" "" "0000530853" "0" "30" "7" "128494727" "128494727" "subst" "0.000673782" "01804" "FLNC_000127" "g.128494727G>A" "" "" "" "FLNC(NM_001127487.1):c.6889G>A (p.(Gly2297Ser)), FLNC(NM_001458.4):c.6988G>A (p.G2330S), FLNC(NM_001458.5):c.6988G>A (p.G2330S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854673G>A" "" "likely benign" "" "0000530854" "0" "10" "7" "128494740" "128494740" "subst" "4.09504E-6" "02330" "FLNC_000306" "g.128494740A>G" "" "" "" "FLNC(NM_001458.5):c.6997+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854686A>G" "" "benign" "" "0000530855" "0" "10" "7" "128494860" "128494860" "subst" "2.03155E-5" "02330" "FLNC_000307" "g.128494860C>T" "" "" "" "FLNC(NM_001458.5):c.7029C>T (p.G2343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854806C>T" "" "benign" "" "0000530856" "0" "50" "7" "128494898" "128494898" "subst" "0" "01943" "FLNC_000308" "g.128494898A>T" "" "" "" "FLNC(NM_001458.4):c.7067A>T (p.K2356I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854844A>T" "" "VUS" "" "0000530857" "0" "30" "7" "128494922" "128494922" "subst" "0.00173517" "01943" "FLNC_000129" "g.128494922G>A" "" "" "" "FLNC(NM_001127487.1):c.6992G>A (p.(Arg2331His)), FLNC(NM_001458.4):c.7091G>A (p.R2364H), FLNC(NM_001458.5):c.7091G>A (p.R2364H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854868G>A" "" "likely benign" "" "0000530858" "0" "30" "7" "128494922" "128494922" "subst" "0.00173517" "02326" "FLNC_000129" "g.128494922G>A" "" "" "" "FLNC(NM_001127487.1):c.6992G>A (p.(Arg2331His)), FLNC(NM_001458.4):c.7091G>A (p.R2364H), FLNC(NM_001458.5):c.7091G>A (p.R2364H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854868G>A" "" "likely benign" "" "0000530859" "0" "50" "7" "128494922" "128494922" "subst" "0" "01943" "FLNC_000309" "g.128494922G>C" "" "" "" "FLNC(NM_001458.4):c.7091G>C (p.R2364P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854868G>C" "" "VUS" "" "0000530860" "0" "50" "7" "128494922" "128494922" "subst" "0" "02327" "FLNC_000309" "g.128494922G>C" "" "" "" "FLNC(NM_001458.4):c.7091G>C (p.R2364P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854868G>C" "" "VUS" "" "0000530861" "0" "50" "7" "128494939" "128494939" "subst" "3.65631E-5" "02330" "FLNC_000130" "g.128494939G>A" "" "" "" "FLNC(NM_001458.4):c.7108G>A (p.G2370S), FLNC(NM_001458.5):c.7108G>A (p.G2370S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854885G>A" "" "VUS" "" "0000530863" "0" "90" "7" "128494949" "128494950" "del" "0" "02330" "FLNC_000310" "g.128494949_128494950del" "" "" "" "FLNC(NM_001458.5):c.7118_7119delAT (p.Y2373Cfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854895_128854896del" "" "pathogenic" "" "0000530864" "0" "30" "7" "128494973" "128494973" "subst" "2.43986E-5" "01943" "FLNC_000311" "g.128494973G>A" "" "" "" "FLNC(NM_001458.4):c.7135+7G>A, FLNC(NM_001458.5):c.7135+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854919G>A" "" "likely benign" "" "0000530865" "0" "30" "7" "128495247" "128495247" "subst" "0.00021933" "01943" "FLNC_000312" "g.128495247C>A" "" "" "" "FLNC(NM_001458.4):c.7136-6C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128855193C>A" "" "likely benign" "" "0000530866" "0" "10" "7" "128496604" "128496604" "subst" "0" "02330" "FLNC_000313" "g.128496604C>T" "" "" "" "FLNC(NM_001458.5):c.7284C>T (p.S2428=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128856550C>T" "" "benign" "" "0000530867" "0" "30" "7" "128496609" "128496609" "subst" "9.86031E-5" "02326" "FLNC_000314" "g.128496609C>T" "" "" "" "FLNC(NM_001458.4):c.7289C>T (p.A2430V), FLNC(NM_001458.5):c.7289C>T (p.A2430V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128856555C>T" "" "likely benign" "" "0000530868" "0" "50" "7" "128496654" "128496654" "subst" "0" "02326" "FLNC_000315" "g.128496654A>G" "" "" "" "FLNC(NM_001127487.1):c.7235A>G (p.(His2412Arg)), FLNC(NM_001458.4):c.7334A>G (p.H2445R), FLNC(NM_001458.5):c.7334A>G (p.H2445R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128856600A>G" "" "VUS" "" "0000530869" "0" "50" "7" "128496813" "128496813" "subst" "4.0619E-6" "01943" "FLNC_000316" "g.128496813C>T" "" "" "" "FLNC(NM_001458.4):c.7399C>T (p.R2467C), FLNC(NM_001458.5):c.7399C>T (p.R2467C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128856759C>T" "" "VUS" "" "0000530870" "0" "50" "7" "128496813" "128496813" "subst" "4.0619E-6" "02325" "FLNC_000316" "g.128496813C>T" "" "" "" "FLNC(NM_001458.4):c.7399C>T (p.R2467C), FLNC(NM_001458.5):c.7399C>T (p.R2467C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128856759C>T" "" "VUS" "" "0000530871" "0" "50" "7" "128496837" "128496837" "subst" "2.84278E-5" "02330" "FLNC_000317" "g.128496837G>A" "" "" "" "FLNC(NM_001458.4):c.7423G>A (p.V2475I), FLNC(NM_001458.5):c.7423G>A (p.V2475I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128856783G>A" "" "VUS" "" "0000530872" "0" "30" "7" "128496863" "128496863" "subst" "1.62444E-5" "01943" "FLNC_000318" "g.128496863C>T" "" "" "" "FLNC(NM_001458.4):c.7449C>T (p.N2483=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128856809C>T" "" "likely benign" "" "0000530873" "0" "70" "7" "128496864" "128496864" "subst" "3.24884E-5" "02326" "FLNC_000319" "g.128496864G>A" "" "" "" "FLNC(NM_001458.4):c.7450G>A (p.G2484S), FLNC(NM_001458.5):c.7450G>A (p.G2484S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128856810G>A" "" "likely pathogenic" "" "0000530874" "0" "10" "7" "128496959" "128496959" "subst" "0.00216505" "02330" "FLNC_000320" "g.128496959C>T" "" "" "" "FLNC(NM_001458.4):c.7545C>T (p.L2515=), FLNC(NM_001458.5):c.7545C>T (p.L2515=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128856905C>T" "" "benign" "" "0000530875" "0" "30" "7" "128496959" "128496959" "subst" "0.00216505" "02326" "FLNC_000320" "g.128496959C>T" "" "" "" "FLNC(NM_001458.4):c.7545C>T (p.L2515=), FLNC(NM_001458.5):c.7545C>T (p.L2515=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128856905C>T" "" "likely benign" "" "0000530876" "0" "50" "7" "128496968" "128496968" "subst" "8.1682E-6" "02326" "FLNC_000321" "g.128496968C>T" "" "" "" "FLNC(NM_001458.4):c.7554C>T (p.G2518=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128856914C>T" "" "VUS" "" "0000530877" "0" "50" "7" "128497192" "128497192" "subst" "0" "02327" "FLNC_000322" "g.128497192G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128857138G>A" "" "VUS" "" "0000530878" "0" "30" "7" "128497215" "128497215" "subst" "3.70526E-5" "02326" "FLNC_000323" "g.128497215G>A" "" "" "" "FLNC(NM_001458.4):c.7605G>A (p.S2535=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128857161G>A" "" "likely benign" "" "0000530879" "0" "10" "7" "128497400" "128497400" "subst" "0.00284511" "02330" "FLNC_000136" "g.128497400A>G" "" "" "" "FLNC(NM_001458.4):c.7780+10A>G, FLNC(NM_001458.5):c.7780+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128857346A>G" "" "benign" "" "0000530880" "0" "50" "7" "128498134" "128498134" "subst" "0" "02330" "ATP6V1F_000001" "g.128498134C>T" "" "" "" "FLNC(NM_001458.5):c.7853C>T (p.S2618F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128858080C>T" "" "VUS" "" "0000530881" "0" "50" "7" "128498143" "128498143" "subst" "0.000384119" "02330" "ATP6V1F_000002" "g.128498143G>A" "" "" "" "FLNC(NM_001458.4):c.7862G>A (p.R2621Q), FLNC(NM_001458.5):c.7862G>A (p.R2621Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128858089G>A" "" "VUS" "" "0000530882" "0" "30" "7" "128498143" "128498143" "subst" "0.000384119" "01943" "ATP6V1F_000002" "g.128498143G>A" "" "" "" "FLNC(NM_001458.4):c.7862G>A (p.R2621Q), FLNC(NM_001458.5):c.7862G>A (p.R2621Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128858089G>A" "" "likely benign" "" "0000530883" "0" "10" "7" "128498143" "128498143" "subst" "0.000384119" "02326" "ATP6V1F_000002" "g.128498143G>A" "" "" "" "FLNC(NM_001458.4):c.7862G>A (p.R2621Q), FLNC(NM_001458.5):c.7862G>A (p.R2621Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128858089G>A" "" "benign" "" "0000530884" "0" "10" "7" "128498228" "128498228" "subst" "0.000586793" "02330" "FLNC_000139" "g.128498228C>T" "" "" "" "FLNC(NM_001458.4):c.7947C>T (p.F2649=), FLNC(NM_001458.5):c.7947C>T (p.F2649=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128858174C>T" "" "benign" "" "0000530885" "0" "30" "7" "128498228" "128498228" "subst" "0.000586793" "02326" "FLNC_000139" "g.128498228C>T" "" "" "" "FLNC(NM_001458.4):c.7947C>T (p.F2649=), FLNC(NM_001458.5):c.7947C>T (p.F2649=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128858174C>T" "" "likely benign" "" "0000530886" "0" "30" "7" "128498280" "128498280" "subst" "0.000386919" "01943" "ATP6V1F_000003" "g.128498280C>T" "" "" "" "FLNC(NM_001458.4):c.7990+9C>T, FLNC(NM_001458.5):c.7990+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128858226C>T" "" "likely benign" "" "0000530887" "0" "30" "7" "128498280" "128498280" "subst" "0.000386919" "02326" "ATP6V1F_000003" "g.128498280C>T" "" "" "" "FLNC(NM_001458.4):c.7990+9C>T, FLNC(NM_001458.5):c.7990+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128858226C>T" "" "likely benign" "" "0000530888" "0" "30" "7" "128498286" "128498286" "del" "0" "01804" "ATP6V1F_000004" "g.128498286del" "" "" "" "FLNC(NM_001127487.1):c.7891+15del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128858232del" "" "likely benign" "" "0000530890" "0" "10" "7" "128498520" "128498520" "subst" "0.00934982" "02330" "ATP6V1F_000006" "g.128498520T>C" "" "" "" "FLNC(NM_001127487.1):c.8022T>C (p.(Ile2674=)), FLNC(NM_001458.5):c.8121T>C (p.I2707=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128858466T>C" "" "benign" "" "0000530891" "0" "10" "7" "128498535" "128498535" "subst" "0.000113742" "02330" "ATP6V1F_000007" "g.128498535C>T" "" "" "" "FLNC(NM_001127487.1):c.8037C>T (p.(Asp2679=)), FLNC(NM_001458.5):c.8136C>T (p.D2712=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128858481C>T" "" "benign" "" "0000530892" "0" "30" "7" "128498535" "128498535" "subst" "0.000113742" "01804" "ATP6V1F_000007" "g.128498535C>T" "" "" "" "FLNC(NM_001127487.1):c.8037C>T (p.(Asp2679=)), FLNC(NM_001458.5):c.8136C>T (p.D2712=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128858481C>T" "" "likely benign" "" "0000530893" "0" "30" "7" "128498652" "128498653" "dup" "0" "02326" "ATP6V1F_000008" "g.128498652_128498653dup" "" "" "" "FLNC(NM_001458.4):c.*74_*75dupAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128858598_128858599dup" "" "likely benign" "" "0000597304" "0" "50" "7" "128488998" "128488998" "subst" "0" "00006" "FLNC_000324" "g.128488998C>T" "" "{PMID:Özyilmaz 2019:31066050}" "" "" "ACMG PM2, PP3; in silico prediction pathogenic" "Germline" "" "rs1216232195" "0" "" "" "g.128848944C>T" "" "VUS" "ACMG" "0000604183" "0" "90" "7" "128498528" "128498528" "subst" "0" "03478" "FLNC_000168" "g.128498528G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.128858474G>A" "" "pathogenic (dominant)" "" "0000610664" "0" "30" "7" "128470722" "128470722" "subst" "6.59315E-5" "01943" "FLNC_000325" "g.128470722G>A" "" "" "" "FLNC(NM_001458.4):c.31G>A (p.G11S), FLNC(NM_001458.5):c.31G>A (p.G11S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128830668G>A" "" "likely benign" "" "0000610665" "0" "50" "7" "128470831" "128470831" "subst" "1.63127E-5" "02327" "FLNC_000326" "g.128470831A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128830777A>G" "" "VUS" "" "0000610666" "0" "50" "7" "128470939" "128470956" "dup" "0" "02327" "FLNC_000327" "g.128470939_128470956dup" "" "" "" "FLNC(NM_001458.4):c.248_265dupACCGCAAGTTCCATCCGC (p.P88_R89insHRKFHP), FLNC(NM_001458.5):c.248_265dupACCGCAAGTTCCATCCGC (p.P88_R89insHRKFHP)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128830885_128830902dup" "" "VUS" "" "0000610667" "0" "30" "7" "128470985" "128470985" "subst" "0.00021633" "02327" "FLNC_000328" "g.128470985G>A" "" "" "" "FLNC(NM_001458.5):c.294G>A (p.E98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128830931G>A" "" "likely benign" "" "0000610669" "0" "50" "7" "128471019" "128471019" "subst" "0" "02327" "FLNC_000330" "g.128471019G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128830965G>A" "" "VUS" "" "0000610670" "0" "30" "7" "128471051" "128471051" "subst" "8.49048E-5" "02327" "FLNC_000331" "g.128471051C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128830997C>G" "" "likely benign" "" "0000610672" "0" "30" "7" "128475585" "128475585" "subst" "8.20082E-6" "01943" "FLNC_000183" "g.128475585G>A" "" "" "" "FLNC(NM_001458.4):c.558G>A (p.Q186=), FLNC(NM_001458.5):c.558G>A (p.Q186=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128835531G>A" "" "likely benign" "" "0000610673" "0" "30" "7" "128475585" "128475585" "subst" "8.20082E-6" "02327" "FLNC_000183" "g.128475585G>A" "" "" "" "FLNC(NM_001458.4):c.558G>A (p.Q186=), FLNC(NM_001458.5):c.558G>A (p.Q186=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128835531G>A" "" "likely benign" "" "0000610674" "0" "30" "7" "128475588" "128475588" "subst" "0.00239093" "02327" "FLNC_000013" "g.128475588C>T" "" "" "" "FLNC(NM_001458.4):c.561C>T (p.D187=), FLNC(NM_001458.5):c.561C>T (p.D187=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128835534C>T" "" "likely benign" "" "0000610675" "0" "30" "7" "128475624" "128475624" "subst" "0.00187891" "02327" "FLNC_000014" "g.128475624C>T" "" "" "" "FLNC(NM_001127487.1):c.597C>T (p.(Ala199=)), FLNC(NM_001458.4):c.597C>T (p.A199=), FLNC(NM_001458.5):c.597C>T (p.A199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128835570C>T" "" "likely benign" "" "0000610676" "0" "10" "7" "128475627" "128475627" "subst" "0.000213893" "02330" "FLNC_000184" "g.128475627C>T" "" "" "" "FLNC(NM_001458.4):c.600C>T (p.P200=), FLNC(NM_001458.5):c.600C>T (p.P200=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128835573C>T" "" "benign" "" "0000610677" "0" "30" "7" "128475627" "128475627" "subst" "0.000213893" "01943" "FLNC_000184" "g.128475627C>T" "" "" "" "FLNC(NM_001458.4):c.600C>T (p.P200=), FLNC(NM_001458.5):c.600C>T (p.P200=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128835573C>T" "" "likely benign" "" "0000610678" "0" "30" "7" "128475627" "128475627" "subst" "0.000213893" "02327" "FLNC_000184" "g.128475627C>T" "" "" "" "FLNC(NM_001458.4):c.600C>T (p.P200=), FLNC(NM_001458.5):c.600C>T (p.P200=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128835573C>T" "" "likely benign" "" "0000610679" "0" "30" "7" "128477180" "128477180" "subst" "0.000829493" "02327" "FLNC_000333" "g.128477180C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128837126C>T" "" "likely benign" "" "0000610680" "0" "10" "7" "128477203" "128477203" "subst" "0.00123151" "02330" "FLNC_000334" "g.128477203C>T" "" "" "" "FLNC(NM_001127487.1):c.602-11C>T (p.(=)), FLNC(NM_001458.5):c.602-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128837149C>T" "" "benign" "" "0000610681" "0" "10" "7" "128477203" "128477203" "subst" "0.00123151" "02327" "FLNC_000334" "g.128477203C>T" "" "" "" "FLNC(NM_001127487.1):c.602-11C>T (p.(=)), FLNC(NM_001458.5):c.602-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128837149C>T" "" "benign" "" "0000610682" "0" "30" "7" "128477421" "128477421" "subst" "4.06881E-6" "02327" "FLNC_000335" "g.128477421C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128837367C>T" "" "likely benign" "" "0000610683" "0" "30" "7" "128477422" "128477422" "subst" "8.5427E-5" "02327" "FLNC_000336" "g.128477422G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128837368G>A" "" "likely benign" "" "0000610684" "0" "30" "7" "128477606" "128477606" "subst" "4.0618E-6" "02327" "FLNC_000337" "g.128477606T>G" "" "" "" "FLNC(NM_001458.4):c.850+4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128837552T>G" "" "likely benign" "" "0000610685" "0" "30" "7" "128477712" "128477712" "subst" "0" "02327" "FLNC_000338" "g.128477712C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128837658C>T" "" "likely benign" "" "0000610686" "0" "50" "7" "128477765" "128477765" "subst" "8.88115E-6" "02327" "FLNC_000339" "g.128477765G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128837711G>A" "" "VUS" "" "0000610687" "0" "10" "7" "128477823" "128477823" "subst" "0.000193515" "02330" "FLNC_000020" "g.128477823G>T" "" "" "" "FLNC(NM_001458.4):c.969+14G>T, FLNC(NM_001458.5):c.969+14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128837769G>T" "" "benign" "" "0000610688" "0" "30" "7" "128478371" "128478371" "subst" "0" "02327" "FLNC_000340" "g.128478371G>C" "" "" "" "FLNC(NM_001458.5):c.1098G>C (p.V366=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128838317G>C" "" "likely benign" "" "0000610689" "0" "30" "7" "128478793" "128478793" "subst" "1.6295E-5" "02327" "FLNC_000341" "g.128478793C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128838739C>T" "" "likely benign" "" "0000610690" "0" "10" "7" "128478820" "128478820" "subst" "0.00358571" "02327" "FLNC_000027" "g.128478820C>T" "" "" "" "FLNC(NM_001127487.1):c.1374C>T (p.(=)), FLNC(NM_001458.4):c.1374C>T (p.P458=), FLNC(NM_001458.5):c.1374C>T (p.P458=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128838766C>T" "" "benign" "" "0000610691" "0" "30" "7" "128478852" "128478852" "subst" "4.12804E-6" "02327" "FLNC_000342" "g.128478852C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128838798C>T" "" "likely benign" "" "0000610692" "0" "30" "7" "128480069" "128480069" "subst" "0" "01943" "FLNC_000343" "g.128480069T>G" "" "" "" "FLNC(NM_001458.4):c.1412-8T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840015T>G" "" "likely benign" "" "0000610693" "0" "50" "7" "128480090" "128480090" "subst" "0" "02327" "FLNC_000344" "g.128480090C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840036C>A" "" "VUS" "" "0000610694" "0" "10" "7" "128480090" "128480090" "subst" "0.00068351" "02327" "FLNC_000199" "g.128480090C>T" "" "" "" "FLNC(NM_001458.4):c.1425C>T (p.N475=), FLNC(NM_001458.5):c.1425C>T (p.N475=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840036C>T" "" "benign" "" "0000610695" "0" "50" "7" "128480100" "128480100" "subst" "3.65863E-5" "02325" "FLNC_000345" "g.128480100G>A" "" "" "" "FLNC(NM_001458.5):c.1435G>A (p.A479T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840046G>A" "" "VUS" "" "0000610696" "0" "10" "7" "128480123" "128480123" "subst" "0.0807128" "02327" "FLNC_000029" "g.128480123C>A" "" "" "" "FLNC(NM_001458.4):c.1458C>A (p.P486=), FLNC(NM_001458.5):c.1458C>A (p.P486=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840069C>A" "" "benign" "" "0000610697" "0" "30" "7" "128480135" "128480135" "subst" "0" "02327" "FLNC_000346" "g.128480135C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840081C>A" "" "likely benign" "" "0000610698" "0" "30" "7" "128480136" "128480136" "subst" "4.875E-5" "02327" "FLNC_000031" "g.128480136G>A" "" "" "" "FLNC(NM_001458.4):c.1471G>A (p.(Val491Met), p.V491M), FLNC(NM_001458.5):c.1471G>A (p.V491M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840082G>A" "" "likely benign" "" "0000610699" "0" "30" "7" "128480139" "128480139" "subst" "0.00028029" "02327" "FLNC_000202" "g.128480139A>G" "" "" "" "FLNC(NM_001458.4):c.1474A>G (p.K492E), FLNC(NM_001458.5):c.1474A>G (p.K492E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840085A>G" "" "likely benign" "" "0000610700" "0" "30" "7" "128480184" "128480184" "subst" "0.000784304" "02327" "FLNC_000205" "g.128480184G>A" "" "" "" "FLNC(NM_001458.4):c.1519G>A (p.G507R), FLNC(NM_001458.5):c.1519G>A (p.G507R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840130G>A" "" "likely benign" "" "0000610701" "0" "30" "7" "128480232" "128480232" "subst" "2.85747E-5" "02327" "FLNC_000348" "g.128480232G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840178G>C" "" "likely benign" "" "0000610702" "0" "10" "7" "128480629" "128480629" "subst" "0.00231893" "02327" "FLNC_000033" "g.128480629G>A" "" "" "" "FLNC(NM_001127487.1):c.1577G>A (p.(Arg526Gln)), FLNC(NM_001458.4):c.1577G>A (p.R526Q), FLNC(NM_001458.5):c.1577G>A (p.R526Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840575G>A" "" "benign" "" "0000610703" "0" "30" "7" "128480660" "128480660" "subst" "0.000125889" "01943" "FLNC_000208" "g.128480660G>A" "" "" "" "FLNC(NM_001458.4):c.1608G>A (p.E536=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840606G>A" "" "likely benign" "" "0000610705" "0" "50" "7" "128480701" "128480701" "subst" "8.12242E-6" "02327" "FLNC_000350" "g.128480701C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840647C>T" "" "VUS" "" "0000610706" "0" "30" "7" "128480708" "128480708" "subst" "0" "02327" "FLNC_000351" "g.128480708C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840654C>T" "" "likely benign" "" "0000610707" "0" "30" "7" "128480725" "128480725" "subst" "3.65571E-5" "02327" "FLNC_000036" "g.128480725G>A" "" "" "" "FLNC(NM_001458.4):c.1673G>A (p.(Arg558His), p.R558H), FLNC(NM_001458.5):c.1673G>A (p.R558H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840671G>A" "" "likely benign" "" "0000610708" "0" "10" "7" "128480794" "128480825" "del" "0" "02327" "FLNC_000352" "g.128480794_128480825del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840740_128840771del" "" "benign" "" "0000610709" "0" "30" "7" "128480806" "128480839" "del" "0" "02327" "FLNC_000353" "g.128480806_128480839del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840752_128840785del" "" "likely benign" "" "0000610710" "0" "90" "7" "128481026" "128481026" "subst" "0" "02325" "FLNC_000354" "g.128481026T>C" "" "" "" "FLNC(NM_001458.4):c.1813+2T>C, FLNC(NM_001458.5):c.1813+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840972T>C" "" "pathogenic" "" "0000610711" "0" "10" "7" "128481035" "128481035" "subst" "0.000787128" "02330" "FLNC_000211" "g.128481035G>T" "" "" "" "FLNC(NM_001458.4):c.1813+11G>T, FLNC(NM_001458.5):c.1813+11G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840981G>T" "" "benign" "" "0000610712" "0" "30" "7" "128481035" "128481035" "subst" "0.000787128" "02327" "FLNC_000211" "g.128481035G>T" "" "" "" "FLNC(NM_001458.4):c.1813+11G>T, FLNC(NM_001458.5):c.1813+11G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840981G>T" "" "likely benign" "" "0000610713" "0" "10" "7" "128481060" "128481060" "subst" "0.00670534" "02327" "FLNC_000355" "g.128481060G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128841006G>A" "" "benign" "" "0000610714" "0" "10" "7" "128481196" "128481196" "subst" "0.119261" "02327" "FLNC_000356" "g.128481196T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128841142T>C" "" "benign" "" "0000610715" "0" "10" "7" "128481243" "128481243" "subst" "8.13074E-5" "02327" "FLNC_000357" "g.128481243C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128841189C>T" "" "benign" "" "0000610716" "0" "50" "7" "128481250" "128481250" "subst" "2.03201E-5" "01943" "FLNC_000358" "g.128481250G>A" "" "" "" "FLNC(NM_001458.4):c.1840G>A (p.A614T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128841196G>A" "" "VUS" "" "0000610718" "0" "90" "7" "128481358" "128481358" "subst" "0" "02325" "FLNC_000215" "g.128481358C>T" "" "" "" "FLNC(NM_001458.4):c.1948C>T (p.R650*), FLNC(NM_001458.5):c.1948C>T (p.R650*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128841304C>T" "" "pathogenic" "" "0000610719" "0" "30" "7" "128481540" "128481540" "subst" "4.46715E-5" "02327" "FLNC_000359" "g.128481540C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128841486C>T" "" "likely benign" "" "0000610720" "0" "50" "7" "128481563" "128481563" "subst" "4.06085E-6" "02330" "FLNC_000361" "g.128481563C>T" "" "" "" "FLNC(NM_001458.5):c.2063C>T (p.A688V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128841509C>T" "" "VUS" "" "0000610721" "0" "50" "7" "128481565" "128481565" "subst" "8.12163E-6" "02327" "FLNC_000216" "g.128481565G>A" "" "" "" "FLNC(NM_001458.5):c.2065G>A (p.E689K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128841511G>A" "" "VUS" "" "0000610722" "0" "30" "7" "128481578" "128481578" "subst" "0.00345573" "02327" "FLNC_000218" "g.128481578A>C" "" "" "" "FLNC(NM_001458.4):c.2078A>C (p.D693A), FLNC(NM_001458.5):c.2078A>C (p.D693A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128841524A>C" "" "likely benign" "" "0000610723" "0" "30" "7" "128482258" "128482258" "subst" "0.00338993" "02327" "FLNC_000362" "g.128482258T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128842204T>C" "" "likely benign" "" "0000610724" "0" "30" "7" "128482287" "128482287" "subst" "0.000126355" "02327" "FLNC_000363" "g.128482287C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128842233C>T" "" "likely benign" "" "0000610725" "0" "50" "7" "128482291" "128482291" "subst" "0.000321826" "02325" "FLNC_000043" "g.128482291G>A" "" "" "" "FLNC(NM_001458.4):c.2128G>A (p.D710N), FLNC(NM_001458.5):c.2128G>A (p.D710N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128842237G>A" "" "VUS" "" "0000610726" "0" "30" "7" "128482615" "128482615" "subst" "0.00220491" "02327" "FLNC_000047" "g.128482615G>C" "" "" "" "FLNC(NM_001458.5):c.2266-14G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128842561G>C" "" "likely benign" "" "0000610727" "0" "10" "7" "128482745" "128482745" "subst" "0.00037107" "02330" "FLNC_000364" "g.128482745G>A" "" "" "" "FLNC(NM_001458.5):c.2382G>A (p.A794=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128842691G>A" "" "benign" "" "0000610728" "0" "10" "7" "128482764" "128482764" "subst" "0.00096198" "02330" "FLNC_000048" "g.128482764C>T" "" "" "" "FLNC(NM_001458.4):c.2389+12C>T, FLNC(NM_001458.5):c.2389+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128842710C>T" "" "benign" "" "0000610729" "0" "30" "7" "128482764" "128482764" "subst" "0.00096198" "02327" "FLNC_000048" "g.128482764C>T" "" "" "" "FLNC(NM_001458.4):c.2389+12C>T, FLNC(NM_001458.5):c.2389+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128842710C>T" "" "likely benign" "" "0000610730" "0" "10" "7" "128482834" "128482834" "subst" "0.0101949" "02327" "FLNC_000049" "g.128482834C>T" "" "" "" "FLNC(NM_001127487.1):c.2390-14C>T (p.(=)), FLNC(NM_001458.4):c.2390-14C>T, FLNC(NM_001458.5):c.2390-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128842780C>T" "" "benign" "" "0000610731" "0" "30" "7" "128482839" "128482839" "subst" "0.00235479" "02327" "FLNC_000051" "g.128482839T>C" "" "" "" "FLNC(NM_001127487.1):c.2390-9T>C (p.(=)), FLNC(NM_001458.4):c.2390-9T>C, FLNC(NM_001458.5):c.2390-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128842785T>C" "" "likely benign" "" "0000610732" "0" "30" "7" "128482915" "128482915" "subst" "2.84537E-5" "02327" "FLNC_000366" "g.128482915C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128842861C>T" "" "likely benign" "" "0000610733" "0" "30" "7" "128482948" "128482948" "subst" "4.47085E-5" "02327" "FLNC_000225" "g.128482948C>T" "" "" "" "FLNC(NM_001458.4):c.2490C>T (p.T830=), FLNC(NM_001458.5):c.2490C>T (p.T830=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128842894C>T" "" "likely benign" "" "0000610734" "0" "50" "7" "128482949" "128482949" "subst" "2.03219E-5" "02330" "FLNC_000367" "g.128482949G>A" "" "" "" "FLNC(NM_001127487.1):c.2491G>A (p.(Val831Ile)), FLNC(NM_001458.5):c.2491G>A (p.V831I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128842895G>A" "" "VUS" "" "0000610735" "0" "10" "7" "128482959" "128482959" "subst" "0.00822425" "02327" "FLNC_000055" "g.128482959C>T" "" "" "" "FLNC(NM_001127487.1):c.2501C>T (p.(Thr834Met)), FLNC(NM_001458.4):c.2501C>T (p.T834M), FLNC(NM_001458.5):c.2501C>T (p.T834M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128842905C>T" "" "benign" "" "0000610736" "0" "50" "7" "128482965" "128482965" "subst" "0.000516311" "02327" "FLNC_000226" "g.128482965C>A" "" "" "" "FLNC(NM_001127487.1):c.2507C>A (p.(Pro836Gln)), FLNC(NM_001458.4):c.2507C>A (p.P836Q), FLNC(NM_001458.5):c.2507C>A (p.P836Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128842911C>A" "" "VUS" "" "0000610737" "0" "50" "7" "128483359" "128483359" "subst" "0" "02330" "FLNC_000058" "g.128483359G>T" "" "" "" "FLNC(NM_001458.4):c.2627G>T (p.G876V), FLNC(NM_001458.5):c.2627G>T (p.G876V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128843305G>T" "" "VUS" "" "0000610738" "0" "30" "7" "128483543" "128483543" "subst" "0" "02327" "FLNC_000369" "g.128483543G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128843489G>C" "" "likely benign" "" "0000610740" "0" "10" "7" "128484128" "128484128" "subst" "0.00103269" "02327" "FLNC_000372" "g.128484128T>C" "" "" "" "FLNC(NM_001458.4):c.3000T>C (p.D1000=), FLNC(NM_001458.5):c.3000T>C (p.D1000=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128844074T>C" "" "benign" "" "0000610741" "0" "30" "7" "128484133" "128484133" "subst" "2.44023E-5" "02327" "FLNC_000373" "g.128484133G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128844079G>A" "" "likely benign" "" "0000610742" "0" "30" "7" "128484281" "128484281" "subst" "6.57322E-5" "02327" "FLNC_000065" "g.128484281G>A" "" "" "" "FLNC(NM_001458.4):c.3153G>A (p.P1051=), FLNC(NM_001458.5):c.3153G>A (p.P1051=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128844227G>A" "" "likely benign" "" "0000610743" "0" "70" "7" "128484308" "128484308" "del" "0" "02327" "FLNC_000235" "g.128484308del" "" "" "" "FLNC(NM_001458.4):c.3180delT (p.D1061Ifs*17), FLNC(NM_001458.5):c.3180delT (p.D1061Ifs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128844254del" "" "likely pathogenic" "" "0000610744" "0" "30" "7" "128484707" "128484707" "subst" "0" "02327" "FLNC_000374" "g.128484707C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128844653C>T" "" "likely benign" "" "0000610745" "0" "30" "7" "128484813" "128484813" "subst" "1.62528E-5" "01943" "FLNC_000375" "g.128484813C>T" "" "" "" "FLNC(NM_001458.4):c.3294C>T (p.T1098=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128844759C>T" "" "likely benign" "" "0000610746" "0" "30" "7" "128484891" "128484891" "subst" "1.21863E-5" "02327" "FLNC_000376" "g.128484891G>A" "" "" "" "FLNC(NM_001458.4):c.3372G>A (p.T1124=), FLNC(NM_001458.5):c.3372G>A (p.T1124=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128844837G>A" "" "likely benign" "" "0000610747" "0" "30" "7" "128484968" "128484968" "subst" "7.31559E-5" "02327" "FLNC_000377" "g.128484968G>A" "" "" "" "FLNC(NM_001458.5):c.3449G>A (p.R1150Q, p.(Arg1150Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128844914G>A" "" "likely benign" "" "0000610749" "0" "30" "7" "128486119" "128486119" "subst" "2.03595E-5" "02327" "FLNC_000381" "g.128486119C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128846065C>T" "" "likely benign" "" "0000610750" "0" "90" "7" "128486218" "128486218" "subst" "0" "01943" "FLNC_000382" "g.128486218G>A" "" "" "" "FLNC(NM_001458.4):c.3964+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128846164G>A" "" "pathogenic" "" "0000610751" "0" "10" "7" "128486356" "128486356" "subst" "0.000811953" "02327" "FLNC_000243" "g.128486356C>T" "" "" "" "FLNC(NM_001458.4):c.3966C>T (p.G1322=), FLNC(NM_001458.5):c.3966C>T (p.G1322=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128846302C>T" "" "benign" "" "0000610752" "0" "30" "7" "128486377" "128486377" "subst" "0" "02327" "FLNC_000383" "g.128486377G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128846323G>C" "" "likely benign" "" "0000610753" "0" "50" "7" "128486444" "128486444" "subst" "2.05019E-5" "02327" "FLNC_000244" "g.128486444C>T" "" "" "" "FLNC(NM_001458.4):c.4054C>T (p.R1352C), FLNC(NM_001458.5):c.4054C>T (p.R1352C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128846390C>T" "" "VUS" "" "0000610754" "0" "30" "7" "128486805" "128486805" "subst" "2.8526E-5" "02327" "FLNC_000246" "g.128486805G>A" "" "" "" "FLNC(NM_001458.4):c.4134G>A (p.A1378=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128846751G>A" "" "likely benign" "" "0000610755" "0" "30" "7" "128486844" "128486844" "subst" "4.06293E-5" "02327" "FLNC_000384" "g.128486844G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128846790G>A" "" "likely benign" "" "0000610756" "0" "30" "7" "128486890" "128486890" "subst" "8.12308E-6" "02327" "FLNC_000385" "g.128486890G>A" "" "" "" "FLNC(NM_001458.5):c.4219G>A (p.V1407M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128846836G>A" "" "likely benign" "" "0000610758" "0" "50" "7" "128487763" "128487763" "subst" "6.09771E-5" "02330" "FLNC_000387" "g.128487763G>T" "" "" "" "FLNC(NM_001458.4):c.4301G>T (p.R1434L), FLNC(NM_001458.5):c.4301G>T (p.R1434L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128847709G>T" "" "VUS" "" "0000610759" "0" "30" "7" "128488610" "128488610" "subst" "0.00026852" "02326" "FLNC_000086" "g.128488610T>A" "" "" "" "FLNC(NM_001458.4):c.4581-5T>A, FLNC(NM_001458.5):c.4581-5T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128848556T>A" "" "likely benign" "" "0000610760" "0" "30" "7" "128488661" "128488661" "subst" "0" "02327" "FLNC_000388" "g.128488661C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128848607C>T" "" "likely benign" "" "0000610762" "0" "10" "7" "128488734" "128488734" "subst" "0.0745734" "02327" "FLNC_000087" "g.128488734G>A" "" "" "" "FLNC(NM_001458.5):c.4700G>A (p.R1567Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128848680G>A" "" "benign" "" "0000610764" "0" "10" "7" "128488780" "128488781" "del" "0" "02327" "FLNC_000090" "g.128488780_128488781del" "" "" "" "FLNC(NM_001458.4):c.4737+9_4737+10delCT, FLNC(NM_001458.5):c.4737+9_4737+10delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128848726_128848727del" "" "benign" "" "0000610765" "0" "30" "7" "128488789" "128488789" "subst" "6.10069E-5" "02326" "FLNC_000390" "g.128488789C>T" "" "" "" "FLNC(NM_001458.4):c.4737+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128848735C>T" "" "likely benign" "" "0000610766" "0" "10" "7" "128488800" "128488800" "subst" "0.0313163" "02327" "FLNC_000391" "g.128488800G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128848746G>A" "" "benign" "" "0000610767" "0" "50" "7" "128488899" "128488899" "subst" "8.14279E-6" "02330" "FLNC_000392" "g.128488899C>T" "" "" "" "FLNC(NM_001458.5):c.4790C>T (p.T1597M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128848845C>T" "" "VUS" "" "0000610768" "0" "30" "7" "128488912" "128488912" "subst" "0" "02327" "FLNC_000393" "g.128488912C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128848858C>G" "" "likely benign" "" "0000610769" "0" "10" "7" "128488921" "128488921" "subst" "2.44778E-5" "02330" "FLNC_000394" "g.128488921G>A" "" "" "" "FLNC(NM_001458.5):c.4812G>A (p.P1604=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128848867G>A" "" "benign" "" "0000610770" "0" "30" "7" "128488921" "128488921" "subst" "2.44778E-5" "02327" "FLNC_000394" "g.128488921G>A" "" "" "" "FLNC(NM_001458.5):c.4812G>A (p.P1604=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128848867G>A" "" "likely benign" "" "0000610771" "0" "50" "7" "128489034" "128489034" "subst" "0" "02327" "FLNC_000265" "g.128489034C>G" "" "" "" "FLNC(NM_001458.4):c.4925C>G (p.T1642R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128848980C>G" "" "VUS" "" "0000610772" "0" "30" "7" "128489228" "128489228" "subst" "0.00427144" "02327" "FLNC_000094" "g.128489228T>C" "" "" "" "FLNC(NM_001127487.1):c.4928-7T>C (p.(=)), FLNC(NM_001458.4):c.4928-7T>C, FLNC(NM_001458.5):c.4928-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128849174T>C" "" "likely benign" "" "0000610773" "0" "10" "7" "128489254" "128489254" "subst" "0.00130302" "02327" "FLNC_000095" "g.128489254C>T" "" "" "" "FLNC(NM_001127487.1):c.4947C>T (p.(Gly1649=)), FLNC(NM_001458.4):c.4947C>T (p.G1649=), FLNC(NM_001458.5):c.4947C>T (p.G1649=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128849200C>T" "" "benign" "" "0000610774" "0" "30" "7" "128489378" "128489378" "subst" "4.06514E-6" "02327" "FLNC_000395" "g.128489378A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128849324A>G" "" "likely benign" "" "0000610775" "0" "30" "7" "128489424" "128489424" "subst" "6.91119E-5" "02327" "FLNC_000096" "g.128489424C>T" "" "" "" "FLNC(NM_001458.4):c.4991C>T (p.T1664M), FLNC(NM_001458.5):c.4991C>T (p.T1664M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128849370C>T" "" "likely benign" "" "0000610776" "0" "50" "7" "128489453" "128489453" "subst" "0.000150328" "02327" "FLNC_000268" "g.128489453G>A" "" "" "" "FLNC(NM_001458.4):c.5020G>A (p.G1674S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128849399G>A" "" "VUS" "" "0000610777" "0" "50" "7" "128489469" "128489469" "subst" "4.0621E-6" "02327" "FLNC_000396" "g.128489469C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128849415C>A" "" "VUS" "" "0000610778" "0" "10" "7" "128489475" "128489475" "subst" "0.000544375" "02327" "FLNC_000097" "g.128489475C>G" "" "" "" "FLNC(NM_001458.4):c.5042C>G (p.T1681R), FLNC(NM_001458.5):c.5042C>G (p.T1681R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128849421C>G" "" "benign" "" "0000610779" "0" "10" "7" "128489503" "128489503" "subst" "0.000247736" "02330" "FLNC_000397" "g.128489503C>T" "" "" "" "FLNC(NM_001458.5):c.5070C>T (p.L1690=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128849449C>T" "" "benign" "" "0000610780" "0" "30" "7" "128489560" "128489560" "subst" "0.000121857" "01943" "FLNC_000270" "g.128489560C>T" "" "" "" "FLNC(NM_001458.4):c.5127C>T (p.P1709=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128849506C>T" "" "likely benign" "" "0000610781" "0" "30" "7" "128489566" "128489566" "subst" "8.1244E-6" "02327" "FLNC_000398" "g.128489566G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128849512G>A" "" "likely benign" "" "0000610782" "0" "50" "7" "128489589" "128489589" "subst" "2.84615E-5" "02330" "FLNC_000399" "g.128489589G>A" "" "" "" "FLNC(NM_001458.5):c.5156G>A (p.R1719H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128849535G>A" "" "VUS" "" "0000610783" "0" "30" "7" "128489593" "128489593" "subst" "3.66074E-5" "02327" "FLNC_000400" "g.128489593C>T" "" "" "" "FLNC(NM_001458.5):c.5160C>T (p.F1720=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128849539C>T" "" "likely benign" "" "0000610784" "0" "50" "7" "128489612" "128489612" "subst" "0" "02330" "FLNC_000401" "g.128489612A>G" "" "" "" "FLNC(NM_001458.5):c.5179A>G (p.N1727D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128849558A>G" "" "VUS" "" "0000610785" "0" "50" "7" "128490031" "128490031" "subst" "0" "01943" "FLNC_000402" "g.128490031C>T" "" "" "" "FLNC(NM_001458.4):c.5201C>T (p.A1734V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128849977C>T" "" "VUS" "" "0000610786" "0" "30" "7" "128490112" "128490112" "subst" "0" "02327" "FLNC_000403" "g.128490112C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128850058C>T" "" "likely benign" "" "0000610787" "0" "50" "7" "128490445" "128490453" "del" "0" "02327" "FLNC_000273" "g.128490445_128490453del" "" "" "" "FLNC(NM_001458.4):c.5306_5314delAGGAGCCAG (p.E1769_P1771del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128850391_128850399del" "" "VUS" "" "0000610789" "0" "30" "7" "128490513" "128490513" "subst" "0.00026026" "01943" "FLNC_000404" "g.128490513G>A" "" "" "" "FLNC(NM_001458.4):c.5374G>A (p.A1792T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128850459G>A" "" "likely benign" "" "0000610790" "0" "70" "7" "128490538" "128490538" "subst" "0" "02327" "FLNC_000405" "g.128490538G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128850484G>A" "" "likely pathogenic" "" "0000610791" "0" "30" "7" "128490844" "128490844" "subst" "0" "02327" "FLNC_000406" "g.128490844G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128850790G>T" "" "likely benign" "" "0000610792" "0" "30" "7" "128490876" "128490876" "subst" "0.000191007" "02327" "FLNC_000277" "g.128490876G>A" "" "" "" "FLNC(NM_001458.4):c.5418G>A (p.S1806=), FLNC(NM_001458.5):c.5418G>A (p.S1806=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128850822G>A" "" "likely benign" "" "0000610793" "0" "50" "7" "128490958" "128490958" "subst" "3.24971E-5" "02327" "FLNC_000407" "g.128490958C>T" "" "" "" "FLNC(NM_001458.5):c.5500C>T (p.H1834Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128850904C>T" "" "VUS" "" "0000610794" "0" "10" "7" "128491324" "128491324" "subst" "0.00525999" "02327" "FLNC_000101" "g.128491324C>T" "" "" "" "FLNC(NM_001127487.1):c.5479C>T (p.(Arg1827Cys)), FLNC(NM_001458.4):c.5578C>T (p.R1860C), FLNC(NM_001458.5):c.5578C>T (p.R1860C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128851270C>T" "" "benign" "" "0000610795" "0" "30" "7" "128491325" "128491325" "subst" "4.06177E-6" "02327" "FLNC_000408" "g.128491325G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128851271G>T" "" "likely benign" "" "0000610796" "0" "30" "7" "128491390" "128491390" "subst" "0.00107227" "02327" "FLNC_000280" "g.128491390A>G" "" "" "" "FLNC(NM_001458.4):c.5644A>G (p.I1882V), FLNC(NM_001458.5):c.5644A>G (p.I1882V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128851336A>G" "" "likely benign" "" "0000610797" "0" "10" "7" "128491497" "128491497" "subst" "0.0313582" "02327" "FLNC_000103" "g.128491497C>T" "" "" "" "FLNC(NM_001127487.1):c.5570-12C>T (p.(=)), FLNC(NM_001458.4):c.5669-12C>T, FLNC(NM_001458.5):c.5669-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128851443C>T" "" "benign" "" "0000610798" "0" "10" "7" "128491606" "128491606" "subst" "0.000881211" "02327" "FLNC_000105" "g.128491606G>A" "" "" "" "FLNC(NM_001127487.1):c.5667G>A (p.(Ala1889=)), FLNC(NM_001458.4):c.5766G>A (p.A1922=), FLNC(NM_001458.5):c.5766G>A (p.A1922=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128851552G>A" "" "benign" "" "0000610799" "0" "30" "7" "128491627" "128491627" "subst" "1.62448E-5" "02327" "FLNC_000409" "g.128491627C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128851573C>T" "" "likely benign" "" "0000610800" "0" "50" "7" "128492690" "128492690" "subst" "2.8516E-5" "02325" "FLNC_000283" "g.128492690C>T" "" "" "" "FLNC(NM_001458.4):c.5888C>T (p.T1963M), FLNC(NM_001458.5):c.5888C>T (p.T1963M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128852636C>T" "" "VUS" "" "0000610801" "0" "50" "7" "128492708" "128492708" "subst" "0" "02327" "FLNC_000410" "g.128492708T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128852654T>C" "" "VUS" "" "0000610802" "0" "50" "7" "128492746" "128492746" "subst" "0.000175083" "02327" "FLNC_000411" "g.128492746C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128852692C>T" "" "VUS" "" "0000610803" "0" "30" "7" "128492756" "128492756" "subst" "0.00021168" "02327" "FLNC_000412" "g.128492756C>T" "" "" "" "FLNC(NM_001127487.1):c.5855C>T (p.(Ser1952Leu)), FLNC(NM_001458.4):c.5954C>T (p.S1985L), FLNC(NM_001458.5):c.5954C>T (p.S1985L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128852702C>T" "" "likely benign" "" "0000610804" "0" "30" "7" "128492763" "128492763" "subst" "1.62748E-5" "02327" "FLNC_000413" "g.128492763C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128852709C>T" "" "likely benign" "" "0000610805" "0" "50" "7" "128492885" "128492885" "subst" "0" "02327" "FLNC_000414" "g.128492885T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128852831T>C" "" "VUS" "" "0000610806" "0" "50" "7" "128492893" "128492895" "del" "0" "02327" "FLNC_000415" "g.128492893_128492895del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128852839_128852841del" "" "VUS" "" "0000610807" "0" "30" "7" "128492971" "128492971" "subst" "8.12651E-6" "02327" "FLNC_000287" "g.128492971C>G" "" "" "" "FLNC(NM_001458.4):c.6094C>G (p.L2032V), FLNC(NM_001458.5):c.6094C>G (p.L2032V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128852917C>G" "" "likely benign" "" "0000610808" "0" "30" "7" "128493052" "128493052" "subst" "0.000889208" "02327" "FLNC_000112" "g.128493052G>A" "" "" "" "FLNC(NM_001127487.1):c.6076G>A (p.(Val2026Met)), FLNC(NM_001458.4):c.6175G>A (p.V2059M), FLNC(NM_001458.5):c.6175G>A (p.V2059M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128852998G>A" "" "likely benign" "" "0000610809" "0" "50" "7" "128493082" "128493082" "subst" "0" "02327" "FLNC_000113" "g.128493082G>A" "" "" "" "FLNC(NM_001458.4):c.6205G>A (p.A2069T), FLNC(NM_001458.5):c.6205G>A (p.A2069T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128853028G>A" "" "VUS" "" "0000610810" "0" "10" "7" "128493623" "128493623" "subst" "0.00117394" "02327" "FLNC_000114" "g.128493623C>T" "" "" "" "FLNC(NM_001127487.1):c.6210C>T (p.(Thr2070=)), FLNC(NM_001458.4):c.6309C>T (p.T2103=), FLNC(NM_001458.5):c.6309C>T (p.T2103=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128853569C>T" "" "benign" "" "0000610811" "0" "30" "7" "128493794" "128493794" "subst" "0.000203143" "01943" "FLNC_000115" "g.128493794C>T" "" "" "" "FLNC(NM_001458.4):c.6387C>T (p.T2129=), FLNC(NM_001458.5):c.6387C>T (p.T2129=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128853740C>T" "" "likely benign" "" "0000610813" "0" "70" "7" "128493805" "128493805" "subst" "0" "02327" "FLNC_000417" "g.128493805G>A" "" "" "" "FLNC(NM_001458.5):c.6398G>A (p.R2133H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128853751G>A" "" "likely pathogenic" "" "0000610814" "0" "10" "7" "128493866" "128493866" "subst" "0.00831491" "02327" "FLNC_000116" "g.128493866C>T" "" "" "" "FLNC(NM_001458.5):c.6459C>T (p.T2153=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128853812C>T" "" "benign" "" "0000610815" "0" "50" "7" "128494081" "128494081" "subst" "3.28372E-5" "02327" "FLNC_000418" "g.128494081C>T" "" "" "" "FLNC(NM_001458.5):c.6538C>T (p.R2180C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854027C>T" "" "VUS" "" "0000610816" "0" "30" "7" "128494137" "128494137" "subst" "6.1407E-5" "02327" "FLNC_000419" "g.128494137C>T" "" "" "" "FLNC(NM_001458.4):c.6594C>T (p.G2198=), FLNC(NM_001458.5):c.6594C>T (p.G2198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854083C>T" "" "likely benign" "" "0000610817" "0" "50" "7" "128494160" "128494160" "subst" "4.10408E-6" "02330" "FLNC_000420" "g.128494160G>A" "" "" "" "FLNC(NM_001458.5):c.6617G>A (p.R2206Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854106G>A" "" "VUS" "" "0000610818" "0" "30" "7" "128494232" "128494232" "subst" "9.14548E-5" "02327" "FLNC_000421" "g.128494232G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854178G>A" "" "likely benign" "" "0000610819" "0" "30" "7" "128494246" "128494246" "subst" "1.25372E-5" "02327" "FLNC_000422" "g.128494246G>A" "" "" "" "FLNC(NM_001458.5):c.6703G>A (p.G2235S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854192G>A" "" "likely benign" "" "0000610820" "0" "10" "7" "128494510" "128494510" "subst" "0.00228283" "02327" "FLNC_000120" "g.128494510A>G" "" "" "" "FLNC(NM_001127487.1):c.6672A>G (p.(Pro2224=)), FLNC(NM_001458.4):c.6771A>G (p.P2257=), FLNC(NM_001458.5):c.6771A>G (p.P2257=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854456A>G" "" "benign" "" "0000610821" "0" "50" "7" "128494529" "128494529" "subst" "0" "02327" "FLNC_000424" "g.128494529G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854475G>A" "" "VUS" "" "0000610822" "0" "30" "7" "128494556" "128494556" "subst" "0.000124378" "02327" "FLNC_000425" "g.128494556G>A" "" "" "" "FLNC(NM_001458.4):c.6817G>A (p.A2273T), FLNC(NM_001458.5):c.6817G>A (p.A2273T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854502G>A" "" "likely benign" "" "0000610823" "0" "50" "7" "128494563" "128494563" "subst" "0" "02325" "FLNC_000122" "g.128494563G>T" "" "" "" "FLNC(NM_001458.5):c.6824G>T (p.S2275I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854509G>T" "" "VUS" "" "0000610824" "0" "30" "7" "128494603" "128494603" "subst" "4.76009E-5" "02327" "FLNC_000124" "g.128494603C>T" "" "" "" "FLNC(NM_001458.4):c.6864C>T (p.V2288=), FLNC(NM_001458.5):c.6864C>T (p.V2288=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854549C>T" "" "likely benign" "" "0000610825" "0" "90" "7" "128494603" "128494606" "dup" "0" "02327" "FLNC_000304" "g.128494603_128494606dup" "" "" "" "FLNC(NM_001458.4):c.6864_6867dupCGCT (p.V2290Rfs*23), FLNC(NM_001458.5):c.6864_6867dupCGCT (p.V2290Rfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854549_128854552dup" "" "pathogenic" "" "0000610826" "0" "10" "7" "128494627" "128494627" "subst" "0.00028216" "02330" "FLNC_000126" "g.128494627C>T" "" "" "" "FLNC(NM_001458.4):c.6888C>T (p.H2296=), FLNC(NM_001458.5):c.6888C>T (p.H2296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854573C>T" "" "benign" "" "0000610827" "0" "30" "7" "128494627" "128494627" "subst" "0.00028216" "02327" "FLNC_000126" "g.128494627C>T" "" "" "" "FLNC(NM_001458.4):c.6888C>T (p.H2296=), FLNC(NM_001458.5):c.6888C>T (p.H2296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854573C>T" "" "likely benign" "" "0000610828" "0" "50" "7" "128494634" "128494634" "subst" "0" "02327" "FLNC_000426" "g.128494634G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854580G>A" "" "VUS" "" "0000610830" "0" "30" "7" "128494824" "128494824" "subst" "0.000296654" "01943" "FLNC_000428" "g.128494824C>T" "" "" "" "FLNC(NM_001458.4):c.6998-5C>T, FLNC(NM_001458.5):c.6998-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854770C>T" "" "likely benign" "" "0000610831" "0" "50" "7" "128494861" "128494861" "subst" "1.21893E-5" "02327" "FLNC_000429" "g.128494861G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854807G>A" "" "VUS" "" "0000610832" "0" "30" "7" "128494909" "128494909" "subst" "4.06309E-6" "02327" "FLNC_000430" "g.128494909G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854855G>A" "" "likely benign" "" "0000610833" "0" "30" "7" "128495249" "128495249" "subst" "4.06154E-6" "02327" "FLNC_000431" "g.128495249C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128855195C>T" "" "likely benign" "" "0000610834" "0" "50" "7" "128495258" "128495258" "subst" "0" "02327" "FLNC_000432" "g.128495258T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128855204T>G" "" "VUS" "" "0000610836" "0" "10" "7" "128495302" "128495302" "subst" "0.000662004" "02327" "FLNC_000434" "g.128495302C>T" "" "" "" "FLNC(NM_001458.4):c.7185C>T (p.S2395=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128855248C>T" "" "benign" "" "0000610837" "0" "50" "7" "128496609" "128496609" "subst" "9.86031E-5" "02327" "FLNC_000314" "g.128496609C>T" "" "" "" "FLNC(NM_001458.4):c.7289C>T (p.A2430V), FLNC(NM_001458.5):c.7289C>T (p.A2430V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128856555C>T" "" "VUS" "" "0000610839" "0" "70" "7" "128496685" "128496685" "subst" "0" "01943" "FLNC_000436" "g.128496685C>A" "" "" "" "FLNC(NM_001458.4):c.7365C>A (p.Y2455*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128856631C>A" "" "likely pathogenic" "" "0000610840" "0" "30" "7" "128496700" "128496700" "subst" "0" "02327" "FLNC_000437" "g.128496700C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128856646C>G" "" "likely benign" "" "0000610841" "0" "10" "7" "128497219" "128497219" "subst" "0.0012837" "02327" "FLNC_000132" "g.128497219G>A" "" "" "" "FLNC(NM_001458.4):c.7609G>A (p.A2537T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128857165G>A" "" "benign" "" "0000610842" "0" "50" "7" "128497237" "128497237" "subst" "0" "02325" "FLNC_000438" "g.128497237G>C" "" "" "" "FLNC(NM_001458.5):c.7627G>C (p.D2543H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128857183G>C" "" "VUS" "" "0000610843" "0" "50" "7" "128497262" "128497262" "subst" "8.13464E-6" "02327" "FLNC_000439" "g.128497262A>G" "" "" "" "FLNC(NM_001458.5):c.7652A>G (p.D2551G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128857208A>G" "" "VUS" "" "0000610844" "0" "10" "7" "128498022" "128498022" "subst" "0" "02327" "ATP6V1F_000009" "g.128498022C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128857968C>G" "" "benign" "" "0000610845" "0" "50" "7" "128498088" "128498088" "subst" "1.10785E-5" "02326" "ATP6V1F_000010" "g.128498088C>T" "" "" "" "FLNC(NM_001458.4):c.7807C>T (p.L2603F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128858034C>T" "" "VUS" "" "0000610846" "0" "30" "7" "128498190" "128498190" "subst" "6.57009E-5" "02327" "ATP6V1F_000011" "g.128498190A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128858136A>C" "" "likely benign" "" "0000610847" "0" "10" "7" "128498228" "128498228" "subst" "0.000586793" "02327" "FLNC_000139" "g.128498228C>T" "" "" "" "FLNC(NM_001458.4):c.7947C>T (p.F2649=), FLNC(NM_001458.5):c.7947C>T (p.F2649=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128858174C>T" "" "benign" "" "0000610848" "0" "10" "7" "128498280" "128498280" "subst" "0.000386919" "02330" "ATP6V1F_000003" "g.128498280C>T" "" "" "" "FLNC(NM_001458.4):c.7990+9C>T, FLNC(NM_001458.5):c.7990+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128858226C>T" "" "benign" "" "0000610849" "0" "30" "7" "128498281" "128498281" "subst" "4.51078E-5" "02327" "ATP6V1F_000012" "g.128498281G>A" "" "" "" "FLNC(NM_001458.5):c.7990+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128858227G>A" "" "likely benign" "" "0000610850" "0" "30" "7" "128498371" "128498371" "subst" "0.000359063" "02327" "FLNC_000140" "g.128498371C>T" "" "" "" "FLNC(NM_001127487.1):c.7892-19C>T (p.(=)), FLNC(NM_001458.4):c.7991-19C>T, FLNC(NM_001458.5):c.7991-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128858317C>T" "" "likely benign" "" "0000610851" "0" "10" "7" "128498517" "128498517" "subst" "0.00951282" "02327" "FLNC_000142" "g.128498517C>T" "" "" "" "FLNC(NM_001127487.1):c.8019C>T (p.(Leu2673=)), FLNC(NM_001458.5):c.8118C>T (p.L2706=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128858463C>T" "" "benign" "" "0000610852" "0" "10" "7" "128498520" "128498520" "subst" "0.00934982" "02327" "ATP6V1F_000006" "g.128498520T>C" "" "" "" "FLNC(NM_001127487.1):c.8022T>C (p.(Ile2674=)), FLNC(NM_001458.5):c.8121T>C (p.I2707=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128858466T>C" "" "benign" "" "0000610853" "0" "10" "7" "128498578" "128498578" "subst" "0.0124216" "02327" "FLNC_000143" "g.128498578A>G" "" "" "" "FLNC(NM_001458.5):c.*1A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128858524A>G" "" "benign" "" "0000621817" "0" "10" "7" "128470985" "128470985" "subst" "0.00021633" "02330" "FLNC_000328" "g.128470985G>A" "" "" "" "FLNC(NM_001458.5):c.294G>A (p.E98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128830931G>A" "" "benign" "" "0000621818" "0" "50" "7" "128480193" "128480193" "subst" "2.03216E-5" "01943" "FLNC_000347" "g.128480193A>C" "" "" "" "FLNC(NM_001458.4):c.1528A>C (p.K510Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840139A>C" "" "VUS" "" "0000621819" "0" "50" "7" "128480620" "128480620" "subst" "0.00021118" "02330" "FLNC_000349" "g.128480620T>C" "" "" "" "FLNC(NM_001458.4):c.1568T>C (p.V523A), FLNC(NM_001458.5):c.1568T>C (p.V523A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840566T>C" "" "VUS" "" "0000621820" "0" "50" "7" "128481541" "128481541" "subst" "5.2791E-5" "01943" "FLNC_000360" "g.128481541G>A" "" "" "" "FLNC(NM_001458.4):c.2041G>A (p.G681S), FLNC(NM_001458.5):c.2041G>A (p.G681S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128841487G>A" "" "VUS" "" "0000621821" "0" "30" "7" "128482655" "128482655" "subst" "9.54094E-5" "02326" "FLNC_000224" "g.128482655C>T" "" "" "" "FLNC(NM_001458.4):c.2292C>T (p.P764=), FLNC(NM_001458.5):c.2292C>T (p.P764=, p.(Pro764=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128842601C>T" "" "likely benign" "" "0000621822" "0" "30" "7" "128482836" "128482836" "subst" "0.000163861" "02326" "FLNC_000365" "g.128482836G>A" "" "" "" "FLNC(NM_001458.4):c.2390-12G>A, FLNC(NM_001458.5):c.2390-12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128842782G>A" "" "likely benign" "" "0000621823" "0" "50" "7" "128483482" "128483482" "subst" "0" "02325" "FLNC_000368" "g.128483482A>G" "" "" "" "FLNC(NM_001458.5):c.2662A>G (p.T888A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128843428A>G" "" "VUS" "" "0000621824" "0" "50" "7" "128483551" "128483551" "subst" "0" "02326" "FLNC_000370" "g.128483551A>G" "" "" "" "FLNC(NM_001458.4):c.2731A>G (p.K911E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128843497A>G" "" "VUS" "" "0000621825" "0" "50" "7" "128483938" "128483938" "subst" "0" "02330" "FLNC_000371" "g.128483938G>C" "" "" "" "FLNC(NM_001458.5):c.2900G>C (p.S967T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128843884G>C" "" "VUS" "" "0000621826" "0" "30" "7" "128484891" "128484891" "subst" "1.21863E-5" "02330" "FLNC_000376" "g.128484891G>A" "" "" "" "FLNC(NM_001458.4):c.3372G>A (p.T1124=), FLNC(NM_001458.5):c.3372G>A (p.T1124=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128844837G>A" "" "likely benign" "" "0000621827" "0" "50" "7" "128485264" "128485264" "subst" "1.6402E-5" "01943" "FLNC_000378" "g.128485264G>A" "" "" "" "FLNC(NM_001458.4):c.3745G>A (p.D1249N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128845210G>A" "" "VUS" "" "0000621828" "0" "30" "7" "128486036" "128486036" "subst" "0.000122427" "02326" "FLNC_000380" "g.128486036G>A" "" "" "" "FLNC(NM_001458.4):c.3791-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128845982G>A" "" "likely benign" "" "0000621829" "0" "30" "7" "128486356" "128486356" "subst" "0.000811953" "01943" "FLNC_000243" "g.128486356C>T" "" "" "" "FLNC(NM_001458.4):c.3966C>T (p.G1322=), FLNC(NM_001458.5):c.3966C>T (p.G1322=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128846302C>T" "" "likely benign" "" "0000621830" "0" "50" "7" "128490450" "128490450" "subst" "0.000247875" "01943" "FLNC_000274" "g.128490450C>G" "" "" "" "FLNC(NM_001127487.1):c.5212C>G (p.(Pro1738Ala)), FLNC(NM_001458.4):c.5311C>G (p.P1771A), FLNC(NM_001458.5):c.5311C>G (p.P1771A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128850396C>G" "" "VUS" "" "0000621831" "0" "30" "7" "128490876" "128490876" "subst" "0.000191007" "02326" "FLNC_000277" "g.128490876G>A" "" "" "" "FLNC(NM_001458.4):c.5418G>A (p.S1806=), FLNC(NM_001458.5):c.5418G>A (p.S1806=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128850822G>A" "" "likely benign" "" "0000621832" "0" "50" "7" "128494259" "128494259" "subst" "0" "01943" "FLNC_000423" "g.128494259G>A" "" "" "" "FLNC(NM_001458.4):c.6716G>A (p.R2239Q), FLNC(NM_001458.5):c.6716G>A (p.R2239Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854205G>A" "" "VUS" "" "0000629463" "1" "90" "7" "128496823" "128496823" "subst" "0" "00006" "FLNC_000440" "g.128496823C>A" "" "{PMID:Reddy 2017:27708273}" "" "" "" "Germline" "" "" "0" "" "" "g.128856769C>A" "" "pathogenic (dominant)" "" "0000643211" "0" "70" "7" "128470806" "128470806" "subst" "0" "03571" "FLNC_000443" "g.128470806C>T" "" "{PMID:Janin 2017:28436997}" "" "" "" "Germline" "" "" "0" "" "" "g.128830752C>T" "" "likely pathogenic" "" "0000643212" "0" "70" "7" "128470710" "128470710" "del" "0" "03571" "FLNC_000441" "g.128470710del" "" "{PMID:Ader 2019:31245841}" "" "" "" "Germline" "" "" "0" "" "" "g.128830656del" "" "likely pathogenic" "" "0000643213" "0" "70" "7" "128470921" "128470925" "del" "0" "03571" "FLNC_000444" "g.128470921_128470925del" "" "{PMID:Janin 2017:28436997}" "" "230_234delTCAGC" "" "Germline" "" "" "0" "" "" "g.128830867_128830871del" "" "likely pathogenic" "" "0000643214" "0" "70" "7" "128470932" "128470932" "del" "0" "03571" "FLNC_000445" "g.128470932del" "" "{PMID:Ortiz-Genga 2016:27908349}" "" "241delC" "" "Germline" "" "" "0" "" "" "g.128830878del" "" "likely pathogenic" "" "0000643215" "0" "50" "7" "128470939" "128470956" "dup" "0" "03571" "FLNC_000327" "g.128470939_128470956dup" "" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.128830885_128830902dup" "" "VUS" "" "0000643216" "0" "70" "7" "128470940" "128470940" "subst" "0" "03571" "FLNC_000447" "g.128470940C>G" "" "{PMID:Ortiz-Genga 2016:27908349}" "" "" "" "Germline" "" "" "0" "" "" "g.128830886C>G" "" "likely pathogenic" "" "0000643217" "0" "70" "7" "128471009" "128471009" "subst" "5.34544E-5" "03571" "FLNC_000329" "g.128471009C>G" "" "{PMID:Reinstein 2016:27601210}" "" "" "" "Germline" "" "" "0" "" "" "g.128830955C>G" "" "likely pathogenic" "" "0000643218" "0" "70" "7" "128471013" "128471013" "subst" "0" "03571" "FLNC_000448" "g.128471013G>T" "" "{PMID:Valdes-Mas2014:25351925}" "" "" "" "Germline" "" "" "0" "" "" "g.128830959G>T" "" "likely pathogenic" "" "0000643219" "0" "50" "7" "128471019" "128471019" "subst" "0" "03571" "FLNC_000330" "g.128471019G>A" "" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.128830965G>A" "" "VUS" "" "0000643220" "0" "70" "7" "128470793" "128470793" "subst" "0" "03571" "FLNC_000442" "g.128470793G>A" "" "{PMID:Bains 2019:30935706}" "" "" "" "Germline" "" "" "0" "" "" "g.128830739G>A" "" "likely pathogenic" "" "0000643221" "0" "70" "7" "128475394" "128475394" "subst" "0" "03571" "FLNC_000332" "g.128475394G>A" "" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.128835340G>A" "" "likely pathogenic" "" "0000643222" "0" "70" "7" "128475395" "128475395" "subst" "0" "03571" "FLNC_000449" "g.128475395T>C" "" "{PMID:Valdes-Mas2014:25351925}" "" "" "" "Germline" "" "" "0" "" "" "g.128835341T>C" "" "likely pathogenic" "" "0000643223" "0" "70" "7" "128475431" "128475431" "subst" "0" "03571" "FLNC_000180" "g.128475431G>A" "" "LOVD" "" "" "" "Germline" "" "" "0" "" "" "g.128835377G>A" "" "likely pathogenic" "" "0000643224" "0" "70" "7" "128475608" "128475626" "del" "0" "03571" "FLNC_000450" "g.128475608_128475626del" "" "{PMID:Ortiz-Genga 2016:27908349}" "" "581_599del19" "" "Germline" "" "" "0" "" "" "g.128835554_128835572del" "" "likely pathogenic" "" "0000643225" "0" "70" "7" "128475629" "128475629" "subst" "0" "03571" "FLNC_000451" "g.128475629G>T" "" "{PMID:Janin 2017:28436997}" "" "" "" "Germline" "" "" "0" "" "" "g.128835575G>T" "" "likely pathogenic" "" "0000643226" "0" "50" "7" "128475476" "128475476" "subst" "3.25087E-5" "03571" "FLNC_000171" "g.128475476A>G" "" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.128835422A>G" "" "VUS" "" "0000643227" "0" "70" "7" "128475604" "128475604" "subst" "0" "03571" "FLNC_000146" "g.128475604G>A" "" "{PMID:Duff 2011:21620354}" "" "" "" "Germline" "" "" "0" "" "" "g.128835550G>A" "" "likely pathogenic" "" "0000643228" "0" "70" "7" "128476498" "128478081" "delins" "0" "03571" "FLNC_000452" "g.128476498_128478081delins128474004_128474041" "" "{PMID:Ortiz-Genga 2016:27908349}" "" "602-716_1010delinsTGCCCCGGGAGGGGTGCCTCAGTCTCCCTGTCCCTCTG" "" "Germline" "" "" "0" "" "" "g.128836444_128838027delins128833950_128833987" "" "likely pathogenic" "" "0000643229" "0" "70" "7" "128477309" "128477309" "subst" "0" "03571" "FLNC_000016" "g.128477309C>T" "" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.128837255C>T" "" "likely pathogenic" "" "0000643230" "0" "70" "7" "128477276" "128477276" "subst" "0" "03571" "FLNC_000453" "g.128477276A>G" "" "{PMID:Gemelli 2019:30685713}" "" "" "" "Germline" "" "" "0" "" "" "g.128837222A>G" "" "likely pathogenic" "" "0000643231" "0" "70" "7" "128477463" "128477463" "del" "0" "03571" "FLNC_000454" "g.128477463del" "" "{PMID:Ader 2019:31245841}" "" "" "" "Germline" "" "" "0" "" "" "g.128837409del" "" "likely pathogenic" "" "0000643232" "0" "50" "7" "128477495" "128477495" "subst" "0" "03571" "FLNC_000188" "g.128477495A>T" "" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.128837441A>T" "" "VUS" "" "0000643233" "0" "70" "7" "128477557" "128477557" "subst" "4.06121E-6" "03571" "FLNC_000456" "g.128477557C>T" "" "{PMID:Begay 2018:30067491}" "" "" "" "Germline" "" "" "0" "" "" "g.128837503C>T" "" "likely pathogenic" "" "0000643234" "0" "50" "7" "128477606" "128477606" "subst" "4.0618E-6" "03571" "FLNC_000337" "g.128477606T>G" "" "{PMID:Cui 2018:30411535}" "" "" "" "Germline" "" "" "0" "" "" "g.128837552T>G" "" "VUS" "" "0000643235" "0" "70" "7" "128477504" "128477504" "subst" "0" "03571" "FLNC_000455" "g.128477504T>C" "" "{PMID:Duff 2011:21620354}" "" "" "" "Germline" "" "" "0" "" "" "g.128837450T>C" "" "likely pathogenic" "" "0000643236" "0" "50" "7" "128477710" "128477710" "subst" "0" "03571" "FLNC_000457" "g.128477710C>A" "" "{PMID:Valdes-Mas2014:25351925}" "" "" "" "Germline" "" "" "0" "" "" "g.128837656C>A" "" "VUS" "" "0000643237" "0" "50" "7" "128477765" "128477765" "subst" "8.88115E-6" "03571" "FLNC_000339" "g.128477765G>A" "" "{PMID:Weihl 2015:25617006}" "" "" "" "Germline" "" "" "0" "" "" "g.128837711G>A" "" "VUS" "" "0000643238" "0" "50" "7" "128477812" "128477812" "subst" "0" "03571" "FLNC_000459" "g.128477812A>G" "" "{PMID:Dai 2015:25987458}" "" "" "" "Germline" "" "" "0" "" "" "g.128837758A>G" "" "VUS" "" "0000643239" "0" "50" "7" "128478037" "128478037" "subst" "2.43885E-5" "03571" "FLNC_000190" "g.128478037A>G" "" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.128837983A>G" "" "VUS" "" "0000643240" "0" "50" "7" "128478057" "128478057" "subst" "1.21873E-5" "03571" "FLNC_000460" "g.128478057A>G" "" "{PMID:Alejandra Restrepo-Cordoba 2017:28138913}" "" "" "" "Germline" "" "" "0" "" "" "g.128838003A>G" "" "VUS" "" "0000643241" "0" "50" "7" "128478349" "128478349" "subst" "0" "03571" "FLNC_000461" "g.128478349T>C" "" "{PMID:Cui 2018:30411535}" "" "" "" "Germline" "" "" "0" "" "" "g.128838295T>C" "" "VUS" "" "0000643242" "0" "50" "7" "128478405" "128478405" "subst" "0" "03571" "FLNC_000462" "g.128478405G>T" "" "{PMID:Cui 2018:30411535}" "" "" "" "Germline" "" "" "0" "" "" "g.128838351G>T" "" "VUS" "" "0000643243" "0" "50" "7" "128478652" "128478652" "subst" "2.87708E-5" "03571" "FLNC_000147" "g.128478652G>A" "" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.128838598G>A" "" "VUS" "" "0000643244" "0" "70" "7" "128480076" "128480076" "subst" "4.07647E-6" "03571" "FLNC_000465" "g.128480076G>A" "" "{PMID:Ader 2019:31245841}" "" "" "" "Germline" "" "" "0" "" "" "g.128840022G>A" "" "likely pathogenic" "" "0000643245" "0" "50" "7" "128480090" "128480090" "subst" "0" "03571" "FLNC_000344" "g.128480090C>A" "" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.128840036C>A" "" "VUS" "" "0000643246" "0" "70" "7" "128480109" "128480109" "subst" "0" "03571" "FLNC_000466" "g.128480109C>T" "" "{PMID:Tobita 2017:29235529}" "" "" "" "Germline" "" "" "0" "" "" "g.128840055C>T" "" "likely pathogenic" "" "0000643247" "0" "70" "7" "128480131" "128480137" "del" "0" "03571" "FLNC_000200" "g.128480131_128480137del" "" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.128840077_128840083del" "" "likely pathogenic" "" "0000643248" "0" "70" "7" "128480131" "128480138" "delins" "0" "03571" "FLNC_000467" "g.128480131_128480138delinsA" "" "LOVD" "" "" "" "Germline" "" "" "0" "" "" "g.128840077_128840084delinsA" "" "likely pathogenic" "" "0000643249" "0" "50" "7" "128480629" "128480629" "subst" "0.00231893" "03571" "FLNC_000033" "g.128480629G>A" "" "{PMID:Weihl 2015:25617006}" "" "" "" "Germline" "" "" "0" "" "" "g.128840575G>A" "" "VUS" "" "0000643250" "0" "70" "7" "128480925" "128480925" "subst" "0" "03571" "FLNC_000469" "g.128480925C>T" "" "{PMID:Ortiz-Genga 2016:27908349}" "" "" "" "Germline" "" "" "0" "" "" "g.128840871C>T" "" "likely pathogenic" "" "0000643251" "0" "50" "7" "128480934" "128480934" "subst" "1.22355E-5" "03571" "FLNC_000470" "g.128480934C>T" "" "{PMID:Weihl 2015:25617006}" "" "" "" "Germline" "" "" "0" "" "" "g.128840880C>T" "" "VUS" "" "0000643252" "0" "50" "7" "128481292" "128481292" "subst" "0" "03571" "FLNC_000471" "g.128481292G>A" "" "{PMID:Cui 2018:30411535}" "" "" "" "Germline" "" "" "0" "" "" "g.128841238G>A" "" "VUS" "" "0000643253" "0" "70" "7" "128481300" "128481300" "subst" "0" "03571" "FLNC_000472" "g.128481300C>A" "" "{PMID:Janin 2017:28436997}" "" "" "" "Germline" "" "" "0" "" "" "g.128841246C>A" "" "likely pathogenic" "" "0000643254" "0" "70" "7" "128481358" "128481358" "subst" "0" "03571" "FLNC_000215" "g.128481358C>T" "" "LOVD" "" "" "" "Germline" "" "" "0" "" "" "g.128841304C>T" "" "likely pathogenic" "" "0000643255" "0" "50" "7" "128481346" "128481346" "subst" "1.62473E-5" "03571" "FLNC_000150" "g.128481346G>A" "" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.128841292G>A" "" "VUS" "" "0000643256" "0" "70" "7" "128481352" "128481352" "subst" "0" "03571" "FLNC_000473" "g.128481352G>T" "" "{PMID:Zhang 2018:30539912}" "" "" "" "Germline" "" "" "0" "" "" "g.128841298G>T" "" "likely pathogenic" "" "0000643257" "0" "70" "7" "128481541" "128481547" "dup" "0" "03571" "FLNC_000474" "g.128481541_128481547dup" "" "{PMID:Ader 2019:31245841}" "" "" "" "Germline" "" "" "0" "" "" "g.128841487_128841493dup" "" "likely pathogenic" "" "0000643258" "0" "50" "7" "128481550" "128481550" "subst" "1.62434E-5" "03571" "FLNC_000475" "g.128481550G>C" "" "{PMID:Cui 2018:30411535}" "" "" "" "Germline" "" "" "0" "" "" "g.128841496G>C" "" "VUS" "" "0000643259" "0" "50" "7" "128481584" "128481584" "subst" "1.62435E-5" "03571" "FLNC_000476" "g.128481584G>A" "" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.128841530G>A" "" "VUS" "" "0000643260" "0" "70" "7" "128481619" "128481619" "subst" "0" "03571" "FLNC_000477" "g.128481619C>T" "" "{PMID:Begay 2018:30067491}" "" "" "" "Germline" "" "" "0" "" "" "g.128841565C>T" "" "likely pathogenic" "" "0000643261" "0" "50" "7" "128481578" "128481578" "subst" "0.00345573" "03571" "FLNC_000218" "g.128481578A>C" "" "{PMID:Weihl 2015:25617006}" "" "" "" "Germline" "" "" "0" "" "" "g.128841524A>C" "" "VUS" "" "0000643262" "0" "50" "7" "128482333" "128482333" "subst" "4.06742E-6" "03571" "FLNC_000478" "g.128482333G>A" "" "{PMID:Cui 2018:30411535}" "" "" "" "Germline" "" "" "0" "" "" "g.128842279G>A" "" "VUS" "" "0000643263" "0" "70" "7" "128482371" "128482371" "del" "0" "03571" "FLNC_000479" "g.128482371del" "" "{PMID:Ortiz-Genga 2016:27908349}" "" "2208delT" "" "Germline" "" "" "0" "" "" "g.128842317del" "" "likely pathogenic" "" "0000643264" "0" "70" "7" "128482628" "128482628" "subst" "0" "03571" "FLNC_000480" "g.128482628G>T" "" "{PMID:Janin 2017:28436997}" "" "" "" "Germline" "" "" "0" "" "" "g.128842574G>T" "" "likely pathogenic" "" "0000643265" "0" "50" "7" "128482738" "128482738" "subst" "0" "03571" "FLNC_000481" "g.128482738G>T" "" "{PMID:Jaafar 2016:27574918}" "" "" "" "Germline" "" "" "0" "" "" "g.128842684G>T" "" "VUS" "" "0000643266" "0" "50" "7" "128482883" "128482883" "subst" "1.6267E-5" "03571" "FLNC_000054" "g.128482883G>A" "" "{PMID:Janin 2017:28436997}" "" "" "" "Germline" "" "" "0" "" "" "g.128842829G>A" "" "VUS" "" "0000643267" "0" "50" "7" "128482908" "128482908" "subst" "2.03231E-5" "03571" "FLNC_000483" "g.128482908T>C" "" "{PMID:Cirino 2017:2903040}" "" "" "" "Germline" "" "" "0" "" "" "g.128842854T>C" "" "VUS" "" "0000643268" "0" "50" "7" "128483319" "128483319" "subst" "4.20306E-6" "03571" "FLNC_000484" "g.128483319C>T" "" "{PMID:Cui 2018:30411535}" "" "" "" "Germline" "" "" "0" "" "" "g.128843265C>T" "" "VUS" "" "0000643269" "0" "50" "7" "128483557" "128483557" "subst" "8.14332E-6" "03571" "FLNC_000485" "g.128483557G>A" "" "{PMID:Cui 2018:30411535}" "" "" "" "Germline" "" "" "0" "" "" "g.128843503G>A" "" "VUS" "" "0000643270" "0" "70" "7" "128483604" "128483604" "subst" "0" "03571" "FLNC_000486" "g.128483604C>G" "" "{PMID:Ader 2019:31245841}" "" "" "" "Germline" "" "" "0" "" "" "g.128843550C>G" "" "likely pathogenic" "" "0000643271" "0" "50" "7" "128483846" "128483846" "subst" "0" "03571" "FLNC_000487" "g.128483846A>G" "" "{PMID:Cui 2018:30411535}" "" "" "" "Germline" "" "" "0" "" "" "g.128843792A>G" "" "VUS" "" "0000643272" "0" "70" "7" "128483876" "128483876" "subst" "0" "03571" "FLNC_000229" "g.128483876T>A" "" "LOVD" "" "" "" "Germline" "" "" "0" "" "" "g.128843822T>A" "" "likely pathogenic" "" "0000643273" "0" "70" "7" "128483926" "128483926" "del" "0" "03571" "FLNC_000488" "g.128483926del" "" "{PMID:Ortiz-Genga 2016:27908349}" "" "2888delC" "" "Germline" "" "" "0" "" "" "g.128843872del" "" "likely pathogenic" "" "0000643274" "0" "70" "7" "128484057" "128484057" "subst" "0" "03571" "FLNC_000489" "g.128484057G>T" "" "{PMID:Begay 2018:30067491}" "" "" "" "Germline" "" "" "0" "" "" "g.128844003G>T" "" "likely pathogenic" "" "0000643275" "0" "70" "7" "128484099" "128484099" "subst" "0" "03571" "FLNC_000490" "g.128484099C>T" "" "{PMID:Reinstein 2016:27601210}" "" "" "" "Germline" "" "" "0" "" "" "g.128844045C>T" "" "likely pathogenic" "" "0000643276" "0" "70" "7" "128484308" "128484308" "del" "0" "03571" "FLNC_000235" "g.128484308del" "" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.128844254del" "" "likely pathogenic" "" "0000643277" "0" "70" "7" "128484198" "128484198" "subst" "0" "03571" "FLNC_000491" "g.128484198C>T" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline" "" "" "0" "" "" "g.128844144C>T" "" "likely pathogenic" "" "0000643278" "0" "70" "7" "128484829" "128484829" "subst" "0" "03571" "FLNC_000494" "g.128484829G>T" "" "{PMID:Janin 2017:28436997}" "" "" "" "Germline" "" "" "0" "" "" "g.128844775G>T" "" "likely pathogenic" "" "0000643279" "0" "70" "7" "128484899" "128484921" "dup" "0" "03571" "FLNC_000495" "g.128484899_128484921dup" "" "{PMID:Ortiz-Genga 2016:27908349}" "" "3380_3402dup23" "" "Germline" "" "" "0" "" "" "g.128844845_128844867dup" "" "likely pathogenic" "" "0000643280" "0" "50" "7" "128485100" "128485100" "subst" "4.06461E-6" "03571" "FLNC_000498" "g.128485100C>T" "" "{PMID:Ader 2019:31245841}" "" "" "" "Germline" "" "" "0" "" "" "g.128845046C>T" "" "VUS" "" "0000643281" "0" "70" "7" "128485111" "128485111" "dup" "0" "03571" "FLNC_000499" "g.128485111dup" "" "{PMID:Ader 2019:31245841}" "" "" "" "Germline" "" "" "0" "" "" "g.128845057dup" "" "likely pathogenic" "" "0000643282" "0" "50" "7" "128485142" "128485142" "subst" "0.000101592" "03571" "FLNC_000500" "g.128485142C>T" "" "{PMID:Cui 2018:30411535}" "" "" "" "Germline" "" "" "0" "" "" "g.128845088C>T" "" "VUS" "" "0000643283" "0" "50" "7" "128485066" "128485067" "delins" "0" "03571" "FLNC_000497" "g.128485066_128485067delinsCT" "" "{PMID:Kiselev 2018:29858533}" "" "" "" "Germline" "" "" "0" "" "" "g.128845012_128845013delinsCT" "" "VUS" "" "0000643284" "0" "70" "7" "128485076" "128485076" "subst" "0" "03571" "FLNC_000006" "g.128485076C>T" "" "{PMID:Ghaoui 2015:26436962}" "" "" "" "Germline" "" "" "0" "" "" "g.128845022C>T" "" "likely pathogenic" "" "0000643285" "0" "70" "7" "128485165" "128485165" "subst" "0" "03571" "FLNC_000501" "g.128485165T>A" "" "Avila-Smirnow 2010, HG online" "" "" "" "Germline" "" "" "0" "" "" "g.128845111T>A" "" "likely pathogenic" "" "0000643286" "0" "50" "7" "128485225" "128485225" "subst" "3.2711E-5" "03571" "FLNC_000502" "g.128485225C>T" "" "{PMID:Yu 2017:28403181}" "" "" "" "Germline" "" "" "0" "" "" "g.128845171C>T" "" "VUS" "" "0000643287" "0" "50" "7" "128485240" "128485240" "subst" "0.00592992" "03571" "FLNC_000067" "g.128485240C>T" "" "{PMID:Weihl 2015:25617006}" "" "" "" "Germline" "" "" "0" "" "" "g.128845186C>T" "" "VUS" "" "0000643288" "0" "70" "7" "128486043" "128486043" "subst" "0" "03571" "FLNC_000503" "g.128486043G>A" "" "{PMID:Ortiz-Genga 2016:27908349}" "" "" "" "Germline" "" "" "0" "" "" "g.128845989G>A" "" "likely pathogenic" "" "0000643289" "0" "70" "7" "128486043" "128486043" "subst" "1.22304E-5" "03571" "FLNC_000504" "g.128486043G>C" "" "{PMID:Deo 2014:25633252}" "" "" "" "Germline" "" "" "0" "" "" "g.128845989G>C" "" "likely pathogenic" "" "0000643290" "0" "70" "7" "128486091" "128486091" "dup" "0" "03571" "FLNC_000505" "g.128486091dup" "" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.128846037dup" "" "likely pathogenic" "" "0000643291" "0" "70" "7" "128486353" "128486353" "subst" "0" "03571" "FLNC_000506" "g.128486353A>T" "" "{PMID:Ortiz-Genga 2016:27908349}" "" "" "" "Germline" "" "" "0" "" "" "g.128846299A>T" "" "likely pathogenic" "" "0000643292" "0" "70" "7" "128486450" "128486450" "subst" "0" "03571" "FLNC_000508" "g.128486450C>T" "" "{PMID:Janin 2017:28436997}" "" "" "" "Germline" "" "" "0" "" "" "g.128846396C>T" "" "likely pathogenic" "" "0000643293" "0" "70" "7" "128486496" "128486496" "dup" "0" "03571" "FLNC_000510" "g.128486496dup" "" "{PMID:Cuenca 2016:26899768}" "" "4106dupA" "" "Germline" "" "" "0" "" "" "g.128846442dup" "" "likely pathogenic" "" "0000643294" "0" "70" "7" "128486518" "128486518" "del" "0" "03571" "FLNC_000512" "g.128486518del" "" "{PMID:Ortiz-Genga 2016:27908349}" "" "4127+1delG" "" "Germline" "" "" "0" "" "" "g.128846464del" "" "likely pathogenic" "" "0000643295" "0" "70" "7" "128486942" "128486942" "subst" "4.06517E-6" "03571" "FLNC_000513" "g.128486942G>T" "" "{PMID:Ader 2019:31245841}" "" "" "" "Germline" "" "" "0" "" "" "g.128846888G>T" "" "likely pathogenic" "" "0000643296" "0" "70" "7" "128488123" "128488123" "subst" "0" "03571" "FLNC_000514" "g.128488123G>T" "" "{PMID:Ortiz-Genga 2016:27908349}" "" "" "" "Germline" "" "" "0" "" "" "g.128848069G>T" "" "likely pathogenic" "" "0000643297" "0" "70" "7" "128488649" "128488649" "subst" "0" "03571" "FLNC_000515" "g.128488649G>A" "" "{PMID:Valdes-Mas2014:25351925}" "" "" "" "Germline" "" "" "0" "" "" "g.128848595G>A" "" "likely pathogenic" "" "0000643298" "0" "50" "7" "128488734" "128488734" "subst" "0.0745734" "03571" "FLNC_000087" "g.128488734G>A" "" "{PMID:Esslinger 2017:28296976}" "" "" "" "Germline" "" "" "0" "" "" "g.128848680G>A" "" "VUS" "" "0000643299" "0" "70" "7" "128488752" "128488752" "subst" "0" "03571" "FLNC_000518" "g.128488752T>A" "" "{PMID:Augusto 2019:31317183}" "" "" "" "Germline" "" "" "0" "" "" "g.128848698T>A" "" "likely pathogenic" "" "0000643300" "0" "50" "7" "128488670" "128488670" "subst" "4.06977E-6" "03571" "FLNC_000516" "g.128488670G>A" "" "Sanoja, Li, Fricker, Kingsmore, & Wallace, 2018" "" "" "" "Germline" "" "" "0" "" "" "g.128848616G>A" "" "VUS" "" "0000643301" "0" "50" "7" "128488774" "128488774" "subst" "0" "03571" "FLNC_000259" "g.128488774G>T" "" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.128848720G>T" "" "VUS" "" "0000643302" "0" "50" "7" "128488904" "128488904" "subst" "4.07359E-6" "03571" "FLNC_000519" "g.128488904A>G" "" "{PMID:Gomez 2017:28356264}" "" "" "" "Germline" "" "" "0" "" "" "g.128848850A>G" "" "VUS" "" "0000643303" "0" "70" "7" "128489037" "128489037" "del" "0" "03571" "FLNC_000520" "g.128489037del" "" "{PMID:Ortiz-Genga 2016:27908349}" "" "4927+1delG" "" "Germline" "" "" "0" "" "" "g.128848983del" "" "likely pathogenic" "" "0000643304" "0" "70" "7" "128488980" "128488980" "subst" "0" "03571" "FLNC_000007" "g.128488980C>T" "" "{PMID:Brodehl 2016:26666891}" "" "" "" "Germline" "" "" "0" "" "" "g.128848926C>T" "" "likely pathogenic" "" "0000643305" "0" "50" "7" "128489038" "128489038" "subst" "0" "03571" "FLNC_000521" "g.128489038T>A" "" "{PMID:Zenagui 2018:29792937}" "" "" "" "Germline" "" "" "0" "" "" "g.128848984T>A" "" "VUS" "" "0000643306" "0" "70" "7" "128489402" "128489402" "subst" "0" "03571" "FLNC_000267" "g.128489402C>T" "" "LOVD" "" "" "" "Germline" "" "" "0" "" "" "g.128849348C>T" "" "likely pathogenic" "" "0000643307" "0" "50" "7" "128489469" "128489469" "subst" "4.0621E-6" "03571" "FLNC_000396" "g.128489469C>A" "" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.128849415C>A" "" "VUS" "" "0000643308" "0" "50" "7" "128489475" "128489475" "subst" "2.84375E-5" "03571" "FLNC_000523" "g.128489475C>T" "" "{PMID:Gomez 2017:28356264}" "" "" "" "Germline" "" "" "0" "" "" "g.128849421C>T" "" "VUS" "" "0000643309" "0" "50" "7" "128489501" "128489501" "subst" "0" "03571" "FLNC_000524" "g.128489501C>T" "" "{PMID:Gomez 2017:28356264}" "" "" "" "Germline" "" "" "0" "" "" "g.128849447C>T" "" "VUS" "" "0000643310" "0" "50" "7" "128489558" "128489558" "subst" "0" "03571" "FLNC_000525" "g.128489558C>T" "" "{PMID:Cui 2018:30411535}" "" "" "" "Germline" "" "" "0" "" "" "g.128849504C>T" "" "VUS" "" "0000643311" "0" "50" "7" "128489565" "128489565" "subst" "8.12407E-6" "03571" "FLNC_000526" "g.128489565C>T" "" "{PMID:Cui 2018:30411535}" "" "" "" "Germline" "" "" "0" "" "" "g.128849511C>T" "" "VUS" "" "0000643312" "0" "50" "7" "128489430" "128489430" "subst" "0" "03571" "FLNC_000522" "g.128489430T>C" "" "{PMID:Ader 2019:31245841}" "" "" "" "Germline" "" "" "0" "" "" "g.128849376T>C" "" "VUS" "" "0000643313" "0" "70" "7" "128489504" "128489504" "subst" "4.4674E-5" "03571" "FLNC_000269" "g.128489504G>A" "" "{PMID:Zhang 2018:30539912}" "" "" "" "Germline" "" "" "0" "" "" "g.128849450G>A" "" "likely pathogenic" "" "0000643314" "0" "70" "7" "128489593" "128489593" "del" "0" "03571" "FLNC_000527" "g.128489593del" "" "{PMID:Guergueltcheva 2011:22131542}" "" "5160delC" "" "Germline" "" "" "0" "" "" "g.128849539del" "" "likely pathogenic" "" "0000643315" "0" "70" "7" "128489598" "128489598" "del" "0" "03571" "FLNC_000528" "g.128489598del" "" "{PMID:Rossi 2017:29073160}" "" "5165delG" "" "Germline" "" "" "0" "" "" "g.128849544del" "" "likely pathogenic" "" "0000643316" "0" "50" "7" "128490108" "128490108" "subst" "0.000185447" "03571" "FLNC_000530" "g.128490108G>A" "" "{PMID:Yu 2017:28403181}" "" "" "" "Germline" "" "" "0" "" "" "g.128850054G>A" "" "VUS" "" "0000643317" "0" "70" "7" "128490537" "128490537" "subst" "0" "03571" "FLNC_000531" "g.128490537G>T" "" "{PMID:Ortiz-Genga 2016:27908349}" "" "" "" "Germline" "" "" "0" "" "" "g.128850483G>T" "" "likely pathogenic" "" "0000643318" "0" "70" "7" "128490978" "128490978" "subst" "0" "03571" "FLNC_000532" "g.128490978T>A" "" "{PMID:Chanavat 2016:26688388}" "" "" "" "Germline" "" "" "0" "" "" "g.128850924T>A" "" "likely pathogenic" "" "0000643319" "0" "70" "7" "128490998" "128490998" "subst" "0" "03571" "FLNC_000533" "g.128490998G>C" "" "{PMID:Ortiz-Genga 2016:27908349}" "" "" "" "Germline" "" "" "0" "" "" "g.128850944G>C" "" "likely pathogenic" "" "0000643320" "0" "70" "7" "128491512" "128491512" "del" "0" "03571" "FLNC_000534" "g.128491512del" "" "{PMID:Begay 2018:30067491}" "" "5672delG" "" "Germline" "" "" "0" "" "" "g.128851458del" "" "likely pathogenic" "" "0000643321" "0" "50" "7" "128491631" "128491631" "subst" "4.46726E-5" "03571" "FLNC_000106" "g.128491631C>T" "" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.128851577C>T" "" "VUS" "" "0000643322" "0" "50" "7" "128491679" "128491681" "dup" "0" "03571" "FLNC_000535" "g.128491679_128491681dup" "" "{PMID:Ader 2019:31245841}" "" "" "" "Germline" "" "" "0" "" "" "g.128851625_128851627dup" "" "VUS" "" "0000643323" "0" "50" "7" "128492690" "128492690" "subst" "2.8516E-5" "03571" "FLNC_000283" "g.128492690C>T" "" "{PMID:Cui 2018:30411535}" "" "" "" "Germline" "" "" "0" "" "" "g.128852636C>T" "" "VUS" "" "0000643324" "0" "50" "7" "128492756" "128492756" "subst" "0.00021168" "03571" "FLNC_000412" "g.128492756C>T" "" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.128852702C>T" "" "VUS" "" "0000643325" "0" "50" "7" "128492798" "128492798" "subst" "1.62668E-5" "03571" "FLNC_000536" "g.128492798G>A" "" "{PMID:Jaafar 2016:27574918}" "" "" "" "Germline" "" "" "0" "" "" "g.128852744G>A" "" "VUS" "" "0000643326" "0" "50" "7" "128492909" "128492909" "subst" "0" "03571" "FLNC_000537" "g.128492909G>A" "" "{PMID:Ader 2019:31245841}" "" "" "" "Germline" "" "" "0" "" "" "g.128852855G>A" "" "VUS" "" "0000643327" "0" "50" "7" "128492930" "128492930" "subst" "2.84375E-5" "03571" "FLNC_000539" "g.128492930G>A" "" "{PMID:Chanavat 2016:26688388}" "" "" "" "Germline" "" "" "0" "" "" "g.128852876G>A" "" "VUS" "" "0000643328" "0" "50" "7" "128492977" "128492977" "subst" "0" "03571" "FLNC_000110" "g.128492977G>C" "" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.128852923G>C" "" "VUS" "" "0000643329" "0" "70" "7" "128492992" "128492992" "subst" "4.06402E-6" "03571" "FLNC_000541" "g.128492992G>A" "" "{PMID:Ader 2019:31245841}" "" "" "" "Germline" "" "" "0" "" "" "g.128852938G>A" "" "likely pathogenic" "" "0000643330" "0" "50" "7" "128493011" "128493011" "subst" "4.47307E-5" "03571" "FLNC_000290" "g.128493011G>A" "" "{PMID:Chanavat 2016:26688388}" "" "" "" "Germline" "" "" "0" "" "" "g.128852957G>A" "" "VUS" "" "0000643331" "0" "50" "7" "128493082" "128493082" "subst" "0" "03571" "FLNC_000113" "g.128493082G>A" "" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.128853028G>A" "" "VUS" "" "0000643332" "0" "70" "7" "128493085" "128493085" "subst" "0" "03571" "FLNC_000542" "g.128493085G>A" "" "{PMID:Ortiz-Genga 2016:27908349}" "" "" "" "Germline" "" "" "0" "" "" "g.128853031G>A" "" "likely pathogenic" "" "0000643333" "0" "70" "7" "128493545" "128493545" "del" "0" "03571" "FLNC_000543" "g.128493545del" "" "{PMID:Cuenca 2016:26899768}" "" "6231delT" "" "Germline" "" "" "0" "" "" "g.128853491del" "" "likely pathogenic" "" "0000643334" "0" "70" "7" "128493554" "128493573" "del" "0" "03571" "FLNC_000544" "g.128493554_128493573del" "" "{PMID:Ortiz-Genga 2016:27908349}" "" "" "" "Germline" "" "" "0" "" "" "g.128853500_128853519del" "" "likely pathogenic" "" "0000643335" "0" "70" "7" "128493569" "128493570" "del" "0" "03571" "FLNC_000545" "g.128493569_128493570del" "" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.128853515_128853516del" "" "likely pathogenic" "" "0000643336" "0" "70" "7" "128493804" "128493804" "subst" "0" "03571" "FLNC_000416" "g.128493804C>T" "" "{PMID:Cui 2018:30411535}" "" "" "" "Germline" "" "" "0" "" "" "g.128853750C>T" "" "likely pathogenic" "" "0000643337" "0" "70" "7" "128493805" "128493805" "subst" "0" "03571" "FLNC_000417" "g.128493805G>A" "" "{PMID:Valdes-Mas2014:25351925}" "" "" "" "Germline" "" "" "0" "" "" "g.128853751G>A" "" "likely pathogenic" "" "0000643338" "0" "70" "7" "128493826" "128493826" "subst" "2.03146E-5" "03571" "FLNC_000546" "g.128493826G>A" "" "{PMID:Gomez 2017:28356264}" "" "" "" "Germline" "" "" "0" "" "" "g.128853772G>A" "" "likely pathogenic" "" "0000643339" "0" "50" "7" "128493858" "128493858" "subst" "0" "03571" "FLNC_000294" "g.128493858G>A" "" "{PMID:Valdes-Mas2014:25351925}" "" "" "" "Germline" "" "" "0" "" "" "g.128853804G>A" "" "VUS" "" "0000643340" "0" "70" "7" "128493885" "128493885" "subst" "0" "03571" "FLNC_000008" "g.128493885A>T" "" "{PMID:Brodehl 2016:26666891}" "" "" "" "Germline" "" "" "0" "" "" "g.128853831A>T" "" "likely pathogenic" "" "0000643341" "0" "50" "7" "128494061" "128494061" "subst" "0" "03571" "FLNC_000547" "g.128494061G>A" "" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.128854007G>A" "" "VUS" "" "0000643342" "0" "50" "7" "128494132" "128494132" "subst" "0" "03571" "FLNC_000549" "g.128494132C>T" "" "{PMID:Alejandra Restrepo-Cordoba 2017:28138913}" "" "" "" "Germline" "" "" "0" "" "" "g.128854078C>T" "" "VUS" "" "0000643343" "0" "70" "7" "128494157" "128494165" "del" "0" "03571" "FLNC_000117" "g.128494157_128494165del" "" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.128854103_128854111del" "" "likely pathogenic" "" "0000643344" "0" "50" "7" "128494081" "128494081" "subst" "3.28372E-5" "03571" "FLNC_000418" "g.128494081C>T" "" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.128854027C>T" "" "VUS" "" "0000643345" "0" "50" "7" "128494102" "128494102" "subst" "8.1817E-6" "03571" "FLNC_000295" "g.128494102C>T" "" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.128854048C>T" "" "VUS" "" "0000643346" "0" "50" "7" "128494069" "128494069" "subst" "4.08797E-6" "03571" "FLNC_000548" "g.128494069C>T" "" "{PMID:Cerino 2017:28256728}" "" "" "" "Germline" "" "" "0" "" "" "g.128854015C>T" "" "VUS" "" "0000643347" "0" "50" "7" "128494103" "128494103" "subst" "0" "03571" "FLNC_000296" "g.128494103G>C" "" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.128854049G>C" "" "VUS" "" "0000643348" "0" "50" "7" "128494256" "128494256" "subst" "0" "03571" "FLNC_000298" "g.128494256C>T" "" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.128854202C>T" "" "VUS" "" "0000643349" "0" "50" "7" "128494529" "128494529" "subst" "0" "03571" "FLNC_000424" "g.128494529G>A" "" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.128854475G>A" "" "VUS" "" "0000643350" "0" "50" "7" "128494599" "128494599" "subst" "0" "03571" "FLNC_000303" "g.128494599C>A" "" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.128854545C>A" "" "VUS" "" "0000643351" "0" "70" "7" "128494603" "128494606" "dup" "0" "03571" "FLNC_000304" "g.128494603_128494606dup" "" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.128854549_128854552dup" "" "likely pathogenic" "" "0000643352" "0" "50" "7" "128494616" "128494616" "subst" "0" "03571" "FLNC_000125" "g.128494616C>T" "" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.128854562C>T" "" "VUS" "" "0000643353" "0" "70" "7" "128494631" "128494631" "subst" "0" "03571" "FLNC_000551" "g.128494631C>T" "" "{PMID:Gomez 2017:28356264}" "" "" "" "Germline" "" "" "0" "" "" "g.128854577C>T" "" "likely pathogenic" "" "0000643354" "0" "50" "7" "128494634" "128494634" "subst" "0" "03571" "FLNC_000426" "g.128494634G>A" "" "{PMID:Ader 2019:31245841}" "" "" "" "Germline" "" "" "0" "" "" "g.128854580G>A" "" "VUS" "" "0000643355" "0" "70" "7" "128494640" "128494640" "subst" "0" "03571" "FLNC_000553" "g.128494640C>G" "" "{PMID:Gomez 2017:28356264}" "" "" "" "Germline" "" "" "0" "" "" "g.128854586C>G" "" "likely pathogenic" "" "0000643356" "0" "70" "7" "128494646" "128494646" "subst" "0" "03571" "FLNC_000427" "g.128494646C>T" "" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.128854592C>T" "" "likely pathogenic" "" "0000643357" "0" "70" "7" "128494682" "128494682" "subst" "0" "03571" "FLNC_000555" "g.128494682C>A" "" "{PMID:Valdes-Mas2014:25351925}" "" "" "" "Germline" "" "" "0" "" "" "g.128854628C>A" "" "likely pathogenic" "" "0000643358" "0" "50" "7" "128494691" "128494691" "subst" "0" "03571" "FLNC_000556" "g.128494691C>T" "" "{PMID:Gomez 2017:28356264}" "" "" "" "Germline" "" "" "0" "" "" "g.128854637C>T" "" "VUS" "" "0000643359" "0" "70" "7" "128494715" "128494715" "subst" "4.1138E-6" "03571" "FLNC_000558" "g.128494715C>T" "" "{PMID:Ortiz-Genga 2016:27908349}" "" "" "" "Germline" "" "" "0" "" "" "g.128854661C>T" "" "likely pathogenic" "" "0000643360" "0" "70" "7" "128494728" "128494728" "dup" "0" "03571" "FLNC_000559" "g.128494728dup" "" "{PMID:Janin 2017:28436997}" "" "6989dupG" "" "Germline" "" "" "0" "" "" "g.128854674dup" "" "likely pathogenic" "" "0000643361" "0" "70" "7" "128494628" "128494628" "subst" "0" "03571" "FLNC_000550" "g.128494628G>A" "" "{PMID:Tucker 2017:29212899}" "" "" "" "Germline" "" "" "0" "" "" "g.128854574G>A" "" "likely pathogenic" "" "0000643362" "0" "70" "7" "128494632" "128494632" "subst" "0" "03571" "FLNC_000552" "g.128494632C>T" "" "{PMID:Schubert 2018:30260051}" "" "" "" "Germline" "" "" "0" "" "" "g.128854578C>T" "" "likely pathogenic" "" "0000643363" "0" "50" "7" "128494641" "128494641" "subst" "0" "03571" "FLNC_000554" "g.128494641C>T" "" "{PMID:Roldan-Sevilla 2019:30919686}" "" "" "" "Germline" "" "" "0" "" "" "g.128854587C>T" "" "VUS" "" "0000643364" "0" "50" "7" "128494547" "128494547" "subst" "0.000710886" "03571" "FLNC_000121" "g.128494547G>A" "" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.128854493G>A" "" "VUS" "" "0000643365" "0" "50" "7" "128494563" "128494563" "subst" "0" "03571" "FLNC_000122" "g.128494563G>T" "" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.128854509G>T" "" "VUS" "" "0000643366" "0" "50" "7" "128494861" "128494861" "subst" "1.21893E-5" "03571" "FLNC_000429" "g.128494861G>A" "" "{PMID:Cui 2018:30411535}" "" "" "" "Germline" "" "" "0" "" "" "g.128854807G>A" "" "VUS" "" "0000643367" "0" "50" "7" "128494907" "128494907" "subst" "0" "03571" "FLNC_000561" "g.128494907T>C" "" "{PMID:Ader 2019:31245841}" "" "" "" "Germline" "" "" "0" "" "" "g.128854853T>C" "" "VUS" "" "0000643368" "0" "70" "7" "128494949" "128494950" "del" "0" "03571" "FLNC_000310" "g.128494949_128494950del" "" "{PMID:Ader 2019:31245841}" "" "" "" "Germline" "" "" "0" "" "" "g.128854895_128854896del" "" "likely pathogenic" "" "0000643369" "0" "70" "7" "128494954" "128494954" "subst" "0" "03571" "FLNC_000562" "g.128494954G>C" "" "{PMID:Ader 2019:31245841}" "" "" "" "Germline" "" "" "0" "" "" "g.128854900G>C" "" "likely pathogenic" "" "0000643370" "0" "50" "7" "128494954" "128494954" "subst" "0" "03571" "FLNC_000563" "g.128494954G>T" "" "{PMID:Gomez 2017:28356264}" "" "" "" "Germline" "" "" "0" "" "" "g.128854900G>T" "" "VUS" "" "0000643371" "0" "50" "7" "128494865" "128494865" "subst" "0" "03571" "FLNC_000560" "g.128494865G>A" "" "{PMID:Kosmicki 2017:28191890}" "" "" "" "Germline" "" "" "0" "" "" "g.128854811G>A" "" "VUS" "" "0000643372" "0" "50" "7" "128494922" "128494922" "subst" "0.00173517" "03571" "FLNC_000129" "g.128494922G>A" "" "{PMID:Weihl 2015:25617006}" "" "" "" "Germline" "" "" "0" "" "" "g.128854868G>A" "" "VUS" "" "0000643373" "0" "50" "7" "128494954" "128494954" "subst" "4.46955E-5" "03571" "FLNC_000564" "g.128494954G>A" "" "{PMID:Chen 2019:31421687}" "" "" "" "Germline" "" "" "0" "" "" "g.128854900G>A" "" "VUS" "" "0000643374" "0" "50" "7" "128495345" "128495345" "subst" "2.43797E-5" "03571" "FLNC_000565" "g.128495345C>T" "" "{PMID:Ader 2019:31245841}" "" "" "" "Germline" "" "" "0" "" "" "g.128855291C>T" "" "VUS" "" "0000643375" "0" "50" "7" "128495367" "128495367" "subst" "0" "03571" "FLNC_000566" "g.128495367A>C" "" "{PMID:Ader 2019:31245841}" "" "" "" "Germline" "" "" "0" "" "" "g.128855313A>C" "" "VUS" "" "0000643376" "0" "70" "7" "128495369" "128495369" "subst" "0" "03571" "FLNC_000567" "g.128495369G>A" "" "{PMID:Ortiz-Genga 2016:27908349}" "" "" "" "Germline" "" "" "0" "" "" "g.128855315G>A" "" "likely pathogenic" "" "0000643377" "0" "70" "7" "128495294" "128495294" "subst" "0" "03571" "FLNC_000433" "g.128495294C>T" "" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.128855240C>T" "" "likely pathogenic" "" "0000643378" "0" "50" "7" "128495258" "128495258" "subst" "0" "03571" "FLNC_000432" "g.128495258T>G" "" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.128855204T>G" "" "VUS" "" "0000643379" "0" "50" "7" "128496609" "128496609" "subst" "9.86031E-5" "03571" "FLNC_000314" "g.128496609C>T" "" "{PMID:Valdes-Mas2014:25351925}" "" "" "" "Germline" "" "" "0" "" "" "g.128856555C>T" "" "VUS" "" "0000643380" "0" "50" "7" "128496576" "128496576" "subst" "0.000181493" "03571" "FLNC_000568" "g.128496576C>T" "" "{PMID:Tasca 2012:22806379}" "" "" "" "Germline" "" "" "0" "" "" "g.128856522C>T" "" "VUS" "" "0000643381" "0" "50" "7" "128496864" "128496864" "subst" "3.24884E-5" "03571" "FLNC_000319" "g.128496864G>A" "" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.128856810G>A" "" "VUS" "" "0000643382" "0" "70" "7" "128496898" "128496898" "subst" "2.03092E-5" "03571" "FLNC_000570" "g.128496898G>A" "" "{PMID:Ader 2019:31245841}" "" "" "" "Germline" "" "" "0" "" "" "g.128856844G>A" "" "likely pathogenic" "" "0000643383" "0" "50" "7" "128496928" "128496928" "subst" "0" "03571" "FLNC_000571" "g.128496928C>T" "" "{PMID:Cui 2018:30411535}" "" "" "" "Germline" "" "" "0" "" "" "g.128856874C>T" "" "VUS" "" "0000643384" "0" "70" "7" "128496950" "128496962" "del" "0" "03571" "FLNC_000572" "g.128496950_128496962del" "" "{PMID:Mangum & Ferns, 2019:30118858}" "" "7536_7548del13" "" "Germline" "" "" "0" "" "" "g.128856896_128856908del" "" "likely pathogenic" "" "0000643385" "0" "70" "7" "128497255" "128497255" "subst" "0" "03571" "FLNC_000573" "g.128497255C>T" "" "{PMID:Ader 2019:31245841}" "" "" "" "Germline" "" "" "0" "" "" "g.128857201C>T" "" "likely pathogenic" "" "0000643386" "0" "50" "7" "128497262" "128497262" "subst" "8.13464E-6" "03571" "FLNC_000439" "g.128497262A>G" "" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.128857208A>G" "" "VUS" "" "0000643387" "0" "70" "7" "128497275" "128497275" "subst" "0" "03571" "FLNC_000574" "g.128497275T>A" "" "{PMID:Ader 2019:31245841}" "" "" "" "Germline" "" "" "0" "" "" "g.128857221T>A" "" "likely pathogenic" "" "0000643388" "0" "70" "7" "128497298" "128497298" "subst" "0" "03571" "FLNC_000005" "g.128497298A>G" "" "{PMID:Schubert 2018:30260051}" "" "" "" "Germline" "" "" "0" "" "" "g.128857244A>G" "" "likely pathogenic" "" "0000643389" "0" "70" "7" "128497334" "128497334" "subst" "0" "03571" "FLNC_000160" "g.128497334T>A" "" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.128857280T>A" "" "likely pathogenic" "" "0000643390" "0" "50" "7" "128498062" "128498062" "subst" "0" "03571" "FLNC_000575" "g.128498062G>C" "" "{PMID:Chanavat 2016:26688388}" "" "" "" "Germline" "" "" "0" "" "" "g.128858008G>C" "" "VUS" "" "0000643391" "0" "50" "7" "128498134" "128498134" "subst" "0" "03571" "ATP6V1F_000001" "g.128498134C>T" "" "Verdonschot/Vanhoutte 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.128858080C>T" "" "VUS" "" "0000643392" "0" "50" "7" "128498208" "128498216" "del" "0" "03571" "FLNC_000576" "g.128498208_128498216del" "" "{PMID:Ader 2019:31245841}" "" "" "" "Germline" "" "" "0" "" "" "g.128858154_128858162del" "" "VUS" "" "0000643393" "0" "70" "7" "128498506" "128498506" "del" "0" "03571" "FLNC_000577" "g.128498506del" "" "{PMID:Ortiz-Genga 2016:27908349}" "" "8107delG" "" "Germline" "" "" "0" "" "" "g.128858452del" "" "likely pathogenic" "" "0000643394" "0" "70" "7" "128498529" "128498529" "subst" "0" "03571" "FLNC_000001" "g.128498529G>A" "" "{PMID:Vorgerd 2005:15929027}" "" "" "" "Germline" "" "" "0" "" "" "g.128858475G>A" "" "likely pathogenic" "" "0000643395" "0" "50" "7" "128470932" "128470932" "subst" "0" "03571" "FLNC_000446" "g.128470932C>T" "" "{PMID:Janssens 2015:26555887}" "" "" "" "Germline" "" "" "0" "" "" "g.128830878C>T" "" "VUS" "" "0000643396" "0" "50" "7" "128477808" "128477808" "subst" "0" "03571" "FLNC_000458" "g.128477808A>T" "" "{PMID:Janssens 2015:26555887}" "" "" "" "Germline" "" "" "0" "" "" "g.128837754A>T" "" "VUS" "" "0000643397" "0" "50" "7" "128478414" "128478414" "subst" "4.06118E-6" "03571" "FLNC_000463" "g.128478414C>T" "" "{PMID:Aloraifi 2015:26094658}" "" "" "" "Germline" "" "" "0" "" "" "g.128838360C>T" "" "VUS" "" "0000643398" "0" "50" "7" "128478444" "128478444" "subst" "0" "03571" "FLNC_000464" "g.128478444G>T" "" "{PMID:Takata 2018:29346770}" "" "" "" "Germline" "" "" "0" "" "" "g.128838390G>T" "" "VUS" "" "0000643399" "0" "50" "7" "128480623" "128480623" "subst" "4.06118E-6" "03571" "FLNC_000468" "g.128480623A>G" "" "{PMID:Janssens 2015:26555887}" "" "" "" "Germline" "" "" "0" "" "" "g.128840569A>G" "" "VUS" "" "0000643400" "0" "50" "7" "128482291" "128482291" "subst" "0.000321826" "03571" "FLNC_000043" "g.128482291G>A" "" "{PMID:Janssens 2015:26555887}" "" "" "" "Germline" "" "" "0" "" "" "g.128842237G>A" "" "VUS" "" "0000643401" "0" "50" "7" "128482874" "128482874" "subst" "0" "03571" "FLNC_000482" "g.128482874G>A" "" "{PMID:Janssens 2015:26555887}" "" "" "" "Germline" "" "" "0" "" "" "g.128842820G>A" "" "VUS" "" "0000643402" "0" "50" "7" "128482949" "128482949" "subst" "2.03219E-5" "03571" "FLNC_000367" "g.128482949G>A" "" "{PMID:Janssens 2015:26555887}" "" "" "" "Germline" "" "" "0" "" "" "g.128842895G>A" "" "VUS" "" "0000643403" "0" "50" "7" "128484220" "128484220" "del" "0" "03571" "FLNC_000492" "g.128484220del" "" "{PMID:Kosmicki 2017:28191890}" "" "3092delC" "" "Germline" "" "" "0" "" "" "g.128844166del" "" "VUS" "" "0000643404" "0" "50" "7" "128484267" "128484267" "subst" "0" "03571" "FLNC_000493" "g.128484267G>C" "" "{PMID:Janssens 2015:26555887}" "" "" "" "Germline" "" "" "0" "" "" "g.128844213G>C" "" "VUS" "" "0000643405" "0" "50" "7" "128485007" "128485007" "subst" "0" "03571" "FLNC_000496" "g.128485007C>G" "" "{PMID:Janssens 2015:26555887}" "" "" "" "Germline" "" "" "0" "" "" "g.128844953C>G" "" "VUS" "" "0000643406" "0" "50" "7" "128486393" "128486393" "subst" "3.66262E-5" "03571" "FLNC_000507" "g.128486393G>A" "" "{PMID:Janssens 2015:26555887}" "" "" "" "Germline" "" "" "0" "" "" "g.128846339G>A" "" "VUS" "" "0000643407" "0" "50" "7" "128486482" "128486482" "subst" "3.34325E-5" "03571" "FLNC_000509" "g.128486482G>C" "" "{PMID:Janssens 2015:26555887}" "" "" "" "Germline" "" "" "0" "" "" "g.128846428G>C" "" "VUS" "" "0000643408" "0" "50" "7" "128486499" "128486499" "subst" "8.43277E-6" "03571" "FLNC_000511" "g.128486499G>A" "" "{PMID:Janssens 2015:26555887}" "" "" "" "Germline" "" "" "0" "" "" "g.128846445G>A" "" "VUS" "" "0000643409" "0" "50" "7" "128488685" "128488685" "subst" "0.000118156" "03571" "FLNC_000517" "g.128488685G>A" "" "{PMID:Janssens 2015:26555887}" "" "" "" "Germline" "" "" "0" "" "" "g.128848631G>A" "" "VUS" "" "0000643410" "0" "50" "7" "128488745" "128488745" "subst" "2.03769E-5" "03571" "FLNC_000258" "g.128488745G>A" "" "{PMID:Janssens 2015:26555887}" "" "" "" "Germline" "" "" "0" "" "" "g.128848691G>A" "" "VUS" "" "0000643411" "0" "50" "7" "128490102" "128490102" "subst" "0.000131219" "03571" "FLNC_000529" "g.128490102C>T" "" "{PMID:Janssens 2015:26555887}" "" "" "" "Germline" "" "" "0" "" "" "g.128850048C>T" "" "VUS" "" "0000643412" "0" "50" "7" "128491324" "128491324" "subst" "0.00525999" "03571" "FLNC_000101" "g.128491324C>T" "" "{PMID:Ostrowski 2016:28008999}" "" "" "" "Germline" "" "" "0" "" "" "g.128851270C>T" "" "VUS" "" "0000643413" "0" "50" "7" "128492918" "128492918" "subst" "2.43724E-5" "03571" "FLNC_000538" "g.128492918T>C" "" "{PMID:Janssens 2015:26555887}" "" "" "" "Germline" "" "" "0" "" "" "g.128852864T>C" "" "VUS" "" "0000643414" "0" "50" "7" "128492951" "128492951" "subst" "0" "03571" "FLNC_000540" "g.128492951C>T" "" "{PMID:Janssens 2015:26555887}" "" "" "" "Germline" "" "" "0" "" "" "g.128852897C>T" "" "VUS" "" "0000643415" "0" "50" "7" "128494692" "128494692" "subst" "1.23792E-5" "03571" "FLNC_000557" "g.128494692G>A" "" "{PMID:Janssens 2015:26555887}" "" "" "" "Germline" "" "" "0" "" "" "g.128854638G>A" "" "VUS" "" "0000643416" "0" "50" "7" "128496702" "128496702" "subst" "2.04633E-5" "03571" "FLNC_000569" "g.128496702G>A" "" "{PMID:Janssens 2015:26555887}" "" "" "" "Germline" "" "" "0" "" "" "g.128856648G>A" "" "VUS" "" "0000646958" "0" "90" "7" "128483611" "128483625" "del" "0" "00006" "FLNC_000578" "g.128483611_128483625del" "" "{PMID:Evilä 2016:26627873}" "" "" "" "Germline" "" "" "0" "" "" "g.128843557_128843571del" "" "pathogenic (dominant)" "" "0000647275" "0" "70" "7" "128475604" "128475604" "subst" "0" "01164" "FLNC_000146" "g.128475604G>A" "" "" "" "" "ACMG: PS3,PM2,PP3; Duff et al. 2011. Am J Hum Genet 88: 729; van den Bogaart et al. 2017. Neuromuscul Disord 27: 73" "Germline" "" "rs387906587" "0" "" "" "g.128835550G>A" "" "likely pathogenic" "ACMG" "0000652176" "1" "50" "7" "128480139" "128480139" "subst" "0.00028029" "03575" "FLNC_000202" "g.128480139A>G" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs118056738}" "Germline" "" "rs118056738" "0" "" "" "g.128840085A>G" "" "VUS" "" "0000652177" "1" "10" "7" "128481578" "128481578" "subst" "0.00345573" "03575" "FLNC_000218" "g.128481578A>C" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs34972246}" "Germline" "" "rs34972246" "0" "" "" "g.128841524A>C" "" "benign" "" "0000652178" "1" "10" "7" "128485240" "128485240" "subst" "0.00592992" "03575" "FLNC_000067" "g.128485240C>T" "12/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "12 heterozygous, no homozygous; {DB:CLININrs146953558}" "Germline" "" "rs146953558" "0" "" "" "g.128845186C>T" "" "benign" "" "0000652179" "1" "50" "7" "128490926" "128490926" "subst" "4.46791E-5" "03575" "FLNC_000279" "g.128490926C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs140857707}" "Germline" "" "rs140857707" "0" "" "" "g.128850872C>T" "" "VUS" "" "0000652181" "1" "10" "7" "128492817" "128492817" "subst" "0.0072462" "03575" "FLNC_000107" "g.128492817G>A" "10/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "10 heterozygous, no homozygous; {DB:CLININrs117653869}" "Germline" "" "rs117653869" "0" "" "" "g.128852763G>A" "" "benign" "" "0000655737" "0" "30" "7" "128471009" "128471009" "subst" "5.34544E-5" "02330" "FLNC_000329" "g.128471009C>G" "" "" "" "FLNC(NM_001458.5):c.318C>G (p.F106L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128830955C>G" "" "likely benign" "" "0000655738" "0" "10" "7" "128477684" "128477684" "subst" "0.000126647" "02330" "FLNC_000579" "g.128477684C>A" "" "" "" "FLNC(NM_001458.5):c.851-7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128837630C>A" "" "benign" "" "0000655739" "0" "30" "7" "128477693" "128477693" "subst" "5.75625E-5" "01943" "FLNC_000580" "g.128477693A>G" "" "" "" "FLNC(NM_001458.4):c.853A>G (p.I285V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128837639A>G" "" "likely benign" "" "0000655740" "0" "50" "7" "128478048" "128478048" "subst" "5.28283E-5" "02326" "FLNC_000021" "g.128478048T>C" "" "" "" "FLNC(NM_001127487.1):c.977T>C (p.(Val326Ala)), FLNC(NM_001458.4):c.977T>C (p.V326A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128837994T>C" "" "VUS" "" "0000655741" "0" "50" "7" "128478090" "128478090" "subst" "4.06197E-6" "02327" "FLNC_000581" "g.128478090A>G" "" "" "" "FLNC(NM_001458.5):c.1019A>G (p.Y340C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128838036A>G" "" "VUS" "" "0000655742" "0" "50" "7" "128480136" "128480136" "subst" "4.875E-5" "02330" "FLNC_000031" "g.128480136G>A" "" "" "" "FLNC(NM_001458.4):c.1471G>A (p.(Val491Met), p.V491M), FLNC(NM_001458.5):c.1471G>A (p.V491M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840082G>A" "" "VUS" "" "0000655743" "0" "50" "7" "128480697" "128480697" "subst" "4.06108E-5" "02325" "FLNC_000209" "g.128480697A>G" "" "" "" "FLNC(NM_001127487.1):c.1645A>G (p.(Ile549Val)), FLNC(NM_001458.4):c.1645A>G (p.I549V), FLNC(NM_001458.5):c.1645A>G (p.I549V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840643A>G" "" "VUS" "" "0000655744" "0" "50" "7" "128480725" "128480725" "subst" "3.65571E-5" "02330" "FLNC_000036" "g.128480725G>A" "" "" "" "FLNC(NM_001458.4):c.1673G>A (p.(Arg558His), p.R558H), FLNC(NM_001458.5):c.1673G>A (p.R558H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840671G>A" "" "VUS" "" "0000655745" "0" "50" "7" "128480893" "128480893" "subst" "0" "02327" "FLNC_000582" "g.128480893T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128840839T>C" "" "VUS" "" "0000655746" "0" "50" "7" "128481370" "128481370" "subst" "0" "02330" "FLNC_000583" "g.128481370T>C" "" "" "" "FLNC(NM_001458.5):c.1960T>C (p.F654L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128841316T>C" "" "VUS" "" "0000655747" "0" "10" "7" "128482948" "128482948" "subst" "4.47085E-5" "02330" "FLNC_000225" "g.128482948C>T" "" "" "" "FLNC(NM_001458.4):c.2490C>T (p.T830=), FLNC(NM_001458.5):c.2490C>T (p.T830=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128842894C>T" "" "benign" "" "0000655748" "0" "10" "7" "128484128" "128484128" "subst" "0.00103269" "02330" "FLNC_000372" "g.128484128T>C" "" "" "" "FLNC(NM_001458.4):c.3000T>C (p.D1000=), FLNC(NM_001458.5):c.3000T>C (p.D1000=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128844074T>C" "" "benign" "" "0000655749" "0" "30" "7" "128484281" "128484281" "subst" "6.57322E-5" "01943" "FLNC_000065" "g.128484281G>A" "" "" "" "FLNC(NM_001458.4):c.3153G>A (p.P1051=), FLNC(NM_001458.5):c.3153G>A (p.P1051=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128844227G>A" "" "likely benign" "" "0000655750" "0" "90" "7" "128484308" "128484308" "del" "0" "01943" "FLNC_000235" "g.128484308del" "" "" "" "FLNC(NM_001458.4):c.3180delT (p.D1061Ifs*17), FLNC(NM_001458.5):c.3180delT (p.D1061Ifs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128844254del" "" "pathogenic" "" "0000655751" "0" "30" "7" "128485142" "128485142" "subst" "0.000101592" "02325" "FLNC_000500" "g.128485142C>T" "" "" "" "FLNC(NM_001458.5):c.3623C>T (p.A1208V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128845088C>T" "" "likely benign" "" "0000655752" "0" "90" "7" "128487849" "128487849" "subst" "0" "02325" "FLNC_000584" "g.128487849C>T" "" "" "" "FLNC(NM_001458.5):c.4387C>T (p.Q1463*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128847795C>T" "" "pathogenic" "" "0000655753" "0" "50" "7" "128488745" "128488745" "subst" "2.03769E-5" "02326" "FLNC_000258" "g.128488745G>A" "" "" "" "FLNC(NM_001458.4):c.4711G>A (p.E1571K), FLNC(NM_001458.5):c.4711G>A (p.E1571K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128848691G>A" "" "VUS" "" "0000655754" "0" "50" "7" "128489588" "128489588" "subst" "8.13028E-6" "02327" "FLNC_000585" "g.128489588C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128849534C>T" "" "VUS" "" "0000655755" "0" "50" "7" "128490108" "128490108" "subst" "0.000185447" "02330" "FLNC_000530" "g.128490108G>A" "" "" "" "FLNC(NM_001458.4):c.5278G>A (p.G1760S), FLNC(NM_001458.5):c.5278G>A (p.G1760S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128850054G>A" "" "VUS" "" "0000655756" "0" "30" "7" "128491689" "128491689" "subst" "8.14001E-5" "02326" "FLNC_000586" "g.128491689C>T" "" "" "" "FLNC(NM_001458.4):c.5842+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128851635C>T" "" "likely benign" "" "0000655757" "0" "50" "7" "128492926" "128492926" "subst" "0" "02326" "FLNC_000158" "g.128492926G>A" "" "" "" "FLNC(NM_001458.4):c.6049G>A (p.V2017M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128852872G>A" "" "VUS" "" "0000655758" "0" "50" "7" "128492929" "128492929" "subst" "1.21869E-5" "01943" "FLNC_000587" "g.128492929C>T" "" "" "" "FLNC(NM_001458.4):c.6052C>T (p.R2018C), FLNC(NM_001458.5):c.6052C>T (p.R2018C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128852875C>T" "" "VUS" "" "0000655759" "0" "10" "7" "128494131" "128494131" "subst" "2.45473E-5" "02330" "FLNC_000588" "g.128494131G>A" "" "" "" "FLNC(NM_001458.5):c.6588G>A (p.T2196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854077G>A" "" "benign" "" "0000655760" "0" "50" "7" "128494259" "128494259" "subst" "0" "01943" "FLNC_000300" "g.128494259G>T" "" "" "" "FLNC(NM_001458.4):c.6716G>T (p.R2239L), FLNC(NM_001458.5):c.6716G>T (p.R2239L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854205G>T" "" "VUS" "" "0000655761" "0" "10" "7" "128494727" "128494727" "subst" "0.000673782" "02330" "FLNC_000127" "g.128494727G>A" "" "" "" "FLNC(NM_001127487.1):c.6889G>A (p.(Gly2297Ser)), FLNC(NM_001458.4):c.6988G>A (p.G2330S), FLNC(NM_001458.5):c.6988G>A (p.G2330S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128854673G>A" "" "benign" "" "0000655762" "0" "30" "7" "128496685" "128496685" "subst" "1.63905E-5" "02326" "FLNC_000589" "g.128496685C>T" "" "" "" "FLNC(NM_001458.4):c.7365C>T (p.Y2455=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128856631C>T" "" "likely benign" "" "0000655763" "0" "50" "7" "128497279" "128497279" "subst" "0" "02330" "FLNC_000590" "g.128497279G>A" "" "" "" "FLNC(NM_001458.5):c.7669G>A (p.E2557K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128857225G>A" "" "VUS" "" "0000660115" "0" "50" "7" "128486900" "128486900" "subst" "2.03079E-5" "01164" "FLNC_000591" "g.128486900T>A" "" "" "" "" "" "Germline" "" "rs778951900" "0" "" "" "g.128846846T>A" "" "VUS" "" "0000663265" "0" "50" "7" "128495322" "128495322" "subst" "0" "01164" "FLNC_000592" "g.128495322C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.128855268C>A" "" "VUS" "" "0000664825" "0" "50" "7" "128486492" "128486492" "subst" "0" "01164" "FLNC_000593" "g.128486492G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.128846438G>C" "" "VUS" "" "0000670722" "1" "50" "7" "128485225" "128485225" "subst" "3.2711E-5" "00006" "FLNC_000502" "g.128485225C>T" "" "{PMID:Yu 2017:28403181}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.128845171C>T" "" "VUS" "" "0000670747" "1" "50" "7" "128490108" "128490108" "subst" "0.000185447" "00006" "FLNC_000530" "g.128490108G>A" "" "{PMID:Yu 2017:28403181}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.128850054G>A" "" "VUS" "" "0000675294" "0" "90" "7" "128485076" "128485076" "subst" "0" "00534" "FLNC_000006" "g.128485076C>T" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "De novo" "" "" "0" "" "" "g.128845022C>T" "" "pathogenic (dominant)" "ACMG" "0000677950" "0" "30" "7" "128475476" "128475476" "subst" "3.25087E-5" "02327" "FLNC_000171" "g.128475476A>G" "" "" "" "FLNC(NM_001458.4):c.449A>G (p.(Asp150Gly), p.D150G), FLNC(NM_001458.5):c.449A>G (p.D150G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677951" "0" "90" "7" "128475581" "128475581" "subst" "0" "02330" "FLNC_000594" "g.128475581G>A" "" "" "" "FLNC(NM_001458.4):c.554G>A (p.W185*), FLNC(NM_001458.5):c.554G>A (p.W185*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000677952" "0" "30" "7" "128477198" "128477198" "subst" "0" "02327" "FLNC_000015" "g.128477198T>A" "" "" "" "FLNC(NM_001458.4):c.602-16T>A, FLNC(NM_001458.5):c.602-16T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677953" "0" "30" "7" "128477345" "128477345" "subst" "0.00831587" "02327" "FLNC_000595" "g.128477345G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677954" "0" "50" "7" "128478439" "128478439" "subst" "0.000109661" "02325" "FLNC_000596" "g.128478439G>A" "" "" "" "FLNC(NM_001458.4):c.1166G>A (p.G389D), FLNC(NM_001458.5):c.1166G>A (p.G389D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677955" "0" "50" "7" "128478671" "128478671" "subst" "4.09102E-6" "02330" "FLNC_000026" "g.128478671G>A" "" "" "" "FLNC(NM_001458.4):c.1225G>A (p.D409N), FLNC(NM_001458.5):c.1225G>A (p.D409N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677957" "0" "30" "7" "128480183" "128480183" "subst" "0.000572966" "01943" "FLNC_000597" "g.128480183C>T" "" "" "" "FLNC(NM_001458.4):c.1518C>T (p.S506=), FLNC(NM_001458.5):c.1518C>T (p.S506=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677958" "0" "50" "7" "128480657" "128480657" "subst" "5.68542E-5" "02327" "FLNC_000034" "g.128480657C>T" "" "" "" "FLNC(NM_001458.4):c.1605C>T (p.C535=), FLNC(NM_001458.5):c.1605C>T (p.C535=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677959" "0" "70" "7" "128480901" "128480901" "subst" "0" "02327" "FLNC_000598" "g.128480901C>T" "" "" "" "FLNC(NM_001458.4):c.1690C>T (p.Q564*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000677960" "0" "90" "7" "128480987" "128480987" "dup" "0" "02330" "FLNC_000599" "g.128480987dup" "" "" "" "FLNC(NM_001458.5):c.1776dupT (p.V593Cfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000677961" "0" "90" "7" "128481026" "128481026" "subst" "0" "01943" "FLNC_000354" "g.128481026T>C" "" "" "" "FLNC(NM_001458.4):c.1813+2T>C, FLNC(NM_001458.5):c.1813+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000677962" "0" "10" "7" "128481363" "128481363" "subst" "0.000125934" "02330" "FLNC_000600" "g.128481363C>T" "" "" "" "FLNC(NM_001458.5):c.1953C>T (p.D651=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000677963" "0" "30" "7" "128481386" "128481386" "subst" "0.000402253" "01943" "FLNC_000601" "g.128481386T>G" "" "" "" "FLNC(NM_001458.4):c.1976T>G (p.L659R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677964" "0" "30" "7" "128481386" "128481386" "subst" "0.000402253" "02326" "FLNC_000601" "g.128481386T>G" "" "" "" "FLNC(NM_001458.4):c.1976T>G (p.L659R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677965" "0" "50" "7" "128481541" "128481541" "subst" "5.2791E-5" "02327" "FLNC_000360" "g.128481541G>A" "" "" "" "FLNC(NM_001458.4):c.2041G>A (p.G681S), FLNC(NM_001458.5):c.2041G>A (p.G681S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677966" "0" "30" "7" "128482291" "128482291" "subst" "0.000321826" "02327" "FLNC_000043" "g.128482291G>A" "" "" "" "FLNC(NM_001458.4):c.2128G>A (p.D710N), FLNC(NM_001458.5):c.2128G>A (p.D710N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677967" "0" "50" "7" "128482635" "128482635" "subst" "7.51911E-5" "02330" "FLNC_000602" "g.128482635G>A" "" "" "" "FLNC(NM_001458.5):c.2272G>A (p.V758M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677968" "0" "50" "7" "128482708" "128482708" "subst" "2.65887E-5" "02330" "FLNC_000603" "g.128482708A>G" "" "" "" "FLNC(NM_001458.5):c.2345A>G (p.N782S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677969" "0" "30" "7" "128482977" "128482977" "subst" "2.03277E-5" "02327" "FLNC_000604" "g.128482977G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677970" "0" "70" "7" "128483362" "128483369" "del" "0" "02327" "FLNC_000605" "g.128483362_128483369del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000677971" "0" "10" "7" "128483882" "128483882" "subst" "8.12526E-6" "02330" "FLNC_000606" "g.128483882G>A" "" "" "" "FLNC(NM_001458.5):c.2844G>A (p.G948=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000677972" "0" "30" "7" "128484110" "128484110" "subst" "8.13068E-6" "02327" "FLNC_000607" "g.128484110C>T" "" "" "" "FLNC(NM_001458.5):c.2982C>T (p.G994=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677973" "0" "30" "7" "128484122" "128484122" "subst" "4.87797E-5" "02327" "FLNC_000608" "g.128484122A>G" "" "" "" "FLNC(NM_001458.5):c.2994A>G (p.Q998=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677974" "0" "50" "7" "128484183" "128484183" "subst" "0.000118124" "02330" "FLNC_000609" "g.128484183G>A" "" "" "" "FLNC(NM_001458.5):c.3055G>A (p.G1019S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677975" "0" "90" "7" "128484308" "128484308" "del" "0" "02325" "FLNC_000235" "g.128484308del" "" "" "" "FLNC(NM_001458.4):c.3180delT (p.D1061Ifs*17), FLNC(NM_001458.5):c.3180delT (p.D1061Ifs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000677976" "0" "50" "7" "128484899" "128484921" "dup" "0" "02327" "FLNC_000495" "g.128484899_128484921dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677977" "0" "30" "7" "128486025" "128486025" "subst" "4.09005E-6" "02327" "FLNC_000610" "g.128486025C>T" "" "" "" "FLNC(NM_001458.5):c.3791-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677978" "0" "50" "7" "128486444" "128486444" "subst" "2.05019E-5" "02330" "FLNC_000244" "g.128486444C>T" "" "" "" "FLNC(NM_001458.4):c.4054C>T (p.R1352C), FLNC(NM_001458.5):c.4054C>T (p.R1352C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677979" "0" "30" "7" "128486783" "128486783" "subst" "0" "02326" "FLNC_000611" "g.128486783G>A" "" "" "" "FLNC(NM_001458.4):c.4128-16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677980" "0" "30" "7" "128486824" "128486824" "subst" "0.000247972" "02327" "FLNC_000078" "g.128486824C>T" "" "" "" "FLNC(NM_001458.4):c.4153C>T (p.L1385=), FLNC(NM_001458.5):c.4153C>T (p.L1385=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677981" "0" "90" "7" "128487919" "128487919" "subst" "0" "02326" "FLNC_000612" "g.128487919G>A" "" "" "" "FLNC(NM_001458.4):c.4456+1G>A, FLNC(NM_001458.5):c.4456+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000677982" "0" "30" "7" "128488030" "128488030" "subst" "0.000132761" "02327" "FLNC_000254" "g.128488030T>C" "" "" "" "FLNC(NM_001458.5):c.4488T>C (p.N1496=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677983" "0" "50" "7" "128488118" "128488118" "subst" "0" "01943" "FLNC_000613" "g.128488118C>G" "" "" "" "FLNC(NM_001458.4):c.4576C>G (p.R1526G), FLNC(NM_001458.5):c.4576C>G (p.R1526G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677984" "0" "30" "7" "128490506" "128490506" "subst" "0.000199202" "01943" "FLNC_000614" "g.128490506C>T" "" "" "" "FLNC(NM_001458.4):c.5367C>T (p.I1789=), FLNC(NM_001458.5):c.5367C>T (p.I1789=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677985" "0" "50" "7" "128490926" "128490926" "subst" "4.46791E-5" "02326" "FLNC_000279" "g.128490926C>T" "" "" "" "FLNC(NM_001127487.1):c.5369C>T (p.(Thr1790Met)), FLNC(NM_001458.4):c.5468C>T (p.T1823M), FLNC(NM_001458.5):c.5468C>T (p.T1823M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677986" "0" "50" "7" "128491001" "128491001" "subst" "0" "02327" "FLNC_000615" "g.128491001A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677987" "0" "30" "7" "128491005" "128491005" "subst" "0" "02327" "FLNC_000616" "g.128491005A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677988" "0" "50" "7" "128494069" "128494069" "subst" "4.08797E-6" "02326" "FLNC_000548" "g.128494069C>T" "" "" "" "FLNC(NM_001458.4):c.6526C>T (p.R2176C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677989" "0" "70" "7" "128494136" "128494136" "del" "0" "02326" "FLNC_000617" "g.128494136del" "" "" "" "FLNC(NM_001458.4):c.6593delG (p.G2198Afs*53)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000677990" "0" "30" "7" "128494547" "128494547" "subst" "0.000710886" "02326" "FLNC_000121" "g.128494547G>A" "" "" "" "FLNC(NM_001458.4):c.6808G>A (p.E2270K), FLNC(NM_001458.5):c.6808G>A (p.E2270K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677991" "0" "30" "7" "128494547" "128494547" "subst" "0.000710886" "02327" "FLNC_000121" "g.128494547G>A" "" "" "" "FLNC(NM_001458.4):c.6808G>A (p.E2270K), FLNC(NM_001458.5):c.6808G>A (p.E2270K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677992" "0" "30" "7" "128494951" "128494951" "subst" "4.06273E-6" "01943" "FLNC_000618" "g.128494951G>A" "" "" "" "FLNC(NM_001458.4):c.7120G>A (p.V2374I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677993" "0" "50" "7" "128495367" "128495367" "subst" "0" "02327" "FLNC_000619" "g.128495367A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677994" "0" "50" "7" "128496692" "128496692" "subst" "0" "02326" "FLNC_000620" "g.128496692G>A" "" "" "" "FLNC(NM_001458.4):c.7372G>A (p.E2458K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677995" "0" "50" "7" "128496702" "128496702" "subst" "2.04633E-5" "02330" "FLNC_000569" "g.128496702G>A" "" "" "" "FLNC(NM_001458.4):c.7382G>A (p.S2461N), FLNC(NM_001458.5):c.7382G>A (p.S2461N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677996" "0" "50" "7" "128498101" "128498101" "subst" "0" "02330" "ATP6V1F_000013" "g.128498101C>A" "" "" "" "FLNC(NM_001458.5):c.7820C>A (p.S2607Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677997" "0" "50" "7" "128498449" "128498449" "subst" "0" "02327" "ATP6V1F_000014" "g.128498449G>A" "" "" "" "FLNC(NM_001458.4):c.8050G>A (p.(Val2684Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677998" "0" "50" "7" "128498572" "128498572" "subst" "0" "02330" "ATP6V1F_000015" "g.128498572C>A" "" "" "" "FLNC(NM_001458.5):c.8173C>A (p.P2725T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689899" "0" "30" "7" "128475371" "128475371" "subst" "4.09443E-6" "01943" "FLNC_000621" "g.128475371C>T" "" "" "" "FLNC(NM_001458.4):c.353-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689900" "0" "50" "7" "128478439" "128478439" "subst" "0.000109661" "02326" "FLNC_000596" "g.128478439G>A" "" "" "" "FLNC(NM_001458.4):c.1166G>A (p.G389D), FLNC(NM_001458.5):c.1166G>A (p.G389D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689901" "0" "30" "7" "128480744" "128480744" "subst" "4.0627E-6" "02326" "FLNC_000622" "g.128480744C>T" "" "" "" "FLNC(NM_001458.4):c.1676+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689902" "0" "30" "7" "128482362" "128482362" "subst" "0.000130083" "01943" "FLNC_000045" "g.128482362C>G" "" "" "" "FLNC(NM_001458.4):c.2199C>G (p.T733=), FLNC(NM_001458.5):c.2199C>G (p.T733=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689903" "0" "10" "7" "128484218" "128484218" "subst" "5.71284E-5" "02330" "FLNC_000623" "g.128484218C>T" "" "" "" "FLNC(NM_001458.4):c.3090C>T (p.P1030=), FLNC(NM_001458.5):c.3090C>T (p.P1030=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000689904" "0" "30" "7" "128484218" "128484218" "subst" "5.71284E-5" "02326" "FLNC_000623" "g.128484218C>T" "" "" "" "FLNC(NM_001458.4):c.3090C>T (p.P1030=), FLNC(NM_001458.5):c.3090C>T (p.P1030=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689905" "0" "50" "7" "128484775" "128484775" "subst" "0" "02326" "FLNC_000624" "g.128484775G>A" "" "" "" "FLNC(NM_001458.4):c.3256G>A (p.D1086N), FLNC(NM_001458.5):c.3256G>A (p.D1086N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689906" "0" "10" "7" "128486114" "128486114" "subst" "0.000382864" "02330" "FLNC_000625" "g.128486114C>T" "" "" "" "FLNC(NM_001458.5):c.3861C>T (p.H1287=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000689907" "0" "10" "7" "128487932" "128487932" "subst" "0.000391821" "02330" "FLNC_000626" "g.128487932G>A" "" "" "" "FLNC(NM_001458.5):c.4456+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000689908" "0" "10" "7" "128490092" "128490092" "subst" "0.000376421" "02330" "FLNC_000627" "g.128490092C>T" "" "" "" "FLNC(NM_001458.5):c.5262C>T (p.Y1754=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000689909" "0" "30" "7" "128490102" "128490102" "subst" "0.000131219" "01943" "FLNC_000529" "g.128490102C>T" "" "" "" "FLNC(NM_001458.4):c.5272C>T (p.R1758W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689910" "0" "50" "7" "128490108" "128490108" "subst" "0.000185447" "01943" "FLNC_000530" "g.128490108G>A" "" "" "" "FLNC(NM_001458.4):c.5278G>A (p.G1760S), FLNC(NM_001458.5):c.5278G>A (p.G1760S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689911" "0" "50" "7" "128493082" "128493082" "subst" "0" "02330" "FLNC_000113" "g.128493082G>A" "" "" "" "FLNC(NM_001458.4):c.6205G>A (p.A2069T), FLNC(NM_001458.5):c.6205G>A (p.A2069T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689912" "0" "50" "7" "128494106" "128494106" "subst" "1.63471E-5" "01943" "FLNC_000628" "g.128494106C>T" "" "" "" "FLNC(NM_001458.4):c.6563C>T (p.T2188M), FLNC(NM_001458.5):c.6563C>T (p.T2188M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689913" "0" "30" "7" "128494627" "128494627" "subst" "0.00028216" "02326" "FLNC_000126" "g.128494627C>T" "" "" "" "FLNC(NM_001458.4):c.6888C>T (p.H2296=), FLNC(NM_001458.5):c.6888C>T (p.H2296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689914" "0" "50" "7" "128494697" "128494697" "subst" "0" "01943" "FLNC_000629" "g.128494697G>A" "" "" "" "FLNC(NM_001458.4):c.6958G>A (p.G2320R, p.(Gly2320Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689915" "0" "30" "7" "128494869" "128494869" "subst" "7.71956E-5" "01943" "FLNC_000128" "g.128494869C>A" "" "" "" "FLNC(NM_001127487.1):c.6939C>A (p.(Gly2313=)), FLNC(NM_001458.4):c.7038C>A (p.G2346=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689916" "0" "50" "7" "128496609" "128496609" "subst" "9.86031E-5" "01943" "FLNC_000314" "g.128496609C>T" "" "" "" "FLNC(NM_001458.4):c.7289C>T (p.A2430V), FLNC(NM_001458.5):c.7289C>T (p.A2430V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689917" "0" "50" "7" "128496692" "128496692" "subst" "0" "02327" "FLNC_000620" "g.128496692G>A" "" "" "" "FLNC(NM_001458.4):c.7372G>A (p.E2458K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689918" "0" "50" "7" "128496898" "128496898" "subst" "2.03092E-5" "01943" "FLNC_000570" "g.128496898G>A" "" "" "" "FLNC(NM_001458.4):c.7484G>A (p.R2495H, p.(Arg2495His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689919" "0" "50" "7" "128496975" "128496975" "subst" "0" "02330" "FLNC_000630" "g.128496975G>A" "" "" "" "FLNC(NM_001458.5):c.7561G>A (p.G2521S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689920" "0" "30" "7" "128498448" "128498448" "subst" "0.000457576" "01943" "ATP6V1F_000016" "g.128498448C>T" "" "" "" "FLNC(NM_001458.4):c.8049C>T (p.Y2683=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000697560" "0" "70" "7" "128478771" "128478771" "subst" "0" "00006" "FLNC_000634" "g.128478771C>G" "2/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.128838717C>G" "" "likely pathogenic" "" "0000697561" "0" "70" "7" "128475604" "128475604" "subst" "0" "00006" "FLNC_000146" "g.128475604G>A" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.128835550G>A" "" "likely pathogenic" "" "0000697562" "0" "70" "7" "128477255" "128477255" "subst" "4.4541E-5" "00006" "FLNC_000631" "g.128477255G>A" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.128837201G>A" "" "likely pathogenic" "" "0000697563" "0" "70" "7" "128477471" "128477471" "subst" "0" "00006" "FLNC_000632" "g.128477471T>C" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.128837417T>C" "" "likely pathogenic" "" "0000697564" "0" "70" "7" "128477506" "128477506" "subst" "0" "00006" "FLNC_000633" "g.128477506A>C" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.128837452A>C" "" "likely pathogenic" "" "0000697565" "0" "70" "7" "128480211" "128480211" "subst" "4.06785E-6" "00006" "FLNC_000009" "g.128480211C>A" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.128840157C>A" "" "likely pathogenic" "" "0000697566" "0" "70" "7" "128481584" "128481584" "subst" "8.12176E-6" "00006" "FLNC_000635" "g.128481584G>C" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.128841530G>C" "" "likely pathogenic" "" "0000697567" "0" "70" "7" "128482674" "128482674" "subst" "0" "00006" "FLNC_000636" "g.128482674G>A" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.128842620G>A" "" "likely pathogenic" "" "0000697568" "0" "70" "7" "128488740" "128488740" "subst" "1.22296E-5" "00006" "FLNC_000637" "g.128488740C>T" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.128848686C>T" "" "likely pathogenic" "" "0000697569" "0" "70" "7" "128491647" "128491647" "subst" "4.06157E-6" "00006" "FLNC_000638" "g.128491647A>C" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.128851593A>C" "" "likely pathogenic" "" "0000697570" "0" "70" "7" "128492798" "128492798" "subst" "1.62668E-5" "00006" "FLNC_000536" "g.128492798G>A" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.128852744G>A" "" "likely pathogenic" "" "0000697571" "0" "70" "7" "128498529" "128498529" "subst" "0" "00006" "FLNC_000001" "g.128498529G>A" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.128858475G>A" "" "likely pathogenic" "" "0000704350" "0" "50" "7" "128482327" "128482327" "subst" "2.44008E-5" "00006" "FLNC_000220" "g.128482327G>A" "" "{PMID:Isbister 2020:32931854}" "" "" "" "Germline" "" "" "0" "" "" "g.128842273G>A" "" "VUS" "ACMG" "0000721224" "0" "30" "7" "128470922" "128470922" "subst" "0" "01943" "FLNC_000640" "g.128470922C>T" "" "" "" "FLNC(NM_001458.4):c.231C>T (p.L77=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721225" "0" "50" "7" "128470939" "128470956" "dup" "0" "02326" "FLNC_000327" "g.128470939_128470956dup" "" "" "" "FLNC(NM_001458.4):c.248_265dupACCGCAAGTTCCATCCGC (p.P88_R89insHRKFHP), FLNC(NM_001458.5):c.248_265dupACCGCAAGTTCCATCCGC (p.P88_R89insHRKFHP)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721226" "0" "50" "7" "128475546" "128475546" "subst" "0" "02326" "FLNC_000641" "g.128475546G>A" "" "" "" "FLNC(NM_001458.4):c.519G>A (p.V173=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721227" "0" "70" "7" "128475604" "128475604" "subst" "0" "02329" "FLNC_000146" "g.128475604G>A" "" "" "" "FLNC(NM_001458.5):c.577G>A (p.A193T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000721228" "0" "10" "7" "128475624" "128475624" "subst" "0.00187891" "02330" "FLNC_000014" "g.128475624C>T" "" "" "" "FLNC(NM_001127487.1):c.597C>T (p.(Ala199=)), FLNC(NM_001458.4):c.597C>T (p.A199=), FLNC(NM_001458.5):c.597C>T (p.A199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000721229" "0" "10" "7" "128477254" "128477254" "subst" "6.69529E-5" "02330" "FLNC_000642" "g.128477254C>T" "" "" "" "FLNC(NM_001458.5):c.642C>T (p.P214=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000721230" "0" "70" "7" "128477450" "128477450" "subst" "0" "02329" "FLNC_000187" "g.128477450A>G" "" "" "" "FLNC(NM_001458.5):c.700-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000721231" "0" "90" "7" "128477557" "128477557" "subst" "4.06121E-6" "01943" "FLNC_000456" "g.128477557C>T" "" "" "" "FLNC(NM_001458.4):c.805C>T (p.R269*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000721232" "0" "50" "7" "128477738" "128477738" "subst" "2.48472E-5" "02326" "FLNC_000643" "g.128477738G>A" "" "" "" "FLNC(NM_001458.4):c.898G>A (p.V300M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721233" "0" "50" "7" "128477745" "128477745" "subst" "2.92229E-5" "01943" "FLNC_000644" "g.128477745C>T" "" "" "" "FLNC(NM_001458.4):c.905C>T (p.T302M), FLNC(NM_001458.5):c.905C>T (p.T302M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721234" "0" "30" "7" "128478036" "128478036" "subst" "2.43902E-5" "02325" "FLNC_000645" "g.128478036A>G" "" "" "" "FLNC(NM_001458.5):c.970-5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721235" "0" "50" "7" "128478071" "128478071" "subst" "2.43746E-5" "02330" "FLNC_000646" "g.128478071C>A" "" "" "" "FLNC(NM_001458.5):c.1000C>A (p.R334S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721236" "0" "30" "7" "128478381" "128478381" "subst" "9.74611E-5" "01943" "FLNC_000025" "g.128478381A>G" "" "" "" "FLNC(NM_001458.4):c.1108A>G (p.M370V), FLNC(NM_001458.5):c.1108A>G (p.M370V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721237" "0" "50" "7" "128478794" "128478794" "subst" "3.66659E-5" "02329" "FLNC_000196" "g.128478794G>A" "" "" "" "FLNC(NM_001458.5):c.1348G>A (p.V450M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721238" "0" "50" "7" "128480139" "128480139" "subst" "0.00028029" "02325" "FLNC_000202" "g.128480139A>G" "" "" "" "FLNC(NM_001458.4):c.1474A>G (p.K492E), FLNC(NM_001458.5):c.1474A>G (p.K492E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721239" "0" "30" "7" "128480139" "128480139" "subst" "0.00028029" "02326" "FLNC_000202" "g.128480139A>G" "" "" "" "FLNC(NM_001458.4):c.1474A>G (p.K492E), FLNC(NM_001458.5):c.1474A>G (p.K492E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721240" "0" "50" "7" "128480620" "128480620" "subst" "0.00021118" "02326" "FLNC_000349" "g.128480620T>C" "" "" "" "FLNC(NM_001458.4):c.1568T>C (p.V523A), FLNC(NM_001458.5):c.1568T>C (p.V523A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721241" "0" "50" "7" "128480697" "128480697" "subst" "4.06108E-5" "02329" "FLNC_000209" "g.128480697A>G" "" "" "" "FLNC(NM_001127487.1):c.1645A>G (p.(Ile549Val)), FLNC(NM_001458.4):c.1645A>G (p.I549V), FLNC(NM_001458.5):c.1645A>G (p.I549V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721242" "0" "50" "7" "128480697" "128480697" "subst" "4.06108E-5" "01804" "FLNC_000209" "g.128480697A>G" "" "" "" "FLNC(NM_001127487.1):c.1645A>G (p.(Ile549Val)), FLNC(NM_001458.4):c.1645A>G (p.I549V), FLNC(NM_001458.5):c.1645A>G (p.I549V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721243" "0" "50" "7" "128480715" "128480715" "subst" "8.12354E-6" "02330" "FLNC_000647" "g.128480715G>A" "" "" "" "FLNC(NM_001458.5):c.1663G>A (p.A555T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721244" "0" "50" "7" "128481295" "128481295" "subst" "2.43708E-5" "02329" "FLNC_000149" "g.128481295C>T" "" "" "" "FLNC(NM_001458.4):c.1885C>T (p.R629W), FLNC(NM_001458.5):c.1885C>T (p.R629W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721245" "0" "30" "7" "128481333" "128481333" "subst" "0.00023151" "02326" "FLNC_000213" "g.128481333C>T" "" "" "" "FLNC(NM_001127487.1):c.1923C>T (p.(His641=)), FLNC(NM_001458.4):c.1923C>T (p.H641=), FLNC(NM_001458.5):c.1923C>T (p.H641=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721246" "0" "50" "7" "128481334" "128481334" "subst" "3.6553E-5" "02329" "FLNC_000039" "g.128481334G>A" "" "" "" "FLNC(NM_001458.4):c.1924G>A (p.V642I), FLNC(NM_001458.5):c.1924G>A (p.V642I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721247" "0" "50" "7" "128482713" "128482713" "subst" "0" "02330" "FLNC_000648" "g.128482713C>G" "" "" "" "FLNC(NM_001458.5):c.2350C>G (p.P784A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721248" "0" "50" "7" "128482949" "128482949" "subst" "2.03219E-5" "02325" "FLNC_000367" "g.128482949G>A" "" "" "" "FLNC(NM_001127487.1):c.2491G>A (p.(Val831Ile)), FLNC(NM_001458.5):c.2491G>A (p.V831I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721249" "0" "30" "7" "128482959" "128482959" "subst" "0.00822425" "01804" "FLNC_000055" "g.128482959C>T" "" "" "" "FLNC(NM_001127487.1):c.2501C>T (p.(Thr834Met)), FLNC(NM_001458.4):c.2501C>T (p.T834M), FLNC(NM_001458.5):c.2501C>T (p.T834M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721250" "0" "90" "7" "128483611" "128483625" "del" "0" "02329" "FLNC_000228" "g.128483611_128483625del" "" "" "" "FLNC(NM_001458.5):c.2791_2805delAAGTACACCGCTGTC (p.K931_V935del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000721251" "0" "10" "7" "128483879" "128483879" "subst" "0.000461684" "02330" "FLNC_000230" "g.128483879C>T" "" "" "" "FLNC(NM_001458.4):c.2841C>T (p.G947=), FLNC(NM_001458.5):c.2841C>T (p.G947=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000721252" "0" "10" "7" "128484110" "128484110" "subst" "8.13068E-6" "02330" "FLNC_000607" "g.128484110C>T" "" "" "" "FLNC(NM_001458.5):c.2982C>T (p.G994=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000721253" "0" "30" "7" "128484128" "128484128" "subst" "0.00103269" "01943" "FLNC_000372" "g.128484128T>C" "" "" "" "FLNC(NM_001458.4):c.3000T>C (p.D1000=), FLNC(NM_001458.5):c.3000T>C (p.D1000=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721254" "0" "50" "7" "128484183" "128484183" "subst" "0.000118124" "02329" "FLNC_000609" "g.128484183G>A" "" "" "" "FLNC(NM_001458.5):c.3055G>A (p.G1019S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721255" "0" "10" "7" "128485260" "128485260" "subst" "1.63957E-5" "02330" "FLNC_000649" "g.128485260G>A" "" "" "" "FLNC(NM_001458.5):c.3741G>A (p.A1247=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000721256" "0" "10" "7" "128485276" "128485276" "subst" "0.00131328" "02326" "FLNC_000068" "g.128485276G>A" "" "" "" "FLNC(NM_001458.4):c.3757G>A (p.V1253I), FLNC(NM_001458.5):c.3757G>A (p.V1253I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000721257" "0" "50" "7" "128486357" "128486357" "subst" "8.15701E-6" "02329" "FLNC_000074" "g.128486357G>A" "" "" "" "FLNC(NM_001458.4):c.3967G>A (p.V1323M), FLNC(NM_001458.5):c.3967G>A (p.V1323M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721258" "0" "50" "7" "128486357" "128486357" "subst" "8.15701E-6" "02330" "FLNC_000650" "g.128486357G>T" "" "" "" "FLNC(NM_001458.5):c.3967G>T (p.V1323L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721259" "0" "50" "7" "128486393" "128486393" "subst" "3.66262E-5" "02330" "FLNC_000507" "g.128486393G>A" "" "" "" "FLNC(NM_001458.5):c.4003G>A (p.V1335M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721260" "0" "30" "7" "128486412" "128486412" "subst" "0.00103456" "01943" "FLNC_000076" "g.128486412G>A" "" "" "" "FLNC(NM_001458.4):c.4022G>A (p.R1341Q), FLNC(NM_001458.5):c.4022G>A (p.R1341Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721261" "0" "10" "7" "128486515" "128486515" "subst" "0.000140175" "02330" "FLNC_000651" "g.128486515C>T" "" "" "" "FLNC(NM_001458.5):c.4125C>T (p.T1375=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000721262" "0" "50" "7" "128488118" "128488118" "subst" "0" "02325" "FLNC_000613" "g.128488118C>G" "" "" "" "FLNC(NM_001458.4):c.4576C>G (p.R1526G), FLNC(NM_001458.5):c.4576C>G (p.R1526G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721263" "0" "50" "7" "128488727" "128488727" "subst" "0" "02326" "FLNC_000652" "g.128488727G>A" "" "" "" "FLNC(NM_001458.4):c.4693G>A (p.D1565N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721264" "0" "30" "7" "128489557" "128489557" "subst" "2.84349E-5" "02326" "FLNC_000653" "g.128489557G>A" "" "" "" "FLNC(NM_001458.4):c.5124G>A (p.A1708=), FLNC(NM_001458.5):c.5124G>A (p.A1708=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721265" "0" "50" "7" "128489589" "128489589" "subst" "2.84615E-5" "02329" "FLNC_000399" "g.128489589G>A" "" "" "" "FLNC(NM_001458.5):c.5156G>A (p.R1719H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721266" "0" "50" "7" "128490126" "128490126" "subst" "4.35155E-5" "01943" "FLNC_000654" "g.128490126T>C" "" "" "" "FLNC(NM_001458.4):c.5296T>C (p.W1766R), FLNC(NM_001458.5):c.5296T>C (p.W1766R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721267" "0" "10" "7" "128490506" "128490506" "subst" "0.000199202" "02330" "FLNC_000614" "g.128490506C>T" "" "" "" "FLNC(NM_001458.4):c.5367C>T (p.I1789=), FLNC(NM_001458.5):c.5367C>T (p.I1789=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000721268" "0" "30" "7" "128490506" "128490506" "subst" "0.000199202" "02326" "FLNC_000614" "g.128490506C>T" "" "" "" "FLNC(NM_001458.4):c.5367C>T (p.I1789=), FLNC(NM_001458.5):c.5367C>T (p.I1789=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721269" "0" "70" "7" "128492915" "128492915" "del" "0" "01943" "FLNC_000655" "g.128492915del" "" "" "" "FLNC(NM_001458.4):c.6038delA (p.H2013Pfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000721270" "0" "50" "7" "128492926" "128492926" "subst" "0" "01943" "FLNC_000158" "g.128492926G>A" "" "" "" "FLNC(NM_001458.4):c.6049G>A (p.V2017M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721271" "0" "50" "7" "128493011" "128493011" "subst" "4.47307E-5" "02330" "FLNC_000290" "g.128493011G>A" "" "" "" "FLNC(NM_001458.4):c.6134G>A (p.R2045Q), FLNC(NM_001458.5):c.6134G>A (p.R2045Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721272" "0" "10" "7" "128493629" "128493629" "subst" "2.43704E-5" "02330" "FLNC_000656" "g.128493629C>T" "" "" "" "FLNC(NM_001458.5):c.6315C>T (p.P2105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000721273" "0" "50" "7" "128494225" "128494225" "subst" "4.14528E-6" "01943" "FLNC_000657" "g.128494225C>T" "" "" "" "FLNC(NM_001458.4):c.6682C>T (p.R2228W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721274" "0" "50" "7" "128494256" "128494256" "subst" "0" "02329" "FLNC_000298" "g.128494256C>T" "" "" "" "FLNC(NM_001458.5):c.6713C>T (p.T2238I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721275" "0" "30" "7" "128494547" "128494547" "subst" "0.000710886" "02325" "FLNC_000121" "g.128494547G>A" "" "" "" "FLNC(NM_001458.4):c.6808G>A (p.E2270K), FLNC(NM_001458.5):c.6808G>A (p.E2270K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721276" "0" "50" "7" "128494547" "128494547" "subst" "0.000710886" "02329" "FLNC_000121" "g.128494547G>A" "" "" "" "FLNC(NM_001458.4):c.6808G>A (p.E2270K), FLNC(NM_001458.5):c.6808G>A (p.E2270K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721277" "0" "50" "7" "128494563" "128494563" "subst" "0" "02329" "FLNC_000122" "g.128494563G>T" "" "" "" "FLNC(NM_001458.5):c.6824G>T (p.S2275I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721278" "0" "10" "7" "128494603" "128494603" "subst" "4.76009E-5" "02330" "FLNC_000124" "g.128494603C>T" "" "" "" "FLNC(NM_001458.4):c.6864C>T (p.V2288=), FLNC(NM_001458.5):c.6864C>T (p.V2288=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000721279" "0" "90" "7" "128494652" "128494653" "del" "0" "02325" "FLNC_000658" "g.128494652_128494653del" "" "" "" "FLNC(NM_001458.5):c.6913_6914delAC (p.T2305Cfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000721280" "0" "50" "7" "128496630" "128496630" "subst" "2.46469E-5" "02329" "FLNC_000435" "g.128496630G>A" "" "" "" "FLNC(NM_001458.5):c.7310G>A (p.R2437Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721281" "0" "50" "7" "128496837" "128496837" "subst" "2.84278E-5" "02329" "FLNC_000317" "g.128496837G>A" "" "" "" "FLNC(NM_001458.4):c.7423G>A (p.V2475I), FLNC(NM_001458.5):c.7423G>A (p.V2475I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721282" "0" "50" "7" "128497267" "128497267" "subst" "0" "01943" "FLNC_000134" "g.128497267C>T" "" "" "" "FLNC(NM_001458.4):c.7657C>T (p.R2553W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721283" "0" "30" "7" "128498371" "128498371" "subst" "0.000359063" "02326" "FLNC_000140" "g.128498371C>T" "" "" "" "FLNC(NM_001127487.1):c.7892-19C>T (p.(=)), FLNC(NM_001458.4):c.7991-19C>T, FLNC(NM_001458.5):c.7991-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729366" "21" "30" "7" "128486445" "128486445" "subst" "5.33189E-5" "03361" "FLNC_000639" "g.128486445G>A" "" "" "" "" "asymptomatic family member is carrier of this variant" "Germline" "no" "" "" "" "" "" "" "likely benign" "ACMG" "0000787282" "0" "50" "7" "128483886" "128483886" "subst" "0" "00006" "FLNC_000659" "g.128483886C>G" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.128843832C>G" "" "VUS" "" "0000787571" "0" "50" "7" "128481346" "128481346" "subst" "1.62473E-5" "00000" "FLNC_000150" "g.128481346G>A" "" "0" "" "" "" "Germline" "" "rs372668691" "0" "" "" "g.128841292G>A" "" "VUS" "" "0000791006" "0" "30" "7" "128491689" "128491689" "subst" "8.14001E-5" "03779" "FLNC_000586" "g.128491689C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs370905549" "0" "" "" "" "" "likely benign" "" "0000802893" "0" "50" "7" "128471035" "128471035" "subst" "0" "02326" "FLNC_000660" "g.128471035T>G" "" "" "" "FLNC(NM_001458.4):c.344T>G (p.V115G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802894" "0" "30" "7" "128475476" "128475476" "subst" "3.25087E-5" "02325" "FLNC_000171" "g.128475476A>G" "" "" "" "FLNC(NM_001458.4):c.449A>G (p.(Asp150Gly), p.D150G), FLNC(NM_001458.5):c.449A>G (p.D150G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802895" "0" "50" "7" "128478381" "128478381" "subst" "9.74611E-5" "02330" "FLNC_000025" "g.128478381A>G" "" "" "" "FLNC(NM_001458.4):c.1108A>G (p.M370V), FLNC(NM_001458.5):c.1108A>G (p.M370V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802896" "0" "50" "7" "128478671" "128478671" "subst" "4.09102E-6" "02325" "FLNC_000026" "g.128478671G>A" "" "" "" "FLNC(NM_001458.4):c.1225G>A (p.D409N), FLNC(NM_001458.5):c.1225G>A (p.D409N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802897" "0" "50" "7" "128481296" "128481296" "subst" "4.8742E-5" "02326" "FLNC_000037" "g.128481296G>A" "" "" "" "FLNC(NM_001458.4):c.1886G>A (p.R629Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802898" "0" "50" "7" "128481541" "128481541" "subst" "5.2791E-5" "02325" "FLNC_000360" "g.128481541G>A" "" "" "" "FLNC(NM_001458.4):c.2041G>A (p.G681S), FLNC(NM_001458.5):c.2041G>A (p.G681S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802899" "0" "50" "7" "128481568" "128481568" "subst" "0.000162433" "02325" "FLNC_000040" "g.128481568T>C" "" "" "" "FLNC(NM_001127487.1):c.2068T>C (p.(Phe690Leu)), FLNC(NM_001458.4):c.2068T>C (p.F690L), FLNC(NM_001458.5):c.2068T>C (p.F690L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802900" "0" "90" "7" "128482390" "128482390" "del" "0" "02330" "FLNC_000661" "g.128482390del" "" "" "" "FLNC(NM_001458.5):c.2227delT (p.S743Pfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000802901" "0" "30" "7" "128482624" "128482624" "subst" "8.21625E-5" "01943" "FLNC_000662" "g.128482624C>T" "" "" "" "FLNC(NM_001458.4):c.2266-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802902" "0" "30" "7" "128482625" "128482625" "subst" "3.42025E-5" "02326" "FLNC_000663" "g.128482625G>A" "" "" "" "FLNC(NM_001127487.1):c.2266-4G>A (p.?), FLNC(NM_001458.4):c.2266-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802903" "0" "10" "7" "128483927" "128483927" "subst" "0.00069863" "02330" "FLNC_000059" "g.128483927G>A" "" "" "" "FLNC(NM_001458.4):c.2889G>A (p.P963=), FLNC(NM_001458.5):c.2889G>A (p.P963=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802904" "0" "50" "7" "128484692" "128484692" "subst" "0" "02326" "FLNC_000664" "g.128484692C>A" "" "" "" "FLNC(NM_001458.4):c.3193-20C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802905" "0" "50" "7" "128484778" "128484778" "subst" "4.0653E-6" "02330" "FLNC_000164" "g.128484778A>C" "" "" "" "FLNC(NM_001458.4):c.3259A>C (p.T1087P), FLNC(NM_001458.5):c.3259A>C (p.T1087P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802906" "0" "10" "7" "128484840" "128484840" "subst" "1.2186E-5" "02330" "FLNC_000665" "g.128484840C>T" "" "" "" "FLNC(NM_001458.5):c.3321C>T (p.I1107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802907" "0" "30" "7" "128485241" "128485241" "subst" "6.14175E-5" "02325" "FLNC_000666" "g.128485241G>A" "" "" "" "FLNC(NM_001458.5):c.3722G>A (p.R1241H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802908" "0" "50" "7" "128486191" "128486191" "subst" "0.000203343" "02330" "FLNC_000072" "g.128486191G>A" "" "" "" "FLNC(NM_001127487.1):c.3938G>A (p.(Arg1313Gln)), FLNC(NM_001458.4):c.3938G>A (p.R1313Q), FLNC(NM_001458.5):c.3938G>A (p.R1313Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802909" "0" "50" "7" "128486205" "128486205" "subst" "8.13769E-6" "02325" "FLNC_000667" "g.128486205G>A" "" "" "" "FLNC(NM_001458.5):c.3952G>A (p.A1318T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802910" "0" "50" "7" "128486444" "128486444" "subst" "2.05019E-5" "01943" "FLNC_000244" "g.128486444C>T" "" "" "" "FLNC(NM_001458.4):c.4054C>T (p.R1352C), FLNC(NM_001458.5):c.4054C>T (p.R1352C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802911" "0" "10" "7" "128486824" "128486824" "subst" "0.000247972" "02330" "FLNC_000078" "g.128486824C>T" "" "" "" "FLNC(NM_001458.4):c.4153C>T (p.L1385=), FLNC(NM_001458.5):c.4153C>T (p.L1385=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802912" "0" "70" "7" "128487919" "128487919" "subst" "0" "02325" "FLNC_000612" "g.128487919G>A" "" "" "" "FLNC(NM_001458.4):c.4456+1G>A, FLNC(NM_001458.5):c.4456+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000802913" "0" "50" "7" "128488685" "128488685" "subst" "0.000118156" "01943" "FLNC_000517" "g.128488685G>A" "" "" "" "FLNC(NM_001458.4):c.4651G>A (p.A1551T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802914" "0" "50" "7" "128488740" "128488740" "subst" "1.22296E-5" "02325" "FLNC_000637" "g.128488740C>T" "" "" "" "FLNC(NM_001458.5):c.4706C>T (p.A1569V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802915" "0" "50" "7" "128488745" "128488745" "subst" "2.03769E-5" "01943" "FLNC_000258" "g.128488745G>A" "" "" "" "FLNC(NM_001458.4):c.4711G>A (p.E1571K), FLNC(NM_001458.5):c.4711G>A (p.E1571K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802916" "0" "10" "7" "128488852" "128488852" "subst" "0" "02330" "FLNC_000668" "g.128488852C>G" "" "" "" "FLNC(NM_001458.5):c.4743C>G (p.P1581=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802917" "0" "50" "7" "128488853" "128488853" "subst" "4.06464E-6" "01943" "FLNC_000669" "g.128488853G>A" "" "" "" "FLNC(NM_001458.4):c.4744G>A (p.E1582K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802918" "0" "50" "7" "128489635" "128489635" "subst" "0" "02325" "FLNC_000670" "g.128489635A>G" "" "" "" "FLNC(NM_001458.5):c.5199+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802919" "0" "50" "7" "128490051" "128490051" "subst" "0.000165658" "02329" "FLNC_000272" "g.128490051G>A" "" "" "" "FLNC(NM_001458.4):c.5221G>A (p.(Glu1741Lys)), FLNC(NM_001458.5):c.5221G>A (p.E1741K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802920" "0" "30" "7" "128490114" "128490114" "subst" "0.000287931" "01943" "FLNC_000671" "g.128490114C>T" "" "" "" "FLNC(NM_001458.4):c.5284C>T (p.R1762C), FLNC(NM_001458.5):c.5284C>T (p.R1762C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802921" "0" "50" "7" "128490450" "128490450" "subst" "0.000247875" "01804" "FLNC_000274" "g.128490450C>G" "" "" "" "FLNC(NM_001127487.1):c.5212C>G (p.(Pro1738Ala)), FLNC(NM_001458.4):c.5311C>G (p.P1771A), FLNC(NM_001458.5):c.5311C>G (p.P1771A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802922" "0" "10" "7" "128490876" "128490876" "subst" "0.000191007" "02330" "FLNC_000277" "g.128490876G>A" "" "" "" "FLNC(NM_001458.4):c.5418G>A (p.S1806=), FLNC(NM_001458.5):c.5418G>A (p.S1806=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802923" "0" "50" "7" "128491530" "128491530" "subst" "0" "02330" "FLNC_000672" "g.128491530A>C" "" "" "" "FLNC(NM_001458.5):c.5690A>C (p.E1897A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802924" "0" "30" "7" "128491585" "128491585" "subst" "1.62442E-5" "02326" "FLNC_000673" "g.128491585C>T" "" "" "" "FLNC(NM_001458.4):c.5745C>T (p.T1915=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802925" "0" "50" "7" "128491631" "128491631" "subst" "4.46726E-5" "02325" "FLNC_000106" "g.128491631C>T" "" "" "" "FLNC(NM_001458.4):c.5791C>T (p.R1931C), FLNC(NM_001458.5):c.5791C>T (p.R1931C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802926" "0" "50" "7" "128493550" "128493552" "dup" "0" "02330" "FLNC_000674" "g.128493550_128493552dup" "" "" "" "FLNC(NM_001458.5):c.6236_6238dupAAG (p.E2079dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802927" "0" "30" "7" "128493623" "128493623" "subst" "0.00117394" "01804" "FLNC_000114" "g.128493623C>T" "" "" "" "FLNC(NM_001127487.1):c.6210C>T (p.(Thr2070=)), FLNC(NM_001458.4):c.6309C>T (p.T2103=), FLNC(NM_001458.5):c.6309C>T (p.T2103=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802928" "0" "50" "7" "128493795" "128493795" "subst" "8.12532E-6" "02330" "FLNC_000675" "g.128493795G>A" "" "" "" "FLNC(NM_001458.5):c.6388G>A (p.G2130S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802929" "0" "30" "7" "128494137" "128494137" "subst" "6.1407E-5" "02326" "FLNC_000419" "g.128494137C>T" "" "" "" "FLNC(NM_001458.4):c.6594C>T (p.G2198=), FLNC(NM_001458.5):c.6594C>T (p.G2198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802930" "0" "50" "7" "128494259" "128494259" "subst" "0" "02326" "FLNC_000423" "g.128494259G>A" "" "" "" "FLNC(NM_001458.4):c.6716G>A (p.R2239Q), FLNC(NM_001458.5):c.6716G>A (p.R2239Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802931" "0" "70" "7" "128494511" "128494511" "subst" "0" "01943" "FLNC_000676" "g.128494511T>C" "" "" "" "FLNC(NM_001458.4):c.6772T>C (p.S2258P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000802932" "0" "50" "7" "128496576" "128496576" "subst" "0.000181493" "02330" "FLNC_000568" "g.128496576C>T" "" "" "" "FLNC(NM_001458.5):c.7256C>T (p.T2419M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802933" "0" "50" "7" "128496702" "128496702" "subst" "2.04633E-5" "02326" "FLNC_000569" "g.128496702G>A" "" "" "" "FLNC(NM_001458.4):c.7382G>A (p.S2461N), FLNC(NM_001458.5):c.7382G>A (p.S2461N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802934" "0" "10" "7" "128496794" "128496794" "subst" "0.00223896" "02330" "FLNC_000677" "g.128496794C>T" "" "" "" "FLNC(NM_001458.5):c.7385-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802935" "0" "50" "7" "128497262" "128497262" "subst" "8.13464E-6" "02325" "FLNC_000439" "g.128497262A>G" "" "" "" "FLNC(NM_001458.5):c.7652A>G (p.D2551G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802936" "0" "30" "7" "128498135" "128498135" "subst" "0" "01943" "ATP6V1F_000017" "g.128498135C>T" "" "" "" "FLNC(NM_001458.4):c.7854C>T (p.S2618=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000819215" "1" "70" "7" "128490108" "128490108" "subst" "0.000185447" "00006" "FLNC_000530" "g.128490108G>A" "" "{PMID:Chakravorty 2020:33250842}" "" "" "" "Germline" "" "" "0" "" "" "g.128850054G>A" "" "likely pathogenic (recessive)" "ACMG" "0000819264" "2" "50" "7" "128492920" "128492920" "subst" "4.06223E-6" "00006" "FLNC_000678" "g.128492920G>C" "" "{PMID:Chakravorty 2020:33250842}" "" "" "" "Germline" "" "" "0" "" "" "g.128852866G>C" "" "VUS" "ACMG" "0000823963" "0" "50" "7" "128490502" "128490502" "subst" "9.7553E-5" "03501" "FLNC_000275" "g.128490502T>G" "" "{PMID:Karthikeyan 2024:39548682}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.128850448T>G" "" "VUS" "" "0000823969" "0" "50" "7" "128490102" "128490102" "subst" "0.000131219" "03501" "FLNC_000529" "g.128490102C>T" "" "{PMID:Karthikeyan 2024:39548682}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.128850048C>T" "" "VUS" "" "0000851402" "0" "30" "7" "128470666" "128470683" "dup" "0" "02327" "FLNC_000173" "g.128470666_128470683dup" "" "" "" "FLNC(NM_001458.5):c.-31_-14dupAGCCCCGGCCGCACCCCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851403" "0" "30" "7" "128470713" "128470713" "subst" "0.000124574" "01943" "FLNC_000679" "g.128470713T>C" "" "" "" "FLNC(NM_001458.4):c.22T>C (p.S8P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851404" "0" "50" "7" "128470962" "128470962" "subst" "0" "02327" "FLNC_000680" "g.128470962A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851405" "0" "50" "7" "128475394" "128475394" "subst" "0" "02325" "FLNC_000332" "g.128475394G>A" "" "" "" "FLNC(NM_001458.5):c.367G>A (p.V123M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851406" "0" "90" "7" "128475471" "128475471" "subst" "0" "02327" "FLNC_000681" "g.128475471G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000851407" "0" "30" "7" "128477316" "128477316" "subst" "0" "02327" "FLNC_000683" "g.128477316A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851408" "0" "50" "7" "128477745" "128477745" "subst" "2.92229E-5" "02325" "FLNC_000644" "g.128477745C>T" "" "" "" "FLNC(NM_001458.4):c.905C>T (p.T302M), FLNC(NM_001458.5):c.905C>T (p.T302M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851409" "0" "50" "7" "128477810" "128477810" "subst" "0" "02327" "FLNC_000685" "g.128477810G>A" "" "" "" "FLNC(NM_001127487.1):c.969+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851410" "0" "30" "7" "128478097" "128478097" "subst" "0.000333111" "02326" "FLNC_000686" "g.128478097C>T" "" "" "" "FLNC(NM_001458.4):c.1026C>T (p.P342=), FLNC(NM_001458.5):c.1026C>T (p.P342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851411" "0" "50" "7" "128478774" "128478774" "subst" "0" "01943" "FLNC_000687" "g.128478774C>T" "" "" "" "FLNC(NM_001458.4):c.1328C>T (p.A443V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851412" "0" "30" "7" "128478820" "128478820" "subst" "0.00358571" "01804" "FLNC_000027" "g.128478820C>T" "" "" "" "FLNC(NM_001127487.1):c.1374C>T (p.(=)), FLNC(NM_001458.4):c.1374C>T (p.P458=), FLNC(NM_001458.5):c.1374C>T (p.P458=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851413" "0" "30" "7" "128480201" "128480201" "subst" "8.1318E-6" "02327" "FLNC_000688" "g.128480201G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851414" "0" "10" "7" "128480737" "128480737" "subst" "0" "02330" "FLNC_000690" "g.128480737C>T" "" "" "" "FLNC(NM_001458.5):c.1676+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851415" "0" "30" "7" "128481030" "128481030" "subst" "0" "02327" "FLNC_000691" "g.128481030T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851416" "0" "50" "7" "128481259" "128481259" "subst" "4.87634E-5" "02326" "FLNC_000692" "g.128481259G>A" "" "" "" "FLNC(NM_001458.4):c.1849G>A (p.E617K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851417" "0" "30" "7" "128481279" "128481279" "subst" "0" "02327" "FLNC_000693" "g.128481279T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851418" "0" "50" "7" "128481367" "128481367" "subst" "0" "02330" "FLNC_000694" "g.128481367C>T" "" "" "" "FLNC(NM_001458.5):c.1957C>T (p.P653S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851419" "0" "30" "7" "128482288" "128482288" "subst" "0.00108005" "02327" "FLNC_000042" "g.128482288G>A" "" "" "" "FLNC(NM_001127487.1):c.2125G>A (p.(Ala709Thr)), FLNC(NM_001458.4):c.2125G>A (p.A709T), FLNC(NM_001458.5):c.2125G>A (p.A709T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851420" "0" "30" "7" "128482327" "128482327" "subst" "2.44008E-5" "02327" "FLNC_000220" "g.128482327G>A" "" "" "" "FLNC(NM_001458.5):c.2164G>A (p.G722S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851421" "0" "10" "7" "128483300" "128483300" "subst" "0.00050531" "02327" "FLNC_000696" "g.128483300C>T" "" "" "" "FLNC(NM_001458.5):c.2568C>T (p.P856=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851422" "0" "50" "7" "128483459" "128483459" "subst" "0" "02330" "FLNC_000697" "g.128483459C>T" "" "" "" "FLNC(NM_001458.5):c.2642-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851423" "0" "30" "7" "128484242" "128484242" "subst" "4.08741E-6" "02327" "FLNC_000699" "g.128484242G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851424" "0" "30" "7" "128484761" "128484761" "subst" "0.000146457" "02327" "FLNC_000700" "g.128484761C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851425" "0" "50" "7" "128484766" "128484766" "subst" "0" "02327" "FLNC_000701" "g.128484766T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851426" "0" "30" "7" "128485020" "128485020" "subst" "3.65919E-5" "02327" "FLNC_000702" "g.128485020C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851427" "0" "50" "7" "128485037" "128485037" "subst" "0" "01943" "FLNC_000703" "g.128485037C>T" "" "" "" "FLNC(NM_001458.4):c.3518C>T (p.A1173V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851428" "0" "50" "7" "128486100" "128486100" "subst" "8.95386E-5" "02330" "FLNC_000704" "g.128486100A>G" "" "" "" "FLNC(NM_001458.5):c.3847A>G (p.T1283A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851429" "0" "50" "7" "128486211" "128486211" "subst" "1.62821E-5" "02330" "FLNC_000705" "g.128486211G>A" "" "" "" "FLNC(NM_001458.5):c.3958G>A (p.E1320K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851430" "0" "50" "7" "128486830" "128486830" "subst" "0" "02325" "FLNC_000706" "g.128486830A>C" "" "" "" "FLNC(NM_001458.5):c.4159A>C (p.I1387L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851431" "0" "50" "7" "128487829" "128487829" "subst" "8.13021E-6" "02326" "FLNC_000707" "g.128487829G>C" "" "" "" "FLNC(NM_001458.4):c.4367G>C (p.G1456A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851432" "0" "30" "7" "128487860" "128487860" "subst" "0" "02327" "FLNC_000708" "g.128487860A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851433" "0" "30" "7" "128488762" "128488762" "subst" "4.0701E-6" "02327" "FLNC_000089" "g.128488762C>T" "" "" "" "FLNC(NM_001458.4):c.4728C>T (p.V1576=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851434" "0" "30" "7" "128489023" "128489023" "subst" "2.9099E-5" "02327" "FLNC_000264" "g.128489023G>A" "" "" "" "FLNC(NM_001458.4):c.4914G>A (p.K1638=), FLNC(NM_001458.5):c.4914G>A (p.K1638=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851435" "0" "30" "7" "128490103" "128490103" "subst" "0" "02327" "FLNC_000098" "g.128490103G>A" "" "" "" "FLNC(NM_001458.4):c.5273G>A (p.R1758Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851436" "0" "30" "7" "128490111" "128490111" "subst" "8.62726E-5" "02327" "FLNC_000711" "g.128490111G>A" "" "" "" "FLNC(NM_001458.4):c.5281G>A (p.(Ala1761Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851437" "0" "50" "7" "128490451" "128490451" "subst" "0" "02327" "FLNC_000712" "g.128490451C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851438" "0" "30" "7" "128490885" "128490885" "subst" "2.84423E-5" "02327" "FLNC_000713" "g.128490885G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851439" "0" "50" "7" "128490926" "128490926" "subst" "4.46791E-5" "02327" "FLNC_000279" "g.128490926C>T" "" "" "" "FLNC(NM_001127487.1):c.5369C>T (p.(Thr1790Met)), FLNC(NM_001458.4):c.5468C>T (p.T1823M), FLNC(NM_001458.5):c.5468C>T (p.T1823M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851440" "0" "50" "7" "128492756" "128492756" "subst" "0.00021168" "02325" "FLNC_000412" "g.128492756C>T" "" "" "" "FLNC(NM_001127487.1):c.5855C>T (p.(Ser1952Leu)), FLNC(NM_001458.4):c.5954C>T (p.S1985L), FLNC(NM_001458.5):c.5954C>T (p.S1985L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851441" "0" "30" "7" "128492892" "128492892" "subst" "8.12572E-6" "02330" "FLNC_000715" "g.128492892C>T" "" "" "" "FLNC(NM_001458.5):c.6015C>T (p.F2005=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851442" "0" "30" "7" "128492997" "128492997" "subst" "0.00128006" "02327" "FLNC_000289" "g.128492997C>T" "" "" "" "FLNC(NM_001458.5):c.6120C>T (p.D2040=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851443" "0" "30" "7" "128493520" "128493520" "subst" "2.03414E-5" "02325" "FLNC_000716" "g.128493520C>G" "" "" "" "FLNC(NM_001458.5):c.6209-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851444" "0" "30" "7" "128493593" "128493593" "subst" "0.000121866" "01943" "FLNC_000717" "g.128493593C>T" "" "" "" "FLNC(NM_001458.4):c.6279C>T (p.D2093=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851445" "0" "50" "7" "128493669" "128493669" "subst" "1.21852E-5" "02330" "FLNC_000718" "g.128493669G>A" "" "" "" "FLNC(NM_001458.5):c.6355G>A (p.V2119M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851446" "0" "50" "7" "128493797" "128493797" "subst" "3.25021E-5" "01943" "FLNC_000719" "g.128493797C>T" "" "" "" "FLNC(NM_001458.4):c.6390C>T (p.G2130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851447" "0" "30" "7" "128493887" "128493887" "subst" "0" "01804" "FLNC_000720" "g.128493887C>T" "" "" "" "FLNC(NM_001127487.1):c.6381C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851448" "0" "50" "7" "128494147" "128494147" "subst" "4.09635E-6" "02327" "FLNC_000721" "g.128494147A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851449" "0" "50" "7" "128494150" "128494150" "subst" "8.20614E-6" "02327" "FLNC_000722" "g.128494150C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851450" "0" "10" "7" "128494152" "128494152" "subst" "1.64182E-5" "02330" "FLNC_000723" "g.128494152C>T" "" "" "" "FLNC(NM_001458.5):c.6609C>T (p.R2203=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851451" "0" "50" "7" "128494186" "128494186" "subst" "0" "02327" "FLNC_000724" "g.128494186G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851452" "0" "30" "7" "128494257" "128494257" "subst" "0.000336084" "01943" "FLNC_000299" "g.128494257C>T" "" "" "" "FLNC(NM_001458.4):c.6714C>T (p.T2238=), FLNC(NM_001458.5):c.6714C>T (p.T2238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851453" "0" "30" "7" "128494510" "128494510" "subst" "0.00228283" "02326" "FLNC_000120" "g.128494510A>G" "" "" "" "FLNC(NM_001127487.1):c.6672A>G (p.(Pro2224=)), FLNC(NM_001458.4):c.6771A>G (p.P2257=), FLNC(NM_001458.5):c.6771A>G (p.P2257=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851454" "0" "10" "7" "128494528" "128494528" "subst" "0" "02330" "FLNC_000726" "g.128494528C>T" "" "" "" "FLNC(NM_001458.5):c.6789C>T (p.A2263=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851455" "0" "50" "7" "128494616" "128494616" "subst" "0" "02327" "FLNC_000125" "g.128494616C>T" "" "" "" "FLNC(NM_001458.5):c.6877C>T (p.R2293C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851456" "0" "50" "7" "128494697" "128494697" "subst" "0" "02327" "FLNC_000629" "g.128494697G>A" "" "" "" "FLNC(NM_001458.4):c.6958G>A (p.G2320R, p.(Gly2320Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851457" "0" "10" "7" "128494730" "128494730" "subst" "0.000336432" "02330" "FLNC_000727" "g.128494730G>A" "" "" "" "FLNC(NM_001458.5):c.6991G>A (p.V2331M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851458" "0" "10" "7" "128494922" "128494922" "subst" "0.00173517" "02327" "FLNC_000129" "g.128494922G>A" "" "" "" "FLNC(NM_001127487.1):c.6992G>A (p.(Arg2331His)), FLNC(NM_001458.4):c.7091G>A (p.R2364H), FLNC(NM_001458.5):c.7091G>A (p.R2364H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851459" "0" "50" "7" "128494939" "128494939" "subst" "3.65631E-5" "02327" "FLNC_000130" "g.128494939G>A" "" "" "" "FLNC(NM_001458.4):c.7108G>A (p.G2370S), FLNC(NM_001458.5):c.7108G>A (p.G2370S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851460" "0" "30" "7" "128495247" "128495247" "subst" "0.00021933" "02326" "FLNC_000312" "g.128495247C>A" "" "" "" "FLNC(NM_001458.4):c.7136-6C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851461" "0" "30" "7" "128496657" "128496657" "subst" "0" "02327" "FLNC_000728" "g.128496657C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851462" "0" "30" "7" "128497215" "128497215" "subst" "3.70526E-5" "01943" "FLNC_000323" "g.128497215G>A" "" "" "" "FLNC(NM_001458.4):c.7605G>A (p.S2535=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851463" "0" "30" "7" "128498058" "128498058" "subst" "0" "02327" "ATP6V1F_000018" "g.128498058T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851464" "0" "30" "7" "128498143" "128498143" "subst" "0.000384119" "02325" "ATP6V1F_000002" "g.128498143G>A" "" "" "" "FLNC(NM_001458.4):c.7862G>A (p.R2621Q), FLNC(NM_001458.5):c.7862G>A (p.R2621Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851465" "0" "30" "7" "128498280" "128498280" "subst" "0.000386919" "02327" "ATP6V1F_000003" "g.128498280C>T" "" "" "" "FLNC(NM_001458.4):c.7990+9C>T, FLNC(NM_001458.5):c.7990+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851466" "0" "30" "7" "128498402" "128498402" "subst" "0.000590092" "02326" "FLNC_000141" "g.128498402T>C" "" "" "" "FLNC(NM_001458.4):c.8003T>C (p.M2668T), FLNC(NM_001458.5):c.8003T>C (p.M2668T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860617" "0" "10" "7" "128475624" "128475624" "subst" "0.00187891" "01804" "FLNC_000014" "g.128475624C>T" "" "" "" "FLNC(NM_001127487.1):c.597C>T (p.(Ala199=)), FLNC(NM_001458.4):c.597C>T (p.A199=), FLNC(NM_001458.5):c.597C>T (p.A199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860618" "0" "10" "7" "128475647" "128475647" "subst" "0" "02330" "FLNC_000682" "g.128475647A>G" "" "" "" "FLNC(NM_001458.5):c.601+19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860619" "0" "10" "7" "128477589" "128477589" "subst" "8.12341E-6" "02330" "FLNC_000684" "g.128477589C>T" "" "" "" "FLNC(NM_001458.5):c.837C>T (p.I279=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860620" "0" "50" "7" "128480656" "128480656" "subst" "0" "02330" "FLNC_000689" "g.128480656G>T" "" "" "" "FLNC(NM_001458.5):c.1604G>T (p.C535F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860621" "0" "30" "7" "128480697" "128480697" "subst" "4.06108E-5" "02326" "FLNC_000209" "g.128480697A>G" "" "" "" "FLNC(NM_001127487.1):c.1645A>G (p.(Ile549Val)), FLNC(NM_001458.4):c.1645A>G (p.I549V), FLNC(NM_001458.5):c.1645A>G (p.I549V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860622" "0" "50" "7" "128481568" "128481568" "subst" "0.000162433" "01943" "FLNC_000040" "g.128481568T>C" "" "" "" "FLNC(NM_001127487.1):c.2068T>C (p.(Phe690Leu)), FLNC(NM_001458.4):c.2068T>C (p.F690L), FLNC(NM_001458.5):c.2068T>C (p.F690L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860623" "0" "50" "7" "128482683" "128482683" "subst" "0" "02330" "FLNC_000695" "g.128482683G>T" "" "" "" "FLNC(NM_001458.5):c.2320G>T (p.V774L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860624" "0" "50" "7" "128482949" "128482949" "subst" "2.03219E-5" "01804" "FLNC_000367" "g.128482949G>A" "" "" "" "FLNC(NM_001127487.1):c.2491G>A (p.(Val831Ile)), FLNC(NM_001458.5):c.2491G>A (p.V831I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860625" "0" "10" "7" "128484173" "128484173" "subst" "1.62873E-5" "02330" "FLNC_000698" "g.128484173G>A" "" "" "" "FLNC(NM_001458.5):c.3045G>A (p.L1015=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860626" "0" "30" "7" "128485143" "128485143" "subst" "0.0219506" "01804" "FLNC_000238" "g.128485143G>A" "" "" "" "FLNC(NM_001127487.1):c.3624G>A (p.(=)), FLNC(NM_001458.5):c.3624G>A (p.A1208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860627" "0" "10" "7" "128487931" "128487931" "subst" "0.000930673" "01804" "FLNC_000252" "g.128487931C>T" "" "" "" "FLNC(NM_001127487.1):c.4456+13C>T (p.(=)), FLNC(NM_001458.5):c.4456+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860628" "0" "30" "7" "128488684" "128488684" "subst" "3.25759E-5" "01804" "FLNC_000709" "g.128488684C>T" "" "" "" "FLNC(NM_001127487.1):c.4650C>T (p.(=)), FLNC(NM_001458.5):c.4650C>T (p.N1550=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860629" "0" "50" "7" "128488889" "128488889" "subst" "0" "02330" "FLNC_000710" "g.128488889G>A" "" "" "" "FLNC(NM_001458.5):c.4780G>A (p.G1594R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860630" "0" "30" "7" "128489254" "128489254" "subst" "0.00130302" "01804" "FLNC_000095" "g.128489254C>T" "" "" "" "FLNC(NM_001127487.1):c.4947C>T (p.(Gly1649=)), FLNC(NM_001458.4):c.4947C>T (p.G1649=), FLNC(NM_001458.5):c.4947C>T (p.G1649=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860631" "0" "30" "7" "128489557" "128489557" "subst" "2.84349E-5" "02330" "FLNC_000653" "g.128489557G>A" "" "" "" "FLNC(NM_001458.4):c.5124G>A (p.A1708=), FLNC(NM_001458.5):c.5124G>A (p.A1708=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860632" "0" "30" "7" "128490111" "128490111" "subst" "8.62726E-5" "01804" "FLNC_000711" "g.128490111G>A" "" "" "" "FLNC(NM_001458.4):c.5281G>A (p.(Ala1761Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860633" "0" "30" "7" "128491525" "128491525" "subst" "4.0619E-6" "01804" "FLNC_000714" "g.128491525C>T" "" "" "" "FLNC(NM_001127487.1):c.5586C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860634" "0" "30" "7" "128491606" "128491606" "subst" "0.000881211" "01804" "FLNC_000105" "g.128491606G>A" "" "" "" "FLNC(NM_001127487.1):c.5667G>A (p.(Ala1889=)), FLNC(NM_001458.4):c.5766G>A (p.A1922=), FLNC(NM_001458.5):c.5766G>A (p.A1922=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860635" "0" "50" "7" "128491631" "128491631" "subst" "4.46726E-5" "02330" "FLNC_000106" "g.128491631C>T" "" "" "" "FLNC(NM_001458.4):c.5791C>T (p.R1931C), FLNC(NM_001458.5):c.5791C>T (p.R1931C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860636" "0" "50" "7" "128492756" "128492756" "subst" "0.00021168" "01804" "FLNC_000412" "g.128492756C>T" "" "" "" "FLNC(NM_001127487.1):c.5855C>T (p.(Ser1952Leu)), FLNC(NM_001458.4):c.5954C>T (p.S1985L), FLNC(NM_001458.5):c.5954C>T (p.S1985L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860637" "0" "50" "7" "128494258" "128494258" "subst" "4.62492E-5" "01943" "FLNC_000725" "g.128494258C>T" "" "" "" "FLNC(NM_001458.4):c.6715C>T (p.R2239W), FLNC(NM_001458.5):c.6715C>T (p.R2239W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860638" "0" "30" "7" "128494263" "128494263" "subst" "5.47871E-5" "01804" "FLNC_000301" "g.128494263G>A" "" "" "" "FLNC(NM_001127487.1):c.6621G>A (p.(Gln2207=)), FLNC(NM_001458.4):c.6720G>A (p.Q2240=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860639" "0" "10" "7" "128494824" "128494824" "subst" "0.000296654" "02330" "FLNC_000428" "g.128494824C>T" "" "" "" "FLNC(NM_001458.4):c.6998-5C>T, FLNC(NM_001458.5):c.6998-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860640" "0" "50" "7" "128496654" "128496654" "subst" "0" "01804" "FLNC_000315" "g.128496654A>G" "" "" "" "FLNC(NM_001127487.1):c.7235A>G (p.(His2412Arg)), FLNC(NM_001458.4):c.7334A>G (p.H2445R), FLNC(NM_001458.5):c.7334A>G (p.H2445R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860641" "0" "30" "7" "128496872" "128496872" "subst" "6.90378E-5" "02330" "FLNC_000729" "g.128496872C>T" "" "" "" "FLNC(NM_001458.5):c.7458C>T (p.H2486=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860642" "0" "30" "7" "128498371" "128498371" "subst" "0.000359063" "01804" "FLNC_000140" "g.128498371C>T" "" "" "" "FLNC(NM_001127487.1):c.7892-19C>T (p.(=)), FLNC(NM_001458.4):c.7991-19C>T, FLNC(NM_001458.5):c.7991-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860643" "0" "10" "7" "128498402" "128498402" "subst" "0.000590092" "02330" "FLNC_000141" "g.128498402T>C" "" "" "" "FLNC(NM_001458.4):c.8003T>C (p.M2668T), FLNC(NM_001458.5):c.8003T>C (p.M2668T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860644" "0" "30" "7" "128498517" "128498517" "subst" "0.00951282" "01804" "FLNC_000142" "g.128498517C>T" "" "" "" "FLNC(NM_001127487.1):c.8019C>T (p.(Leu2673=)), FLNC(NM_001458.5):c.8118C>T (p.L2706=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860645" "0" "30" "7" "128498520" "128498520" "subst" "0.00934982" "01804" "ATP6V1F_000006" "g.128498520T>C" "" "" "" "FLNC(NM_001127487.1):c.8022T>C (p.(Ile2674=)), FLNC(NM_001458.5):c.8121T>C (p.I2707=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000878833" "0" "77" "7" "128494502" "128494503" "dup" "0" "04384" "FLNC_000730" "g.128494502_128494503dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.128854448_128854449dup" "" "pathogenic" "" "0000878863" "0" "70" "7" "128483285" "128483285" "subst" "0" "04384" "FLNC_000731" "g.128483285G>T" "" "" "beatrice.alessandrini" "" "" "Unknown" "" "" "" "" "" "" "" "VUS" "" "0000878871" "0" "70" "7" "128484081" "128484081" "subst" "4.06306E-6" "04384" "FLNC_000732" "g.128484081G>A" "" "" "beatrice.alessandrini" "" "" "Unknown" "" "" "" "" "" "" "" "VUS" "" "0000878881" "0" "70" "7" "128483285" "128483285" "subst" "0" "04384" "FLNC_000731" "g.128483285G>T" "" "" "beatrice.alessandrini" "" "" "Unknown" "" "" "" "" "" "" "" "VUS" "" "0000878906" "0" "70" "7" "128494151" "128494151" "subst" "2.05123E-5" "04384" "FLNC_000733" "g.128494151G>A" "" "" "beatrice.alessandrini" "" "" "Unknown" "" "" "" "" "" "" "" "VUS" "" "0000887581" "0" "50" "7" "128471041" "128471041" "subst" "0" "02325" "FLNC_000734" "g.128471041T>A" "" "" "" "FLNC(NM_001458.5):c.350T>A (p.I117K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887582" "0" "10" "7" "128475507" "128475507" "subst" "3.66053E-5" "02330" "FLNC_000735" "g.128475507G>A" "" "" "" "FLNC(NM_001458.5):c.480G>A (p.T160=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887583" "0" "50" "7" "128475517" "128475517" "subst" "4.06918E-6" "02327" "FLNC_000736" "g.128475517C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887584" "0" "50" "7" "128475596" "128475596" "subst" "0" "02325" "FLNC_000737" "g.128475596C>T" "" "" "" "FLNC(NM_001458.5):c.569C>T (p.A190V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887585" "0" "50" "7" "128477606" "128477606" "subst" "4.0618E-6" "02326" "FLNC_000337" "g.128477606T>G" "" "" "" "FLNC(NM_001458.4):c.850+4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887586" "0" "10" "7" "128478030" "128478030" "subst" "0" "02330" "FLNC_000738" "g.128478030C>T" "" "" "" "FLNC(NM_001458.5):c.970-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887587" "0" "10" "7" "128478139" "128478139" "dup" "0" "02330" "FLNC_000739" "g.128478139dup" "" "" "" "FLNC(NM_001458.5):c.1047+21dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887588" "0" "30" "7" "128478381" "128478381" "subst" "9.74611E-5" "02327" "FLNC_000025" "g.128478381A>G" "" "" "" "FLNC(NM_001458.4):c.1108A>G (p.M370V), FLNC(NM_001458.5):c.1108A>G (p.M370V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887589" "0" "30" "7" "128478415" "128478415" "subst" "8.12222E-5" "02325" "FLNC_000192" "g.128478415G>A" "" "" "" "FLNC(NM_001458.4):c.1142G>A (p.R381H), FLNC(NM_001458.5):c.1142G>A (p.R381H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887590" "0" "30" "7" "128478416" "128478416" "subst" "0" "02327" "FLNC_000740" "g.128478416T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887591" "0" "50" "7" "128478478" "128478478" "subst" "3.25185E-5" "02330" "FLNC_000741" "g.128478478C>T" "" "" "" "FLNC(NM_001458.5):c.1205C>T (p.T402I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887592" "0" "10" "7" "128478642" "128478642" "subst" "0" "02330" "FLNC_000742" "g.128478642C>T" "" "" "" "FLNC(NM_001458.5):c.1211-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887593" "0" "10" "7" "128478820" "128478820" "subst" "0.00358571" "02326" "FLNC_000027" "g.128478820C>T" "" "" "" "FLNC(NM_001127487.1):c.1374C>T (p.(=)), FLNC(NM_001458.4):c.1374C>T (p.P458=), FLNC(NM_001458.5):c.1374C>T (p.P458=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887594" "0" "90" "7" "128480131" "128480137" "del" "0" "02325" "FLNC_000200" "g.128480131_128480137del" "" "" "" "FLNC(NM_001458.5):c.1466_1472delTTCGCGT (p.V489Gfs*33)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887595" "0" "10" "7" "128480177" "128480177" "subst" "0" "02330" "FLNC_000743" "g.128480177C>T" "" "" "" "FLNC(NM_001458.5):c.1512C>T (p.A504=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887596" "0" "30" "7" "128480652" "128480652" "subst" "0.000791878" "02327" "FLNC_000207" "g.128480652G>A" "" "" "" "FLNC(NM_001127487.1):c.1600G>A (p.(Glu534Lys)), FLNC(NM_001458.4):c.1600G>A (p.E534K), FLNC(NM_001458.5):c.1600G>A (p.E534K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887597" "0" "30" "7" "128480657" "128480657" "subst" "5.68542E-5" "02330" "FLNC_000034" "g.128480657C>T" "" "" "" "FLNC(NM_001458.4):c.1605C>T (p.C535=), FLNC(NM_001458.5):c.1605C>T (p.C535=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887598" "0" "50" "7" "128480657" "128480657" "subst" "5.68542E-5" "02325" "FLNC_000034" "g.128480657C>T" "" "" "" "FLNC(NM_001458.4):c.1605C>T (p.C535=), FLNC(NM_001458.5):c.1605C>T (p.C535=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887599" "0" "70" "7" "128480901" "128480901" "subst" "0" "02326" "FLNC_000598" "g.128480901C>T" "" "" "" "FLNC(NM_001458.4):c.1690C>T (p.Q564*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000887600" "0" "50" "7" "128481211" "128481211" "subst" "3.26155E-5" "01804" "FLNC_000744" "g.128481211C>A" "" "" "" "FLNC(NM_001458.4):c.1814-13C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887601" "0" "50" "7" "128481419" "128481419" "subst" "0" "02329" "FLNC_000745" "g.128481419T>G" "" "" "" "FLNC(NM_001458.5):c.2007+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887602" "0" "30" "7" "128481568" "128481568" "subst" "0.000162433" "01804" "FLNC_000040" "g.128481568T>C" "" "" "" "FLNC(NM_001127487.1):c.2068T>C (p.(Phe690Leu)), FLNC(NM_001458.4):c.2068T>C (p.F690L), FLNC(NM_001458.5):c.2068T>C (p.F690L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887603" "0" "30" "7" "128482288" "128482288" "subst" "0.00108005" "01804" "FLNC_000042" "g.128482288G>A" "" "" "" "FLNC(NM_001127487.1):c.2125G>A (p.(Ala709Thr)), FLNC(NM_001458.4):c.2125G>A (p.A709T), FLNC(NM_001458.5):c.2125G>A (p.A709T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887604" "0" "10" "7" "128482362" "128482362" "subst" "0.000130083" "02330" "FLNC_000045" "g.128482362C>G" "" "" "" "FLNC(NM_001458.4):c.2199C>G (p.T733=), FLNC(NM_001458.5):c.2199C>G (p.T733=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887605" "0" "50" "7" "128482411" "128482411" "subst" "0" "02327" "FLNC_000746" "g.128482411C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887606" "0" "50" "7" "128482417" "128482417" "subst" "4.07451E-6" "02330" "FLNC_000747" "g.128482417A>G" "" "" "" "FLNC(NM_001458.5):c.2254A>G (p.S752G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887607" "0" "90" "7" "128482433" "128482433" "subst" "8.17167E-6" "02325" "FLNC_000221" "g.128482433G>A" "" "" "" "FLNC(NM_001458.4):c.2265+5G>A (p.?), FLNC(NM_001458.5):c.2265+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887608" "0" "50" "7" "128482686" "128482688" "del" "0" "02330" "FLNC_000748" "g.128482686_128482688del" "" "" "" "FLNC(NM_001458.5):c.2323_2325delGAG (p.E775del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887609" "0" "90" "7" "128482874" "128482875" "dup" "0" "02330" "FLNC_000749" "g.128482874_128482875dup" "" "" "" "FLNC(NM_001458.5):c.2416_2417dupGC (p.G808Qfs*71)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887610" "0" "50" "7" "128482882" "128482882" "subst" "1.22016E-5" "01804" "FLNC_000750" "g.128482882C>T" "" "" "" "FLNC(NM_001458.4):c.2424C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887611" "0" "50" "7" "128483359" "128483359" "subst" "0" "02325" "FLNC_000058" "g.128483359G>T" "" "" "" "FLNC(NM_001458.4):c.2627G>T (p.G876V), FLNC(NM_001458.5):c.2627G>T (p.G876V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887612" "0" "50" "7" "128483367" "128483367" "subst" "0.000115322" "02325" "FLNC_000751" "g.128483367C>T" "" "" "" "FLNC(NM_001458.5):c.2635C>T (p.R879C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887613" "0" "30" "7" "128483846" "128483846" "subst" "4.06111E-6" "02325" "FLNC_000752" "g.128483846A>T" "" "" "" "FLNC(NM_001458.5):c.2812-4A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887614" "0" "50" "7" "128483849" "128483849" "subst" "0" "02330" "FLNC_000753" "g.128483849G>C" "" "" "" "FLNC(NM_001458.5):c.2812-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887615" "0" "50" "7" "128483880" "128483880" "subst" "2.97E-5" "02326" "FLNC_000754" "g.128483880G>A" "" "" "" "FLNC(NM_001458.4):c.2842G>A (p.G948R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887616" "0" "50" "7" "128484066" "128484066" "subst" "8.12632E-6" "02325" "FLNC_000755" "g.128484066G>C" "" "" "" "FLNC(NM_001458.5):c.2938G>C (p.V980L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887617" "0" "90" "7" "128484099" "128484099" "subst" "0" "02330" "FLNC_000490" "g.128484099C>T" "" "" "" "FLNC(NM_001458.4):c.2971C>T (p.R991*), FLNC(NM_001458.5):c.2971C>T (p.R991*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887618" "0" "50" "7" "128484120" "128484120" "subst" "0" "02326" "FLNC_000756" "g.128484120C>G" "" "" "" "FLNC(NM_001458.4):c.2992C>G (p.Q998E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887619" "0" "30" "7" "128484128" "128484128" "subst" "0.00103269" "02326" "FLNC_000372" "g.128484128T>C" "" "" "" "FLNC(NM_001458.4):c.3000T>C (p.D1000=), FLNC(NM_001458.5):c.3000T>C (p.D1000=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887620" "0" "50" "7" "128484267" "128484267" "subst" "0" "02325" "FLNC_000493" "g.128484267G>C" "" "" "" "FLNC(NM_001458.5):c.3139G>C (p.V1047L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887621" "0" "50" "7" "128484775" "128484775" "subst" "0" "02330" "FLNC_000624" "g.128484775G>A" "" "" "" "FLNC(NM_001458.4):c.3256G>A (p.D1086N), FLNC(NM_001458.5):c.3256G>A (p.D1086N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887622" "0" "50" "7" "128485179" "128485179" "subst" "0" "02330" "FLNC_000757" "g.128485179C>G" "" "" "" "FLNC(NM_001458.5):c.3660C>G (p.F1220L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887623" "0" "50" "7" "128485199" "128485199" "subst" "3.26065E-5" "01804" "FLNC_000758" "g.128485199C>T" "" "" "" "FLNC(NM_001127487.1):c.3680C>T (p.(Thr1227Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887624" "0" "50" "7" "128485314" "128485314" "subst" "0.000186434" "02325" "FLNC_000379" "g.128485314G>A" "" "" "" "FLNC(NM_001127487.1):c.3790+5G>A (p.?), FLNC(NM_001458.4):c.3790+5G>A, FLNC(NM_001458.5):c.3790+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887625" "0" "30" "7" "128485314" "128485314" "subst" "0.000186434" "02326" "FLNC_000379" "g.128485314G>A" "" "" "" "FLNC(NM_001127487.1):c.3790+5G>A (p.?), FLNC(NM_001458.4):c.3790+5G>A, FLNC(NM_001458.5):c.3790+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887626" "0" "10" "7" "128486030" "128486030" "subst" "8.17074E-6" "02330" "FLNC_000759" "g.128486030C>T" "" "" "" "FLNC(NM_001458.5):c.3791-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887627" "0" "90" "7" "128486091" "128486091" "dup" "0" "02330" "FLNC_000505" "g.128486091dup" "" "" "" "FLNC(NM_001458.5):c.3838dupC (p.L1280Pfs*52)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887628" "0" "50" "7" "128486191" "128486191" "subst" "0.000203343" "01804" "FLNC_000072" "g.128486191G>A" "" "" "" "FLNC(NM_001127487.1):c.3938G>A (p.(Arg1313Gln)), FLNC(NM_001458.4):c.3938G>A (p.R1313Q), FLNC(NM_001458.5):c.3938G>A (p.R1313Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887629" "0" "50" "7" "128486445" "128486445" "subst" "5.33189E-5" "02325" "FLNC_000639" "g.128486445G>A" "" "" "" "FLNC(NM_001458.5):c.4055G>A (p.R1352H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887630" "0" "30" "7" "128486526" "128486526" "subst" "0.000183478" "02326" "FLNC_000245" "g.128486526C>T" "" "" "" "FLNC(NM_001458.4):c.4127+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887631" "0" "10" "7" "128486940" "128486940" "subst" "2.84557E-5" "02330" "FLNC_000760" "g.128486940C>T" "" "" "" "FLNC(NM_001458.5):c.4269C>T (p.F1423=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887632" "0" "30" "7" "128487764" "128487764" "subst" "0.0021259" "02326" "FLNC_000080" "g.128487764C>T" "" "" "" "FLNC(NM_001458.4):c.4302C>T (p.R1434=), FLNC(NM_001458.5):c.4302C>T (p.R1434=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887633" "0" "50" "7" "128487796" "128487796" "subst" "2.0316E-5" "02330" "FLNC_000761" "g.128487796A>G" "" "" "" "FLNC(NM_001458.5):c.4334A>G (p.K1445R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887634" "0" "90" "7" "128487849" "128487849" "subst" "0" "02330" "FLNC_000584" "g.128487849C>T" "" "" "" "FLNC(NM_001458.5):c.4387C>T (p.Q1463*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887635" "0" "30" "7" "128487883" "128487883" "subst" "1.22188E-5" "02327" "FLNC_000762" "g.128487883G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887636" "0" "50" "7" "128488021" "128488021" "subst" "4.11909E-6" "02330" "FLNC_000763" "g.128488021G>A" "" "" "" "FLNC(NM_001458.5):c.4479G>A (p.V1493=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887637" "0" "50" "7" "128488745" "128488745" "subst" "2.03769E-5" "02330" "FLNC_000258" "g.128488745G>A" "" "" "" "FLNC(NM_001458.4):c.4711G>A (p.E1571K), FLNC(NM_001458.5):c.4711G>A (p.E1571K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887638" "0" "10" "7" "128488830" "128488830" "subst" "0" "02330" "FLNC_000764" "g.128488830C>T" "" "" "" "FLNC(NM_001458.5):c.4738-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887639" "0" "50" "7" "128489451" "128489451" "subst" "0" "02325" "FLNC_000765" "g.128489451C>T" "" "" "" "FLNC(NM_001458.5):c.5018C>T (p.A1673V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887640" "0" "50" "7" "128490093" "128490093" "subst" "7.25393E-5" "02330" "FLNC_000766" "g.128490093G>A" "" "" "" "FLNC(NM_001458.5):c.5263G>A (p.A1755T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887641" "0" "50" "7" "128490114" "128490114" "subst" "0.000287931" "02330" "FLNC_000671" "g.128490114C>T" "" "" "" "FLNC(NM_001458.4):c.5284C>T (p.R1762C), FLNC(NM_001458.5):c.5284C>T (p.R1762C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887642" "0" "30" "7" "128490136" "128490136" "subst" "0" "02330" "FLNC_000767" "g.128490136G>A" "" "" "" "FLNC(NM_001458.5):c.5298+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887643" "0" "30" "7" "128490141" "128490141" "subst" "7.323E-6" "02330" "FLNC_000768" "g.128490141C>G" "" "" "" "FLNC(NM_001458.5):c.5298+13C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887644" "0" "30" "7" "128490450" "128490450" "subst" "0.000247875" "02327" "FLNC_000274" "g.128490450C>G" "" "" "" "FLNC(NM_001127487.1):c.5212C>G (p.(Pro1738Ala)), FLNC(NM_001458.4):c.5311C>G (p.P1771A), FLNC(NM_001458.5):c.5311C>G (p.P1771A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887645" "0" "50" "7" "128492705" "128492705" "subst" "2.85111E-5" "02327" "FLNC_000284" "g.128492705A>C" "" "" "" "FLNC(NM_001458.4):c.5903A>C (p.K1968T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887646" "0" "50" "7" "128492764" "128492764" "subst" "4.06841E-6" "02330" "FLNC_000769" "g.128492764G>A" "" "" "" "FLNC(NM_001458.5):c.5962G>A (p.E1988K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887647" "0" "50" "7" "128492797" "128492797" "subst" "4.06659E-6" "02330" "FLNC_000770" "g.128492797C>T" "" "" "" "FLNC(NM_001458.5):c.5995C>T (p.R1999W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887648" "0" "50" "7" "128492971" "128492971" "subst" "8.12651E-6" "02330" "FLNC_000287" "g.128492971C>G" "" "" "" "FLNC(NM_001458.4):c.6094C>G (p.L2032V), FLNC(NM_001458.5):c.6094C>G (p.L2032V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887649" "0" "50" "7" "128493825" "128493825" "subst" "8.12572E-6" "02325" "FLNC_000771" "g.128493825C>T" "" "" "" "FLNC(NM_001458.5):c.6418C>T (p.R2140W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887650" "0" "50" "7" "128494081" "128494081" "subst" "3.28372E-5" "02325" "FLNC_000418" "g.128494081C>T" "" "" "" "FLNC(NM_001458.5):c.6538C>T (p.R2180C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887651" "0" "50" "7" "128494165" "128494165" "subst" "1.2293E-5" "02325" "FLNC_000772" "g.128494165G>A" "" "" "" "FLNC(NM_001458.5):c.6622G>A (p.E2208K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887652" "0" "50" "7" "128494259" "128494259" "subst" "0" "02330" "FLNC_000423" "g.128494259G>A" "" "" "" "FLNC(NM_001458.4):c.6716G>A (p.R2239Q), FLNC(NM_001458.5):c.6716G>A (p.R2239Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887653" "0" "50" "7" "128494556" "128494556" "subst" "0.000124378" "02330" "FLNC_000425" "g.128494556G>A" "" "" "" "FLNC(NM_001458.4):c.6817G>A (p.A2273T), FLNC(NM_001458.5):c.6817G>A (p.A2273T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887654" "0" "50" "7" "128494594" "128494594" "subst" "0" "02330" "FLNC_000773" "g.128494594C>G" "" "" "" "FLNC(NM_001458.5):c.6855C>G (p.P2285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887655" "0" "50" "7" "128494616" "128494616" "subst" "0" "02325" "FLNC_000125" "g.128494616C>T" "" "" "" "FLNC(NM_001458.5):c.6877C>T (p.R2293C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887656" "0" "50" "7" "128494831" "128494831" "subst" "0" "02330" "FLNC_000774" "g.128494831G>A" "" "" "" "FLNC(NM_001458.5):c.7000G>A (p.E2334K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887657" "0" "30" "7" "128495302" "128495302" "subst" "0.000662004" "02326" "FLNC_000434" "g.128495302C>T" "" "" "" "FLNC(NM_001458.4):c.7185C>T (p.S2395=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887658" "0" "50" "7" "128496609" "128496609" "subst" "9.86031E-5" "02330" "FLNC_000314" "g.128496609C>T" "" "" "" "FLNC(NM_001458.4):c.7289C>T (p.A2430V), FLNC(NM_001458.5):c.7289C>T (p.A2430V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887659" "0" "90" "7" "128496636" "128496637" "del" "0" "02330" "FLNC_000775" "g.128496636_128496637del" "" "" "" "FLNC(NM_001458.5):c.7316_7317delTG (p.V2439Dfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887660" "0" "90" "7" "128496636" "128496637" "del" "0" "02325" "FLNC_000775" "g.128496636_128496637del" "" "" "" "FLNC(NM_001458.5):c.7316_7317delTG (p.V2439Dfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887661" "0" "10" "7" "128496784" "128496784" "subst" "8.12929E-6" "02330" "FLNC_000776" "g.128496784A>C" "" "" "" "FLNC(NM_001458.5):c.7385-15A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887662" "0" "30" "7" "128497215" "128497215" "subst" "3.70526E-5" "02327" "FLNC_000323" "g.128497215G>A" "" "" "" "FLNC(NM_001458.4):c.7605G>A (p.S2535=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887663" "0" "30" "7" "128497224" "128497224" "subst" "0.00152757" "02326" "FLNC_000777" "g.128497224G>T" "" "" "" "FLNC(NM_001458.4):c.7614G>T (p.L2538F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887665" "0" "50" "7" "128498229" "128498229" "subst" "4.83529E-5" "02326" "ATP6V1F_000020" "g.128498229G>A" "" "" "" "FLNC(NM_001458.4):c.7948G>A (p.V2650M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887666" "0" "50" "7" "128498240" "128498242" "del" "0" "02325" "ATP6V1F_000021" "g.128498240_128498242del" "" "" "" "FLNC(NM_001458.5):c.7959_7961delGAA (p.K2653del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887667" "0" "30" "7" "128498243" "128498243" "subst" "0" "02327" "ATP6V1F_000022" "g.128498243C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887668" "0" "30" "7" "128498298" "128498298" "subst" "4.34825E-5" "02327" "ATP6V1F_000023" "g.128498298C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912638" "0" "30" "7" "128471053" "128471053" "subst" "0.00134992" "02326" "FLNC_000177" "g.128471053G>A" "" "" "" "FLNC(NM_001458.4):c.352+10G>A, FLNC(NM_001458.5):c.352+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912639" "0" "50" "7" "128477590" "128477590" "subst" "2.03089E-5" "02325" "FLNC_000778" "g.128477590G>A" "" "" "" "FLNC(NM_001458.5):c.838G>A (p.A280T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912640" "0" "50" "7" "128477783" "128477783" "subst" "1.48207E-5" "02327" "FLNC_000779" "g.128477783G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912641" "0" "10" "7" "128478371" "128478371" "subst" "0" "02330" "FLNC_000340" "g.128478371G>C" "" "" "" "FLNC(NM_001458.5):c.1098G>C (p.V366=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912642" "0" "50" "7" "128478755" "128478755" "subst" "3.66856E-5" "02327" "FLNC_000780" "g.128478755C>T" "" "" "" "FLNC(NM_001458.5):c.1309C>T (p.R437C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912643" "0" "50" "7" "128480100" "128480100" "subst" "3.65863E-5" "02330" "FLNC_000345" "g.128480100G>A" "" "" "" "FLNC(NM_001458.5):c.1435G>A (p.A479T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912644" "0" "30" "7" "128480981" "128480981" "subst" "3.87103E-5" "02326" "FLNC_000781" "g.128480981C>T" "" "" "" "FLNC(NM_001458.4):c.1770C>T (p.A590=), FLNC(NM_001458.5):c.1770C>T (p.A590=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912645" "0" "30" "7" "128481390" "128481390" "subst" "4.06375E-5" "01804" "FLNC_000782" "g.128481390C>T" "" "" "" "FLNC(NM_001127487.1):c.1980C>T (p.(Pro660=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912646" "0" "50" "7" "128482387" "128482387" "subst" "8.13345E-6" "02330" "FLNC_000783" "g.128482387A>G" "" "" "" "FLNC(NM_001458.5):c.2224A>G (p.I742V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912647" "0" "50" "7" "128483373" "128483373" "subst" "0" "02330" "FLNC_000784" "g.128483373G>C" "" "" "" "FLNC(NM_001458.5):c.2641G>C (p.G881R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912648" "0" "90" "7" "128483624" "128483625" "del" "0" "02325" "FLNC_000785" "g.128483624_128483625del" "" "" "" "FLNC(NM_001458.5):c.2804_2805delTC (p.V935Afs*40)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000912649" "0" "50" "7" "128483881" "128483881" "subst" "2.03135E-5" "02326" "FLNC_000786" "g.128483881G>A" "" "" "" "FLNC(NM_001458.4):c.2843G>A (p.G948E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912650" "0" "90" "7" "128483969" "128483969" "subst" "0" "02325" "FLNC_000787" "g.128483969T>C" "" "" "" "FLNC(NM_001458.5):c.2929+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000912651" "0" "50" "7" "128484288" "128484288" "subst" "4.11421E-6" "02327" "FLNC_000788" "g.128484288G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912652" "0" "50" "7" "128484901" "128484901" "subst" "6.0931E-5" "02330" "FLNC_000236" "g.128484901G>A" "" "" "" "FLNC(NM_001458.4):c.3382G>A (p.E1128K), FLNC(NM_001458.5):c.3382G>A (p.E1128K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912653" "0" "10" "7" "128485071" "128485071" "subst" "2.03412E-5" "02330" "FLNC_000789" "g.128485071C>G" "" "" "" "FLNC(NM_001458.5):c.3552C>G (p.G1184=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912654" "0" "30" "7" "128486051" "128486051" "subst" "2.44455E-5" "02326" "FLNC_000790" "g.128486051G>T" "" "" "" "FLNC(NM_001458.4):c.3798G>T (p.L1266=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912655" "0" "50" "7" "128486140" "128486140" "subst" "4.88234E-5" "02330" "FLNC_000791" "g.128486140C>T" "" "" "" "FLNC(NM_001458.5):c.3887C>T (p.S1296L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912656" "0" "10" "7" "128486226" "128486226" "subst" "0.00098802" "02326" "FLNC_000073" "g.128486226C>T" "" "" "" "FLNC(NM_001458.4):c.3964+9C>T, FLNC(NM_001458.5):c.3964+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912657" "0" "50" "7" "128488872" "128488872" "subst" "0.000158548" "02330" "FLNC_000261" "g.128488872C>G" "" "" "" "FLNC(NM_001458.4):c.4763C>G (p.A1588G), FLNC(NM_001458.5):c.4763C>G (p.A1588G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912658" "0" "30" "7" "128490450" "128490450" "subst" "0.000247875" "02325" "FLNC_000274" "g.128490450C>G" "" "" "" "FLNC(NM_001127487.1):c.5212C>G (p.(Pro1738Ala)), FLNC(NM_001458.4):c.5311C>G (p.P1771A), FLNC(NM_001458.5):c.5311C>G (p.P1771A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912659" "0" "50" "7" "128490909" "128490911" "del" "0" "02330" "FLNC_000792" "g.128490909_128490911del" "" "" "" "FLNC(NM_001458.5):c.5451_5453delCAA (p.N1817del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912660" "0" "30" "7" "128492871" "128492871" "subst" "4.87591E-5" "01804" "FLNC_000793" "g.128492871A>T" "" "" "" "FLNC(NM_001127487.1):c.5906-11A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912661" "0" "70" "7" "128494026" "128494026" "subst" "0" "02326" "FLNC_000794" "g.128494026A>T" "" "" "" "FLNC(NM_001458.4):c.6485-2A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000912662" "0" "50" "7" "128494259" "128494259" "subst" "0" "02327" "FLNC_000300" "g.128494259G>T" "" "" "" "FLNC(NM_001458.4):c.6716G>T (p.R2239L), FLNC(NM_001458.5):c.6716G>T (p.R2239L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912663" "0" "30" "7" "128494922" "128494922" "subst" "0.00173517" "02325" "FLNC_000129" "g.128494922G>A" "" "" "" "FLNC(NM_001127487.1):c.6992G>A (p.(Arg2331His)), FLNC(NM_001458.4):c.7091G>A (p.R2364H), FLNC(NM_001458.5):c.7091G>A (p.R2364H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912664" "0" "50" "7" "128495331" "128495331" "subst" "0" "02327" "FLNC_000795" "g.128495331C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912665" "0" "50" "7" "128498088" "128498088" "subst" "0" "02325" "ATP6V1F_000024" "g.128498088C>A" "" "" "" "FLNC(NM_001458.5):c.7807C>A (p.L2603I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000917132" "1" "70" "7" "128475394" "128475394" "subst" "0" "00006" "FLNC_000332" "g.128475394G>A" "" "{PMID:Cavdarli 2023:36575883}" "" "" "ACMG PM1 PM2 PP3 PM5" "Germline" "" "rs771153026" "0" "" "" "g.128835340G>A" "" "likely pathogenic (dominant)" "ACMG" "0000917158" "0" "50" "7" "128498233" "128498233" "subst" "4.46257E-6" "00006" "FLNC_000797" "g.128498233G>T" "" "{PMID:Cavdarli 2023:36575883}" "" "" "" "Germline" "" "" "0" "" "" "g.128858179G>T" "" "VUS" "" "0000917161" "0" "50" "7" "128490439" "128490439" "subst" "0" "00006" "FLNC_000402" "g.128490439C>T" "" "{PMID:Cavdarli 2023:36575883}" "" "" "" "Germline" "" "" "0" "" "" "g.128850385C>T" "" "VUS" "" "0000917162" "21" "50" "7" "128488022" "128488022" "subst" "4.9545E-5" "00006" "FLNC_000796" "g.128488022C>T" "" "{PMID:Cavdarli 2023:36575883}" "" "" "" "Germline" "" "rs779079128" "0" "" "" "g.128847968C>T" "" "VUS" "" "0000924627" "0" "50" "7" "128470802" "128470802" "subst" "0" "02325" "FLNC_000798" "g.128470802C>G" "" "" "" "FLNC(NM_001458.5):c.111C>G (p.I37M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924628" "0" "30" "7" "128477331" "128477331" "subst" "0" "02326" "FLNC_000799" "g.128477331A>T" "" "" "" "FLNC(NM_001458.4):c.699+20A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924629" "0" "30" "7" "128477687" "128477687" "subst" "1.22884E-5" "01804" "FLNC_000800" "g.128477687G>C" "" "" "" "FLNC(NM_001127487.1):c.851-4G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924630" "0" "50" "7" "128477810" "128477810" "subst" "0" "01804" "FLNC_000685" "g.128477810G>A" "" "" "" "FLNC(NM_001127487.1):c.969+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924631" "0" "10" "7" "128480981" "128480981" "subst" "3.87103E-5" "02330" "FLNC_000781" "g.128480981C>T" "" "" "" "FLNC(NM_001458.4):c.1770C>T (p.A590=), FLNC(NM_001458.5):c.1770C>T (p.A590=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924632" "0" "50" "7" "128481232" "128481232" "subst" "8.13398E-6" "02330" "FLNC_000801" "g.128481232A>G" "" "" "" "FLNC(NM_001458.5):c.1822A>G (p.I608V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924633" "0" "50" "7" "128482357" "128482357" "subst" "0" "02327" "FLNC_000802" "g.128482357C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924634" "0" "50" "7" "128482427" "128482427" "subst" "2.04095E-5" "02327" "FLNC_000803" "g.128482427G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924635" "0" "10" "7" "128482849" "128482849" "subst" "1.22437E-5" "02330" "FLNC_000804" "g.128482849C>A" "" "" "" "FLNC(NM_001458.5):c.2391C>A (p.G797=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924636" "0" "50" "7" "128482976" "128482976" "subst" "1.62608E-5" "02327" "FLNC_000805" "g.128482976C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924637" "0" "50" "7" "128483582" "128483582" "subst" "4.08487E-6" "02330" "FLNC_000806" "g.128483582T>C" "" "" "" "FLNC(NM_001458.5):c.2762T>C (p.I921T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924638" "0" "50" "7" "128484111" "128484111" "subst" "8.12916E-6" "02327" "FLNC_000233" "g.128484111G>A" "" "" "" "FLNC(NM_001458.4):c.2983G>A (p.G995S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924639" "0" "50" "7" "128484273" "128484273" "subst" "0.000159912" "02330" "FLNC_000807" "g.128484273G>T" "" "" "" "FLNC(NM_001458.5):c.3145G>T (p.G1049C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924640" "0" "50" "7" "128484274" "128484274" "subst" "0.000159949" "02330" "FLNC_000808" "g.128484274G>T" "" "" "" "FLNC(NM_001458.5):c.3146G>T (p.G1049V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924641" "0" "10" "7" "128484281" "128484281" "subst" "6.57322E-5" "02330" "FLNC_000065" "g.128484281G>A" "" "" "" "FLNC(NM_001458.4):c.3153G>A (p.P1051=), FLNC(NM_001458.5):c.3153G>A (p.P1051=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924642" "0" "50" "7" "128484787" "128484787" "subst" "2.84541E-5" "02325" "FLNC_000809" "g.128484787G>T" "" "" "" "FLNC(NM_001458.5):c.3268G>T (p.A1090S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924643" "0" "50" "7" "128484995" "128484995" "subst" "6.50385E-5" "02330" "FLNC_000810" "g.128484995G>A" "" "" "" "FLNC(NM_001458.5):c.3476G>A (p.R1159Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924644" "0" "50" "7" "128485136" "128485136" "subst" "1.21904E-5" "02325" "FLNC_000811" "g.128485136A>G" "" "" "" "FLNC(NM_001458.5):c.3617A>G (p.N1206S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924645" "0" "10" "7" "128485284" "128485284" "subst" "0.00144092" "02330" "FLNC_000069" "g.128485284C>A" "" "" "" "FLNC(NM_001458.4):c.3765C>A (p.V1255=), FLNC(NM_001458.5):c.3765C>A (p.V1255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924646" "0" "50" "7" "128488624" "128488624" "subst" "0" "02327" "FLNC_000812" "g.128488624G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924647" "0" "50" "7" "128488899" "128488899" "subst" "8.14279E-6" "02327" "FLNC_000392" "g.128488899C>T" "" "" "" "FLNC(NM_001458.5):c.4790C>T (p.T1597M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924648" "0" "50" "7" "128488989" "128488989" "subst" "0" "02325" "FLNC_000093" "g.128488989G>T" "" "" "" "FLNC(NM_001458.4):c.4880G>T (p.R1627L), FLNC(NM_001458.5):c.4880G>T (p.R1627L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924649" "0" "10" "7" "128490012" "128490012" "subst" "0.000231758" "02330" "FLNC_000813" "g.128490012C>T" "" "" "" "FLNC(NM_001458.5):c.5200-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924650" "0" "50" "7" "128491325" "128491325" "subst" "1.62471E-5" "02330" "FLNC_000814" "g.128491325G>A" "" "" "" "FLNC(NM_001458.5):c.5579G>A (p.R1860H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924651" "0" "30" "7" "128491433" "128491433" "subst" "4.06306E-5" "02330" "FLNC_000815" "g.128491433G>A" "" "" "" "FLNC(NM_001458.5):c.5668+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924652" "0" "70" "7" "128494628" "128494628" "subst" "0" "02330" "FLNC_000550" "g.128494628G>A" "" "" "" "FLNC(NM_001458.5):c.6889G>A (p.V2297M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000924653" "0" "10" "7" "128494973" "128494973" "subst" "2.43986E-5" "02330" "FLNC_000311" "g.128494973G>A" "" "" "" "FLNC(NM_001458.4):c.7135+7G>A, FLNC(NM_001458.5):c.7135+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924654" "0" "50" "7" "128495343" "128495343" "subst" "2.03193E-5" "02325" "FLNC_000816" "g.128495343G>A" "" "" "" "FLNC(NM_001458.5):c.7226G>A (p.R2409H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924655" "0" "50" "7" "128495346" "128495346" "subst" "1.2191E-5" "02330" "FLNC_000817" "g.128495346G>A" "" "" "" "FLNC(NM_001458.5):c.7229G>A (p.R2410H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924656" "0" "50" "7" "128496864" "128496864" "subst" "3.24884E-5" "02330" "FLNC_000319" "g.128496864G>A" "" "" "" "FLNC(NM_001458.4):c.7450G>A (p.G2484S), FLNC(NM_001458.5):c.7450G>A (p.G2484S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924657" "0" "10" "7" "128498156" "128498156" "subst" "8.1471E-6" "02330" "ATP6V1F_000025" "g.128498156C>T" "" "" "" "FLNC(NM_001458.5):c.7875C>T (p.Y2625=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924658" "0" "10" "7" "128498281" "128498281" "subst" "4.51078E-5" "02330" "ATP6V1F_000012" "g.128498281G>A" "" "" "" "FLNC(NM_001458.5):c.7990+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929278" "0" "50" "7" "128475506" "128475506" "subst" "0" "02330" "FLNC_000818" "g.128475506C>T" "" "" "" "FLNC(NM_001458.5):c.479C>T (p.T160M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929279" "0" "30" "7" "128477203" "128477203" "subst" "0.00123151" "01804" "FLNC_000334" "g.128477203C>T" "" "" "" "FLNC(NM_001127487.1):c.602-11C>T (p.(=)), FLNC(NM_001458.5):c.602-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929280" "0" "50" "7" "128480098" "128480098" "subst" "3.25293E-5" "02327" "FLNC_000819" "g.128480098G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929281" "0" "30" "7" "128480909" "128480909" "subst" "0.000366169" "02326" "FLNC_000210" "g.128480909C>T" "" "" "" "FLNC(NM_001458.4):c.1698C>T (p.S566=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929282" "0" "90" "7" "128480941" "128480941" "subst" "0" "02330" "FLNC_000820" "g.128480941G>A" "" "" "" "FLNC(NM_001458.5):c.1730G>A (p.W577*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000929283" "0" "30" "7" "128482327" "128482327" "subst" "2.44008E-5" "02325" "FLNC_000220" "g.128482327G>A" "" "" "" "FLNC(NM_001458.5):c.2164G>A (p.G722S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929284" "0" "30" "7" "128482965" "128482965" "subst" "0.000516311" "02326" "FLNC_000226" "g.128482965C>A" "" "" "" "FLNC(NM_001127487.1):c.2507C>A (p.(Pro836Gln)), FLNC(NM_001458.4):c.2507C>A (p.P836Q), FLNC(NM_001458.5):c.2507C>A (p.P836Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929285" "0" "50" "7" "128483334" "128483334" "subst" "7.04511E-5" "02330" "FLNC_000821" "g.128483334A>G" "" "" "" "FLNC(NM_001458.5):c.2602A>G (p.S868G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929286" "0" "30" "7" "128484891" "128484891" "subst" "1.21863E-5" "02326" "FLNC_000376" "g.128484891G>A" "" "" "" "FLNC(NM_001458.4):c.3372G>A (p.T1124=), FLNC(NM_001458.5):c.3372G>A (p.T1124=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929287" "0" "50" "7" "128485314" "128485314" "subst" "0.000186434" "02330" "FLNC_000379" "g.128485314G>A" "" "" "" "FLNC(NM_001127487.1):c.3790+5G>A (p.?), FLNC(NM_001458.4):c.3790+5G>A, FLNC(NM_001458.5):c.3790+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929288" "0" "10" "7" "128486105" "128486105" "subst" "0.00166509" "02326" "FLNC_000241" "g.128486105C>T" "" "" "" "FLNC(NM_001458.4):c.3852C>T (p.G1284=), FLNC(NM_001458.5):c.3852C>T (p.G1284=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929289" "0" "50" "7" "128486804" "128486804" "subst" "2.85458E-5" "02330" "FLNC_000822" "g.128486804C>T" "" "" "" "FLNC(NM_001458.5):c.4133C>T (p.A1378V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929290" "0" "10" "7" "128486832" "128486832" "subst" "0.00389336" "01804" "FLNC_000247" "g.128486832C>T" "" "" "" "FLNC(NM_001127487.1):c.4161C>T (p.(Ile1387=)), FLNC(NM_001458.5):c.4161C>T (p.I1387=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929291" "0" "10" "7" "128487747" "128487747" "subst" "0.00166318" "02326" "FLNC_000249" "g.128487747A>C" "" "" "" "FLNC(NM_001458.4):c.4289-4A>C, FLNC(NM_001458.5):c.4289-4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929292" "0" "50" "7" "128487763" "128487763" "subst" "9.34982E-5" "02330" "FLNC_000250" "g.128487763G>A" "" "" "" "FLNC(NM_001458.4):c.4301G>A (p.R1434H), FLNC(NM_001458.5):c.4301G>A (p.R1434H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929293" "0" "50" "7" "128489006" "128489006" "subst" "4.1414E-6" "02327" "FLNC_000823" "g.128489006A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929294" "0" "30" "7" "128490884" "128490884" "subst" "3.25071E-5" "02325" "FLNC_000824" "g.128490884C>T" "" "" "" "FLNC(NM_001458.5):c.5426C>T (p.T1809M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929295" "0" "30" "7" "128491266" "128491266" "subst" "0.000488305" "01804" "FLNC_000825" "g.128491266C>T" "" "" "" "FLNC(NM_001127487.1):c.5441-20C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929296" "0" "50" "7" "128494069" "128494069" "subst" "4.08797E-6" "02327" "FLNC_000548" "g.128494069C>T" "" "" "" "FLNC(NM_001458.4):c.6526C>T (p.R2176C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929297" "0" "30" "7" "128494726" "128494726" "subst" "6.9849E-5" "02326" "FLNC_000826" "g.128494726C>T" "" "" "" "FLNC(NM_001458.4):c.6987C>T (p.A2329=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000936137" "0" "70" "7" "128475394" "128475394" "subst" "0" "00006" "FLNC_000332" "g.128475394G>A" "" "{PMID:Cavdarli 2023:36575883}" "" "" "ACMG PM1 PM2 PP3 PM5" "Germline/De novo (untested)" "" "rs771153026" "0" "" "" "g.128835340G>A" "" "likely pathogenic (dominant)" "ACMG" "0000936163" "0" "50" "7" "128498450" "128498450" "subst" "0" "00006" "FLNC_000827" "g.128498450T>G" "" "{PMID:Cavdarli 2023:36575883}" "" "NM_001127487.2:c.7952G>T (Gly2651Val)" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.128858396T>G" "" "VUS" "" "0000936166" "0" "50" "7" "128490439" "128490439" "subst" "0" "00006" "FLNC_000402" "g.128490439C>T" "" "{PMID:Cavdarli 2023:36575883}" "" "NM_001127487.2:c.5201C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.128850385C>T" "" "VUS" "" "0000936167" "21" "50" "7" "128488022" "128488022" "subst" "4.9545E-5" "00006" "FLNC_000796" "g.128488022C>T" "" "{PMID:Cavdarli 2023:36575883}" "" "" "" "Germline" "" "rs779079128" "0" "" "" "g.128847968C>T" "" "VUS" "" "0000946004" "1" "90" "7" "128475604" "128475604" "subst" "0" "00006" "FLNC_000146" "g.128475604G>A" "" "{PMID:Westra 2019:31127727}" "" "" "" "Germline" "" "" "0" "" "" "g.128835550G>A" "" "pathogenic (dominant)" "" "0000946091" "0" "50" "7" "128485168" "128485168" "subst" "4.06577E-5" "00006" "FLNC_000828" "g.128485168A>T" "" "{PMID:Westra 2019:31127727}" "" "" "no segregation analysis" "Germline/De novo (untested)" "" "" "0" "" "" "g.128845114A>T" "" "VUS" "" "0000946092" "0" "50" "7" "128475476" "128475476" "subst" "3.25087E-5" "00006" "FLNC_000171" "g.128475476A>G" "" "{PMID:Westra 2019:31127727}" "" "" "no segregation analysis" "Germline/De novo (untested)" "" "" "0" "" "" "g.128835422A>G" "" "VUS" "" "0000946116" "0" "50" "7" "128486399" "128486399" "subst" "0" "00006" "FLNC_000156" "g.128486399A>C" "" "{PMID:Westra 2019:31127727}" "" "" "no segregation analysis" "Germline/De novo (untested)" "" "" "0" "" "" "g.128846345A>C" "" "VUS" "" "0000946125" "0" "50" "7" "128489035" "128489038" "del" "0" "00006" "FLNC_000829" "g.128489035_128489038del" "" "{PMID:Westra 2019:31127727}" "" "" "not present in mother; father not tested" "Germline/De novo (untested)" "" "" "0" "" "" "g.128848981_128848984del" "" "VUS" "" "0000946133" "0" "50" "7" "128478652" "128478652" "subst" "2.87708E-5" "00006" "FLNC_000147" "g.128478652G>A" "" "{PMID:Westra 2019:31127727}" "" "" "not present in mother; father not tested" "Germline/De novo (untested)" "" "" "0" "" "" "g.128838598G>A" "" "VUS" "" "0000946144" "1" "30" "7" "128486399" "128486399" "subst" "0" "00006" "FLNC_000156" "g.128486399A>C" "" "{PMID:Westra 2019:31127727}" "" "" "present in healthy family members" "Germline" "" "" "0" "" "" "g.128846345A>C" "" "likely benign" "" "0000946145" "11" "30" "7" "128491631" "128491631" "subst" "4.46726E-5" "00006" "FLNC_000106" "g.128491631C>T" "" "{PMID:Westra 2019:31127727}" "" "" "present in healthy father" "Germline" "" "" "0" "" "" "g.128851577C>T" "" "likely benign" "" "0000946146" "21" "30" "7" "128496702" "128496702" "subst" "2.04633E-5" "00006" "FLNC_000569" "g.128496702G>A" "" "{PMID:Westra 2019:31127727}" "" "" "present in healthy mother" "Germline" "" "" "0" "" "" "g.128856648G>A" "" "likely benign" "" "0000946147" "11" "30" "7" "128491631" "128491631" "subst" "4.46726E-5" "00006" "FLNC_000106" "g.128491631C>T" "" "{PMID:Westra 2019:31127727}" "" "" "present in healthy father" "Germline" "" "" "0" "" "" "g.128851577C>T" "" "likely benign" "" "0000946148" "21" "30" "7" "128496702" "128496702" "subst" "2.04633E-5" "00006" "FLNC_000569" "g.128496702G>A" "" "{PMID:Westra 2019:31127727}" "" "" "present in healthy mother" "Germline" "" "" "0" "" "" "g.128856648G>A" "" "likely benign" "" "0000946191" "0" "50" "7" "128480620" "128480620" "subst" "0.00021118" "00006" "FLNC_000349" "g.128480620T>C" "" "{PMID:Westra 2019:31127727}" "" "" "no segregation analysis" "Germline/De novo (untested)" "" "" "0" "" "" "g.128840566T>C" "" "VUS" "" "0000946206" "0" "50" "7" "128484968" "128484968" "subst" "7.31559E-5" "00006" "FLNC_000377" "g.128484968G>A" "" "{PMID:Westra 2019:31127727}" "" "" "no segregation analysis" "Germline/De novo (untested)" "" "" "0" "" "" "g.128844914G>A" "" "VUS" "" "0000948824" "0" "50" "7" "128470983" "128470983" "subst" "1.22391E-5" "02327" "FLNC_000830" "g.128470983G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948825" "0" "50" "7" "128478090" "128478090" "subst" "4.06197E-6" "02330" "FLNC_000581" "g.128478090A>G" "" "" "" "FLNC(NM_001458.5):c.1019A>G (p.Y340C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948826" "0" "30" "7" "128478415" "128478415" "subst" "8.12222E-5" "02327" "FLNC_000192" "g.128478415G>A" "" "" "" "FLNC(NM_001458.4):c.1142G>A (p.R381H), FLNC(NM_001458.5):c.1142G>A (p.R381H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948827" "0" "10" "7" "128478491" "128478491" "subst" "5.29411E-5" "02330" "FLNC_000831" "g.128478491G>A" "" "" "" "FLNC(NM_001458.5):c.1210+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948828" "0" "30" "7" "128478688" "128478688" "subst" "0" "02327" "FLNC_000832" "g.128478688C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948829" "0" "10" "7" "128480071" "128480071" "subst" "1.22453E-5" "02330" "FLNC_000833" "g.128480071C>T" "" "" "" "FLNC(NM_001458.5):c.1412-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948830" "0" "50" "7" "128481308" "128481308" "subst" "1.21853E-5" "02325" "FLNC_000834" "g.128481308C>T" "" "" "" "FLNC(NM_001458.5):c.1898C>T (p.T633M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948831" "0" "50" "7" "128481592" "128481592" "subst" "4.06105E-6" "02325" "FLNC_000835" "g.128481592G>A" "" "" "" "FLNC(NM_001458.5):c.2092G>A (p.G698S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948832" "0" "50" "7" "128481620" "128481620" "subst" "4.06105E-6" "02327" "FLNC_000219" "g.128481620A>G" "" "" "" "FLNC(NM_001458.5):c.2120A>G (p.Q707R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948833" "0" "10" "7" "128482679" "128482679" "subst" "5.42424E-5" "02330" "FLNC_000836" "g.128482679C>T" "" "" "" "FLNC(NM_001458.5):c.2316C>T (p.P772=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948834" "0" "50" "7" "128482949" "128482949" "subst" "2.03219E-5" "02327" "FLNC_000367" "g.128482949G>A" "" "" "" "FLNC(NM_001127487.1):c.2491G>A (p.(Val831Ile)), FLNC(NM_001458.5):c.2491G>A (p.V831I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948835" "0" "50" "7" "128483857" "128483857" "subst" "0" "02329" "FLNC_000837" "g.128483857T>C" "" "" "" "FLNC(NM_001458.4):c.2819T>C (p.(Met940Thr)), FLNC(NM_001458.5):c.2819T>C (p.M940T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948836" "0" "50" "7" "128483917" "128483917" "subst" "2.03069E-5" "02327" "FLNC_000838" "g.128483917T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948837" "0" "50" "7" "128484132" "128484132" "subst" "1.22032E-5" "02325" "FLNC_000061" "g.128484132C>T" "" "" "" "FLNC(NM_001458.4):c.3004C>T (p.R1002W), FLNC(NM_001458.5):c.3004C>T (p.R1002W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948838" "0" "30" "7" "128484261" "128484261" "subst" "6.96282E-5" "02327" "FLNC_000839" "g.128484261C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948839" "0" "10" "7" "128484762" "128484762" "subst" "5.2895E-5" "02330" "FLNC_000840" "g.128484762G>A" "" "" "" "FLNC(NM_001458.5):c.3243G>A (p.A1081=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948840" "0" "30" "7" "128485168" "128485168" "subst" "4.06577E-5" "02327" "FLNC_000828" "g.128485168A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948841" "0" "70" "7" "128486190" "128486190" "subst" "0" "02326" "FLNC_000841" "g.128486190C>T" "" "" "" "FLNC(NM_001458.4):c.3937C>T (p.R1313*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000948842" "0" "30" "7" "128486191" "128486191" "subst" "0.000203343" "02325" "FLNC_000072" "g.128486191G>A" "" "" "" "FLNC(NM_001127487.1):c.3938G>A (p.(Arg1313Gln)), FLNC(NM_001458.4):c.3938G>A (p.R1313Q), FLNC(NM_001458.5):c.3938G>A (p.R1313Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948843" "0" "50" "7" "128489424" "128489424" "subst" "6.91119E-5" "02325" "FLNC_000096" "g.128489424C>T" "" "" "" "FLNC(NM_001458.4):c.4991C>T (p.T1664M), FLNC(NM_001458.5):c.4991C>T (p.T1664M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948844" "0" "50" "7" "128489507" "128489507" "subst" "0" "02330" "FLNC_000842" "g.128489507G>A" "" "" "" "FLNC(NM_001458.5):c.5074G>A (p.V1692M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948845" "0" "50" "7" "128490126" "128490126" "subst" "4.35155E-5" "02325" "FLNC_000654" "g.128490126T>C" "" "" "" "FLNC(NM_001458.4):c.5296T>C (p.W1766R), FLNC(NM_001458.5):c.5296T>C (p.W1766R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948846" "0" "10" "7" "128490424" "128490424" "subst" "0" "02330" "FLNC_000843" "g.128490424C>G" "" "" "" "FLNC(NM_001458.5):c.5299-14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948847" "0" "10" "7" "128490885" "128490885" "subst" "3.65687E-5" "02330" "FLNC_000844" "g.128490885G>A" "" "" "" "FLNC(NM_001458.5):c.5427G>A (p.T1809=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948848" "0" "90" "7" "128491284" "128491284" "subst" "0" "02330" "FLNC_000845" "g.128491284A>G" "" "" "" "FLNC(NM_001458.5):c.5540-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000948849" "0" "50" "7" "128494106" "128494106" "subst" "1.63471E-5" "02330" "FLNC_000628" "g.128494106C>T" "" "" "" "FLNC(NM_001458.4):c.6563C>T (p.T2188M), FLNC(NM_001458.5):c.6563C>T (p.T2188M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948850" "0" "50" "7" "128494246" "128494246" "subst" "1.25372E-5" "02330" "FLNC_000422" "g.128494246G>A" "" "" "" "FLNC(NM_001458.5):c.6703G>A (p.G2235S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948851" "0" "10" "7" "128494938" "128494938" "subst" "2.03151E-5" "02330" "FLNC_000846" "g.128494938C>T" "" "" "" "FLNC(NM_001458.5):c.7107C>T (p.C2369=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948852" "0" "90" "7" "128495267" "128495268" "dup" "0" "02326" "FLNC_000847" "g.128495267_128495268dup" "" "" "" "FLNC(NM_001458.4):c.7150_7151dupTC (p.I2385Pfs*40), FLNC(NM_001458.5):c.7150_7151dupTC (p.I2385Pfs*40)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000952604" "0" "50" "7" "128494569" "128494569" "subst" "0" "03779" "FLNC_000849" "g.128494569G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs1186556555" "0" "" "" "" "" "VUS" "" "0000953641" "0" "50" "7" "128486052" "128486052" "subst" "2.03706E-5" "03779" "FLNC_000848" "g.128486052C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs371483562" "0" "" "" "" "" "VUS" "" "0000957869" "0" "70" "7" "128484198" "128484198" "subst" "0" "00006" "FLNC_000491" "g.128484198C>T" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.128844144C>T" "" "likely pathogenic" "" "0000959820" "0" "50" "7" "128496808" "128496808" "subst" "0" "03779" "FLNC_000850" "g.128496808C>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000960220" "0" "50" "7" "128492929" "128492929" "subst" "1.21869E-5" "03779" "FLNC_000587" "g.128492929C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs1335627502" "0" "" "" "" "" "VUS" "" "0000964408" "0" "50" "7" "128470722" "128470722" "subst" "6.59315E-5" "02330" "FLNC_000325" "g.128470722G>A" "" "" "" "FLNC(NM_001458.4):c.31G>A (p.G11S), FLNC(NM_001458.5):c.31G>A (p.G11S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964410" "0" "10" "7" "128477320" "128477320" "subst" "0.000489347" "02330" "FLNC_000851" "g.128477320G>A" "" "" "" "FLNC(NM_001458.5):c.699+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000964411" "0" "90" "7" "128477511" "128477511" "subst" "0" "02325" "FLNC_000852" "g.128477511C>A" "" "" "" "FLNC(NM_001458.5):c.759C>A (p.Y253*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000964412" "0" "50" "7" "128478103" "128478120" "dup" "0" "02330" "FLNC_000853" "g.128478103_128478120dup" "" "" "" "FLNC(NM_001458.5):c.1032_1049dupCGCTGGGTTACACAAGGT (p.A345_V350dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964413" "0" "50" "7" "128480163" "128480163" "subst" "4.06227E-6" "02326" "FLNC_000854" "g.128480163T>C" "" "" "" "FLNC(NM_001458.4):c.1498T>C (p.F500L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964414" "0" "10" "7" "128480183" "128480183" "subst" "0.000572966" "02330" "FLNC_000597" "g.128480183C>T" "" "" "" "FLNC(NM_001458.4):c.1518C>T (p.S506=), FLNC(NM_001458.5):c.1518C>T (p.S506=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000964415" "0" "30" "7" "128480652" "128480652" "subst" "0.000791878" "01804" "FLNC_000207" "g.128480652G>A" "" "" "" "FLNC(NM_001127487.1):c.1600G>A (p.(Glu534Lys)), FLNC(NM_001458.4):c.1600G>A (p.E534K), FLNC(NM_001458.5):c.1600G>A (p.E534K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964416" "0" "10" "7" "128481234" "128481234" "subst" "1.22009E-5" "02330" "FLNC_000855" "g.128481234C>T" "" "" "" "FLNC(NM_001458.5):c.1824C>T (p.I608=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000964418" "0" "30" "7" "128481578" "128481578" "subst" "0.00345573" "02325" "FLNC_000218" "g.128481578A>C" "" "" "" "FLNC(NM_001458.4):c.2078A>C (p.D693A), FLNC(NM_001458.5):c.2078A>C (p.D693A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964420" "0" "10" "7" "128482432" "128482432" "subst" "1.22572E-5" "02330" "FLNC_000856" "g.128482432C>A" "" "" "" "FLNC(NM_001458.5):c.2265+4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000964421" "0" "10" "7" "128482836" "128482836" "subst" "0.000163861" "02330" "FLNC_000365" "g.128482836G>A" "" "" "" "FLNC(NM_001458.4):c.2390-12G>A, FLNC(NM_001458.5):c.2390-12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000964422" "0" "10" "7" "128483506" "128483506" "subst" "0.000373975" "02330" "FLNC_000004" "g.128483506G>A" "" "" "" "FLNC(NM_001458.5):c.2686G>A (p.G896R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000964424" "0" "50" "7" "128484829" "128484829" "subst" "3.24995E-5" "02327" "FLNC_000857" "g.128484829G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964426" "0" "30" "7" "128486395" "128486395" "subst" "0" "02330" "FLNC_000858" "g.128486395G>C" "" "" "" "FLNC(NM_001458.5):c.4005G>C (p.V1335=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964427" "0" "50" "7" "128486900" "128486900" "subst" "2.03079E-5" "02326" "FLNC_000591" "g.128486900T>A" "" "" "" "FLNC(NM_001458.4):c.4229T>A (p.I1410N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964428" "0" "90" "7" "128487812" "128487813" "ins" "0" "02330" "FLNC_000859" "g.128487812_128487813insACAGGGGAAGGTGAAGTGCTCAGGG" "" "" "" "FLNC(NM_001458.5):c.4350_4351insACAGGGGAAGGTGAAGTGCTCAGGG (p.P1451Tfs*68)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000964429" "0" "10" "7" "128488072" "128488072" "subst" "0" "02330" "FLNC_000860" "g.128488072C>T" "" "" "" "FLNC(NM_001458.5):c.4530C>T (p.D1510=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000964430" "0" "10" "7" "128488610" "128488610" "subst" "0.00026852" "02330" "FLNC_000086" "g.128488610T>A" "" "" "" "FLNC(NM_001458.4):c.4581-5T>A, FLNC(NM_001458.5):c.4581-5T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000964431" "0" "50" "7" "128488705" "128488705" "subst" "0" "02325" "FLNC_000861" "g.128488705C>A" "" "" "" "FLNC(NM_001458.5):c.4671C>A (p.S1557R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964432" "0" "50" "7" "128488740" "128488740" "subst" "1.22296E-5" "02327" "FLNC_000637" "g.128488740C>T" "" "" "" "FLNC(NM_001458.5):c.4706C>T (p.A1569V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964434" "0" "50" "7" "128490926" "128490926" "subst" "4.46791E-5" "02330" "FLNC_000279" "g.128490926C>T" "" "" "" "FLNC(NM_001127487.1):c.5369C>T (p.(Thr1790Met)), FLNC(NM_001458.4):c.5468C>T (p.T1823M), FLNC(NM_001458.5):c.5468C>T (p.T1823M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964436" "0" "50" "7" "128491626" "128491626" "subst" "0" "02326" "FLNC_000862" "g.128491626T>C" "" "" "" "FLNC(NM_001458.4):c.5786T>C (p.I1929T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964437" "0" "30" "7" "128491699" "128491699" "subst" "0.000281348" "02326" "FLNC_000863" "g.128491699G>A" "" "" "" "FLNC(NM_001458.4):c.5842+17G>A, FLNC(NM_001458.5):c.5842+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964438" "0" "50" "7" "128492795" "128492795" "subst" "0" "02326" "FLNC_000864" "g.128492795A>G" "" "" "" "FLNC(NM_001458.4):c.5993A>G (p.N1998S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964440" "0" "30" "7" "128494137" "128494137" "subst" "6.1407E-5" "02330" "FLNC_000419" "g.128494137C>T" "" "" "" "FLNC(NM_001458.4):c.6594C>T (p.G2198=), FLNC(NM_001458.5):c.6594C>T (p.G2198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964441" "0" "30" "7" "128494556" "128494556" "subst" "0.000124378" "02326" "FLNC_000425" "g.128494556G>A" "" "" "" "FLNC(NM_001458.4):c.6817G>A (p.A2273T), FLNC(NM_001458.5):c.6817G>A (p.A2273T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964442" "0" "50" "7" "128494564" "128494564" "subst" "4.43314E-6" "02327" "FLNC_000123" "g.128494564C>A" "" "" "" "FLNC(NM_001458.4):c.6825C>A (p.S2275R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964443" "0" "90" "7" "128495267" "128495268" "dup" "0" "02330" "FLNC_000847" "g.128495267_128495268dup" "" "" "" "FLNC(NM_001458.4):c.7150_7151dupTC (p.I2385Pfs*40), FLNC(NM_001458.5):c.7150_7151dupTC (p.I2385Pfs*40)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000964444" "0" "50" "7" "128496901" "128496901" "subst" "4.06171E-6" "02327" "FLNC_000865" "g.128496901T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000971562" "21" "50" "7" "128477472" "128477473" "inv" "0" "00006" "FLNC_000866" "g.128477472_128477473inv" "" "{PMID:Del Rocio Perez Baca 2024:38412861}" "" "720_721delinsCA" "" "Germline" "" "" "0" "" "" "g.128837418_128837419inv" "" "VUS" "" "0000972103" "0" "50" "7" "128478407" "128478407" "subst" "4.06098E-6" "03779" "FLNC_000867" "g.128478407G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs1311799249" "0" "" "" "" "" "VUS" "" "0000977510" "0" "50" "7" "128477714" "128477714" "subst" "4.10297E-6" "02330" "FLNC_000868" "g.128477714G>A" "" "" "" "FLNC(NM_001458.5):c.874G>A (p.V292M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977511" "0" "30" "7" "128478036" "128478036" "subst" "2.43902E-5" "02330" "FLNC_000645" "g.128478036A>G" "" "" "" "FLNC(NM_001458.5):c.970-5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977512" "0" "30" "7" "128482655" "128482655" "subst" "9.54094E-5" "01804" "FLNC_000224" "g.128482655C>T" "" "" "" "FLNC(NM_001458.4):c.2292C>T (p.P764=), FLNC(NM_001458.5):c.2292C>T (p.P764=, p.(Pro764=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977513" "0" "10" "7" "128482767" "128482767" "subst" "0" "02330" "FLNC_000869" "g.128482767A>G" "" "" "" "FLNC(NM_001458.5):c.2389+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000977514" "0" "10" "7" "128482839" "128482839" "subst" "0.00235479" "01804" "FLNC_000051" "g.128482839T>C" "" "" "" "FLNC(NM_001127487.1):c.2390-9T>C (p.(=)), FLNC(NM_001458.4):c.2390-9T>C, FLNC(NM_001458.5):c.2390-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000977515" "0" "30" "7" "128482873" "128482873" "subst" "7.32404E-5" "02326" "FLNC_000870" "g.128482873C>T" "" "" "" "FLNC(NM_001458.4):c.2415C>T (p.C805=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977516" "0" "50" "7" "128482883" "128482883" "subst" "1.6267E-5" "02325" "FLNC_000054" "g.128482883G>A" "" "" "" "FLNC(NM_001458.4):c.2425G>A (p.V809M), FLNC(NM_001458.5):c.2425G>A (p.V809M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977517" "0" "50" "7" "128483557" "128483557" "subst" "8.14332E-6" "02330" "FLNC_000485" "g.128483557G>A" "" "" "" "FLNC(NM_001458.5):c.2737G>A (p.E913K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977518" "0" "50" "7" "128484216" "128484216" "subst" "0" "01804" "FLNC_000871" "g.128484216C>A" "" "" "" "FLNC(NM_001458.5):c.3088C>A (p.(Pro1030Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977519" "0" "50" "7" "128486125" "128486125" "subst" "8.16486E-5" "02330" "FLNC_000872" "g.128486125G>A" "" "" "" "FLNC(NM_001458.4):c.3872G>A (p.(Arg1291His)), FLNC(NM_001458.5):c.3872G>A (p.R1291H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977520" "0" "50" "7" "128487763" "128487763" "subst" "6.09771E-5" "02327" "FLNC_000387" "g.128487763G>T" "" "" "" "FLNC(NM_001458.4):c.4301G>T (p.R1434L), FLNC(NM_001458.5):c.4301G>T (p.R1434L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977521" "0" "30" "7" "128487763" "128487763" "subst" "6.09771E-5" "02326" "FLNC_000387" "g.128487763G>T" "" "" "" "FLNC(NM_001458.4):c.4301G>T (p.R1434L), FLNC(NM_001458.5):c.4301G>T (p.R1434L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977522" "0" "10" "7" "128491699" "128491699" "subst" "0.000281348" "02330" "FLNC_000863" "g.128491699G>A" "" "" "" "FLNC(NM_001458.4):c.5842+17G>A, FLNC(NM_001458.5):c.5842+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000977523" "0" "50" "7" "128494216" "128494216" "subst" "8.25825E-6" "01804" "FLNC_000873" "g.128494216T>C" "" "" "" "FLNC(NM_001458.5):c.6673T>C (p.(Phe2225Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977524" "0" "30" "7" "128494973" "128494973" "subst" "2.43986E-5" "01804" "FLNC_000311" "g.128494973G>A" "" "" "" "FLNC(NM_001458.4):c.7135+7G>A, FLNC(NM_001458.5):c.7135+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977525" "0" "50" "7" "128496654" "128496654" "subst" "0" "02329" "FLNC_000315" "g.128496654A>G" "" "" "" "FLNC(NM_001127487.1):c.7235A>G (p.(His2412Arg)), FLNC(NM_001458.4):c.7334A>G (p.H2445R), FLNC(NM_001458.5):c.7334A>G (p.H2445R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977526" "0" "30" "7" "128496664" "128496664" "subst" "4.10469E-5" "02330" "FLNC_000874" "g.128496664G>A" "" "" "" "FLNC(NM_001458.5):c.7344G>A (p.S2448=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977527" "0" "50" "7" "128496837" "128496837" "subst" "2.84278E-5" "02325" "FLNC_000317" "g.128496837G>A" "" "" "" "FLNC(NM_001458.4):c.7423G>A (p.V2475I), FLNC(NM_001458.5):c.7423G>A (p.V2475I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000985114" "0" "50" "7" "128477590" "128477590" "subst" "2.03089E-5" "03779" "FLNC_000778" "g.128477590G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs778751919" "0" "" "" "" "" "VUS" "" "0000987498" "0" "50" "7" "128494160" "128494160" "subst" "4.10408E-6" "03779" "FLNC_000420" "g.128494160G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs781671804" "0" "" "" "" "" "VUS" "" "0000987736" "0" "90" "7" "128497191" "128497191" "del" "0" "03779" "FLNC_000875" "g.128497191del" "" "" "" "" "" "CLASSIFICATION record" "" "rs1809098380" "0" "" "" "" "" "pathogenic" "" "0000989362" "0" "50" "7" "128488662" "128488662" "subst" "2.44065E-5" "03779" "FLNC_000877" "g.128488662G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs369178040" "0" "" "" "" "" "VUS" "" "0000989376" "0" "50" "7" "128475497" "128475497" "subst" "5.69184E-5" "03779" "FLNC_000876" "g.128475497G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs752919962" "0" "" "" "" "" "VUS" "" "0000989691" "0" "50" "7" "128496600" "128496600" "subst" "0" "02515" "FLNC_000878" "g.128496600C>T" "" "Fusco 2042, submitted" "" "" "variant definitively linked to disease" "Germline" "" "rs1343869103" "0" "" "" "g.128856546C>T" "" "VUS" "" "0000996174" "0" "50" "7" "128475476" "128475476" "subst" "3.25087E-5" "01804" "FLNC_000171" "g.128475476A>G" "" "" "" "FLNC(NM_001458.4):c.449A>G (p.(Asp150Gly), p.D150G), FLNC(NM_001458.5):c.449A>G (p.D150G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996175" "0" "50" "7" "128478405" "128478405" "subst" "0" "01804" "FLNC_000191" "g.128478405G>A" "" "" "" "FLNC(NM_001458.4):c.1132G>A (p.V378M, p.(Val378Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996176" "0" "50" "7" "128478481" "128478481" "subst" "2.0336E-5" "01804" "FLNC_000879" "g.128478481C>T" "" "" "" "FLNC(NM_001458.4):c.1208C>T (p.(Ala403Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996177" "0" "50" "7" "128478755" "128478755" "subst" "3.66856E-5" "02325" "FLNC_000780" "g.128478755C>T" "" "" "" "FLNC(NM_001458.5):c.1309C>T (p.R437C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996178" "0" "50" "7" "128480136" "128480136" "subst" "4.875E-5" "01804" "FLNC_000031" "g.128480136G>A" "" "" "" "FLNC(NM_001458.4):c.1471G>A (p.(Val491Met), p.V491M), FLNC(NM_001458.5):c.1471G>A (p.V491M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996179" "0" "50" "7" "128480725" "128480725" "subst" "3.65571E-5" "01804" "FLNC_000036" "g.128480725G>A" "" "" "" "FLNC(NM_001458.4):c.1673G>A (p.(Arg558His), p.R558H), FLNC(NM_001458.5):c.1673G>A (p.R558H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996180" "0" "10" "7" "128481288" "128481288" "subst" "1.62504E-5" "02330" "FLNC_000880" "g.128481288C>T" "" "" "" "FLNC(NM_001458.5):c.1878C>T (p.C626=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000996181" "0" "50" "7" "128481295" "128481295" "subst" "2.43708E-5" "02326" "FLNC_000149" "g.128481295C>T" "" "" "" "FLNC(NM_001458.4):c.1885C>T (p.R629W), FLNC(NM_001458.5):c.1885C>T (p.R629W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996182" "0" "50" "7" "128481391" "128481391" "subst" "4.06418E-6" "02325" "FLNC_000881" "g.128481391G>A" "" "" "" "FLNC(NM_001458.5):c.1981G>A (p.A661T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996183" "0" "90" "7" "128482433" "128482433" "subst" "8.17167E-6" "01804" "FLNC_000221" "g.128482433G>A" "" "" "" "FLNC(NM_001458.4):c.2265+5G>A (p.?), FLNC(NM_001458.5):c.2265+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000996184" "0" "10" "7" "128482852" "128482852" "subst" "4.89249E-5" "02330" "FLNC_000882" "g.128482852C>T" "" "" "" "FLNC(NM_001458.5):c.2394C>T (p.D798=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000996185" "0" "50" "7" "128482908" "128482908" "subst" "2.03231E-5" "02330" "FLNC_000483" "g.128482908T>C" "" "" "" "FLNC(NM_001458.5):c.2450T>C (p.I817T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996186" "0" "30" "7" "128482965" "128482965" "subst" "0.000516311" "01804" "FLNC_000226" "g.128482965C>A" "" "" "" "FLNC(NM_001127487.1):c.2507C>A (p.(Pro836Gln)), FLNC(NM_001458.4):c.2507C>A (p.P836Q), FLNC(NM_001458.5):c.2507C>A (p.P836Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996187" "0" "30" "7" "128483853" "128483853" "subst" "8.12209E-6" "02327" "FLNC_000883" "g.128483853A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996188" "0" "50" "7" "128483857" "128483857" "subst" "0" "01804" "FLNC_000837" "g.128483857T>C" "" "" "" "FLNC(NM_001458.4):c.2819T>C (p.(Met940Thr)), FLNC(NM_001458.5):c.2819T>C (p.M940T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996189" "0" "30" "7" "128484088" "128484088" "subst" "0" "02327" "FLNC_000884" "g.128484088C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996190" "0" "30" "7" "128484968" "128484968" "subst" "7.31559E-5" "02330" "FLNC_000377" "g.128484968G>A" "" "" "" "FLNC(NM_001458.5):c.3449G>A (p.R1150Q, p.(Arg1150Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996191" "0" "50" "7" "128484986" "128484986" "subst" "2.43861E-5" "02330" "FLNC_000885" "g.128484986G>A" "" "" "" "FLNC(NM_001458.5):c.3467G>A (p.S1156N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996192" "0" "50" "7" "128485021" "128485021" "subst" "2.43936E-5" "01804" "FLNC_000886" "g.128485021G>A" "" "" "" "FLNC(NM_001458.4):c.3502G>A (p.(Gly1168Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996193" "0" "50" "7" "128485193" "128485193" "subst" "0" "01804" "FLNC_000887" "g.128485193C>A" "" "" "" "FLNC(NM_001458.4):c.3674C>A (p.(Thr1225Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996194" "0" "30" "7" "128486125" "128486125" "subst" "8.16486E-5" "01804" "FLNC_000872" "g.128486125G>A" "" "" "" "FLNC(NM_001458.4):c.3872G>A (p.(Arg1291His)), FLNC(NM_001458.5):c.3872G>A (p.R1291H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996195" "0" "10" "7" "128486226" "128486226" "subst" "0.00098802" "02330" "FLNC_000073" "g.128486226C>T" "" "" "" "FLNC(NM_001458.4):c.3964+9C>T, FLNC(NM_001458.5):c.3964+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000996196" "0" "50" "7" "128488016" "128488016" "subst" "0" "02330" "FLNC_000888" "g.128488016G>A" "" "" "" "FLNC(NM_001458.5):c.4474G>A (p.E1492K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996197" "0" "50" "7" "128489561" "128489561" "subst" "4.46817E-5" "01804" "FLNC_000271" "g.128489561G>A" "" "" "" "FLNC(NM_001458.4):c.5128G>A (p.E1710K, p.(Glu1710Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996198" "0" "50" "7" "128491363" "128491363" "subst" "0" "01804" "FLNC_000889" "g.128491363A>G" "" "" "" "FLNC(NM_001458.4):c.5617A>G (p.(Met1873Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996199" "0" "10" "7" "128492712" "128492712" "subst" "0.000130347" "02330" "FLNC_000890" "g.128492712C>T" "" "" "" "FLNC(NM_001458.5):c.5910C>T (p.T1970=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000996200" "0" "50" "7" "128492979" "128492979" "subst" "0" "02326" "FLNC_000891" "g.128492979G>T" "" "" "" "FLNC(NM_001458.4):c.6102G>T (p.G2034=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996201" "0" "50" "7" "128493607" "128493607" "subst" "0" "01804" "FLNC_000892" "g.128493607T>G" "" "" "" "FLNC(NM_001458.4):c.6293T>G (p.(Val2098Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996202" "0" "70" "7" "128493885" "128493885" "subst" "0" "02330" "FLNC_000008" "g.128493885A>T" "" "" "" "FLNC(NM_001458.5):c.6478A>T (p.I2160F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000996203" "0" "10" "7" "128494116" "128494116" "subst" "4.0835E-6" "02330" "FLNC_000893" "g.128494116G>A" "" "" "" "FLNC(NM_001458.5):c.6573G>A (p.T2191=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000996204" "0" "50" "7" "128494159" "128494159" "subst" "0" "01804" "FLNC_000894" "g.128494159C>T" "" "" "" "FLNC(NM_001458.4):c.6616C>T (p.(Arg2206Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996205" "0" "50" "7" "128494206" "128494206" "subst" "0" "02326" "FLNC_000895" "g.128494206G>A" "" "" "" "FLNC(NM_001458.4):c.6663G>A (p.V2221=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996206" "0" "50" "7" "128494207" "128494207" "subst" "0" "02326" "FLNC_000896" "g.128494207T>A" "" "" "" "FLNC(NM_001458.4):c.6664T>A (p.F2222I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996207" "0" "50" "7" "128494697" "128494697" "subst" "0" "01804" "FLNC_000629" "g.128494697G>A" "" "" "" "FLNC(NM_001458.4):c.6958G>A (p.G2320R, p.(Gly2320Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996208" "0" "50" "7" "128494829" "128494829" "subst" "0" "02325" "FLNC_000897" "g.128494829C>A" "" "" "" "FLNC(NM_001458.5):c.6998C>A (p.A2333D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996209" "0" "50" "7" "128496898" "128496898" "subst" "2.03092E-5" "01804" "FLNC_000570" "g.128496898G>A" "" "" "" "FLNC(NM_001458.4):c.7484G>A (p.R2495H, p.(Arg2495His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996210" "0" "30" "7" "128496913" "128496913" "subst" "5.68722E-5" "02326" "FLNC_000898" "g.128496913G>A" "" "" "" "FLNC(NM_001458.4):c.7499G>A (p.S2500N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996211" "0" "50" "7" "128496924" "128496924" "subst" "0" "02327" "FLNC_000899" "g.128496924G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996212" "0" "50" "7" "128498449" "128498449" "subst" "0" "01804" "ATP6V1F_000014" "g.128498449G>A" "" "" "" "FLNC(NM_001458.4):c.8050G>A (p.(Val2684Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996213" "0" "50" "7" "128498569" "128498569" "subst" "0" "02330" "FLNC_000161" "g.128498569G>T" "" "" "" "FLNC(NM_001458.5):c.8170G>T (p.V2724F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001007108" "0" "30" "7" "128480620" "128480620" "subst" "0.00021118" "03779" "FLNC_000349" "g.128480620T>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs182845462" "0" "" "" "" "" "likely benign" "" "0001007477" "0" "70" "7" "128493660" "128493660" "subst" "4.06164E-6" "00006" "FLNC_000902" "g.128493660G>A" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs1233400998" "0" "" "" "g.128853606G>A" "" "VUS" "" "0001007478" "0" "70" "7" "128477593" "128477593" "subst" "0" "00006" "FLNC_000900" "g.128477593T>C" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "" "0" "" "" "g.128837539T>C" "" "VUS" "" "0001007479" "0" "70" "7" "128487834" "128487834" "subst" "4.06534E-6" "00006" "FLNC_000901" "g.128487834A>G" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs762257502" "0" "" "" "g.128847780A>G" "" "VUS" "" "0001007556" "0" "70" "7" "128495345" "128495345" "subst" "2.43797E-5" "00006" "FLNC_000565" "g.128495345C>T" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs750686083" "0" "" "" "g.128855291C>T" "" "VUS" "" "0001012716" "0" "50" "7" "128493832" "128493832" "subst" "0" "03779" "FLNC_000903" "g.128493832G>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0001012930" "0" "50" "7" "128478375" "128478375" "subst" "3.65497E-5" "03779" "FLNC_000906" "g.128478375G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs781718076" "0" "" "" "" "" "VUS" "" "0001014277" "0" "50" "7" "128470939" "128470956" "dup" "0" "02330" "FLNC_000327" "g.128470939_128470956dup" "" "" "" "FLNC(NM_001458.4):c.248_265dupACCGCAAGTTCCATCCGC (p.P88_R89insHRKFHP), FLNC(NM_001458.5):c.248_265dupACCGCAAGTTCCATCCGC (p.P88_R89insHRKFHP)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014278" "0" "50" "7" "128475475" "128475475" "subst" "0" "02330" "FLNC_000904" "g.128475475G>A" "" "" "" "FLNC(NM_001458.5):c.448G>A (p.D150N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014279" "0" "50" "7" "128475596" "128475596" "subst" "0" "02330" "FLNC_000737" "g.128475596C>T" "" "" "" "FLNC(NM_001458.5):c.569C>T (p.A190V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014280" "0" "50" "7" "128477754" "128477754" "subst" "0" "02327" "FLNC_000905" "g.128477754C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014281" "0" "90" "7" "128478037" "128478037" "subst" "2.43885E-5" "02325" "FLNC_000190" "g.128478037A>G" "" "" "" "FLNC(NM_001458.4):c.970-4A>G, FLNC(NM_001458.5):c.970-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001014282" "0" "30" "7" "128478097" "128478097" "subst" "0.000333111" "02330" "FLNC_000686" "g.128478097C>T" "" "" "" "FLNC(NM_001458.4):c.1026C>T (p.P342=), FLNC(NM_001458.5):c.1026C>T (p.P342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014283" "0" "50" "7" "128478375" "128478375" "subst" "3.65497E-5" "02330" "FLNC_000906" "g.128478375G>A" "" "" "" "FLNC(NM_001458.5):c.1102G>A (p.V368M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014284" "0" "50" "7" "128478704" "128478704" "subst" "3.26851E-5" "02330" "FLNC_000195" "g.128478704C>T" "" "" "" "FLNC(NM_001458.4):c.1258C>T (p.R420W), FLNC(NM_001458.5):c.1258C>T (p.R420W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014285" "0" "50" "7" "128478713" "128478713" "subst" "0" "02325" "FLNC_000907" "g.128478713A>T" "" "" "" "FLNC(NM_001458.5):c.1267A>T (p.T423S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014286" "0" "30" "7" "128478800" "128478800" "subst" "0.000142627" "02330" "FLNC_000908" "g.128478800G>A" "" "" "" "FLNC(NM_001458.5):c.1354G>A (p.V452M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014287" "0" "50" "7" "128478828" "128478828" "subst" "4.09786E-6" "02325" "FLNC_000197" "g.128478828G>A" "" "" "" "FLNC(NM_001458.4):c.1382G>A (p.R461H), FLNC(NM_001458.5):c.1382G>A (p.R461H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014288" "0" "90" "7" "128480663" "128480663" "del" "0" "02330" "FLNC_000909" "g.128480663del" "" "" "" "FLNC(NM_001458.5):c.1611delC (p.Y538Tfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001014289" "0" "50" "7" "128480668" "128480668" "subst" "1.62443E-5" "02325" "FLNC_000910" "g.128480668C>T" "" "" "" "FLNC(NM_001458.5):c.1616C>T (p.P539L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014290" "0" "50" "7" "128483319" "128483319" "subst" "1.26092E-5" "02327" "FLNC_000911" "g.128483319C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014291" "0" "50" "7" "128483567" "128483567" "subst" "2.44598E-5" "02330" "FLNC_000912" "g.128483567G>A" "" "" "" "FLNC(NM_001458.5):c.2747G>A (p.R916Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014292" "0" "10" "7" "128483619" "128483619" "subst" "0.000123529" "02330" "FLNC_000913" "g.128483619C>T" "" "" "" "FLNC(NM_001458.5):c.2799C>T (p.T933=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014293" "0" "30" "7" "128483645" "128483645" "subst" "2.06318E-5" "02330" "FLNC_000914" "g.128483645C>T" "" "" "" "FLNC(NM_001458.5):c.2811+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014294" "0" "50" "7" "128484183" "128484183" "subst" "8.14651E-6" "02330" "FLNC_000915" "g.128484183G>T" "" "" "" "FLNC(NM_001458.5):c.3055G>T (p.G1019C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014295" "0" "30" "7" "128485314" "128485314" "subst" "0.000186434" "01804" "FLNC_000379" "g.128485314G>A" "" "" "" "FLNC(NM_001127487.1):c.3790+5G>A (p.?), FLNC(NM_001458.4):c.3790+5G>A, FLNC(NM_001458.5):c.3790+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014296" "0" "50" "7" "128486873" "128486873" "subst" "0" "02327" "FLNC_000916" "g.128486873A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014297" "0" "10" "7" "128488684" "128488684" "subst" "3.25759E-5" "02330" "FLNC_000709" "g.128488684C>T" "" "" "" "FLNC(NM_001127487.1):c.4650C>T (p.(=)), FLNC(NM_001458.5):c.4650C>T (p.N1550=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014298" "0" "50" "7" "128488989" "128488989" "subst" "2.06675E-5" "02330" "FLNC_000170" "g.128488989G>A" "" "" "" "FLNC(NM_001458.5):c.4880G>A (p.R1627H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014299" "0" "30" "7" "128489023" "128489023" "subst" "2.9099E-5" "02326" "FLNC_000264" "g.128489023G>A" "" "" "" "FLNC(NM_001458.4):c.4914G>A (p.K1638=), FLNC(NM_001458.5):c.4914G>A (p.K1638=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014300" "0" "50" "7" "128490495" "128490495" "subst" "0" "02330" "FLNC_000917" "g.128490495A>C" "" "" "" "FLNC(NM_001458.5):c.5356A>C (p.N1786H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014301" "0" "50" "7" "128492747" "128492747" "subst" "0" "02330" "FLNC_000286" "g.128492747G>A" "" "" "" "FLNC(NM_001127487.1):c.5846G>A (p.(Arg1949His)), FLNC(NM_001458.5):c.5945G>A (p.R1982H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014302" "0" "10" "7" "128492907" "128492907" "subst" "4.0626E-6" "02330" "FLNC_000918" "g.128492907C>T" "" "" "" "FLNC(NM_001458.5):c.6030C>T (p.V2010=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014303" "0" "50" "7" "128493805" "128493805" "subst" "0" "02330" "FLNC_000417" "g.128493805G>A" "" "" "" "FLNC(NM_001458.5):c.6398G>A (p.R2133H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014304" "0" "50" "7" "128494045" "128494045" "subst" "0" "02330" "FLNC_000919" "g.128494045G>T" "" "" "" "FLNC(NM_001458.5):c.6502G>T (p.V2168L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014305" "0" "50" "7" "128494225" "128494225" "subst" "4.14528E-6" "02326" "FLNC_000657" "g.128494225C>T" "" "" "" "FLNC(NM_001458.4):c.6682C>T (p.R2228W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014306" "0" "50" "7" "128496623" "128496623" "subst" "0" "02325" "FLNC_000920" "g.128496623G>A" "" "" "" "FLNC(NM_001458.5):c.7303G>A (p.G2435S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014307" "0" "50" "7" "128496647" "128496647" "subst" "0" "02330" "FLNC_000921" "g.128496647C>T" "" "" "" "FLNC(NM_001458.5):c.7327C>T (p.R2443W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014308" "0" "50" "7" "128496814" "128496814" "subst" "8.12315E-6" "02330" "FLNC_000922" "g.128496814G>A" "" "" "" "FLNC(NM_001458.5):c.7400G>A (p.R2467H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001020083" "0" "50" "7" "128490991" "128490991" "subst" "0" "03779" "FLNC_000923" "g.128490991A>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0001022138" "0" "90" "7" "128481026" "128481026" "subst" "0" "04796" "FLNC_000354" "g.128481026T>C" "" "" "" "" "multiple effects on RNA" "Germline/De novo (untested)" "" "" "0" "" "" "g.128840972T>C" "" "pathogenic" "" "0001023889" "0" "50" "7" "128486214" "128486214" "subst" "4.06961E-6" "03779" "FLNC_000924" "g.128486214G>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs1323515080" "0" "" "" "" "" "VUS" "" "0001023906" "0" "50" "7" "128494662" "128494662" "subst" "4.18207E-5" "03779" "FLNC_000925" "g.128494662C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs369250297" "0" "" "" "" "" "VUS" "" "0001025312" "0" "50" "7" "128477264" "128477264" "subst" "0" "02325" "FLNC_000926" "g.128477264G>A" "" "" "" "FLNC(NM_001458.5):c.652G>A (p.A218T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025313" "0" "30" "7" "128480628" "128480628" "subst" "0.000174636" "02330" "FLNC_000927" "g.128480628C>T" "" "" "" "FLNC(NM_001458.5):c.1576C>T (p.R526W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025314" "0" "50" "7" "128480977" "128480977" "subst" "8.51397E-6" "02325" "FLNC_000928" "g.128480977C>T" "" "" "" "FLNC(NM_001458.5):c.1766C>T (p.S589L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025315" "0" "30" "7" "128481261" "128481261" "subst" "3.65702E-5" "02330" "FLNC_000929" "g.128481261A>G" "" "" "" "FLNC(NM_001458.5):c.1851A>G (p.E617=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025316" "0" "30" "7" "128481333" "128481333" "subst" "0.00023151" "01804" "FLNC_000213" "g.128481333C>T" "" "" "" "FLNC(NM_001127487.1):c.1923C>T (p.(His641=)), FLNC(NM_001458.4):c.1923C>T (p.H641=), FLNC(NM_001458.5):c.1923C>T (p.H641=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025317" "0" "10" "7" "128481549" "128481549" "subst" "4.06078E-6" "02330" "FLNC_000930" "g.128481549C>T" "" "" "" "FLNC(NM_001458.5):c.2049C>T (p.I683=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025318" "0" "50" "7" "128481578" "128481578" "subst" "0.00345573" "02330" "FLNC_000218" "g.128481578A>C" "" "" "" "FLNC(NM_001458.4):c.2078A>C (p.D693A), FLNC(NM_001458.5):c.2078A>C (p.D693A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025319" "0" "10" "7" "128482933" "128482933" "subst" "0" "02330" "FLNC_000931" "g.128482933C>T" "" "" "" "FLNC(NM_001458.5):c.2475C>T (p.D825=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025320" "0" "50" "7" "128483522" "128483522" "subst" "0" "02330" "FLNC_000932" "g.128483522A>T" "" "" "" "FLNC(NM_001458.5):c.2702A>T (p.K901M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025321" "0" "30" "7" "128484122" "128484122" "subst" "4.87797E-5" "02330" "FLNC_000608" "g.128484122A>G" "" "" "" "FLNC(NM_001458.5):c.2994A>G (p.Q998=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025322" "0" "30" "7" "128484336" "128484336" "subst" "0" "02330" "FLNC_000933" "g.128484336C>T" "" "" "" "FLNC(NM_001458.5):c.3192+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025323" "0" "30" "7" "128486025" "128486025" "subst" "4.09005E-6" "02330" "FLNC_000610" "g.128486025C>T" "" "" "" "FLNC(NM_001458.5):c.3791-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025324" "0" "50" "7" "128486357" "128486357" "subst" "8.15701E-6" "02326" "FLNC_000074" "g.128486357G>A" "" "" "" "FLNC(NM_001458.4):c.3967G>A (p.V1323M), FLNC(NM_001458.5):c.3967G>A (p.V1323M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025325" "0" "30" "7" "128486362" "128486362" "subst" "5.2948E-5" "02326" "FLNC_000934" "g.128486362T>C" "" "" "" "FLNC(NM_001458.4):c.3972T>C (p.H1324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025326" "0" "50" "7" "128486482" "128486482" "subst" "3.34325E-5" "02330" "FLNC_000509" "g.128486482G>C" "" "" "" "FLNC(NM_001458.5):c.4092G>C (p.L1364F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025327" "0" "10" "7" "128486811" "128486811" "subst" "0.000211749" "02330" "FLNC_000935" "g.128486811C>T" "" "" "" "FLNC(NM_001458.5):c.4140C>T (p.T1380=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025328" "0" "50" "7" "128486890" "128486890" "subst" "8.12308E-6" "02330" "FLNC_000385" "g.128486890G>A" "" "" "" "FLNC(NM_001458.5):c.4219G>A (p.V1407M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025329" "0" "30" "7" "128486940" "128486940" "subst" "2.84557E-5" "02325" "FLNC_000760" "g.128486940C>T" "" "" "" "FLNC(NM_001458.5):c.4269C>T (p.F1423=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025330" "0" "10" "7" "128487758" "128487758" "subst" "0.000117905" "02330" "FLNC_000079" "g.128487758G>A" "" "" "" "FLNC(NM_001458.4):c.4296G>A (p.P1432=), FLNC(NM_001458.5):c.4296G>A (p.P1432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025331" "0" "50" "7" "128488118" "128488118" "subst" "0" "02330" "FLNC_000613" "g.128488118C>G" "" "" "" "FLNC(NM_001458.4):c.4576C>G (p.R1526G), FLNC(NM_001458.5):c.4576C>G (p.R1526G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025332" "0" "50" "7" "128488749" "128488749" "subst" "4.07382E-6" "02325" "FLNC_000936" "g.128488749G>A" "" "" "" "FLNC(NM_001458.5):c.4715G>A (p.G1572E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025333" "0" "50" "7" "128488872" "128488872" "subst" "0.000158548" "02325" "FLNC_000261" "g.128488872C>G" "" "" "" "FLNC(NM_001458.4):c.4763C>G (p.A1588G), FLNC(NM_001458.5):c.4763C>G (p.A1588G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025334" "0" "30" "7" "128488877" "128488877" "subst" "0" "02327" "FLNC_000937" "g.128488877A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025335" "0" "30" "7" "128489593" "128489593" "subst" "3.66074E-5" "02330" "FLNC_000400" "g.128489593C>T" "" "" "" "FLNC(NM_001458.5):c.5160C>T (p.F1720=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025336" "0" "30" "7" "128490050" "128490050" "subst" "8.04028E-5" "02330" "FLNC_000938" "g.128490050C>T" "" "" "" "FLNC(NM_001458.5):c.5220C>T (p.H1740=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025337" "0" "50" "7" "128490958" "128490958" "subst" "3.24971E-5" "02330" "FLNC_000407" "g.128490958C>T" "" "" "" "FLNC(NM_001458.5):c.5500C>T (p.H1834Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025338" "0" "30" "7" "128491020" "128491024" "dup" "0" "02330" "FLNC_000939" "g.128491020_128491024dup" "" "" "" "FLNC(NM_001458.5):c.5539+20_5539+24dupGGGCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025339" "0" "90" "7" "128491575" "128491575" "del" "0" "02330" "FLNC_000940" "g.128491575del" "" "" "" "FLNC(NM_001458.5):c.5735delG (p.G1912Afs*41)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001025340" "0" "10" "7" "128491690" "128491690" "subst" "0.000305332" "02330" "FLNC_000941" "g.128491690G>A" "" "" "" "FLNC(NM_001458.5):c.5842+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025341" "0" "30" "7" "128492639" "128492639" "subst" "0.000114103" "02326" "FLNC_000942" "g.128492639C>G" "" "" "" "FLNC(NM_001458.4):c.5843-6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025342" "0" "10" "7" "128492868" "128492868" "subst" "0" "02330" "FLNC_000109" "g.128492868C>T" "" "" "" "FLNC(NM_001458.4):c.6005-14C>T, FLNC(NM_001458.5):c.6005-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025343" "0" "30" "7" "128494939" "128494939" "subst" "3.65631E-5" "02325" "FLNC_000130" "g.128494939G>A" "" "" "" "FLNC(NM_001458.4):c.7108G>A (p.G2370S), FLNC(NM_001458.5):c.7108G>A (p.G2370S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025344" "0" "50" "7" "128496576" "128496576" "subst" "0.000181493" "02325" "FLNC_000568" "g.128496576C>T" "" "" "" "FLNC(NM_001458.5):c.7256C>T (p.T2419M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025345" "0" "30" "7" "128498093" "128498093" "subst" "0" "02326" "ATP6V1F_000028" "g.128498093C>T" "" "" "" "FLNC(NM_001458.4):c.7812C>T (p.H2604=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025346" "0" "50" "7" "128498121" "128498121" "subst" "3.32903E-5" "02330" "ATP6V1F_000029" "g.128498121G>A" "" "" "" "FLNC(NM_001458.5):c.7840G>A (p.V2614M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025347" "0" "10" "7" "128498290" "128498290" "subst" "0" "02330" "ATP6V1F_000030" "g.128498290G>T" "" "" "" "FLNC(NM_001458.5):c.7990+19G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001030856" "0" "50" "7" "128498269" "128498269" "subst" "0" "03779" "FLNC_000943" "g.128498269C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0001030929" "0" "50" "7" "128498240" "128498242" "del" "0" "03779" "ATP6V1F_000021" "g.128498240_128498242del" "" "" "" "" "" "Unknown" "" "rs750089532" "0" "" "" "" "" "VUS" "" "0001030930" "0" "70" "7" "128494560" "128494560" "subst" "0" "03779" "FLNC_000944" "g.128494560A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001036111" "0" "50" "7" "128470944" "128470944" "subst" "0" "02326" "FLNC_000945" "g.128470944A>G" "" "" "" "FLNC(NM_001458.4):c.253A>G (p.K85E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036112" "0" "70" "7" "128475581" "128475581" "subst" "0" "02327" "FLNC_000594" "g.128475581G>A" "" "" "" "FLNC(NM_001458.4):c.554G>A (p.W185*), FLNC(NM_001458.5):c.554G>A (p.W185*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001036113" "0" "50" "7" "128477524" "128477524" "subst" "0" "02330" "FLNC_000946" "g.128477524C>T" "" "" "" "FLNC(NM_001458.5):c.772C>T (p.P258S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036114" "0" "50" "7" "128478336" "128478336" "subst" "0" "02327" "FLNC_000947" "g.128478336G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036115" "0" "30" "7" "128478661" "128478661" "subst" "7.79462E-5" "02330" "FLNC_000148" "g.128478661C>T" "" "" "" "FLNC(NM_001458.5):c.1215C>T (p.A405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036116" "0" "50" "7" "128480178" "128480178" "subst" "1.6252E-5" "01804" "FLNC_000204" "g.128480178G>A" "" "" "" "FLNC(NM_001458.5):c.1513G>A (p.G505S, p.(Gly505Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036117" "0" "50" "7" "128481334" "128481334" "subst" "3.6553E-5" "02325" "FLNC_000039" "g.128481334G>A" "" "" "" "FLNC(NM_001458.4):c.1924G>A (p.V642I), FLNC(NM_001458.5):c.1924G>A (p.V642I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036118" "0" "70" "7" "128481358" "128481358" "subst" "0" "02327" "FLNC_000215" "g.128481358C>T" "" "" "" "FLNC(NM_001458.4):c.1948C>T (p.R650*), FLNC(NM_001458.5):c.1948C>T (p.R650*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001036119" "0" "50" "7" "128482889" "128482889" "subst" "0" "02325" "FLNC_000948" "g.128482889G>C" "" "" "" "FLNC(NM_001458.5):c.2431G>C (p.G811R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036120" "0" "10" "7" "128483300" "128483300" "subst" "0.00050531" "02330" "FLNC_000696" "g.128483300C>T" "" "" "" "FLNC(NM_001458.5):c.2568C>T (p.P856=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001036121" "0" "50" "7" "128484760" "128484760" "subst" "2.44105E-5" "02330" "FLNC_000949" "g.128484760G>A" "" "" "" "FLNC(NM_001458.5):c.3241G>A (p.A1081T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036122" "0" "30" "7" "128484968" "128484968" "subst" "7.31559E-5" "01804" "FLNC_000377" "g.128484968G>A" "" "" "" "FLNC(NM_001458.5):c.3449G>A (p.R1150Q, p.(Arg1150Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036123" "0" "30" "7" "128486028" "128486028" "subst" "4.0866E-6" "02330" "FLNC_000950" "g.128486028C>T" "" "" "" "FLNC(NM_001458.5):c.3791-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036124" "0" "50" "7" "128486444" "128486444" "subst" "2.05019E-5" "02325" "FLNC_000244" "g.128486444C>T" "" "" "" "FLNC(NM_001458.4):c.4054C>T (p.R1352C), FLNC(NM_001458.5):c.4054C>T (p.R1352C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036125" "0" "50" "7" "128489402" "128489402" "subst" "0" "01804" "FLNC_000951" "g.128489402C>G" "" "" "" "FLNC(NM_001458.5):c.4969C>G (p.(Arg1657Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036126" "0" "30" "7" "128492691" "128492691" "subst" "0.000439958" "01804" "FLNC_000952" "g.128492691G>A" "" "" "" "FLNC(NM_001458.5):c.5889G>A (p.(Thr1963=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036127" "0" "30" "7" "128492756" "128492756" "subst" "0.00021168" "02326" "FLNC_000412" "g.128492756C>T" "" "" "" "FLNC(NM_001127487.1):c.5855C>T (p.(Ser1952Leu)), FLNC(NM_001458.4):c.5954C>T (p.S1985L), FLNC(NM_001458.5):c.5954C>T (p.S1985L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036128" "0" "10" "7" "128492873" "128492873" "subst" "0.00830902" "01804" "FLNC_000157" "g.128492873T>C" "" "" "" "FLNC(NM_001458.4):c.6005-9T>C, FLNC(NM_001458.5):c.6005-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001036129" "0" "50" "7" "128492929" "128492929" "subst" "1.21869E-5" "02325" "FLNC_000587" "g.128492929C>T" "" "" "" "FLNC(NM_001458.4):c.6052C>T (p.R2018C), FLNC(NM_001458.5):c.6052C>T (p.R2018C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036130" "0" "50" "7" "128494231" "128494231" "subst" "8.3167E-6" "02327" "FLNC_000953" "g.128494231C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036131" "0" "30" "7" "128494258" "128494258" "subst" "4.62492E-5" "02325" "FLNC_000725" "g.128494258C>T" "" "" "" "FLNC(NM_001458.4):c.6715C>T (p.R2239W), FLNC(NM_001458.5):c.6715C>T (p.R2239W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036132" "0" "50" "7" "128496837" "128496837" "subst" "2.84278E-5" "02326" "FLNC_000317" "g.128496837G>A" "" "" "" "FLNC(NM_001458.4):c.7423G>A (p.V2475I), FLNC(NM_001458.5):c.7423G>A (p.V2475I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036133" "0" "30" "7" "128496993" "128496993" "subst" "0" "02330" "FLNC_000954" "g.128496993G>A" "" "" "" "FLNC(NM_001458.5):c.7561+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045159" "0" "70" "7" "128844045" "128844045" "subst" "0" "00006" "FLNC_000490" "g.128844045C>T" "1/60 cases" "{PMID:Cao 2025:40364824}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.128484099C>T" "" "likely pathogenic" "" "0001046098" "0" "90" "7" "128475581" "128475581" "subst" "0" "02326" "FLNC_000594" "g.128475581G>A" "" "" "" "FLNC(NM_001458.4):c.554G>A (p.W185*), FLNC(NM_001458.5):c.554G>A (p.W185*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001046099" "0" "50" "7" "128481295" "128481295" "subst" "2.43708E-5" "02325" "FLNC_000149" "g.128481295C>T" "" "" "" "FLNC(NM_001458.4):c.1885C>T (p.R629W), FLNC(NM_001458.5):c.1885C>T (p.R629W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046100" "0" "30" "7" "128482625" "128482625" "subst" "3.42025E-5" "01804" "FLNC_000663" "g.128482625G>A" "" "" "" "FLNC(NM_001127487.1):c.2266-4G>A (p.?), FLNC(NM_001458.4):c.2266-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046101" "0" "90" "7" "128484099" "128484099" "subst" "0" "02326" "FLNC_000490" "g.128484099C>T" "" "" "" "FLNC(NM_001458.4):c.2971C>T (p.R991*), FLNC(NM_001458.5):c.2971C>T (p.R991*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001046102" "0" "50" "7" "128486447" "128486447" "subst" "4.10327E-6" "02325" "FLNC_000955" "g.128486447G>A" "" "" "" "FLNC(NM_001458.5):c.4057G>A (p.V1353I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046103" "0" "50" "7" "128488880" "128488880" "subst" "4.06659E-5" "01804" "FLNC_000956" "g.128488880C>T" "" "" "" "FLNC(NM_001127487.1):c.4771C>T (p.(Arg1591Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046104" "0" "50" "7" "128490108" "128490108" "subst" "0.000185447" "02325" "FLNC_000530" "g.128490108G>A" "" "" "" "FLNC(NM_001458.4):c.5278G>A (p.G1760S), FLNC(NM_001458.5):c.5278G>A (p.G1760S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046105" "0" "50" "7" "128490451" "128490451" "subst" "0" "02325" "FLNC_000957" "g.128490451C>G" "" "" "" "FLNC(NM_001458.5):c.5312C>G (p.P1771R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046106" "0" "50" "7" "128498572" "128498572" "subst" "0" "02327" "ATP6V1F_000015" "g.128498572C>A" "" "" "" "FLNC(NM_001458.5):c.8173C>A (p.P2725T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046978" "0" "90" "7" "128484254" "128484254" "subst" "0" "03779" "FLNC_000958" "g.128484254C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0001046980" "0" "50" "7" "128491599" "128491599" "subst" "8.12189E-6" "03779" "FLNC_000959" "g.128491599C>T" "" "" "" "" "" "Unknown" "" "rs199714090" "0" "" "" "" "" "VUS" "" "0001046997" "0" "50" "7" "128494684" "128494684" "subst" "0" "03779" "FLNC_000960" "g.128494684C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0001047034" "0" "50" "7" "128492929" "128492929" "subst" "0" "03779" "FLNC_000961" "g.128492929C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0001047073" "0" "50" "7" "128493598" "128493598" "subst" "0" "01164" "FLNC_000962" "g.128493598C>T" "" "" "" "" "ACMG: PM2_SUP, PP2, PP3_MOD" "Germline" "?" "" "" "" "" "g.128853544C>T" "" "VUS" "ACMG" "0001047244" "0" "50" "7" "128484142" "128484142" "subst" "4.06967E-6" "03779" "FLNC_000963" "g.128484142C>T" "" "" "" "" "" "Unknown" "" "rs752448040" "0" "" "" "" "" "VUS" "" "0001048403" "0" "70" "7" "128483910" "128483910" "del" "0" "03779" "FLNC_000167" "g.128483910del" "" "" "" "" "" "Unknown" "" "rs1401551498" "0" "" "" "" "" "likely pathogenic" "" ## 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 FLNC ## Count = 1646 "{{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}}" "{{VariantOnTranscript/Protein/Domain}}" "0000079506" "00024072" "00" "-7470628" "0" "7083560" "0" "c.-7470628_*7075382del" "r.0?" "p.0?" "" "" "0000082974" "00024072" "90" "8130" "0" "8130" "0" "c.8130G>A" "r.(?)" "p.(Trp2710*)" "48" "dimerization, Ig-like 24" "0000083013" "00024072" "90" "2695" "0" "2712" "0" "c.2695_2712delinsGTTTGT" "r.(?)" "p.(Lys899_Val904delinsValCys)" "18" "ROD1, Ig-like 7" "0000083016" "00024072" "50" "2686" "0" "2686" "0" "c.2686G>A" "r.(?)" "p.(Gly896Arg)" "18" "" "0000083017" "00024072" "90" "7688" "0" "7688" "0" "c.7688A>G" "r.(?)" "p.(Tyr2563Cys)" "46" "" "0000083018" "00024072" "70" "3557" "0" "3557" "0" "c.3557C>T" "r.(?)" "p.(Ala1186Val)" "21" "" "0000083021" "00024072" "50" "3557" "0" "3557" "0" "c.3557C>T" "r.(?)" "p.(Ala1186Val)" "21" "" "0000083022" "00024072" "70" "4871" "0" "4871" "0" "c.4871C>T" "r.(?)" "p.(Ser1624Leu)" "28" "" "0000083023" "00024072" "70" "6478" "0" "6478" "0" "c.6478A>T" "r.(?)" "p.(Ile2160Phe)" "39" "" "0000083024" "00024072" "90" "2789" "0" "2800" "0" "c.2789_2800del" "r.2789_2800del" "p.Val930_Thr933del" "18" "ROD1, Ig-like 7" "0000083025" "00024072" "50" "8130" "0" "8130" "0" "c.8130G>A" "r.(?)" "p.(Trp2710*)" "48" "" "0000234248" "00024072" "70" "1546" "0" "1546" "0" "c.1546C>A" "r.(?)" "p.(Pro516Thr)" "9" "" "0000246553" "00024072" "10" "6771" "0" "6771" "0" "c.6771A>G" "r.(?)" "p.(Pro2257=)" "" "" "0000246580" "00024072" "10" "3297" "0" "3297" "0" "c.3297A>G" "r.(?)" "p.(Val1099=)" "" "" "0000246605" "00024072" "10" "8179" "0" "8179" "0" "c.*1A>G" "r.(=)" "p.(=)" "" "" "0000246654" "00024072" "50" "3506" "0" "3506" "0" "c.3506A>G" "r.(?)" "p.(Lys1169Arg)" "" "" "0000250708" "00024072" "10" "7780" "10" "7780" "10" "c.7780+10A>G" "r.(=)" "p.(=)" "" "" "0000251925" "00024072" "30" "1108" "0" "1108" "0" "c.1108A>G" "r.(?)" "p.(Met370Val)" "" "" "0000252661" "00024072" "50" "7814" "0" "7814" "0" "c.7814A>G" "r.(?)" "p.(Glu2605Gly)" "" "" "0000252662" "00024072" "50" "1094" "0" "1094" "0" "c.1094A>G" "r.(?)" "p.(Glu365Gly)" "" "" "0000252764" "00024072" "50" "2993" "0" "2993" "0" "c.2993A>T" "r.(?)" "p.(Gln998Leu)" "" "" "0000252776" "00024072" "50" "3259" "0" "3259" "0" "c.3259A>C" "r.(?)" "p.(Thr1087Pro)" "" "" "0000253060" "00024072" "10" "7780" "10" "7780" "10" "c.7780+10A>G" "r.(=)" "p.(=)" "" "" "0000253353" "00024072" "10" "6771" "0" "6771" "0" "c.6771A>G" "r.(?)" "p.(Pro2257=)" "" "" "0000256646" "00024072" "50" "4556" "0" "4556" "0" "c.4556A>G" "r.(?)" "p.(Tyr1519Cys)" "" "" "0000276770" "00024072" "10" "1032" "0" "1032" "0" "c.1032C>T" "r.(?)" "p.(Val344=)" "" "" "0000276771" "00024072" "10" "1374" "0" "1374" "0" "c.1374C>T" "r.(?)" "p.(Pro458=)" "" "" "0000276772" "00024072" "10" "1434" "0" "1434" "0" "c.1434C>T" "r.(?)" "p.(Arg478=)" "" "" "0000276773" "00024072" "10" "1458" "0" "1458" "0" "c.1458C>A" "r.(?)" "p.(Pro486=)" "" "" "0000276774" "00024072" "10" "147" "0" "147" "0" "c.147C>T" "r.(?)" "p.(His49=)" "" "" "0000276775" "00024072" "10" "1549" "15" "1549" "15" "c.1549+15C>A" "r.(=)" "p.(=)" "" "" "0000276776" "00024072" "10" "1614" "0" "1614" "0" "c.1614C>T" "r.(?)" "p.(Tyr538=)" "" "" "0000276777" "00024072" "10" "1902" "0" "1902" "0" "c.1902G>A" "r.(?)" "p.(Glu634=)" "" "" "0000276778" "00024072" "10" "2122" "-17" "2122" "-17" "c.2122-17T>C" "r.(=)" "p.(=)" "" "" "0000276779" "00024072" "10" "2265" "12" "2265" "12" "c.2265+12C>G" "r.(=)" "p.(=)" "" "" "0000276780" "00024072" "10" "2266" "-14" "2266" "-14" "c.2266-14G>C" "r.(=)" "p.(=)" "" "" "0000276781" "00024072" "10" "2390" "-13" "2390" "-13" "c.2390-13C>T" "r.(=)" "p.(=)" "" "" "0000276782" "00024072" "10" "2390" "-9" "2390" "-9" "c.2390-9T>C" "r.(=)" "p.(=)" "" "" "0000276783" "00024072" "10" "2501" "0" "2501" "0" "c.2501C>T" "r.(?)" "p.(Thr834Met)" "" "" "0000276784" "00024072" "30" "3721" "0" "3721" "0" "c.3721C>T" "r.(?)" "p.(Arg1241Cys)" "" "" "0000276785" "00024072" "10" "3757" "0" "3757" "0" "c.3757G>A" "r.(?)" "p.(Val1253Ile)" "" "" "0000276786" "00024072" "10" "3791" "-18" "3791" "-18" "c.3791-18G>A" "r.(=)" "p.(=)" "" "" "0000276787" "00024072" "10" "3838" "0" "3838" "0" "c.3838C>T" "r.(?)" "p.(Leu1280=)" "" "" "0000276789" "00024072" "10" "3973" "0" "3973" "0" "c.3973C>T" "r.(?)" "p.(Leu1325=)" "" "" "0000276790" "00024072" "10" "4022" "0" "4022" "0" "c.4022G>A" "r.(?)" "p.(Arg1341Gln)" "" "" "0000276791" "00024072" "10" "4056" "0" "4056" "0" "c.4056C>T" "r.(?)" "p.(Arg1352=)" "" "" "0000276792" "00024072" "10" "4302" "0" "4302" "0" "c.4302C>T" "r.(?)" "p.(Arg1434=)" "" "" "0000276793" "00024072" "10" "4404" "0" "4404" "0" "c.4404=" "r.(=)" "p.(Asp1468=)" "" "" "0000276794" "00024072" "10" "4431" "0" "4431" "0" "c.4431G>A" "r.(?)" "p.(Leu1477=)" "" "" "0000276795" "00024072" "10" "4700" "0" "4700" "0" "c.4700G>A" "r.(?)" "p.(Arg1567Gln)" "" "" "0000276796" "00024072" "50" "4811" "0" "4811" "0" "c.4811C>T" "r.(?)" "p.(Pro1604Leu)" "" "" "0000276797" "00024072" "10" "4928" "-7" "4928" "-7" "c.4928-7T>C" "r.(=)" "p.(=)" "" "" "0000276798" "00024072" "10" "5042" "0" "5042" "0" "c.5042C>G" "r.(?)" "p.(Thr1681Arg)" "" "" "0000276799" "00024072" "10" "5398" "16" "5398" "16" "c.5398+16T>C" "r.(=)" "p.(=)" "" "" "0000276800" "00024072" "10" "5399" "-17" "5399" "-17" "c.5399-17C>T" "r.(=)" "p.(=)" "" "" "0000276801" "00024072" "10" "5592" "0" "5592" "0" "c.5592C>T" "r.(?)" "p.(Ala1864=)" "" "" "0000276802" "00024072" "10" "5669" "-12" "5669" "-12" "c.5669-12C>T" "r.(=)" "p.(=)" "" "" "0000276803" "00024072" "10" "5763" "0" "5763" "0" "c.5763T>C" "r.(?)" "p.(Thr1921=)" "" "" "0000276804" "00024072" "10" "602" "-16" "602" "-16" "c.602-16T>A" "r.(=)" "p.(=)" "" "" "0000276805" "00024072" "30" "6175" "0" "6175" "0" "c.6175G>A" "r.(?)" "p.(Val2059Met)" "" "" "0000276806" "00024072" "10" "6309" "0" "6309" "0" "c.6309C>T" "r.(?)" "p.(Thr2103=)" "" "" "0000276807" "00024072" "10" "6459" "0" "6459" "0" "c.6459C>T" "r.(?)" "p.(Thr2153=)" "" "" "0000276808" "00024072" "30" "6808" "0" "6808" "0" "c.6808G>A" "r.(?)" "p.(Glu2270Lys)" "" "" "0000276809" "00024072" "50" "6824" "0" "6824" "0" "c.6824G>T" "r.(?)" "p.(Ser2275Ile)" "" "" "0000276810" "00024072" "50" "6877" "0" "6877" "0" "c.6877C>T" "r.(?)" "p.(Arg2293Cys)" "" "" "0000276811" "00024072" "90" "697" "0" "697" "0" "c.697C>T" "r.(?)" "p.(Gln233Ter)" "" "" "0000276812" "00024072" "10" "7091" "0" "7091" "0" "c.7091G>A" "r.(?)" "p.(Arg2364His)" "" "" "0000276813" "00024072" "10" "720" "0" "720" "0" "c.720T>C" "r.(?)" "p.(Ile240=)" "" "" "0000276814" "00024072" "10" "7221" "0" "7221" "0" "c.7221C>T" "r.(?)" "p.(Asp2407=)" "" "" "0000276815" "00024072" "10" "795" "0" "795" "0" "c.795T>C" "r.(?)" "p.(Gly265=)" "" "" "0000276816" "00024072" "10" "7991" "-19" "7991" "-19" "c.7991-19C>T" "r.(=)" "p.(=)" "" "" "0000276817" "00024072" "10" "8118" "0" "8118" "0" "c.8118C>T" "r.(?)" "p.(Leu2706=)" "" "" "0000276818" "00024072" "10" "850" "18" "850" "18" "c.850+18G>A" "r.(=)" "p.(=)" "" "" "0000276819" "00024072" "10" "96" "0" "96" "0" "c.96G>A" "r.(?)" "p.(Ala32=)" "" "" "0000280833" "00024072" "10" "4404" "0" "4404" "0" "c.4404=" "r.(=)" "p.(Asp1468=)" "" "" "0000283991" "00024072" "30" "-87" "0" "-87" "0" "c.-87C>G" "r.(?)" "p.(=)" "" "" "0000283993" "00024072" "30" "1081" "0" "1081" "0" "c.1081C>T" "r.(?)" "p.(Arg361Cys)" "" "" "0000283994" "00024072" "10" "1458" "0" "1458" "0" "c.1458C>A" "r.(?)" "p.(Pro486=)" "" "" "0000283995" "00024072" "50" "1471" "0" "1471" "0" "c.1471G>A" "r.(?)" "p.(Val491Met)" "" "" "0000283996" "00024072" "10" "1549" "15" "1549" "15" "c.1549+15C>A" "r.(=)" "p.(=)" "" "" "0000283997" "00024072" "50" "1605" "0" "1605" "0" "c.1605C>T" "r.(?)" "p.(Cys535=)" "" "" "0000283998" "00024072" "50" "1673" "0" "1673" "0" "c.1673G>A" "r.(?)" "p.(Arg558His)" "" "" "0000283999" "00024072" "50" "1924" "0" "1924" "0" "c.1924G>A" "r.(?)" "p.(Val642Ile)" "" "" "0000284000" "00024072" "30" "2125" "0" "2125" "0" "c.2125G>A" "r.(?)" "p.(Ala709Thr)" "" "" "0000284001" "00024072" "30" "2128" "0" "2128" "0" "c.2128G>A" "r.(?)" "p.(Asp710Asn)" "" "" "0000284002" "00024072" "30" "2389" "12" "2389" "12" "c.2389+12C>T" "r.(=)" "p.(=)" "" "" "0000284003" "00024072" "10" "2390" "-13" "2390" "-13" "c.2390-13C>T" "r.(=)" "p.(=)" "" "" "0000284004" "00024072" "10" "2390" "-14" "2390" "-14" "c.2390-14C>T" "r.(=)" "p.(=)" "" "" "0000284005" "00024072" "30" "2390" "-8" "2390" "-8" "c.2390-8C>G" "r.(=)" "p.(=)" "" "" "0000284006" "00024072" "10" "2390" "-9" "2390" "-9" "c.2390-9T>C" "r.(=)" "p.(=)" "" "" "0000284007" "00024072" "50" "2425" "0" "2425" "0" "c.2425G>A" "r.(?)" "p.(Val809Met)" "" "" "0000284008" "00024072" "30" "2501" "0" "2501" "0" "c.2501C>T" "r.(?)" "p.(Thr834Met)" "" "" "0000284009" "00024072" "30" "2551" "-19" "2551" "-19" "c.2551-19G>C" "r.(=)" "p.(=)" "" "" "0000284010" "00024072" "30" "2617" "0" "2617" "0" "c.2617G>A" "r.(?)" "p.(Glu873Lys)" "" "" "0000284011" "00024072" "50" "2627" "0" "2627" "0" "c.2627G>T" "r.(?)" "p.(Gly876Val)" "" "" "0000284012" "00024072" "10" "2889" "0" "2889" "0" "c.2889G>A" "r.(?)" "p.(Pro963=)" "" "" "0000284013" "00024072" "50" "3004" "0" "3004" "0" "c.3004C>T" "r.(?)" "p.(Arg1002Trp)" "" "" "0000284014" "00024072" "50" "3022" "0" "3022" "0" "c.3022C>T" "r.(?)" "p.(Arg1008Cys)" "" "" "0000284015" "00024072" "30" "3153" "0" "3153" "0" "c.3153G>A" "r.(?)" "p.(Pro1051=)" "" "" "0000284016" "00024072" "10" "3721" "0" "3721" "0" "c.3721C>T" "r.(?)" "p.(Arg1241Cys)" "" "" "0000284017" "00024072" "10" "3765" "0" "3765" "0" "c.3765C>A" "r.(?)" "p.(Val1255=)" "" "" "0000284018" "00024072" "30" "3938" "0" "3938" "0" "c.3938G>A" "r.(?)" "p.(Arg1313Gln)" "" "" "0000284019" "00024072" "30" "4022" "0" "4022" "0" "c.4022G>A" "r.(?)" "p.(Arg1341Gln)" "" "" "0000284020" "00024072" "30" "4153" "0" "4153" "0" "c.4153C>T" "r.(?)" "p.(Leu1385=)" "" "" "0000284021" "00024072" "30" "4296" "0" "4296" "0" "c.4296G>A" "r.(?)" "p.(Pro1432=)" "" "" "0000284023" "00024072" "10" "4404" "0" "4404" "0" "c.4404=" "r.(=)" "p.(Asp1468=)" "" "" "0000284024" "00024072" "50" "4418" "0" "4418" "0" "c.4418G>A" "r.(?)" "p.(Gly1473Asp)" "" "" "0000284025" "00024072" "50" "4481" "0" "4481" "0" "c.4481G>A" "r.(?)" "p.(Arg1494Gln)" "" "" "0000284026" "00024072" "50" "4705" "0" "4705" "0" "c.4705G>A" "r.(?)" "p.(Ala1569Thr)" "" "" "0000284027" "00024072" "30" "4728" "0" "4728" "0" "c.4728C>T" "r.(?)" "p.(Val1576=)" "" "" "0000284028" "00024072" "50" "4741" "0" "4741" "0" "c.4741C>A" "r.(?)" "p.(Pro1581Thr)" "" "" "0000284029" "00024072" "30" "4928" "-7" "4928" "-7" "c.4928-7T>C" "r.(=)" "p.(=)" "" "" "0000284030" "00024072" "10" "4947" "0" "4947" "0" "c.4947C>T" "r.(?)" "p.(Gly1649=)" "" "" "0000284031" "00024072" "30" "4991" "0" "4991" "0" "c.4991C>T" "r.(?)" "p.(Thr1664Met)" "" "" "0000284032" "00024072" "30" "5273" "0" "5273" "0" "c.5273G>A" "r.(?)" "p.(Arg1758Gln)" "" "" "0000284033" "00024072" "30" "5399" "-17" "5399" "-17" "c.5399-17C>T" "r.(=)" "p.(=)" "" "" "0000284034" "00024072" "30" "5578" "0" "5578" "0" "c.5578C>T" "r.(?)" "p.(Arg1860Cys)" "" "" "0000284035" "00024072" "10" "561" "0" "561" "0" "c.561C>T" "r.(?)" "p.(Asp187=)" "" "" "0000284036" "00024072" "10" "5669" "-12" "5669" "-12" "c.5669-12C>T" "r.(=)" "p.(=)" "" "" "0000284037" "00024072" "10" "5766" "0" "5766" "0" "c.5766G>A" "r.(?)" "p.(Ala1922=)" "" "" "0000284038" "00024072" "30" "5791" "0" "5791" "0" "c.5791C>T" "r.(?)" "p.(Arg1931Cys)" "" "" "0000284039" "00024072" "30" "597" "0" "597" "0" "c.597C>T" "r.(?)" "p.(Ala199=)" "" "" "0000284040" "00024072" "10" "6004" "11" "6004" "11" "c.6004+11G>A" "r.(=)" "p.(=)" "" "" "0000284041" "00024072" "30" "6005" "-14" "6005" "-14" "c.6005-14C>T" "r.(=)" "p.(=)" "" "" "0000284042" "00024072" "30" "602" "-16" "602" "-16" "c.602-16T>A" "r.(=)" "p.(=)" "" "" "0000284043" "00024072" "70" "6100" "0" "6100" "0" "c.6100G>C" "r.(?)" "p.(Gly2034Arg)" "" "" "0000284044" "00024072" "30" "6175" "0" "6175" "0" "c.6175G>A" "r.(?)" "p.(Val2059Met)" "" "" "0000284045" "00024072" "10" "6309" "0" "6309" "0" "c.6309C>T" "r.(?)" "p.(Thr2103=)" "" "" "0000284046" "00024072" "30" "6387" "0" "6387" "0" "c.6387C>T" "r.(?)" "p.(Thr2129=)" "" "" "0000284047" "00024072" "70" "6614" "0" "6622" "0" "c.6614_6622del" "r.(?)" "p.(Val2205_Val2207del)" "" "" "0000284048" "00024072" "30" "6633" "0" "6633" "0" "c.6633C>T" "r.(?)" "p.(Thr2211=)" "" "" "0000284049" "00024072" "30" "6727" "88" "6727" "88" "c.6727+88G>A" "r.(=)" "p.(=)" "" "" "0000284050" "00024072" "50" "6825" "0" "6825" "0" "c.6825C>A" "r.(?)" "p.(Ser2275Arg)" "" "" "0000284051" "00024072" "30" "6864" "0" "6864" "0" "c.6864C>T" "r.(?)" "p.(Val2288=)" "" "" "0000284052" "00024072" "30" "6988" "0" "6988" "0" "c.6988G>A" "r.(?)" "p.(Gly2330Ser)" "" "" "0000284053" "00024072" "30" "7108" "0" "7108" "0" "c.7108G>A" "r.(?)" "p.(Gly2370Ser)" "" "" "0000284054" "00024072" "30" "7609" "0" "7609" "0" "c.7609G>A" "r.(?)" "p.(Ala2537Thr)" "" "" "0000284055" "00024072" "30" "7636" "0" "7636" "0" "c.7636T>A" "r.(?)" "p.(Ser2546Thr)" "" "" "0000284056" "00024072" "30" "7657" "0" "7657" "0" "c.7657C>T" "r.(?)" "p.(Arg2553Trp)" "" "" "0000284057" "00024072" "50" "7678" "0" "7678" "0" "c.7678G>A" "r.(?)" "p.(Val2560Met)" "" "" "0000284058" "00024072" "30" "7794" "0" "7794" "0" "c.7794C>T" "r.(?)" "p.(Ser2598=)" "" "" "0000284059" "00024072" "30" "969" "14" "969" "14" "c.969+14G>T" "r.(=)" "p.(=)" "" "" "0000284060" "00024072" "30" "96" "0" "96" "0" "c.96G>A" "r.(?)" "p.(Ala32=)" "" "" "0000287756" "00024072" "50" "1225" "0" "1225" "0" "c.1225G>A" "r.(?)" "p.(Asp409Asn)" "" "" "0000287757" "00024072" "50" "1886" "0" "1886" "0" "c.1886G>A" "r.(?)" "p.(Arg629Gln)" "" "" "0000287758" "00024072" "30" "1902" "0" "1902" "0" "c.1902G>A" "r.(?)" "p.(Glu634=)" "" "" "0000287759" "00024072" "30" "2180" "0" "2180" "0" "c.2180G>A" "r.(?)" "p.(Arg727His)" "" "" "0000287760" "00024072" "30" "2390" "-9" "2390" "-9" "c.2390-9T>C" "r.(=)" "p.(=)" "" "" "0000287761" "00024072" "30" "2403" "0" "2403" "0" "c.2403C>T" "r.(?)" "p.(Ile801=)" "" "" "0000287762" "00024072" "30" "3062" "0" "3062" "0" "c.3062C>T" "r.(?)" "p.(Ala1021Val)" "" "" "0000287763" "00024072" "10" "3964" "9" "3964" "9" "c.3964+9C>T" "r.(=)" "p.(=)" "" "" "0000287764" "00024072" "10" "4302" "0" "4302" "0" "c.4302C>T" "r.(?)" "p.(Arg1434=)" "" "" "0000287765" "00024072" "30" "4581" "-5" "4581" "-5" "c.4581-5T>A" "r.spl?" "p.?" "" "" "0000287766" "00024072" "10" "4737" "9" "4737" "10" "c.4737+9_4737+10del" "r.(=)" "p.(=)" "" "" "0000287767" "00024072" "50" "4880" "0" "4880" "0" "c.4880G>T" "r.(?)" "p.(Arg1627Leu)" "" "" "0000287768" "00024072" "10" "4928" "-7" "4928" "-7" "c.4928-7T>C" "r.(=)" "p.(=)" "" "" "0000287769" "00024072" "30" "5578" "0" "5578" "0" "c.5578C>T" "r.(?)" "p.(Arg1860Cys)" "" "" "0000287770" "00024072" "30" "597" "0" "597" "0" "c.597C>T" "r.(?)" "p.(Ala199=)" "" "" "0000287771" "00024072" "50" "6133" "0" "6133" "0" "c.6133C>T" "r.(?)" "p.(Arg2045Trp)" "" "" "0000287772" "00024072" "50" "6205" "0" "6205" "0" "c.6205G>A" "r.(?)" "p.(Ala2069Thr)" "" "" "0000287773" "00024072" "30" "7947" "0" "7947" "0" "c.7947C>T" "r.(?)" "p.(Phe2649=)" "" "" "0000331861" "00024072" "50" "977" "0" "977" "0" "c.977T>C" "r.(?)" "p.(Val326Ala)" "" "" "0000331862" "00024072" "30" "1470" "0" "1470" "0" "c.1470C>T" "r.(?)" "p.(Arg490=)" "" "" "0000331863" "00024072" "30" "1549" "15" "1549" "15" "c.1549+15C>A" "r.(=)" "p.(=)" "" "" "0000331864" "00024072" "30" "1577" "0" "1577" "0" "c.1577G>A" "r.(?)" "p.(Arg526Gln)" "" "" "0000331865" "00024072" "30" "1614" "0" "1614" "0" "c.1614C>T" "r.(?)" "p.(Tyr538=)" "" "" "0000331866" "00024072" "30" "1902" "0" "1902" "0" "c.1902G>A" "r.(?)" "p.(Glu634=)" "" "" "0000331868" "00024072" "30" "2390" "-14" "2390" "-14" "c.2390-14C>T" "r.(=)" "p.(=)" "" "" "0000331869" "00024072" "30" "2390" "-13" "2390" "-13" "c.2390-13C>T" "r.(=)" "p.(=)" "" "" "0000331871" "00024072" "30" "3838" "0" "3838" "0" "c.3838C>T" "r.(?)" "p.(Leu1280=)" "" "" "0000331872" "00024072" "30" "4928" "-7" "4928" "-7" "c.4928-7T>C" "r.(=)" "p.(=)" "" "" "0000331873" "00024072" "30" "5578" "0" "5578" "0" "c.5578C>T" "r.(?)" "p.(Arg1860Cys)" "" "" "0000331874" "00024072" "30" "5669" "-12" "5669" "-12" "c.5669-12C>T" "r.(=)" "p.(=)" "" "" "0000331875" "00024072" "30" "6004" "19" "6004" "19" "c.6004+19G>A" "r.(=)" "p.(=)" "" "" "0000331877" "00024072" "30" "7038" "0" "7038" "0" "c.7038C>A" "r.(?)" "p.(Gly2346=)" "" "" "0000331878" "00024072" "50" "7091" "0" "7091" "0" "c.7091G>A" "r.(?)" "p.(Arg2364His)" "" "" "0000337100" "00024072" "30" "-57" "0" "-57" "0" "c.-57C>T" "r.(?)" "p.(=)" "" "" "0000337101" "00024072" "10" "850" "18" "850" "18" "c.850+18G>A" "r.(=)" "p.(=)" "" "" "0000337102" "00024072" "50" "1211" "-5" "1211" "-5" "c.1211-5G>A" "r.spl?" "p.?" "" "" "0000337103" "00024072" "10" "1549" "15" "1549" "15" "c.1549+15C>A" "r.(=)" "p.(=)" "" "" "0000337104" "00024072" "10" "2122" "-17" "2122" "-17" "c.2122-17T>C" "r.(=)" "p.(=)" "" "" "0000337105" "00024072" "10" "2265" "12" "2265" "12" "c.2265+12C>G" "r.(=)" "p.(=)" "" "" "0000337106" "00024072" "10" "5398" "16" "5398" "16" "c.5398+16T>C" "r.(=)" "p.(=)" "" "" "0000337107" "00024072" "10" "6004" "19" "6004" "19" "c.6004+19G>A" "r.(=)" "p.(=)" "" "" "0000337108" "00024072" "10" "6005" "-9" "6005" "-9" "c.6005-9T>C" "r.(=)" "p.(=)" "" "" "0000337109" "00024072" "10" "8295" "0" "8295" "0" "c.*117A>C" "r.(=)" "p.(=)" "" "" "0000337110" "00024072" "10" "8298" "0" "8299" "0" "c.*120_*121insT" "r.(=)" "p.(=)" "" "" "0000339190" "00024072" "10" "4431" "0" "4431" "0" "c.4431G>A" "r.(?)" "p.(Leu1477=)" "" "" "0000339365" "00024072" "10" "147" "0" "147" "0" "c.147C>T" "r.(?)" "p.(His49=)" "" "" "0000339366" "00024072" "10" "720" "0" "720" "0" "c.720T>C" "r.(?)" "p.(Ile240=)" "" "" "0000339367" "00024072" "10" "795" "0" "795" "0" "c.795T>C" "r.(?)" "p.(Gly265=)" "" "" "0000339368" "00024072" "10" "1032" "0" "1032" "0" "c.1032C>T" "r.(?)" "p.(Val344=)" "" "" "0000339369" "00024072" "10" "1614" "0" "1614" "0" "c.1614C>T" "r.(?)" "p.(Tyr538=)" "" "" "0000339370" "00024072" "30" "2733" "0" "2733" "0" "c.2733G>A" "r.(?)" "p.(Lys911=)" "" "" "0000339371" "00024072" "10" "3297" "0" "3297" "0" "c.3297A>G" "r.(?)" "p.(Val1099=)" "" "" "0000339372" "00024072" "10" "3838" "0" "3838" "0" "c.3838C>T" "r.(?)" "p.(Leu1280=)" "" "" "0000339373" "00024072" "10" "3973" "0" "3973" "0" "c.3973C>T" "r.(?)" "p.(Leu1325=)" "" "" "0000339374" "00024072" "10" "4056" "0" "4056" "0" "c.4056C>T" "r.(?)" "p.(Arg1352=)" "" "" "0000339375" "00024072" "10" "5763" "0" "5763" "0" "c.5763T>C" "r.(?)" "p.(Thr1921=)" "" "" "0000339376" "00024072" "10" "7221" "0" "7221" "0" "c.7221C>T" "r.(?)" "p.(Asp2407=)" "" "" "0000340650" "00024072" "30" "1215" "0" "1215" "0" "c.1215C>T" "r.(?)" "p.(Ala405=)" "" "" "0000340768" "00024072" "10" "1902" "0" "1902" "0" "c.1902G>A" "r.(?)" "p.(Glu634=)" "" "" "0000341131" "00024072" "90" "3557" "0" "3557" "0" "c.3557C>T" "r.(?)" "p.(Ala1186Val)" "" "" "0000341243" "00024072" "70" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Ala193Thr)" "" "" "0000343189" "00024072" "50" "1885" "0" "1885" "0" "c.1885C>T" "r.(?)" "p.(Arg629Trp)" "" "" "0000343586" "00024072" "30" "3881" "0" "3881" "0" "c.3881A>G" "r.(?)" "p.(Asn1294Ser)" "" "" "0000344162" "00024072" "50" "1936" "0" "1936" "0" "c.1936G>A" "r.(?)" "p.(Asp646Asn)" "" "" "0000344664" "00024072" "50" "6497" "0" "6497" "0" "c.6497A>G" "r.(?)" "p.(Gln2166Arg)" "" "" "0000346655" "00024072" "90" "7724" "0" "7724" "0" "c.7724T>A" "r.(?)" "p.(Ile2575Asn)" "" "" "0000347406" "00024072" "50" "4009" "0" "4009" "0" "c.4009A>C" "r.(?)" "p.(Lys1337Gln)" "" "" "0000348134" "00024072" "30" "3304" "0" "3304" "0" "c.3304C>T" "r.(?)" "p.(Pro1102Ser)" "" "" "0000350233" "00024072" "50" "3076" "0" "3076" "0" "c.3076G>A" "r.(?)" "p.(Val1026Met)" "" "" "0000350380" "00024072" "50" "6049" "0" "6049" "0" "c.6049G>A" "r.(?)" "p.(Val2017Met)" "" "" "0000350442" "00024072" "30" "8170" "0" "8170" "0" "c.8170G>T" "r.(?)" "p.(Val2724Phe)" "" "" "0000398566" "00024072" "50" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Gly54Asp)" "" "ABD, CH1" "0000405580" "00024072" "90" "8130" "0" "8130" "0" "c.8130G>A" "r.(?)" "p.Trp2710*" "48" "" "0000405581" "00024072" "90" "8130" "0" "8130" "0" "c.8130G>A" "r.(?)" "p.Trp2710*" "48" "" "0000405582" "00024072" "90" "8130" "0" "8130" "0" "c.8130G>A" "r.(?)" "p.Trp2710*" "48" "" "0000437550" "00024072" "90" "2872" "0" "2872" "0" "c.2872del" "r.(?)" "p.(Val958*)" "" "" "0000437557" "00024072" "90" "8129" "0" "8129" "0" "c.8129G>A" "r.(?)" "p.(Trp2710*)" "" "" "0000439066" "00024072" "50" "1131" "0" "1131" "0" "c.1131G>C" "r.(?)" "p.Lys377Asn" "" "" "0000439737" "00024072" "50" "4880" "0" "4880" "0" "c.4880G>A" "r.(?)" "p.Arg1627His" "" "" "0000440079" "00024072" "50" "4705" "0" "4705" "0" "c.4705G>A" "r.(?)" "p.Ala1569Thr" "" "" "0000440092" "00024072" "50" "449" "0" "449" "0" "c.449A>G" "r.(?)" "p.Asp150Gly" "" "" "0000458958" "00024072" "90" "2389" "1" "2389" "1" "c.2389+1G>A" "r.2266_2389del" "p.Val756Alafs*3" "15" "ROD1, Ig-like 6" "0000530636" "00024072" "10" "-26" "0" "-9" "0" "c.-26_-9dup" "r.(?)" "p.(=)" "" "" "0000530637" "00024072" "10" "-12" "0" "-12" "0" "c.-12G>T" "r.(?)" "p.(=)" "" "" "0000530638" "00024072" "50" "61" "0" "61" "0" "c.61A>G" "r.(?)" "p.(Met21Val)" "" "" "0000530639" "00024072" "30" "153" "0" "153" "0" "c.153G>A" "r.(?)" "p.(Lys51=)" "" "" "0000530640" "00024072" "10" "352" "10" "352" "10" "c.352+10G>A" "r.(=)" "p.(=)" "" "" "0000530641" "00024072" "10" "366" "0" "366" "0" "c.366C>T" "r.(?)" "p.(Ile122=)" "" "" "0000530642" "00024072" "10" "369" "0" "369" "0" "c.369G>C" "r.(?)" "p.(Val123=)" "" "" "0000530643" "00024072" "90" "404" "0" "404" "0" "c.404G>A" "r.(?)" "p.(Trp135Ter)" "" "" "0000530644" "00024072" "50" "420" "0" "420" "0" "c.420C>A" "r.(?)" "p.(His140Gln)" "" "" "0000530645" "00024072" "50" "439" "0" "439" "0" "c.439A>G" "r.(?)" "p.(Met147Val)" "" "" "0000530646" "00024072" "50" "449" "0" "449" "0" "c.449A>G" "r.(?)" "p.(Asp150Gly)" "" "" "0000530647" "00024072" "30" "449" "0" "449" "0" "c.449A>G" "r.(?)" "p.(Asp150Gly)" "" "" "0000530648" "00024072" "10" "558" "0" "558" "0" "c.558G>A" "r.(?)" "p.(Gln186=)" "" "" "0000530649" "00024072" "10" "561" "0" "561" "0" "c.561C>T" "r.(?)" "p.(Asp187=)" "" "" "0000530650" "00024072" "10" "561" "0" "561" "0" "c.561C>T" "r.(?)" "p.(Asp187=)" "" "" "0000530652" "00024072" "30" "600" "0" "600" "0" "c.600C>T" "r.(?)" "p.(Pro200=)" "" "" "0000530653" "00024072" "10" "700" "-12" "700" "-12" "c.700-12T>C" "r.(=)" "p.(=)" "" "" "0000530654" "00024072" "30" "700" "-5" "700" "-5" "c.700-5C>T" "r.spl?" "p.?" "" "" "0000530656" "00024072" "50" "743" "0" "743" "0" "c.743A>T" "r.(?)" "p.(His248Leu)" "" "" "0000530657" "00024072" "50" "856" "0" "856" "0" "c.856G>A" "r.(?)" "p.(Glu286Lys)" "" "" "0000530658" "00024072" "90" "970" "-4" "970" "-4" "c.970-4A>G" "r.spl?" "p.?" "" "" "0000530659" "00024072" "50" "970" "-4" "970" "-4" "c.970-4A>G" "r.spl?" "p.?" "" "" "0000530660" "00024072" "50" "1081" "0" "1081" "0" "c.1081C>T" "r.(?)" "p.(Arg361Cys)" "" "" "0000530661" "00024072" "30" "1081" "0" "1081" "0" "c.1081C>T" "r.(?)" "p.(Arg361Cys)" "" "" "0000530662" "00024072" "50" "1132" "0" "1132" "0" "c.1132G>A" "r.(?)" "p.(Val378Met)" "" "" "0000530663" "00024072" "50" "1142" "0" "1142" "0" "c.1142G>A" "r.(?)" "p.(Arg381His)" "" "" "0000530664" "00024072" "50" "1196" "0" "1196" "0" "c.1196A>T" "r.(?)" "p.(Asp399Val)" "" "" "0000530665" "00024072" "30" "1210" "10" "1210" "10" "c.1210+10G>T" "r.(=)" "p.(=)" "" "" "0000530666" "00024072" "50" "1258" "0" "1258" "0" "c.1258C>T" "r.(?)" "p.(Arg420Trp)" "" "" "0000530668" "00024072" "50" "1382" "0" "1382" "0" "c.1382G>A" "r.(?)" "p.(Arg461His)" "" "" "0000530669" "00024072" "30" "1412" "-6" "1412" "-6" "c.1412-6C>G" "r.(=)" "p.(=)" "" "" "0000530670" "00024072" "10" "1425" "0" "1425" "0" "c.1425C>T" "r.(?)" "p.(Asn475=)" "" "" "0000530671" "00024072" "30" "1425" "0" "1425" "0" "c.1425C>T" "r.(?)" "p.(Asn475=)" "" "" "0000530672" "00024072" "30" "1425" "0" "1425" "0" "c.1425C>T" "r.(?)" "p.(Asn475=)" "" "" "0000530673" "00024072" "30" "1434" "0" "1434" "0" "c.1434C>T" "r.(?)" "p.(Arg478=)" "" "" "0000530674" "00024072" "30" "1434" "0" "1434" "0" "c.1434C>T" "r.(?)" "p.(Arg478=)" "" "" "0000530675" "00024072" "90" "1466" "0" "1472" "0" "c.1466_1472del" "r.(?)" "p.(Val489GlyfsTer33)" "" "" "0000530676" "00024072" "10" "1473" "0" "1473" "0" "c.1473G>A" "r.(?)" "p.(Val491=)" "" "" "0000530677" "00024072" "50" "1474" "0" "1474" "0" "c.1474A>G" "r.(?)" "p.(Lys492Glu)" "" "" "0000530678" "00024072" "50" "1474" "0" "1474" "0" "c.1474A>G" "r.(?)" "p.(Lys492Glu)" "" "" "0000530680" "00024072" "50" "1513" "0" "1513" "0" "c.1513G>A" "r.(?)" "p.(Gly505Ser)" "" "" "0000530681" "00024072" "30" "1519" "0" "1519" "0" "c.1519G>A" "r.(?)" "p.(Gly507Arg)" "" "" "0000530682" "00024072" "30" "1519" "0" "1519" "0" "c.1519G>A" "r.(?)" "p.(Gly507Arg)" "" "" "0000530683" "00024072" "30" "1519" "0" "1519" "0" "c.1519G>A" "r.(?)" "p.(Gly507Arg)" "" "" "0000530684" "00024072" "10" "1560" "0" "1560" "0" "c.1560G>A" "r.(?)" "p.(Glu520=)" "" "" "0000530685" "00024072" "10" "1577" "0" "1577" "0" "c.1577G>A" "r.(?)" "p.(Arg526Gln)" "" "" "0000530686" "00024072" "30" "1577" "0" "1577" "0" "c.1577G>A" "r.(?)" "p.(Arg526Gln)" "" "" "0000530687" "00024072" "10" "1577" "0" "1577" "0" "c.1577G>A" "r.(?)" "p.(Arg526Gln)" "" "" "0000530688" "00024072" "50" "1600" "0" "1600" "0" "c.1600G>A" "r.(?)" "p.(Glu534Lys)" "" "" "0000530689" "00024072" "30" "1600" "0" "1600" "0" "c.1600G>A" "r.(?)" "p.(Glu534Lys)" "" "" "0000530690" "00024072" "30" "1600" "0" "1600" "0" "c.1600G>A" "r.(?)" "p.(Glu534Lys)" "" "" "0000530691" "00024072" "30" "1608" "0" "1608" "0" "c.1608G>A" "r.(?)" "p.(Glu536=)" "" "" "0000530692" "00024072" "50" "1645" "0" "1645" "0" "c.1645A>G" "r.(?)" "p.(Ile549Val)" "" "" "0000530693" "00024072" "50" "1645" "0" "1645" "0" "c.1645A>G" "r.(?)" "p.(Ile549Val)" "" "" "0000530694" "00024072" "30" "1698" "0" "1698" "0" "c.1698C>T" "r.(?)" "p.(Ser566=)" "" "" "0000530695" "00024072" "30" "1813" "11" "1813" "11" "c.1813+11G>T" "r.(=)" "p.(=)" "" "" "0000530697" "00024072" "50" "1895" "0" "1895" "0" "c.1895C>A" "r.(?)" "p.(Pro632His)" "" "" "0000530698" "00024072" "10" "1923" "0" "1923" "0" "c.1923C>T" "r.(?)" "p.(His641=)" "" "" "0000530699" "00024072" "30" "1923" "0" "1923" "0" "c.1923C>T" "r.(?)" "p.(His641=)" "" "" "0000530700" "00024072" "50" "1928" "0" "1928" "0" "c.1928T>A" "r.(?)" "p.(Ile643Asn)" "" "" "0000530701" "00024072" "50" "1936" "0" "1936" "0" "c.1936G>A" "r.(?)" "p.(Asp646Asn)" "" "" "0000530702" "00024072" "90" "1948" "0" "1948" "0" "c.1948C>T" "r.(?)" "p.(Arg650Ter)" "" "" "0000530703" "00024072" "70" "1948" "0" "1948" "0" "c.1948C>T" "r.(?)" "p.(Arg650Ter)" "" "" "0000530704" "00024072" "90" "1948" "0" "1948" "0" "c.1948C>T" "r.(?)" "p.(Arg650Ter)" "" "" "0000530705" "00024072" "50" "2065" "0" "2065" "0" "c.2065G>A" "r.(?)" "p.(Glu689Lys)" "" "" "0000530706" "00024072" "50" "2068" "0" "2068" "0" "c.2068T>C" "r.(?)" "p.(Phe690Leu)" "" "" "0000530707" "00024072" "50" "2075" "0" "2075" "0" "c.2075T>C" "r.(?)" "p.(Ile692Thr)" "" "" "0000530708" "00024072" "30" "2078" "0" "2078" "0" "c.2078A>C" "r.(?)" "p.(Asp693Ala)" "" "" "0000530709" "00024072" "30" "2078" "0" "2078" "0" "c.2078A>C" "r.(?)" "p.(Asp693Ala)" "" "" "0000530710" "00024072" "50" "2120" "0" "2120" "0" "c.2120A>G" "r.(?)" "p.(Gln707Arg)" "" "" "0000530711" "00024072" "10" "2125" "0" "2125" "0" "c.2125G>A" "r.(?)" "p.(Ala709Thr)" "" "" "0000530712" "00024072" "50" "2128" "0" "2128" "0" "c.2128G>A" "r.(?)" "p.(Asp710Asn)" "" "" "0000530713" "00024072" "50" "2164" "0" "2164" "0" "c.2164G>A" "r.(?)" "p.(Gly722Ser)" "" "" "0000530714" "00024072" "10" "2180" "0" "2180" "0" "c.2180G>A" "r.(?)" "p.(Arg727His)" "" "" "0000530715" "00024072" "90" "2265" "5" "2265" "5" "c.2265+5G>A" "r.spl?" "p.?" "" "" "0000530716" "00024072" "10" "2265" "19" "2265" "19" "c.2265+19C>T" "r.(=)" "p.(=)" "" "" "0000530717" "00024072" "30" "2266" "-3" "2266" "-3" "c.2266-3C>T" "r.spl?" "p.?" "" "" "0000530718" "00024072" "10" "2292" "0" "2292" "0" "c.2292C>T" "r.(?)" "p.(Pro764=)" "" "" "0000530719" "00024072" "10" "2390" "-14" "2390" "-14" "c.2390-14C>T" "r.(=)" "p.(=)" "" "" "0000530720" "00024072" "50" "2425" "0" "2425" "0" "c.2425G>A" "r.(?)" "p.(Val809Met)" "" "" "0000530721" "00024072" "30" "2490" "0" "2490" "0" "c.2490C>T" "r.(?)" "p.(Thr830=)" "" "" "0000530722" "00024072" "10" "2507" "0" "2507" "0" "c.2507C>A" "r.(?)" "p.(Pro836Gln)" "" "" "0000530723" "00024072" "30" "2507" "0" "2507" "0" "c.2507C>A" "r.(?)" "p.(Pro836Gln)" "" "" "0000530724" "00024072" "50" "2627" "0" "2627" "0" "c.2627G>T" "r.(?)" "p.(Gly876Val)" "" "" "0000530725" "00024072" "50" "2642" "0" "2642" "0" "c.2642G>T" "r.(?)" "p.(Gly881Val)" "" "" "0000530726" "00024072" "10" "2733" "0" "2733" "0" "c.2733G>A" "r.(?)" "p.(Lys911=)" "" "" "0000530728" "00024072" "90" "2838" "0" "2838" "0" "c.2838T>A" "r.(?)" "p.(Tyr946Ter)" "" "" "0000530729" "00024072" "30" "2841" "0" "2841" "0" "c.2841C>T" "r.(?)" "p.(Gly947=)" "" "" "0000530730" "00024072" "30" "2889" "0" "2889" "0" "c.2889G>A" "r.(?)" "p.(Pro963=)" "" "" "0000530731" "00024072" "50" "2930" "-5" "2930" "-5" "c.2930-5C>G" "r.spl?" "p.?" "" "" "0000530732" "00024072" "30" "2937" "0" "2937" "0" "c.2937T>A" "r.(?)" "p.(Ala979=)" "" "" "0000530733" "00024072" "50" "2983" "0" "2983" "0" "c.2983G>A" "r.(?)" "p.(Gly995Ser)" "" "" "0000530734" "00024072" "10" "3006" "0" "3006" "0" "c.3006G>A" "r.(?)" "p.(Arg1002=)" "" "" "0000530735" "00024072" "30" "3006" "0" "3006" "0" "c.3006G>A" "r.(?)" "p.(Arg1002=)" "" "" "0000530736" "00024072" "90" "3180" "0" "3180" "0" "c.3180del" "r.(?)" "p.(Asp1061IlefsTer17)" "" "" "0000530737" "00024072" "50" "3304" "0" "3304" "0" "c.3304C>T" "r.(?)" "p.(Pro1102Ser)" "" "" "0000530738" "00024072" "50" "3382" "0" "3382" "0" "c.3382G>A" "r.(?)" "p.(Glu1128Lys)" "" "" "0000530739" "00024072" "30" "3506" "0" "3506" "0" "c.3506A>G" "r.(?)" "p.(Lys1169Arg)" "" "" "0000530740" "00024072" "10" "3621" "0" "3621" "0" "c.3621C>T" "r.(?)" "p.(Asn1207=)" "" "" "0000530741" "00024072" "10" "3621" "0" "3621" "0" "c.3621C>T" "r.(?)" "p.(Asn1207=)" "" "" "0000530742" "00024072" "10" "3621" "0" "3621" "0" "c.3621C>T" "r.(?)" "p.(Asn1207=)" "" "" "0000530743" "00024072" "10" "3624" "0" "3624" "0" "c.3624G>A" "r.(?)" "p.(Ala1208=)" "" "" "0000530744" "00024072" "50" "3658" "0" "3658" "0" "c.3658T>C" "r.(?)" "p.(Phe1220Leu)" "" "" "0000530745" "00024072" "30" "3721" "0" "3721" "0" "c.3721C>T" "r.(?)" "p.(Arg1241Cys)" "" "" "0000530746" "00024072" "10" "3757" "0" "3757" "0" "c.3757G>A" "r.(?)" "p.(Val1253Ile)" "" "" "0000530747" "00024072" "10" "3765" "0" "3765" "0" "c.3765C>A" "r.(?)" "p.(Val1255=)" "" "" "0000530748" "00024072" "50" "3800" "0" "3800" "0" "c.3800G>A" "r.(?)" "p.(Arg1267Gln)" "" "" "0000530749" "00024072" "10" "3852" "0" "3852" "0" "c.3852C>T" "r.(?)" "p.(Gly1284=)" "" "" "0000530750" "00024072" "50" "3853" "0" "3853" "0" "c.3853G>A" "r.(?)" "p.(Gly1285Ser)" "" "" "0000530751" "00024072" "30" "3938" "0" "3938" "0" "c.3938G>A" "r.(?)" "p.(Arg1313Gln)" "" "" "0000530752" "00024072" "10" "3966" "0" "3966" "0" "c.3966C>T" "r.(?)" "p.(Gly1322=)" "" "" "0000530753" "00024072" "30" "3966" "0" "3966" "0" "c.3966C>T" "r.(?)" "p.(Gly1322=)" "" "" "0000530754" "00024072" "50" "4054" "0" "4054" "0" "c.4054C>T" "r.(?)" "p.(Arg1352Cys)" "" "" "0000530755" "00024072" "30" "4127" "9" "4127" "9" "c.4127+9C>T" "r.(=)" "p.(=)" "" "" "0000530756" "00024072" "30" "4134" "0" "4134" "0" "c.4134G>A" "r.(?)" "p.(Ala1378=)" "" "" "0000530757" "00024072" "10" "4161" "0" "4161" "0" "c.4161C>T" "r.(?)" "p.(Ile1387=)" "" "" "0000530758" "00024072" "50" "4270" "0" "4270" "0" "c.4270G>A" "r.(?)" "p.(Gly1424Arg)" "" "" "0000530759" "00024072" "10" "4289" "-4" "4289" "-4" "c.4289-4A>C" "r.spl?" "p.?" "" "" "0000530760" "00024072" "30" "4301" "0" "4301" "0" "c.4301G>A" "r.(?)" "p.(Arg1434His)" "" "" "0000530761" "00024072" "50" "4413" "0" "4413" "0" "c.4413A>T" "r.(?)" "p.(Gln1471His)" "" "" "0000530762" "00024072" "50" "4418" "0" "4418" "0" "c.4418G>A" "r.(?)" "p.(Gly1473Asp)" "" "" "0000530763" "00024072" "10" "4456" "13" "4456" "13" "c.4456+13C>T" "r.(=)" "p.(=)" "" "" "0000530764" "00024072" "10" "4456" "16" "4456" "16" "c.4456+16G>A" "r.(=)" "p.(=)" "" "" "0000530765" "00024072" "30" "4456" "16" "4456" "16" "c.4456+16G>A" "r.(=)" "p.(=)" "" "" "0000530766" "00024072" "10" "4488" "0" "4488" "0" "c.4488T>C" "r.(?)" "p.(Asn1496=)" "" "" "0000530767" "00024072" "30" "4553" "0" "4553" "0" "c.4553A>G" "r.(?)" "p.(Lys1518Arg)" "" "" "0000530768" "00024072" "30" "4553" "0" "4553" "0" "c.4553A>G" "r.(?)" "p.(Lys1518Arg)" "" "" "0000530769" "00024072" "30" "4577" "0" "4577" "0" "c.4577G>A" "r.(?)" "p.(Arg1526His)" "" "" "0000530770" "00024072" "50" "4583" "0" "4583" "0" "c.4583C>G" "r.(?)" "p.(Pro1528Arg)" "" "" "0000530771" "00024072" "50" "4711" "0" "4711" "0" "c.4711G>A" "r.(?)" "p.(Glu1571Lys)" "" "" "0000530772" "00024072" "50" "4737" "3" "4737" "3" "c.4737+3G>T" "r.spl?" "p.?" "" "" "0000530773" "00024072" "10" "4737" "9" "4737" "10" "c.4737+9_4737+10del" "r.(=)" "p.(=)" "" "" "0000530774" "00024072" "10" "4737" "15" "4737" "15" "c.4737+15A>G" "r.(=)" "p.(=)" "" "" "0000530775" "00024072" "30" "4737" "15" "4737" "15" "c.4737+15A>G" "r.(=)" "p.(=)" "" "" "0000530776" "00024072" "30" "4737" "15" "4737" "15" "c.4737+15A>G" "r.(=)" "p.(=)" "" "" "0000530777" "00024072" "50" "4763" "0" "4763" "0" "c.4763C>G" "r.(?)" "p.(Ala1588Gly)" "" "" "0000530778" "00024072" "50" "4763" "0" "4763" "0" "c.4763C>G" "r.(?)" "p.(Ala1588Gly)" "" "" "0000530779" "00024072" "50" "4826" "0" "4826" "0" "c.4826G>A" "r.(?)" "p.(Arg1609Gln)" "" "" "0000530780" "00024072" "50" "4852" "0" "4852" "0" "c.4852G>A" "r.(?)" "p.(Gly1618Ser)" "" "" "0000530781" "00024072" "10" "4914" "0" "4914" "0" "c.4914G>A" "r.(?)" "p.(Lys1638=)" "" "" "0000530782" "00024072" "50" "4925" "0" "4925" "0" "c.4925C>G" "r.(?)" "p.(Thr1642Arg)" "" "" "0000530783" "00024072" "10" "4947" "0" "4947" "0" "c.4947C>T" "r.(?)" "p.(Gly1649=)" "" "" "0000530784" "00024072" "10" "4947" "0" "4947" "0" "c.4947C>T" "r.(?)" "p.(Gly1649=)" "" "" "0000530785" "00024072" "10" "4951" "19" "4951" "19" "c.4951+19C>T" "r.(=)" "p.(=)" "" "" "0000530786" "00024072" "90" "4969" "0" "4969" "0" "c.4969C>T" "r.(?)" "p.(Arg1657Ter)" "" "" "0000530788" "00024072" "50" "5020" "0" "5020" "0" "c.5020G>A" "r.(?)" "p.(Gly1674Ser)" "" "" "0000530789" "00024072" "30" "5042" "0" "5042" "0" "c.5042C>G" "r.(?)" "p.(Thr1681Arg)" "" "" "0000530790" "00024072" "50" "5071" "0" "5071" "0" "c.5071G>A" "r.(?)" "p.(Asp1691Asn)" "" "" "0000530791" "00024072" "30" "5127" "0" "5127" "0" "c.5127C>T" "r.(?)" "p.(Pro1709=)" "" "" "0000530792" "00024072" "50" "5128" "0" "5128" "0" "c.5128G>A" "r.(?)" "p.(Glu1710Lys)" "" "" "0000530793" "00024072" "30" "5221" "0" "5221" "0" "c.5221G>A" "r.(?)" "p.(Glu1741Lys)" "" "" "0000530794" "00024072" "50" "5306" "0" "5314" "0" "c.5306_5314del" "r.(?)" "p.(Glu1769_Pro1771del)" "" "" "0000530795" "00024072" "30" "5311" "0" "5311" "0" "c.5311C>G" "r.(?)" "p.(Pro1771Ala)" "" "" "0000530796" "00024072" "30" "5311" "0" "5311" "0" "c.5311C>G" "r.(?)" "p.(Pro1771Ala)" "" "" "0000530797" "00024072" "50" "5363" "0" "5363" "0" "c.5363T>G" "r.(?)" "p.(Val1788Gly)" "" "" "0000530798" "00024072" "50" "5375" "0" "5375" "0" "c.5375C>T" "r.(?)" "p.(Ala1792Val)" "" "" "0000530799" "00024072" "30" "5375" "0" "5375" "0" "c.5375C>T" "r.(?)" "p.(Ala1792Val)" "" "" "0000530800" "00024072" "30" "5418" "0" "5418" "0" "c.5418G>A" "r.(?)" "p.(Ser1806=)" "" "" "0000530801" "00024072" "10" "5445" "0" "5445" "0" "c.5445C>T" "r.(?)" "p.(Thr1815=)" "" "" "0000530802" "00024072" "30" "5445" "0" "5445" "0" "c.5445C>T" "r.(?)" "p.(Thr1815=)" "" "" "0000530803" "00024072" "50" "5468" "0" "5468" "0" "c.5468C>T" "r.(?)" "p.(Thr1823Met)" "" "" "0000530804" "00024072" "10" "5578" "0" "5578" "0" "c.5578C>T" "r.(?)" "p.(Arg1860Cys)" "" "" "0000530805" "00024072" "10" "5644" "0" "5644" "0" "c.5644A>G" "r.(?)" "p.(Ile1882Val)" "" "" "0000530806" "00024072" "30" "5644" "0" "5644" "0" "c.5644A>G" "r.(?)" "p.(Ile1882Val)" "" "" "0000530807" "00024072" "30" "5644" "0" "5644" "0" "c.5644A>G" "r.(?)" "p.(Ile1882Val)" "" "" "0000530808" "00024072" "10" "5764" "0" "5764" "0" "c.5764G>A" "r.(?)" "p.(Ala1922Thr)" "" "" "0000530809" "00024072" "10" "5766" "0" "5766" "0" "c.5766G>A" "r.(?)" "p.(Ala1922=)" "" "" "0000530810" "00024072" "30" "5766" "0" "5766" "0" "c.5766G>A" "r.(?)" "p.(Ala1922=)" "" "" "0000530811" "00024072" "50" "5791" "0" "5791" "0" "c.5791C>T" "r.(?)" "p.(Arg1931Cys)" "" "" "0000530812" "00024072" "50" "5797" "0" "5797" "0" "c.5797G>A" "r.(?)" "p.(Asp1933Asn)" "" "" "0000530813" "00024072" "50" "5888" "0" "5888" "0" "c.5888C>T" "r.(?)" "p.(Thr1963Met)" "" "" "0000530814" "00024072" "50" "5903" "0" "5903" "0" "c.5903A>C" "r.(?)" "p.(Lys1968Thr)" "" "" "0000530815" "00024072" "30" "5941" "0" "5941" "0" "c.5941A>G" "r.(?)" "p.(Ile1981Val)" "" "" "0000530816" "00024072" "50" "5945" "0" "5945" "0" "c.5945G>A" "r.(?)" "p.(Arg1982His)" "" "" "0000530817" "00024072" "10" "6004" "11" "6004" "11" "c.6004+11G>A" "r.(=)" "p.(=)" "" "" "0000530818" "00024072" "30" "6004" "11" "6004" "11" "c.6004+11G>A" "r.(=)" "p.(=)" "" "" "0000530819" "00024072" "10" "6004" "19" "6004" "19" "c.6004+19G>A" "r.(=)" "p.(=)" "" "" "0000530820" "00024072" "10" "6005" "-9" "6005" "-9" "c.6005-9T>C" "r.(=)" "p.(=)" "" "" "0000530821" "00024072" "30" "6005" "-9" "6005" "-9" "c.6005-9T>C" "r.(=)" "p.(=)" "" "" "0000530822" "00024072" "50" "6094" "0" "6094" "0" "c.6094C>G" "r.(?)" "p.(Leu2032Val)" "" "" "0000530823" "00024072" "30" "6114" "0" "6114" "0" "c.6114C>T" "r.(?)" "p.(Ile2038=)" "" "" "0000530824" "00024072" "10" "6120" "0" "6120" "0" "c.6120C>T" "r.(?)" "p.(Asp2040=)" "" "" "0000530825" "00024072" "50" "6134" "0" "6134" "0" "c.6134G>A" "r.(?)" "p.(Arg2045Gln)" "" "" "0000530826" "00024072" "30" "6175" "0" "6175" "0" "c.6175G>A" "r.(?)" "p.(Val2059Met)" "" "" "0000530827" "00024072" "30" "6175" "0" "6175" "0" "c.6175G>A" "r.(?)" "p.(Val2059Met)" "" "" "0000530828" "00024072" "30" "6209" "-10" "6209" "-10" "c.6209-10T>G" "r.(=)" "p.(=)" "" "" "0000530829" "00024072" "30" "6282" "0" "6282" "0" "c.6282G>C" "r.(?)" "p.(Gly2094=)" "" "" "0000530830" "00024072" "30" "6309" "0" "6309" "0" "c.6309C>T" "r.(?)" "p.(Thr2103=)" "" "" "0000530831" "00024072" "10" "6361" "11" "6361" "11" "c.6361+11G>T" "r.(=)" "p.(=)" "" "" "0000530832" "00024072" "30" "6387" "0" "6387" "0" "c.6387C>T" "r.(?)" "p.(Thr2129=)" "" "" "0000530833" "00024072" "50" "6451" "0" "6451" "0" "c.6451G>A" "r.(?)" "p.(Gly2151Ser)" "" "" "0000530834" "00024072" "50" "6559" "0" "6559" "0" "c.6559C>T" "r.(?)" "p.(Arg2187Cys)" "" "" "0000530835" "00024072" "50" "6560" "0" "6560" "0" "c.6560G>C" "r.(?)" "p.(Arg2187Pro)" "" "" "0000530836" "00024072" "10" "6642" "0" "6642" "0" "c.6642C>T" "r.(?)" "p.(Gly2214=)" "" "" "0000530838" "00024072" "10" "6714" "0" "6714" "0" "c.6714C>T" "r.(?)" "p.(Thr2238=)" "" "" "0000530839" "00024072" "50" "6716" "0" "6716" "0" "c.6716G>T" "r.(?)" "p.(Arg2239Leu)" "" "" "0000530840" "00024072" "50" "6716" "0" "6716" "0" "c.6716G>T" "r.(?)" "p.(Arg2239Leu)" "" "" "0000530841" "00024072" "30" "6720" "0" "6720" "0" "c.6720G>A" "r.(?)" "p.(Gln2240=)" "" "" "0000530842" "00024072" "30" "6771" "0" "6771" "0" "c.6771A>G" "r.(?)" "p.(Pro2257=)" "" "" "0000530843" "00024072" "50" "6807" "0" "6807" "0" "c.6807C>T" "r.(?)" "p.(Gly2269=)" "" "" "0000530844" "00024072" "30" "6808" "0" "6808" "0" "c.6808G>A" "r.(?)" "p.(Glu2270Lys)" "" "" "0000530846" "00024072" "30" "6825" "0" "6825" "0" "c.6825C>A" "r.(?)" "p.(Ser2275Arg)" "" "" "0000530847" "00024072" "50" "6860" "0" "6860" "0" "c.6860C>A" "r.(?)" "p.(Thr2287Lys)" "" "" "0000530848" "00024072" "90" "6864" "0" "6867" "0" "c.6864_6867dup" "r.(?)" "p.(Val2290ArgfsTer23)" "" "" "0000530849" "00024072" "90" "6864" "0" "6867" "0" "c.6864_6867dup" "r.(?)" "p.(Val2290ArgfsTer23)" "" "" "0000530850" "00024072" "90" "6864" "0" "6867" "0" "c.6864_6867dup" "r.(?)" "p.(Val2290ArgfsTer23)" "" "" "0000530851" "00024072" "10" "6906" "0" "6906" "0" "c.6906T>C" "r.(?)" "p.(Phe2302=)" "" "" "0000530852" "00024072" "30" "6988" "0" "6988" "0" "c.6988G>A" "r.(?)" "p.(Gly2330Ser)" "" "" "0000530853" "00024072" "30" "6988" "0" "6988" "0" "c.6988G>A" "r.(?)" "p.(Gly2330Ser)" "" "" "0000530854" "00024072" "10" "6997" "4" "6997" "4" "c.6997+4A>G" "r.spl?" "p.?" "" "" "0000530855" "00024072" "10" "7029" "0" "7029" "0" "c.7029C>T" "r.(?)" "p.(Gly2343=)" "" "" "0000530856" "00024072" "50" "7067" "0" "7067" "0" "c.7067A>T" "r.(?)" "p.(Lys2356Ile)" "" "" "0000530857" "00024072" "30" "7091" "0" "7091" "0" "c.7091G>A" "r.(?)" "p.(Arg2364His)" "" "" "0000530858" "00024072" "30" "7091" "0" "7091" "0" "c.7091G>A" "r.(?)" "p.(Arg2364His)" "" "" "0000530859" "00024072" "50" "7091" "0" "7091" "0" "c.7091G>C" "r.(?)" "p.(Arg2364Pro)" "" "" "0000530860" "00024072" "50" "7091" "0" "7091" "0" "c.7091G>C" "r.(?)" "p.(Arg2364Pro)" "" "" "0000530861" "00024072" "50" "7108" "0" "7108" "0" "c.7108G>A" "r.(?)" "p.(Gly2370Ser)" "" "" "0000530863" "00024072" "90" "7118" "0" "7119" "0" "c.7118_7119del" "r.(?)" "p.(Tyr2373CysfsTer7)" "" "" "0000530864" "00024072" "30" "7135" "7" "7135" "7" "c.7135+7G>A" "r.(=)" "p.(=)" "" "" "0000530865" "00024072" "30" "7136" "-6" "7136" "-6" "c.7136-6C>A" "r.(=)" "p.(=)" "" "" "0000530866" "00024072" "10" "7284" "0" "7284" "0" "c.7284C>T" "r.(?)" "p.(Ser2428=)" "" "" "0000530867" "00024072" "30" "7289" "0" "7289" "0" "c.7289C>T" "r.(?)" "p.(Ala2430Val)" "" "" "0000530868" "00024072" "50" "7334" "0" "7334" "0" "c.7334A>G" "r.(?)" "p.(His2445Arg)" "" "" "0000530869" "00024072" "50" "7399" "0" "7399" "0" "c.7399C>T" "r.(?)" "p.(Arg2467Cys)" "" "" "0000530870" "00024072" "50" "7399" "0" "7399" "0" "c.7399C>T" "r.(?)" "p.(Arg2467Cys)" "" "" "0000530871" "00024072" "50" "7423" "0" "7423" "0" "c.7423G>A" "r.(?)" "p.(Val2475Ile)" "" "" "0000530872" "00024072" "30" "7449" "0" "7449" "0" "c.7449C>T" "r.(?)" "p.(Asn2483=)" "" "" "0000530873" "00024072" "70" "7450" "0" "7450" "0" "c.7450G>A" "r.(?)" "p.(Gly2484Ser)" "" "" "0000530874" "00024072" "10" "7545" "0" "7545" "0" "c.7545C>T" "r.(?)" "p.(Leu2515=)" "" "" "0000530875" "00024072" "30" "7545" "0" "7545" "0" "c.7545C>T" "r.(?)" "p.(Leu2515=)" "" "" "0000530876" "00024072" "50" "7554" "0" "7554" "0" "c.7554C>T" "r.(?)" "p.(Gly2518=)" "" "" "0000530877" "00024072" "50" "7582" "0" "7582" "0" "c.7582G>A" "r.(?)" "p.(Val2528Met)" "" "" "0000530878" "00024072" "30" "7605" "0" "7605" "0" "c.7605G>A" "r.(?)" "p.(Ser2535=)" "" "" "0000530879" "00024072" "10" "7780" "10" "7780" "10" "c.7780+10A>G" "r.(=)" "p.(=)" "" "" "0000530880" "00024072" "50" "7853" "0" "7853" "0" "c.7853C>T" "r.(?)" "p.(Ser2618Phe)" "" "" "0000530881" "00024072" "50" "7862" "0" "7862" "0" "c.7862G>A" "r.(?)" "p.(Arg2621Gln)" "" "" "0000530882" "00024072" "30" "7862" "0" "7862" "0" "c.7862G>A" "r.(?)" "p.(Arg2621Gln)" "" "" "0000530883" "00024072" "10" "7862" "0" "7862" "0" "c.7862G>A" "r.(?)" "p.(Arg2621Gln)" "" "" "0000530884" "00024072" "10" "7947" "0" "7947" "0" "c.7947C>T" "r.(?)" "p.(Phe2649=)" "" "" "0000530885" "00024072" "30" "7947" "0" "7947" "0" "c.7947C>T" "r.(?)" "p.(Phe2649=)" "" "" "0000530886" "00024072" "30" "7990" "9" "7990" "9" "c.7990+9C>T" "r.(=)" "p.(=)" "" "" "0000530887" "00024072" "30" "7990" "9" "7990" "9" "c.7990+9C>T" "r.(=)" "p.(=)" "" "" "0000530888" "00024072" "30" "7990" "15" "7990" "15" "c.7990+15del" "r.(=)" "p.(=)" "" "" "0000530890" "00024072" "10" "8121" "0" "8121" "0" "c.8121T>C" "r.(?)" "p.(Ile2707=)" "" "" "0000530891" "00024072" "10" "8136" "0" "8136" "0" "c.8136C>T" "r.(?)" "p.(Asp2712=)" "" "" "0000530892" "00024072" "30" "8136" "0" "8136" "0" "c.8136C>T" "r.(?)" "p.(Asp2712=)" "" "" "0000530893" "00024072" "30" "8253" "0" "8254" "0" "c.*75_*76dup" "r.(=)" "p.(=)" "" "" "0000597304" "00024072" "50" "4889" "0" "4889" "0" "c.4889C>T" "r.(?)" "p.(Ala1630Val)" "" "" "0000604183" "00024072" "90" "8129" "0" "8129" "0" "c.8129G>A" "r.(?)" "p.(Trp2710*)" "48" "" "0000610664" "00024072" "30" "31" "0" "31" "0" "c.31G>A" "r.(?)" "p.(Gly11Ser)" "" "" "0000610665" "00024072" "50" "140" "0" "140" "0" "c.140A>G" "r.(?)" "p.(Asn47Ser)" "" "" "0000610666" "00024072" "50" "248" "0" "265" "0" "c.248_265dup" "r.(?)" "p.(Pro88_Arg89insHisArgLysPheHisPro)" "" "" "0000610667" "00024072" "30" "294" "0" "294" "0" "c.294G>A" "r.(?)" "p.(Glu98=)" "" "" "0000610669" "00024072" "50" "328" "0" "328" "0" "c.328G>A" "r.(?)" "p.(Glu110Lys)" "" "" "0000610670" "00024072" "30" "352" "8" "352" "8" "c.352+8C>G" "r.(=)" "p.(=)" "" "" "0000610672" "00024072" "30" "558" "0" "558" "0" "c.558G>A" "r.(?)" "p.(Gln186=)" "" "" "0000610673" "00024072" "30" "558" "0" "558" "0" "c.558G>A" "r.(?)" "p.(Gln186=)" "" "" "0000610674" "00024072" "30" "561" "0" "561" "0" "c.561C>T" "r.(?)" "p.(Asp187=)" "" "" "0000610675" "00024072" "30" "597" "0" "597" "0" "c.597C>T" "r.(?)" "p.(Ala199=)" "" "" "0000610676" "00024072" "10" "600" "0" "600" "0" "c.600C>T" "r.(?)" "p.(Pro200=)" "" "" "0000610677" "00024072" "30" "600" "0" "600" "0" "c.600C>T" "r.(?)" "p.(Pro200=)" "" "" "0000610678" "00024072" "30" "600" "0" "600" "0" "c.600C>T" "r.(?)" "p.(Pro200=)" "" "" "0000610679" "00024072" "30" "602" "-34" "602" "-34" "c.602-34C>T" "r.(=)" "p.(=)" "" "" "0000610680" "00024072" "10" "602" "-11" "602" "-11" "c.602-11C>T" "r.(=)" "p.(=)" "" "" "0000610681" "00024072" "10" "602" "-11" "602" "-11" "c.602-11C>T" "r.(=)" "p.(=)" "" "" "0000610682" "00024072" "30" "700" "-31" "700" "-31" "c.700-31C>T" "r.(=)" "p.(=)" "" "" "0000610683" "00024072" "30" "700" "-30" "700" "-30" "c.700-30G>A" "r.(=)" "p.(=)" "" "" "0000610684" "00024072" "30" "850" "4" "850" "4" "c.850+4T>G" "r.spl?" "p.?" "" "" "0000610685" "00024072" "30" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Thr291Ile)" "" "" "0000610686" "00024072" "50" "925" "0" "925" "0" "c.925G>A" "r.(?)" "p.(Glu309Lys)" "" "" "0000610687" "00024072" "10" "969" "14" "969" "14" "c.969+14G>T" "r.(=)" "p.(=)" "" "" "0000610688" "00024072" "30" "1098" "0" "1098" "0" "c.1098G>C" "r.(?)" "p.(Val366=)" "" "" "0000610689" "00024072" "30" "1347" "0" "1347" "0" "c.1347C>T" "r.(?)" "p.(Thr449=)" "" "" "0000610690" "00024072" "10" "1374" "0" "1374" "0" "c.1374C>T" "r.(?)" "p.(Pro458=)" "" "" "0000610691" "00024072" "30" "1406" "0" "1406" "0" "c.1406C>T" "r.(?)" "p.(Ser469Leu)" "" "" "0000610692" "00024072" "30" "1412" "-8" "1412" "-8" "c.1412-8T>G" "r.(=)" "p.(=)" "" "" "0000610693" "00024072" "50" "1425" "0" "1425" "0" "c.1425C>A" "r.(?)" "p.(Asn475Lys)" "" "" "0000610694" "00024072" "10" "1425" "0" "1425" "0" "c.1425C>T" "r.(?)" "p.(Asn475=)" "" "" "0000610695" "00024072" "50" "1435" "0" "1435" "0" "c.1435G>A" "r.(?)" "p.(Ala479Thr)" "" "" "0000610696" "00024072" "10" "1458" "0" "1458" "0" "c.1458C>A" "r.(?)" "p.(Pro486=)" "" "" "0000610697" "00024072" "30" "1470" "0" "1470" "0" "c.1470C>A" "r.(?)" "p.(Arg490=)" "" "" "0000610698" "00024072" "30" "1471" "0" "1471" "0" "c.1471G>A" "r.(?)" "p.(Val491Met)" "" "" "0000610699" "00024072" "30" "1474" "0" "1474" "0" "c.1474A>G" "r.(?)" "p.(Lys492Glu)" "" "" "0000610700" "00024072" "30" "1519" "0" "1519" "0" "c.1519G>A" "r.(?)" "p.(Gly507Arg)" "" "" "0000610701" "00024072" "30" "1549" "18" "1549" "18" "c.1549+18G>C" "r.(=)" "p.(=)" "" "" "0000610702" "00024072" "10" "1577" "0" "1577" "0" "c.1577G>A" "r.(?)" "p.(Arg526Gln)" "" "" "0000610703" "00024072" "30" "1608" "0" "1608" "0" "c.1608G>A" "r.(?)" "p.(Glu536=)" "" "" "0000610705" "00024072" "50" "1649" "0" "1649" "0" "c.1649C>T" "r.(?)" "p.(Thr550Met)" "" "" "0000610706" "00024072" "30" "1656" "0" "1656" "0" "c.1656C>T" "r.(?)" "p.(Gly552=)" "" "" "0000610707" "00024072" "30" "1673" "0" "1673" "0" "c.1673G>A" "r.(?)" "p.(Arg558His)" "" "" "0000610708" "00024072" "10" "1676" "66" "1677" "-63" "c.1676+66_1677-63del" "r.?" "p.?" "" "" "0000610709" "00024072" "30" "1676" "78" "1677" "-49" "c.1676+78_1677-49del" "r.?" "p.?" "" "" "0000610710" "00024072" "90" "1813" "2" "1813" "2" "c.1813+2T>C" "r.spl?" "p.?" "" "" "0000610711" "00024072" "10" "1813" "11" "1813" "11" "c.1813+11G>T" "r.(=)" "p.(=)" "" "" "0000610712" "00024072" "30" "1813" "11" "1813" "11" "c.1813+11G>T" "r.(=)" "p.(=)" "" "" "0000610713" "00024072" "10" "1813" "36" "1813" "36" "c.1813+36G>A" "r.(=)" "p.(=)" "" "" "0000610714" "00024072" "10" "1814" "-28" "1814" "-28" "c.1814-28T>C" "r.(=)" "p.(=)" "" "" "0000610715" "00024072" "10" "1833" "0" "1833" "0" "c.1833C>T" "r.(?)" "p.(Pro611=)" "" "" "0000610716" "00024072" "50" "1840" "0" "1840" "0" "c.1840G>A" "r.(?)" "p.(Ala614Thr)" "" "" "0000610718" "00024072" "90" "1948" "0" "1948" "0" "c.1948C>T" "r.(?)" "p.(Arg650Ter)" "" "" "0000610719" "00024072" "30" "2040" "0" "2040" "0" "c.2040C>T" "r.(?)" "p.(Thr680=)" "" "" "0000610720" "00024072" "50" "2063" "0" "2063" "0" "c.2063C>T" "r.(?)" "p.(Ala688Val)" "" "" "0000610721" "00024072" "50" "2065" "0" "2065" "0" "c.2065G>A" "r.(?)" "p.(Glu689Lys)" "" "" "0000610722" "00024072" "30" "2078" "0" "2078" "0" "c.2078A>C" "r.(?)" "p.(Asp693Ala)" "" "" "0000610723" "00024072" "30" "2122" "-27" "2122" "-27" "c.2122-27T>C" "r.(=)" "p.(=)" "" "" "0000610724" "00024072" "30" "2124" "0" "2124" "0" "c.2124C>T" "r.(?)" "p.(Asp708=)" "" "" "0000610725" "00024072" "50" "2128" "0" "2128" "0" "c.2128G>A" "r.(?)" "p.(Asp710Asn)" "" "" "0000610726" "00024072" "30" "2266" "-14" "2266" "-14" "c.2266-14G>C" "r.(=)" "p.(=)" "" "" "0000610727" "00024072" "10" "2382" "0" "2382" "0" "c.2382G>A" "r.(?)" "p.(Ala794=)" "" "" "0000610728" "00024072" "10" "2389" "12" "2389" "12" "c.2389+12C>T" "r.(=)" "p.(=)" "" "" "0000610729" "00024072" "30" "2389" "12" "2389" "12" "c.2389+12C>T" "r.(=)" "p.(=)" "" "" "0000610730" "00024072" "10" "2390" "-14" "2390" "-14" "c.2390-14C>T" "r.(=)" "p.(=)" "" "" "0000610731" "00024072" "30" "2390" "-9" "2390" "-9" "c.2390-9T>C" "r.(=)" "p.(=)" "" "" "0000610732" "00024072" "30" "2457" "0" "2457" "0" "c.2457C>T" "r.(?)" "p.(Phe819=)" "" "" "0000610733" "00024072" "30" "2490" "0" "2490" "0" "c.2490C>T" "r.(?)" "p.(Thr830=)" "" "" "0000610734" "00024072" "50" "2491" "0" "2491" "0" "c.2491G>A" "r.(?)" "p.(Val831Ile)" "" "" "0000610735" "00024072" "10" "2501" "0" "2501" "0" "c.2501C>T" "r.(?)" "p.(Thr834Met)" "" "" "0000610736" "00024072" "50" "2507" "0" "2507" "0" "c.2507C>A" "r.(?)" "p.(Pro836Gln)" "" "" "0000610737" "00024072" "50" "2627" "0" "2627" "0" "c.2627G>T" "r.(?)" "p.(Gly876Val)" "" "" "0000610738" "00024072" "30" "2723" "0" "2723" "0" "c.2723G>C" "r.(?)" "p.(Gly908Ala)" "" "" "0000610740" "00024072" "10" "3000" "0" "3000" "0" "c.3000T>C" "r.(?)" "p.(Asp1000=)" "" "" "0000610741" "00024072" "30" "3005" "0" "3005" "0" "c.3005G>A" "r.(?)" "p.(Arg1002Gln)" "" "" "0000610742" "00024072" "30" "3153" "0" "3153" "0" "c.3153G>A" "r.(?)" "p.(Pro1051=)" "" "" "0000610743" "00024072" "70" "3180" "0" "3180" "0" "c.3180del" "r.(?)" "p.(Asp1061IlefsTer17)" "" "" "0000610744" "00024072" "30" "3193" "-5" "3193" "-5" "c.3193-5C>T" "r.spl?" "p.?" "" "" "0000610745" "00024072" "30" "3294" "0" "3294" "0" "c.3294C>T" "r.(?)" "p.(Thr1098=)" "" "" "0000610746" "00024072" "30" "3372" "0" "3372" "0" "c.3372G>A" "r.(?)" "p.(Thr1124=)" "" "" "0000610747" "00024072" "30" "3449" "0" "3449" "0" "c.3449G>A" "r.(?)" "p.(Arg1150Gln)" "" "" "0000610749" "00024072" "30" "3866" "0" "3866" "0" "c.3866C>T" "r.(?)" "p.(Thr1289Met)" "" "" "0000610750" "00024072" "90" "3964" "1" "3964" "1" "c.3964+1G>A" "r.spl?" "p.?" "" "" "0000610751" "00024072" "10" "3966" "0" "3966" "0" "c.3966C>T" "r.(?)" "p.(Gly1322=)" "" "" "0000610752" "00024072" "30" "3987" "0" "3987" "0" "c.3987G>C" "r.(?)" "p.(Leu1329=)" "" "" "0000610753" "00024072" "50" "4054" "0" "4054" "0" "c.4054C>T" "r.(?)" "p.(Arg1352Cys)" "" "" "0000610754" "00024072" "30" "4134" "0" "4134" "0" "c.4134G>A" "r.(?)" "p.(Ala1378=)" "" "" "0000610755" "00024072" "30" "4173" "0" "4173" "0" "c.4173G>A" "r.(?)" "p.(Ser1391=)" "" "" "0000610756" "00024072" "30" "4219" "0" "4219" "0" "c.4219G>A" "r.(?)" "p.(Val1407Met)" "" "" "0000610758" "00024072" "50" "4301" "0" "4301" "0" "c.4301G>T" "r.(?)" "p.(Arg1434Leu)" "" "" "0000610759" "00024072" "30" "4581" "-5" "4581" "-5" "c.4581-5T>A" "r.spl?" "p.?" "" "" "0000610760" "00024072" "30" "4627" "0" "4627" "0" "c.4627C>T" "r.(?)" "p.(Arg1543Trp)" "" "" "0000610762" "00024072" "10" "4700" "0" "4700" "0" "c.4700G>A" "r.(?)" "p.(Arg1567Gln)" "" "" "0000610764" "00024072" "10" "4737" "9" "4737" "10" "c.4737+9_4737+10del" "r.(=)" "p.(=)" "" "" "0000610765" "00024072" "30" "4737" "18" "4737" "18" "c.4737+18C>T" "r.(=)" "p.(=)" "" "" "0000610766" "00024072" "10" "4737" "29" "4737" "29" "c.4737+29G>A" "r.(=)" "p.(=)" "" "" "0000610767" "00024072" "50" "4790" "0" "4790" "0" "c.4790C>T" "r.(?)" "p.(Thr1597Met)" "" "" "0000610768" "00024072" "30" "4803" "0" "4803" "0" "c.4803C>G" "r.(?)" "p.(Ser1601=)" "" "" "0000610769" "00024072" "10" "4812" "0" "4812" "0" "c.4812G>A" "r.(?)" "p.(Pro1604=)" "" "" "0000610770" "00024072" "30" "4812" "0" "4812" "0" "c.4812G>A" "r.(?)" "p.(Pro1604=)" "" "" "0000610771" "00024072" "50" "4925" "0" "4925" "0" "c.4925C>G" "r.(?)" "p.(Thr1642Arg)" "" "" "0000610772" "00024072" "30" "4928" "-7" "4928" "-7" "c.4928-7T>C" "r.(=)" "p.(=)" "" "" "0000610773" "00024072" "10" "4947" "0" "4947" "0" "c.4947C>T" "r.(?)" "p.(Gly1649=)" "" "" "0000610774" "00024072" "30" "4952" "-7" "4952" "-7" "c.4952-7A>G" "r.(=)" "p.(=)" "" "" "0000610775" "00024072" "30" "4991" "0" "4991" "0" "c.4991C>T" "r.(?)" "p.(Thr1664Met)" "" "" "0000610776" "00024072" "50" "5020" "0" "5020" "0" "c.5020G>A" "r.(?)" "p.(Gly1674Ser)" "" "" "0000610777" "00024072" "50" "5036" "0" "5036" "0" "c.5036C>A" "r.(?)" "p.(Thr1679Lys)" "" "" "0000610778" "00024072" "10" "5042" "0" "5042" "0" "c.5042C>G" "r.(?)" "p.(Thr1681Arg)" "" "" "0000610779" "00024072" "10" "5070" "0" "5070" "0" "c.5070C>T" "r.(?)" "p.(Leu1690=)" "" "" "0000610780" "00024072" "30" "5127" "0" "5127" "0" "c.5127C>T" "r.(?)" "p.(Pro1709=)" "" "" "0000610781" "00024072" "30" "5133" "0" "5133" "0" "c.5133G>A" "r.(?)" "p.(Pro1711=)" "" "" "0000610782" "00024072" "50" "5156" "0" "5156" "0" "c.5156G>A" "r.(?)" "p.(Arg1719His)" "" "" "0000610783" "00024072" "30" "5160" "0" "5160" "0" "c.5160C>T" "r.(?)" "p.(Phe1720=)" "" "" "0000610784" "00024072" "50" "5179" "0" "5179" "0" "c.5179A>G" "r.(?)" "p.(Asn1727Asp)" "" "" "0000610785" "00024072" "50" "5201" "0" "5201" "0" "c.5201C>T" "r.(?)" "p.(Ala1734Val)" "" "" "0000610786" "00024072" "30" "5282" "0" "5282" "0" "c.5282C>T" "r.(?)" "p.(Ala1761Val)" "" "" "0000610787" "00024072" "50" "5306" "0" "5314" "0" "c.5306_5314del" "r.(?)" "p.(Glu1769_Pro1771del)" "" "" "0000610789" "00024072" "30" "5374" "0" "5374" "0" "c.5374G>A" "r.(?)" "p.(Ala1792Thr)" "" "" "0000610790" "00024072" "70" "5398" "1" "5398" "1" "c.5398+1G>A" "r.spl?" "p.?" "" "" "0000610791" "00024072" "30" "5399" "-13" "5399" "-13" "c.5399-13G>T" "r.(=)" "p.(=)" "" "" "0000610792" "00024072" "30" "5418" "0" "5418" "0" "c.5418G>A" "r.(?)" "p.(Ser1806=)" "" "" "0000610793" "00024072" "50" "5500" "0" "5500" "0" "c.5500C>T" "r.(?)" "p.(His1834Tyr)" "" "" "0000610794" "00024072" "10" "5578" "0" "5578" "0" "c.5578C>T" "r.(?)" "p.(Arg1860Cys)" "" "" "0000610795" "00024072" "30" "5579" "0" "5579" "0" "c.5579G>T" "r.(?)" "p.(Arg1860Leu)" "" "" "0000610796" "00024072" "30" "5644" "0" "5644" "0" "c.5644A>G" "r.(?)" "p.(Ile1882Val)" "" "" "0000610797" "00024072" "10" "5669" "-12" "5669" "-12" "c.5669-12C>T" "r.(=)" "p.(=)" "" "" "0000610798" "00024072" "10" "5766" "0" "5766" "0" "c.5766G>A" "r.(?)" "p.(Ala1922=)" "" "" "0000610799" "00024072" "30" "5787" "0" "5787" "0" "c.5787C>T" "r.(?)" "p.(Ile1929=)" "" "" "0000610800" "00024072" "50" "5888" "0" "5888" "0" "c.5888C>T" "r.(?)" "p.(Thr1963Met)" "" "" "0000610801" "00024072" "50" "5906" "0" "5906" "0" "c.5906T>C" "r.(?)" "p.(Ile1969Thr)" "" "" "0000610802" "00024072" "50" "5944" "0" "5944" "0" "c.5944C>T" "r.(?)" "p.(Arg1982Cys)" "" "" "0000610803" "00024072" "30" "5954" "0" "5954" "0" "c.5954C>T" "r.(?)" "p.(Ser1985Leu)" "" "" "0000610804" "00024072" "30" "5961" "0" "5961" "0" "c.5961C>T" "r.(?)" "p.(Asn1987=)" "" "" "0000610805" "00024072" "50" "6008" "0" "6008" "0" "c.6008T>C" "r.(?)" "p.(Ile2003Thr)" "" "" "0000610806" "00024072" "50" "6016" "0" "6018" "0" "c.6016_6018del" "r.(?)" "p.(Thr2006del)" "" "" "0000610807" "00024072" "30" "6094" "0" "6094" "0" "c.6094C>G" "r.(?)" "p.(Leu2032Val)" "" "" "0000610808" "00024072" "30" "6175" "0" "6175" "0" "c.6175G>A" "r.(?)" "p.(Val2059Met)" "" "" "0000610809" "00024072" "50" "6205" "0" "6205" "0" "c.6205G>A" "r.(?)" "p.(Ala2069Thr)" "" "" "0000610810" "00024072" "10" "6309" "0" "6309" "0" "c.6309C>T" "r.(?)" "p.(Thr2103=)" "" "" "0000610811" "00024072" "30" "6387" "0" "6387" "0" "c.6387C>T" "r.(?)" "p.(Thr2129=)" "" "" "0000610813" "00024072" "70" "6398" "0" "6398" "0" "c.6398G>A" "r.(?)" "p.(Arg2133His)" "" "" "0000610814" "00024072" "10" "6459" "0" "6459" "0" "c.6459C>T" "r.(?)" "p.(Thr2153=)" "" "" "0000610815" "00024072" "50" "6538" "0" "6538" "0" "c.6538C>T" "r.(?)" "p.(Arg2180Cys)" "" "" "0000610816" "00024072" "30" "6594" "0" "6594" "0" "c.6594C>T" "r.(?)" "p.(Gly2198=)" "" "" "0000610817" "00024072" "50" "6617" "0" "6617" "0" "c.6617G>A" "r.(?)" "p.(Arg2206Gln)" "" "" "0000610818" "00024072" "30" "6689" "0" "6689" "0" "c.6689G>A" "r.(?)" "p.(Arg2230His)" "" "" "0000610819" "00024072" "30" "6703" "0" "6703" "0" "c.6703G>A" "r.(?)" "p.(Gly2235Ser)" "" "" "0000610820" "00024072" "10" "6771" "0" "6771" "0" "c.6771A>G" "r.(?)" "p.(Pro2257=)" "" "" "0000610821" "00024072" "50" "6790" "0" "6790" "0" "c.6790G>A" "r.(?)" "p.(Ala2264Thr)" "" "" "0000610822" "00024072" "30" "6817" "0" "6817" "0" "c.6817G>A" "r.(?)" "p.(Ala2273Thr)" "" "" "0000610823" "00024072" "50" "6824" "0" "6824" "0" "c.6824G>T" "r.(?)" "p.(Ser2275Ile)" "" "" "0000610824" "00024072" "30" "6864" "0" "6864" "0" "c.6864C>T" "r.(?)" "p.(Val2288=)" "" "" "0000610825" "00024072" "90" "6864" "0" "6867" "0" "c.6864_6867dup" "r.(?)" "p.(Val2290ArgfsTer23)" "" "" "0000610826" "00024072" "10" "6888" "0" "6888" "0" "c.6888C>T" "r.(?)" "p.(His2296=)" "" "" "0000610827" "00024072" "30" "6888" "0" "6888" "0" "c.6888C>T" "r.(?)" "p.(His2296=)" "" "" "0000610828" "00024072" "50" "6895" "0" "6895" "0" "c.6895G>A" "r.(?)" "p.(Gly2299Ser)" "" "" "0000610830" "00024072" "30" "6998" "-5" "6998" "-5" "c.6998-5C>T" "r.spl?" "p.?" "" "" "0000610831" "00024072" "50" "7030" "0" "7030" "0" "c.7030G>A" "r.(?)" "p.(Ala2344Thr)" "" "" "0000610832" "00024072" "30" "7078" "0" "7078" "0" "c.7078G>A" "r.(?)" "p.(Ala2360Thr)" "" "" "0000610833" "00024072" "30" "7136" "-4" "7136" "-4" "c.7136-4C>T" "r.spl?" "p.?" "" "" "0000610834" "00024072" "50" "7141" "0" "7141" "0" "c.7141T>G" "r.(?)" "p.(Tyr2381Asp)" "" "" "0000610836" "00024072" "10" "7185" "0" "7185" "0" "c.7185C>T" "r.(?)" "p.(Ser2395=)" "" "" "0000610837" "00024072" "50" "7289" "0" "7289" "0" "c.7289C>T" "r.(?)" "p.(Ala2430Val)" "" "" "0000610839" "00024072" "70" "7365" "0" "7365" "0" "c.7365C>A" "r.(?)" "p.(Tyr2455Ter)" "" "" "0000610840" "00024072" "30" "7380" "0" "7380" "0" "c.7380C>G" "r.(?)" "p.(Asp2460Glu)" "" "" "0000610841" "00024072" "10" "7609" "0" "7609" "0" "c.7609G>A" "r.(?)" "p.(Ala2537Thr)" "" "" "0000610842" "00024072" "50" "7627" "0" "7627" "0" "c.7627G>C" "r.(?)" "p.(Asp2543His)" "" "" "0000610843" "00024072" "50" "7652" "0" "7652" "0" "c.7652A>G" "r.(?)" "p.(Asp2551Gly)" "" "" "0000610844" "00024072" "10" "7781" "-40" "7781" "-40" "c.7781-40C>G" "r.(=)" "p.(=)" "" "" "0000610845" "00024072" "50" "7807" "0" "7807" "0" "c.7807C>T" "r.(?)" "p.(Leu2603Phe)" "" "" "0000610846" "00024072" "30" "7909" "0" "7909" "0" "c.7909A>C" "r.(?)" "p.(Lys2637Gln)" "" "" "0000610847" "00024072" "10" "7947" "0" "7947" "0" "c.7947C>T" "r.(?)" "p.(Phe2649=)" "" "" "0000610848" "00024072" "10" "7990" "9" "7990" "9" "c.7990+9C>T" "r.(=)" "p.(=)" "" "" "0000610849" "00024072" "30" "7990" "10" "7990" "10" "c.7990+10G>A" "r.(=)" "p.(=)" "" "" "0000610850" "00024072" "30" "7991" "-19" "7991" "-19" "c.7991-19C>T" "r.(=)" "p.(=)" "" "" "0000610851" "00024072" "10" "8118" "0" "8118" "0" "c.8118C>T" "r.(?)" "p.(Leu2706=)" "" "" "0000610852" "00024072" "10" "8121" "0" "8121" "0" "c.8121T>C" "r.(?)" "p.(Ile2707=)" "" "" "0000610853" "00024072" "10" "8179" "0" "8179" "0" "c.*1A>G" "r.(=)" "p.(=)" "" "" "0000621817" "00024072" "10" "294" "0" "294" "0" "c.294G>A" "r.(?)" "p.(Glu98=)" "" "" "0000621818" "00024072" "50" "1528" "0" "1528" "0" "c.1528A>C" "r.(?)" "p.(Lys510Gln)" "" "" "0000621819" "00024072" "50" "1568" "0" "1568" "0" "c.1568T>C" "r.(?)" "p.(Val523Ala)" "" "" "0000621820" "00024072" "50" "2041" "0" "2041" "0" "c.2041G>A" "r.(?)" "p.(Gly681Ser)" "" "" "0000621821" "00024072" "30" "2292" "0" "2292" "0" "c.2292C>T" "r.(?)" "p.(Pro764=)" "" "" "0000621822" "00024072" "30" "2390" "-12" "2390" "-12" "c.2390-12G>A" "r.(=)" "p.(=)" "" "" "0000621823" "00024072" "50" "2662" "0" "2662" "0" "c.2662A>G" "r.(?)" "p.(Thr888Ala)" "" "" "0000621824" "00024072" "50" "2731" "0" "2731" "0" "c.2731A>G" "r.(?)" "p.(Lys911Glu)" "" "" "0000621825" "00024072" "50" "2900" "0" "2900" "0" "c.2900G>C" "r.(?)" "p.(Ser967Thr)" "" "" "0000621826" "00024072" "30" "3372" "0" "3372" "0" "c.3372G>A" "r.(?)" "p.(Thr1124=)" "" "" "0000621827" "00024072" "50" "3745" "0" "3745" "0" "c.3745G>A" "r.(?)" "p.(Asp1249Asn)" "" "" "0000621828" "00024072" "30" "3791" "-8" "3791" "-8" "c.3791-8G>A" "r.(=)" "p.(=)" "" "" "0000621829" "00024072" "30" "3966" "0" "3966" "0" "c.3966C>T" "r.(?)" "p.(Gly1322=)" "" "" "0000621830" "00024072" "50" "5311" "0" "5311" "0" "c.5311C>G" "r.(?)" "p.(Pro1771Ala)" "" "" "0000621831" "00024072" "30" "5418" "0" "5418" "0" "c.5418G>A" "r.(?)" "p.(Ser1806=)" "" "" "0000621832" "00024072" "50" "6716" "0" "6716" "0" "c.6716G>A" "r.(?)" "p.(Arg2239Gln)" "" "" "0000629463" "00024072" "90" "7409" "0" "7409" "0" "c.7409C>A" "r.(?)" "p.(Pro2470His)" "" "ROD2, Ig-like 22" "0000643211" "00024072" "70" "115" "0" "115" "0" "c.115C>T" "r.(?)" "p.(Gln39*)" "1" "ABD, CH1" "0000643212" "00024072" "70" "19" "0" "19" "0" "c.19del" "r.(?)" "p.(Tyr7Thrfs*51)" "1" "ABD, CH1" "0000643213" "00024072" "70" "230" "0" "234" "0" "c.230_234del" "r.(?)" "p.(Leu77Profs*73)" "1" "ABD, CH1" "0000643214" "00024072" "70" "241" "0" "241" "0" "c.241del" "r.(?)" "p.(Arg81Alafs*15)" "1" "ABD, CH1" "0000643215" "00024072" "50" "248" "0" "265" "0" "c.248_265dup" "r.(?)" "p.(Pro88_Arg89insHisArgLysPheHisPro)" "1" "ABD, CH1" "0000643216" "00024072" "70" "249" "0" "249" "0" "c.249C>G" "r.(?)" "p.(Tyr83*)" "1" "ABD, CH1" "0000643217" "00024072" "70" "318" "0" "318" "0" "c.318C>G" "r.(?)" "p.(Phe106Leu)" "1" "ABD, CH1" "0000643218" "00024072" "70" "322" "0" "322" "0" "c.322G>T" "r.(?)" "p.(Glu108*)" "1" "ABD, CH1" "0000643219" "00024072" "50" "328" "0" "328" "0" "c.328G>A" "r.(?)" "p.(Glu110Lys)" "1" "ABD, CH1" "0000643220" "00024072" "70" "102" "0" "102" "0" "c.102G>A" "r.(?)" "p.(Trp34*)" "1" "ABD, CH1" "0000643221" "00024072" "70" "367" "0" "367" "0" "c.367G>A" "r.(?)" "p.(Val123Met)" "2" "ABD, CH1" "0000643222" "00024072" "70" "368" "0" "368" "0" "c.368T>C" "r.(?)" "p.(Val123Ala)" "2" "ABD, CH1" "0000643223" "00024072" "70" "404" "0" "404" "0" "c.404G>A" "r.(?)" "p.(Trp135*)" "2" "ABD, CH1" "0000643224" "00024072" "70" "581" "0" "599" "0" "c.581_599del" "r.(?)" "p.(Leu194Profs*52)" "2" "ABD, CH2" "0000643225" "00024072" "70" "601" "1" "601" "1" "c.601+1G>T" "r.spl" "p.?" "2" "ABD, CH2" "0000643226" "00024072" "50" "449" "0" "449" "0" "c.449A>G" "r.(?)" "p.(Asp150Gly)" "2" "ABD, CH1" "0000643227" "00024072" "70" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Ala193Thr)" "2" "ABD, CH2" "0000643228" "00024072" "70" "602" "-716" "1010" "0" "c.602-716_1010delins353-1376_353-1339" "r.spl" "p.Gly201Valfs*36" "3" "ABD, CH2" "0000643229" "00024072" "70" "697" "0" "697" "0" "c.697C>T" "r.(?)" "p.(Gln233*)" "3" "ABD, CH2" "0000643230" "00024072" "70" "664" "0" "664" "0" "c.664A>G" "r.(?)" "p.(Met222Val)" "3" "ABD, CH2" "0000643231" "00024072" "70" "711" "0" "711" "0" "c.711del" "r.(?)" "p.(Glu238Argfs*14)" "4" "ABD, CH2" "0000643232" "00024072" "50" "743" "0" "743" "0" "c.743A>T" "r.(?)" "p.(His248Leu)" "4" "ABD, CH2" "0000643233" "00024072" "70" "805" "0" "805" "0" "c.805C>T" "r.(?)" "p.(Arg269*)" "4" "ROD1, Ig-like 1" "0000643234" "00024072" "50" "850" "4" "850" "4" "c.850+4T>G" "r.spl?" "p.?" "4" "ROD1, Ig-like 1" "0000643235" "00024072" "70" "752" "0" "752" "0" "c.752T>C" "r.(?)" "p.(Met251Thr)" "4" "ABD, CH2" "0000643236" "00024072" "50" "870" "0" "870" "0" "c.870C>A" "r.(?)" "p.(Asn290Lys)" "5" "ROD1, Ig-like 1" "0000643237" "00024072" "50" "925" "0" "925" "0" "c.925G>A" "r.(?)" "p.(Glu309Lys)" "5" "ROD1, Ig-like 1" "0000643238" "00024072" "50" "969" "3" "969" "3" "c.969+3A>G" "r.spl?" "p.?" "5" "ROD1, Ig-like 1" "0000643239" "00024072" "50" "970" "-4" "970" "-4" "c.970-4A>G" "r.spl?" "p.?" "6" "ROD1, Ig-like 1" "0000643240" "00024072" "50" "986" "0" "986" "0" "c.986A>G" "r.(?)" "p.(Asn329Ser)" "6" "ROD1, Ig-like 1" "0000643241" "00024072" "50" "1076" "0" "1076" "0" "c.1076T>C" "r.(?)" "p.(Ile359Thr)" "7" "ROD1, Ig-like 1" "0000643242" "00024072" "50" "1132" "0" "1132" "0" "c.1132G>T" "r.(?)" "p.(Val378Leu)" "7" "ROD1, Ig-like 2" "0000643243" "00024072" "50" "1211" "-5" "1211" "-5" "c.1211-5G>A" "r.spl?" "p.?" "8" "ROD1, Ig-like 2" "0000643244" "00024072" "70" "1412" "-1" "1412" "-1" "c.1412-1G>A" "r.spl" "p.?" "9" "ROD1, Ig-like 3" "0000643245" "00024072" "50" "1425" "0" "1425" "0" "c.1425C>A" "r.(?)" "p.(Asn475Lys)" "9" "ROD1, Ig-like 3" "0000643246" "00024072" "70" "1444" "0" "1444" "0" "c.1444C>T" "r.(?)" "p.(Arg482*)" "9" "ROD1, Ig-like 3" "0000643247" "00024072" "70" "1466" "0" "1472" "0" "c.1466_1472del" "r.(?)" "p.(Val489Glyfs*33)" "9" "ROD1, Ig-like 3" "0000643248" "00024072" "70" "1466" "0" "1473" "0" "c.1466_1473delinsA" "r.(?)" "p.(Val489Glufs*33)" "9" "ROD1, Ig-like 3" "0000643249" "00024072" "50" "1577" "0" "1577" "0" "c.1577G>A" "r.(?)" "p.(Arg526Gln)" "10" "ROD1, Ig-like 3" "0000643250" "00024072" "70" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Gln572*)" "11" "ROD1, Ig-like 4" "0000643251" "00024072" "50" "1723" "0" "1723" "0" "c.1723C>T" "r.(?)" "p.(Arg575Trp)" "11" "ROD1, Ig-like 4" "0000643252" "00024072" "50" "1882" "0" "1882" "0" "c.1882G>A" "r.(?)" "p.(Val628Met)" "12" "ROD1, Ig-like 4" "0000643253" "00024072" "70" "1890" "0" "1890" "0" "c.1890C>A" "r.(?)" "p.(Tyr630*)" "12" "ROD1, Ig-like 4" "0000643254" "00024072" "70" "1948" "0" "1948" "0" "c.1948C>T" "r.(?)" "p.(Arg650*)" "12" "ROD1, Ig-like 4" "0000643255" "00024072" "50" "1936" "0" "1936" "0" "c.1936G>A" "r.(?)" "p.(Asp646Asn)" "12" "ROD1, Ig-like 4" "0000643256" "00024072" "70" "1942" "0" "1942" "0" "c.1942G>T" "r.spl" "p.(Asp648Tyr)" "12" "ROD1, Ig-like 4" "0000643257" "00024072" "70" "2041" "0" "2047" "0" "c.2041_2047dup" "r.(?)" "p.(Ile683Argfs*9)" "13" "ROD1, Ig-like 5" "0000643258" "00024072" "50" "2050" "0" "2050" "0" "c.2050G>C" "r.(?)" "p.(Val684Leu)" "13" "ROD1, Ig-like 5" "0000643259" "00024072" "50" "2084" "0" "2084" "0" "c.2084G>A" "r.(?)" "p.(Arg695His)" "13" "ROD1, Ig-like 5" "0000643260" "00024072" "70" "2119" "0" "2119" "0" "c.2119C>T" "r.(?)" "p.(Gln707*)" "13" "ROD1, Ig-like 5" "0000643261" "00024072" "50" "2078" "0" "2078" "0" "c.2078A>C" "r.(?)" "p.(Asp693Ala)" "13" "ROD1, Ig-like 5" "0000643262" "00024072" "50" "2170" "0" "2170" "0" "c.2170G>A" "r.(?)" "p.(Gly724Ser)" "14" "ROD1, Ig-like 5" "0000643263" "00024072" "70" "2208" "0" "2208" "0" "c.2208del" "r.(?)" "p.(Lys737Serfs*11)" "14" "ROD1, Ig-like 5" "0000643264" "00024072" "70" "2266" "-1" "2266" "-1" "c.2266-1G>T" "r.spl" "p.?" "15" "ROD1, Ig-like 5" "0000643265" "00024072" "50" "2375" "0" "2375" "0" "c.2375G>T" "r.(?)" "p.(Ser792Ile)" "15" "ROD1, Ig-like 6" "0000643266" "00024072" "50" "2425" "0" "2425" "0" "c.2425G>A" "r.(?)" "p.(Val809Met)" "16" "ROD1, Ig-like 6" "0000643267" "00024072" "50" "2450" "0" "2450" "0" "c.2450T>C" "r.(?)" "p.(Ile817Thr)" "16" "ROD1, Ig-like 6" "0000643268" "00024072" "50" "2587" "0" "2587" "0" "c.2587C>T" "r.(?)" "p.(Pro863Ser)" "17" "ROD1, Ig-like 7" "0000643269" "00024072" "50" "2737" "0" "2737" "0" "c.2737G>A" "r.(?)" "p.(Glu913Lys)" "18" "ROD1, Ig-like 7" "0000643270" "00024072" "70" "2784" "0" "2784" "0" "c.2784C>G" "r.(?)" "p.(Tyr928*)" "18" "ROD1, Ig-like 7" "0000643271" "00024072" "50" "2812" "-4" "2812" "-4" "c.2812-4A>G" "r.spl?" "p.?" "19" "ROD1, Ig-like 7" "0000643272" "00024072" "70" "2838" "0" "2838" "0" "c.2838T>A" "r.(?)" "p.(Tyr946*)" "19" "ROD1, Ig-like 7" "0000643273" "00024072" "70" "2888" "0" "2888" "0" "c.2888del" "r.(?)" "p.(Pro963Argfs*26)" "19" "ROD1, Ig-like 8" "0000643274" "00024072" "70" "2930" "-1" "2930" "-1" "c.2930-1G>T" "r.spl" "p.?" "20" "ROD1, Ig-like 8" "0000643275" "00024072" "70" "2971" "0" "2971" "0" "c.2971C>T" "r.(?)" "p.(Arg991*)" "20" "ROD1, Ig-like 8" "0000643276" "00024072" "70" "3180" "0" "3180" "0" "c.3180del" "r.(?)" "p.(Asp1061Ilefs*17)" "20" "ROD1, Ig-like 9" "0000643277" "00024072" "70" "3070" "0" "3070" "0" "c.3070C>T" "r.(?)" "p.(Gln1024*)" "20" "ROD1, Ig-like 8" "0000643278" "00024072" "70" "3310" "0" "3310" "0" "c.3310G>T" "r.(?)" "p.(Glu1104*)" "21" "ROD1, Ig-like 9" "0000643279" "00024072" "70" "3380" "0" "3402" "0" "c.3380_3402dup" "r.(?)" "p.(Phe1135Alafs*62)" "21" "ROD1, Ig-like 9" "0000643280" "00024072" "50" "3581" "0" "3581" "0" "c.3581C>T" "r.(?)" "p.(Ser1194Leu)" "21" "ROD1, Ig-like 10" "0000643281" "00024072" "70" "3592" "0" "3592" "0" "c.3592dup" "r.(?)" "p.(Val1198Glyfs*64)" "21" "ROD1, Ig-like 10" "0000643282" "00024072" "50" "3623" "0" "3623" "0" "c.3623C>T" "r.(?)" "p.(Ala1208Val)" "21" "ROD1, Ig-like 10" "0000643283" "00024072" "50" "3547" "0" "3548" "0" "c.3547_3548delinsCT" "r.(?)" "p.(Ala1183Leu)" "21" "ROD1, Ig-like 10" "0000643284" "00024072" "70" "3557" "0" "3557" "0" "c.3557C>T" "r.(?)" "p.(Ala1186Val)" "21" "ROD1, Ig-like 10" "0000643285" "00024072" "70" "3646" "0" "3646" "0" "c.3646T>A" "r.(?)" "p.(Tyr1216Asn)" "21" "ROD1, Ig-like 10" "0000643286" "00024072" "50" "3706" "0" "3706" "0" "c.3706C>T" "r.(?)" "p.(Pro1236Ser)" "21" "ROD1, Ig-like 10" "0000643287" "00024072" "50" "3721" "0" "3721" "0" "c.3721C>T" "r.(?)" "p.(Arg1241Cys)" "21" "ROD1, Ig-like 10" "0000643288" "00024072" "70" "3791" "-1" "3791" "-1" "c.3791-1G>A" "r.spl" "p.?" "22" "ROD1, Ig-like 11" "0000643289" "00024072" "70" "3791" "-1" "3791" "-1" "c.3791-1G>C" "r.spl" "p.?" "22" "ROD1, Ig-like 11" "0000643290" "00024072" "70" "3838" "0" "3838" "0" "c.3838dup" "r.(?)" "p.(Leu1280Profs*52)" "22" "ROD1, Ig-like 11" "0000643291" "00024072" "70" "3965" "-2" "3965" "-2" "c.3965-2A>T" "r.spl" "p.?" "23" "ROD1, Ig-like 11" "0000643292" "00024072" "70" "4060" "0" "4060" "0" "c.4060C>T" "r.(?)" "p.(Arg1354*)" "23" "ROD1, Ig-like 12" "0000643293" "00024072" "70" "4106" "0" "4106" "0" "c.4106dup" "r.(?)" "p.(Asn1369Lysfs*36)" "23" "ROD1, Ig-like 12" "0000643294" "00024072" "70" "4127" "1" "4127" "1" "c.4127+1del" "r.spl" "p.?" "23" "ROD1, Ig-like 12" "0000643295" "00024072" "70" "4271" "0" "4271" "0" "c.4271G>T" "r.(?)" "p.(Gly1424Val)" "24" "ROD1, Ig-like 12" "0000643296" "00024072" "70" "4580" "1" "4580" "1" "c.4580+1G>T" "r.spl" "p.?" "26" "ROD1, Ig-like 13" "0000643297" "00024072" "70" "4615" "0" "4615" "0" "c.4615G>A" "r.(?)" "p.(Ala1539Thr)" "27" "ROD1, Ig-like 14" "0000643298" "00024072" "50" "4700" "0" "4700" "0" "c.4700G>A" "r.(?)" "p.(Arg1567Gln)" "27" "ROD1, Ig-like 14" "0000643299" "00024072" "70" "4718" "0" "4718" "0" "c.4718T>A" "r.(?)" "p.(Leu1573*)" "27" "ROD1, Ig-like 14" "0000643300" "00024072" "50" "4636" "0" "4636" "0" "c.4636G>A" "r.(?)" "p.(Gly1546Ser)" "27" "ROD1, Ig-like 14" "0000643301" "00024072" "50" "4737" "3" "4737" "3" "c.4737+3G>T" "r.spl?" "p.?" "27" "ROD1, Ig-like 14" "0000643302" "00024072" "50" "4795" "0" "4795" "0" "c.4795A>G" "r.(?)" "p.(Thr1599Ala)" "28" "ROD1, Ig-like 14" "0000643303" "00024072" "70" "4927" "1" "4927" "1" "c.4927+1del" "r.spl" "p.?" "28" "ROD1, Ig-like 15" "0000643304" "00024072" "70" "4871" "0" "4871" "0" "c.4871C>T" "r.(?)" "p.(Ser1624Leu)" "28" "ROD1, Ig-like 14" "0000643305" "00024072" "50" "4927" "2" "4927" "2" "c.4927+2T>A" "r.spl" "p.?" "28" "ROD1, Ig-like 15" "0000643306" "00024072" "70" "4969" "0" "4969" "0" "c.4969C>T" "r.(?)" "p.(Arg1657*)" "30" "ROD1, Ig-like 15" "0000643307" "00024072" "50" "5036" "0" "5036" "0" "c.5036C>A" "r.(?)" "p.(Thr1679Lys)" "30" "ROD1, Ig-like 15" "0000643308" "00024072" "50" "5042" "0" "5042" "0" "c.5042C>T" "r.(?)" "p.(Thr1681Met)" "30" "ROD1, Ig-like 15" "0000643309" "00024072" "50" "5068" "0" "5068" "0" "c.5068C>T" "r.(?)" "p.(Leu1690Phe)" "30" "ROD1, Ig-like 15" "0000643310" "00024072" "50" "5125" "0" "5125" "0" "c.5125C>T" "r.(?)" "p.(Pro1709Ser)" "30" "ROD1, Ig-like 15" "0000643311" "00024072" "50" "5132" "0" "5132" "0" "c.5132C>T" "r.(?)" "p.(Pro1711Leu)" "30" "ROD1, Ig-like 15" "0000643312" "00024072" "50" "4997" "0" "4997" "0" "c.4997T>C" "r.(?)" "p.(Ile1666Thr)" "30" "ROD1, Ig-like 15" "0000643313" "00024072" "70" "5071" "0" "5071" "0" "c.5071G>A" "r.(?)" "p.(Asp1691Asn)" "30" "ROD1, Ig-like 15" "0000643314" "00024072" "70" "5160" "0" "5160" "0" "c.5160del" "r.(?)" "p.(Phe1720Leufs*63)" "30" "ROD1, Ig-like 15" "0000643315" "00024072" "70" "5165" "0" "5165" "0" "c.5165del" "r.(?)" "p.(Gly1722Valfs*61)" "30" "ROD1, Ig-like 15" "0000643316" "00024072" "50" "5278" "0" "5278" "0" "c.5278G>A" "r.(?)" "p.(Gly1760Ser)" "31" "ROD2, Ig-like 16" "0000643317" "00024072" "70" "5398" "0" "5398" "0" "c.5398G>T" "r.(?)" "p.(Gly1800*)" "32" "ROD2, Ig-like 16" "0000643318" "00024072" "70" "5520" "0" "5520" "0" "c.5520T>A" "r.(?)" "p.(Tyr1840*)" "33" "ROD2, Ig-like 16" "0000643319" "00024072" "70" "5539" "1" "5539" "1" "c.5539+1G>C" "r.spl" "p.?" "33" "ROD2, Ig-like 16" "0000643320" "00024072" "70" "5672" "0" "5672" "0" "c.5672del" "r.(?)" "p.(Gly1891Valfs*62)" "35" "ROD2, Ig-like 17" "0000643321" "00024072" "50" "5791" "0" "5791" "0" "c.5791C>T" "r.(?)" "p.(Arg1931Cys)" "35" "ROD2, Ig-like 17" "0000643322" "00024072" "50" "5839" "0" "5841" "0" "c.5839_5841dup" "r.(?)" "p.(Thr1947dup)" "35" "ROD2, Ig-like 18" "0000643323" "00024072" "50" "5888" "0" "5888" "0" "c.5888C>T" "r.(?)" "p.(Thr1963Met)" "36" "ROD2, Ig-like 18" "0000643324" "00024072" "50" "5954" "0" "5954" "0" "c.5954C>T" "r.(?)" "p.(Ser1985Leu)" "36" "ROD2, Ig-like 18" "0000643325" "00024072" "50" "5996" "0" "5996" "0" "c.5996G>A" "r.(?)" "p.(Arg1999Gln)" "36" "ROD2, Ig-like 18" "0000643326" "00024072" "50" "6032" "0" "6032" "0" "c.6032G>A" "r.(?)" "p.(Gly2011Glu)" "37" "ROD2, Ig-like 18" "0000643327" "00024072" "50" "6053" "0" "6053" "0" "c.6053G>A" "r.(?)" "p.(Arg2018His)" "37" "ROD2, Ig-like 18" "0000643328" "00024072" "50" "6100" "0" "6100" "0" "c.6100G>C" "r.(?)" "p.(Gly2034Arg)" "37" "ROD2, Ig-like 18" "0000643329" "00024072" "70" "6115" "0" "6115" "0" "c.6115G>A" "r.(?)" "p.(Gly2039Arg)" "37" "ROD2, Ig-like 19" "0000643330" "00024072" "50" "6134" "0" "6134" "0" "c.6134G>A" "r.(?)" "p.(Arg2045Gln)" "37" "ROD2, Ig-like 19" "0000643331" "00024072" "50" "6205" "0" "6205" "0" "c.6205G>A" "r.(?)" "p.(Ala2069Thr)" "37" "ROD2, Ig-like 19" "0000643332" "00024072" "70" "6208" "0" "6208" "0" "c.6208G>A" "r.(?)" "p.(Gly2070Ser)" "37" "ROD2, Ig-like 19" "0000643333" "00024072" "70" "6231" "0" "6231" "0" "c.6231del" "r.(?)" "p.(Ser2077Argfs*50)" "38" "ROD2, Ig-like 19" "0000643334" "00024072" "70" "6240" "0" "6259" "0" "c.6240_6259del" "r.(?)" "p.(Pro2081Leufs*2)" "38" "ROD2, Ig-like 19" "0000643335" "00024072" "70" "6255" "0" "6256" "0" "c.6255_6256del" "r.(?)" "p.(Ile2086Glnfs*3)" "38" "ROD2, Ig-like 19" "0000643336" "00024072" "70" "6397" "0" "6397" "0" "c.6397C>T" "r.(?)" "p.(Arg2133Cys)" "39" "ROD2, Intradomain" "0000643337" "00024072" "70" "6398" "0" "6398" "0" "c.6398G>A" "r.(?)" "p.(Arg2133His)" "39" "ROD2, Intradomain" "0000643338" "00024072" "70" "6419" "0" "6419" "0" "c.6419G>A" "r.(?)" "p.(Arg2140Gln)" "39" "ROD2, Intradomain" "0000643339" "00024072" "50" "6451" "0" "6451" "0" "c.6451G>A" "r.(?)" "p.(Gly2151Ser)" "39" "ROD2, Intradomain" "0000643340" "00024072" "70" "6478" "0" "6478" "0" "c.6478A>T" "r.(?)" "p.(Ile2160Phe)" "39" "ROD2, Intradomain" "0000643341" "00024072" "50" "6518" "0" "6518" "0" "c.6518G>A" "r.(?)" "p.(Arg2173His)" "40" "ROD2, Intradomain" "0000643342" "00024072" "50" "6589" "0" "6589" "0" "c.6589C>T" "r.(?)" "p.(Arg2197Trp)" "40" "ROD2, Intradomain" "0000643343" "00024072" "70" "6614" "0" "6622" "0" "c.6614_6622del" "r.(?)" "p.(Val2205_Val2207del)" "40" "ROD2, Intradomain" "0000643344" "00024072" "50" "6538" "0" "6538" "0" "c.6538C>T" "r.(?)" "p.(Arg2180Cys)" "40" "ROD2, Intradomain" "0000643345" "00024072" "50" "6559" "0" "6559" "0" "c.6559C>T" "r.(?)" "p.(Arg2187Cys)" "40" "ROD2, Intradomain" "0000643346" "00024072" "50" "6526" "0" "6526" "0" "c.6526C>T" "r.(?)" "p.(Arg2176Cys)" "40" "ROD2, Intradomain" "0000643347" "00024072" "50" "6560" "0" "6560" "0" "c.6560G>C" "r.(?)" "p.(Arg2187Pro)" "40" "ROD2, Intradomain" "0000643348" "00024072" "50" "6713" "0" "6713" "0" "c.6713C>T" "r.(?)" "p.(Thr2238Ile)" "40" "ROD2, Intradomain" "0000643349" "00024072" "50" "6790" "0" "6790" "0" "c.6790G>A" "r.(?)" "p.(Ala2264Thr)" "41" "ROD2, Ig-like 20" "0000643350" "00024072" "50" "6860" "0" "6860" "0" "c.6860C>A" "r.(?)" "p.(Thr2287Lys)" "41" "ROD2, Ig-like 20" "0000643351" "00024072" "70" "6864" "0" "6867" "0" "c.6864_6867dup" "r.(?)" "p.(Val2290Argfs*23)" "41" "ROD2, Ig-like 20" "0000643352" "00024072" "50" "6877" "0" "6877" "0" "c.6877C>T" "r.(?)" "p.(Arg2293Cys)" "41" "ROD2, Ig-like 20" "0000643353" "00024072" "70" "6892" "0" "6892" "0" "c.6892C>T" "r.(?)" "p.(Pro2298Ser)" "41" "ROD2, Ig-like 20" "0000643354" "00024072" "50" "6895" "0" "6895" "0" "c.6895G>A" "r.(?)" "p.(Gly2299Ser)" "41" "ROD2, Ig-like 20" "0000643355" "00024072" "70" "6901" "0" "6901" "0" "c.6901C>G" "r.(?)" "p.(Pro2301Ala)" "41" "ROD2, Ig-like 20" "0000643356" "00024072" "70" "6907" "0" "6907" "0" "c.6907C>T" "r.(?)" "p.(Gln2303*)" "41" "ROD2, Ig-like 20" "0000643357" "00024072" "70" "6943" "0" "6943" "0" "c.6943C>A" "r.(?)" "p.(His2315Asn)" "41" "ROD2, Ig-like 21" "0000643358" "00024072" "50" "6952" "0" "6952" "0" "c.6952C>T" "r.(?)" "p.(Arg2318Trp)" "41" "ROD2, Ig-like 21" "0000643359" "00024072" "70" "6976" "0" "6976" "0" "c.6976C>T" "r.(?)" "p.(Arg2326*)" "41" "ROD2, Ig-like 21" "0000643360" "00024072" "70" "6989" "0" "6989" "0" "c.6989dup" "r.(?)" "p.(Val2331Argfs*25)" "41" "ROD2, Ig-like 21" "0000643361" "00024072" "70" "6889" "0" "6889" "0" "c.6889G>A" "r.(?)" "p.(Val2297Met)" "41" "ROD2, Ig-like 20" "0000643362" "00024072" "70" "6893" "0" "6893" "0" "c.6893C>T" "r.(?)" "p.(Pro2298Leu)" "41" "ROD2, Ig-like 20" "0000643363" "00024072" "50" "6902" "0" "6902" "0" "c.6902C>T" "r.(?)" "p.(Pro2301Leu)" "41" "ROD2, Ig-like 20" "0000643364" "00024072" "50" "6808" "0" "6808" "0" "c.6808G>A" "r.(?)" "p.(Glu2270Lys)" "41" "ROD2, Ig-like 20" "0000643365" "00024072" "50" "6824" "0" "6824" "0" "c.6824G>T" "r.(?)" "p.(Ser2275Ile)" "41" "ROD2, Ig-like 20" "0000643366" "00024072" "50" "7030" "0" "7030" "0" "c.7030G>A" "r.(?)" "p.(Ala2344Thr)" "42" "ROD2, Ig-like 21" "0000643367" "00024072" "50" "7076" "0" "7076" "0" "c.7076T>C" "r.(?)" "p.(Ile2359Thr)" "42" "ROD2, Ig-like 21" "0000643368" "00024072" "70" "7118" "0" "7119" "0" "c.7118_7119del" "r.(?)" "p.(Tyr2373Cysfs*7)" "42" "ROD2, Ig-like 21" "0000643369" "00024072" "70" "7123" "0" "7123" "0" "c.7123G>C" "r.(?)" "p.(Val2375Leu)" "42" "ROD2, Ig-like 21" "0000643370" "00024072" "50" "7123" "0" "7123" "0" "c.7123G>T" "r.(?)" "p.(Val2375Phe)" "42" "ROD2, Ig-like 21" "0000643371" "00024072" "50" "7034" "0" "7034" "0" "c.7034G>A" "r.(?)" "p.(Gly2345Glu)" "42" "ROD2, Ig-like 21" "0000643372" "00024072" "50" "7091" "0" "7091" "0" "c.7091G>A" "r.(?)" "p.(Arg2364His)" "42" "ROD2, Ig-like 21" "0000643373" "00024072" "50" "7123" "0" "7123" "0" "c.7123G>A" "r.(?)" "p.(Val2375Ile)" "42" "ROD2, Ig-like 21" "0000643374" "00024072" "50" "7228" "0" "7228" "0" "c.7228C>T" "r.(?)" "p.(Arg2410Cys)" "43" "ROD2, Ig-like 22" "0000643375" "00024072" "50" "7250" "0" "7250" "0" "c.7250A>C" "r.(?)" "p.(Gln2417Pro)" "43" "ROD2, Ig-like 22" "0000643376" "00024072" "70" "7251" "1" "7251" "1" "c.7251+1G>A" "r.spl" "p.?" "43" "ROD2, Ig-like 22" "0000643377" "00024072" "70" "7177" "0" "7177" "0" "c.7177C>T" "r.(?)" "p.(Pro2393Ser)" "43" "ROD2, Ig-like 21" "0000643378" "00024072" "50" "7141" "0" "7141" "0" "c.7141T>G" "r.(?)" "p.(Tyr2381Asp)" "43" "ROD2, Ig-like 21" "0000643379" "00024072" "50" "7289" "0" "7289" "0" "c.7289C>T" "r.(?)" "p.(Ala2430Val)" "44" "ROD2, Ig-like 22" "0000643380" "00024072" "50" "7256" "0" "7256" "0" "c.7256C>T" "r.(?)" "p.(Thr2419Met)" "44" "ROD2, Ig-like 22" "0000643381" "00024072" "50" "7450" "0" "7450" "0" "c.7450G>A" "r.(?)" "p.(Gly2484Ser)" "45" "ROD2, Ig-like 22" "0000643382" "00024072" "70" "7484" "0" "7484" "0" "c.7484G>A" "r.(?)" "p.(Arg2495His)" "45" "ROD2, Ig-like 22" "0000643383" "00024072" "50" "7514" "0" "7514" "0" "c.7514C>T" "r.(?)" "p.(Pro2505Leu)" "45" "ROD2, Ig-like 23" "0000643384" "00024072" "70" "7536" "0" "7548" "0" "c.7536_7548del" "r.(?)" "p.(Pro2513Glufs*12)" "45" "ROD2, Ig-like 23" "0000643385" "00024072" "70" "7645" "0" "7645" "0" "c.7645C>T" "r.(?)" "p.(Gln2549*)" "46" "ROD2, Ig-like 23" "0000643386" "00024072" "50" "7652" "0" "7652" "0" "c.7652A>G" "r.(?)" "p.(Asp2551Gly)" "46" "ROD2, Ig-like 23" "0000643387" "00024072" "70" "7665" "0" "7665" "0" "c.7665T>A" "r.(?)" "p.(Cys2555*)" "46" "ROD2, Ig-like 23" "0000643388" "00024072" "70" "7688" "0" "7688" "0" "c.7688A>G" "r.(?)" "p.(Tyr2563Cys)" "46" "ROD2, Ig-like 23" "0000643389" "00024072" "70" "7724" "0" "7724" "0" "c.7724T>A" "r.(?)" "p.(Ile2575Asn)" "46" "ROD2, Ig-like 23" "0000643390" "00024072" "50" "7781" "0" "7781" "0" "c.7781G>C" "r.(?)" "p.(Gly2594Ala)" "47" "ROD2, Hinge 2" "0000643391" "00024072" "50" "7853" "0" "7853" "0" "c.7853C>T" "r.(?)" "p.(Ser2618Phe)" "47" "ROD2, Hinge 2" "0000643392" "00024072" "50" "7927" "0" "7935" "0" "c.7927_7935del" "r.(?)" "p.(Pro2643_Leu2645del)" "47" "ROD2, Ig-like 24" "0000643393" "00024072" "70" "8107" "0" "8107" "0" "c.8107del" "r.(?)" "p.(Asp2703Thrfs*69)" "48" "Dimerization, Ig-like 24" "0000643394" "00024072" "70" "8130" "0" "8130" "0" "c.8130G>A" "r.(?)" "p.(Trp2710*)" "48" "Dimerization, Ig-like 24" "0000643395" "00024072" "50" "241" "0" "241" "0" "c.241C>T" "r.(?)" "p.(Arg81Cys)" "1" "CH1, ABD" "0000643396" "00024072" "50" "968" "0" "968" "0" "c.968A>T" "r.(?)" "p.(Glu323Val)" "5" "Ig-like 1, ROD1" "0000643397" "00024072" "50" "1141" "0" "1141" "0" "c.1141C>T" "r.(?)" "p.(Arg381Cys)" "7" "Ig-like 2, ROD1" "0000643398" "00024072" "50" "1171" "0" "1171" "0" "c.1171G>T" "r.(?)" "p.(Val391Leu)" "7" "Ig-like 2, ROD1" "0000643399" "00024072" "50" "1571" "0" "1571" "0" "c.1571A>G" "r.(?)" "p.(Lys524Arg)" "10" "Ig-like 3, ROD1" "0000643400" "00024072" "50" "2128" "0" "2128" "0" "c.2128G>A" "r.(?)" "p.(Asp710Asn)" "14" "Ig-like 5, ROD1" "0000643401" "00024072" "50" "2416" "0" "2416" "0" "c.2416G>A" "r.(?)" "p.(Ala806Thr)" "16" "Ig-like 6, ROD1" "0000643402" "00024072" "50" "2491" "0" "2491" "0" "c.2491G>A" "r.(?)" "p.(Val831Ile)" "16" "Ig-like 6, ROD1" "0000643403" "00024072" "50" "3092" "0" "3092" "0" "c.3092del" "r.(?)" "p.(Pro1031Argfs*47)" "20" "Ig-like 8, ROD1" "0000643404" "00024072" "50" "3139" "0" "3139" "0" "c.3139G>C" "r.(?)" "p.(Val1047Leu)" "20" "Ig-like 8, ROD1" "0000643405" "00024072" "50" "3488" "0" "3488" "0" "c.3488C>G" "r.(?)" "p.(Pro1163Arg)" "21" "Ig-like 10, ROD1" "0000643406" "00024072" "50" "4003" "0" "4003" "0" "c.4003G>A" "r.(?)" "p.(Val1335Met)" "23" "Ig-like 11, ROD1" "0000643407" "00024072" "50" "4092" "0" "4092" "0" "c.4092G>C" "r.(?)" "p.(Leu1364Phe)" "23" "Ig-like 12, ROD1" "0000643408" "00024072" "50" "4109" "0" "4109" "0" "c.4109G>A" "r.(?)" "p.(Arg1370Gln)" "23" "Ig-like 12, ROD1" "0000643409" "00024072" "50" "4651" "0" "4651" "0" "c.4651G>A" "r.(?)" "p.(Ala1551Thr)" "27" "Ig-like 14, ROD1" "0000643410" "00024072" "50" "4711" "0" "4711" "0" "c.4711G>A" "r.(?)" "p.(Glu1571Lys)" "27" "Ig-like 14, ROD1" "0000643411" "00024072" "50" "5272" "0" "5272" "0" "c.5272C>T" "r.(?)" "p.(Arg1758Trp)" "31" "Hinge 1, Hinge 1" "0000643412" "00024072" "50" "5578" "0" "5578" "0" "c.5578C>T" "r.(?)" "p.(Arg1860Cys)" "34" "Ig-like 17, ROD2" "0000643413" "00024072" "50" "6041" "0" "6041" "0" "c.6041T>C" "r.(?)" "p.(Val2014Ala)" "37" "Ig-like 18, ROD2" "0000643414" "00024072" "50" "6074" "0" "6074" "0" "c.6074C>T" "r.(?)" "p.(Thr2025Ile)" "37" "Ig-like 18, ROD2" "0000643415" "00024072" "50" "6953" "0" "6953" "0" "c.6953G>A" "r.(?)" "p.(Arg2318Gln)" "41" "Ig-like 21, ROD2" "0000643416" "00024072" "50" "7382" "0" "7382" "0" "c.7382G>A" "r.(?)" "p.(Ser2461Asn)" "44" "Ig-like 22, ROD2" "0000646958" "00024072" "90" "2791" "0" "2805" "0" "c.2791_2805del" "r.(?)" "p.(Lys931_Val935del)" "18" "" "0000647275" "00024072" "70" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Ala193Thr)" "" "" "0000652176" "00024072" "50" "1474" "0" "1474" "0" "c.1474A>G" "r.(?)" "p.(Lys492Glu)" "" "" "0000652177" "00024072" "10" "2078" "0" "2078" "0" "c.2078A>C" "r.(?)" "p.(Asp693Ala)" "" "" "0000652178" "00024072" "10" "3721" "0" "3721" "0" "c.3721C>T" "r.(?)" "p.(Arg1241Cys)" "" "" "0000652179" "00024072" "50" "5468" "0" "5468" "0" "c.5468C>T" "r.(?)" "p.(Thr1823Met)" "" "" "0000652181" "00024072" "10" "6004" "11" "6004" "11" "c.6004+11G>A" "r.(=)" "p.(=)" "" "" "0000655737" "00024072" "30" "318" "0" "318" "0" "c.318C>G" "r.(?)" "p.(Phe106Leu)" "" "" "0000655738" "00024072" "10" "851" "-7" "851" "-7" "c.851-7C>A" "r.(=)" "p.(=)" "" "" "0000655739" "00024072" "30" "853" "0" "853" "0" "c.853A>G" "r.(?)" "p.(Ile285Val)" "" "" "0000655740" "00024072" "50" "977" "0" "977" "0" "c.977T>C" "r.(?)" "p.(Val326Ala)" "" "" "0000655741" "00024072" "50" "1019" "0" "1019" "0" "c.1019A>G" "r.(?)" "p.(Tyr340Cys)" "" "" "0000655742" "00024072" "50" "1471" "0" "1471" "0" "c.1471G>A" "r.(?)" "p.(Val491Met)" "" "" "0000655743" "00024072" "50" "1645" "0" "1645" "0" "c.1645A>G" "r.(?)" "p.(Ile549Val)" "" "" "0000655744" "00024072" "50" "1673" "0" "1673" "0" "c.1673G>A" "r.(?)" "p.(Arg558His)" "" "" "0000655745" "00024072" "50" "1682" "0" "1682" "0" "c.1682T>C" "r.(?)" "p.(Phe561Ser)" "" "" "0000655746" "00024072" "50" "1960" "0" "1960" "0" "c.1960T>C" "r.(?)" "p.(Phe654Leu)" "" "" "0000655747" "00024072" "10" "2490" "0" "2490" "0" "c.2490C>T" "r.(?)" "p.(Thr830=)" "" "" "0000655748" "00024072" "10" "3000" "0" "3000" "0" "c.3000T>C" "r.(?)" "p.(Asp1000=)" "" "" "0000655749" "00024072" "30" "3153" "0" "3153" "0" "c.3153G>A" "r.(?)" "p.(Pro1051=)" "" "" "0000655750" "00024072" "90" "3180" "0" "3180" "0" "c.3180del" "r.(?)" "p.(Asp1061IlefsTer17)" "" "" "0000655751" "00024072" "30" "3623" "0" "3623" "0" "c.3623C>T" "r.(?)" "p.(Ala1208Val)" "" "" "0000655752" "00024072" "90" "4387" "0" "4387" "0" "c.4387C>T" "r.(?)" "p.(Gln1463Ter)" "" "" "0000655753" "00024072" "50" "4711" "0" "4711" "0" "c.4711G>A" "r.(?)" "p.(Glu1571Lys)" "" "" "0000655754" "00024072" "50" "5155" "0" "5155" "0" "c.5155C>T" "r.(?)" "p.(Arg1719Cys)" "" "" "0000655755" "00024072" "50" "5278" "0" "5278" "0" "c.5278G>A" "r.(?)" "p.(Gly1760Ser)" "" "" "0000655756" "00024072" "30" "5842" "7" "5842" "7" "c.5842+7C>T" "r.(=)" "p.(=)" "" "" "0000655757" "00024072" "50" "6049" "0" "6049" "0" "c.6049G>A" "r.(?)" "p.(Val2017Met)" "" "" "0000655758" "00024072" "50" "6052" "0" "6052" "0" "c.6052C>T" "r.(?)" "p.(Arg2018Cys)" "" "" "0000655759" "00024072" "10" "6588" "0" "6588" "0" "c.6588G>A" "r.(?)" "p.(Thr2196=)" "" "" "0000655760" "00024072" "50" "6716" "0" "6716" "0" "c.6716G>T" "r.(?)" "p.(Arg2239Leu)" "" "" "0000655761" "00024072" "10" "6988" "0" "6988" "0" "c.6988G>A" "r.(?)" "p.(Gly2330Ser)" "" "" "0000655762" "00024072" "30" "7365" "0" "7365" "0" "c.7365C>T" "r.(?)" "p.(Tyr2455=)" "" "" "0000655763" "00024072" "50" "7669" "0" "7669" "0" "c.7669G>A" "r.(?)" "p.(Glu2557Lys)" "" "" "0000660115" "00024072" "50" "4229" "0" "4229" "0" "c.4229T>A" "r.(?)" "p.(Ile1410Asn)" "" "" "0000663265" "00024072" "50" "7205" "0" "7205" "0" "c.7205C>A" "r.(?)" "p.(Ala2402Asp)" "" "" "0000664825" "00024072" "50" "4102" "0" "4102" "0" "c.4102G>C" "r.(?)" "p.(Ala1368Pro)" "" "" "0000670722" "00024072" "50" "3706" "0" "3706" "0" "c.3706C>T" "r.(?)" "p.(Pro1236Ser)" "" "" "0000670747" "00024072" "50" "5278" "0" "5278" "0" "c.5278G>A" "r.(?)" "p.(Gly1760Ser)" "" "" "0000675294" "00024072" "90" "3557" "0" "3557" "0" "c.3557C>T" "r.(?)" "p.(Ala1186Val)" "" "" "0000677950" "00024072" "30" "449" "0" "449" "0" "c.449A>G" "r.(?)" "p.(Asp150Gly)" "" "" "0000677951" "00024072" "90" "554" "0" "554" "0" "c.554G>A" "r.(?)" "p.(Trp185Ter)" "" "" "0000677952" "00024072" "30" "602" "-16" "602" "-16" "c.602-16T>A" "r.(=)" "p.(=)" "" "" "0000677953" "00024072" "30" "699" "34" "699" "34" "c.699+34G>A" "r.(=)" "p.(=)" "" "" "0000677954" "00024072" "50" "1166" "0" "1166" "0" "c.1166G>A" "r.(?)" "p.(Gly389Asp)" "" "" "0000677955" "00024072" "50" "1225" "0" "1225" "0" "c.1225G>A" "r.(?)" "p.(Asp409Asn)" "" "" "0000677957" "00024072" "30" "1518" "0" "1518" "0" "c.1518C>T" "r.(?)" "p.(Ser506=)" "" "" "0000677958" "00024072" "50" "1605" "0" "1605" "0" "c.1605C>T" "r.(?)" "p.(Cys535=)" "" "" "0000677959" "00024072" "70" "1690" "0" "1690" "0" "c.1690C>T" "r.(?)" "p.(Gln564Ter)" "" "" "0000677960" "00024072" "90" "1776" "0" "1776" "0" "c.1776dup" "r.(?)" "p.(Val593CysfsTer27)" "" "" "0000677961" "00024072" "90" "1813" "2" "1813" "2" "c.1813+2T>C" "r.spl?" "p.?" "" "" "0000677962" "00024072" "10" "1953" "0" "1953" "0" "c.1953C>T" "r.(?)" "p.(Asp651=)" "" "" "0000677963" "00024072" "30" "1976" "0" "1976" "0" "c.1976T>G" "r.(?)" "p.(Leu659Arg)" "" "" "0000677964" "00024072" "30" "1976" "0" "1976" "0" "c.1976T>G" "r.(?)" "p.(Leu659Arg)" "" "" "0000677965" "00024072" "50" "2041" "0" "2041" "0" "c.2041G>A" "r.(?)" "p.(Gly681Ser)" "" "" "0000677966" "00024072" "30" "2128" "0" "2128" "0" "c.2128G>A" "r.(?)" "p.(Asp710Asn)" "" "" "0000677967" "00024072" "50" "2272" "0" "2272" "0" "c.2272G>A" "r.(?)" "p.(Val758Met)" "" "" "0000677968" "00024072" "50" "2345" "0" "2345" "0" "c.2345A>G" "r.(?)" "p.(Asn782Ser)" "" "" "0000677969" "00024072" "30" "2519" "0" "2519" "0" "c.2519G>A" "r.(?)" "p.(Arg840His)" "" "" "0000677970" "00024072" "70" "2630" "0" "2637" "0" "c.2630_2637del" "r.(?)" "p.(Leu877HisfsTer40)" "" "" "0000677971" "00024072" "10" "2844" "0" "2844" "0" "c.2844G>A" "r.(?)" "p.(Gly948=)" "" "" "0000677972" "00024072" "30" "2982" "0" "2982" "0" "c.2982C>T" "r.(?)" "p.(Gly994=)" "" "" "0000677973" "00024072" "30" "2994" "0" "2994" "0" "c.2994A>G" "r.(?)" "p.(Gln998=)" "" "" "0000677974" "00024072" "50" "3055" "0" "3055" "0" "c.3055G>A" "r.(?)" "p.(Gly1019Ser)" "" "" "0000677975" "00024072" "90" "3180" "0" "3180" "0" "c.3180del" "r.(?)" "p.(Asp1061IlefsTer17)" "" "" "0000677976" "00024072" "50" "3380" "0" "3402" "0" "c.3380_3402dup" "r.(?)" "p.(Phe1135AlafsTer62)" "" "" "0000677977" "00024072" "30" "3791" "-19" "3791" "-19" "c.3791-19C>T" "r.(=)" "p.(=)" "" "" "0000677978" "00024072" "50" "4054" "0" "4054" "0" "c.4054C>T" "r.(?)" "p.(Arg1352Cys)" "" "" "0000677979" "00024072" "30" "4128" "-16" "4128" "-16" "c.4128-16G>A" "r.(=)" "p.(=)" "" "" "0000677980" "00024072" "30" "4153" "0" "4153" "0" "c.4153C>T" "r.(?)" "p.(Leu1385=)" "" "" "0000677981" "00024072" "90" "4456" "1" "4456" "1" "c.4456+1G>A" "r.spl?" "p.?" "" "" "0000677982" "00024072" "30" "4488" "0" "4488" "0" "c.4488T>C" "r.(?)" "p.(Asn1496=)" "" "" "0000677983" "00024072" "50" "4576" "0" "4576" "0" "c.4576C>G" "r.(?)" "p.(Arg1526Gly)" "" "" "0000677984" "00024072" "30" "5367" "0" "5367" "0" "c.5367C>T" "r.(?)" "p.(Ile1789=)" "" "" "0000677985" "00024072" "50" "5468" "0" "5468" "0" "c.5468C>T" "r.(?)" "p.(Thr1823Met)" "" "" "0000677986" "00024072" "50" "5539" "4" "5539" "4" "c.5539+4A>T" "r.spl?" "p.?" "" "" "0000677987" "00024072" "30" "5539" "8" "5539" "8" "c.5539+8A>T" "r.(=)" "p.(=)" "" "" "0000677988" "00024072" "50" "6526" "0" "6526" "0" "c.6526C>T" "r.(?)" "p.(Arg2176Cys)" "" "" "0000677989" "00024072" "70" "6593" "0" "6593" "0" "c.6593del" "r.(?)" "p.(Gly2198AlafsTer53)" "" "" "0000677990" "00024072" "30" "6808" "0" "6808" "0" "c.6808G>A" "r.(?)" "p.(Glu2270Lys)" "" "" "0000677991" "00024072" "30" "6808" "0" "6808" "0" "c.6808G>A" "r.(?)" "p.(Glu2270Lys)" "" "" "0000677992" "00024072" "30" "7120" "0" "7120" "0" "c.7120G>A" "r.(?)" "p.(Val2374Ile)" "" "" "0000677993" "00024072" "50" "7250" "0" "7250" "0" "c.7250A>T" "r.(?)" "p.(Gln2417Leu)" "" "" "0000677994" "00024072" "50" "7372" "0" "7372" "0" "c.7372G>A" "r.(?)" "p.(Glu2458Lys)" "" "" "0000677995" "00024072" "50" "7382" "0" "7382" "0" "c.7382G>A" "r.(?)" "p.(Ser2461Asn)" "" "" "0000677996" "00024072" "50" "7820" "0" "7820" "0" "c.7820C>A" "r.(?)" "p.(Ser2607Tyr)" "" "" "0000677997" "00024072" "50" "8050" "0" "8050" "0" "c.8050G>A" "r.(?)" "p.(Val2684Met)" "" "" "0000677998" "00024072" "50" "8173" "0" "8173" "0" "c.8173C>A" "r.(?)" "p.(Pro2725Thr)" "" "" "0000689899" "00024072" "30" "353" "-9" "353" "-9" "c.353-9C>T" "r.(=)" "p.(=)" "" "" "0000689900" "00024072" "50" "1166" "0" "1166" "0" "c.1166G>A" "r.(?)" "p.(Gly389Asp)" "" "" "0000689901" "00024072" "30" "1676" "16" "1676" "16" "c.1676+16C>T" "r.(=)" "p.(=)" "" "" "0000689902" "00024072" "30" "2199" "0" "2199" "0" "c.2199C>G" "r.(?)" "p.(Thr733=)" "" "" "0000689903" "00024072" "10" "3090" "0" "3090" "0" "c.3090C>T" "r.(?)" "p.(Pro1030=)" "" "" "0000689904" "00024072" "30" "3090" "0" "3090" "0" "c.3090C>T" "r.(?)" "p.(Pro1030=)" "" "" "0000689905" "00024072" "50" "3256" "0" "3256" "0" "c.3256G>A" "r.(?)" "p.(Asp1086Asn)" "" "" "0000689906" "00024072" "10" "3861" "0" "3861" "0" "c.3861C>T" "r.(?)" "p.(His1287=)" "" "" "0000689907" "00024072" "10" "4456" "14" "4456" "14" "c.4456+14G>A" "r.(=)" "p.(=)" "" "" "0000689908" "00024072" "10" "5262" "0" "5262" "0" "c.5262C>T" "r.(?)" "p.(Tyr1754=)" "" "" "0000689909" "00024072" "30" "5272" "0" "5272" "0" "c.5272C>T" "r.(?)" "p.(Arg1758Trp)" "" "" "0000689910" "00024072" "50" "5278" "0" "5278" "0" "c.5278G>A" "r.(?)" "p.(Gly1760Ser)" "" "" "0000689911" "00024072" "50" "6205" "0" "6205" "0" "c.6205G>A" "r.(?)" "p.(Ala2069Thr)" "" "" "0000689912" "00024072" "50" "6563" "0" "6563" "0" "c.6563C>T" "r.(?)" "p.(Thr2188Met)" "" "" "0000689913" "00024072" "30" "6888" "0" "6888" "0" "c.6888C>T" "r.(?)" "p.(His2296=)" "" "" "0000689914" "00024072" "50" "6958" "0" "6958" "0" "c.6958G>A" "r.(?)" "p.(Gly2320Arg)" "" "" "0000689915" "00024072" "30" "7038" "0" "7038" "0" "c.7038C>A" "r.(?)" "p.(Gly2346=)" "" "" "0000689916" "00024072" "50" "7289" "0" "7289" "0" "c.7289C>T" "r.(?)" "p.(Ala2430Val)" "" "" "0000689917" "00024072" "50" "7372" "0" "7372" "0" "c.7372G>A" "r.(?)" "p.(Glu2458Lys)" "" "" "0000689918" "00024072" "50" "7484" "0" "7484" "0" "c.7484G>A" "r.(?)" "p.(Arg2495His)" "" "" "0000689919" "00024072" "50" "7561" "0" "7561" "0" "c.7561G>A" "r.(?)" "p.(Gly2521Ser)" "" "" "0000689920" "00024072" "30" "8049" "0" "8049" "0" "c.8049C>T" "r.(?)" "p.(Tyr2683=)" "" "" "0000697560" "00024072" "70" "1325" "0" "1325" "0" "c.1325C>G" "r.(?)" "p.(Pro442Arg)" "" "" "0000697561" "00024072" "70" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Ala193Thr)" "" "" "0000697562" "00024072" "70" "643" "0" "643" "0" "c.643G>A" "r.(?)" "p.(Val215Met)" "" "" "0000697563" "00024072" "70" "719" "0" "719" "0" "c.719T>C" "r.(?)" "p.(Ile240Thr)" "" "" "0000697564" "00024072" "70" "754" "0" "754" "0" "c.754A>C" "r.(?)" "p.(Thr252Pro)" "" "" "0000697565" "00024072" "70" "1546" "0" "1546" "0" "c.1546C>A" "r.(?)" "p.(Pro516Thr)" "" "" "0000697566" "00024072" "70" "2084" "0" "2084" "0" "c.2084G>C" "r.(?)" "p.(Arg695Pro)" "" "" "0000697567" "00024072" "70" "2311" "0" "2311" "0" "c.2311G>A" "r.(?)" "p.(Gly771Ser)" "" "" "0000697568" "00024072" "70" "4706" "0" "4706" "0" "c.4706C>T" "r.(?)" "p.(Ala1569Val)" "" "" "0000697569" "00024072" "70" "5807" "0" "5807" "0" "c.5807A>C" "r.(?)" "p.(His1936Pro)" "" "" "0000697570" "00024072" "70" "5996" "0" "5996" "0" "c.5996G>A" "r.(?)" "p.(Arg1999Gln)" "" "" "0000697571" "00024072" "70" "8130" "0" "8130" "0" "c.8130G>A" "r.(?)" "p.(Trp2710*)" "" "" "0000704350" "00024072" "50" "2164" "0" "2164" "0" "c.2164G>A" "r.(?)" "p.(Gly722Ser)" "" "" "0000721224" "00024072" "30" "231" "0" "231" "0" "c.231C>T" "r.(?)" "p.(Leu77=)" "" "" "0000721225" "00024072" "50" "248" "0" "265" "0" "c.248_265dup" "r.(?)" "p.(Pro88_Arg89insHisArgLysPheHisPro)" "" "" "0000721226" "00024072" "50" "519" "0" "519" "0" "c.519G>A" "r.(?)" "p.(Val173=)" "" "" "0000721227" "00024072" "70" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Ala193Thr)" "" "" "0000721228" "00024072" "10" "597" "0" "597" "0" "c.597C>T" "r.(?)" "p.(Ala199=)" "" "" "0000721229" "00024072" "10" "642" "0" "642" "0" "c.642C>T" "r.(?)" "p.(Pro214=)" "" "" "0000721230" "00024072" "70" "700" "-2" "700" "-2" "c.700-2A>G" "r.spl?" "p.?" "" "" "0000721231" "00024072" "90" "805" "0" "805" "0" "c.805C>T" "r.(?)" "p.(Arg269*)" "" "" "0000721232" "00024072" "50" "898" "0" "898" "0" "c.898G>A" "r.(?)" "p.(Val300Met)" "" "" "0000721233" "00024072" "50" "905" "0" "905" "0" "c.905C>T" "r.(?)" "p.(Thr302Met)" "" "" "0000721234" "00024072" "30" "970" "-5" "970" "-5" "c.970-5A>G" "r.spl?" "p.?" "" "" "0000721235" "00024072" "50" "1000" "0" "1000" "0" "c.1000C>A" "r.(?)" "p.(Arg334Ser)" "" "" "0000721236" "00024072" "30" "1108" "0" "1108" "0" "c.1108A>G" "r.(?)" "p.(Met370Val)" "" "" "0000721237" "00024072" "50" "1348" "0" "1348" "0" "c.1348G>A" "r.(?)" "p.(Val450Met)" "" "" "0000721238" "00024072" "50" "1474" "0" "1474" "0" "c.1474A>G" "r.(?)" "p.(Lys492Glu)" "" "" "0000721239" "00024072" "30" "1474" "0" "1474" "0" "c.1474A>G" "r.(?)" "p.(Lys492Glu)" "" "" "0000721240" "00024072" "50" "1568" "0" "1568" "0" "c.1568T>C" "r.(?)" "p.(Val523Ala)" "" "" "0000721241" "00024072" "50" "1645" "0" "1645" "0" "c.1645A>G" "r.(?)" "p.(Ile549Val)" "" "" "0000721242" "00024072" "50" "1645" "0" "1645" "0" "c.1645A>G" "r.(?)" "p.(Ile549Val)" "" "" "0000721243" "00024072" "50" "1663" "0" "1663" "0" "c.1663G>A" "r.(?)" "p.(Ala555Thr)" "" "" "0000721244" "00024072" "50" "1885" "0" "1885" "0" "c.1885C>T" "r.(?)" "p.(Arg629Trp)" "" "" "0000721245" "00024072" "30" "1923" "0" "1923" "0" "c.1923C>T" "r.(?)" "p.(His641=)" "" "" "0000721246" "00024072" "50" "1924" "0" "1924" "0" "c.1924G>A" "r.(?)" "p.(Val642Ile)" "" "" "0000721247" "00024072" "50" "2350" "0" "2350" "0" "c.2350C>G" "r.(?)" "p.(Pro784Ala)" "" "" "0000721248" "00024072" "50" "2491" "0" "2491" "0" "c.2491G>A" "r.(?)" "p.(Val831Ile)" "" "" "0000721249" "00024072" "30" "2501" "0" "2501" "0" "c.2501C>T" "r.(?)" "p.(Thr834Met)" "" "" "0000721250" "00024072" "90" "2791" "0" "2805" "0" "c.2791_2805del" "r.(?)" "p.(Lys931_Val935del)" "" "" "0000721251" "00024072" "10" "2841" "0" "2841" "0" "c.2841C>T" "r.(?)" "p.(Gly947=)" "" "" "0000721252" "00024072" "10" "2982" "0" "2982" "0" "c.2982C>T" "r.(?)" "p.(Gly994=)" "" "" "0000721253" "00024072" "30" "3000" "0" "3000" "0" "c.3000T>C" "r.(?)" "p.(Asp1000=)" "" "" "0000721254" "00024072" "50" "3055" "0" "3055" "0" "c.3055G>A" "r.(?)" "p.(Gly1019Ser)" "" "" "0000721255" "00024072" "10" "3741" "0" "3741" "0" "c.3741G>A" "r.(?)" "p.(Ala1247=)" "" "" "0000721256" "00024072" "10" "3757" "0" "3757" "0" "c.3757G>A" "r.(?)" "p.(Val1253Ile)" "" "" "0000721257" "00024072" "50" "3967" "0" "3967" "0" "c.3967G>A" "r.(?)" "p.(Val1323Met)" "" "" "0000721258" "00024072" "50" "3967" "0" "3967" "0" "c.3967G>T" "r.(?)" "p.(Val1323Leu)" "" "" "0000721259" "00024072" "50" "4003" "0" "4003" "0" "c.4003G>A" "r.(?)" "p.(Val1335Met)" "" "" "0000721260" "00024072" "30" "4022" "0" "4022" "0" "c.4022G>A" "r.(?)" "p.(Arg1341Gln)" "" "" "0000721261" "00024072" "10" "4125" "0" "4125" "0" "c.4125C>T" "r.(?)" "p.(Thr1375=)" "" "" "0000721262" "00024072" "50" "4576" "0" "4576" "0" "c.4576C>G" "r.(?)" "p.(Arg1526Gly)" "" "" "0000721263" "00024072" "50" "4693" "0" "4693" "0" "c.4693G>A" "r.(?)" "p.(Asp1565Asn)" "" "" "0000721264" "00024072" "30" "5124" "0" "5124" "0" "c.5124G>A" "r.(?)" "p.(Ala1708=)" "" "" "0000721265" "00024072" "50" "5156" "0" "5156" "0" "c.5156G>A" "r.(?)" "p.(Arg1719His)" "" "" "0000721266" "00024072" "50" "5296" "0" "5296" "0" "c.5296T>C" "r.(?)" "p.(Trp1766Arg)" "" "" "0000721267" "00024072" "10" "5367" "0" "5367" "0" "c.5367C>T" "r.(?)" "p.(Ile1789=)" "" "" "0000721268" "00024072" "30" "5367" "0" "5367" "0" "c.5367C>T" "r.(?)" "p.(Ile1789=)" "" "" "0000721269" "00024072" "70" "6038" "0" "6038" "0" "c.6038del" "r.(?)" "p.(His2013Profs*3)" "" "" "0000721270" "00024072" "50" "6049" "0" "6049" "0" "c.6049G>A" "r.(?)" "p.(Val2017Met)" "" "" "0000721271" "00024072" "50" "6134" "0" "6134" "0" "c.6134G>A" "r.(?)" "p.(Arg2045Gln)" "" "" "0000721272" "00024072" "10" "6315" "0" "6315" "0" "c.6315C>T" "r.(?)" "p.(Pro2105=)" "" "" "0000721273" "00024072" "50" "6682" "0" "6682" "0" "c.6682C>T" "r.(?)" "p.(Arg2228Trp)" "" "" "0000721274" "00024072" "50" "6713" "0" "6713" "0" "c.6713C>T" "r.(?)" "p.(Thr2238Ile)" "" "" "0000721275" "00024072" "30" "6808" "0" "6808" "0" "c.6808G>A" "r.(?)" "p.(Glu2270Lys)" "" "" "0000721276" "00024072" "50" "6808" "0" "6808" "0" "c.6808G>A" "r.(?)" "p.(Glu2270Lys)" "" "" "0000721277" "00024072" "50" "6824" "0" "6824" "0" "c.6824G>T" "r.(?)" "p.(Ser2275Ile)" "" "" "0000721278" "00024072" "10" "6864" "0" "6864" "0" "c.6864C>T" "r.(?)" "p.(Val2288=)" "" "" "0000721279" "00024072" "90" "6913" "0" "6914" "0" "c.6913_6914del" "r.(?)" "p.(Thr2305Cysfs*6)" "" "" "0000721280" "00024072" "50" "7310" "0" "7310" "0" "c.7310G>A" "r.(?)" "p.(Arg2437Gln)" "" "" "0000721281" "00024072" "50" "7423" "0" "7423" "0" "c.7423G>A" "r.(?)" "p.(Val2475Ile)" "" "" "0000721282" "00024072" "50" "7657" "0" "7657" "0" "c.7657C>T" "r.(?)" "p.(Arg2553Trp)" "" "" "0000721283" "00024072" "30" "7991" "-19" "7991" "-19" "c.7991-19C>T" "r.(=)" "p.(=)" "" "" "0000729366" "00024072" "30" "4055" "0" "4055" "0" "c.4055G>A" "r.(?)" "p.(Arg1352His)" "23" "" "0000787282" "00024072" "50" "2848" "0" "2848" "0" "c.2848C>G" "r.(?)" "p.(Pro950Ala)" "19" "" "0000787571" "00024072" "50" "1936" "0" "1936" "0" "c.1936G>A" "r.(?)" "p.(Asp646Asn)" "12" "" "0000791006" "00024072" "30" "5842" "7" "5842" "7" "c.5842+7C>T" "r.(?)" "p.(?)" "" "" "0000802893" "00024072" "50" "344" "0" "344" "0" "c.344T>G" "r.(?)" "p.(Val115Gly)" "" "" "0000802894" "00024072" "30" "449" "0" "449" "0" "c.449A>G" "r.(?)" "p.(Asp150Gly)" "" "" "0000802895" "00024072" "50" "1108" "0" "1108" "0" "c.1108A>G" "r.(?)" "p.(Met370Val)" "" "" "0000802896" "00024072" "50" "1225" "0" "1225" "0" "c.1225G>A" "r.(?)" "p.(Asp409Asn)" "" "" "0000802897" "00024072" "50" "1886" "0" "1886" "0" "c.1886G>A" "r.(?)" "p.(Arg629Gln)" "" "" "0000802898" "00024072" "50" "2041" "0" "2041" "0" "c.2041G>A" "r.(?)" "p.(Gly681Ser)" "" "" "0000802899" "00024072" "50" "2068" "0" "2068" "0" "c.2068T>C" "r.(?)" "p.(Phe690Leu)" "" "" "0000802900" "00024072" "90" "2227" "0" "2227" "0" "c.2227del" "r.(?)" "p.(Ser743Profs*5)" "" "" "0000802901" "00024072" "30" "2266" "-5" "2266" "-5" "c.2266-5C>T" "r.spl?" "p.?" "" "" "0000802902" "00024072" "30" "2266" "-4" "2266" "-4" "c.2266-4G>A" "r.spl?" "p.?" "" "" "0000802903" "00024072" "10" "2889" "0" "2889" "0" "c.2889G>A" "r.(?)" "p.(Pro963=)" "" "" "0000802904" "00024072" "50" "3193" "-20" "3193" "-20" "c.3193-20C>A" "r.(=)" "p.(=)" "" "" "0000802905" "00024072" "50" "3259" "0" "3259" "0" "c.3259A>C" "r.(?)" "p.(Thr1087Pro)" "" "" "0000802906" "00024072" "10" "3321" "0" "3321" "0" "c.3321C>T" "r.(?)" "p.(Ile1107=)" "" "" "0000802907" "00024072" "30" "3722" "0" "3722" "0" "c.3722G>A" "r.(?)" "p.(Arg1241His)" "" "" "0000802908" "00024072" "50" "3938" "0" "3938" "0" "c.3938G>A" "r.(?)" "p.(Arg1313Gln)" "" "" "0000802909" "00024072" "50" "3952" "0" "3952" "0" "c.3952G>A" "r.(?)" "p.(Ala1318Thr)" "" "" "0000802910" "00024072" "50" "4054" "0" "4054" "0" "c.4054C>T" "r.(?)" "p.(Arg1352Cys)" "" "" "0000802911" "00024072" "10" "4153" "0" "4153" "0" "c.4153C>T" "r.(?)" "p.(Leu1385=)" "" "" "0000802912" "00024072" "70" "4456" "1" "4456" "1" "c.4456+1G>A" "r.spl?" "p.?" "" "" "0000802913" "00024072" "50" "4651" "0" "4651" "0" "c.4651G>A" "r.(?)" "p.(Ala1551Thr)" "" "" "0000802914" "00024072" "50" "4706" "0" "4706" "0" "c.4706C>T" "r.(?)" "p.(Ala1569Val)" "" "" "0000802915" "00024072" "50" "4711" "0" "4711" "0" "c.4711G>A" "r.(?)" "p.(Glu1571Lys)" "" "" "0000802916" "00024072" "10" "4743" "0" "4743" "0" "c.4743C>G" "r.(?)" "p.(Pro1581=)" "" "" "0000802917" "00024072" "50" "4744" "0" "4744" "0" "c.4744G>A" "r.(?)" "p.(Glu1582Lys)" "" "" "0000802918" "00024072" "50" "5199" "3" "5199" "3" "c.5199+3A>G" "r.spl?" "p.?" "" "" "0000802919" "00024072" "50" "5221" "0" "5221" "0" "c.5221G>A" "r.(?)" "p.(Glu1741Lys)" "" "" "0000802920" "00024072" "30" "5284" "0" "5284" "0" "c.5284C>T" "r.(?)" "p.(Arg1762Cys)" "" "" "0000802921" "00024072" "50" "5311" "0" "5311" "0" "c.5311C>G" "r.(?)" "p.(Pro1771Ala)" "" "" "0000802922" "00024072" "10" "5418" "0" "5418" "0" "c.5418G>A" "r.(?)" "p.(Ser1806=)" "" "" "0000802923" "00024072" "50" "5690" "0" "5690" "0" "c.5690A>C" "r.(?)" "p.(Glu1897Ala)" "" "" "0000802924" "00024072" "30" "5745" "0" "5745" "0" "c.5745C>T" "r.(?)" "p.(Thr1915=)" "" "" "0000802925" "00024072" "50" "5791" "0" "5791" "0" "c.5791C>T" "r.(?)" "p.(Arg1931Cys)" "" "" "0000802926" "00024072" "50" "6236" "0" "6238" "0" "c.6236_6238dup" "r.(?)" "p.(Glu2079dup)" "" "" "0000802927" "00024072" "30" "6309" "0" "6309" "0" "c.6309C>T" "r.(?)" "p.(Thr2103=)" "" "" "0000802928" "00024072" "50" "6388" "0" "6388" "0" "c.6388G>A" "r.(?)" "p.(Gly2130Ser)" "" "" "0000802929" "00024072" "30" "6594" "0" "6594" "0" "c.6594C>T" "r.(?)" "p.(Gly2198=)" "" "" "0000802930" "00024072" "50" "6716" "0" "6716" "0" "c.6716G>A" "r.(?)" "p.(Arg2239Gln)" "" "" "0000802931" "00024072" "70" "6772" "0" "6772" "0" "c.6772T>C" "r.(?)" "p.(Ser2258Pro)" "" "" "0000802932" "00024072" "50" "7256" "0" "7256" "0" "c.7256C>T" "r.(?)" "p.(Thr2419Met)" "" "" "0000802933" "00024072" "50" "7382" "0" "7382" "0" "c.7382G>A" "r.(?)" "p.(Ser2461Asn)" "" "" "0000802934" "00024072" "10" "7385" "-5" "7385" "-5" "c.7385-5C>T" "r.spl?" "p.?" "" "" "0000802935" "00024072" "50" "7652" "0" "7652" "0" "c.7652A>G" "r.(?)" "p.(Asp2551Gly)" "" "" "0000802936" "00024072" "30" "7854" "0" "7854" "0" "c.7854C>T" "r.(?)" "p.(Ser2618=)" "" "" "0000819215" "00024072" "70" "5278" "0" "5278" "0" "c.5278G>A" "r.(?)" "p.(Gly1760Ser)" "" "" "0000819264" "00024072" "50" "6043" "0" "6043" "0" "c.6043G>C" "r.(?)" "p.(Val2015Leu)" "" "" "0000823963" "00024072" "50" "5363" "0" "5363" "0" "c.5363T>G" "r.(?)" "p.(Val1788Gly)" "32" "" "0000823969" "00024072" "50" "5272" "0" "5272" "0" "c.5272C>T" "r.(?)" "p.(Arg1758Trp)" "31" "" "0000851402" "00024072" "30" "-26" "0" "-9" "0" "c.-26_-9dup" "r.(?)" "p.(=)" "" "" "0000851403" "00024072" "30" "22" "0" "22" "0" "c.22T>C" "r.(?)" "p.(Ser8Pro)" "" "" "0000851404" "00024072" "50" "271" "0" "271" "0" "c.271A>G" "r.(?)" "p.(Asn91Asp)" "" "" "0000851405" "00024072" "50" "367" "0" "367" "0" "c.367G>A" "r.(?)" "p.(Val123Met)" "" "" "0000851406" "00024072" "90" "444" "0" "444" "0" "c.444G>A" "r.(?)" "p.(Trp148*)" "" "" "0000851407" "00024072" "30" "699" "5" "699" "5" "c.699+5A>G" "r.spl?" "p.?" "" "" "0000851408" "00024072" "50" "905" "0" "905" "0" "c.905C>T" "r.(?)" "p.(Thr302Met)" "" "" "0000851409" "00024072" "50" "969" "1" "969" "1" "c.969+1G>A" "r.spl?" "p.?" "" "" "0000851410" "00024072" "30" "1026" "0" "1026" "0" "c.1026C>T" "r.(?)" "p.(Pro342=)" "" "" "0000851411" "00024072" "50" "1328" "0" "1328" "0" "c.1328C>T" "r.(?)" "p.(Ala443Val)" "" "" "0000851412" "00024072" "30" "1374" "0" "1374" "0" "c.1374C>T" "r.(?)" "p.(Pro458=)" "" "" "0000851413" "00024072" "30" "1536" "0" "1536" "0" "c.1536G>A" "r.(?)" "p.(Thr512=)" "" "" "0000851414" "00024072" "10" "1676" "9" "1676" "9" "c.1676+9C>T" "r.(=)" "p.(=)" "" "" "0000851415" "00024072" "30" "1813" "6" "1813" "6" "c.1813+6T>G" "r.(=)" "p.(=)" "" "" "0000851416" "00024072" "50" "1849" "0" "1849" "0" "c.1849G>A" "r.(?)" "p.(Glu617Lys)" "" "" "0000851417" "00024072" "30" "1869" "0" "1869" "0" "c.1869T>C" "r.(?)" "p.(Asp623=)" "" "" "0000851418" "00024072" "50" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Pro653Ser)" "" "" "0000851419" "00024072" "30" "2125" "0" "2125" "0" "c.2125G>A" "r.(?)" "p.(Ala709Thr)" "" "" "0000851420" "00024072" "30" "2164" "0" "2164" "0" "c.2164G>A" "r.(?)" "p.(Gly722Ser)" "" "" "0000851421" "00024072" "10" "2568" "0" "2568" "0" "c.2568C>T" "r.(?)" "p.(Pro856=)" "" "" "0000851422" "00024072" "50" "2642" "-3" "2642" "-3" "c.2642-3C>T" "r.spl?" "p.?" "" "" "0000851423" "00024072" "30" "3114" "0" "3114" "0" "c.3114G>T" "r.(?)" "p.(Val1038=)" "" "" "0000851424" "00024072" "30" "3242" "0" "3242" "0" "c.3242C>T" "r.(?)" "p.(Ala1081Val)" "" "" "0000851425" "00024072" "50" "3247" "0" "3247" "0" "c.3247T>A" "r.(?)" "p.(Phe1083Ile)" "" "" "0000851426" "00024072" "30" "3501" "0" "3501" "0" "c.3501C>T" "r.(?)" "p.(Arg1167=)" "" "" "0000851427" "00024072" "50" "3518" "0" "3518" "0" "c.3518C>T" "r.(?)" "p.(Ala1173Val)" "" "" "0000851428" "00024072" "50" "3847" "0" "3847" "0" "c.3847A>G" "r.(?)" "p.(Thr1283Ala)" "" "" "0000851429" "00024072" "50" "3958" "0" "3958" "0" "c.3958G>A" "r.(?)" "p.(Glu1320Lys)" "" "" "0000851430" "00024072" "50" "4159" "0" "4159" "0" "c.4159A>C" "r.(?)" "p.(Ile1387Leu)" "" "" "0000851431" "00024072" "50" "4367" "0" "4367" "0" "c.4367G>C" "r.(?)" "p.(Gly1456Ala)" "" "" "0000851432" "00024072" "30" "4398" "0" "4398" "0" "c.4398A>C" "r.(?)" "p.(Thr1466=)" "" "" "0000851433" "00024072" "30" "4728" "0" "4728" "0" "c.4728C>T" "r.(?)" "p.(Val1576=)" "" "" "0000851434" "00024072" "30" "4914" "0" "4914" "0" "c.4914G>A" "r.(?)" "p.(Lys1638=)" "" "" "0000851435" "00024072" "30" "5273" "0" "5273" "0" "c.5273G>A" "r.(?)" "p.(Arg1758Gln)" "" "" "0000851436" "00024072" "30" "5281" "0" "5281" "0" "c.5281G>A" "r.(?)" "p.(Ala1761Thr)" "" "" "0000851437" "00024072" "50" "5312" "0" "5312" "0" "c.5312C>A" "r.(?)" "p.(Pro1771Gln)" "" "" "0000851438" "00024072" "30" "5427" "0" "5427" "0" "c.5427G>C" "r.(?)" "p.(Thr1809=)" "" "" "0000851439" "00024072" "50" "5468" "0" "5468" "0" "c.5468C>T" "r.(?)" "p.(Thr1823Met)" "" "" "0000851440" "00024072" "50" "5954" "0" "5954" "0" "c.5954C>T" "r.(?)" "p.(Ser1985Leu)" "" "" "0000851441" "00024072" "30" "6015" "0" "6015" "0" "c.6015C>T" "r.(?)" "p.(Phe2005=)" "" "" "0000851442" "00024072" "30" "6120" "0" "6120" "0" "c.6120C>T" "r.(?)" "p.(Asp2040=)" "" "" "0000851443" "00024072" "30" "6209" "-3" "6209" "-3" "c.6209-3C>G" "r.spl?" "p.?" "" "" "0000851444" "00024072" "30" "6279" "0" "6279" "0" "c.6279C>T" "r.(?)" "p.(Asp2093=)" "" "" "0000851445" "00024072" "50" "6355" "0" "6355" "0" "c.6355G>A" "r.(?)" "p.(Val2119Met)" "" "" "0000851446" "00024072" "50" "6390" "0" "6390" "0" "c.6390C>T" "r.(?)" "p.(Gly2130=)" "" "" "0000851447" "00024072" "30" "6480" "0" "6480" "0" "c.6480C>T" "r.(?)" "p.(Ile2160=)" "" "" "0000851448" "00024072" "50" "6604" "0" "6604" "0" "c.6604A>C" "r.(?)" "p.(Lys2202Gln)" "" "" "0000851449" "00024072" "50" "6607" "0" "6607" "0" "c.6607C>T" "r.(?)" "p.(Arg2203Cys)" "" "" "0000851450" "00024072" "10" "6609" "0" "6609" "0" "c.6609C>T" "r.(?)" "p.(Arg2203=)" "" "" "0000851451" "00024072" "50" "6643" "0" "6643" "0" "c.6643G>C" "r.(?)" "p.(Gly2215Arg)" "" "" "0000851452" "00024072" "30" "6714" "0" "6714" "0" "c.6714C>T" "r.(?)" "p.(Thr2238=)" "" "" "0000851453" "00024072" "30" "6771" "0" "6771" "0" "c.6771A>G" "r.(?)" "p.(Pro2257=)" "" "" "0000851454" "00024072" "10" "6789" "0" "6789" "0" "c.6789C>T" "r.(?)" "p.(Ala2263=)" "" "" "0000851455" "00024072" "50" "6877" "0" "6877" "0" "c.6877C>T" "r.(?)" "p.(Arg2293Cys)" "" "" "0000851456" "00024072" "50" "6958" "0" "6958" "0" "c.6958G>A" "r.(?)" "p.(Gly2320Arg)" "" "" "0000851457" "00024072" "10" "6991" "0" "6991" "0" "c.6991G>A" "r.(?)" "p.(Val2331Met)" "" "" "0000851458" "00024072" "10" "7091" "0" "7091" "0" "c.7091G>A" "r.(?)" "p.(Arg2364His)" "" "" "0000851459" "00024072" "50" "7108" "0" "7108" "0" "c.7108G>A" "r.(?)" "p.(Gly2370Ser)" "" "" "0000851460" "00024072" "30" "7136" "-6" "7136" "-6" "c.7136-6C>A" "r.(=)" "p.(=)" "" "" "0000851461" "00024072" "30" "7337" "0" "7337" "0" "c.7337C>T" "r.(?)" "p.(Thr2446Ile)" "" "" "0000851462" "00024072" "30" "7605" "0" "7605" "0" "c.7605G>A" "r.(?)" "p.(Ser2535=)" "" "" "0000851463" "00024072" "30" "7781" "-4" "7781" "-4" "c.7781-4T>G" "r.spl?" "p.?" "" "" "0000851464" "00024072" "30" "7862" "0" "7862" "0" "c.7862G>A" "r.(?)" "p.(Arg2621Gln)" "" "" "0000851465" "00024072" "30" "7990" "9" "7990" "9" "c.7990+9C>T" "r.(=)" "p.(=)" "" "" "0000851466" "00024072" "30" "8003" "0" "8003" "0" "c.8003T>C" "r.(?)" "p.(Met2668Thr)" "" "" "0000860617" "00024072" "10" "597" "0" "597" "0" "c.597C>T" "r.(?)" "p.(Ala199=)" "" "" "0000860618" "00024072" "10" "601" "19" "601" "19" "c.601+19A>G" "r.(=)" "p.(=)" "" "" "0000860619" "00024072" "10" "837" "0" "837" "0" "c.837C>T" "r.(?)" "p.(Ile279=)" "" "" "0000860620" "00024072" "50" "1604" "0" "1604" "0" "c.1604G>T" "r.(?)" "p.(Cys535Phe)" "" "" "0000860621" "00024072" "30" "1645" "0" "1645" "0" "c.1645A>G" "r.(?)" "p.(Ile549Val)" "" "" "0000860622" "00024072" "50" "2068" "0" "2068" "0" "c.2068T>C" "r.(?)" "p.(Phe690Leu)" "" "" "0000860623" "00024072" "50" "2320" "0" "2320" "0" "c.2320G>T" "r.(?)" "p.(Val774Leu)" "" "" "0000860624" "00024072" "50" "2491" "0" "2491" "0" "c.2491G>A" "r.(?)" "p.(Val831Ile)" "" "" "0000860625" "00024072" "10" "3045" "0" "3045" "0" "c.3045G>A" "r.(?)" "p.(Leu1015=)" "" "" "0000860626" "00024072" "30" "3624" "0" "3624" "0" "c.3624G>A" "r.(?)" "p.(Ala1208=)" "" "" "0000860627" "00024072" "10" "4456" "13" "4456" "13" "c.4456+13C>T" "r.(=)" "p.(=)" "" "" "0000860628" "00024072" "30" "4650" "0" "4650" "0" "c.4650C>T" "r.(?)" "p.(Asn1550=)" "" "" "0000860629" "00024072" "50" "4780" "0" "4780" "0" "c.4780G>A" "r.(?)" "p.(Gly1594Arg)" "" "" "0000860630" "00024072" "30" "4947" "0" "4947" "0" "c.4947C>T" "r.(?)" "p.(Gly1649=)" "" "" "0000860631" "00024072" "30" "5124" "0" "5124" "0" "c.5124G>A" "r.(?)" "p.(Ala1708=)" "" "" "0000860632" "00024072" "30" "5281" "0" "5281" "0" "c.5281G>A" "r.(?)" "p.(Ala1761Thr)" "" "" "0000860633" "00024072" "30" "5685" "0" "5685" "0" "c.5685C>T" "r.(?)" "p.(Ala1895=)" "" "" "0000860634" "00024072" "30" "5766" "0" "5766" "0" "c.5766G>A" "r.(?)" "p.(Ala1922=)" "" "" "0000860635" "00024072" "50" "5791" "0" "5791" "0" "c.5791C>T" "r.(?)" "p.(Arg1931Cys)" "" "" "0000860636" "00024072" "50" "5954" "0" "5954" "0" "c.5954C>T" "r.(?)" "p.(Ser1985Leu)" "" "" "0000860637" "00024072" "50" "6715" "0" "6715" "0" "c.6715C>T" "r.(?)" "p.(Arg2239Trp)" "" "" "0000860638" "00024072" "30" "6720" "0" "6720" "0" "c.6720G>A" "r.(?)" "p.(Gln2240=)" "" "" "0000860639" "00024072" "10" "6998" "-5" "6998" "-5" "c.6998-5C>T" "r.spl?" "p.?" "" "" "0000860640" "00024072" "50" "7334" "0" "7334" "0" "c.7334A>G" "r.(?)" "p.(His2445Arg)" "" "" "0000860641" "00024072" "30" "7458" "0" "7458" "0" "c.7458C>T" "r.(?)" "p.(His2486=)" "" "" "0000860642" "00024072" "30" "7991" "-19" "7991" "-19" "c.7991-19C>T" "r.(=)" "p.(=)" "" "" "0000860643" "00024072" "10" "8003" "0" "8003" "0" "c.8003T>C" "r.(?)" "p.(Met2668Thr)" "" "" "0000860644" "00024072" "30" "8118" "0" "8118" "0" "c.8118C>T" "r.(?)" "p.(Leu2706=)" "" "" "0000860645" "00024072" "30" "8121" "0" "8121" "0" "c.8121T>C" "r.(?)" "p.(Ile2707=)" "" "" "0000878833" "00024072" "77" "6763" "0" "6764" "0" "c.6763_6764dup" "r.(?)" "p.(Ser2256Profs*169)" "41" "" "0000878863" "00024072" "70" "2553" "0" "2553" "0" "c.2553G>T" "r.(?)" "p.(Glu851Asp)" "17" "" "0000878871" "00024072" "70" "2953" "0" "2953" "0" "c.2953G>A" "r.(?)" "p.(Ala985Thr)" "20" "" "0000878881" "00024072" "70" "2553" "0" "2553" "0" "c.2553G>T" "r.(?)" "p.(Glu851Asp)" "17" "" "0000878906" "00024072" "70" "6608" "0" "6608" "0" "c.6608G>A" "r.(?)" "p.(Arg2203His)" "40" "" "0000887581" "00024072" "50" "350" "0" "350" "0" "c.350T>A" "r.(?)" "p.(Ile117Lys)" "" "" "0000887582" "00024072" "10" "480" "0" "480" "0" "c.480G>A" "r.(?)" "p.(Thr160=)" "" "" "0000887583" "00024072" "50" "490" "0" "490" "0" "c.490C>T" "r.(?)" "p.(Arg164Trp)" "" "" "0000887584" "00024072" "50" "569" "0" "569" "0" "c.569C>T" "r.(?)" "p.(Ala190Val)" "" "" "0000887585" "00024072" "50" "850" "4" "850" "4" "c.850+4T>G" "r.spl?" "p.?" "" "" "0000887586" "00024072" "10" "970" "-11" "970" "-11" "c.970-11C>T" "r.(=)" "p.(=)" "" "" "0000887587" "00024072" "10" "1047" "21" "1047" "21" "c.1047+21dup" "r.(=)" "p.(=)" "" "" "0000887588" "00024072" "30" "1108" "0" "1108" "0" "c.1108A>G" "r.(?)" "p.(Met370Val)" "" "" "0000887589" "00024072" "30" "1142" "0" "1142" "0" "c.1142G>A" "r.(?)" "p.(Arg381His)" "" "" "0000887590" "00024072" "30" "1143" "0" "1143" "0" "c.1143T>G" "r.(?)" "p.(Arg381=)" "" "" "0000887591" "00024072" "50" "1205" "0" "1205" "0" "c.1205C>T" "r.(?)" "p.(Thr402Ile)" "" "" "0000887592" "00024072" "10" "1211" "-15" "1211" "-15" "c.1211-15C>T" "r.(=)" "p.(=)" "" "" "0000887593" "00024072" "10" "1374" "0" "1374" "0" "c.1374C>T" "r.(?)" "p.(Pro458=)" "" "" "0000887594" "00024072" "90" "1466" "0" "1472" "0" "c.1466_1472del" "r.(?)" "p.(Val489GlyfsTer33)" "" "" "0000887595" "00024072" "10" "1512" "0" "1512" "0" "c.1512C>T" "r.(?)" "p.(Ala504=)" "" "" "0000887596" "00024072" "30" "1600" "0" "1600" "0" "c.1600G>A" "r.(?)" "p.(Glu534Lys)" "" "" "0000887597" "00024072" "30" "1605" "0" "1605" "0" "c.1605C>T" "r.(?)" "p.(Cys535=)" "" "" "0000887598" "00024072" "50" "1605" "0" "1605" "0" "c.1605C>T" "r.(?)" "p.(Cys535=)" "" "" "0000887599" "00024072" "70" "1690" "0" "1690" "0" "c.1690C>T" "r.(?)" "p.(Gln564Ter)" "" "" "0000887600" "00024072" "50" "1814" "-13" "1814" "-13" "c.1814-13C>A" "r.(=)" "p.(=)" "" "" "0000887601" "00024072" "50" "2007" "2" "2007" "2" "c.2007+2T>G" "r.spl?" "p.?" "" "" "0000887602" "00024072" "30" "2068" "0" "2068" "0" "c.2068T>C" "r.(?)" "p.(Phe690Leu)" "" "" "0000887603" "00024072" "30" "2125" "0" "2125" "0" "c.2125G>A" "r.(?)" "p.(Ala709Thr)" "" "" "0000887604" "00024072" "10" "2199" "0" "2199" "0" "c.2199C>G" "r.(?)" "p.(Thr733=)" "" "" "0000887605" "00024072" "50" "2248" "0" "2248" "0" "c.2248C>G" "r.(?)" "p.(Pro750Ala)" "" "" "0000887606" "00024072" "50" "2254" "0" "2254" "0" "c.2254A>G" "r.(?)" "p.(Ser752Gly)" "" "" "0000887607" "00024072" "90" "2265" "5" "2265" "5" "c.2265+5G>A" "r.spl?" "p.?" "" "" "0000887608" "00024072" "50" "2323" "0" "2325" "0" "c.2323_2325del" "r.(?)" "p.(Glu775del)" "" "" "0000887609" "00024072" "90" "2416" "0" "2417" "0" "c.2416_2417dup" "r.(?)" "p.(Gly808Glnfs*71)" "" "" "0000887610" "00024072" "50" "2424" "0" "2424" "0" "c.2424C>T" "r.(?)" "p.(Gly808=)" "" "" "0000887611" "00024072" "50" "2627" "0" "2627" "0" "c.2627G>T" "r.(?)" "p.(Gly876Val)" "" "" "0000887612" "00024072" "50" "2635" "0" "2635" "0" "c.2635C>T" "r.(?)" "p.(Arg879Cys)" "" "" "0000887613" "00024072" "30" "2812" "-4" "2812" "-4" "c.2812-4A>T" "r.spl?" "p.?" "" "" "0000887614" "00024072" "50" "2812" "-1" "2812" "-1" "c.2812-1G>C" "r.spl?" "p.?" "" "" "0000887615" "00024072" "50" "2842" "0" "2842" "0" "c.2842G>A" "r.(?)" "p.(Gly948Arg)" "" "" "0000887616" "00024072" "50" "2938" "0" "2938" "0" "c.2938G>C" "r.(?)" "p.(Val980Leu)" "" "" "0000887617" "00024072" "90" "2971" "0" "2971" "0" "c.2971C>T" "r.(?)" "p.(Arg991*)" "" "" "0000887618" "00024072" "50" "2992" "0" "2992" "0" "c.2992C>G" "r.(?)" "p.(Gln998Glu)" "" "" "0000887619" "00024072" "30" "3000" "0" "3000" "0" "c.3000T>C" "r.(?)" "p.(Asp1000=)" "" "" "0000887620" "00024072" "50" "3139" "0" "3139" "0" "c.3139G>C" "r.(?)" "p.(Val1047Leu)" "" "" "0000887621" "00024072" "50" "3256" "0" "3256" "0" "c.3256G>A" "r.(?)" "p.(Asp1086Asn)" "" "" "0000887622" "00024072" "50" "3660" "0" "3660" "0" "c.3660C>G" "r.(?)" "p.(Phe1220Leu)" "" "" "0000887623" "00024072" "50" "3680" "0" "3680" "0" "c.3680C>T" "r.(?)" "p.(Thr1227Ile)" "" "" "0000887624" "00024072" "50" "3790" "5" "3790" "5" "c.3790+5G>A" "r.spl?" "p.?" "" "" "0000887625" "00024072" "30" "3790" "5" "3790" "5" "c.3790+5G>A" "r.spl?" "p.?" "" "" "0000887626" "00024072" "10" "3791" "-14" "3791" "-14" "c.3791-14C>T" "r.(=)" "p.(=)" "" "" "0000887627" "00024072" "90" "3838" "0" "3838" "0" "c.3838dup" "r.(?)" "p.(Leu1280Profs*52)" "" "" "0000887628" "00024072" "50" "3938" "0" "3938" "0" "c.3938G>A" "r.(?)" "p.(Arg1313Gln)" "" "" "0000887629" "00024072" "50" "4055" "0" "4055" "0" "c.4055G>A" "r.(?)" "p.(Arg1352His)" "" "" "0000887630" "00024072" "30" "4127" "9" "4127" "9" "c.4127+9C>T" "r.(=)" "p.(=)" "" "" "0000887631" "00024072" "10" "4269" "0" "4269" "0" "c.4269C>T" "r.(?)" "p.(Phe1423=)" "" "" "0000887632" "00024072" "30" "4302" "0" "4302" "0" "c.4302C>T" "r.(?)" "p.(Arg1434=)" "" "" "0000887633" "00024072" "50" "4334" "0" "4334" "0" "c.4334A>G" "r.(?)" "p.(Lys1445Arg)" "" "" "0000887634" "00024072" "90" "4387" "0" "4387" "0" "c.4387C>T" "r.(?)" "p.(Gln1463Ter)" "" "" "0000887635" "00024072" "30" "4421" "0" "4421" "0" "c.4421G>A" "r.(?)" "p.(Arg1474Gln)" "" "" "0000887636" "00024072" "50" "4479" "0" "4479" "0" "c.4479G>A" "r.(?)" "p.(Val1493=)" "" "" "0000887637" "00024072" "50" "4711" "0" "4711" "0" "c.4711G>A" "r.(?)" "p.(Glu1571Lys)" "" "" "0000887638" "00024072" "10" "4738" "-17" "4738" "-17" "c.4738-17C>T" "r.(=)" "p.(=)" "" "" "0000887639" "00024072" "50" "5018" "0" "5018" "0" "c.5018C>T" "r.(?)" "p.(Ala1673Val)" "" "" "0000887640" "00024072" "50" "5263" "0" "5263" "0" "c.5263G>A" "r.(?)" "p.(Ala1755Thr)" "" "" "0000887641" "00024072" "50" "5284" "0" "5284" "0" "c.5284C>T" "r.(?)" "p.(Arg1762Cys)" "" "" "0000887642" "00024072" "30" "5298" "8" "5298" "8" "c.5298+8G>A" "r.(=)" "p.(=)" "" "" "0000887643" "00024072" "30" "5298" "13" "5298" "13" "c.5298+13C>G" "r.(=)" "p.(=)" "" "" "0000887644" "00024072" "30" "5311" "0" "5311" "0" "c.5311C>G" "r.(?)" "p.(Pro1771Ala)" "" "" "0000887645" "00024072" "50" "5903" "0" "5903" "0" "c.5903A>C" "r.(?)" "p.(Lys1968Thr)" "" "" "0000887646" "00024072" "50" "5962" "0" "5962" "0" "c.5962G>A" "r.(?)" "p.(Glu1988Lys)" "" "" "0000887647" "00024072" "50" "5995" "0" "5995" "0" "c.5995C>T" "r.(?)" "p.(Arg1999Trp)" "" "" "0000887648" "00024072" "50" "6094" "0" "6094" "0" "c.6094C>G" "r.(?)" "p.(Leu2032Val)" "" "" "0000887649" "00024072" "50" "6418" "0" "6418" "0" "c.6418C>T" "r.(?)" "p.(Arg2140Trp)" "" "" "0000887650" "00024072" "50" "6538" "0" "6538" "0" "c.6538C>T" "r.(?)" "p.(Arg2180Cys)" "" "" "0000887651" "00024072" "50" "6622" "0" "6622" "0" "c.6622G>A" "r.(?)" "p.(Glu2208Lys)" "" "" "0000887652" "00024072" "50" "6716" "0" "6716" "0" "c.6716G>A" "r.(?)" "p.(Arg2239Gln)" "" "" "0000887653" "00024072" "50" "6817" "0" "6817" "0" "c.6817G>A" "r.(?)" "p.(Ala2273Thr)" "" "" "0000887654" "00024072" "50" "6855" "0" "6855" "0" "c.6855C>G" "r.(?)" "p.(Pro2285=)" "" "" "0000887655" "00024072" "50" "6877" "0" "6877" "0" "c.6877C>T" "r.(?)" "p.(Arg2293Cys)" "" "" "0000887656" "00024072" "50" "7000" "0" "7000" "0" "c.7000G>A" "r.(?)" "p.(Glu2334Lys)" "" "" "0000887657" "00024072" "30" "7185" "0" "7185" "0" "c.7185C>T" "r.(?)" "p.(Ser2395=)" "" "" "0000887658" "00024072" "50" "7289" "0" "7289" "0" "c.7289C>T" "r.(?)" "p.(Ala2430Val)" "" "" "0000887659" "00024072" "90" "7316" "0" "7317" "0" "c.7316_7317del" "r.(?)" "p.(Val2439Aspfs*2)" "" "" "0000887660" "00024072" "90" "7316" "0" "7317" "0" "c.7316_7317del" "r.(?)" "p.(Val2439Aspfs*2)" "" "" "0000887661" "00024072" "10" "7385" "-15" "7385" "-15" "c.7385-15A>C" "r.(=)" "p.(=)" "" "" "0000887662" "00024072" "30" "7605" "0" "7605" "0" "c.7605G>A" "r.(?)" "p.(Ser2535=)" "" "" "0000887663" "00024072" "30" "7614" "0" "7614" "0" "c.7614G>T" "r.(?)" "p.(Leu2538Phe)" "" "" "0000887665" "00024072" "50" "7948" "0" "7948" "0" "c.7948G>A" "r.(?)" "p.(Val2650Met)" "" "" "0000887666" "00024072" "50" "7959" "0" "7961" "0" "c.7959_7961del" "r.(?)" "p.(Lys2653del)" "" "" "0000887667" "00024072" "30" "7962" "0" "7962" "0" "c.7962C>T" "r.(?)" "p.(Asn2654=)" "" "" "0000887668" "00024072" "30" "7990" "27" "7990" "27" "c.7990+27C>T" "r.(=)" "p.(=)" "" "" "0000912638" "00024072" "30" "352" "10" "352" "10" "c.352+10G>A" "r.(=)" "p.(=)" "" "" "0000912639" "00024072" "50" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Ala280Thr)" "" "" "0000912640" "00024072" "50" "943" "0" "943" "0" "c.943G>A" "r.(?)" "p.(Glu315Lys)" "" "" "0000912641" "00024072" "10" "1098" "0" "1098" "0" "c.1098G>C" "r.(?)" "p.(Val366=)" "" "" "0000912642" "00024072" "50" "1309" "0" "1309" "0" "c.1309C>T" "r.(?)" "p.(Arg437Cys)" "" "" "0000912643" "00024072" "50" "1435" "0" "1435" "0" "c.1435G>A" "r.(?)" "p.(Ala479Thr)" "" "" "0000912644" "00024072" "30" "1770" "0" "1770" "0" "c.1770C>T" "r.(?)" "p.(Ala590=)" "" "" "0000912645" "00024072" "30" "1980" "0" "1980" "0" "c.1980C>T" "r.(?)" "p.(Pro660=)" "" "" "0000912646" "00024072" "50" "2224" "0" "2224" "0" "c.2224A>G" "r.(?)" "p.(Ile742Val)" "" "" "0000912647" "00024072" "50" "2641" "0" "2641" "0" "c.2641G>C" "r.(?)" "p.(Gly881Arg)" "" "" "0000912648" "00024072" "90" "2804" "0" "2805" "0" "c.2804_2805del" "r.(?)" "p.(Val935Alafs*40)" "" "" "0000912649" "00024072" "50" "2843" "0" "2843" "0" "c.2843G>A" "r.(?)" "p.(Gly948Glu)" "" "" "0000912650" "00024072" "90" "2929" "2" "2929" "2" "c.2929+2T>C" "r.spl?" "p.?" "" "" "0000912651" "00024072" "50" "3160" "0" "3160" "0" "c.3160G>A" "r.(?)" "p.(Val1054Met)" "" "" "0000912652" "00024072" "50" "3382" "0" "3382" "0" "c.3382G>A" "r.(?)" "p.(Glu1128Lys)" "" "" "0000912653" "00024072" "10" "3552" "0" "3552" "0" "c.3552C>G" "r.(?)" "p.(Gly1184=)" "" "" "0000912654" "00024072" "30" "3798" "0" "3798" "0" "c.3798G>T" "r.(?)" "p.(Leu1266=)" "" "" "0000912655" "00024072" "50" "3887" "0" "3887" "0" "c.3887C>T" "r.(?)" "p.(Ser1296Leu)" "" "" "0000912656" "00024072" "10" "3964" "9" "3964" "9" "c.3964+9C>T" "r.(=)" "p.(=)" "" "" "0000912657" "00024072" "50" "4763" "0" "4763" "0" "c.4763C>G" "r.(?)" "p.(Ala1588Gly)" "" "" "0000912658" "00024072" "30" "5311" "0" "5311" "0" "c.5311C>G" "r.(?)" "p.(Pro1771Ala)" "" "" "0000912659" "00024072" "50" "5451" "0" "5453" "0" "c.5451_5453del" "r.(?)" "p.(Asn1817del)" "" "" "0000912660" "00024072" "30" "6005" "-11" "6005" "-11" "c.6005-11A>T" "r.(=)" "p.(=)" "" "" "0000912661" "00024072" "70" "6485" "-2" "6485" "-2" "c.6485-2A>T" "r.spl?" "p.?" "" "" "0000912662" "00024072" "50" "6716" "0" "6716" "0" "c.6716G>T" "r.(?)" "p.(Arg2239Leu)" "" "" "0000912663" "00024072" "30" "7091" "0" "7091" "0" "c.7091G>A" "r.(?)" "p.(Arg2364His)" "" "" "0000912664" "00024072" "50" "7214" "0" "7214" "0" "c.7214C>T" "r.(?)" "p.(Ser2405Leu)" "" "" "0000912665" "00024072" "50" "7807" "0" "7807" "0" "c.7807C>A" "r.(?)" "p.(Leu2603Ile)" "" "" "0000917132" "00024072" "70" "367" "0" "367" "0" "c.367G>A" "r.(?)" "p.(Val123Met)" "" "" "0000917158" "00024072" "50" "7952" "0" "7952" "0" "c.7952G>T" "r.(?)" "p.(Gly2651Val)" "" "" "0000917161" "00024072" "50" "5201" "0" "5201" "0" "c.5201C>T" "r.(?)" "p.(Ala1734Val)" "" "" "0000917162" "00024072" "50" "4480" "0" "4480" "0" "c.4480C>T" "r.(?)" "p.(Arg1494Trp)" "" "" "0000924627" "00024072" "50" "111" "0" "111" "0" "c.111C>G" "r.(?)" "p.(Ile37Met)" "" "" "0000924628" "00024072" "30" "699" "20" "699" "20" "c.699+20A>T" "r.(=)" "p.(=)" "" "" "0000924629" "00024072" "30" "851" "-4" "851" "-4" "c.851-4G>C" "r.spl?" "p.?" "" "" "0000924630" "00024072" "50" "969" "1" "969" "1" "c.969+1G>A" "r.spl?" "p.?" "" "" "0000924631" "00024072" "10" "1770" "0" "1770" "0" "c.1770C>T" "r.(?)" "p.(Ala590=)" "" "" "0000924632" "00024072" "50" "1822" "0" "1822" "0" "c.1822A>G" "r.(?)" "p.(Ile608Val)" "" "" "0000924633" "00024072" "50" "2194" "0" "2194" "0" "c.2194C>T" "r.(?)" "p.(Pro732Ser)" "" "" "0000924634" "00024072" "50" "2264" "0" "2264" "0" "c.2264G>A" "r.(?)" "p.(Arg755Gln)" "" "" "0000924635" "00024072" "10" "2391" "0" "2391" "0" "c.2391C>A" "r.(?)" "p.(Gly797=)" "" "" "0000924636" "00024072" "50" "2518" "0" "2518" "0" "c.2518C>T" "r.(?)" "p.(Arg840Cys)" "" "" "0000924637" "00024072" "50" "2762" "0" "2762" "0" "c.2762T>C" "r.(?)" "p.(Ile921Thr)" "" "" "0000924638" "00024072" "50" "2983" "0" "2983" "0" "c.2983G>A" "r.(?)" "p.(Gly995Ser)" "" "" "0000924639" "00024072" "50" "3145" "0" "3145" "0" "c.3145G>T" "r.(?)" "p.(Gly1049Cys)" "" "" "0000924640" "00024072" "50" "3146" "0" "3146" "0" "c.3146G>T" "r.(?)" "p.(Gly1049Val)" "" "" "0000924641" "00024072" "10" "3153" "0" "3153" "0" "c.3153G>A" "r.(?)" "p.(Pro1051=)" "" "" "0000924642" "00024072" "50" "3268" "0" "3268" "0" "c.3268G>T" "r.(?)" "p.(Ala1090Ser)" "" "" "0000924643" "00024072" "50" "3476" "0" "3476" "0" "c.3476G>A" "r.(?)" "p.(Arg1159Gln)" "" "" "0000924644" "00024072" "50" "3617" "0" "3617" "0" "c.3617A>G" "r.(?)" "p.(Asn1206Ser)" "" "" "0000924645" "00024072" "10" "3765" "0" "3765" "0" "c.3765C>A" "r.(?)" "p.(Val1255=)" "" "" "0000924646" "00024072" "50" "4590" "0" "4590" "0" "c.4590G>T" "r.(?)" "p.(Lys1530Asn)" "" "" "0000924647" "00024072" "50" "4790" "0" "4790" "0" "c.4790C>T" "r.(?)" "p.(Thr1597Met)" "" "" "0000924648" "00024072" "50" "4880" "0" "4880" "0" "c.4880G>T" "r.(?)" "p.(Arg1627Leu)" "" "" "0000924649" "00024072" "10" "5200" "-18" "5200" "-18" "c.5200-18C>T" "r.(=)" "p.(=)" "" "" "0000924650" "00024072" "50" "5579" "0" "5579" "0" "c.5579G>A" "r.(?)" "p.(Arg1860His)" "" "" "0000924651" "00024072" "30" "5668" "19" "5668" "19" "c.5668+19G>A" "r.(=)" "p.(=)" "" "" "0000924652" "00024072" "70" "6889" "0" "6889" "0" "c.6889G>A" "r.(?)" "p.(Val2297Met)" "" "" "0000924653" "00024072" "10" "7135" "7" "7135" "7" "c.7135+7G>A" "r.(=)" "p.(=)" "" "" "0000924654" "00024072" "50" "7226" "0" "7226" "0" "c.7226G>A" "r.(?)" "p.(Arg2409His)" "" "" "0000924655" "00024072" "50" "7229" "0" "7229" "0" "c.7229G>A" "r.(?)" "p.(Arg2410His)" "" "" "0000924656" "00024072" "50" "7450" "0" "7450" "0" "c.7450G>A" "r.(?)" "p.(Gly2484Ser)" "" "" "0000924657" "00024072" "10" "7875" "0" "7875" "0" "c.7875C>T" "r.(?)" "p.(Tyr2625=)" "" "" "0000924658" "00024072" "10" "7990" "10" "7990" "10" "c.7990+10G>A" "r.(=)" "p.(=)" "" "" "0000929278" "00024072" "50" "479" "0" "479" "0" "c.479C>T" "r.(?)" "p.(Thr160Met)" "" "" "0000929279" "00024072" "30" "602" "-11" "602" "-11" "c.602-11C>T" "r.(=)" "p.(=)" "" "" "0000929280" "00024072" "50" "1433" "0" "1433" "0" "c.1433G>A" "r.(?)" "p.(Arg478His)" "" "" "0000929281" "00024072" "30" "1698" "0" "1698" "0" "c.1698C>T" "r.(?)" "p.(Ser566=)" "" "" "0000929282" "00024072" "90" "1730" "0" "1730" "0" "c.1730G>A" "r.(?)" "p.(Trp577*)" "" "" "0000929283" "00024072" "30" "2164" "0" "2164" "0" "c.2164G>A" "r.(?)" "p.(Gly722Ser)" "" "" "0000929284" "00024072" "30" "2507" "0" "2507" "0" "c.2507C>A" "r.(?)" "p.(Pro836Gln)" "" "" "0000929285" "00024072" "50" "2602" "0" "2602" "0" "c.2602A>G" "r.(?)" "p.(Ser868Gly)" "" "" "0000929286" "00024072" "30" "3372" "0" "3372" "0" "c.3372G>A" "r.(?)" "p.(Thr1124=)" "" "" "0000929287" "00024072" "50" "3790" "5" "3790" "5" "c.3790+5G>A" "r.spl?" "p.?" "" "" "0000929288" "00024072" "10" "3852" "0" "3852" "0" "c.3852C>T" "r.(?)" "p.(Gly1284=)" "" "" "0000929289" "00024072" "50" "4133" "0" "4133" "0" "c.4133C>T" "r.(?)" "p.(Ala1378Val)" "" "" "0000929290" "00024072" "10" "4161" "0" "4161" "0" "c.4161C>T" "r.(?)" "p.(Ile1387=)" "" "" "0000929291" "00024072" "10" "4289" "-4" "4289" "-4" "c.4289-4A>C" "r.spl?" "p.?" "" "" "0000929292" "00024072" "50" "4301" "0" "4301" "0" "c.4301G>A" "r.(?)" "p.(Arg1434His)" "" "" "0000929293" "00024072" "50" "4897" "0" "4897" "0" "c.4897A>G" "r.(?)" "p.(Thr1633Ala)" "" "" "0000929294" "00024072" "30" "5426" "0" "5426" "0" "c.5426C>T" "r.(?)" "p.(Thr1809Met)" "" "" "0000929295" "00024072" "30" "5540" "-20" "5540" "-20" "c.5540-20C>T" "r.(=)" "p.(=)" "" "" "0000929296" "00024072" "50" "6526" "0" "6526" "0" "c.6526C>T" "r.(?)" "p.(Arg2176Cys)" "" "" "0000929297" "00024072" "30" "6987" "0" "6987" "0" "c.6987C>T" "r.(?)" "p.(=)" "" "" "0000936137" "00024072" "70" "367" "0" "367" "0" "c.367G>A" "r.(?)" "p.(Val123Met)" "" "" "0000936163" "00024072" "50" "8051" "0" "8051" "0" "c.8051T>G" "r.(?)" "p.(Val2684Gly)" "" "" "0000936166" "00024072" "50" "5300" "0" "5300" "0" "c.5300C>T" "r.(?)" "p.(Ala1767Val)" "" "" "0000936167" "00024072" "50" "4480" "0" "4480" "0" "c.4480C>T" "r.(?)" "p.(Arg1494Trp)" "" "" "0000946004" "00024072" "90" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Ala193Thr)" "" "" "0000946091" "00024072" "50" "3649" "0" "3649" "0" "c.3649A>T" "r.(?)" "p.(Ser1217Cys)" "" "" "0000946092" "00024072" "50" "449" "0" "449" "0" "c.449A>G" "r.(?)" "p.(Asp150Gly)" "" "" "0000946116" "00024072" "50" "4009" "0" "4009" "0" "c.4009A>C" "r.(?)" "p.(Lys1337Gln)" "" "" "0000946125" "00024072" "50" "4926" "0" "4927" "2" "c.4926_4927+2del" "r.spl" "p.?" "" "" "0000946133" "00024072" "50" "1211" "-5" "1211" "-5" "c.1211-5G>A" "r.spl?" "p.?" "" "" "0000946144" "00024072" "30" "4009" "0" "4009" "0" "c.4009A>C" "r.(?)" "p.(Lys1337Gln)" "" "" "0000946145" "00024072" "30" "5791" "0" "5791" "0" "c.5791C>T" "r.(?)" "p.(Arg1931Cys)" "" "" "0000946146" "00024072" "30" "7382" "0" "7382" "0" "c.7382G>A" "r.(?)" "p.(Ser2461Asn)" "" "" "0000946147" "00024072" "30" "5791" "0" "5791" "0" "c.5791C>T" "r.(?)" "p.(Arg1931Cys)" "" "" "0000946148" "00024072" "30" "7382" "0" "7382" "0" "c.7382G>A" "r.(?)" "p.(Ser2461Asn)" "" "" "0000946191" "00024072" "50" "1568" "0" "1568" "0" "c.1568T>C" "r.(?)" "p.(Val523Ala)" "" "" "0000946206" "00024072" "50" "3449" "0" "3449" "0" "c.3449G>A" "r.(?)" "p.(Arg1150Gln)" "" "" "0000948824" "00024072" "50" "292" "0" "292" "0" "c.292G>C" "r.(?)" "p.(Glu98Gln)" "" "" "0000948825" "00024072" "50" "1019" "0" "1019" "0" "c.1019A>G" "r.(?)" "p.(Tyr340Cys)" "" "" "0000948826" "00024072" "30" "1142" "0" "1142" "0" "c.1142G>A" "r.(?)" "p.(Arg381His)" "" "" "0000948827" "00024072" "10" "1210" "8" "1210" "8" "c.1210+8G>A" "r.(=)" "p.(=)" "" "" "0000948828" "00024072" "30" "1242" "0" "1242" "0" "c.1242C>G" "r.(?)" "p.(Ile414Met)" "" "" "0000948829" "00024072" "10" "1412" "-6" "1412" "-6" "c.1412-6C>T" "r.(=)" "p.(=)" "" "" "0000948830" "00024072" "50" "1898" "0" "1898" "0" "c.1898C>T" "r.(?)" "p.(Thr633Met)" "" "" "0000948831" "00024072" "50" "2092" "0" "2092" "0" "c.2092G>A" "r.(?)" "p.(Gly698Ser)" "" "" "0000948832" "00024072" "50" "2120" "0" "2120" "0" "c.2120A>G" "r.(?)" "p.(Gln707Arg)" "" "" "0000948833" "00024072" "10" "2316" "0" "2316" "0" "c.2316C>T" "r.(?)" "p.(=)" "" "" "0000948834" "00024072" "50" "2491" "0" "2491" "0" "c.2491G>A" "r.(?)" "p.(Val831Ile)" "" "" "0000948835" "00024072" "50" "2819" "0" "2819" "0" "c.2819T>C" "r.(?)" "p.(Met940Thr)" "" "" "0000948836" "00024072" "50" "2879" "0" "2879" "0" "c.2879T>G" "r.(?)" "p.(Val960Gly)" "" "" "0000948837" "00024072" "50" "3004" "0" "3004" "0" "c.3004C>T" "r.(?)" "p.(Arg1002Trp)" "" "" "0000948838" "00024072" "30" "3133" "0" "3133" "0" "c.3133C>A" "r.(?)" "p.(His1045Asn)" "" "" "0000948839" "00024072" "10" "3243" "0" "3243" "0" "c.3243G>A" "r.(?)" "p.(=)" "" "" "0000948840" "00024072" "30" "3649" "0" "3649" "0" "c.3649A>T" "r.(?)" "p.(Ser1217Cys)" "" "" "0000948841" "00024072" "70" "3937" "0" "3937" "0" "c.3937C>T" "r.(?)" "p.(Arg1313*)" "" "" "0000948842" "00024072" "30" "3938" "0" "3938" "0" "c.3938G>A" "r.(?)" "p.(Arg1313Gln)" "" "" "0000948843" "00024072" "50" "4991" "0" "4991" "0" "c.4991C>T" "r.(?)" "p.(Thr1664Met)" "" "" "0000948844" "00024072" "50" "5074" "0" "5074" "0" "c.5074G>A" "r.(?)" "p.(Val1692Met)" "" "" "0000948845" "00024072" "50" "5296" "0" "5296" "0" "c.5296T>C" "r.(?)" "p.(Trp1766Arg)" "" "" "0000948846" "00024072" "10" "5299" "-14" "5299" "-14" "c.5299-14C>G" "r.(=)" "p.(=)" "" "" "0000948847" "00024072" "10" "5427" "0" "5427" "0" "c.5427G>A" "r.(?)" "p.(=)" "" "" "0000948848" "00024072" "90" "5540" "-2" "5540" "-2" "c.5540-2A>G" "r.spl?" "p.?" "" "" "0000948849" "00024072" "50" "6563" "0" "6563" "0" "c.6563C>T" "r.(?)" "p.(Thr2188Met)" "" "" "0000948850" "00024072" "50" "6703" "0" "6703" "0" "c.6703G>A" "r.(?)" "p.(Gly2235Ser)" "" "" "0000948851" "00024072" "10" "7107" "0" "7107" "0" "c.7107C>T" "r.(?)" "p.(=)" "" "" "0000948852" "00024072" "90" "7150" "0" "7151" "0" "c.7150_7151dup" "r.(?)" "p.(Ile2385Profs*40)" "" "" "0000952604" "00024072" "50" "6830" "0" "6830" "0" "c.6830G>A" "r.(?)" "p.(Arg2277His)" "" "" "0000953641" "00024072" "50" "3799" "0" "3799" "0" "c.3799C>T" "r.(?)" "p.(Arg1267Trp)" "" "" "0000957869" "00024072" "70" "3070" "0" "3070" "0" "c.3070C>T" "r.(?)" "p.(Gln1024Ter)" "" "" "0000959820" "00024072" "50" "7394" "0" "7394" "0" "c.7394C>T" "r.(?)" "p.(Thr2465Ile)" "" "" "0000960220" "00024072" "50" "6052" "0" "6052" "0" "c.6052C>T" "r.(?)" "p.(Arg2018Cys)" "" "" "0000964408" "00024072" "50" "31" "0" "31" "0" "c.31G>A" "r.(?)" "p.(Gly11Ser)" "" "" "0000964410" "00024072" "10" "699" "9" "699" "9" "c.699+9G>A" "r.(=)" "p.(=)" "" "" "0000964411" "00024072" "90" "759" "0" "759" "0" "c.759C>A" "r.(?)" "p.(Tyr253*)" "" "" "0000964412" "00024072" "50" "1032" "0" "1047" "2" "c.1032_1047+2dup" "r.spl?" "p.?" "" "" "0000964413" "00024072" "50" "1498" "0" "1498" "0" "c.1498T>C" "r.(?)" "p.(Phe500Leu)" "" "" "0000964414" "00024072" "10" "1518" "0" "1518" "0" "c.1518C>T" "r.(?)" "p.(Ser506=)" "" "" "0000964415" "00024072" "30" "1600" "0" "1600" "0" "c.1600G>A" "r.(?)" "p.(Glu534Lys)" "" "" "0000964416" "00024072" "10" "1824" "0" "1824" "0" "c.1824C>T" "r.(?)" "p.(=)" "" "" "0000964418" "00024072" "30" "2078" "0" "2078" "0" "c.2078A>C" "r.(?)" "p.(Asp693Ala)" "" "" "0000964420" "00024072" "10" "2265" "4" "2265" "4" "c.2265+4C>A" "r.spl?" "p.?" "" "" "0000964421" "00024072" "10" "2390" "-12" "2390" "-12" "c.2390-12G>A" "r.(=)" "p.(=)" "" "" "0000964422" "00024072" "10" "2686" "0" "2686" "0" "c.2686G>A" "r.(?)" "p.(Gly896Arg)" "" "" "0000964424" "00024072" "50" "3310" "0" "3310" "0" "c.3310G>A" "r.(?)" "p.(Glu1104Lys)" "" "" "0000964426" "00024072" "30" "4005" "0" "4005" "0" "c.4005G>C" "r.(?)" "p.(=)" "" "" "0000964427" "00024072" "50" "4229" "0" "4229" "0" "c.4229T>A" "r.(?)" "p.(Ile1410Asn)" "" "" "0000964428" "00024072" "90" "4350" "0" "4351" "0" "c.4350_4351insACAGGGGAAGGTGAAGTGCTCAGGG" "r.(?)" "p.(Pro1451Thrfs*68)" "" "" "0000964429" "00024072" "10" "4530" "0" "4530" "0" "c.4530C>T" "r.(?)" "p.(=)" "" "" "0000964430" "00024072" "10" "4581" "-5" "4581" "-5" "c.4581-5T>A" "r.spl?" "p.?" "" "" "0000964431" "00024072" "50" "4671" "0" "4671" "0" "c.4671C>A" "r.(?)" "p.(Ser1557Arg)" "" "" "0000964432" "00024072" "50" "4706" "0" "4706" "0" "c.4706C>T" "r.(?)" "p.(Ala1569Val)" "" "" "0000964434" "00024072" "50" "5468" "0" "5468" "0" "c.5468C>T" "r.(?)" "p.(Thr1823Met)" "" "" "0000964436" "00024072" "50" "5786" "0" "5786" "0" "c.5786T>C" "r.(?)" "p.(Ile1929Thr)" "" "" "0000964437" "00024072" "30" "5842" "17" "5842" "17" "c.5842+17G>A" "r.(=)" "p.(=)" "" "" "0000964438" "00024072" "50" "5993" "0" "5993" "0" "c.5993A>G" "r.(?)" "p.(Asn1998Ser)" "" "" "0000964440" "00024072" "30" "6594" "0" "6594" "0" "c.6594C>T" "r.(?)" "p.(Gly2198=)" "" "" "0000964441" "00024072" "30" "6817" "0" "6817" "0" "c.6817G>A" "r.(?)" "p.(Ala2273Thr)" "" "" "0000964442" "00024072" "50" "6825" "0" "6825" "0" "c.6825C>A" "r.(?)" "p.(Ser2275Arg)" "" "" "0000964443" "00024072" "90" "7150" "0" "7151" "0" "c.7150_7151dup" "r.(?)" "p.(Ile2385Profs*40)" "" "" "0000964444" "00024072" "50" "7487" "0" "7487" "0" "c.7487T>C" "r.(?)" "p.(Val2496Ala)" "" "" "0000971562" "00024072" "50" "720" "0" "721" "0" "c.720_721inv" "r.(?)" "p.(Val241Met)" "" "" "0000972103" "00024072" "50" "1134" "0" "1134" "0" "c.1134G>A" "r.(?)" "p.(Val378=)" "" "" "0000977510" "00024072" "50" "874" "0" "874" "0" "c.874G>A" "r.(?)" "p.(Val292Met)" "" "" "0000977511" "00024072" "30" "970" "-5" "970" "-5" "c.970-5A>G" "r.spl?" "p.?" "" "" "0000977512" "00024072" "30" "2292" "0" "2292" "0" "c.2292C>T" "r.(?)" "p.(Pro764=)" "" "" "0000977513" "00024072" "10" "2389" "15" "2389" "15" "c.2389+15A>G" "r.(=)" "p.(=)" "" "" "0000977514" "00024072" "10" "2390" "-9" "2390" "-9" "c.2390-9T>C" "r.(=)" "p.(=)" "" "" "0000977515" "00024072" "30" "2415" "0" "2415" "0" "c.2415C>T" "r.(?)" "p.(=)" "" "" "0000977516" "00024072" "50" "2425" "0" "2425" "0" "c.2425G>A" "r.(?)" "p.(Val809Met)" "" "" "0000977517" "00024072" "50" "2737" "0" "2737" "0" "c.2737G>A" "r.(?)" "p.(Glu913Lys)" "" "" "0000977518" "00024072" "50" "3088" "0" "3088" "0" "c.3088C>A" "r.(?)" "p.(Pro1030Thr)" "" "" "0000977519" "00024072" "50" "3872" "0" "3872" "0" "c.3872G>A" "r.(?)" "p.(Arg1291His)" "" "" "0000977520" "00024072" "50" "4301" "0" "4301" "0" "c.4301G>T" "r.(?)" "p.(Arg1434Leu)" "" "" "0000977521" "00024072" "30" "4301" "0" "4301" "0" "c.4301G>T" "r.(?)" "p.(Arg1434Leu)" "" "" "0000977522" "00024072" "10" "5842" "17" "5842" "17" "c.5842+17G>A" "r.(=)" "p.(=)" "" "" "0000977523" "00024072" "50" "6673" "0" "6673" "0" "c.6673T>C" "r.(?)" "p.(Phe2225Leu)" "" "" "0000977524" "00024072" "30" "7135" "7" "7135" "7" "c.7135+7G>A" "r.(=)" "p.(=)" "" "" "0000977525" "00024072" "50" "7334" "0" "7334" "0" "c.7334A>G" "r.(?)" "p.(His2445Arg)" "" "" "0000977526" "00024072" "30" "7344" "0" "7344" "0" "c.7344G>A" "r.(?)" "p.(=)" "" "" "0000977527" "00024072" "50" "7423" "0" "7423" "0" "c.7423G>A" "r.(?)" "p.(Val2475Ile)" "" "" "0000985114" "00024072" "50" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Ala280Thr)" "" "" "0000987498" "00024072" "50" "6617" "0" "6617" "0" "c.6617G>A" "r.(?)" "p.(Arg2206Gln)" "" "" "0000987736" "00024072" "90" "7581" "0" "7581" "0" "c.7581del" "r.(?)" "p.(Ile2527MetfsTer2)" "" "" "0000989362" "00024072" "50" "4628" "0" "4628" "0" "c.4628G>A" "r.(?)" "p.(Arg1543Gln)" "" "" "0000989376" "00024072" "50" "470" "0" "470" "0" "c.470G>A" "r.(?)" "p.(Arg157His)" "" "" "0000989691" "00024072" "50" "7280" "0" "7280" "0" "c.7280C>T" "r.(?)" "p.(Ala2427Val)" "" "" "0000996174" "00024072" "50" "449" "0" "449" "0" "c.449A>G" "r.(?)" "p.(Asp150Gly)" "" "" "0000996175" "00024072" "50" "1132" "0" "1132" "0" "c.1132G>A" "r.(?)" "p.(Val378Met)" "" "" "0000996176" "00024072" "50" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "" "0000996177" "00024072" "50" "1309" "0" "1309" "0" "c.1309C>T" "r.(?)" "p.(Arg437Cys)" "" "" "0000996178" "00024072" "50" "1471" "0" "1471" "0" "c.1471G>A" "r.(?)" "p.(Val491Met)" "" "" "0000996179" "00024072" "50" "1673" "0" "1673" "0" "c.1673G>A" "r.(?)" "p.(Arg558His)" "" "" "0000996180" "00024072" "10" "1878" "0" "1878" "0" "c.1878C>T" "r.(?)" "p.(=)" "" "" "0000996181" "00024072" "50" "1885" "0" "1885" "0" "c.1885C>T" "r.(?)" "p.(Arg629Trp)" "" "" "0000996182" "00024072" "50" "1981" "0" "1981" "0" "c.1981G>A" "r.(?)" "p.(Ala661Thr)" "" "" "0000996183" "00024072" "90" "2265" "5" "2265" "5" "c.2265+5G>A" "r.spl?" "p.?" "" "" "0000996184" "00024072" "10" "2394" "0" "2394" "0" "c.2394C>T" "r.(?)" "p.(=)" "" "" "0000996185" "00024072" "50" "2450" "0" "2450" "0" "c.2450T>C" "r.(?)" "p.(Ile817Thr)" "" "" "0000996186" "00024072" "30" "2507" "0" "2507" "0" "c.2507C>A" "r.(?)" "p.(Pro836Gln)" "" "" "0000996187" "00024072" "30" "2815" "0" "2815" "0" "c.2815A>G" "r.(?)" "p.(Asn939Asp)" "" "" "0000996188" "00024072" "50" "2819" "0" "2819" "0" "c.2819T>C" "r.(?)" "p.(Met940Thr)" "" "" "0000996189" "00024072" "30" "2960" "0" "2960" "0" "c.2960C>G" "r.(?)" "p.(Ser987Cys)" "" "" "0000996190" "00024072" "30" "3449" "0" "3449" "0" "c.3449G>A" "r.(?)" "p.(Arg1150Gln)" "" "" "0000996191" "00024072" "50" "3467" "0" "3467" "0" "c.3467G>A" "r.(?)" "p.(Ser1156Asn)" "" "" "0000996192" "00024072" "50" "3502" "0" "3502" "0" "c.3502G>A" "r.(?)" "p.(Gly1168Ser)" "" "" "0000996193" "00024072" "50" "3674" "0" "3674" "0" "c.3674C>A" "r.(?)" "p.(Thr1225Asn)" "" "" "0000996194" "00024072" "30" "3872" "0" "3872" "0" "c.3872G>A" "r.(?)" "p.(Arg1291His)" "" "" "0000996195" "00024072" "10" "3964" "9" "3964" "9" "c.3964+9C>T" "r.(=)" "p.(=)" "" "" "0000996196" "00024072" "50" "4474" "0" "4474" "0" "c.4474G>A" "r.(?)" "p.(Glu1492Lys)" "" "" "0000996197" "00024072" "50" "5128" "0" "5128" "0" "c.5128G>A" "r.(?)" "p.(Glu1710Lys)" "" "" "0000996198" "00024072" "50" "5617" "0" "5617" "0" "c.5617A>G" "r.(?)" "p.(Met1873Val)" "" "" "0000996199" "00024072" "10" "5910" "0" "5910" "0" "c.5910C>T" "r.(?)" "p.(=)" "" "" "0000996200" "00024072" "50" "6102" "0" "6102" "0" "c.6102G>T" "r.(?)" "p.(=)" "" "" "0000996201" "00024072" "50" "6293" "0" "6293" "0" "c.6293T>G" "r.(?)" "p.(Val2098Gly)" "" "" "0000996202" "00024072" "70" "6478" "0" "6478" "0" "c.6478A>T" "r.(?)" "p.(Ile2160Phe)" "" "" "0000996203" "00024072" "10" "6573" "0" "6573" "0" "c.6573G>A" "r.(?)" "p.(=)" "" "" "0000996204" "00024072" "50" "6616" "0" "6616" "0" "c.6616C>T" "r.(?)" "p.(Arg2206Trp)" "" "" "0000996205" "00024072" "50" "6663" "0" "6663" "0" "c.6663G>A" "r.(?)" "p.(=)" "" "" "0000996206" "00024072" "50" "6664" "0" "6664" "0" "c.6664T>A" "r.(?)" "p.(Phe2222Ile)" "" "" "0000996207" "00024072" "50" "6958" "0" "6958" "0" "c.6958G>A" "r.(?)" "p.(Gly2320Arg)" "" "" "0000996208" "00024072" "50" "6998" "0" "6998" "0" "c.6998C>A" "r.(?)" "p.(Ala2333Asp)" "" "" "0000996209" "00024072" "50" "7484" "0" "7484" "0" "c.7484G>A" "r.(?)" "p.(Arg2495His)" "" "" "0000996210" "00024072" "30" "7499" "0" "7499" "0" "c.7499G>A" "r.(?)" "p.(Ser2500Asn)" "" "" "0000996211" "00024072" "50" "7510" "0" "7510" "0" "c.7510G>C" "r.(?)" "p.(Asp2504His)" "" "" "0000996212" "00024072" "50" "8050" "0" "8050" "0" "c.8050G>A" "r.(?)" "p.(Val2684Met)" "" "" "0000996213" "00024072" "50" "8170" "0" "8170" "0" "c.8170G>T" "r.(?)" "p.(Val2724Phe)" "" "" "0001007108" "00024072" "30" "1568" "0" "1568" "0" "c.1568T>C" "r.(?)" "p.(Val523Ala)" "" "" "0001007477" "00024072" "70" "6346" "0" "6346" "0" "c.6346G>A" "r.(?)" "p.(Asp2116Asn)" "" "" "0001007478" "00024072" "70" "841" "0" "841" "0" "c.841T>C" "r.(?)" "p.(Tyr281His)" "" "" "0001007479" "00024072" "70" "4372" "0" "4372" "0" "c.4372A>G" "r.(?)" "p.(Arg1458Gly)" "" "" "0001007556" "00024072" "70" "7228" "0" "7228" "0" "c.7228C>T" "r.(?)" "p.(Arg2410Cys)" "" "" "0001012716" "00024072" "50" "6425" "0" "6425" "0" "c.6425G>A" "r.(?)" "p.(Arg2142Lys)" "" "" "0001012930" "00024072" "50" "1102" "0" "1102" "0" "c.1102G>A" "r.(?)" "p.(Val368Met)" "" "" "0001014277" "00024072" "50" "248" "0" "265" "0" "c.248_265dup" "r.(?)" "p.(Pro88_Arg89insHisArgLysPheHisPro)" "" "" "0001014278" "00024072" "50" "448" "0" "448" "0" "c.448G>A" "r.(?)" "p.(Asp150Asn)" "" "" "0001014279" "00024072" "50" "569" "0" "569" "0" "c.569C>T" "r.(?)" "p.(Ala190Val)" "" "" "0001014280" "00024072" "50" "914" "0" "914" "0" "c.914C>T" "r.(?)" "p.(Ala305Val)" "" "" "0001014281" "00024072" "90" "970" "-4" "970" "-4" "c.970-4A>G" "r.spl?" "p.?" "" "" "0001014282" "00024072" "30" "1026" "0" "1026" "0" "c.1026C>T" "r.(?)" "p.(Pro342=)" "" "" "0001014283" "00024072" "50" "1102" "0" "1102" "0" "c.1102G>A" "r.(?)" "p.(Val368Met)" "" "" "0001014284" "00024072" "50" "1258" "0" "1258" "0" "c.1258C>T" "r.(?)" "p.(Arg420Trp)" "" "" "0001014285" "00024072" "50" "1267" "0" "1267" "0" "c.1267A>T" "r.(?)" "p.(Thr423Ser)" "" "" "0001014286" "00024072" "30" "1354" "0" "1354" "0" "c.1354G>A" "r.(?)" "p.(Val452Met)" "" "" "0001014287" "00024072" "50" "1382" "0" "1382" "0" "c.1382G>A" "r.(?)" "p.(Arg461His)" "" "" "0001014288" "00024072" "90" "1611" "0" "1611" "0" "c.1611del" "r.(?)" "p.(Tyr538Thrfs*10)" "" "" "0001014289" "00024072" "50" "1616" "0" "1616" "0" "c.1616C>T" "r.(?)" "p.(Pro539Leu)" "" "" "0001014290" "00024072" "50" "2587" "0" "2587" "0" "c.2587C>G" "r.(?)" "p.(Pro863Ala)" "" "" "0001014291" "00024072" "50" "2747" "0" "2747" "0" "c.2747G>A" "r.(?)" "p.(Arg916Gln)" "" "" "0001014292" "00024072" "10" "2799" "0" "2799" "0" "c.2799C>T" "r.(?)" "p.(=)" "" "" "0001014293" "00024072" "30" "2811" "14" "2811" "14" "c.2811+14C>T" "r.(=)" "p.(=)" "" "" "0001014294" "00024072" "50" "3055" "0" "3055" "0" "c.3055G>T" "r.(?)" "p.(Gly1019Cys)" "" "" "0001014295" "00024072" "30" "3790" "5" "3790" "5" "c.3790+5G>A" "r.spl?" "p.?" "" "" "0001014296" "00024072" "50" "4202" "0" "4202" "0" "c.4202A>G" "r.(?)" "p.(Lys1401Arg)" "" "" "0001014297" "00024072" "10" "4650" "0" "4650" "0" "c.4650C>T" "r.(?)" "p.(Asn1550=)" "" "" "0001014298" "00024072" "50" "4880" "0" "4880" "0" "c.4880G>A" "r.(?)" "p.(Arg1627His)" "" "" "0001014299" "00024072" "30" "4914" "0" "4914" "0" "c.4914G>A" "r.(?)" "p.(Lys1638=)" "" "" "0001014300" "00024072" "50" "5356" "0" "5356" "0" "c.5356A>C" "r.(?)" "p.(Asn1786His)" "" "" "0001014301" "00024072" "50" "5945" "0" "5945" "0" "c.5945G>A" "r.(?)" "p.(Arg1982His)" "" "" "0001014302" "00024072" "10" "6030" "0" "6030" "0" "c.6030C>T" "r.(?)" "p.(=)" "" "" "0001014303" "00024072" "50" "6398" "0" "6398" "0" "c.6398G>A" "r.(?)" "p.(Arg2133His)" "" "" "0001014304" "00024072" "50" "6502" "0" "6502" "0" "c.6502G>T" "r.(?)" "p.(Val2168Leu)" "" "" "0001014305" "00024072" "50" "6682" "0" "6682" "0" "c.6682C>T" "r.(?)" "p.(Arg2228Trp)" "" "" "0001014306" "00024072" "50" "7303" "0" "7303" "0" "c.7303G>A" "r.(?)" "p.(Gly2435Ser)" "" "" "0001014307" "00024072" "50" "7327" "0" "7327" "0" "c.7327C>T" "r.(?)" "p.(Arg2443Trp)" "" "" "0001014308" "00024072" "50" "7400" "0" "7400" "0" "c.7400G>A" "r.(?)" "p.(Arg2467His)" "" "" "0001020083" "00024072" "50" "5533" "0" "5533" "0" "c.5533A>T" "r.(?)" "p.(Ile1845Phe)" "" "" "0001022138" "00024072" "90" "1813" "2" "1813" "2" "c.1813+2T>C" "r.[1677_1813del,=]" "p.[Ser559ArgfsTer15,=]" "11i" "" "0001023889" "00024072" "50" "3961" "0" "3961" "0" "c.3961G>C" "r.(?)" "p.(Glu1321Gln)" "" "" "0001023906" "00024072" "50" "6923" "0" "6923" "0" "c.6923C>T" "r.(?)" "p.(Pro2308Leu)" "" "" "0001025312" "00024072" "50" "652" "0" "652" "0" "c.652G>A" "r.(?)" "p.(Ala218Thr)" "" "" "0001025313" "00024072" "30" "1576" "0" "1576" "0" "c.1576C>T" "r.(?)" "p.(Arg526Trp)" "" "" "0001025314" "00024072" "50" "1766" "0" "1766" "0" "c.1766C>T" "r.(?)" "p.(Ser589Leu)" "" "" "0001025315" "00024072" "30" "1851" "0" "1851" "0" "c.1851A>G" "r.(?)" "p.(=)" "" "" "0001025316" "00024072" "30" "1923" "0" "1923" "0" "c.1923C>T" "r.(?)" "p.(His641=)" "" "" "0001025317" "00024072" "10" "2049" "0" "2049" "0" "c.2049C>T" "r.(?)" "p.(=)" "" "" "0001025318" "00024072" "50" "2078" "0" "2078" "0" "c.2078A>C" "r.(?)" "p.(Asp693Ala)" "" "" "0001025319" "00024072" "10" "2475" "0" "2475" "0" "c.2475C>T" "r.(?)" "p.(=)" "" "" "0001025320" "00024072" "50" "2702" "0" "2702" "0" "c.2702A>T" "r.(?)" "p.(Lys901Met)" "" "" "0001025321" "00024072" "30" "2994" "0" "2994" "0" "c.2994A>G" "r.(?)" "p.(Gln998=)" "" "" "0001025322" "00024072" "30" "3192" "16" "3192" "16" "c.3192+16C>T" "r.(=)" "p.(=)" "" "" "0001025323" "00024072" "30" "3791" "-19" "3791" "-19" "c.3791-19C>T" "r.(=)" "p.(=)" "" "" "0001025324" "00024072" "50" "3967" "0" "3967" "0" "c.3967G>A" "r.(?)" "p.(Val1323Met)" "" "" "0001025325" "00024072" "30" "3972" "0" "3972" "0" "c.3972T>C" "r.(?)" "p.(=)" "" "" "0001025326" "00024072" "50" "4092" "0" "4092" "0" "c.4092G>C" "r.(?)" "p.(Leu1364Phe)" "" "" "0001025327" "00024072" "10" "4140" "0" "4140" "0" "c.4140C>T" "r.(?)" "p.(=)" "" "" "0001025328" "00024072" "50" "4219" "0" "4219" "0" "c.4219G>A" "r.(?)" "p.(Val1407Met)" "" "" "0001025329" "00024072" "30" "4269" "0" "4269" "0" "c.4269C>T" "r.(?)" "p.(Phe1423=)" "" "" "0001025330" "00024072" "10" "4296" "0" "4296" "0" "c.4296G>A" "r.(?)" "p.(Pro1432=)" "" "" "0001025331" "00024072" "50" "4576" "0" "4576" "0" "c.4576C>G" "r.(?)" "p.(Arg1526Gly)" "" "" "0001025332" "00024072" "50" "4715" "0" "4715" "0" "c.4715G>A" "r.(?)" "p.(Gly1572Glu)" "" "" "0001025333" "00024072" "50" "4763" "0" "4763" "0" "c.4763C>G" "r.(?)" "p.(Ala1588Gly)" "" "" "0001025334" "00024072" "30" "4768" "0" "4768" "0" "c.4768A>G" "r.(?)" "p.(Ile1590Val)" "" "" "0001025335" "00024072" "30" "5160" "0" "5160" "0" "c.5160C>T" "r.(?)" "p.(Phe1720=)" "" "" "0001025336" "00024072" "30" "5220" "0" "5220" "0" "c.5220C>T" "r.(?)" "p.(=)" "" "" "0001025337" "00024072" "50" "5500" "0" "5500" "0" "c.5500C>T" "r.(?)" "p.(His1834Tyr)" "" "" "0001025338" "00024072" "30" "5539" "23" "5539" "27" "c.5539+23_5539+27dup" "r.(=)" "p.(=)" "" "" "0001025339" "00024072" "90" "5735" "0" "5735" "0" "c.5735del" "r.(?)" "p.(Gly1912Alafs*41)" "" "" "0001025340" "00024072" "10" "5842" "8" "5842" "8" "c.5842+8G>A" "r.(=)" "p.(=)" "" "" "0001025341" "00024072" "30" "5843" "-6" "5843" "-6" "c.5843-6C>G" "r.(=)" "p.(=)" "" "" "0001025342" "00024072" "10" "6005" "-14" "6005" "-14" "c.6005-14C>T" "r.(=)" "p.(=)" "" "" "0001025343" "00024072" "30" "7108" "0" "7108" "0" "c.7108G>A" "r.(?)" "p.(Gly2370Ser)" "" "" "0001025344" "00024072" "50" "7256" "0" "7256" "0" "c.7256C>T" "r.(?)" "p.(Thr2419Met)" "" "" "0001025345" "00024072" "30" "7812" "0" "7812" "0" "c.7812C>T" "r.(?)" "p.(=)" "" "" "0001025346" "00024072" "50" "7840" "0" "7840" "0" "c.7840G>A" "r.(?)" "p.(Val2614Met)" "" "" "0001025347" "00024072" "10" "7990" "19" "7990" "19" "c.7990+19G>T" "r.(=)" "p.(=)" "" "" "0001030856" "00024072" "50" "7988" "0" "7988" "0" "c.7988C>T" "r.(?)" "p.(Ala2663Val)" "" "" "0001030929" "00024072" "50" "7959" "0" "7961" "0" "c.7959_7961del" "r.(?)" "p.(Lys2653del)" "" "" "0001030930" "00024072" "70" "6821" "0" "6821" "0" "c.6821A>G" "r.(?)" "p.(Tyr2274Cys)" "" "" "0001036111" "00024072" "50" "253" "0" "253" "0" "c.253A>G" "r.(?)" "p.(Lys85Glu)" "" "" "0001036112" "00024072" "70" "554" "0" "554" "0" "c.554G>A" "r.(?)" "p.(Trp185Ter)" "" "" "0001036113" "00024072" "50" "772" "0" "772" "0" "c.772C>T" "r.(?)" "p.(Pro258Ser)" "" "" "0001036114" "00024072" "50" "1063" "0" "1063" "0" "c.1063G>C" "r.(?)" "p.(Ala355Pro)" "" "" "0001036115" "00024072" "30" "1215" "0" "1215" "0" "c.1215C>T" "r.(?)" "p.(Ala405=)" "" "" "0001036116" "00024072" "50" "1513" "0" "1513" "0" "c.1513G>A" "r.(?)" "p.(Gly505Ser)" "" "" "0001036117" "00024072" "50" "1924" "0" "1924" "0" "c.1924G>A" "r.(?)" "p.(Val642Ile)" "" "" "0001036118" "00024072" "70" "1948" "0" "1948" "0" "c.1948C>T" "r.(?)" "p.(Arg650Ter)" "" "" "0001036119" "00024072" "50" "2431" "0" "2431" "0" "c.2431G>C" "r.(?)" "p.(Gly811Arg)" "" "" "0001036120" "00024072" "10" "2568" "0" "2568" "0" "c.2568C>T" "r.(?)" "p.(Pro856=)" "" "" "0001036121" "00024072" "50" "3241" "0" "3241" "0" "c.3241G>A" "r.(?)" "p.(Ala1081Thr)" "" "" "0001036122" "00024072" "30" "3449" "0" "3449" "0" "c.3449G>A" "r.(?)" "p.(Arg1150Gln)" "" "" "0001036123" "00024072" "30" "3791" "-16" "3791" "-16" "c.3791-16C>T" "r.(=)" "p.(=)" "" "" "0001036124" "00024072" "50" "4054" "0" "4054" "0" "c.4054C>T" "r.(?)" "p.(Arg1352Cys)" "" "" "0001036125" "00024072" "50" "4969" "0" "4969" "0" "c.4969C>G" "r.(?)" "p.(Arg1657Gly)" "" "" "0001036126" "00024072" "30" "5889" "0" "5889" "0" "c.5889G>A" "r.(?)" "p.(=)" "" "" "0001036127" "00024072" "30" "5954" "0" "5954" "0" "c.5954C>T" "r.(?)" "p.(Ser1985Leu)" "" "" "0001036128" "00024072" "10" "6005" "-9" "6005" "-9" "c.6005-9T>C" "r.(=)" "p.(=)" "" "" "0001036129" "00024072" "50" "6052" "0" "6052" "0" "c.6052C>T" "r.(?)" "p.(Arg2018Cys)" "" "" "0001036130" "00024072" "50" "6688" "0" "6688" "0" "c.6688C>T" "r.(?)" "p.(Arg2230Cys)" "" "" "0001036131" "00024072" "30" "6715" "0" "6715" "0" "c.6715C>T" "r.(?)" "p.(Arg2239Trp)" "" "" "0001036132" "00024072" "50" "7423" "0" "7423" "0" "c.7423G>A" "r.(?)" "p.(Val2475Ile)" "" "" "0001036133" "00024072" "30" "7561" "18" "7561" "18" "c.7561+18G>A" "r.(=)" "p.(=)" "" "" "0001045159" "00024072" "70" "2971" "0" "2971" "0" "c.2971C>T" "r.(?)" "p.(Arg991Ter)" "" "" "0001046098" "00024072" "90" "554" "0" "554" "0" "c.554G>A" "r.(?)" "p.(Trp185Ter)" "" "" "0001046099" "00024072" "50" "1885" "0" "1885" "0" "c.1885C>T" "r.(?)" "p.(Arg629Trp)" "" "" "0001046100" "00024072" "30" "2266" "-4" "2266" "-4" "c.2266-4G>A" "r.spl?" "p.?" "" "" "0001046101" "00024072" "90" "2971" "0" "2971" "0" "c.2971C>T" "r.(?)" "p.(Arg991*)" "" "" "0001046102" "00024072" "50" "4057" "0" "4057" "0" "c.4057G>A" "r.(?)" "p.(Val1353Ile)" "" "" "0001046103" "00024072" "50" "4771" "0" "4771" "0" "c.4771C>T" "r.(?)" "p.(Arg1591Trp)" "" "" "0001046104" "00024072" "50" "5278" "0" "5278" "0" "c.5278G>A" "r.(?)" "p.(Gly1760Ser)" "" "" "0001046105" "00024072" "50" "5312" "0" "5312" "0" "c.5312C>G" "r.(?)" "p.(Pro1771Arg)" "" "" "0001046106" "00024072" "50" "8173" "0" "8173" "0" "c.8173C>A" "r.(?)" "p.(Pro2725Thr)" "" "" "0001046978" "00024072" "90" "3126" "0" "3126" "0" "c.3126C>G" "r.(?)" "p.(Tyr1042Ter)" "" "" "0001046980" "00024072" "50" "5759" "0" "5759" "0" "c.5759C>T" "r.(?)" "p.(Pro1920Leu)" "" "" "0001046997" "00024072" "50" "6945" "0" "6945" "0" "c.6945C>G" "r.(?)" "p.(His2315Gln)" "" "" "0001047034" "00024072" "50" "6052" "0" "6052" "0" "c.6052C>G" "r.(?)" "p.(Arg2018Gly)" "" "" "0001047073" "00024072" "50" "6284" "0" "6284" "0" "c.6284C>T" "r.(?)" "p.(Thr2095Ile)" "38" "" "0001047244" "00024072" "50" "3014" "0" "3014" "0" "c.3014C>T" "r.(?)" "p.(Ser1005Leu)" "" "" "0001048403" "00024072" "70" "2872" "0" "2872" "0" "c.2872del" "r.(?)" "p.(Val958Ter)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 298 "{{screeningid}}" "{{variantid}}" "0000050526" "0000079506" "0000053042" "0000082974" "0000053081" "0000083013" "0000053084" "0000083016" "0000053085" "0000083017" "0000053086" "0000083018" "0000053089" "0000083021" "0000053090" "0000083022" "0000053091" "0000083023" "0000053092" "0000083024" "0000053093" "0000083025" "0000137933" "0000234248" "0000175707" "0000398566" "0000207844" "0000437550" "0000207851" "0000437557" "0000208997" "0000439066" "0000209582" "0000439737" "0000209851" "0000440079" "0000209862" "0000440092" "0000226617" "0000458958" "0000266598" "0000597304" "0000270423" "0000604183" "0000275456" "0000629463" "0000287415" "0000643211" "0000287416" "0000643212" "0000287417" "0000643213" "0000287418" "0000643214" "0000287419" "0000643215" "0000287420" "0000643216" "0000287421" "0000643217" "0000287422" "0000643218" "0000287423" "0000643219" "0000287424" "0000643220" "0000287425" "0000643221" "0000287426" "0000643222" "0000287427" "0000643223" "0000287428" "0000643224" "0000287429" "0000643225" "0000287430" "0000643226" "0000287431" "0000643227" "0000287432" "0000643228" "0000287433" "0000643229" "0000287434" "0000643230" "0000287435" "0000643231" "0000287436" "0000643232" "0000287437" "0000643233" "0000287438" "0000643234" "0000287439" "0000643235" "0000287440" "0000643236" "0000287441" "0000643237" "0000287442" "0000643238" "0000287443" "0000643239" "0000287444" "0000643240" "0000287445" "0000643241" "0000287446" "0000643242" "0000287447" "0000643243" "0000287448" "0000643244" "0000287449" "0000643245" "0000287450" "0000643246" "0000287451" "0000643247" "0000287452" "0000643248" "0000287453" "0000643249" "0000287454" "0000643250" "0000287455" "0000643251" "0000287456" "0000643252" "0000287457" "0000643253" "0000287458" "0000643254" "0000287459" "0000643255" "0000287460" "0000643256" "0000287461" "0000643257" "0000287462" "0000643258" "0000287463" 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