### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FLNB) # 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}}" "FLNB" "filamin B, beta" "3" "p14.3" "unknown" "NG_012801.1" "UD_132118923491" "" "http://www.LOVD.nl/FLNB" "" "1" "3755" "2317" "603381" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/FLNB_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2010-04-29 00:00:00" "00006" "2016-10-18 21:31:28" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000835" "FLNB" "transcript variant 2" "002" "NM_001457.3" "" "NP_001448.2" "" "" "" "-165" "9302" "7809" "57994127" "58157982" "00000" "2012-09-13 12:54:49" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00339" "LRS" "Larsen syndrome (LRS)" "AD" "150250" "" "" "" "00006" "2014-03-03 23:30:27" "00006" "2021-12-10 21:51:32" "00578" "SCT" "spondylocarpotarsal synostosis syndrome (SCT)" "AR" "272460" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00579" "AO1" "atelosteogenesis, type I (AO-1)" "AD" "108720" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00580" "AO3" "atelosteogenesis, type III AO-3)" "AD" "108721" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00581" "BOOMD" "dysplasia, Boomerang (BOOMD)" "AD" "112310" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-12-14 16:24:46" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "04184" "stature, short" "stature, short" "" "" "" "" "" "00006" "2015-02-09 15:44:22" "00006" "2015-02-09 15:45:17" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{geneid}}" "{{diseaseid}}" "FLNB" "00139" "FLNB" "00339" "FLNB" "00578" "FLNB" "00579" "FLNB" "00580" "FLNB" "00581" ## Individuals ## Do not remove or alter this header ## ## Count = 192 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00081548" "" "" "" "1" "" "01709" "" "" "F" "no" "" "" "0" "" "" "" "" "00104033" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-743A" "00247335" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247336" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247337" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247339" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247340" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247341" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247342" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247343" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247344" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247345" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247346" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247347" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247348" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247349" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247350" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247351" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247352" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247353" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247354" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247355" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247356" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247357" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247358" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247359" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247360" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247361" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247363" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247364" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247365" "" "" "" "1" "" "00000" "" "22w fetus" "M" "" "" "" "0" "" "" "" "" "00247366" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247367" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247368" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247369" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247370" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247371" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247372" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247373" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247375" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247376" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247377" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247378" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247379" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247380" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247381" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247382" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247383" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247384" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247385" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247386" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247387" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247388" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247389" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247390" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247391" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247392" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247393" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247394" "" "" "" "13" "" "00000" "" "large family, 13 affecteds" "" "" "" "" "0" "" "" "" "" "00247395" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247396" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247397" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247398" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247399" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247400" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247401" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247402" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247403" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247404" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247405" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247406" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247407" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247408" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247409" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247410" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247411" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247412" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247413" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247414" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247415" "" "" "" "1" "" "03035" "" "Mosaic mutation" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00247416" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247417" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247418" "" "" "" "1" "" "00000" "" "17w fetus" "M" "" "" "" "0" "" "" "" "" "00247419" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247420" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247421" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247422" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247423" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247424" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247425" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247426" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247427" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247428" "" "" "" "1" "" "00000" "" "" "" "yes" "" "" "0" "" "" "" "" "00247429" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247430" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247431" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247432" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247433" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247434" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247435" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247436" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247437" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247438" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247439" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247440" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247441" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247442" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247443" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247444" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247445" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247447" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247448" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247449" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247451" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247452" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247453" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247454" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247455" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247456" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247457" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247458" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247459" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247460" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247461" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247462" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247463" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247464" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247465" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247466" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247467" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247468" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247469" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247470" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247471" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247472" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247473" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247474" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247475" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247477" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247478" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247479" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247480" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247481" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247482" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247483" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247484" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247485" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247486" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247487" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247488" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247489" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247490" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247491" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247492" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247493" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247494" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247495" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247496" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247497" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247498" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247499" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247500" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247501" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247502" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247503" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247504" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247505" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247506" "" "" "" "1" "" "00000" "" "" "" "yes" "" "" "0" "" "" "" "" "00247507" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247509" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247510" "" "" "" "1" "" "00000" "" "" "" "yes" "" "" "0" "" "" "" "" "00247511" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247512" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247513" "" "" "" "1" "" "00000" "" "" "" "yes" "" "" "0" "" "" "" "" "00247514" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247515" "" "" "" "1" "" "02974" "" "" "" "" "" "" "0" "" "" "" "" "00247516" "" "" "" "2" "" "03032" "" "" "F" "no" "Taiwan" "" "0" "" "" "" "" "00267049" "" "" "" "5" "" "03463" "" "" "M" "yes" "Pakistan" "32y" "0" "yes" "No" "Asian" "SYD07 III:1" "00293456" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293457" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293458" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293459" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293461" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00331456" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "no" "" "" "0" "" "" "Arab" "17DG0799" "00408099" "" "" "" "1" "" "00000" "{PMID:Alabdullatif 2017:27717089}" "" "F" "yes" "United Arab Emirates" "" "0" "" "" "" "181" "00449791" "" "" "" "1" "" "04689" "" "" "" "" "" "" "" "" "" "" "" "00449793" "" "" "" "1" "" "04689" "" "" "" "" "" "" "" "" "" "" "" "00462307" "" "" "" "1" "" "00006" "{PMID:Boissel 2017:29261186}" "analysis 101 stillborn fetuses with severe prenatal anoalies" "" "" "Canada" "0d" "0" "" "" "" "051-089-QUI" "00465845" "" "" "" "1" "" "00006" "{PMID:Ranza 2017:28229453}" "patient, no family history" "" "no" "France" "" "0" "" "" "" "Pat1" "00466704" "" "" "" "1" "" "00006" "{PMID:Plachy 2019:30753492}" "" "M" "" "Czech Republic" "" "0" "" "" "" "Pat28" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 192 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00081548" "00339" "00104033" "03381" "00247335" "00579" "00247336" "00579" "00247337" "00579" "00247339" "00339" "00247340" "00339" "00247341" "00339" "00247342" "00339" "00247343" "00339" "00247344" "00339" "00247345" "00579" "00247346" "00339" "00247347" "00580" "00247348" "00339" "00247349" "00580" "00247350" "00339" "00247351" "00580" "00247352" "00339" "00247353" "00339" "00247354" "00579" "00247355" "00579" "00247356" "00580" "00247357" "00580" "00247358" "00580" "00247359" "00580" "00247360" "00580" "00247361" "00579" "00247363" "00579" "00247364" "00579" "00247365" "00581" "00247366" "00581" "00247367" "00579" "00247368" "00579" "00247369" "00579" "00247370" "00579" "00247371" "00579" "00247372" "00579" "00247373" "00579" "00247375" "00579" "00247376" "00579" "00247377" "00579" "00247378" "00339" "00247379" "00339" "00247380" "00580" "00247381" "00580" "00247382" "00579" "00247383" "00580" "00247384" "00000" "00247385" "00198" "00247386" "00579" "00247387" "00579" "00247388" "00580" "00247389" "00581" "00247390" "00579" "00247391" "00579" "00247392" "00579" "00247393" "00339" "00247394" "00339" "00247395" "00580" "00247396" "00580" "00247397" "00339" "00247398" "00339" "00247399" "00339" "00247400" "00339" "00247401" "00339" "00247402" "00339" "00247403" "00339" "00247404" "00339" "00247405" "00339" "00247406" "00339" "00247407" "00339" "00247408" "00339" "00247409" "00339" "00247410" "00339" "00247411" "00339" "00247412" "00339" "00247413" "00339" "00247414" "00339" "00247415" "00339" "00247416" "00339" "00247417" "00339" "00247418" "00581" "00247419" "00581" "00247420" "00339" "00247421" "00339" "00247422" "00339" "00247423" "00339" "00247424" "00339" "00247425" "00580" "00247426" "00339" "00247427" "00339" "00247428" "00578" "00247429" "00578" "00247430" "00578" "00247431" "00578" "00247432" "00578" "00247433" "00578" "00247434" "00580" "00247435" "00580" "00247436" "00580" "00247437" "00580" "00247438" "00578" "00247439" "00578" "00247440" "00578" "00247441" "00339" "00247442" "00339" "00247443" "00339" "00247444" "00339" "00247445" "00339" "00247447" "00339" "00247448" "00339" "00247449" "00339" "00247451" "00339" "00247452" "00339" "00247453" "00339" "00247454" "00579" "00247455" "00579" "00247456" "00579" "00247457" "00579" "00247458" "00339" "00247459" "00339" "00247460" "00339" "00247461" "00339" "00247462" "00339" "00247463" "00339" "00247464" "00339" "00247465" "00339" "00247466" "00339" "00247467" "00580" "00247468" "00579" "00247469" "00339" "00247470" "00339" "00247471" "00339" "00247472" "00198" "00247473" "00580" "00247474" "00580" "00247475" "00580" "00247477" "00339" "00247478" "00339" "00247479" "00339" "00247480" "00339" "00247481" "00339" "00247482" "00339" "00247483" "00339" "00247484" "00339" "00247485" "00339" "00247486" "00580" "00247487" "00339" "00247488" "00339" "00247489" "00339" "00247490" "00339" "00247491" "00339" "00247492" "00339" "00247493" "00339" "00247494" "00339" "00247495" "00339" "00247496" "00580" "00247497" "00580" "00247498" "00580" "00247499" "00339" "00247500" "00339" "00247501" "00580" "00247502" "00579" "00247503" "00339" "00247504" "00339" "00247505" "00339" "00247506" "00578" "00247507" "00339" "00247509" "00578" "00247510" "00578" "00247511" "00578" "00247512" "00578" "00247513" "00578" "00247514" "00578" "00247515" "00339" "00247516" "00578" "00267049" "00578" "00293456" "00198" "00293457" "00198" "00293458" "00198" "00293459" "00198" "00293461" "00198" "00331456" "05517" "00408099" "04214" "00449791" "00578" "00449793" "00578" "00462307" "00198" "00465845" "00198" "00466704" "04184" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 00339, 00578, 00579, 00580, 00581, 01157, 03381, 04184, 04214, 05517 ## Count = 70 "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000061315" "00339" "00081548" "01709" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081967" "03381" "00104033" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "0000186696" "00579" "00247335" "00000" "Unknown" "" "" "" "0d" "" "" "" "" "" "" "" "" "" "0000186697" "00339" "00247341" "02974" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186698" "00339" "00247342" "02974" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186699" "00339" "00247343" "02974" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186700" "00580" "00247349" "00000" "Unknown" "" "" "" "0d" "" "" "" "" "" "" "" "" "" "0000186701" "00580" "00247351" "00000" "Unknown" "" "survived neonatal period" "" "0d" "" "" "" "" "" "" "" "" "" "0000186702" "00339" "00247352" "02974" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186703" "00339" "00247353" "02974" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186704" "00580" "00247356" "02974" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186705" "00580" "00247357" "02974" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186706" "00580" "00247358" "02974" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186707" "00580" "00247359" "02974" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186708" "00579" "00247363" "00000" "Unknown" "" "" "" "6m" "" "" "" "" "" "" "" "" "" "0000186709" "00579" "00247370" "00000" "Unknown" "" "" "" ">8m" "" "" "" "" "" "" "" "" "" "0000186710" "00579" "00247372" "00000" "Unknown" "" "" "" ">7m" "" "" "" "" "" "" "" "" "" "0000186712" "00580" "00247380" "00000" "Unknown" "" "survived neonatal period" "" "0d" "" "" "" "" "" "" "" "" "" "0000186713" "00198" "00247385" "00000" "Unknown" "" "atelosteogenesis" "" "" "" "" "" "" "" "" "" "" "" "0000186714" "00579" "00247390" "00000" "Unknown" "" "" "" ">7m" "" "" "" "" "" "" "" "" "" "0000186715" "00580" "00247395" "00000" "Unknown" "" "survived neonatal period" "" "0d" "" "" "" "" "" "" "" "" "" "0000186716" "00339" "00247399" "02974" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186717" "00339" "00247400" "02974" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186718" "00339" "00247401" "02974" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186719" "00339" "00247402" "02974" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186720" "00339" "00247403" "02974" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186721" "00339" "00247404" "02974" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186722" "00339" "00247405" "02974" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186723" "00339" "00247406" "02974" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186724" "00339" "00247407" "02974" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186725" "00339" "00247408" "02974" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186726" "00339" "00247409" "02974" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186727" "00339" "00247410" "02974" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186728" "00339" "00247411" "02974" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186729" "00339" "00247412" "02974" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186730" "00339" "00247413" "02974" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186731" "00339" "00247415" "03035" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186732" "00578" "00247428" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186733" "00578" "00247429" "02974" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186734" "00578" "00247430" "02974" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186735" "00578" "00247431" "02974" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186736" "00578" "00247432" "02974" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186737" "00578" "00247433" "02974" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186738" "00578" "00247438" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186739" "00578" "00247440" "02974" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186740" "00579" "00247454" "00000" "Unknown" "" "" "" ">4m" "" "" "" "" "" "" "" "" "" "0000186741" "00579" "00247456" "00000" "Unknown" "" "" "" ">10m" "" "" "" "" "" "" "" "" "" "0000186742" "00339" "00247463" "02974" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186743" "00339" "00247464" "02974" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186744" "00580" "00247467" "00000" "Unknown" "" "survived neonatal period" "" "0d" "" "" "" "" "" "" "" "" "" "0000186745" "00198" "00247472" "00000" "Unknown" "" "atelosteogenesis, type I/III" "" ">5m" "" "" "" "" "" "" "" "" "" "0000186746" "00580" "00247474" "00000" "Unknown" "" "survived neonatal period" "" "9m" "" "" "" "" "" "" "" "" "" "0000186747" "00580" "00247486" "00000" "Unknown" "" "survived neonatal period" "" "9m" "" "" "" "" "" "" "" "" "" "0000186748" "00578" "00247506" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186749" "00578" "00247509" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186750" "00578" "00247510" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186751" "00578" "00247512" "02974" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186752" "00578" "00247513" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186753" "00578" "00247514" "02974" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186754" "00578" "00247516" "03032" "Familial" "" "This patient shows some clinical presentation and radiological features of SCT, including multiple synostosis of cervical, thoracic, and lumbar vertebral bodies, carpal fusion, scoliosis, clinodactyly of the fifth fingers, and flat foot. Rib anomalies including rib crowding, malalignment, and uneven size and shape are rarely reported in SCT cases and are noted in this patient. Hearing loss and muscle weakness are present in this patient." "" "" "" "" "" "" "" "" "" "" "" "0000204978" "00578" "00267049" "03463" "Familial, autosomal recessive" "31y" "short stature, short neck, dysmorphic face" "07y01m" "31y" "07y01m" "" "" "" "" "" "SCT" "scoliosis, Lordosis, carpotarsal fusion" "" "0000249648" "05517" "00331456" "00000" "Familial, autosomal dominant" "" "Congenital bilateral hip dislocation, Talipes equinovarus" "" "" "" "" "" "" "" "" "Filamin group and related disorders" "skeletal dysplasia" "" "0000300227" "04214" "00408099" "00000" "Familial, autosomal recessive" "6y" "6 years old female with uncomplicated perinatal course was born with congenital scoliosis. She also had sensorineural hearing loss diagnosed at the age of 3 years and had been using hearing aid. She had speech delay that had been improving after the use of hearing aid. Physical examination showed short stature, underweight, distinctive facial features (upslanting palpebral fissures and broad nasal bridge), excessive dental caries, short fingers, broad thumbs, big toes, clinodactyly, short neck, and limited elbow extension. Skeletal survey showed delayed bone age, bilateral radial head hypoplasia, carpal bones hypoplasia, thoracic scoliosis with hemivertebrae in the mid- thoracic spine, and symmetric shortening of the humeri, femora, tibiae, and fibulae." "" "" "" "" "" "" "" "" "Spondylo- carpotarsal synostosis syndrome" "" "" "0000338936" "00578" "00449791" "04689" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000338937" "00578" "00449793" "04689" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000349806" "00198" "00462307" "00006" "Isolated (sporadic)" "" "22gw-clubfeet, short limbs, large thumbs" "" "" "" "" "" "" "" "" "" "multiple neonatal malformations" "" "0000351294" "00198" "00465845" "00006" "Isolated (sporadic)" "" "see paper; ..., no intrauterine growth retadation; short stature (-6 SD); normal bone age; joint dislocations elbows, knees, hips; hands accessory carpal ossification centers, short broad distal phalanges, spatulate fingers; C3 anomaly, slender humerus, club feet; deafness; flat face, prominent forehead; no intellectual disability" "" "" "" "" "" "" "" "" "" "Larsen syndrome" "" "0000352067" "04184" "00466704" "00006" "Familial, autosomal dominant" "5y" "see paper; ..., small for gestational age, growth hormone deficiency; height SDS-2.62; birth weight SDS-1.4, length SDS-2.22" "" "" "" "" "" "" "" "" "" "short stature" "" ## Screenings ## Do not remove or alter this header ## ## Count = 192 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000081678" "00081548" "1" "01709" "01709" "2016-10-18 15:26:06" "" "" "SEQ-NG-IT" "DNA" "Blood" "" "0000104504" "00104033" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000248440" "00247335" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248441" "00247336" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248442" "00247337" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248444" "00247339" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248445" "00247340" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248446" "00247341" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248447" "00247342" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248448" "00247343" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248449" "00247344" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248450" "00247345" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248451" "00247346" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248452" "00247347" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248453" "00247348" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248454" "00247349" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248455" "00247350" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248456" "00247351" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248457" "00247352" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248458" "00247353" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248459" "00247354" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248460" "00247355" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248461" "00247356" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248462" "00247357" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248463" "00247358" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248464" "00247359" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248465" "00247360" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248466" "00247361" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248468" "00247363" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248469" "00247364" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248470" "00247365" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248471" "00247366" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248472" "00247367" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248473" "00247368" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248474" "00247369" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248475" "00247370" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248476" "00247371" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248477" "00247372" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248478" "00247373" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248480" "00247375" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248481" "00247376" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248482" "00247377" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248483" "00247378" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248484" "00247379" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248485" "00247380" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248486" "00247381" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248487" "00247382" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248488" "00247383" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248489" "00247384" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248490" "00247385" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248491" "00247386" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248492" "00247387" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248493" "00247388" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248494" "00247389" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248495" "00247390" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248496" "00247391" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248497" "00247392" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248498" "00247393" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248499" "00247394" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248500" "00247395" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248501" "00247396" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248502" "00247397" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248503" "00247398" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248504" "00247399" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248505" "00247400" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248506" "00247401" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248507" "00247402" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248508" "00247403" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248509" "00247404" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248510" "00247405" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248511" "00247406" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248512" "00247407" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248513" "00247408" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248514" "00247409" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248515" "00247410" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248516" "00247411" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248517" "00247412" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248518" "00247413" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248519" "00247414" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248520" "00247415" "1" "03035" "03035" "2017-05-04 17:22:09" "03035" "2017-05-05 15:37:10" "SEQ-NG-I" "DNA" "" "" "0000248521" "00247416" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248522" "00247417" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248523" "00247418" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248524" "00247419" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248525" "00247420" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248526" "00247421" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248527" "00247422" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248528" "00247423" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248529" "00247424" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248530" "00247425" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248531" "00247426" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248532" "00247427" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248533" "00247428" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248534" "00247429" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248535" "00247430" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248536" "00247431" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248537" "00247432" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248538" "00247433" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248539" "00247434" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000248540" "00247435" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248541" "00247436" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248542" "00247437" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248543" "00247438" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248544" "00247439" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248545" "00247440" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248546" "00247441" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248547" "00247442" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248548" "00247443" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248549" "00247444" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248550" "00247445" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248552" "00247447" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248553" "00247448" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248554" "00247449" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248556" "00247451" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248557" "00247452" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248558" "00247453" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248559" "00247454" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248560" "00247455" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248561" "00247456" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248562" "00247457" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248563" "00247458" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248564" "00247459" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248565" "00247460" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248566" "00247461" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248567" "00247462" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248568" "00247463" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248569" "00247464" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248570" "00247465" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248571" "00247466" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248572" "00247467" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248573" "00247468" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248574" "00247469" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248575" "00247470" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248576" "00247471" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248577" "00247472" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248578" "00247473" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248579" "00247474" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248580" "00247475" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248582" "00247477" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248583" "00247478" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248584" "00247479" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248585" "00247480" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248586" "00247481" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248587" "00247482" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248588" "00247483" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248589" "00247484" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248590" "00247485" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248591" "00247486" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248592" "00247487" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248593" "00247488" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248594" "00247489" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248595" "00247490" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248596" "00247491" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248597" "00247492" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248598" "00247493" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248599" "00247494" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248600" "00247495" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248601" "00247496" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248602" "00247497" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248603" "00247498" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248604" "00247499" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248605" "00247500" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248606" "00247501" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248607" "00247502" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248608" "00247503" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248609" "00247504" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248610" "00247505" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248611" "00247506" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248612" "00247507" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248614" "00247509" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248615" "00247510" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248616" "00247511" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248617" "00247512" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248618" "00247513" "1" "00000" "00006" "2011-11-01 21:33:28" "" "" "SEQ" "DNA" "" "" "0000248619" "00247514" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248620" "00247515" "1" "02974" "02974" "2011-11-01 22:30:29" "" "" "SEQ" "DNA" "" "" "0000248621" "00247516" "1" "03032" "03032" "2016-12-22 07:59:48" "" "" "SEQ-NG-I" "DNA" "" "" "0000268178" "00267049" "1" "03463" "03463" "2019-11-01 08:11:54" "" "" "SEQ-NG" "DNA" "Blood" "WES" "0000294624" "00293456" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294625" "00293457" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294626" "00293458" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294627" "00293459" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294629" "00293461" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000332675" "00331456" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000409354" "00408099" "1" "00000" "03840" "2022-04-13 19:19:00" "" "" "arraySNP;SEQ" "DNA" "" "" "0000451386" "00449791" "1" "04689" "04689" "2024-05-15 09:48:57" "" "" "SEQ-NG" "DNA" "" "" "0000451387" "00449793" "1" "04689" "04689" "2024-05-15 09:54:20" "" "" "SEQ-NG" "DNA" "" "" "0000463939" "00462307" "1" "00006" "00006" "2025-02-09 09:45:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000467496" "00465845" "1" "00006" "00006" "2025-06-07 14:19:00" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000468368" "00466704" "1" "00006" "00006" "2025-09-23 14:50:33" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 181 "{{screeningid}}" "{{geneid}}" "0000081678" "FLNB" "0000248440" "FLNB" "0000248441" "FLNB" "0000248442" "FLNB" "0000248444" "FLNB" "0000248445" "FLNB" "0000248446" "FLNB" "0000248447" "FLNB" "0000248448" "FLNB" "0000248449" "FLNB" "0000248450" "FLNB" "0000248451" "FLNB" "0000248452" "FLNB" "0000248453" "FLNB" "0000248454" "FLNB" "0000248455" "FLNB" "0000248456" "FLNB" "0000248457" "FLNB" "0000248458" "FLNB" "0000248459" "FLNB" "0000248460" "FLNB" "0000248461" "FLNB" "0000248462" "FLNB" "0000248463" "FLNB" "0000248464" "FLNB" "0000248465" "FLNB" "0000248466" "FLNB" "0000248468" "FLNB" "0000248469" "FLNB" "0000248470" "FLNB" "0000248471" "FLNB" "0000248472" "FLNB" "0000248473" "FLNB" "0000248474" "FLNB" "0000248475" "FLNB" "0000248476" "FLNB" "0000248477" "FLNB" "0000248478" "FLNB" "0000248480" "FLNB" "0000248481" "FLNB" "0000248482" "FLNB" "0000248483" "FLNB" "0000248484" "FLNB" "0000248485" "FLNB" "0000248486" "FLNB" "0000248487" "FLNB" "0000248488" "FLNB" "0000248489" "FLNB" "0000248490" "FLNB" "0000248491" "FLNB" "0000248492" "FLNB" "0000248493" "FLNB" "0000248494" "FLNB" "0000248495" "FLNB" "0000248496" "FLNB" "0000248497" "FLNB" "0000248498" "FLNB" "0000248499" "FLNB" "0000248500" "FLNB" "0000248501" "FLNB" "0000248502" "FLNB" "0000248503" "FLNB" "0000248504" "FLNB" "0000248505" "FLNB" "0000248506" "FLNB" "0000248507" "FLNB" "0000248508" "FLNB" "0000248509" "FLNB" "0000248510" "FLNB" "0000248511" "FLNB" "0000248512" "FLNB" "0000248513" "FLNB" "0000248514" "FLNB" "0000248515" "FLNB" "0000248516" "FLNB" "0000248517" "FLNB" "0000248518" "FLNB" "0000248519" "FLNB" "0000248520" "FLNB" "0000248521" "FLNB" "0000248522" "FLNB" "0000248523" "FLNB" "0000248524" "FLNB" "0000248525" "FLNB" "0000248526" "FLNB" "0000248527" "FLNB" "0000248528" "FLNB" "0000248529" "FLNB" "0000248530" "FLNB" "0000248531" "FLNB" "0000248532" "FLNB" "0000248533" "FLNB" "0000248534" "FLNB" "0000248535" "FLNB" "0000248536" "FLNB" "0000248537" "FLNB" "0000248538" "FLNB" "0000248539" "FLNB" "0000248540" "FLNB" "0000248541" "FLNB" "0000248542" "FLNB" "0000248543" "FLNB" "0000248544" "FLNB" "0000248545" "FLNB" "0000248546" "FLNB" "0000248547" "FLNB" "0000248548" "FLNB" "0000248549" "FLNB" "0000248550" "FLNB" "0000248552" "FLNB" "0000248553" "FLNB" "0000248554" "FLNB" "0000248556" "FLNB" "0000248557" "FLNB" "0000248558" "FLNB" "0000248559" "FLNB" "0000248560" "FLNB" "0000248561" "FLNB" "0000248562" "FLNB" "0000248563" "FLNB" "0000248564" "FLNB" "0000248565" "FLNB" "0000248566" "FLNB" "0000248567" "FLNB" "0000248568" "FLNB" "0000248569" "FLNB" "0000248570" "FLNB" "0000248571" "FLNB" "0000248572" "FLNB" "0000248573" "FLNB" "0000248574" "FLNB" "0000248575" "FLNB" "0000248576" "FLNB" "0000248577" "FLNB" "0000248578" "FLNB" "0000248579" "FLNB" "0000248580" "FLNB" "0000248582" "FLNB" "0000248583" "FLNB" "0000248584" "FLNB" "0000248585" "FLNB" "0000248586" "FLNB" "0000248587" "FLNB" "0000248588" "FLNB" "0000248589" "FLNB" "0000248590" "FLNB" "0000248591" "FLNB" "0000248592" "FLNB" "0000248593" "FLNB" "0000248594" "FLNB" "0000248595" "FLNB" "0000248596" "FLNB" "0000248597" "FLNB" "0000248598" "FLNB" "0000248599" "FLNB" "0000248600" "FLNB" "0000248601" "FLNB" "0000248602" "FLNB" "0000248603" "FLNB" "0000248604" "FLNB" "0000248605" "FLNB" "0000248606" "FLNB" "0000248607" "FLNB" "0000248608" "FLNB" "0000248609" "FLNB" "0000248610" "FLNB" "0000248611" "FLNB" "0000248612" "FLNB" "0000248614" "FLNB" "0000248615" "FLNB" "0000248616" "FLNB" "0000248617" "FLNB" "0000248618" "FLNB" "0000248619" "FLNB" "0000248620" "FLNB" "0000248621" "FLNB" "0000268178" "FLNB" "0000332675" "FLNB" "0000409354" "FLNB" "0000451386" "FLNB" "0000451387" "FLNB" ## 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 = 549 "{{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}}" "0000003872" "0" "30" "3" "57994719" "57994719" "subst" "0" "00037" "FLNB_000092" "g.57994719T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58008992T>A" "" "likely benign" "" "0000003873" "0" "30" "3" "58145263" "58145263" "subst" "0.670655" "00037" "FLNB_000094" "g.58145263G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58159536G>A" "" "likely benign" "" "0000011854" "0" "30" "3" "57994197" "57994197" "subst" "0" "00037" "FLNB_000091" "g.57994197C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58008470C>G" "" "likely benign" "" "0000011855" "0" "30" "3" "57994719" "57994719" "subst" "0" "00037" "FLNB_000092" "g.57994719T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58008992T>A" "" "likely benign" "" "0000011856" "3" "30" "3" "58145263" "58145263" "subst" "0.670655" "00037" "FLNB_000171" "g.58145263G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58159536G>A" "" "likely benign" "" "0000132352" "0" "70" "3" "58083645" "58083645" "subst" "0" "01709" "FLNB_000093" "g.58083645G>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.58097918G>T" "" "likely pathogenic" "" "0000169414" "0" "70" "3" "58148979" "58148979" "subst" "4.06088E-5" "00587" "FLNB_000095" "g.58148979C>T" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_001164317.1(FLNB):c.7213C>T p.(Arg2405Cys)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.58163252C>T" "" "likely pathogenic" "" "0000248299" "0" "10" "3" "58112440" "58112440" "subst" "0.704891" "02325" "FLNB_000134" "g.58112440A>G" "" "" "" "FLNB(NM_001164317.2):c.4173A>G (p.A1391=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58126713A>G" "" "benign" "" "0000249982" "0" "30" "3" "58080583" "58080583" "subst" "0.000747548" "02329" "FLNB_000102" "g.58080583A>G" "" "" "" "FLNB(NM_001164317.1):c.808A>G (p.M270V, p.(Met270Val)), FLNB(NM_001164317.2):c.808A>G (p.M270V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58094856A>G" "" "likely benign" "" "0000250011" "0" "10" "3" "58109453" "58109453" "del" "0" "02329" "FLNB_000123" "g.58109453del" "" "" "" "FLNB(NM_001164317.2):c.3724+36delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58123726del" "" "benign" "" "0000250034" "0" "10" "3" "58112440" "58112440" "subst" "0.704891" "02329" "FLNB_000134" "g.58112440A>G" "" "" "" "FLNB(NM_001164317.2):c.4173A>G (p.A1391=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58126713A>G" "" "benign" "" "0000250151" "0" "10" "3" "58134505" "58134505" "subst" "0.0100041" "02329" "FLNB_000150" "g.58134505A>G" "" "" "" "FLNB(NM_001164317.1):c.6110A>G (p.(Lys2037Arg)), FLNB(NM_001164317.2):c.6110A>G (p.K2037R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58148778A>G" "" "benign" "" "0000250196" "0" "10" "3" "58112497" "58112497" "subst" "0.00338281" "02329" "FLNB_000169" "g.58112497A>G" "" "" "" "FLNB(NM_001164317.1):c.4222+8A>G (p.(=)), FLNB(NM_001164317.2):c.4222+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58126770A>G" "" "benign" "" "0000250871" "0" "10" "3" "58109453" "58109453" "del" "0" "02326" "FLNB_000123" "g.58109453del" "" "" "" "FLNB(NM_001164317.2):c.3724+36delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58123726del" "" "benign" "" "0000254073" "0" "30" "3" "58080583" "58080583" "subst" "0.000747548" "01943" "FLNB_000102" "g.58080583A>G" "" "" "" "FLNB(NM_001164317.1):c.808A>G (p.M270V, p.(Met270Val)), FLNB(NM_001164317.2):c.808A>G (p.M270V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58094856A>G" "" "likely benign" "" "0000280831" "0" "10" "3" "58145263" "58145263" "subst" "0.670655" "02325" "FLNB_000171" "g.58145263G>A" "" "" "" "FLNB(NM_001164317.2):c.6982-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58159536G>A" "" "benign" "" "0000280832" "0" "30" "3" "58145348" "58145348" "subst" "0.00742174" "02325" "FLNB_000164" "g.58145348T>C" "" "" "" "FLNB(NM_001164317.1):c.7049T>C (p.(Ile2350Thr)), FLNB(NM_001164317.2):c.7049T>C (p.I2350T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58159621T>C" "" "likely benign" "" "0000283267" "0" "30" "3" "58084493" "58084493" "subst" "0.000113821" "02329" "FLNB_000104" "g.58084493C>T" "" "" "" "FLNB(NM_001164317.1):c.1203C>T (p.T401=), FLNB(NM_001164317.2):c.1203C>T (p.T401=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58098766C>T" "" "likely benign" "" "0000283268" "0" "10" "3" "58090803" "58090803" "subst" "0.0444777" "02329" "FLNB_000106" "g.58090803G>A" "" "" "" "FLNB(NM_001164317.2):c.1611-4G>A, FLNB(NM_001457.4):c.1611-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58105076G>A" "" "benign" "" "0000283269" "0" "10" "3" "58092528" "58092528" "subst" "0.0359523" "02329" "FLNB_000108" "g.58092528C>T" "" "" "" "FLNB(NM_001164317.2):c.1869C>T (p.D623=), FLNB(NM_001457.4):c.1869C>T (p.(Asp623=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58106801C>T" "" "benign" "" "0000283270" "0" "30" "3" "58094241" "58094241" "subst" "0.00075544" "02329" "FLNB_000109" "g.58094241C>T" "" "" "" "FLNB(NM_001164317.2):c.1998C>T (p.A666=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58108514C>T" "" "likely benign" "" "0000283271" "0" "30" "3" "58094909" "58094909" "subst" "9.34655E-5" "02329" "FLNB_000110" "g.58094909G>A" "" "" "" "FLNB(NM_001164317.1):c.2059G>A (p.G687R, p.(Gly687Arg)), FLNB(NM_001164317.2):c.2059G>A (p.G687R), FLNB(NM_001457.4):c.2059G>A (p.G687R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58109182G>A" "" "likely benign" "" "0000283272" "0" "30" "3" "58095866" "58095866" "subst" "0.000901523" "02329" "FLNB_000112" "g.58095866G>A" "" "" "" "FLNB(NM_001164317.1):c.2453G>A (p.R818Q), FLNB(NM_001164317.2):c.2453G>A (p.R818Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58110139G>A" "" "likely benign" "" "0000283273" "0" "30" "3" "58097526" "58097526" "subst" "0.00146648" "02329" "FLNB_000113" "g.58097526C>T" "" "" "" "FLNB(NM_001164317.1):c.2493C>T (p.P831=), FLNB(NM_001164317.2):c.2493C>T (p.P831=), FLNB(NM_001457.4):c.2493C>T (p.(Pro831=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58111799C>T" "" "likely benign" "" "0000283274" "0" "30" "3" "58097937" "58097937" "subst" "0.000109743" "02329" "FLNB_000114" "g.58097937G>C" "" "" "" "FLNB(NM_001164317.2):c.2637G>C (p.P879=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58112210G>C" "" "likely benign" "" "0000283275" "0" "30" "3" "57994595" "57994595" "subst" "0.000790514" "02329" "FLNB_000096" "g.57994595G>C" "" "" "" "FLNB(NM_001164317.2):c.292+12G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58008868G>C" "" "likely benign" "" "0000283276" "0" "30" "3" "57994597" "57994597" "subst" "0.00256069" "02329" "FLNB_000097" "g.57994597C>G" "" "" "" "FLNB(NM_001164317.2):c.292+14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58008870C>G" "" "likely benign" "" "0000283277" "0" "10" "3" "58109162" "58109162" "subst" "0.374856" "02329" "FLNB_000121" "g.58109162G>A" "" "" "" "FLNB(NM_001164317.2):c.3469G>A (p.D1157N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58123435G>A" "" "benign" "" "0000283278" "0" "10" "3" "58109452" "58109453" "del" "0" "02329" "FLNB_000124" "g.58109452_58109453del" "" "" "" "FLNB(NM_001164317.2):c.3724+35_3724+36delAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58123725_58123726del" "" "benign" "" "0000283279" "0" "10" "3" "58109453" "58109453" "dup" "0" "02329" "FLNB_000122" "g.58109453dup" "" "" "" "FLNB(NM_001164317.2):c.3724+36dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58123726dup" "" "benign" "" "0000283280" "0" "10" "3" "58109451" "58109453" "del" "0" "02329" "FLNB_000125" "g.58109451_58109453del" "" "" "" "FLNB(NM_001164317.2):c.3724+34_3724+36delAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58123724_58123726del" "" "benign" "" "0000283283" "0" "10" "3" "58110105" "58110105" "subst" "0.00673278" "02329" "FLNB_000128" "g.58110105G>A" "" "" "" "FLNB(NM_001164317.2):c.3771G>A (p.P1257=), FLNB(NM_001457.4):c.3771G>A (p.(Pro1257=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58124378G>A" "" "benign" "" "0000283284" "0" "10" "3" "58110191" "58110191" "subst" "0.00711849" "02329" "FLNB_000130" "g.58110191C>T" "" "" "" "FLNB(NM_001164317.2):c.3857C>T (p.A1286V), FLNB(NM_001457.4):c.3857C>T (p.(Ala1286Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58124464C>T" "" "benign" "" "0000283285" "0" "10" "3" "58112488" "58112488" "subst" "0.404554" "02329" "FLNB_000135" "g.58112488C>T" "" "" "" "FLNB(NM_001164317.2):c.4221C>T (p.P1407=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58126761C>T" "" "benign" "" "0000283286" "0" "10" "3" "58117664" "58117664" "subst" "0.0647684" "02329" "FLNB_000137" "g.58117664G>A" "" "" "" "FLNB(NM_001164317.2):c.4401G>A (p.T1467=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58131937G>A" "" "benign" "" "0000283287" "0" "10" "3" "58117724" "58117724" "subst" "0.0666934" "02329" "FLNB_000138" "g.58117724G>A" "" "" "" "FLNB(NM_001164317.2):c.4461G>A (p.P1487=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58131997G>A" "" "benign" "" "0000283288" "0" "10" "3" "58118555" "58118555" "subst" "0.393889" "02329" "FLNB_000139" "g.58118555G>A" "" "" "" "FLNB(NM_001164317.2):c.4504G>A (p.V1502M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58132828G>A" "" "benign" "" "0000283289" "0" "10" "3" "58120510" "58120510" "subst" "0.00493861" "02329" "FLNB_000140" "g.58120510G>A" "" "" "" "FLNB(NM_001164317.2):c.4764+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58134783G>A" "" "benign" "" "0000283290" "0" "10" "3" "58124019" "58124019" "subst" "0.00405816" "02329" "FLNB_000141" "g.58124019C>T" "" "" "" "FLNB(NM_001164317.1):c.4965C>T (p.I1655=), FLNB(NM_001164317.2):c.4965C>T (p.I1655=), FLNB(NM_001457.4):c.4872C>T (p.(Ile1624=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58138292C>T" "" "benign" "" "0000283291" "0" "10" "3" "58124076" "58124076" "subst" "0.00113312" "02329" "FLNB_000143" "g.58124076C>T" "" "" "" "FLNB(NM_001164317.1):c.5022C>T (p.A1674=), FLNB(NM_001164317.2):c.5022C>T (p.A1674=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58138349C>T" "" "benign" "" "0000283292" "0" "10" "3" "58131638" "58131638" "subst" "0.00672482" "02329" "FLNB_000146" "g.58131638G>A" "" "" "" "FLNB(NM_001164317.2):c.5519-10G>A, FLNB(NM_001457.4):c.5426-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58145911G>A" "" "benign" "" "0000283293" "0" "30" "3" "58134516" "58134516" "subst" "0.00021966" "02329" "FLNB_000151" "g.58134516C>T" "" "" "" "FLNB(NM_001164317.2):c.6121C>T (p.R2041C), FLNB(NM_001457.3):c.6028C>T (p.(Arg2010Cys)), FLNB(NM_001457.4):c.6028C>T (p.R2010C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58148789C>T" "" "likely benign" "" "0000283294" "0" "30" "3" "58140525" "58140525" "subst" "0.00148213" "02329" "FLNB_000158" "g.58140525C>T" "" "" "" "FLNB(NM_001164317.1):c.6735C>T (p.F2245=), FLNB(NM_001164317.2):c.6735C>T (p.F2245=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58154798C>T" "" "likely benign" "" "0000283295" "0" "30" "3" "58140567" "58140567" "subst" "0.00152274" "02329" "FLNB_000161" "g.58140567C>T" "" "" "" "FLNB(NM_001164317.1):c.6777C>T (p.I2259=), FLNB(NM_001164317.2):c.6777C>T (p.I2259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58154840C>T" "" "likely benign" "" "0000283296" "0" "30" "3" "58140624" "58140624" "subst" "0.00139689" "02329" "FLNB_000162" "g.58140624G>A" "" "" "" "FLNB(NM_001164317.1):c.6834G>A (p.S2278=), FLNB(NM_001164317.2):c.6834G>A (p.S2278=), FLNB(NM_001457.4):c.6741G>A (p.(Ser2247=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58154897G>A" "" "likely benign" "" "0000283297" "0" "10" "3" "58145263" "58145263" "subst" "0.670655" "02329" "FLNB_000171" "g.58145263G>A" "" "" "" "FLNB(NM_001164317.2):c.6982-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58159536G>A" "" "benign" "" "0000283298" "0" "10" "3" "58145348" "58145348" "subst" "0.00742174" "02329" "FLNB_000164" "g.58145348T>C" "" "" "" "FLNB(NM_001164317.1):c.7049T>C (p.(Ile2350Thr)), FLNB(NM_001164317.2):c.7049T>C (p.I2350T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58159621T>C" "" "benign" "" "0000283299" "0" "10" "3" "58154177" "58154177" "subst" "0.0896384" "02329" "FLNB_000165" "g.58154177G>A" "" "" "" "FLNB(NM_001164317.2):c.7302G>A (p.S2434=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58168450G>A" "" "benign" "" "0000283300" "0" "10" "3" "58154327" "58154327" "subst" "0.384213" "02329" "FLNB_000166" "g.58154327C>T" "" "" "" "FLNB(NM_001164317.2):c.7452C>T (p.S2484=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58168600C>T" "" "benign" "" "0000283301" "0" "30" "3" "58156444" "58156444" "subst" "0" "02329" "FLNB_000167" "g.58156444G>A" "" "" "" "FLNB(NM_001164317.2):c.7857G>A (p.G2619=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58170717G>A" "" "likely benign" "" "0000283302" "0" "10" "3" "58080567" "58080567" "subst" "0.006802" "02329" "FLNB_000101" "g.58080567C>T" "" "" "" "FLNB(NM_001164317.2):c.792C>T (p.I264=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58094840C>T" "" "benign" "" "0000283303" "0" "10" "3" "58081888" "58081888" "subst" "0.466826" "02329" "FLNB_000103" "g.58081888T>C" "" "" "" "FLNB(NM_001164317.2):c.927T>C (p.S309=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58096161T>C" "" "benign" "" "0000283990" "0" "70" "3" "58062982" "58062982" "subst" "0" "02326" "FLNB_000099" "g.58062982G>A" "" "" "" "FLNB(NM_001164317.2):c.502G>A (p.G168S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58077255G>A" "" "likely pathogenic" "" "0000287747" "0" "50" "3" "58089761" "58089761" "subst" "0.00235544" "01943" "FLNB_000105" "g.58089761C>T" "" "" "" "FLNB(NM_001164317.1):c.1559C>T (p.P520L, p.(Pro520Leu)), FLNB(NM_001164317.2):c.1559C>T (p.P520L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58104034C>T" "" "VUS" "" "0000287748" "0" "30" "3" "58107182" "58107182" "subst" "0.00104421" "01943" "FLNB_000116" "g.58107182C>T" "" "" "" "FLNB(NM_001164317.1):c.3078C>T (p.P1026=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58121455C>T" "" "likely benign" "" "0000287750" "0" "10" "3" "58108957" "58108957" "subst" "0.00113763" "01943" "FLNB_000119" "g.58108957C>T" "" "" "" "FLNB(NM_001164317.1):c.3264C>T (p.S1088=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58123230C>T" "" "benign" "" "0000287751" "0" "30" "3" "58124019" "58124019" "subst" "0.00405816" "01943" "FLNB_000141" "g.58124019C>T" "" "" "" "FLNB(NM_001164317.1):c.4965C>T (p.I1655=), FLNB(NM_001164317.2):c.4965C>T (p.I1655=), FLNB(NM_001457.4):c.4872C>T (p.(Ile1624=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58138292C>T" "" "likely benign" "" "0000287752" "0" "50" "3" "58124126" "58124126" "subst" "0" "01943" "FLNB_000144" "g.58124126C>G" "" "" "" "FLNB(NM_001164317.1):c.5072C>G (p.A1691G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58138399C>G" "" "VUS" "" "0000287753" "0" "50" "3" "58132706" "58132706" "subst" "1.21912E-5" "01943" "FLNB_000147" "g.58132706C>T" "" "" "" "FLNB(NM_001164317.1):c.5807C>T (p.T1936I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58146979C>T" "" "VUS" "" "0000287754" "0" "30" "3" "58135716" "58135716" "subst" "0.00256221" "01943" "FLNB_000153" "g.58135716C>T" "" "" "" "FLNB(NM_001164317.1):c.6324C>T (p.D2108=), FLNB(NM_001164317.2):c.6324C>T (p.D2108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58149989C>T" "" "likely benign" "" "0000287755" "0" "50" "3" "58139224" "58139224" "subst" "6.49815E-5" "01943" "FLNB_000155" "g.58139224G>A" "" "" "" "FLNB(NM_001164317.1):c.6583G>A (p.V2195M), FLNB(NM_001457.4):c.6490G>A (p.V2164M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58153497G>A" "" "VUS" "" "0000329467" "0" "30" "3" "58062842" "58062842" "subst" "0.000581121" "01804" "FLNB_000098" "g.58062842A>T" "" "" "" "FLNB(NM_001457.4):c.362A>T (p.(Tyr121Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58077115A>T" "" "likely benign" "" "0000329468" "0" "50" "3" "58090893" "58090893" "subst" "0.000678228" "01804" "FLNB_000107" "g.58090893G>A" "" "" "" "FLNB(NM_001164317.1):c.1697G>A (p.R566Q, p.(Arg566Gln)), FLNB(NM_001164317.2):c.1697G>A (p.R566Q), FLNB(NM_001457.4):c.1697G>A (p.R566Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58105166G>A" "" "VUS" "" "0000329470" "0" "50" "3" "58097998" "58097998" "subst" "4.06894E-6" "01804" "FLNB_000115" "g.58097998G>A" "" "" "" "FLNB(NM_001164317.1):c.2698G>A (p.(Asp900Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58112271G>A" "" "VUS" "" "0000329472" "0" "30" "3" "58109123" "58109123" "subst" "0.000523977" "01804" "FLNB_000120" "g.58109123G>C" "" "" "" "FLNB(NM_001164317.1):c.3430G>C (p.E1144Q), FLNB(NM_001457.4):c.3430G>C (p.(Glu1144Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58123396G>C" "" "likely benign" "" "0000329473" "0" "50" "3" "58110126" "58110126" "subst" "2.84245E-5" "01804" "FLNB_000129" "g.58110126C>A" "" "" "" "FLNB(NM_001164317.1):c.3792C>A (p.(Asp1264Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58124399C>A" "" "VUS" "" "0000329474" "0" "50" "3" "58110207" "58110207" "subst" "0.000337042" "01804" "FLNB_000131" "g.58110207G>C" "" "" "" "FLNB(NM_001164317.1):c.3873G>C (p.(Gln1291His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58124480G>C" "" "VUS" "" "0000329477" "0" "50" "3" "58116619" "58116619" "subst" "0" "01804" "FLNB_000136" "g.58116619G>T" "" "" "" "FLNB(NM_001164317.1):c.4374G>T (p.(Arg1458Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58130892G>T" "" "VUS" "" "0000329478" "0" "50" "3" "58124050" "58124050" "subst" "0.000125939" "01804" "FLNB_000142" "g.58124050G>A" "" "" "" "FLNB(NM_001164317.1):c.4996G>A (p.G1666S, p.(Gly1666Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58138323G>A" "" "VUS" "" "0000329479" "0" "50" "3" "58129247" "58129247" "subst" "1.21832E-5" "01804" "FLNB_000145" "g.58129247G>A" "" "" "" "FLNB(NM_001164317.1):c.5425G>A (p.(Asp1809Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58143520G>A" "" "VUS" "" "0000329480" "0" "30" "3" "58133989" "58133989" "subst" "0.00208802" "01804" "FLNB_000148" "g.58133989G>A" "" "" "" "FLNB(NM_001164317.1):c.5878G>A (p.(Asp1960Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58148262G>A" "" "likely benign" "" "0000329481" "0" "50" "3" "58134020" "58134020" "subst" "0.000300823" "01804" "FLNB_000149" "g.58134020C>T" "" "" "" "FLNB(NM_001164317.1):c.5909C>T (p.T1970M, p.(Thr1970Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58148293C>T" "" "VUS" "" "0000329482" "0" "50" "3" "58134543" "58134543" "subst" "1.22378E-5" "01804" "FLNB_000152" "g.58134543G>A" "" "" "" "FLNB(NM_001164317.1):c.6148G>A (p.(Glu2050Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58148816G>A" "" "VUS" "" "0000329483" "0" "50" "3" "58135723" "58135723" "subst" "8.1211E-6" "01804" "FLNB_000154" "g.58135723G>A" "" "" "" "FLNB(NM_001457.3):c.6238G>A (p.(Val2080Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58149996G>A" "" "VUS" "" "0000329484" "0" "50" "3" "58139311" "58139311" "subst" "0" "01804" "FLNB_000156" "g.58139311G>T" "" "" "" "FLNB(NM_001164317.1):c.6670G>T (p.(Ala2224Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58153584G>T" "" "VUS" "" "0000329485" "0" "50" "3" "58139353" "58139353" "subst" "4.07468E-6" "01804" "FLNB_000157" "g.58139353G>A" "" "" "" "FLNB(NM_001457.3):c.6619G>A (p.(Glu2207Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58153626G>A" "" "VUS" "" "0000329486" "0" "50" "3" "58140539" "58140539" "subst" "4.06068E-6" "01804" "FLNB_000159" "g.58140539G>A" "" "" "" "FLNB(NM_001164317.1):c.6749G>A (p.(Arg2250Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58154812G>A" "" "VUS" "" "0000329487" "0" "30" "3" "58140563" "58140563" "subst" "0.00129941" "01804" "FLNB_000160" "g.58140563C>G" "" "" "" "FLNB(NM_001164317.1):c.6773C>G (p.(Ser2258Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58154836C>G" "" "likely benign" "" "0000329488" "0" "50" "3" "58145285" "58145285" "subst" "4.06167E-6" "01804" "FLNB_000163" "g.58145285C>T" "" "" "" "FLNB(NM_001164317.1):c.6986C>T (p.(Ser2329Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58159558C>T" "" "VUS" "" "0000345813" "0" "90" "3" "58131722" "58131722" "subst" "0" "02327" "FLNB_000168" "g.58131722G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58145995G>A" "" "pathogenic" "" "0000473817" "0" "70" "3" "58110103" "58110103" "subst" "0" "01709" "FLNB_000170" "g.58110103C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.58124376C>T" "" "likely pathogenic" "" "0000501354" "1" "95" "3" "58062922" "58062922" "subst" "0" "00000" "FLNB_000021" "g.58062922T>A" "" "{PMID:Farrington-Rock 2006:16752402}" "" "" "" "Unknown" "" "" "0" "" "" "g.58077195T>A" "" "pathogenic" "" "0000501355" "1" "95" "3" "58062922" "58062922" "subst" "0" "02974" "FLNB_000021" "g.58062922T>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58077195T>A" "" "pathogenic" "" "0000501356" "1" "95" "3" "58062927" "58062938" "del" "0" "02974" "FLNB_000071" "g.58062927_58062938del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.58077200_58077211del" "" "pathogenic" "" "0000501358" "1" "95" "3" "58062962" "58062962" "subst" "0" "00000" "FLNB_000004" "g.58062962T>G" "" "{PMID:Krakow 2004:14991055}, {OMIM603381:0004}" "" "" "" "De novo" "" "" "0" "" "" "g.58077235T>G" "" "pathogenic" "" "0000501359" "1" "95" "3" "58062962" "58062962" "subst" "0" "00000" "FLNB_000004" "g.58062962T>G" "" "{PMID:Krakow 2004:14991055}" "" "" "" "Unknown" "" "" "0" "" "" "g.58077235T>G" "" "pathogenic" "" "0000501360" "1" "95" "3" "58062962" "58062962" "subst" "0" "02974" "FLNB_000004" "g.58062962T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58077235T>G" "" "pathogenic" "" "0000501361" "1" "95" "3" "58062962" "58062962" "subst" "0" "02974" "FLNB_000004" "g.58062962T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58077235T>G" "" "pathogenic" "" "0000501362" "1" "95" "3" "58062962" "58062962" "subst" "0" "02974" "FLNB_000004" "g.58062962T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58077235T>G" "" "pathogenic" "" "0000501363" "1" "95" "3" "58062968" "58062968" "subst" "0" "02974" "FLNB_000056" "g.58062968A>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58077241A>C" "" "pathogenic" "" "0000501364" "1" "95" "3" "58062975" "58062975" "subst" "0" "02974" "FLNB_000073" "g.58062975G>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.58077248G>T" "" "pathogenic" "" "0000501365" "1" "95" "3" "58062980" "58062980" "subst" "0" "02974" "FLNB_000058" "g.58062980A>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.58077253A>G" "" "pathogenic" "" "0000501366" "1" "95" "3" "58062980" "58062980" "subst" "0" "02974" "FLNB_000081" "g.58062980A>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.58077253A>T" "" "pathogenic" "" "0000501367" "1" "95" "3" "58062981" "58062981" "subst" "0" "02974" "FLNB_000059" "g.58062981C>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.58077254C>A" "" "pathogenic" "" "0000501368" "1" "95" "3" "58062982" "58062982" "subst" "0" "00000" "FLNB_000022" "g.58062982G>A" "" "{PMID:Farrington-Rock 2006:16752402}" "" "" "" "Unknown" "" "" "0" "" "" "g.58077255G>A" "" "pathogenic" "" "0000501369" "1" "95" "3" "58062982" "58062982" "subst" "0" "00000" "FLNB_000022" "g.58062982G>A" "" "{PMID:Bicknell 2007:16801345}" "" "" "" "Unknown" "" "" "0" "" "" "g.58077255G>A" "" "pathogenic" "" "0000501370" "1" "95" "3" "58062982" "58062982" "subst" "0" "00000" "FLNB_000022" "g.58062982G>A" "" "{PMID:Farrington-Rock 2006:16752402}" "" "" "" "Unknown" "" "" "0" "" "" "g.58077255G>A" "" "pathogenic" "" "0000501371" "1" "95" "3" "58062982" "58062982" "subst" "0" "02974" "FLNB_000022" "g.58062982G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58077255G>A" "" "pathogenic" "" "0000501372" "1" "95" "3" "58062982" "58062982" "subst" "0" "02974" "FLNB_000022" "g.58062982G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58077255G>A" "" "pathogenic" "" "0000501373" "1" "95" "3" "58062982" "58062982" "subst" "0" "02974" "FLNB_000022" "g.58062982G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.58077255G>A" "" "pathogenic" "" "0000501374" "1" "95" "3" "58062982" "58062982" "subst" "0" "02974" "FLNB_000022" "g.58062982G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.58077255G>A" "" "pathogenic" "" "0000501375" "1" "95" "3" "58062982" "58062982" "subst" "0" "02974" "FLNB_000022" "g.58062982G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58077255G>A" "" "pathogenic" "" "0000501376" "1" "95" "3" "58062982" "58062982" "subst" "0" "02974" "FLNB_000022" "g.58062982G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58077255G>A" "" "pathogenic" "" "0000501377" "1" "95" "3" "58062982" "58062982" "subst" "0" "02974" "FLNB_000022" "g.58062982G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58077255G>A" "" "pathogenic" "" "0000501378" "1" "95" "3" "58062982" "58062982" "subst" "0" "02974" "FLNB_000022" "g.58062982G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58077255G>A" "" "pathogenic" "" "0000501379" "1" "95" "3" "58062982" "58062982" "subst" "0" "02974" "FLNB_000082" "g.58062982G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58077255G>T" "" "pathogenic" "" "0000501380" "1" "95" "3" "58062983" "58062983" "subst" "0" "02974" "FLNB_000074" "g.58062983G>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.58077256G>T" "" "pathogenic" "" "0000501382" "1" "95" "3" "58062992" "58062992" "subst" "0" "00000" "FLNB_000023" "g.58062992T>A" "" "{PMID:Farrington-Rock 2006:16752402}" "" "" "" "Unknown" "" "" "0" "" "" "g.58077265T>A" "" "pathogenic" "" "0000501383" "1" "95" "3" "58062992" "58062992" "subst" "0" "02974" "FLNB_000023" "g.58062992T>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58077265T>A" "" "pathogenic" "" "0000501384" "1" "95" "3" "58062992" "58062992" "subst" "0" "00000" "FLNB_000015" "g.58062992T>G" "" "{PMID:Bicknell 2005:15994868}, {OMIM603381:0009}" "" "" "" "Unknown" "" "" "0" "" "" "g.58077265T>G" "" "pathogenic" "" "0000501385" "1" "95" "3" "58062992" "58062992" "subst" "0" "02974" "FLNB_000015" "g.58062992T>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.58077265T>G" "" "pathogenic" "" "0000501386" "1" "95" "3" "58062998" "58062998" "subst" "0" "00000" "FLNB_000006" "g.58062998C>T" "" "{PMID:Krakow 2004:14991055}, {OMIM603381:0006}" "" "" "" "Unknown" "" "" "0" "" "" "g.58077271C>T" "" "pathogenic" "" "0000501387" "1" "95" "3" "58062998" "58062998" "subst" "0" "00000" "FLNB_000006" "g.58062998C>T" "" "{PMID:Krakow 2004:14991055}" "" "" "" "Unknown" "" "" "0" "" "" "g.58077271C>T" "" "pathogenic" "" "0000501388" "1" "95" "3" "58062998" "58062998" "subst" "0" "02974" "FLNB_000006" "g.58062998C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58077271C>T" "" "pathogenic" "" "0000501389" "1" "95" "3" "58064444" "58064444" "subst" "0" "00000" "FLNB_000028" "g.58064444G>T" "" "{PMID:Farrington-Rock 2006:16752402}" "" "" "" "Unknown" "" "" "0" "" "" "g.58078717G>T" "" "pathogenic" "" "0000501390" "1" "95" "3" "58064444" "58064444" "subst" "0" "02974" "FLNB_000028" "g.58064444G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58078717G>T" "" "pathogenic" "" "0000501391" "1" "95" "3" "58064451" "58064451" "subst" "0" "00000" "FLNB_000029" "g.58064451C>G" "" "{PMID:Farrington-Rock 2006:16752402}" "" "" "" "Unknown" "" "" "0" "" "" "g.58078724C>G" "" "pathogenic" "" "0000501392" "1" "95" "3" "58064451" "58064451" "subst" "0" "02974" "FLNB_000029" "g.58064451C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58078724C>G" "" "pathogenic" "" "0000501394" "1" "95" "3" "58064464" "58064464" "subst" "0" "02974" "FLNB_000011" "g.58064464T>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.58078737T>C" "" "pathogenic" "" "0000501395" "1" "95" "3" "58064467" "58064467" "subst" "0" "02974" "FLNB_000076" "g.58064467T>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.58078740T>C" "" "pathogenic" "" "0000501396" "1" "95" "3" "58064467" "58064467" "subst" "0" "02974" "FLNB_000077" "g.58064467T>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58078740T>G" "" "pathogenic" "" "0000501397" "1" "95" "3" "58064474" "58064474" "subst" "0" "02974" "FLNB_000064" "g.58064474C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.58078747C>T" "" "pathogenic" "" "0000501398" "1" "95" "3" "58064492" "58064492" "subst" "0" "02974" "FLNB_000065" "g.58064492A>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58078765A>T" "" "pathogenic" "" "0000501399" "1" "95" "3" "58064504" "58064504" "subst" "0" "00000" "FLNB_000030" "g.58064504C>T" "" "{PMID:Farrington-Rock 2006:16752402}" "" "" "" "Unknown" "" "" "0" "" "" "g.58078777C>T" "" "pathogenic" "" "0000501400" "1" "95" "3" "58064504" "58064504" "subst" "0" "02974" "FLNB_000030" "g.58064504C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58078777C>T" "" "pathogenic" "" "0000501401" "1" "95" "3" "58064506" "58064506" "subst" "0" "00000" "FLNB_000007" "g.58064506A>G" "" "{PMID:Krakow 2004:14991055}, {OMIM603381:0007}" "" "" "" "Unknown" "" "" "0" "" "" "g.58078779A>G" "" "pathogenic" "" "0000501402" "1" "95" "3" "58064506" "58064506" "subst" "0" "00000" "FLNB_000007" "g.58064506A>G" "" "{PMID:Krakow 2004:14991055}, {OMIM603381:0007}" "" "" "" "Unknown" "" "" "0" "" "" "g.58078779A>G" "" "pathogenic" "" "0000501403" "0" "55" "3" "58064506" "58064506" "subst" "0" "00000" "FLNB_000044" "g.58064506A>G" "" "" "" "" "" "Unknown" "" "rs28939707" "0" "" "" "g.58078779A>G" "" "pathogenic" "" "0000501404" "1" "95" "3" "58064506" "58064506" "subst" "0" "00000" "FLNB_000044" "g.58064506A>G" "" "{PMID:Krakow 2004:14991055}" "" "" "" "Unknown" "" "" "0" "" "" "g.58078779A>G" "" "pathogenic" "" "0000501405" "1" "95" "3" "58064506" "58064506" "subst" "0" "02974" "FLNB_000007" "g.58064506A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58078779A>G" "" "pathogenic" "" "0000501406" "1" "95" "3" "58064506" "58064506" "subst" "0" "02974" "FLNB_000007" "g.58064506A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58078779A>G" "" "pathogenic" "" "0000501407" "1" "95" "3" "58064506" "58064506" "subst" "0" "02974" "FLNB_000007" "g.58064506A>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.58078779A>G" "" "pathogenic" "" "0000501408" "1" "95" "3" "58064507" "58064507" "subst" "0" "02974" "FLNB_000070" "g.58064507T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58078780T>C" "" "pathogenic" "" "0000501409" "1" "95" "3" "58064510" "58064510" "subst" "0" "00000" "FLNB_000031" "g.58064510A>C" "" "{PMID:Farrington-Rock 2006:16752402}" "" "" "" "Unknown" "" "" "0" "" "" "g.58078783A>C" "" "pathogenic" "" "0000501410" "1" "95" "3" "58064510" "58064510" "subst" "0" "02974" "FLNB_000031" "g.58064510A>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58078783A>C" "" "pathogenic" "" "0000501411" "1" "95" "3" "58064515" "58064515" "subst" "0" "02974" "FLNB_000078" "g.58064515G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.58078788G>A" "" "pathogenic" "" "0000501412" "1" "95" "3" "58064524" "58064524" "subst" "0" "02974" "FLNB_000066" "g.58064524T>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.58078797T>C" "" "pathogenic" "" "0000501413" "1" "95" "3" "58064531" "58064531" "subst" "0" "00000" "FLNB_000032" "g.58064531G>T" "" "{PMID:Bicknell 2007:16801345}, {OMIM603381:0011}" "" "" "" "Unknown" "" "" "0" "" "" "g.58078804G>T" "" "pathogenic" "" "0000501414" "1" "95" "3" "58064531" "58064531" "subst" "0" "00000" "FLNB_000032" "g.58064531G>T" "" "{PMID:Farrington-Rock 2006:16752402}" "" "" "" "Unknown" "" "" "0" "" "" "g.58078804G>T" "" "pathogenic" "" "0000501415" "1" "95" "3" "58064531" "58064531" "subst" "0" "02974" "FLNB_000032" "g.58064531G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58078804G>T" "" "pathogenic" "" "0000501416" "1" "95" "3" "58067377" "58067377" "subst" "0" "02974" "FLNB_000067" "g.58067377A>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58081650A>T" "" "pathogenic" "" "0000501417" "0" "95" "3" "58067395" "58067395" "subst" "0" "00000" "FLNB_000013" "g.58067395G>A" "" "{PMID:Krakow 2004:14991055}" "" "" "" "Unknown" "" "" "0" "" "" "g.58081668G>A" "" "pathogenic" "" "0000501418" "1" "95" "3" "58067395" "58067395" "subst" "0" "02974" "FLNB_000013" "g.58067395G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58081668G>A" "" "pathogenic" "" "0000501419" "1" "95" "3" "58067395" "58067395" "subst" "0" "02974" "FLNB_000013" "g.58067395G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58081668G>A" "" "pathogenic" "" "0000501420" "1" "95" "3" "58067395" "58067395" "subst" "0" "02974" "FLNB_000013" "g.58067395G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58081668G>A" "" "pathogenic" "" "0000501421" "1" "95" "3" "58067395" "58067395" "subst" "0" "02974" "FLNB_000013" "g.58067395G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58081668G>A" "" "pathogenic" "" "0000501422" "1" "95" "3" "58067395" "58067395" "subst" "0" "02974" "FLNB_000013" "g.58067395G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58081668G>A" "" "pathogenic" "" "0000501423" "1" "95" "3" "58067395" "58067395" "subst" "0" "02974" "FLNB_000013" "g.58067395G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58081668G>A" "" "pathogenic" "" "0000501424" "1" "95" "3" "58067395" "58067395" "subst" "0" "02974" "FLNB_000013" "g.58067395G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58081668G>A" "" "pathogenic" "" "0000501425" "1" "95" "3" "58067395" "58067395" "subst" "0" "02974" "FLNB_000013" "g.58067395G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58081668G>A" "" "pathogenic" "" "0000501426" "1" "95" "3" "58067395" "58067395" "subst" "0" "02974" "FLNB_000013" "g.58067395G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58081668G>A" "" "pathogenic" "" "0000501427" "1" "95" "3" "58067395" "58067395" "subst" "0" "02974" "FLNB_000013" "g.58067395G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58081668G>A" "" "pathogenic" "" "0000501428" "1" "95" "3" "58067395" "58067395" "subst" "0" "02974" "FLNB_000013" "g.58067395G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58081668G>A" "" "pathogenic" "" "0000501429" "1" "95" "3" "58067395" "58067395" "subst" "0" "02974" "FLNB_000013" "g.58067395G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58081668G>A" "" "pathogenic" "" "0000501430" "1" "95" "3" "58067395" "58067395" "subst" "0" "02974" "FLNB_000013" "g.58067395G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58081668G>A" "" "pathogenic" "" "0000501431" "1" "95" "3" "58067395" "58067395" "subst" "0" "02974" "FLNB_000013" "g.58067395G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58081668G>A" "" "pathogenic" "" "0000501432" "1" "95" "3" "58067395" "58067395" "subst" "0" "02974" "FLNB_000013" "g.58067395G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58081668G>A" "" "pathogenic" "" "0000501433" "1" "95" "3" "58067401" "58067401" "subst" "0" "02974" "FLNB_000068" "g.58067401T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58081674T>C" "" "pathogenic" "" "0000501434" "0" "55" "3" "58067414" "58067414" "subst" "0" "03035" "FLNB_000085" "g.58067414A>G" "" "" "" "" "This is a mosaic change found to be present at +- 10% in the patient somatic tissues" "Somatic" "" "" "0" "" "" "g.58081687A>G" "" "pathogenic" "" "0000501435" "1" "95" "3" "58067416" "58067416" "subst" "0" "00000" "FLNB_000037" "g.58067416C>G" "" "{PMID:Bicknell 2007:16801345}" "" "" "" "Unknown" "" "" "0" "" "" "g.58081689C>G" "" "pathogenic" "" "0000501436" "1" "95" "3" "58067416" "58067416" "subst" "0" "02974" "FLNB_000037" "g.58067416C>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.58081689C>G" "" "pathogenic" "" "0000501437" "1" "95" "3" "58067419" "58067419" "subst" "0" "00000" "FLNB_000016" "g.58067419T>C" "" "{PMID:Bicknell 2005:15994868}, {OMIM603381:0010}" "" "" "" "Unknown" "" "" "0" "" "" "g.58081692T>C" "" "pathogenic" "" "0000501438" "1" "95" "3" "58067419" "58067419" "subst" "0" "02974" "FLNB_000016" "g.58067419T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58081692T>C" "" "pathogenic" "" "0000501439" "1" "95" "3" "58083638" "58083638" "subst" "0" "00000" "FLNB_000038" "g.58083638G>A" "" "{PMID:Bicknell 2007:16801345}" "" "" "" "Unknown" "" "" "0" "" "" "g.58097911G>A" "" "pathogenic" "" "0000501440" "1" "95" "3" "58083638" "58083638" "subst" "0" "02974" "FLNB_000038" "g.58083638G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.58097911G>A" "" "pathogenic" "" "0000501441" "1" "95" "3" "58083638" "58083638" "subst" "0" "02974" "FLNB_000046" "g.58083638G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58097911G>T" "" "pathogenic" "" "0000501442" "1" "95" "3" "58083639" "58083639" "subst" "0" "02974" "FLNB_000047" "g.58083639G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58097912G>A" "" "pathogenic" "" "0000501443" "1" "95" "3" "58083639" "58083639" "subst" "0" "02974" "FLNB_000047" "g.58083639G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58097912G>A" "" "pathogenic" "" "0000501444" "1" "95" "3" "58083644" "58083644" "subst" "0" "02974" "FLNB_000079" "g.58083644G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.58097917G>A" "" "pathogenic" "" "0000501445" "1" "95" "3" "58083645" "58083645" "subst" "0" "00000" "FLNB_000039" "g.58083645G>A" "" "{PMID:Bicknell 2007:16801345}" "" "" "" "Unknown" "" "" "0" "" "" "g.58097918G>A" "" "pathogenic" "" "0000501446" "1" "95" "3" "58083645" "58083645" "subst" "0" "02974" "FLNB_000039" "g.58083645G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.58097918G>A" "" "pathogenic" "" "0000501447" "3" "95" "3" "58094188" "58094188" "subst" "0" "00000" "FLNB_000012" "g.58094188C>T" "" "{PMID:Krakow 2004:14991055}" "" "" "" "Unknown" "" "" "0" "" "" "g.58108461C>T" "" "pathogenic" "" "0000501448" "11" "95" "3" "58094188" "58094188" "subst" "0" "02974" "FLNB_000012" "g.58094188C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58108461C>T" "" "pathogenic" "" "0000501449" "21" "95" "3" "58094188" "58094188" "subst" "0" "02974" "FLNB_000012" "g.58094188C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58108461C>T" "" "pathogenic" "" "0000501450" "11" "95" "3" "58094188" "58094188" "subst" "0" "02974" "FLNB_000012" "g.58094188C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58108461C>T" "" "pathogenic" "" "0000501451" "21" "95" "3" "58094188" "58094188" "subst" "0" "02974" "FLNB_000012" "g.58094188C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58108461C>T" "" "pathogenic" "" "0000501452" "11" "95" "3" "58094188" "58094188" "subst" "0" "02974" "FLNB_000012" "g.58094188C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58108461C>T" "" "pathogenic" "" "0000501453" "21" "95" "3" "58094188" "58094188" "subst" "0" "02974" "FLNB_000012" "g.58094188C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58108461C>T" "" "pathogenic" "" "0000501454" "11" "95" "3" "58094188" "58094188" "subst" "0" "02974" "FLNB_000012" "g.58094188C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58108461C>T" "" "pathogenic" "" "0000501455" "21" "95" "3" "58094188" "58094188" "subst" "0" "02974" "FLNB_000012" "g.58094188C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58108461C>T" "" "pathogenic" "" "0000501456" "11" "95" "3" "58094188" "58094188" "subst" "0" "02974" "FLNB_000012" "g.58094188C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58108461C>T" "" "pathogenic" "" "0000501457" "21" "95" "3" "58094188" "58094188" "subst" "0" "02974" "FLNB_000012" "g.58094188C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58108461C>T" "" "pathogenic" "" "0000501458" "1" "95" "3" "58094299" "58094299" "subst" "0" "02974" "FLNB_000080" "g.58094299G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58108572G>A" "" "pathogenic" "" "0000501459" "1" "95" "3" "58095354" "58095354" "subst" "0" "00000" "FLNB_000008" "g.58095354G>C" "" "{PMID:Krakow 2004:14991055}, {OMIM603381:0008}" "" "" "" "Unknown" "" "" "0" "" "" "g.58109627G>C" "" "pathogenic" "" "0000501460" "0" "55" "3" "58095354" "58095354" "subst" "0" "00000" "FLNB_000043" "g.58095354G>C" "" "" "" "" "" "Unknown" "" "rs28937587" "0" "" "" "g.58109627G>C" "" "pathogenic" "" "0000501461" "1" "95" "3" "58095354" "58095354" "subst" "0" "00000" "FLNB_000043" "g.58095354G>C" "" "{PMID:Krakow 2004:14991055}" "" "" "" "Unknown" "" "" "0" "" "" "g.58109627G>C" "" "pathogenic" "" "0000501462" "1" "95" "3" "58095354" "58095354" "subst" "0" "02974" "FLNB_000008" "g.58095354G>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.58109627G>C" "" "pathogenic" "" "0000501463" "1" "95" "3" "58095865" "58095865" "subst" "4.06088E-6" "00000" "FLNB_000002" "g.58095865C>T" "" "{PMID:Krakow 2004:14991055}, {OMIM603381:0002}" "" "" "" "Unknown" "" "" "0" "" "" "g.58110138C>T" "" "pathogenic" "" "0000501464" "1" "95" "3" "58095865" "58095865" "subst" "4.06088E-6" "00000" "FLNB_000002" "g.58095865C>T" "" "{PMID:Krakow 2004:14991055}" "" "" "" "Unknown" "" "" "0" "" "" "g.58110138C>T" "" "pathogenic" "" "0000501465" "1" "95" "3" "58095865" "58095865" "subst" "4.06088E-6" "02974" "FLNB_000002" "g.58095865C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58110138C>T" "" "pathogenic" "" "0000501466" "1" "95" "3" "58067395" "58067395" "subst" "0" "00000" "FLNB_000013" "g.58067395G>A" "" "{PMID:Bicknell 2007:16801345}" "" "" "" "Unknown" "" "" "0" "" "" "g.58081668G>A" "" "pathogenic" "" "0000501467" "1" "95" "3" "58116537" "58116537" "subst" "0" "00000" "FLNB_000033" "g.58116537T>G" "" "{PMID:Bicknell 2007:16801345}" "" "" "" "Unknown" "" "" "0" "" "" "g.58130810T>G" "" "pathogenic" "" "0000501468" "1" "95" "3" "58116537" "58116537" "subst" "0" "02974" "FLNB_000033" "g.58116537T>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.58130810T>G" "" "pathogenic" "" "0000501469" "1" "95" "3" "58120408" "58120408" "subst" "0" "02974" "FLNB_000048" "g.58120408T>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58134681T>A" "" "pathogenic" "" "0000501470" "1" "95" "3" "58120408" "58120408" "subst" "0" "02974" "FLNB_000049" "g.58120408T>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.58134681T>C" "" "pathogenic" "" "0000501472" "1" "95" "3" "58120449" "58120449" "subst" "0" "02974" "FLNB_000050" "g.58120449G>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.58134722G>C" "" "pathogenic" "" "0000501473" "1" "95" "3" "58120453" "58120453" "subst" "0" "02974" "FLNB_000051" "g.58120453T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58134726T>C" "" "pathogenic" "" "0000501474" "1" "95" "3" "58120453" "58120453" "subst" "0" "02974" "FLNB_000051" "g.58120453T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58134726T>C" "" "pathogenic" "" "0000501476" "0" "95" "3" "58121747" "58121749" "del" "0" "00000" "FLNB_000009" "g.58121747_58121749del" "" "{PMID:Krakow 2004:14991055}" "" "4713_4715delTAA" "" "Unknown" "" "" "0" "" "" "g.58136020_58136022del" "" "pathogenic" "" "0000501477" "1" "95" "3" "58121747" "58121749" "del" "0" "02974" "FLNB_000009" "g.58121747_58121749del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.58136020_58136022del" "" "pathogenic" "" "0000501478" "1" "95" "3" "58121759" "58121770" "del" "0" "02974" "FLNB_000052" "g.58121759_58121770del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58136032_58136043del" "" "pathogenic" "" "0000501479" "1" "95" "3" "58121771" "58121771" "" "0" "00000" "FLNB_000045" "g.[58121771dup;58121780_58121792del]" "" "{PMID:Farrington-Rock 2006:16752402}" "" "c.[4737dupC;4746_4758del]" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000501480" "1" "95" "3" "58121771" "58121771" "" "0" "02974" "FLNB_000072" "g.[58121771dup;58121782_58121794del]" "" "" "" "c.4737_4738insC;4746_4758del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000501481" "1" "95" "3" "58121781" "58121783" "del" "0" "00000" "FLNB_000024" "g.58121781_58121783del" "" "{PMID:Farrington-Rock 2006:16752402}" "" "4747_4749delGAC" "" "Unknown" "" "" "0" "" "" "g.58136054_58136056del" "" "pathogenic" "" "0000501482" "1" "95" "3" "58121781" "58121783" "del" "0" "02974" "FLNB_000024" "g.58121781_58121783del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58136054_58136056del" "" "pathogenic" "" "0000501483" "1" "95" "3" "58121790" "58121790" "subst" "0" "00000" "FLNB_000005" "g.58121790G>A" "" "{PMID:Krakow 2004:14991055}, {OMIM603381:0005}" "" "" "" "De novo" "" "" "0" "" "" "g.58136063G>A" "" "pathogenic" "" "0000501484" "0" "55" "3" "58121790" "58121790" "subst" "0" "00000" "FLNB_000005" "g.58121790G>A" "" "" "" "" "" "Unknown" "" "rs28939706" "0" "" "" "g.58136063G>A" "" "pathogenic" "" "0000501485" "1" "95" "3" "58121790" "58121790" "subst" "0" "00000" "FLNB_000005" "g.58121790G>A" "" "{PMID:Krakow 2004:14991055}" "" "" "" "Unknown" "" "" "0" "" "" "g.58136063G>A" "" "pathogenic" "" "0000501486" "1" "95" "3" "58121790" "58121790" "subst" "0" "02974" "FLNB_000005" "g.58121790G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.58136063G>A" "" "pathogenic" "" "0000501487" "1" "95" "3" "58121790" "58121790" "subst" "0" "02974" "FLNB_000005" "g.58121790G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.58136063G>A" "" "pathogenic" "" "0000501488" "1" "95" "3" "58121809" "58121809" "subst" "0" "00000" "FLNB_000034" "g.58121809T>A" "" "{PMID:Bicknell 2007:16801345}" "" "" "" "Unknown" "" "" "0" "" "" "g.58136082T>A" "" "pathogenic" "" "0000501489" "1" "95" "3" "58121809" "58121809" "subst" "0" "02974" "FLNB_000034" "g.58121809T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58136082T>A" "" "pathogenic" "" "0000501490" "1" "95" "3" "58121809" "58121809" "subst" "0" "02974" "FLNB_000034" "g.58121809T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58136082T>A" "" "pathogenic" "" "0000501491" "1" "95" "3" "58121815" "58121815" "subst" "0" "02974" "FLNB_000053" "g.58121815A>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.58136088A>C" "" "pathogenic" "" "0000501492" "1" "95" "3" "58121829" "58121829" "subst" "0" "02974" "FLNB_000054" "g.58121829A>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58136102A>T" "" "pathogenic" "" "0000501493" "1" "95" "3" "58121838" "58121838" "subst" "0" "00000" "FLNB_000025" "g.58121838T>C" "" "{PMID:Farrington-Rock 2006:16752402}" "" "" "" "Unknown" "" "" "0" "" "" "g.58136111T>C" "" "pathogenic" "" "0000501494" "1" "95" "3" "58121838" "58121838" "subst" "0" "02974" "FLNB_000025" "g.58121838T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58136111T>C" "" "pathogenic" "" "0000501495" "1" "95" "3" "58121839" "58121839" "subst" "0" "02974" "FLNB_000055" "g.58121839C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58136112C>A" "" "pathogenic" "" "0000501496" "1" "95" "3" "58121842" "58121842" "subst" "0" "00000" "FLNB_000035" "g.58121842C>T" "" "{PMID:Bicknell 2007:16801345}" "" "" "" "Unknown" "" "" "0" "" "" "g.58136115C>T" "" "pathogenic" "" "0000501497" "1" "95" "3" "58121842" "58121842" "subst" "0" "02974" "FLNB_000035" "g.58121842C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.58136115C>T" "" "pathogenic" "" "0000501498" "2" "95" "3" "58121853" "58121853" "subst" "3.68713E-5" "00000" "FLNB_000003" "g.58121853C>T" "" "{PMID:Krakow 2004:14991055}, {OMIM603381:0003}" "" "" "" "Unknown" "" "" "0" "" "" "g.58136126C>T" "" "pathogenic" "" "0000501499" "2" "95" "3" "58121853" "58121853" "subst" "3.68713E-5" "00000" "FLNB_000003" "g.58121853C>T" "" "{PMID:Krakow 2004:14991055}" "" "" "" "Unknown" "" "" "0" "" "" "g.58136126C>T" "" "pathogenic" "" "0000501500" "2" "95" "3" "58121853" "58121853" "subst" "3.68713E-5" "02974" "FLNB_000003" "g.58121853C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58136126C>T" "" "pathogenic" "" "0000501501" "1" "95" "3" "58121869" "58121869" "subst" "0" "00000" "FLNB_000026" "g.58121869G>A" "" "{PMID:Farrington-Rock 2006:16752402}" "" "" "" "Unknown" "" "" "0" "" "" "g.58136142G>A" "" "pathogenic" "" "0000501502" "1" "95" "3" "58121869" "58121869" "subst" "0" "02974" "FLNB_000026" "g.58121869G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58136142G>A" "" "pathogenic" "" "0000501503" "1" "95" "3" "58124074" "58124074" "subst" "0" "00000" "FLNB_000027" "g.58124074G>C" "" "{PMID:Farrington-Rock 2006:16752402}" "" "" "" "Unknown" "" "" "0" "" "" "g.58138347G>C" "" "pathogenic" "" "0000501504" "1" "95" "3" "58124074" "58124074" "subst" "0" "02974" "FLNB_000027" "g.58124074G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58138347G>C" "" "pathogenic" "" "0000501506" "1" "95" "3" "58124083" "58124083" "subst" "0" "02974" "FLNB_000057" "g.58124083G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58138356G>A" "" "pathogenic" "" "0000501507" "1" "95" "3" "58124171" "58124173" "del" "0" "02974" "FLNB_000060" "g.58124171_58124173del" "" "" "" "c.5023_5025del" "" "Unknown" "" "" "0" "" "" "g.58138444_58138446del" "" "pathogenic" "" "0000501508" "0" "95" "3" "58124218" "58124218" "subst" "0" "00000" "FLNB_000010" "g.58124218G>A" "" "{PMID:Krakow 2004:14991055}" "" "" "" "Unknown" "" "" "0" "" "" "g.58138491G>A" "" "pathogenic" "" "0000501509" "1" "95" "3" "58124218" "58124218" "subst" "0" "00000" "FLNB_000010" "g.58124218G>A" "" "{PMID:Bicknell 2007:16801345}, {OMIM603381:0012}" "" "" "" "Unknown" "" "" "0" "" "" "g.58138491G>A" "" "pathogenic" "" "0000501510" "1" "95" "3" "58124218" "58124218" "subst" "0" "00000" "FLNB_000010" "g.58124218G>A" "" "{PMID:Bicknell 2007:16801345}, {OMIM603381:0012}" "" "" "" "Unknown" "" "" "0" "" "" "g.58138491G>A" "" "pathogenic" "" "0000501511" "1" "95" "3" "58124218" "58124218" "subst" "0" "00000" "FLNB_000010" "g.58124218G>A" "" "{PMID:Bicknell 2007:16801345}, {OMIM603381:0012}" "" "" "" "Unknown" "" "" "0" "" "" "g.58138491G>A" "" "pathogenic" "" "0000501512" "1" "95" "3" "58124218" "58124218" "subst" "0" "00000" "FLNB_000010" "g.58124218G>A" "" "{PMID:Bicknell 2007:16801345}, {OMIM603381:0012}" "" "" "" "Unknown" "" "" "0" "" "" "g.58138491G>A" "" "pathogenic" "" "0000501513" "1" "95" "3" "58124218" "58124218" "subst" "0" "00000" "FLNB_000010" "g.58124218G>A" "" "{PMID:Bicknell 2007:16801345}, {OMIM603381:0012}" "" "" "" "Unknown" "" "" "0" "" "" "g.58138491G>A" "" "pathogenic" "" "0000501514" "1" "95" "3" "58124218" "58124218" "subst" "0" "00000" "FLNB_000010" "g.58124218G>A" "" "{PMID:Bicknell 2007:16801345}, {OMIM603381:0012}" "" "" "" "Unknown" "" "" "0" "" "" "g.58138491G>A" "" "pathogenic" "" "0000501515" "1" "95" "3" "58124218" "58124218" "subst" "0" "00000" "FLNB_000010" "g.58124218G>A" "" "{PMID:Farrington-Rock 2006:16752402}" "" "" "" "Unknown" "" "" "0" "" "" "g.58138491G>A" "" "pathogenic" "" "0000501516" "1" "95" "3" "58124218" "58124218" "subst" "0" "02974" "FLNB_000010" "g.58124218G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58138491G>A" "" "pathogenic" "" "0000501517" "1" "95" "3" "58124218" "58124218" "subst" "0" "02974" "FLNB_000010" "g.58124218G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58138491G>A" "" "pathogenic" "" "0000501518" "1" "95" "3" "58124218" "58124218" "subst" "0" "02974" "FLNB_000010" "g.58124218G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58138491G>A" "" "pathogenic" "" "0000501519" "1" "95" "3" "58124218" "58124218" "subst" "0" "02974" "FLNB_000010" "g.58124218G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58138491G>A" "" "pathogenic" "" "0000501520" "1" "95" "3" "58124218" "58124218" "subst" "0" "02974" "FLNB_000010" "g.58124218G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58138491G>A" "" "pathogenic" "" "0000501521" "1" "95" "3" "58124218" "58124218" "subst" "0" "02974" "FLNB_000010" "g.58124218G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58138491G>A" "" "pathogenic" "" "0000501522" "1" "95" "3" "58124218" "58124218" "subst" "0" "02974" "FLNB_000010" "g.58124218G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58138491G>A" "" "pathogenic" "" "0000501523" "1" "95" "3" "58124218" "58124218" "subst" "0" "02974" "FLNB_000010" "g.58124218G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58138491G>A" "" "pathogenic" "" "0000501524" "1" "95" "3" "58124218" "58124218" "subst" "0" "02974" "FLNB_000010" "g.58124218G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58138491G>A" "" "pathogenic" "" "0000501525" "1" "95" "3" "58124218" "58124218" "subst" "0" "02974" "FLNB_000010" "g.58124218G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58138491G>A" "" "pathogenic" "" "0000501526" "1" "95" "3" "58124218" "58124218" "subst" "0" "02974" "FLNB_000010" "g.58124218G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58138491G>A" "" "pathogenic" "" "0000501527" "1" "95" "3" "58124218" "58124218" "subst" "0" "02974" "FLNB_000010" "g.58124218G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58138491G>A" "" "pathogenic" "" "0000501528" "1" "95" "3" "58124218" "58124218" "subst" "0" "02974" "FLNB_000061" "g.58124218G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58138491G>T" "" "pathogenic" "" "0000501529" "1" "95" "3" "58124219" "58124219" "subst" "0" "02974" "FLNB_000062" "g.58124219G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.58138492G>A" "" "pathogenic" "" "0000501530" "1" "95" "3" "58124221" "58124221" "subst" "0" "02974" "FLNB_000083" "g.58124221G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.58138494G>A" "" "pathogenic" "" "0000501531" "1" "95" "3" "58124242" "58124242" "subst" "0" "02974" "FLNB_000075" "g.58124242C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58138515C>T" "" "pathogenic" "" "0000501532" "1" "95" "3" "58131722" "58131722" "subst" "0" "00000" "FLNB_000036" "g.58131722G>A" "" "{PMID:Bicknell 2007:16801345}" "" "" "" "Unknown" "" "" "0" "" "" "g.58145995G>A" "" "pathogenic" "" "0000501533" "1" "95" "3" "58131722" "58131722" "subst" "0" "02974" "FLNB_000036" "g.58131722G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.58145995G>A" "" "pathogenic" "" "0000501534" "1" "95" "3" "58131722" "58131722" "subst" "0" "02974" "FLNB_000036" "g.58131722G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.58145995G>A" "" "pathogenic" "" "0000501535" "1" "95" "3" "58131770" "58131770" "subst" "4.06072E-6" "00000" "FLNB_000042" "g.58131770G>T" "" "{PMID:Brunetti-Pierri 2008:18386804}, {OMIM603381:0001}" "" "" "" "Unknown" "" "" "0" "" "" "g.58146043G>T" "" "pathogenic" "" "0000501536" "2" "95" "3" "58131770" "58131770" "subst" "4.06072E-6" "00000" "FLNB_000042" "g.58131770G>T" "" "{PMID:Brunetti-Pierri 2008:18386804}, {OMIM603381:0001}" "" "" "" "Unknown" "" "" "0" "" "" "g.58146043G>T" "" "pathogenic" "" "0000501537" "1" "95" "3" "58132698" "58132698" "subst" "0" "02974" "FLNB_000063" "g.58132698C>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.58146971C>A" "" "pathogenic" "" "0000501539" "1" "95" "3" "58134498" "58134498" "subst" "4.0653E-6" "00000" "FLNB_000041" "g.58134498C>T" "" "{PMID:Lu 2008:18332320}, {OMIM603381:0013}" "" "" "" "Unknown" "" "" "0" "" "" "g.58148771C>T" "" "pathogenic" "" "0000501540" "2" "95" "3" "58134498" "58134498" "subst" "4.0653E-6" "00000" "FLNB_000041" "g.58134498C>T" "" "{PMID:Lu 2008:18332320}, {OMIM603381:0013}" "" "" "" "Unknown" "" "" "0" "" "" "g.58148771C>T" "" "pathogenic" "" "0000501541" "1" "95" "3" "58139142" "58139142" "del" "0" "00000" "FLNB_000001" "g.58139142del" "" "{PMID:Krakow 2004:14991055}, {OMIM603381:0001}" "" "" "" "Unknown" "" "" "0" "" "" "g.58153415del" "" "pathogenic" "" "0000501542" "2" "95" "3" "58139142" "58139142" "del" "0" "00000" "FLNB_000001" "g.58139142del" "" "{PMID:Krakow 2004:14991055}, {OMIM603381:0001}" "" "" "" "Unknown" "" "" "0" "" "" "g.58153415del" "" "pathogenic" "" "0000501543" "1" "95" "3" "58139142" "58139142" "del" "0" "00000" "FLNB_000001" "g.58139142del" "" "{PMID:Krakow 2004:14991055}" "" "" "" "Unknown" "" "" "0" "" "" "g.58153415del" "" "pathogenic" "" "0000501544" "11" "95" "3" "58139142" "58139142" "del" "0" "02974" "FLNB_000001" "g.58139142del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58153415del" "" "pathogenic" "" "0000501545" "21" "95" "3" "58139142" "58139142" "del" "0" "02974" "FLNB_000001" "g.58139142del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58153415del" "" "pathogenic" "" "0000501546" "3" "95" "3" "58148888" "58148888" "subst" "4.06095E-6" "00000" "FLNB_000014" "g.58148888T>G" "" "{PMID:Krakow 2004:14991055}" "" "" "" "Unknown" "" "" "0" "" "" "g.58163161T>G" "" "pathogenic" "" "0000501547" "11" "95" "3" "58148888" "58148888" "subst" "4.06095E-6" "02974" "FLNB_000014" "g.58148888T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58163161T>G" "" "pathogenic" "" "0000501548" "21" "95" "3" "58148888" "58148888" "subst" "4.06095E-6" "02974" "FLNB_000014" "g.58148888T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58163161T>G" "" "pathogenic" "" "0000501549" "1" "95" "3" "58154258" "58154281" "del" "0" "02974" "FLNB_000069" "g.58154258_58154281del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.58168531_58168554del" "" "pathogenic" "" "0000501550" "3" "95" "3" "58155521" "58155521" "dup" "0" "03032" "FLNB_000084" "g.58155521dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58169794dup" "" "pathogenic" "" "0000520491" "0" "10" "3" "57994540" "57994540" "subst" "0.00124331" "01943" "FLNB_000172" "g.57994540G>A" "" "" "" "FLNB(NM_001164317.1):c.249G>A (p.A83=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58008813G>A" "" "benign" "" "0000520492" "0" "30" "3" "57994565" "57994565" "subst" "0.000625853" "01943" "FLNB_000173" "g.57994565A>G" "" "" "" "FLNB(NM_001164317.1):c.274A>G (p.I92V, p.(Ile92Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58008838A>G" "" "likely benign" "" "0000520493" "0" "10" "3" "57994591" "57994591" "subst" "0.00413832" "02329" "FLNB_000174" "g.57994591C>A" "" "" "" "FLNB(NM_001164317.2):c.292+8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58008864C>A" "" "benign" "" "0000520495" "0" "50" "3" "58080602" "58080602" "subst" "4.06253E-6" "02327" "FLNB_000175" "g.58080602A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58094875A>G" "" "VUS" "" "0000520497" "0" "50" "3" "58087987" "58087987" "subst" "8.12473E-6" "01804" "FLNB_000177" "g.58087987G>A" "" "" "" "FLNB(NM_001164317.1):c.1403G>A (p.(Arg468His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58102260G>A" "" "VUS" "" "0000520498" "0" "50" "3" "58089688" "58089688" "subst" "2.43669E-5" "02327" "FLNB_000178" "g.58089688G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58103961G>T" "" "VUS" "" "0000520499" "0" "30" "3" "58089761" "58089761" "subst" "0.00235544" "02329" "FLNB_000105" "g.58089761C>T" "" "" "" "FLNB(NM_001164317.1):c.1559C>T (p.P520L, p.(Pro520Leu)), FLNB(NM_001164317.2):c.1559C>T (p.P520L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58104034C>T" "" "likely benign" "" "0000520500" "0" "50" "3" "58089790" "58089790" "subst" "6.90675E-5" "01804" "FLNB_000179" "g.58089790G>T" "" "" "" "FLNB(NM_001164317.1):c.1588G>T (p.(Gly530Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58104063G>T" "" "VUS" "" "0000520501" "0" "30" "3" "58090893" "58090893" "subst" "0.000678228" "02329" "FLNB_000107" "g.58090893G>A" "" "" "" "FLNB(NM_001164317.1):c.1697G>A (p.R566Q, p.(Arg566Gln)), FLNB(NM_001164317.2):c.1697G>A (p.R566Q), FLNB(NM_001457.4):c.1697G>A (p.R566Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58105166G>A" "" "likely benign" "" "0000520502" "0" "50" "3" "58094909" "58094909" "subst" "9.34655E-5" "01943" "FLNB_000110" "g.58094909G>A" "" "" "" "FLNB(NM_001164317.1):c.2059G>A (p.G687R, p.(Gly687Arg)), FLNB(NM_001164317.2):c.2059G>A (p.G687R), FLNB(NM_001457.4):c.2059G>A (p.G687R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58109182G>A" "" "VUS" "" "0000520505" "0" "30" "3" "58097526" "58097526" "subst" "0.00146648" "01943" "FLNB_000113" "g.58097526C>T" "" "" "" "FLNB(NM_001164317.1):c.2493C>T (p.P831=), FLNB(NM_001164317.2):c.2493C>T (p.P831=), FLNB(NM_001457.4):c.2493C>T (p.(Pro831=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58111799C>T" "" "likely benign" "" "0000520508" "0" "30" "3" "58107035" "58107035" "subst" "0.000328945" "01943" "FLNB_000184" "g.58107035G>A" "" "" "" "FLNB(NM_001164317.1):c.2931G>A (p.L977=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58121308G>A" "" "likely benign" "" "0000520511" "0" "50" "3" "58108923" "58108923" "dup" "0" "01943" "FLNB_000187" "g.58108923dup" "" "" "" "FLNB(NM_001164317.1):c.3230dupT (p.E1078Gfs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58123196dup" "" "VUS" "" "0000520512" "0" "30" "3" "58109123" "58109123" "subst" "0.000523977" "01943" "FLNB_000120" "g.58109123G>C" "" "" "" "FLNB(NM_001164317.1):c.3430G>C (p.E1144Q), FLNB(NM_001457.4):c.3430G>C (p.(Glu1144Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58123396G>C" "" "likely benign" "" "0000520513" "0" "30" "3" "58109228" "58109228" "subst" "0.00540757" "01804" "FLNB_000188" "g.58109228G>A" "" "" "" "FLNB(NM_001164317.1):c.3535G>A (p.(Glu1179Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58123501G>A" "" "likely benign" "" "0000520514" "0" "30" "3" "58109344" "58109344" "subst" "9.5565E-5" "02329" "FLNB_000189" "g.58109344C>T" "" "" "" "FLNB(NM_001164317.2):c.3651C>T (p.P1217=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58123617C>T" "" "likely benign" "" "0000520515" "0" "30" "3" "58109426" "58109426" "subst" "0" "01943" "FLNB_000190" "g.58109426C>A" "" "" "" "FLNB(NM_001164317.1):c.3724+9C>A, FLNB(NM_001457.4):c.3724+9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58123699C>A" "" "likely benign" "" "0000520516" "0" "10" "3" "58109431" "58109460" "del" "0" "02329" "FLNB_000191" "g.58109431_58109460del" "" "" "" "FLNB(NM_001164317.2):c.3724+14_3724+43delAAAAAAAAAAAAAAAAAAAAAAAGACAAGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58123704_58123733del" "" "benign" "" "0000520517" "0" "50" "3" "58110100" "58110100" "subst" "6.90355E-5" "01943" "FLNB_000192" "g.58110100C>T" "" "" "" "FLNB(NM_001164317.1):c.3766C>T (p.R1256W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58124373C>T" "" "VUS" "" "0000520518" "0" "30" "3" "58110119" "58110119" "subst" "0.00494997" "01804" "FLNB_000193" "g.58110119G>C" "" "" "" "FLNB(NM_001164317.1):c.3785G>C (p.(Gly1262Ala)), FLNB(NM_001164317.2):c.3785G>C (p.G1262A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58124392G>C" "" "likely benign" "" "0000520519" "0" "50" "3" "58111431" "58111431" "subst" "0.000873196" "01943" "FLNB_000194" "g.58111431C>G" "" "" "" "FLNB(NM_001164317.1):c.4022C>G (p.A1341G, p.(Ala1341Gly)), FLNB(NM_001457.4):c.4022C>G (p.A1341G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58125704C>G" "" "VUS" "" "0000520520" "0" "50" "3" "58111449" "58111449" "subst" "0.000178743" "01943" "FLNB_000195" "g.58111449A>G" "" "" "" "FLNB(NM_001164317.1):c.4040A>G (p.N1347S), FLNB(NM_001457.4):c.4040A>G (p.(Asn1347Ser), p.N1347S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58125722A>G" "" "VUS" "" "0000520521" "0" "50" "3" "58111460" "58111460" "subst" "4.06388E-6" "01943" "FLNB_000196" "g.58111460G>A" "" "" "" "FLNB(NM_001164317.1):c.4051G>A (p.V1351M), FLNB(NM_001457.4):c.4051G>A (p.(Val1351Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58125733G>A" "" "VUS" "" "0000520522" "0" "30" "3" "58111467" "58111467" "subst" "0.000593366" "01804" "FLNB_000197" "g.58111467C>G" "" "" "" "FLNB(NM_001164317.1):c.4058C>G (p.T1353S, p.(Thr1353Ser)), FLNB(NM_001457.4):c.4058C>G (p.T1353S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58125740C>G" "" "likely benign" "" "0000520523" "0" "30" "3" "58112324" "58112324" "subst" "0.00870886" "01804" "FLNB_000198" "g.58112324T>G" "" "" "" "FLNB(NM_001164317.1):c.4062-5T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58126597T>G" "" "likely benign" "" "0000520525" "0" "50" "3" "58112400" "58112400" "subst" "4.06081E-6" "02327" "FLNB_000200" "g.58112400A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58126673A>G" "" "VUS" "" "0000520526" "0" "30" "3" "58112497" "58112497" "subst" "0.00338281" "01804" "FLNB_000169" "g.58112497A>G" "" "" "" "FLNB(NM_001164317.1):c.4222+8A>G (p.(=)), FLNB(NM_001164317.2):c.4222+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58126770A>G" "" "likely benign" "" "0000520527" "0" "30" "3" "58116478" "58116478" "subst" "0.000611026" "01804" "FLNB_000201" "g.58116478C>G" "" "" "" "FLNB(NM_001164317.1):c.4233C>G (p.F1411L, p.(Phe1411Leu)), FLNB(NM_001457.4):c.4233C>G (p.F1411L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58130751C>G" "" "likely benign" "" "0000520528" "0" "30" "3" "58117710" "58117710" "subst" "0.00066949" "01804" "FLNB_000202" "g.58117710T>C" "" "" "" "FLNB(NM_001164317.1):c.4447T>C (p.(Phe1483Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58131983T>C" "" "likely benign" "" "0000520529" "0" "70" "3" "58120389" "58120389" "subst" "0" "02327" "FLNB_000203" "g.58120389A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58134662A>C" "" "likely pathogenic" "" "0000520530" "0" "70" "3" "58120453" "58120453" "subst" "0" "02327" "FLNB_000051" "g.58120453T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58134726T>C" "" "likely pathogenic" "" "0000520534" "0" "30" "3" "58133973" "58133973" "subst" "0.000804322" "02329" "FLNB_000207" "g.58133973C>T" "" "" "" "FLNB(NM_001164317.2):c.5862C>T (p.A1954=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58148246C>T" "" "likely benign" "" "0000520536" "0" "30" "3" "58134505" "58134505" "subst" "0.0100041" "01804" "FLNB_000150" "g.58134505A>G" "" "" "" "FLNB(NM_001164317.1):c.6110A>G (p.(Lys2037Arg)), FLNB(NM_001164317.2):c.6110A>G (p.K2037R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58148778A>G" "" "likely benign" "" "0000520538" "0" "30" "3" "58135716" "58135716" "subst" "0.00256221" "02329" "FLNB_000153" "g.58135716C>T" "" "" "" "FLNB(NM_001164317.1):c.6324C>T (p.D2108=), FLNB(NM_001164317.2):c.6324C>T (p.D2108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58149989C>T" "" "likely benign" "" "0000520540" "0" "30" "3" "58145348" "58145348" "subst" "0.00742174" "01804" "FLNB_000164" "g.58145348T>C" "" "" "" "FLNB(NM_001164317.1):c.7049T>C (p.(Ile2350Thr)), FLNB(NM_001164317.2):c.7049T>C (p.I2350T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58159621T>C" "" "likely benign" "" "0000520542" "0" "50" "3" "58148967" "58148967" "subst" "0" "01804" "FLNB_000211" "g.58148967C>T" "" "" "" "FLNB(NM_001457.3):c.7108C>T (p.(Pro2370Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58163240C>T" "" "VUS" "" "0000520543" "0" "30" "3" "58149042" "58149042" "subst" "0.00013432" "01804" "FLNB_000212" "g.58149042G>A" "" "" "" "FLNB(NM_001457.3):c.7183G>A (p.(Glu2395Lys)), FLNB(NM_001457.4):c.7183G>A (p.E2395K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58163315G>A" "" "likely benign" "" "0000600855" "3" "90" "3" "58107015" "58107015" "dup" "0" "03463" "FLNB_000214" "g.58107015dup" "0.0016" "" "" "2906dupG" "" "Germline" "yes" "" "0" "" "" "g.58121288dup" "" "pathogenic (recessive)" "" "0000608848" "0" "70" "3" "58062938" "58062938" "subst" "0" "02327" "FLNB_000215" "g.58062938T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58077211T>A" "" "likely pathogenic" "" "0000608849" "0" "30" "3" "58083667" "58083667" "subst" "1.62454E-5" "01943" "FLNB_000216" "g.58083667C>T" "" "" "" "FLNB(NM_001164317.1):c.1110C>T (p.I370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58097940C>T" "" "likely benign" "" "0000608850" "0" "10" "3" "58092103" "58092104" "del" "0" "02329" "FLNB_000217" "g.58092103_58092104del" "" "" "" "FLNB(NM_001164317.2):c.1748-304_1748-303delAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58106376_58106377del" "" "benign" "" "0000608851" "0" "30" "3" "58094909" "58094909" "subst" "9.34655E-5" "01804" "FLNB_000110" "g.58094909G>A" "" "" "" "FLNB(NM_001164317.1):c.2059G>A (p.G687R, p.(Gly687Arg)), FLNB(NM_001164317.2):c.2059G>A (p.G687R), FLNB(NM_001457.4):c.2059G>A (p.G687R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58109182G>A" "" "likely benign" "" "0000608852" "0" "30" "3" "58108912" "58108912" "subst" "0" "01943" "FLNB_000219" "g.58108912G>A" "" "" "" "FLNB(NM_001164317.1):c.3219G>A (p.L1073=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58123185G>A" "" "likely benign" "" "0000608853" "0" "50" "3" "58109369" "58109369" "subst" "2.50564E-5" "01943" "FLNB_000220" "g.58109369G>A" "" "" "" "FLNB(NM_001164317.1):c.3676G>A (p.V1226M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58123642G>A" "" "VUS" "" "0000608854" "0" "30" "3" "58111474" "58111474" "subst" "0.00033339" "01943" "FLNB_000132" "g.58111474G>A" "" "" "" "FLNB(NM_001164317.1):c.4061+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58125747G>A" "" "likely benign" "" "0000608855" "0" "50" "3" "58116478" "58116478" "subst" "0.000611026" "01943" "FLNB_000201" "g.58116478C>G" "" "" "" "FLNB(NM_001164317.1):c.4233C>G (p.F1411L, p.(Phe1411Leu)), FLNB(NM_001457.4):c.4233C>G (p.F1411L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58130751C>G" "" "VUS" "" "0000608856" "0" "30" "3" "58124003" "58124004" "ins" "0" "01804" "FLNB_000222" "g.58124003_58124004insCCCTGAACTTCT" "" "" "" "FLNB(NM_001164317.1):c.4955-6_4955-5insCCCTGAACTTCT (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58138276_58138277insCCCTGAACTTCT" "" "likely benign" "" "0000608857" "0" "30" "3" "58124050" "58124050" "subst" "0.000125939" "01943" "FLNB_000142" "g.58124050G>A" "" "" "" "FLNB(NM_001164317.1):c.4996G>A (p.G1666S, p.(Gly1666Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58138323G>A" "" "likely benign" "" "0000608858" "0" "50" "3" "58124200" "58124200" "subst" "0" "02327" "FLNB_000223" "g.58124200G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58138473G>A" "" "VUS" "" "0000608859" "0" "30" "3" "58127635" "58127635" "subst" "0" "01943" "FLNB_000224" "g.58127635T>C" "" "" "" "FLNB(NM_001164317.1):c.5253T>C (p.C1751=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58141908T>C" "" "likely benign" "" "0000608860" "0" "70" "3" "58129326" "58129326" "subst" "0" "02327" "FLNB_000225" "g.58129326G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58143599G>T" "" "likely pathogenic" "" "0000608861" "0" "70" "3" "58134556" "58134556" "subst" "0" "01804" "FLNB_000226" "g.58134556T>C" "" "" "" "FLNB(NM_001457.3):c.6068T>C (p.(Phe2023Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58148829T>C" "" "likely pathogenic" "" "0000608862" "0" "30" "3" "58140624" "58140624" "subst" "0.00139689" "01943" "FLNB_000162" "g.58140624G>A" "" "" "" "FLNB(NM_001164317.1):c.6834G>A (p.S2278=), FLNB(NM_001164317.2):c.6834G>A (p.S2278=), FLNB(NM_001457.4):c.6741G>A (p.(Ser2247=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58154897G>A" "" "likely benign" "" "0000608863" "0" "30" "3" "58154222" "58154222" "subst" "0.000316736" "01943" "FLNB_000227" "g.58154222C>T" "" "" "" "FLNB(NM_001164317.1):c.7347C>T (p.S2449=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58168495C>T" "" "likely benign" "" "0000621309" "0" "50" "3" "58094909" "58094909" "subst" "9.34655E-5" "02325" "FLNB_000110" "g.58094909G>A" "" "" "" "FLNB(NM_001164317.1):c.2059G>A (p.G687R, p.(Gly687Arg)), FLNB(NM_001164317.2):c.2059G>A (p.G687R), FLNB(NM_001457.4):c.2059G>A (p.G687R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58109182G>A" "" "VUS" "" "0000621310" "0" "30" "3" "58095329" "58095329" "subst" "0" "01943" "FLNB_000218" "g.58095329T>C" "" "" "" "FLNB(NM_001164317.1):c.2226T>C (p.P742=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58109602T>C" "" "likely benign" "" "0000621311" "0" "30" "3" "58116540" "58116540" "subst" "6.94036E-5" "01943" "FLNB_000221" "g.58116540G>C" "" "" "" "FLNB(NM_001164317.1):c.4295G>C (p.G1432A), FLNB(NM_001457.3):c.4295G>C (p.(Gly1432Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58130813G>C" "" "likely benign" "" "0000621312" "0" "90" "3" "58124218" "58124218" "subst" "0" "01943" "FLNB_000010" "g.58124218G>A" "" "" "" "FLNB(NM_001164317.1):c.5164G>A (p.G1722S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58138491G>A" "" "pathogenic" "" "0000621313" "0" "30" "3" "58154223" "58154223" "subst" "0.000418261" "02329" "FLNB_000228" "g.58154223G>A" "" "" "" "FLNB(NM_001164317.2):c.7348G>A (p.V2450I), FLNB(NM_001457.4):c.7255G>A (p.V2419I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58168496G>A" "" "likely benign" "" "0000651313" "1" "50" "3" "57994398" "57994398" "subst" "0.000552338" "03575" "FLNB_000229" "g.57994398G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs142568031}" "Germline" "" "rs142568031" "0" "" "" "g.58008671G>A" "" "VUS" "" "0000651314" "1" "50" "3" "58116552" "58116552" "subst" "0.000163536" "03575" "FLNB_000230" "g.58116552G>A" "2/2755 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs140018418}" "Germline" "" "rs140018418" "0" "" "" "g.58130825G>A" "" "VUS" "" "0000651315" "1" "30" "3" "58134505" "58134505" "subst" "0.0100041" "03575" "FLNB_000150" "g.58134505A>G" "6/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 heterozygous, no homozygous; {DB:CLININrs62621996}" "Germline" "" "rs62621996" "0" "" "" "g.58148778A>G" "" "likely benign" "" "0000651316" "1" "50" "3" "58134535" "58134535" "subst" "0.000317898" "03575" "FLNB_000231" "g.58134535G>A" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs137885421}" "Germline" "" "rs137885421" "0" "" "" "g.58148808G>A" "" "VUS" "" "0000651318" "1" "30" "3" "58140563" "58140563" "subst" "0.00129941" "03575" "FLNB_000160" "g.58140563C>G" "3/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs138327769}" "Germline" "" "rs138327769" "0" "" "" "g.58154836C>G" "" "likely benign" "" "0000655008" "0" "30" "3" "58091058" "58091058" "subst" "0" "02329" "FLNB_000232" "g.58091058G>C" "" "" "" "FLNB(NM_001164317.2):c.1747+115G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58105331G>C" "" "likely benign" "" "0000655009" "0" "50" "3" "58107065" "58107065" "subst" "0" "01804" "FLNB_000233" "g.58107065G>T" "" "" "" "FLNB(NM_001164317.1):c.2961G>T (p.(Lys987Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58121338G>T" "" "VUS" "" "0000655010" "0" "30" "3" "58148900" "58148900" "subst" "0.000483225" "01943" "FLNB_000234" "g.58148900C>A" "" "" "" "FLNB(NM_001164317.1):c.7134C>A (p.F2378L), FLNB(NM_001457.4):c.7041C>A (p.(Phe2347Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58163173C>A" "" "likely benign" "" "0000677073" "0" "30" "3" "58120418" "58120418" "subst" "0.000296427" "01943" "FLNB_000235" "g.58120418T>C" "" "" "" "FLNB(NM_001164317.1):c.4683T>C (p.Y1561=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677074" "0" "50" "3" "58121764" "58121764" "subst" "8.93408E-5" "01943" "FLNB_000236" "g.58121764C>T" "" "" "" "FLNB(NM_001164317.1):c.4823C>T (p.A1608V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677075" "0" "50" "3" "58129330" "58129330" "subst" "0" "02327" "FLNB_000237" "g.58129330C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677076" "0" "50" "3" "58135897" "58135897" "subst" "5.685E-5" "01943" "FLNB_000238" "g.58135897C>T" "" "" "" "FLNB(NM_001164317.1):c.6403C>T (p.R2135W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689132" "0" "30" "3" "58090893" "58090893" "subst" "0.000678228" "01943" "FLNB_000107" "g.58090893G>A" "" "" "" "FLNB(NM_001164317.1):c.1697G>A (p.R566Q, p.(Arg566Gln)), FLNB(NM_001164317.2):c.1697G>A (p.R566Q), FLNB(NM_001457.4):c.1697G>A (p.R566Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689133" "0" "50" "3" "58097534" "58097534" "subst" "0" "01943" "FLNB_000239" "g.58097534C>T" "" "" "" "FLNB(NM_001164317.1):c.2501C>T (p.P834L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689134" "0" "50" "3" "58098044" "58098044" "subst" "8.18759E-6" "01943" "FLNB_000240" "g.58098044A>G" "" "" "" "FLNB(NM_001164317.1):c.2744A>G (p.Q915R, p.(Gln915Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689135" "0" "30" "3" "58127609" "58127609" "subst" "0.000251756" "01943" "FLNB_000241" "g.58127609G>A" "" "" "" "FLNB(NM_001164317.1):c.5227G>A (p.V1743M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689136" "0" "30" "3" "58128415" "58128415" "subst" "0.00080422" "01943" "FLNB_000242" "g.58128415C>T" "" "" "" "FLNB(NM_001164317.1):c.5313C>T (p.N1771=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689137" "0" "10" "3" "58140525" "58140525" "subst" "0.00148213" "01943" "FLNB_000158" "g.58140525C>T" "" "" "" "FLNB(NM_001164317.1):c.6735C>T (p.F2245=), FLNB(NM_001164317.2):c.6735C>T (p.F2245=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000689138" "0" "10" "3" "58140567" "58140567" "subst" "0.00152274" "01943" "FLNB_000161" "g.58140567C>T" "" "" "" "FLNB(NM_001164317.1):c.6777C>T (p.I2259=), FLNB(NM_001164317.2):c.6777C>T (p.I2259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000719567" "0" "30" "3" "57994398" "57994398" "subst" "0.000552338" "01804" "FLNB_000229" "g.57994398G>A" "" "" "" "FLNB(NM_001164317.1):c.107G>A (p.(Arg36His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719568" "0" "90" "3" "58062997" "58062997" "subst" "0" "02329" "FLNB_000100" "g.58062997G>A" "" "" "" "FLNB(NM_001164317.2):c.517G>A (p.A173T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000719569" "0" "50" "3" "58064474" "58064474" "subst" "0" "01943" "FLNB_000064" "g.58064474C>T" "" "" "" "FLNB(NM_001164317.1):c.572C>T (p.P191L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719570" "0" "30" "3" "58089761" "58089761" "subst" "0.00235544" "01804" "FLNB_000105" "g.58089761C>T" "" "" "" "FLNB(NM_001164317.1):c.1559C>T (p.P520L, p.(Pro520Leu)), FLNB(NM_001164317.2):c.1559C>T (p.P520L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719571" "0" "50" "3" "58090836" "58090836" "subst" "0.000121828" "01943" "FLNB_000243" "g.58090836C>T" "" "" "" "FLNB(NM_001164317.1):c.1640C>T (p.A547V), FLNB(NM_001457.4):c.1640C>T (p.(Ala547Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719572" "0" "30" "3" "58094280" "58094280" "subst" "0" "02329" "FLNB_000244" "g.58094280C>T" "" "" "" "FLNB(NM_001164317.2):c.2037C>T (p.P679=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719573" "0" "50" "3" "58094945" "58094945" "subst" "0.000207261" "01943" "FLNB_000180" "g.58094945C>T" "" "" "" "FLNB(NM_001164317.1):c.2095C>T (p.R699W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719574" "0" "50" "3" "58095866" "58095866" "subst" "0.000901523" "01943" "FLNB_000112" "g.58095866G>A" "" "" "" "FLNB(NM_001164317.1):c.2453G>A (p.R818Q), FLNB(NM_001164317.2):c.2453G>A (p.R818Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719575" "0" "50" "3" "58107100" "58107100" "subst" "3.65485E-5" "02329" "FLNB_000185" "g.58107100G>C" "" "" "" "FLNB(NM_001164317.2):c.2996G>C (p.R999P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719576" "0" "30" "3" "58108831" "58108831" "subst" "6.90378E-5" "02329" "FLNB_000245" "g.58108831C>T" "" "" "" "FLNB(NM_001164317.2):c.3138C>T (p.H1046=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719577" "0" "50" "3" "58110104" "58110104" "subst" "2.03037E-5" "01943" "FLNB_000246" "g.58110104C>T" "" "" "" "FLNB(NM_001164317.1):c.3770C>T (p.P1257L), FLNB(NM_001457.4):c.3770C>T (p.(Pro1257Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719578" "0" "30" "3" "58110252" "58110252" "subst" "8.14007E-6" "02329" "FLNB_000247" "g.58110252G>A" "" "" "" "FLNB(NM_001164317.2):c.3898+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719579" "0" "50" "3" "58111467" "58111467" "subst" "0.000593366" "01943" "FLNB_000197" "g.58111467C>G" "" "" "" "FLNB(NM_001164317.1):c.4058C>G (p.T1353S, p.(Thr1353Ser)), FLNB(NM_001457.4):c.4058C>G (p.T1353S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719580" "0" "30" "3" "58112497" "58112497" "subst" "0.00338281" "01943" "FLNB_000169" "g.58112497A>G" "" "" "" "FLNB(NM_001164317.1):c.4222+8A>G (p.(=)), FLNB(NM_001164317.2):c.4222+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719581" "0" "30" "3" "58116478" "58116478" "subst" "0.000611026" "02325" "FLNB_000201" "g.58116478C>G" "" "" "" "FLNB(NM_001164317.1):c.4233C>G (p.F1411L, p.(Phe1411Leu)), FLNB(NM_001457.4):c.4233C>G (p.F1411L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719582" "0" "30" "3" "58128983" "58128983" "subst" "0" "02329" "FLNB_000248" "g.58128983G>A" "" "" "" "FLNB(NM_001164317.2):c.5378-217G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719583" "0" "50" "3" "58134052" "58134052" "subst" "0" "01943" "FLNB_000249" "g.58134052G>A" "" "" "" "FLNB(NM_001164317.1):c.5941G>A (p.E1981K), FLNB(NM_001457.4):c.5848G>A (p.(Glu1950Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719584" "0" "30" "3" "58134452" "58134452" "subst" "0" "01943" "FLNB_000250" "g.58134452C>T" "" "" "" "FLNB(NM_001164317.1):c.6057C>T (p.S2019=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719585" "0" "50" "3" "58134478" "58134478" "subst" "4.06607E-6" "02325" "FLNB_000251" "g.58134478C>T" "" "" "" "FLNB(NM_001457.4):c.5990C>T (p.S1997L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719586" "0" "10" "3" "58139172" "58139172" "subst" "0.00701703" "02329" "FLNB_000252" "g.58139172G>A" "" "" "" "FLNB(NM_001164317.2):c.6531G>A (p.V2177=), FLNB(NM_001457.4):c.6438G>A (p.(Val2146=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000719587" "0" "50" "3" "58141692" "58141692" "subst" "0" "01804" "FLNB_000253" "g.58141692T>G" "" "" "" "FLNB(NM_001164317.1):c.6871T>G (p.(Tyr2291Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719588" "0" "90" "3" "58148888" "58148888" "subst" "4.06095E-6" "02329" "FLNB_000014" "g.58148888T>G" "" "" "" "FLNB(NM_001164317.2):c.7122T>G (p.Y2374*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000719589" "0" "30" "3" "58154214" "58154214" "subst" "1.21819E-5" "01804" "FLNB_000254" "g.58154214A>C" "" "" "" "FLNB(NM_001164317.1):c.7339A>C (p.(Thr2447Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719590" "0" "50" "3" "58154337" "58154337" "subst" "5.68509E-5" "01804" "FLNB_000255" "g.58154337G>A" "" "" "" "FLNB(NM_001164317.1):c.7462G>A (p.(Gly2488Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729957" "1" "90" "3" "58062968" "58062968" "subst" "0" "00000" "FLNB_000056" "g.58062968A>C" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_001164317.1:c.488A>C:(p.Gln163Pro)" "" "Germline" "" "" "0" "" "" "g.58077241A>C" "" "pathogenic (dominant)" "" "0000801346" "0" "50" "3" "57994496" "57994496" "subst" "3.65687E-5" "02325" "FLNB_000256" "g.57994496C>T" "" "" "" "FLNB(NM_001457.3):c.205C>T (p.(Arg69Trp)), FLNB(NM_001457.4):c.205C>T (p.R69W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801347" "0" "30" "3" "57994565" "57994565" "subst" "0.000625853" "01804" "FLNB_000173" "g.57994565A>G" "" "" "" "FLNB(NM_001164317.1):c.274A>G (p.I92V, p.(Ile92Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801348" "0" "50" "3" "58088001" "58088001" "subst" "4.06187E-6" "02325" "FLNB_000257" "g.58088001A>C" "" "" "" "FLNB(NM_001457.4):c.1417A>C (p.T473P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801349" "0" "50" "3" "58098044" "58098044" "subst" "8.18759E-6" "01804" "FLNB_000240" "g.58098044A>G" "" "" "" "FLNB(NM_001164317.1):c.2744A>G (p.Q915R, p.(Gln915Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801350" "0" "50" "3" "58107183" "58107183" "subst" "4.06326E-6" "02327" "FLNB_000258" "g.58107183G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801351" "0" "50" "3" "58110220" "58110220" "subst" "4.4674E-5" "01943" "FLNB_000259" "g.58110220C>T" "" "" "" "FLNB(NM_001164317.1):c.3886C>T (p.P1296S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801352" "0" "50" "3" "58112442" "58112442" "subst" "6.09201E-5" "01943" "FLNB_000260" "g.58112442C>T" "" "" "" "FLNB(NM_001164317.1):c.4175C>T (p.P1392L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801353" "0" "50" "3" "58112451" "58112451" "subst" "0" "02325" "FLNB_000261" "g.58112451A>G" "" "" "" "FLNB(NM_001457.4):c.4184A>G (p.Y1395C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801354" "0" "50" "3" "58117748" "58117748" "subst" "0.000356737" "01943" "FLNB_000262" "g.58117748T>C" "" "" "" "FLNB(NM_001164317.1):c.4483+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801355" "0" "50" "3" "58118639" "58118639" "subst" "0.000447854" "02325" "FLNB_000263" "g.58118639G>A" "" "" "" "FLNB(NM_001164317.1):c.4588G>A (p.(Asp1530Asn)), FLNB(NM_001457.4):c.4495G>A (p.D1499N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801356" "0" "30" "3" "58124076" "58124076" "subst" "0.00113312" "01943" "FLNB_000143" "g.58124076C>T" "" "" "" "FLNB(NM_001164317.1):c.5022C>T (p.A1674=), FLNB(NM_001164317.2):c.5022C>T (p.A1674=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801357" "0" "90" "3" "58124218" "58124218" "subst" "0" "02327" "FLNB_000010" "g.58124218G>A" "" "" "" "FLNB(NM_001164317.1):c.5164G>A (p.G1722S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000801358" "0" "30" "3" "58141747" "58141747" "subst" "4.06078E-6" "02327" "FLNB_000264" "g.58141747T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000846508" "3" "70" "3" "58120373" "58120373" "subst" "0" "00000" "FLNB_000265" "g.58120373T>A" "" "{PMID:Alabdullatif 2017:27717089}" "" "FLNB c.4545T>A, (p.Tyr1515*)" "homozygous" "Germline" "yes" "" "0" "" "" "g.58134646T>A" "" "likely pathogenic" "" "0000850393" "0" "50" "3" "58094994" "58094994" "subst" "0" "02325" "FLNB_000267" "g.58094994A>G" "" "" "" "FLNB(NM_001457.4):c.2144A>G (p.K715R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850394" "0" "30" "3" "58098049" "58098049" "subst" "4.09708E-6" "02325" "FLNB_000269" "g.58098049G>A" "" "" "" "FLNB(NM_001457.4):c.2745+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850395" "0" "50" "3" "58107100" "58107100" "subst" "2.84266E-5" "01943" "FLNB_000270" "g.58107100G>A" "" "" "" "FLNB(NM_001164317.1):c.2996G>A (p.R999Q, p.(Arg999Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850396" "0" "50" "3" "58109211" "58109211" "subst" "0.00010387" "01943" "FLNB_000271" "g.58109211A>C" "" "" "" "FLNB(NM_001164317.1):c.3518A>C (p.D1173A), FLNB(NM_001457.3):c.3518A>C (p.(Asp1173Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850397" "0" "30" "3" "58109287" "58109287" "subst" "0.000362678" "01943" "FLNB_000272" "g.58109287G>A" "" "" "" "FLNB(NM_001164317.1):c.3594G>A (p.T1198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850398" "0" "30" "3" "58117658" "58117658" "subst" "8.00827E-5" "01943" "FLNB_000273" "g.58117658C>T" "" "" "" "FLNB(NM_001164317.1):c.4395C>T (p.D1465=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850399" "0" "50" "3" "58134020" "58134020" "subst" "0.000300823" "01943" "FLNB_000149" "g.58134020C>T" "" "" "" "FLNB(NM_001164317.1):c.5909C>T (p.T1970M, p.(Thr1970Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850400" "0" "90" "3" "58134046" "58134046" "subst" "0" "02327" "FLNB_000274" "g.58134046C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000850401" "0" "50" "3" "58135649" "58135649" "subst" "5.27876E-5" "01943" "FLNB_000275" "g.58135649G>A" "" "" "" "FLNB(NM_001164317.1):c.6257G>A (p.G2086D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850402" "0" "30" "3" "58135902" "58135902" "subst" "0.000682189" "01943" "FLNB_000276" "g.58135902C>T" "" "" "" "FLNB(NM_001164317.1):c.6408C>T (p.A2136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859114" "0" "30" "3" "58084493" "58084493" "subst" "0.000113821" "01943" "FLNB_000104" "g.58084493C>T" "" "" "" "FLNB(NM_001164317.1):c.1203C>T (p.T401=), FLNB(NM_001164317.2):c.1203C>T (p.T401=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859115" "0" "50" "3" "58084539" "58084539" "subst" "1.21881E-5" "01804" "FLNB_000266" "g.58084539G>A" "" "" "" "FLNB(NM_001164317.1):c.1249G>A (p.(Val417Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859116" "0" "50" "3" "58097539" "58097539" "subst" "0" "01943" "FLNB_000268" "g.58097539A>G" "" "" "" "FLNB(NM_001164317.1):c.2506A>G (p.R836G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859117" "0" "50" "3" "58107100" "58107100" "subst" "2.84266E-5" "01804" "FLNB_000270" "g.58107100G>A" "" "" "" "FLNB(NM_001164317.1):c.2996G>A (p.R999Q, p.(Arg999Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859118" "0" "30" "3" "58111431" "58111431" "subst" "0.000873196" "02325" "FLNB_000194" "g.58111431C>G" "" "" "" "FLNB(NM_001164317.1):c.4022C>G (p.A1341G, p.(Ala1341Gly)), FLNB(NM_001457.4):c.4022C>G (p.A1341G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859119" "0" "50" "3" "58121866" "58121866" "subst" "6.10357E-5" "01943" "FLNB_000204" "g.58121866C>T" "" "" "" "FLNB(NM_001164317.1):c.4925C>T (p.T1642M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859120" "0" "30" "3" "58149046" "58149046" "subst" "8.14193E-6" "01804" "FLNB_000277" "g.58149046G>A" "" "" "" "FLNB(NM_001164317.1):c.7280G>A (p.(Gly2427Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885953" "0" "50" "3" "58107068" "58107068" "subst" "8.1213E-6" "02327" "FLNB_000278" "g.58107068C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885954" "0" "90" "3" "58109174" "58109174" "del" "0" "02327" "FLNB_000279" "g.58109174del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000885955" "0" "50" "3" "58110118" "58110118" "subst" "0.000150243" "01804" "FLNB_000280" "g.58110118G>A" "" "" "" "FLNB(NM_001164317.1):c.3784G>A (p.(Gly1262Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885956" "0" "50" "3" "58111449" "58111449" "subst" "0.000178743" "02325" "FLNB_000195" "g.58111449A>G" "" "" "" "FLNB(NM_001164317.1):c.4040A>G (p.N1347S), FLNB(NM_001457.4):c.4040A>G (p.(Asn1347Ser), p.N1347S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885957" "0" "50" "3" "58111467" "58111467" "subst" "0.000593366" "02325" "FLNB_000197" "g.58111467C>G" "" "" "" "FLNB(NM_001164317.1):c.4058C>G (p.T1353S, p.(Thr1353Ser)), FLNB(NM_001457.4):c.4058C>G (p.T1353S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885958" "0" "30" "3" "58117722" "58117722" "subst" "0" "01804" "FLNB_000281" "g.58117722C>T" "" "" "" "FLNB(NM_001164317.1):c.4459C>T (p.(Pro1487Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885959" "0" "50" "3" "58139231" "58139231" "subst" "5.27992E-5" "02325" "FLNB_000282" "g.58139231C>T" "" "" "" "FLNB(NM_001457.4):c.6497C>T (p.T2166M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885960" "0" "50" "3" "58145372" "58145372" "subst" "0" "01804" "FLNB_000283" "g.58145372C>T" "" "" "" "FLNB(NM_001164317.1):c.7073C>T (p.(Ser2358Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885961" "0" "50" "3" "58145375" "58145377" "del" "0" "01804" "FLNB_000284" "g.58145375_58145377del" "" "" "" "FLNB(NM_001164317.1):c.7075_7077del (p.(Gly2359del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885962" "0" "50" "3" "58148980" "58148980" "subst" "5.68528E-5" "01804" "FLNB_000285" "g.58148980G>A" "" "" "" "FLNB(NM_001164317.1):c.7214G>A (p.(Arg2405His)), FLNB(NM_001457.4):c.7121G>A (p.R2374H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885963" "0" "50" "3" "58149042" "58149042" "subst" "0.00013432" "02325" "FLNB_000212" "g.58149042G>A" "" "" "" "FLNB(NM_001457.3):c.7183G>A (p.(Glu2395Lys)), FLNB(NM_001457.4):c.7183G>A (p.E2395K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885964" "0" "50" "3" "58154223" "58154223" "subst" "0.000418261" "02325" "FLNB_000228" "g.58154223G>A" "" "" "" "FLNB(NM_001164317.2):c.7348G>A (p.V2450I), FLNB(NM_001457.4):c.7255G>A (p.V2419I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885965" "0" "50" "3" "58155409" "58155409" "subst" "0.000105579" "02325" "FLNB_000286" "g.58155409G>A" "" "" "" "FLNB(NM_001457.4):c.7510G>A (p.A2504T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885966" "0" "50" "3" "58155449" "58155449" "subst" "8.12163E-6" "01804" "FLNB_000287" "g.58155449C>T" "" "" "" "FLNB(NM_001164317.1):c.7643C>T (p.(Ser2548Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885967" "0" "30" "3" "58156418" "58156418" "subst" "1.21818E-5" "01804" "FLNB_000288" "g.58156418G>A" "" "" "" "FLNB(NM_001164317.1):c.7831G>A (p.(Asp2611Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911984" "0" "30" "3" "58080583" "58080583" "subst" "0.000747548" "01804" "FLNB_000102" "g.58080583A>G" "" "" "" "FLNB(NM_001164317.1):c.808A>G (p.M270V, p.(Met270Val)), FLNB(NM_001164317.2):c.808A>G (p.M270V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911985" "0" "30" "3" "58087983" "58087983" "subst" "5.68736E-5" "01804" "FLNB_000289" "g.58087983G>A" "" "" "" "FLNB(NM_001164317.1):c.1399G>A (p.(Val467Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911986" "0" "50" "3" "58087992" "58087992" "subst" "2.84356E-5" "01804" "FLNB_000290" "g.58087992C>T" "" "" "" "FLNB(NM_001164317.1):c.1408C>T (p.(Arg470Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911987" "0" "30" "3" "58092532" "58092532" "subst" "0.000117867" "01804" "FLNB_000291" "g.58092532G>A" "" "" "" "FLNB(NM_001164317.1):c.1873G>A (p.(Glu625Lys)), FLNB(NM_001457.4):c.1873G>A (p.E625K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911988" "0" "50" "3" "58095421" "58095421" "subst" "1.21885E-5" "02325" "FLNB_000292" "g.58095421G>C" "" "" "" "FLNB(NM_001457.4):c.2318G>C (p.G773A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911989" "0" "50" "3" "58097918" "58097918" "subst" "0" "02325" "FLNB_000293" "g.58097918A>G" "" "" "" "FLNB(NM_001457.4):c.2618A>G (p.K873R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911990" "0" "50" "3" "58118639" "58118639" "subst" "0.000447854" "01804" "FLNB_000263" "g.58118639G>A" "" "" "" "FLNB(NM_001164317.1):c.4588G>A (p.(Asp1530Asn)), FLNB(NM_001457.4):c.4495G>A (p.D1499N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911991" "0" "30" "3" "58139177" "58139177" "subst" "0" "01804" "FLNB_000294" "g.58139177T>C" "" "" "" "FLNB(NM_001164317.1):c.6536T>C (p.(Met2179Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923982" "0" "50" "3" "58095048" "58095048" "subst" "0" "01804" "FLNB_000295" "g.58095048G>C" "" "" "" "FLNB(NM_001164317.1):c.2198G>C (p.(Arg733Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923983" "0" "50" "3" "58108913" "58108913" "subst" "0" "01804" "FLNB_000296" "g.58108913G>A" "" "" "" "FLNB(NM_001164317.1):c.3220G>A (p.(Gly1074Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923984" "0" "50" "3" "58145395" "58145395" "subst" "0" "01804" "FLNB_000297" "g.58145395G>C" "" "" "" "FLNB(NM_001164317.1):c.7096G>C (p.(Val2366Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923985" "0" "50" "3" "58154304" "58154304" "subst" "0" "01804" "FLNB_000298" "g.58154304G>A" "" "" "" "FLNB(NM_001164317.1):c.7429G>A (p.(Ala2477Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928816" "0" "50" "3" "58090893" "58090893" "subst" "0.000678228" "02325" "FLNB_000107" "g.58090893G>A" "" "" "" "FLNB(NM_001164317.1):c.1697G>A (p.R566Q, p.(Arg566Gln)), FLNB(NM_001164317.2):c.1697G>A (p.R566Q), FLNB(NM_001457.4):c.1697G>A (p.R566Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928817" "0" "90" "3" "58090936" "58090936" "dup" "0" "02329" "FLNB_000299" "g.58090936dup" "" "" "" "FLNB(NM_001164317.2):c.1740dupG (p.S581Vfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000928818" "0" "30" "3" "58095901" "58095901" "subst" "2.84271E-5" "01804" "FLNB_000300" "g.58095901C>T" "" "" "" "FLNB(NM_001164317.1):c.2484+4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928819" "0" "50" "3" "58097936" "58097936" "subst" "2.43865E-5" "02325" "FLNB_000301" "g.58097936C>T" "" "" "" "FLNB(NM_001457.4):c.2636C>T (p.P879L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928820" "0" "90" "3" "58121803" "58121803" "subst" "0" "02327" "FLNB_000302" "g.58121803T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000948198" "0" "50" "3" "58064512" "58064512" "del" "0" "02327" "FLNB_000303" "g.58064512del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948199" "0" "50" "3" "58067477" "58067477" "subst" "0" "02327" "FLNB_000304" "g.58067477C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948200" "0" "50" "3" "58104632" "58104632" "subst" "2.84301E-5" "02325" "FLNB_000305" "g.58104632G>A" "" "" "" "FLNB(NM_001457.4):c.2779G>A (p.D927N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948201" "0" "30" "3" "58111431" "58111431" "subst" "0.000873196" "01804" "FLNB_000194" "g.58111431C>G" "" "" "" "FLNB(NM_001164317.1):c.4022C>G (p.A1341G, p.(Ala1341Gly)), FLNB(NM_001457.4):c.4022C>G (p.A1341G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948202" "0" "30" "3" "58127623" "58127623" "subst" "4.87274E-5" "01804" "FLNB_000306" "g.58127623G>A" "" "" "" "FLNB(NM_001164317.1):c.5241G>A (p.(Pro1747=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948203" "0" "50" "3" "58148980" "58148980" "subst" "5.68528E-5" "02325" "FLNB_000285" "g.58148980G>A" "" "" "" "FLNB(NM_001164317.1):c.7214G>A (p.(Arg2405His)), FLNB(NM_001457.4):c.7121G>A (p.R2374H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000962861" "0" "30" "3" "58095874" "58095874" "subst" "1.21826E-5" "01804" "FLNB_000307" "g.58095874A>G" "" "" "" "FLNB(NM_001457.3):c.2461A>G (p.(Ile821Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962863" "0" "30" "3" "58110119" "58110119" "subst" "0.00494997" "02329" "FLNB_000193" "g.58110119G>C" "" "" "" "FLNB(NM_001164317.1):c.3785G>C (p.(Gly1262Ala)), FLNB(NM_001164317.2):c.3785G>C (p.G1262A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962864" "0" "30" "3" "58117711" "58117711" "subst" "0" "02325" "FLNB_000309" "g.58117711T>C" "" "" "" "FLNB(NM_001457.4):c.4391-824T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962865" "0" "30" "3" "58123737" "58123737" "subst" "0" "02329" "FLNB_000310" "g.58123737A>G" "" "" "" "FLNB(NM_001164317.2):c.4955-272A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962866" "0" "50" "3" "58134516" "58134516" "subst" "0.00021966" "02325" "FLNB_000151" "g.58134516C>T" "" "" "" "FLNB(NM_001164317.2):c.6121C>T (p.R2041C), FLNB(NM_001457.3):c.6028C>T (p.(Arg2010Cys)), FLNB(NM_001457.4):c.6028C>T (p.R2010C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975947" "0" "50" "3" "57994496" "57994496" "subst" "3.65687E-5" "01804" "FLNB_000256" "g.57994496C>T" "" "" "" "FLNB(NM_001457.3):c.205C>T (p.(Arg69Trp)), FLNB(NM_001457.4):c.205C>T (p.R69W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975948" "0" "50" "3" "58063008" "58063008" "subst" "1.62776E-5" "01804" "FLNB_000311" "g.58063008C>G" "" "" "" "FLNB(NM_001457.4):c.528C>G (p.(Asp176Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975949" "0" "10" "3" "58090803" "58090803" "subst" "0.0444777" "01804" "FLNB_000106" "g.58090803G>A" "" "" "" "FLNB(NM_001164317.2):c.1611-4G>A, FLNB(NM_001457.4):c.1611-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000975950" "0" "50" "3" "58094954" "58094954" "subst" "0.000219484" "01804" "FLNB_000312" "g.58094954G>A" "" "" "" "FLNB(NM_001457.4):c.2104G>A (p.(Gly702Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975951" "0" "50" "3" "58095400" "58095400" "subst" "2.84319E-5" "01804" "FLNB_000313" "g.58095400C>T" "" "" "" "FLNB(NM_001457.3):c.2297C>T (p.(Thr766Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975952" "0" "30" "3" "58098049" "58098049" "subst" "4.09708E-6" "01804" "FLNB_000269" "g.58098049G>A" "" "" "" "FLNB(NM_001457.4):c.2745+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975953" "0" "50" "3" "58106996" "58106996" "subst" "8.12513E-6" "01804" "FLNB_000314" "g.58106996C>G" "" "" "" "FLNB(NM_001457.4):c.2892C>G (p.(Phe964Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975954" "0" "50" "3" "58109363" "58109363" "subst" "0" "01804" "FLNB_000315" "g.58109363C>T" "" "" "" "FLNB(NM_001457.4):c.3670C>T (p.(Pro1224Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975955" "0" "30" "3" "58110105" "58110105" "subst" "0.00673278" "01804" "FLNB_000128" "g.58110105G>A" "" "" "" "FLNB(NM_001164317.2):c.3771G>A (p.P1257=), FLNB(NM_001457.4):c.3771G>A (p.(Pro1257=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975956" "0" "50" "3" "58112379" "58112379" "subst" "4.46715E-5" "02325" "FLNB_000199" "g.58112379C>T" "" "" "" "FLNB(NM_001457.4):c.4112C>T (p.S1371L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975957" "0" "30" "3" "58116839" "58116839" "subst" "0" "01804" "FLNB_000316" "g.58116839C>T" "" "" "" "FLNB(NM_001457.4):c.4390+204C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975958" "0" "30" "3" "58124189" "58124189" "subst" "2.84581E-5" "01804" "FLNB_000317" "g.58124189C>T" "" "" "" "FLNB(NM_001457.4):c.5042C>T (p.(Pro1681Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975959" "0" "50" "3" "58128383" "58128383" "subst" "2.45495E-5" "01804" "FLNB_000318" "g.58128383G>A" "" "" "" "FLNB(NM_001457.4):c.5188G>A (p.(Glu1730Lys), p.E1730K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975960" "0" "50" "3" "58129242" "58129242" "subst" "2.84262E-5" "01804" "FLNB_000319" "g.58129242T>C" "" "" "" "FLNB(NM_001457.4):c.5327T>C (p.(Ile1776Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975961" "0" "50" "3" "58134052" "58134052" "subst" "0" "01804" "FLNB_000249" "g.58134052G>A" "" "" "" "FLNB(NM_001164317.1):c.5941G>A (p.E1981K), FLNB(NM_001457.4):c.5848G>A (p.(Glu1950Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975962" "0" "30" "3" "58140638" "58140638" "subst" "0.00089744" "01804" "FLNB_000320" "g.58140638A>T" "" "" "" "FLNB(NM_001457.3):c.6755A>T (p.(Tyr2252Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975963" "0" "50" "3" "58148895" "58148895" "subst" "5.27914E-5" "01804" "FLNB_000321" "g.58148895C>T" "" "" "" "FLNB(NM_001457.4):c.7036C>T (p.(Arg2346Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975964" "0" "30" "3" "58148900" "58148900" "subst" "0.000483225" "01804" "FLNB_000234" "g.58148900C>A" "" "" "" "FLNB(NM_001164317.1):c.7134C>A (p.F2378L), FLNB(NM_001457.4):c.7041C>A (p.(Phe2347Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975965" "0" "50" "3" "58149034" "58149034" "subst" "2.44053E-5" "01804" "FLNB_000322" "g.58149034C>T" "" "" "" "FLNB(NM_001457.3):c.7175C>T (p.(Thr2392Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975966" "0" "50" "3" "58156440" "58156440" "subst" "0.000154313" "01804" "FLNB_000323" "g.58156440G>T" "" "" "" "FLNB(NM_001457.4):c.7760G>T (p.(Trp2587Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000985249" "21" "90" "3" "58094188" "58094188" "subst" "0" "04689" "FLNB_000012" "g.58094188C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58108461C>T" "" "pathogenic (recessive)" "" "0000985250" "11" "70" "3" "58104627" "58104627" "subst" "1.62462E-5" "04689" "FLNB_000324" "g.58104627G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58118900G>A" "" "likely pathogenic" "" "0000985251" "21" "90" "3" "58095865" "58095865" "subst" "4.06088E-6" "04689" "FLNB_000002" "g.58095865C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58110138C>T" "" "pathogenic (recessive)" "" "0000985252" "11" "90" "3" "58121853" "58121853" "subst" "3.68713E-5" "04689" "FLNB_000003" "g.58121853C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58136126C>T" "" "pathogenic (recessive)" "" "0000993843" "0" "30" "3" "57994465" "57994465" "subst" "0" "01804" "FLNB_000325" "g.57994465C>G" "" "" "" "FLNB(NM_001457.3):c.174C>G (p.(Ser58Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993844" "0" "30" "3" "57994473" "57994473" "subst" "4.06194E-6" "01804" "FLNB_000326" "g.57994473G>T" "" "" "" "FLNB(NM_001457.3):c.182G>T (p.(Arg61Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993845" "0" "30" "3" "58080640" "58080640" "subst" "4.87531E-5" "01804" "FLNB_000327" "g.58080640G>A" "" "" "" "FLNB(NM_001457.3):c.865G>A (p.(Val289Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993846" "0" "50" "3" "58089794" "58089794" "subst" "0" "01804" "FLNB_000328" "g.58089794G>A" "" "" "" "FLNB(NM_001457.3):c.1592G>A (p.(Gly531Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993847" "0" "50" "3" "58090892" "58090892" "subst" "8.12262E-6" "01804" "FLNB_000329" "g.58090892C>T" "" "" "" "FLNB(NM_001457.3):c.1696C>T (p.(Arg566Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993848" "0" "30" "3" "58092578" "58092578" "subst" "0.00253352" "01804" "FLNB_000330" "g.58092578C>T" "" "" "" "FLNB(NM_001457.3):c.1919C>T (p.(Thr640Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993849" "0" "30" "3" "58104603" "58104603" "subst" "0" "01804" "FLNB_000331" "g.58104603A>G" "" "" "" "FLNB(NM_001457.3):c.2750A>G (p.(Asn917Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993850" "0" "30" "3" "58104626" "58104626" "subst" "0.000714854" "01804" "FLNB_000332" "g.58104626G>T" "" "" "" "FLNB(NM_001457.3):c.2773G>T (p.(Gly925Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993851" "0" "50" "3" "58107141" "58107141" "subst" "0" "01804" "FLNB_000333" "g.58107141C>A" "" "" "" "FLNB(NM_001457.3):c.3037C>A (p.(Leu1013Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993852" "0" "50" "3" "58109211" "58109211" "subst" "0.00010387" "01804" "FLNB_000271" "g.58109211A>C" "" "" "" "FLNB(NM_001164317.1):c.3518A>C (p.D1173A), FLNB(NM_001457.3):c.3518A>C (p.(Asp1173Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993853" "0" "50" "3" "58110211" "58110211" "subst" "4.06091E-6" "02325" "FLNB_000334" "g.58110211G>A" "" "" "" "FLNB(NM_001457.4):c.3877G>A (p.E1293K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993854" "0" "50" "3" "58112333" "58112333" "subst" "3.24958E-5" "01804" "FLNB_000335" "g.58112333G>A" "" "" "" "FLNB(NM_001457.3):c.4066G>A (p.(Ala1356Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993855" "0" "50" "3" "58116527" "58116527" "subst" "1.22431E-5" "01804" "FLNB_000336" "g.58116527G>A" "" "" "" "FLNB(NM_001457.3):c.4282G>A (p.(Gly1428Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993856" "0" "50" "3" "58116540" "58116540" "subst" "6.94036E-5" "01804" "FLNB_000221" "g.58116540G>C" "" "" "" "FLNB(NM_001164317.1):c.4295G>C (p.G1432A), FLNB(NM_001457.3):c.4295G>C (p.(Gly1432Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993857" "0" "50" "3" "58121806" "58121806" "subst" "0" "01804" "FLNB_000337" "g.58121806G>T" "" "" "" "FLNB(NM_001457.3):c.4772G>T (p.(Gly1591Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993858" "0" "50" "3" "58131687" "58131687" "subst" "8.12123E-6" "01804" "FLNB_000338" "g.58131687G>A" "" "" "" "FLNB(NM_001457.3):c.5465G>A (p.(Gly1822Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993859" "0" "50" "3" "58131704" "58131704" "subst" "0" "01804" "FLNB_000339" "g.58131704G>T" "" "" "" "FLNB(NM_001457.3):c.5482G>T (p.(Gly1828Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993860" "0" "50" "3" "58132565" "58132565" "subst" "0" "01804" "FLNB_000340" "g.58132565T>C" "" "" "" "FLNB(NM_001457.3):c.5573T>C (p.(Ile1858Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993861" "0" "50" "3" "58134402" "58134402" "subst" "0" "01804" "FLNB_000341" "g.58134402G>A" "" "" "" "FLNB(NM_001457.3):c.5914G>A (p.(Gly1972Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993862" "0" "50" "3" "58134440" "58134440" "subst" "1.21892E-5" "01804" "FLNB_000342" "g.58134440T>G" "" "" "" "FLNB(NM_001457.3):c.5952T>G (p.(His1984Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993863" "0" "50" "3" "58134516" "58134516" "subst" "0.00021966" "01804" "FLNB_000151" "g.58134516C>T" "" "" "" "FLNB(NM_001164317.2):c.6121C>T (p.R2041C), FLNB(NM_001457.3):c.6028C>T (p.(Arg2010Cys)), FLNB(NM_001457.4):c.6028C>T (p.R2010C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993864" "0" "30" "3" "58139149" "58139149" "subst" "2.03034E-5" "01804" "FLNB_000343" "g.58139149C>T" "" "" "" "FLNB(NM_001457.3):c.6415C>T (p.(Arg2139Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993865" "0" "30" "3" "58154200" "58154200" "subst" "0.000150246" "01804" "FLNB_000344" "g.58154200G>A" "" "" "" "FLNB(NM_001457.3):c.7232G>A (p.(Arg2411Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993866" "0" "30" "3" "58155343" "58155343" "subst" "1.62437E-5" "01804" "FLNB_000345" "g.58155343G>C" "" "" "" "FLNB(NM_001457.3):c.7444G>C (p.(Ala2482Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993867" "0" "30" "3" "58155398" "58155398" "subst" "0" "01804" "FLNB_000346" "g.58155398C>G" "" "" "" "FLNB(NM_001457.3):c.7499C>G (p.(Thr2500Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013913" "0" "50" "3" "58128383" "58128383" "subst" "2.45495E-5" "02325" "FLNB_000318" "g.58128383G>A" "" "" "" "FLNB(NM_001457.4):c.5188G>A (p.(Glu1730Lys), p.E1730K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024855" "0" "90" "3" "58063012" "58063012" "subst" "0" "02325" "FLNB_000347" "g.58063012T>C" "" "" "" "FLNB(NM_001457.4):c.532T>C (p.C178R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001024856" "0" "50" "3" "58092532" "58092532" "subst" "0.000117867" "02325" "FLNB_000291" "g.58092532G>A" "" "" "" "FLNB(NM_001164317.1):c.1873G>A (p.(Glu625Lys)), FLNB(NM_001457.4):c.1873G>A (p.E625K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024857" "0" "50" "3" "58135734" "58135734" "subst" "4.06055E-6" "02325" "FLNB_000210" "g.58135734G>A" "" "" "" "FLNB(NM_001457.4):c.6244+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024858" "0" "50" "3" "58139108" "58139108" "subst" "8.12381E-6" "02325" "FLNB_000349" "g.58139108A>G" "" "" "" "FLNB(NM_001457.4):c.6374A>G (p.N2125S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027559" "0" "70" "3" "58121766" "58121766" "subst" "0" "00006" "FLNB_000348" "g.58121766G>C" "" "{PMID:Boissel 2017:29261186}" "" "" "" "De novo" "" "" "0" "" "" "g.58136039G>C" "" "likely pathogenic (dominant)" "" "0001034114" "0" "50" "3" "57990472" "57990473" "ins" "0" "01804" "FLNB_000350" "g.57990472_57990473insCT" "" "" "" "FLNB(NM_001457.4):c.-3820_-3819insCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034115" "0" "50" "3" "57994401" "57994401" "subst" "0" "01804" "FLNB_000351" "g.57994401T>G" "" "" "" "FLNB(NM_001457.4):c.110T>G (p.(Ile37Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034116" "0" "30" "3" "57994830" "57994830" "subst" "0" "01804" "FLNB_000352" "g.57994830G>A" "" "" "" "FLNB(NM_001457.4):c.292+247G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034117" "0" "30" "3" "58003255" "58003255" "subst" "0" "01804" "FLNB_000353" "g.58003255C>T" "" "" "" "FLNB(NM_001457.4):c.292+8672C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034118" "0" "30" "3" "58042049" "58042049" "subst" "0" "01804" "FLNB_000354" "g.58042049C>T" "" "" "" "FLNB(NM_001457.4):c.293-20724C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034119" "0" "50" "3" "58067471" "58067471" "subst" "0" "01804" "FLNB_000355" "g.58067471T>C" "" "" "" "FLNB(NM_001457.4):c.755T>C (p.(Leu252Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034120" "0" "50" "3" "58080584" "58080584" "subst" "0" "01804" "FLNB_000356" "g.58080584T>C" "" "" "" "FLNB(NM_001457.4):c.809T>C (p.(Met270Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034121" "0" "50" "3" "58090836" "58090836" "subst" "0.000121828" "01804" "FLNB_000243" "g.58090836C>T" "" "" "" "FLNB(NM_001164317.1):c.1640C>T (p.A547V), FLNB(NM_001457.4):c.1640C>T (p.(Ala547Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034122" "0" "50" "3" "58090854" "58090854" "subst" "4.06098E-5" "01804" "FLNB_000357" "g.58090854G>A" "" "" "" "FLNB(NM_001457.4):c.1658G>A (p.(Arg553His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034123" "0" "50" "3" "58090896" "58090896" "subst" "2.43671E-5" "01804" "FLNB_000358" "g.58090896C>T" "" "" "" "FLNB(NM_001457.4):c.1700C>T (p.(Ser567Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034124" "0" "10" "3" "58092528" "58092528" "subst" "0.0359523" "01804" "FLNB_000108" "g.58092528C>T" "" "" "" "FLNB(NM_001164317.2):c.1869C>T (p.D623=), FLNB(NM_001457.4):c.1869C>T (p.(Asp623=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001034125" "0" "30" "3" "58095795" "58095795" "subst" "0.000755428" "01804" "FLNB_000359" "g.58095795C>T" "" "" "" "FLNB(NM_001457.4):c.2382C>T (p.(Asp794=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034126" "0" "10" "3" "58097526" "58097526" "subst" "0.00146648" "01804" "FLNB_000113" "g.58097526C>T" "" "" "" "FLNB(NM_001164317.1):c.2493C>T (p.P831=), FLNB(NM_001164317.2):c.2493C>T (p.P831=), FLNB(NM_001457.4):c.2493C>T (p.(Pro831=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001034127" "0" "50" "3" "58097944" "58097944" "subst" "8.53305E-5" "01804" "FLNB_000360" "g.58097944G>C" "" "" "" "FLNB(NM_001457.4):c.2644G>C (p.(Val882Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034128" "0" "30" "3" "58109426" "58109426" "subst" "0" "01804" "FLNB_000190" "g.58109426C>A" "" "" "" "FLNB(NM_001164317.1):c.3724+9C>A, FLNB(NM_001457.4):c.3724+9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034129" "0" "30" "3" "58110191" "58110191" "subst" "0.00711849" "01804" "FLNB_000130" "g.58110191C>T" "" "" "" "FLNB(NM_001164317.2):c.3857C>T (p.A1286V), FLNB(NM_001457.4):c.3857C>T (p.(Ala1286Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034130" "0" "50" "3" "58111304" "58111304" "subst" "0" "01804" "FLNB_000361" "g.58111304G>A" "" "" "" "FLNB(NM_001457.4):c.3899-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034131" "0" "50" "3" "58111442" "58111458" "del" "0" "01804" "FLNB_000362" "g.58111442_58111458del" "" "" "" "FLNB(NM_001457.4):c.4033_4049del (p.(Lys1345Argfs*16))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034132" "0" "30" "3" "58111449" "58111449" "subst" "0.000178743" "01804" "FLNB_000195" "g.58111449A>G" "" "" "" "FLNB(NM_001164317.1):c.4040A>G (p.N1347S), FLNB(NM_001457.4):c.4040A>G (p.(Asn1347Ser), p.N1347S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034133" "0" "50" "3" "58112364" "58112364" "subst" "0" "01804" "FLNB_000363" "g.58112364A>C" "" "" "" "FLNB(NM_001457.4):c.4097A>C (p.(Glu1366Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034134" "0" "50" "3" "58116533" "58116533" "subst" "1.63243E-5" "01804" "FLNB_000364" "g.58116533G>A" "" "" "" "FLNB(NM_001457.4):c.4288G>A (p.(Gly1430Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034135" "0" "50" "3" "58116635" "58116635" "subst" "4.21546E-6" "01804" "FLNB_000365" "g.58116635G>C" "" "" "" "FLNB(NM_001457.4):c.4390G>C (p.(Gly1464Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034136" "0" "30" "3" "58117252" "58117252" "subst" "0" "01804" "FLNB_000366" "g.58117252C>T" "" "" "" "FLNB(NM_001457.4):c.4390+617C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034137" "0" "10" "3" "58120327" "58120334" "del" "0" "01804" "FLNB_000367" "g.58120327_58120334del" "" "" "" "FLNB(NM_001457.4):c.4515-16_4515-9del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001034138" "0" "30" "3" "58124019" "58124019" "subst" "0.00405816" "01804" "FLNB_000141" "g.58124019C>T" "" "" "" "FLNB(NM_001164317.1):c.4965C>T (p.I1655=), FLNB(NM_001164317.2):c.4965C>T (p.I1655=), FLNB(NM_001457.4):c.4872C>T (p.(Ile1624=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034139" "0" "30" "3" "58124238" "58124238" "subst" "0.0060844" "01804" "FLNB_000368" "g.58124238C>T" "" "" "" "FLNB(NM_001457.4):c.5091C>T (p.(Asn1697=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034140" "0" "30" "3" "58131638" "58131638" "subst" "0.00672482" "01804" "FLNB_000146" "g.58131638G>A" "" "" "" "FLNB(NM_001164317.2):c.5519-10G>A, FLNB(NM_001457.4):c.5426-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034141" "0" "30" "3" "58139172" "58139172" "subst" "0.00701703" "01804" "FLNB_000252" "g.58139172G>A" "" "" "" "FLNB(NM_001164317.2):c.6531G>A (p.V2177=), FLNB(NM_001457.4):c.6438G>A (p.(Val2146=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034142" "0" "50" "3" "58139224" "58139224" "subst" "6.49815E-5" "02325" "FLNB_000155" "g.58139224G>A" "" "" "" "FLNB(NM_001164317.1):c.6583G>A (p.V2195M), FLNB(NM_001457.4):c.6490G>A (p.V2164M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034143" "0" "50" "3" "58156370" "58156370" "subst" "7.30935E-5" "01804" "FLNB_000369" "g.58156370G>A" "" "" "" "FLNB(NM_001457.4):c.7690G>A (p.(Val2564Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045308" "0" "90" "3" "58097549" "58097549" "subst" "0" "00006" "FLNB_000370" "g.58097549T>A" "" "{PMID:Ranza 2017:28229453}" "" "" "" "De novo" "" "" "0" "" "" "g.58111822T>A" "" "pathogenic (dominant)" "" "0001048190" "0" "70" "3" "58089803" "58089803" "subst" "0" "00006" "FLNB_000371" "g.58089803T>G" "" "{PMID:Plachy 2019:30753492}" "" "" "" "Germline" "" "" "0" "" "" "g.58104076T>G" "" "likely pathogenic" "" "0001051374" "0" "50" "3" "58080683" "58080683" "subst" "0" "01804" "FLNB_000372" "g.58080683T>G" "" "" "" "FLNB(NM_001457.4):c.906+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051375" "0" "50" "3" "58087993" "58087993" "subst" "2.43726E-5" "01804" "FLNB_000373" "g.58087993G>A" "" "" "" "FLNB(NM_001457.4):c.1409G>A (p.(Arg470Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051376" "0" "50" "3" "58090811" "58090811" "subst" "3.2486E-5" "01804" "FLNB_000374" "g.58090811T>C" "" "" "" "FLNB(NM_001457.4):c.1615T>C (p.(Phe539Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051377" "0" "50" "3" "58094999" "58094999" "subst" "8.13577E-6" "01804" "FLNB_000375" "g.58094999A>T" "" "" "" "FLNB(NM_001457.4):c.2149A>T (p.(Thr717Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051378" "0" "50" "3" "58109109" "58109109" "subst" "2.03064E-5" "01804" "FLNB_000376" "g.58109109C>T" "" "" "" "FLNB(NM_001457.4):c.3416C>T (p.(Ser1139Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051379" "0" "50" "3" "58110104" "58110104" "subst" "2.03037E-5" "01804" "FLNB_000246" "g.58110104C>T" "" "" "" "FLNB(NM_001164317.1):c.3770C>T (p.P1257L), FLNB(NM_001457.4):c.3770C>T (p.(Pro1257Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051380" "0" "50" "3" "58111460" "58111460" "subst" "4.06388E-6" "01804" "FLNB_000196" "g.58111460G>A" "" "" "" "FLNB(NM_001164317.1):c.4051G>A (p.V1351M), FLNB(NM_001457.4):c.4051G>A (p.(Val1351Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051381" "0" "50" "3" "58117746" "58117746" "subst" "0" "01804" "FLNB_000377" "g.58117746G>A" "" "" "" "FLNB(NM_001164317.2):c.4483G>A (p.(Gly1495Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051382" "0" "50" "3" "58121793" "58121793" "subst" "0" "01804" "FLNB_000378" "g.58121793C>T" "" "" "" "FLNB(NM_001457.4):c.4759C>T (p.(Arg1587Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051383" "0" "30" "3" "58131644" "58131644" "subst" "0" "01804" "FLNB_000379" "g.58131644C>T" "" "" "" "FLNB(NM_001457.4):c.5426-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001051384" "0" "50" "3" "58135706" "58135706" "subst" "4.06055E-6" "01804" "FLNB_000380" "g.58135706A>G" "" "" "" "FLNB(NM_001457.4):c.6221A>G (p.(Lys2074Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051385" "0" "30" "3" "58139150" "58139150" "subst" "0.000101524" "01804" "FLNB_000381" "g.58139150G>A" "" "" "" "FLNB(NM_001457.4):c.6416G>A (p.(Arg2139His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001051386" "0" "50" "3" "58139335" "58139335" "subst" "0" "01804" "FLNB_000382" "g.58139335C>T" "" "" "" "FLNB(NM_001457.4):c.6601C>T (p.(Pro2201Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051387" "0" "30" "3" "58140624" "58140624" "subst" "0.00139689" "01804" "FLNB_000162" "g.58140624G>A" "" "" "" "FLNB(NM_001164317.1):c.6834G>A (p.S2278=), FLNB(NM_001164317.2):c.6834G>A (p.S2278=), FLNB(NM_001457.4):c.6741G>A (p.(Ser2247=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 FLNB ## Count = 549 "{{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}}" "0000003872" "00000835" "30" "292" "136" "292" "136" "c.292+136T>A" "r.(?)" "p.(=)" "1i" "" "0000003873" "00000835" "30" "6889" "-18" "6889" "-18" "c.6889-18G>A" "r.(=)" "p.(=)" "41i" "" "0000011854" "00000835" "30" "-95" "0" "-95" "0" "c.-95C>G" "r.(-95c>g)" "p.(=)" "1" "" "0000011855" "00000835" "30" "292" "136" "292" "136" "c.292+136T>A" "r.(=)" "p.(=)" "1i" "" "0000011856" "00000835" "30" "6889" "-18" "6889" "-18" "c.6889-18G>A" "r.(=)" "p.(=)" "41i" "" "0000132352" "00000835" "70" "1088" "0" "1088" "0" "c.1088G>T" "r.(?)" "p.(Gly363Val)" "7" "" "0000169414" "00000835" "00" "7120" "0" "7120" "0" "c.7120C>T" "r.(?)" "p.(Arg2374Cys)" "" "" "0000248299" "00000835" "10" "4173" "0" "4173" "0" "c.4173A>G" "r.(?)" "p.(Ala1391=)" "" "" "0000249982" "00000835" "30" "808" "0" "808" "0" "c.808A>G" "r.(?)" "p.(Met270Val)" "" "" "0000250011" "00000835" "10" "3724" "36" "3724" "36" "c.3724+36del" "r.(=)" "p.(=)" "" "" "0000250034" "00000835" "10" "4173" "0" "4173" "0" "c.4173A>G" "r.(?)" "p.(Ala1391=)" "" "" "0000250151" "00000835" "10" "6017" "0" "6017" "0" "c.6017A>G" "r.(?)" "p.(Lys2006Arg)" "" "" "0000250196" "00000835" "10" "4222" "8" "4222" "8" "c.4222+8A>G" "r.(=)" "p.(=)" "" "" "0000250871" "00000835" "10" "3724" "36" "3724" "36" "c.3724+36del" "r.(=)" "p.(=)" "" "" "0000254073" "00000835" "30" "808" "0" "808" "0" "c.808A>G" "r.(?)" "p.(Met270Val)" "" "" "0000280831" "00000835" "10" "6889" "-18" "6889" "-18" "c.6889-18G>A" "r.(=)" "p.(=)" "" "" "0000280832" "00000835" "30" "6956" "0" "6956" "0" "c.6956T>C" "r.(?)" "p.(Ile2319Thr)" "" "" "0000283267" "00000835" "30" "1203" "0" "1203" "0" "c.1203C>T" "r.(?)" "p.(Thr401=)" "" "" "0000283268" "00000835" "10" "1611" "-4" "1611" "-4" "c.1611-4G>A" "r.spl?" "p.?" "" "" "0000283269" "00000835" "10" "1869" "0" "1869" "0" "c.1869C>T" "r.(?)" "p.(Asp623=)" "" "" "0000283270" "00000835" "30" "1998" "0" "1998" "0" "c.1998C>T" "r.(?)" "p.(Ala666=)" "" "" "0000283271" "00000835" "30" "2059" "0" "2059" "0" "c.2059G>A" "r.(?)" "p.(Gly687Arg)" "" "" "0000283272" "00000835" "30" "2453" "0" "2453" "0" "c.2453G>A" "r.(?)" "p.(Arg818Gln)" "" "" "0000283273" "00000835" "30" "2493" "0" "2493" "0" "c.2493C>T" "r.(?)" "p.(Pro831=)" "" "" "0000283274" "00000835" "30" "2637" "0" "2637" "0" "c.2637G>C" "r.(?)" "p.(Pro879=)" "" "" "0000283275" "00000835" "30" "292" "12" "292" "12" "c.292+12G>C" "r.(=)" "p.(=)" "" "" "0000283276" "00000835" "30" "292" "14" "292" "14" "c.292+14C>G" "r.(=)" "p.(=)" "" "" "0000283277" "00000835" "10" "3469" "0" "3469" "0" "c.3469G>A" "r.(?)" "p.(Asp1157Asn)" "" "" "0000283278" "00000835" "10" "3724" "35" "3724" "36" "c.3724+35_3724+36del" "r.(=)" "p.(=)" "" "" "0000283279" "00000835" "10" "3724" "36" "3724" "36" "c.3724+36dup" "r.(=)" "p.(=)" "" "" "0000283280" "00000835" "10" "3724" "34" "3724" "36" "c.3724+34_3724+36del" "r.(=)" "p.(=)" "" "" "0000283283" "00000835" "10" "3771" "0" "3771" "0" "c.3771G>A" "r.(?)" "p.(Pro1257=)" "" "" "0000283284" "00000835" "10" "3857" "0" "3857" "0" "c.3857C>T" "r.(?)" "p.(Ala1286Val)" "" "" "0000283285" "00000835" "10" "4221" "0" "4221" "0" "c.4221C>T" "r.(?)" "p.(Pro1407=)" "" "" "0000283286" "00000835" "10" "4391" "-871" "4391" "-871" "c.4391-871G>A" "r.(=)" "p.(=)" "" "" "0000283287" "00000835" "10" "4391" "-811" "4391" "-811" "c.4391-811G>A" "r.(=)" "p.(=)" "" "" "0000283288" "00000835" "10" "4411" "0" "4411" "0" "c.4411G>A" "r.(?)" "p.(Val1471Met)" "" "" "0000283289" "00000835" "10" "4671" "11" "4671" "11" "c.4671+11G>A" "r.(=)" "p.(=)" "" "" "0000283290" "00000835" "10" "4872" "0" "4872" "0" "c.4872C>T" "r.(?)" "p.(Ile1624=)" "" "" "0000283291" "00000835" "10" "4929" "0" "4929" "0" "c.4929C>T" "r.(?)" "p.(Ala1643=)" "" "" "0000283292" "00000835" "10" "5426" "-10" "5426" "-10" "c.5426-10G>A" "r.(=)" "p.(=)" "" "" "0000283293" "00000835" "30" "6028" "0" "6028" "0" "c.6028C>T" "r.(?)" "p.(Arg2010Cys)" "" "" "0000283294" "00000835" "30" "6642" "0" "6642" "0" "c.6642C>T" "r.(?)" "p.(Phe2214=)" "" "" "0000283295" "00000835" "30" "6684" "0" "6684" "0" "c.6684C>T" "r.(?)" "p.(Ile2228=)" "" "" "0000283296" "00000835" "30" "6741" "0" "6741" "0" "c.6741G>A" "r.(?)" "p.(Ser2247=)" "" "" "0000283297" "00000835" "10" "6889" "-18" "6889" "-18" "c.6889-18G>A" "r.(=)" "p.(=)" "" "" "0000283298" "00000835" "10" "6956" "0" "6956" "0" "c.6956T>C" "r.(?)" "p.(Ile2319Thr)" "" "" "0000283299" "00000835" "10" "7209" "0" "7209" "0" "c.7209G>A" "r.(?)" "p.(Ser2403=)" "" "" "0000283300" "00000835" "10" "7359" "0" "7359" "0" "c.7359C>T" "r.(?)" "p.(Ser2453=)" "" "" "0000283301" "00000835" "30" "7764" "0" "7764" "0" "c.7764G>A" "r.(?)" "p.(Gly2588=)" "" "" "0000283302" "00000835" "10" "792" "0" "792" "0" "c.792C>T" "r.(?)" "p.(Ile264=)" "" "" "0000283303" "00000835" "10" "927" "0" "927" "0" "c.927T>C" "r.(?)" "p.(Ser309=)" "" "" "0000283990" "00000835" "70" "502" "0" "502" "0" "c.502G>A" "r.(?)" "p.(Gly168Ser)" "" "" "0000287747" "00000835" "50" "1559" "0" "1559" "0" "c.1559C>T" "r.(?)" "p.(Pro520Leu)" "" "" "0000287748" "00000835" "30" "3078" "0" "3078" "0" "c.3078C>T" "r.(?)" "p.(Pro1026=)" "" "" "0000287750" "00000835" "10" "3264" "0" "3264" "0" "c.3264C>T" "r.(?)" "p.(Ser1088=)" "" "" "0000287751" "00000835" "30" "4872" "0" "4872" "0" "c.4872C>T" "r.(?)" "p.(Ile1624=)" "" "" "0000287752" "00000835" "50" "4979" "0" "4979" "0" "c.4979C>G" "r.(?)" "p.(Ala1660Gly)" "" "" "0000287753" "00000835" "50" "5714" "0" "5714" "0" "c.5714C>T" "r.(?)" "p.(Thr1905Ile)" "" "" "0000287754" "00000835" "30" "6231" "0" "6231" "0" "c.6231C>T" "r.(?)" "p.(Asp2077=)" "" "" "0000287755" "00000835" "50" "6490" "0" "6490" "0" "c.6490G>A" "r.(?)" "p.(Val2164Met)" "" "" "0000329467" "00000835" "30" "362" "0" "362" "0" "c.362A>T" "r.(?)" "p.(Tyr121Phe)" "" "" "0000329468" "00000835" "50" "1697" "0" "1697" "0" "c.1697G>A" "r.(?)" "p.(Arg566Gln)" "" "" "0000329470" "00000835" "50" "2698" "0" "2698" "0" "c.2698G>A" "r.(?)" "p.(Asp900Asn)" "" "" "0000329472" "00000835" "30" "3430" "0" "3430" "0" "c.3430G>C" "r.(?)" "p.(Glu1144Gln)" "" "" "0000329473" "00000835" "50" "3792" "0" "3792" "0" "c.3792C>A" "r.(?)" "p.(Asp1264Glu)" "" "" "0000329474" "00000835" "50" "3873" "0" "3873" "0" "c.3873G>C" "r.(?)" "p.(Gln1291His)" "" "" "0000329477" "00000835" "50" "4374" "0" "4374" "0" "c.4374G>T" "r.(?)" "p.(Arg1458Ser)" "" "" "0000329478" "00000835" "50" "4903" "0" "4903" "0" "c.4903G>A" "r.(?)" "p.(Gly1635Ser)" "" "" "0000329479" "00000835" "50" "5332" "0" "5332" "0" "c.5332G>A" "r.(?)" "p.(Asp1778Asn)" "" "" "0000329480" "00000835" "30" "5785" "0" "5785" "0" "c.5785G>A" "r.(?)" "p.(Asp1929Asn)" "" "" "0000329481" "00000835" "50" "5816" "0" "5816" "0" "c.5816C>T" "r.(?)" "p.(Thr1939Met)" "" "" "0000329482" "00000835" "50" "6055" "0" "6055" "0" "c.6055G>A" "r.(?)" "p.(Glu2019Lys)" "" "" "0000329483" "00000835" "50" "6238" "0" "6238" "0" "c.6238G>A" "r.(?)" "p.(Val2080Met)" "" "" "0000329484" "00000835" "50" "6577" "0" "6577" "0" "c.6577G>T" "r.(?)" "p.(Ala2193Ser)" "" "" "0000329485" "00000835" "50" "6619" "0" "6619" "0" "c.6619G>A" "r.(?)" "p.(Glu2207Lys)" "" "" "0000329486" "00000835" "50" "6656" "0" "6656" "0" "c.6656G>A" "r.(?)" "p.(Arg2219Gln)" "" "" "0000329487" "00000835" "30" "6680" "0" "6680" "0" "c.6680C>G" "r.(?)" "p.(Ser2227Cys)" "" "" "0000329488" "00000835" "50" "6893" "0" "6893" "0" "c.6893C>T" "r.(?)" "p.(Ser2298Leu)" "" "" "0000345813" "00000835" "90" "5500" "0" "5500" "0" "c.5500G>A" "r.(?)" "p.(Gly1834Arg)" "" "" "0000473817" "00000835" "70" "3769" "0" "3769" "0" "c.3769C>T" "r.(?)" "p.(Pro1257Ser)" "22" "" "0000501354" "00000835" "95" "442" "0" "442" "0" "c.442T>A" "r.(?)" "p.(Trp148Arg)" "2" "" "0000501355" "00000835" "95" "442" "0" "442" "0" "c.442T>A" "r.(?)" "p.(Trp148Arg)" "2" "Actin binding domain" "0000501356" "00000835" "95" "447" "0" "458" "0" "c.447_458del" "r.(?)" "p.(Gln150_Ile153del)" "2" "Actin binding domain" "0000501358" "00000835" "95" "482" "0" "482" "0" "c.482T>G" "r.(?)" "p.(Phe161Cys)" "2" "" "0000501359" "00000835" "95" "482" "0" "482" "0" "c.482T>G" "r.(?)" "p.(Phe161Cys)" "2" "" "0000501360" "00000835" "95" "482" "0" "482" "0" "c.482T>G" "r.(?)" "p.(Phe161Cys)" "2" "Actin binding domain" "0000501361" "00000835" "95" "482" "0" "482" "0" "c.482T>G" "r.(?)" "p.(Phe161Cys)" "2" "Actin binding domain" "0000501362" "00000835" "95" "482" "0" "482" "0" "c.482T>G" "r.(?)" "p.(Phe161Cys)" "2" "Actin binding domain" "0000501363" "00000835" "95" "488" "0" "488" "0" "c.488A>C" "r.(?)" "p.(Gln163Pro)" "2" "Actin binding domain" "0000501364" "00000835" "95" "495" "0" "495" "0" "c.495G>T" "r.(?)" "p.(Trp165Cys)" "2" "Actin binding domain" "0000501365" "00000835" "95" "500" "0" "500" "0" "c.500A>G" "r.(?)" "p.(Asp167Gly)" "2" "Actin binding domain" "0000501366" "00000835" "95" "500" "0" "500" "0" "c.500A>T" "r.(?)" "p.(Asp167Val)" "2" "Actin binding domain" "0000501367" "00000835" "95" "501" "0" "501" "0" "c.501C>A" "r.(?)" "p.(Asp167Glu)" "2" "Actin binding domain" "0000501368" "00000835" "95" "502" "0" "502" "0" "c.502G>A" "r.(?)" "p.(Gly168Ser)" "2" "" "0000501369" "00000835" "95" "502" "0" "502" "0" "c.502G>A" "r.(?)" "p.(Gly168Ser)" "2" "" "0000501370" "00000835" "95" "502" "0" "502" "0" "c.502G>A" "r.(?)" "p.(Gly168Ser)" "2" "" "0000501371" "00000835" "95" "502" "0" "502" "0" "c.502G>A" "r.(?)" "p.(Gly168Ser)" "2" "Actin binding domain" "0000501372" "00000835" "95" "502" "0" "502" "0" "c.502G>A" "r.(?)" "p.(Gly168Ser)" "2" "Actin binding domain" "0000501373" "00000835" "95" "502" "0" "502" "0" "c.502G>A" "r.(?)" "p.(Gly168Ser)" "2" "Actin binding domain" "0000501374" "00000835" "95" "502" "0" "502" "0" "c.502G>A" "r.(?)" "p.(Gly168Ser)" "2" "Actin binding domain" "0000501375" "00000835" "95" "502" "0" "502" "0" "c.502G>A" "r.(?)" "p.(Gly168Ser)" "2" "Actin binding domain" "0000501376" "00000835" "95" "502" "0" "502" "0" "c.502G>A" "r.(?)" "p.(Gly168Ser)" "2" "Actin binding domain" "0000501377" "00000835" "95" "502" "0" "502" "0" "c.502G>A" "r.(?)" "p.(Gly168Ser)" "2" "Actin binding domain" "0000501378" "00000835" "95" "502" "0" "502" "0" "c.502G>A" "r.(?)" "p.(Gly168Ser)" "2" "Actin binding domain" "0000501379" "00000835" "95" "502" "0" "502" "0" "c.502G>T" "r.(?)" "p.(Gly168Cys)" "2" "Actin binding domain" "0000501380" "00000835" "95" "503" "0" "503" "0" "c.503G>T" "r.(?)" "p.(Gly168Val)" "2" "Actin binding domain" "0000501382" "00000835" "95" "512" "0" "512" "0" "c.512T>A" "r.(?)" "p.(Leu171Gln)" "2" "" "0000501383" "00000835" "95" "512" "0" "512" "0" "c.512T>A" "r.(?)" "p.(Leu171Gln)" "2" "Actin binding domain" "0000501384" "00000835" "95" "512" "0" "512" "0" "c.512T>G" "r.(?)" "p.(Leu171Arg)" "2" "" "0000501385" "00000835" "95" "512" "0" "512" "0" "c.512T>G" "r.(?)" "p.(Leu171Arg)" "2" "Actin binding domain" "0000501386" "00000835" "95" "518" "0" "518" "0" "c.518C>T" "r.(?)" "p.(Ala173Val)" "2" "" "0000501387" "00000835" "95" "518" "0" "518" "0" "c.518C>T" "r.(?)" "p.(Ala173Val)" "2" "" "0000501388" "00000835" "95" "518" "0" "518" "0" "c.518C>T" "r.(?)" "p.(Ala173Val)" "2" "Actin binding domain" "0000501389" "00000835" "95" "542" "0" "542" "0" "c.542G>T" "r.(?)" "p.(Gly181Val)" "3" "" "0000501390" "00000835" "95" "542" "0" "542" "0" "c.542G>T" "r.(?)" "p.(Gly181Val)" "3" "Actin binding domain" "0000501391" "00000835" "95" "549" "0" "549" "0" "c.549C>G" "r.(?)" "p.(Cys183Trp)" "3" "" "0000501392" "00000835" "95" "549" "0" "549" "0" "c.549C>G" "r.(?)" "p.(Cys183Trp)" "3" "Actin binding domain" "0000501394" "00000835" "95" "562" "0" "562" "0" "c.562T>C" "r.(?)" "p.(Ser188Pro)" "3" "Actin binding domain" "0000501395" "00000835" "95" "565" "0" "565" "0" "c.565T>C" "r.(?)" "p.(Trp189Arg)" "3" "Actin binding domain" "0000501396" "00000835" "95" "565" "0" "565" "0" "c.565T>G" "r.(?)" "p.(Trp189Gly)" "3" "Actin binding domain" "0000501397" "00000835" "95" "572" "0" "572" "0" "c.572C>T" "r.(?)" "p.(Pro191Leu)" "3" "Actin binding domain" "0000501398" "00000835" "95" "590" "0" "590" "0" "c.590A>T" "r.(?)" "p.(Asn197Ile)" "3" "Actin binding domain" "0000501399" "00000835" "95" "602" "0" "602" "0" "c.602C>T" "r.(?)" "p.(Asp201Val)" "3" "" "0000501400" "00000835" "95" "602" "0" "602" "0" "c.602C>T" "r.(?)" "p.(Asp201Val)" "3" "Actin binding domain" "0000501401" "00000835" "95" "604" "0" "604" "0" "c.604A>G" "r.(?)" "p.(Met202Val)" "3" "" "0000501402" "00000835" "95" "604" "0" "604" "0" "c.604A>G" "r.(?)" "p.(Met202Val)" "3" "" "0000501403" "00000835" "55" "604" "0" "604" "0" "c.604A>G" "r.(?)" "p.(M202V)" "3" "" "0000501404" "00000835" "95" "604" "0" "604" "0" "c.604A>G" "r.(?)" "p.(Met202Val)" "3" "" "0000501405" "00000835" "95" "604" "0" "604" "0" "c.604A>G" "r.(?)" "p.(Met202Val)" "3" "Actin binding domain" "0000501406" "00000835" "95" "604" "0" "604" "0" "c.604A>G" "r.(?)" "p.(Met202Val)" "3" "Actin binding domain" "0000501407" "00000835" "95" "604" "0" "604" "0" "c.604A>G" "r.(?)" "p.(Met202Val)" "3" "Actin binding domain" "0000501408" "00000835" "95" "605" "0" "605" "0" "c.605T>C" "r.(?)" "p.(Met202Thr)" "3" "Actin binding domain" "0000501409" "00000835" "95" "608" "0" "608" "0" "c.608A>C" "r.(?)" "p.(Gln203Pro)" "3" "" "0000501410" "00000835" "95" "608" "0" "608" "0" "c.608A>C" "r.(?)" "p.(Gln203Pro)" "3" "Actin binding domain" "0000501411" "00000835" "95" "613" "0" "613" "0" "c.613G>A" "r.(?)" "p.(Ala205Thr)" "3" "Actin binding domain" "0000501412" "00000835" "95" "622" "0" "622" "0" "c.622T>C" "r.(?)" "p.(Trp208Arg)" "3" "Actin binding domain" "0000501413" "00000835" "95" "629" "0" "629" "0" "c.629G>T" "r.(?)" "p.(Gly210Val)" "3" "" "0000501414" "00000835" "95" "629" "0" "629" "0" "c.629G>T" "r.(?)" "p.(Gly210Val)" "3" "" "0000501415" "00000835" "95" "629" "0" "629" "0" "c.629G>T" "r.(?)" "p.(Gly210Val)" "3" "Actin binding domain" "0000501416" "00000835" "95" "661" "0" "661" "0" "c.661A>T" "r.(?)" "p.(Ile221Phe)" "4" "Actin binding domain" "0000501417" "00000835" "95" "679" "0" "679" "0" "c.679G>A" "r.(?)" "p.(Glu227Lys)" "4" "" "0000501418" "00000835" "95" "679" "0" "679" "0" "c.679G>A" "r.(?)" "p.(Glu227Lys)" "4" "Actin binding domain" "0000501419" "00000835" "95" "679" "0" "679" "0" "c.679G>A" "r.(?)" "p.(Glu227Lys)" "4" "Actin binding domain" "0000501420" "00000835" "95" "679" "0" "679" "0" "c.679G>A" "r.(?)" "p.(Glu227Lys)" "4" "Actin binding domain" "0000501421" "00000835" "95" "679" "0" "679" "0" "c.679G>A" "r.(?)" "p.(Glu227Lys)" "4" "Actin binding domain" "0000501422" "00000835" "95" "679" "0" "679" "0" "c.679G>A" "r.(?)" "p.(Glu227Lys)" "4" "Actin binding domain" "0000501423" "00000835" "95" "679" "0" "679" "0" "c.679G>A" "r.(?)" "p.(Glu227Lys)" "4" "Actin binding domain" "0000501424" "00000835" "95" "679" "0" "679" "0" "c.679G>A" "r.(?)" "p.(Glu227Lys)" "4" "Actin binding domain" "0000501425" "00000835" "95" "679" "0" "679" "0" "c.679G>A" "r.(?)" "p.(Glu227Lys)" "4" "Actin binding domain" "0000501426" "00000835" "95" "679" "0" "679" "0" "c.679G>A" "r.(?)" "p.(Glu227Lys)" "4" "Actin binding domain" "0000501427" "00000835" "95" "679" "0" "679" "0" "c.679G>A" "r.(?)" "p.(Glu227Lys)" "4" "Actin binding domain" "0000501428" "00000835" "95" "679" "0" "679" "0" "c.679G>A" "r.(?)" "p.(Glu227Lys)" "4" "Actin binding domain" "0000501429" "00000835" "95" "679" "0" "679" "0" "c.679G>A" "r.(?)" "p.(Glu227Lys)" "4" "Actin binding domain" "0000501430" "00000835" "95" "679" "0" "679" "0" "c.679G>A" "r.(?)" "p.(Glu227Lys)" "4" "Actin binding domain" "0000501431" "00000835" "95" "679" "0" "679" "0" "c.679G>A" "r.(?)" "p.(Glu227Lys)" "4" "Actin binding domain" "0000501432" "00000835" "95" "679" "0" "679" "0" "c.679G>A" "r.(?)" "p.(Glu227Lys)" "4" "Actin binding domain" "0000501433" "00000835" "95" "685" "0" "685" "0" "c.685T>C" "r.(?)" "p.(Ser229Pro)" "4" "Actin binding domain" "0000501434" "00000835" "55" "698" "0" "698" "0" "c.698A>G" "r.(?)" "p.(Tyr233Cys)" "4" "" "0000501435" "00000835" "95" "700" "0" "700" "0" "c.700C>G" "r.(?)" "p.(Leu234Val)" "4" "" "0000501436" "00000835" "95" "700" "0" "700" "0" "c.700C>G" "r.(?)" "p.(Leu234Val)" "4" "Actin binding domain" "0000501437" "00000835" "95" "703" "0" "703" "0" "c.703T>C" "r.(?)" "p.(Ser235Pro)" "4" "" "0000501438" "00000835" "95" "703" "0" "703" "0" "c.703T>C" "r.(?)" "p.(Ser235Pro)" "4" "Actin binding domain" "0000501439" "00000835" "95" "1081" "0" "1081" "0" "c.1081G>A" "r.(?)" "p.(Gly361Ser)" "7" "" "0000501440" "00000835" "95" "1081" "0" "1081" "0" "c.1081G>A" "r.(?)" "p.(Gly361Ser)" "7" "Repeat 2" "0000501441" "00000835" "95" "1081" "0" "1081" "0" "c.1081G>T" "r.(?)" "p.(Gly361Cys)" "7" "Repeat 2" "0000501442" "00000835" "95" "1082" "0" "1082" "0" "c.1082G>A" "r.(?)" "p.(Gly361Asp)" "7" "Repeat 2" "0000501443" "00000835" "95" "1082" "0" "1082" "0" "c.1082G>A" "r.(?)" "p.(Gly361Asp)" "7" "Repeat 2" "0000501444" "00000835" "95" "1087" "0" "1087" "0" "c.1087G>A" "r.(?)" "p.(Gly363Arg)" "7" "Repeat 2" "0000501445" "00000835" "95" "1088" "0" "1088" "0" "c.1088G>A" "r.(?)" "p.(Gly363Glu)" "7" "" "0000501446" "00000835" "95" "1088" "0" "1088" "0" "c.1088G>A" "r.(?)" "p.(Gly363Glu)" "7" "Repeat 2" "0000501447" "00000835" "95" "1945" "0" "1945" "0" "c.1945C>T" "r.(?)" "p.(Arg649*)" "13" "" "0000501448" "00000835" "95" "1945" "0" "1945" "0" "c.1945C>T" "r.(?)" "p.(Arg649*)" "13" "Repeat 5" "0000501449" "00000835" "95" "1945" "0" "1945" "0" "c.1945C>T" "r.(?)" "p.(Arg649*)" "13" "Repeat 5" "0000501450" "00000835" "95" "1945" "0" "1945" "0" "c.1945C>T" "r.(?)" "p.(Arg649*)" "13" "Repeat 5" "0000501451" "00000835" "95" "1945" "0" "1945" "0" "c.1945C>T" "r.(?)" "p.(Arg649*)" "13" "Repeat 5" "0000501452" "00000835" "95" "1945" "0" "1945" "0" "c.1945C>T" "r.(?)" "p.(Arg649*)" "13" "Repeat 5" "0000501453" "00000835" "95" "1945" "0" "1945" "0" "c.1945C>T" "r.(?)" "p.(Arg649*)" "13" "Repeat 5" "0000501454" "00000835" "95" "1945" "0" "1945" "0" "c.1945C>T" "r.(?)" "p.(Arg649*)" "13" "Repeat 5" "0000501455" "00000835" "95" "1945" "0" "1945" "0" "c.1945C>T" "r.(?)" "p.(Arg649*)" "13" "Repeat 5" "0000501456" "00000835" "95" "1945" "0" "1945" "0" "c.1945C>T" "r.(?)" "p.(Arg649*)" "13" "Repeat 5" "0000501457" "00000835" "95" "1945" "0" "1945" "0" "c.1945C>T" "r.(?)" "p.(Arg649*)" "13" "Repeat 5" "0000501458" "00000835" "95" "2055" "1" "2055" "1" "c.2055+1G>A" "r.2055_2056ins[a;2055+2_2055+27]" "p.Gln685_Asp686ins9" "13i" "Repeat 5" "0000501459" "00000835" "95" "2251" "0" "2251" "0" "c.2251G>C" "r.(?)" "p.(Gly751Arg)" "15" "" "0000501460" "00000835" "55" "2251" "0" "2251" "0" "c.2251G>C" "r.(?)" "p.(Gly751Arg)" "15" "" "0000501461" "00000835" "95" "2251" "0" "2251" "0" "c.2251G>C" "r.(?)" "p.(Gly751Arg)" "15" "" "0000501462" "00000835" "95" "2251" "0" "2251" "0" "c.2251G>C" "r.(?)" "p.(Gly751Arg)" "15" "Repeat 6" "0000501463" "00000835" "95" "2452" "0" "2452" "0" "c.2452C>T" "r.(?)" "p.(Arg818*)" "16" "" "0000501464" "00000835" "95" "2452" "0" "2452" "0" "c.2452C>T" "r.(?)" "p.(Arg818*)" "16" "" "0000501465" "00000835" "95" "2452" "0" "2452" "0" "c.2452C>T" "r.(?)" "p.(Arg818*)" "17" "Repeat 6" "0000501466" "00000835" "95" "679" "0" "679" "0" "c.679G>A" "r.(?)" "p.(Glu227Lys)" "25" "" "0000501467" "00000835" "95" "4292" "0" "4292" "0" "c.4292T>G" "r.(?)" "p.(Leu1431Arg)" "25" "" "0000501468" "00000835" "95" "4292" "0" "4292" "0" "c.4292T>G" "r.(?)" "p.(Leu1431Arg)" "25" "Repeat 13" "0000501469" "00000835" "95" "4580" "0" "4580" "0" "c.4580T>A" "r.(?)" "p.(Leu1527His)" "27" "Repeat 14" "0000501470" "00000835" "95" "4580" "0" "4580" "0" "c.4580T>C" "r.(?)" "p.(Leu1527Pro)" "27" "Repeat 14" "0000501472" "00000835" "95" "4621" "0" "4621" "0" "c.4621G>C" "r.(?)" "p.(Ala1541Pro)" "27" "Repeat 14" "0000501473" "00000835" "95" "4625" "0" "4625" "0" "c.4625T>C" "r.(?)" "p.(Ile1542Thr)" "27" "Repeat 14" "0000501474" "00000835" "95" "4625" "0" "4625" "0" "c.4625T>C" "r.(?)" "p.(Ile1542Thr)" "27" "Repeat 14" "0000501476" "00000835" "95" "4713" "0" "4715" "0" "c.4713_4715del" "r.(?)" "p.(Lys1572del)" "28" "" "0000501477" "00000835" "95" "4713" "0" "4715" "0" "c.4713_4715del" "r.(?)" "p.(Lys1572del)" "28" "Repeat 14" "0000501478" "00000835" "95" "4725" "0" "4736" "0" "c.4725_4736del" "r.(?)" "p.(Ala1577_Tyr1580del)" "28" "Repeat 14" "0000501479" "00000835" "95" "4737" "0" "4737" "0" "c.[4737dup;4748_4760del]" "r.(?)" "p.[(Tyr1580_Ile1581delinsLeuHis; Asp1583_Gly1586del)]" "28" "" "0000501480" "00000835" "95" "4737" "0" "4737" "0" "c.[4737dup;4748_4760del]" "r.(?)" "p.(Tyr1580Leu;Ile1581His; Asp1583_Gly1586del)" "28" "Repeat 14" "0000501481" "00000835" "95" "4747" "0" "4749" "0" "c.4747_4749del" "r.(?)" "p.(Asp1583del)" "28" "" "0000501482" "00000835" "95" "4747" "0" "4749" "0" "c.4747_4749del" "r.(?)" "p.(Asp1583del)" "28" "Repeat 14" "0000501483" "00000835" "95" "4756" "0" "4756" "0" "c.4756G>A" "r.(?)" "p.(Gly1586Arg)" "28" "" "0000501484" "00000835" "55" "4756" "0" "4756" "0" "c.4756G>A" "r.(?)" "p.(G1586R)" "28" "" "0000501485" "00000835" "95" "4756" "0" "4756" "0" "c.4756G>A" "r.(?)" "p.(Gly1586Arg)" "28" "" "0000501486" "00000835" "95" "4756" "0" "4756" "0" "c.4756G>A" "r.(?)" "p.(Gly1586Arg)" "28" "Repeat 14" "0000501487" "00000835" "95" "4756" "0" "4756" "0" "c.4756G>A" "r.(?)" "p.(Gly1586Arg)" "28" "Repeat 14" "0000501488" "00000835" "95" "4775" "0" "4775" "0" "c.4775T>A" "r.(?)" "p.(Val1592Asp)" "28" "" "0000501489" "00000835" "95" "4775" "0" "4775" "0" "c.4775T>A" "r.(?)" "p.(Val1592Asp)" "28" "Repeat 14" "0000501490" "00000835" "95" "4775" "0" "4775" "0" "c.4775T>A" "r.(?)" "p.(Val1592Asp)" "28" "Repeat 14" "0000501491" "00000835" "95" "4781" "0" "4781" "0" "c.4781A>C" "r.(?)" "p.(Tyr1594Ser)" "28" "Repeat 14" "0000501492" "00000835" "95" "4795" "0" "4795" "0" "c.4795A>T" "r.(?)" "p.(Ile1599Phe)" "28" "Repeat 14" "0000501493" "00000835" "95" "4804" "0" "4804" "0" "c.4804T>C" "r.(?)" "p.(Ser1602Pro)" "28" "" "0000501494" "00000835" "95" "4804" "0" "4804" "0" "c.4804T>C" "r.(?)" "p.(Ser1602Pro)" "28" "Repeat 14" "0000501495" "00000835" "95" "4805" "0" "4805" "0" "c.4805C>A" "r.(?)" "p.(Ser1602Tyr)" "28" "Repeat 14" "0000501496" "00000835" "95" "4808" "0" "4808" "0" "c.4808C>T" "r.(?)" "p.(Pro1603Leu)" "28" "" "0000501497" "00000835" "95" "4808" "0" "4808" "0" "c.4808C>T" "r.(?)" "p.(Pro1603Leu)" "28" "Repeat 14" "0000501498" "00000835" "95" "4819" "0" "4819" "0" "c.4819C>T" "r.(?)" "p.(Arg1607*)" "28" "" "0000501499" "00000835" "95" "4819" "0" "4819" "0" "c.4819C>T" "r.(?)" "p.(Arg1607*)" "28" "" "0000501500" "00000835" "95" "4819" "0" "4819" "0" "c.4819C>T" "r.(?)" "p.(Arg1607*)" "28" "Repeat 14" "0000501501" "00000835" "95" "4835" "0" "4835" "0" "c.4835G>A" "r.(?)" "p.(Gly1612Asp)" "28" "" "0000501502" "00000835" "95" "4835" "0" "4835" "0" "c.4835G>A" "r.(?)" "p.(Gly1612Asp)" "28" "Repeat 15" "0000501503" "00000835" "95" "4927" "0" "4927" "0" "c.4927G>C" "r.(?)" "p.(Ala1643Pro)" "29" "" "0000501504" "00000835" "95" "4927" "0" "4927" "0" "c.4927G>C" "r.(?)" "p.(Ala1643Pro)" "29" "Repeat 15" "0000501506" "00000835" "95" "4936" "0" "4936" "0" "c.4936G>A" "r.(?)" "p.(Gly1646Ser)" "29" "Repeat 15" "0000501507" "00000835" "95" "5024" "0" "5026" "0" "c.5024_5026del" "r.(?)" "p.(Phe1675del)" "29" "Repeat 15" "0000501508" "00000835" "95" "5071" "0" "5071" "0" "c.5071G>A" "r.(?)" "p.(Gly1691Ser)" "29" "" "0000501509" "00000835" "95" "5071" "0" "5071" "0" "c.5071G>A" "r.(?)" "p.(Gly1691Ser)" "29" "" "0000501510" "00000835" "95" "5071" "0" "5071" "0" "c.5071G>A" "r.(?)" "p.(Gly1691Ser)" "29" "" "0000501511" "00000835" "95" "5071" "0" "5071" "0" "c.5071G>A" "r.(?)" "p.(Gly1691Ser)" "29" "" "0000501512" "00000835" "95" "5071" "0" "5071" "0" "c.5071G>A" "r.(?)" "p.(Gly1691Ser)" "29" "" "0000501513" "00000835" "95" "5071" "0" "5071" "0" "c.5071G>A" "r.(?)" "p.(Gly1691Ser)" "29" "" "0000501514" "00000835" "95" "5071" "0" "5071" "0" "c.5071G>A" "r.(?)" "p.(Gly1691Ser)" "29" "" "0000501515" "00000835" "95" "5071" "0" "5071" "0" "c.5071G>A" "r.(?)" "p.(Gly1691Ser)" "29" "" "0000501516" "00000835" "95" "5071" "0" "5071" "0" "c.5071G>A" "r.(?)" "p.(Gly1691Ser)" "29" "Repeat 15" "0000501517" "00000835" "95" "5071" "0" "5071" "0" "c.5071G>A" "r.(?)" "p.(Gly1691Ser)" "29" "Repeat 15" "0000501518" "00000835" "95" "5071" "0" "5071" "0" "c.5071G>A" "r.(?)" "p.(Gly1691Ser)" "29" "Repeat 15" "0000501519" "00000835" "95" "5071" "0" "5071" "0" "c.5071G>A" "r.(?)" "p.(Gly1691Ser)" "29" "Repeat 15" "0000501520" "00000835" "95" "5071" "0" "5071" "0" "c.5071G>A" "r.(?)" "p.(Gly1691Ser)" "29" "Repeat 15" "0000501521" "00000835" "95" "5071" "0" "5071" "0" "c.5071G>A" "r.(?)" "p.(Gly1691Ser)" "29" "Repeat 15" "0000501522" "00000835" "95" "5071" "0" "5071" "0" "c.5071G>A" "r.(?)" "p.(Gly1691Ser)" "29" "Repeat 15" "0000501523" "00000835" "95" "5071" "0" "5071" "0" "c.5071G>A" "r.(?)" "p.(Gly1691Ser)" "29" "Repeat 15" "0000501524" "00000835" "95" "5071" "0" "5071" "0" "c.5071G>A" "r.(?)" "p.(Gly1691Ser)" "29" "Repeat 15" "0000501525" "00000835" "95" "5071" "0" "5071" "0" "c.5071G>A" "r.(?)" "p.(Gly1691Ser)" "29" "Repeat 15" "0000501526" "00000835" "95" "5071" "0" "5071" "0" "c.5071G>A" "r.(?)" "p.(Gly1691Ser)" "29" "Repeat 15" "0000501527" "00000835" "95" "5071" "0" "5071" "0" "c.5071G>A" "r.(?)" "p.(Gly1691Ser)" "29" "Repeat 15" "0000501528" "00000835" "95" "5071" "0" "5071" "0" "c.5071G>T" "r.(?)" "p.(Gly1691Cys)" "29" "Repeat 15" "0000501529" "00000835" "95" "5072" "0" "5072" "0" "c.5072G>A" "r.(?)" "p.(Gly1691Asp)" "29" "Repeat 15" "0000501530" "00000835" "95" "5074" "0" "5074" "0" "c.5074G>A" "r.(?)" "p.(Gly1692Ser)" "29" "Repeat 15" "0000501531" "00000835" "95" "5095" "0" "5095" "0" "c.5095C>T" "r.(?)" "p.(Pro1699Ser)" "29" "Repeat 15" "0000501532" "00000835" "95" "5500" "0" "5500" "0" "c.5500G>A" "r.(?)" "p.(Gly1834Arg)" "33" "" "0000501533" "00000835" "95" "5500" "0" "5500" "0" "c.5500G>A" "r.(?)" "p.(Gly1834Arg)" "33" "Repeat 17" "0000501534" "00000835" "95" "5500" "0" "5500" "0" "c.5500G>A" "r.(?)" "p.(Gly1834Arg)" "33" "Repeat 17" "0000501535" "00000835" "95" "5548" "0" "5548" "0" "c.5548G>T" "r.(?)" "p.(Gly1850*)" "33" "" "0000501536" "00000835" "95" "5548" "0" "5548" "0" "c.5548G>T" "r.(?)" "p.(Gly1850*)" "33" "" "0000501537" "00000835" "95" "5706" "0" "5706" "0" "c.5706C>A" "r.(?)" "p.(Ser1902Arg)" "34" "Repeat 17" "0000501539" "00000835" "95" "6010" "0" "6010" "0" "c.6010C>T" "r.(?)" "p.(Arg2004*)" "36" "" "0000501540" "00000835" "95" "6010" "0" "6010" "0" "c.6010C>T" "r.(?)" "p.(Arg2004*)" "36" "" "0000501541" "00000835" "95" "6408" "0" "6408" "0" "c.6408del" "r.(?)" "p.(Ser2137Leufs*4)" "39" "" "0000501542" "00000835" "95" "6408" "0" "6408" "0" "c.6408del" "r.(?)" "p.(Ser2137Leufs*4)" "39" "" "0000501543" "00000835" "95" "6408" "0" "6408" "0" "c.6408del" "r.(?)" "p.(Ser2137Leufs*4)" "39" "" "0000501544" "00000835" "95" "6408" "0" "6408" "0" "c.6408del" "r.(?)" "p.(Ser2137LeufsTer4)" "39" "Repeat 20" "0000501545" "00000835" "95" "6408" "0" "6408" "0" "c.6408del" "r.(?)" "p.(Ser2137LeufsTer4)" "39" "Repeat 20" "0000501546" "00000835" "95" "7029" "0" "7029" "0" "c.7029T>G" "r.(?)" "p.(Tyr2343*)" "43" "" "0000501547" "00000835" "95" "7029" "0" "7029" "0" "c.7029T>G" "r.(?)" "p.(Tyr2343*)" "43" "Repeat 22" "0000501548" "00000835" "95" "7029" "0" "7029" "0" "c.7029T>G" "r.(?)" "p.(Tyr2343*)" "43" "Repeat 22" "0000501549" "00000835" "95" "7290" "0" "7313" "0" "c.7290_7313del" "r.(?)" "p.(Cys2431_Tyr2438del)" "44" "Repeat 23" "0000501550" "00000835" "95" "7621" "1" "7621" "1" "c.7621+1dup" "r.spl?" "p.(Ser2542Leufs*82)" "45" "dimerization domain" "0000520491" "00000835" "10" "249" "0" "249" "0" "c.249G>A" "r.(?)" "p.(Ala83=)" "" "" "0000520492" "00000835" "30" "274" "0" "274" "0" "c.274A>G" "r.(?)" "p.(Ile92Val)" "" "" "0000520493" "00000835" "10" "292" "8" "292" "8" "c.292+8C>A" "r.(=)" "p.(=)" "" "" "0000520495" "00000835" "50" "827" "0" "827" "0" "c.827A>G" "r.(?)" "p.(Lys276Arg)" "" "" "0000520497" "00000835" "50" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468His)" "" "" "0000520498" "00000835" "50" "1486" "0" "1486" "0" "c.1486G>T" "r.(?)" "p.(Gly496Cys)" "" "" "0000520499" "00000835" "30" "1559" "0" "1559" "0" "c.1559C>T" "r.(?)" "p.(Pro520Leu)" "" "" "0000520500" "00000835" "50" "1588" "0" "1588" "0" "c.1588G>T" "r.(?)" "p.(Gly530Trp)" "" "" "0000520501" "00000835" "30" "1697" "0" "1697" "0" "c.1697G>A" "r.(?)" "p.(Arg566Gln)" "" "" "0000520502" "00000835" "50" "2059" "0" "2059" "0" "c.2059G>A" "r.(?)" "p.(Gly687Arg)" "" "" "0000520505" "00000835" "30" "2493" "0" "2493" "0" "c.2493C>T" "r.(?)" "p.(Pro831=)" "" "" "0000520508" "00000835" "30" "2931" "0" "2931" "0" "c.2931G>A" "r.(?)" "p.(Leu977=)" "" "" "0000520511" "00000835" "50" "3230" "0" "3230" "0" "c.3230dup" "r.(?)" "p.(Glu1078GlyfsTer15)" "" "" "0000520512" "00000835" "30" "3430" "0" "3430" "0" "c.3430G>C" "r.(?)" "p.(Glu1144Gln)" "" "" "0000520513" "00000835" "30" "3535" "0" "3535" "0" "c.3535G>A" "r.(?)" "p.(Glu1179Lys)" "" "" "0000520514" "00000835" "30" "3651" "0" "3651" "0" "c.3651C>T" "r.(?)" "p.(Pro1217=)" "" "" "0000520515" "00000835" "30" "3724" "9" "3724" "9" "c.3724+9C>A" "r.(=)" "p.(=)" "" "" "0000520516" "00000835" "10" "3724" "14" "3724" "43" "c.3724+14_3724+43del" "r.(=)" "p.(=)" "" "" "0000520517" "00000835" "50" "3766" "0" "3766" "0" "c.3766C>T" "r.(?)" "p.(Arg1256Trp)" "" "" "0000520518" "00000835" "30" "3785" "0" "3785" "0" "c.3785G>C" "r.(?)" "p.(Gly1262Ala)" "" "" "0000520519" "00000835" "50" "4022" "0" "4022" "0" "c.4022C>G" "r.(?)" "p.(Ala1341Gly)" "" "" "0000520520" "00000835" "50" "4040" "0" "4040" "0" "c.4040A>G" "r.(?)" "p.(Asn1347Ser)" "" "" "0000520521" "00000835" "50" "4051" "0" "4051" "0" "c.4051G>A" "r.(?)" "p.(Val1351Met)" "" "" "0000520522" "00000835" "30" "4058" "0" "4058" "0" "c.4058C>G" "r.(?)" "p.(Thr1353Ser)" "" "" "0000520523" "00000835" "30" "4062" "-5" "4062" "-5" "c.4062-5T>G" "r.spl?" "p.?" "" "" "0000520525" "00000835" "50" "4133" "0" "4133" "0" "c.4133A>G" "r.(?)" "p.(Asn1378Ser)" "" "" "0000520526" "00000835" "30" "4222" "8" "4222" "8" "c.4222+8A>G" "r.(=)" "p.(=)" "" "" "0000520527" "00000835" "30" "4233" "0" "4233" "0" "c.4233C>G" "r.(?)" "p.(Phe1411Leu)" "" "" "0000520528" "00000835" "30" "4391" "-825" "4391" "-825" "c.4391-825T>C" "r.(=)" "p.(=)" "" "" "0000520529" "00000835" "70" "4561" "0" "4561" "0" "c.4561A>C" "r.(?)" "p.(Thr1521Pro)" "" "" "0000520530" "00000835" "70" "4625" "0" "4625" "0" "c.4625T>C" "r.(?)" "p.(Ile1542Thr)" "" "" "0000520534" "00000835" "30" "5769" "0" "5769" "0" "c.5769C>T" "r.(?)" "p.(Ala1923=)" "" "" "0000520536" "00000835" "30" "6017" "0" "6017" "0" "c.6017A>G" "r.(?)" "p.(Lys2006Arg)" "" "" "0000520538" "00000835" "30" "6231" "0" "6231" "0" "c.6231C>T" "r.(?)" "p.(Asp2077=)" "" "" "0000520540" "00000835" "30" "6956" "0" "6956" "0" "c.6956T>C" "r.(?)" "p.(Ile2319Thr)" "" "" "0000520542" "00000835" "50" "7108" "0" "7108" "0" "c.7108C>T" "r.(?)" "p.(Pro2370Ser)" "" "" "0000520543" "00000835" "30" "7183" "0" "7183" "0" "c.7183G>A" "r.(?)" "p.(Glu2395Lys)" "" "" "0000600855" "00000835" "90" "2911" "0" "2911" "0" "c.2911dup" "r.(?)" "p.(Ala971Glyfs*122)" "20" "8" "0000608848" "00000835" "70" "458" "0" "458" "0" "c.458T>A" "r.(?)" "p.(Ile153Asn)" "" "" "0000608849" "00000835" "30" "1110" "0" "1110" "0" "c.1110C>T" "r.(?)" "p.(Ile370=)" "" "" "0000608850" "00000835" "10" "1748" "-304" "1748" "-303" "c.1748-304_1748-303del" "r.(=)" "p.(=)" "" "" "0000608851" "00000835" "30" "2059" "0" "2059" "0" "c.2059G>A" "r.(?)" "p.(Gly687Arg)" "" "" "0000608852" "00000835" "30" "3219" "0" "3219" "0" "c.3219G>A" "r.(?)" "p.(Leu1073=)" "" "" "0000608853" "00000835" "50" "3676" "0" "3676" "0" "c.3676G>A" "r.(?)" "p.(Val1226Met)" "" "" "0000608854" "00000835" "30" "4061" "4" "4061" "4" "c.4061+4G>A" "r.spl?" "p.?" "" "" "0000608855" "00000835" "50" "4233" "0" "4233" "0" "c.4233C>G" "r.(?)" "p.(Phe1411Leu)" "" "" "0000608856" "00000835" "30" "4862" "-6" "4862" "-5" "c.4862-6_4862-5insCCCTGAACTTCT" "r.spl?" "p.?" "" "" "0000608857" "00000835" "30" "4903" "0" "4903" "0" "c.4903G>A" "r.(?)" "p.(Gly1635Ser)" "" "" "0000608858" "00000835" "50" "5053" "0" "5053" "0" "c.5053G>A" "r.(?)" "p.(Val1685Met)" "" "" "0000608859" "00000835" "30" "5160" "0" "5160" "0" "c.5160T>C" "r.(?)" "p.(Cys1720=)" "" "" "0000608860" "00000835" "70" "5411" "0" "5411" "0" "c.5411G>T" "r.(?)" "p.(Gly1804Val)" "" "" "0000608861" "00000835" "70" "6068" "0" "6068" "0" "c.6068T>C" "r.(?)" "p.(Phe2023Ser)" "" "" "0000608862" "00000835" "30" "6741" "0" "6741" "0" "c.6741G>A" "r.(?)" "p.(Ser2247=)" "" "" "0000608863" "00000835" "30" "7254" "0" "7254" "0" "c.7254C>T" "r.(?)" "p.(Ser2418=)" "" "" "0000621309" "00000835" "50" "2059" "0" "2059" "0" "c.2059G>A" "r.(?)" "p.(Gly687Arg)" "" "" "0000621310" "00000835" "30" "2226" "0" "2226" "0" "c.2226T>C" "r.(?)" "p.(Pro742=)" "" "" "0000621311" "00000835" "30" "4295" "0" "4295" "0" "c.4295G>C" "r.(?)" "p.(Gly1432Ala)" "" "" "0000621312" "00000835" "90" "5071" "0" "5071" "0" "c.5071G>A" "r.(?)" "p.(Gly1691Ser)" "" "" "0000621313" "00000835" "30" "7255" "0" "7255" "0" "c.7255G>A" "r.(?)" "p.(Val2419Ile)" "" "" "0000651313" "00000835" "50" "107" "0" "107" "0" "c.107G>A" "r.(?)" "p.(Arg36His)" "" "" "0000651314" "00000835" "50" "4307" "0" "4307" "0" "c.4307G>A" "r.(?)" "p.(Arg1436Gln)" "" "" "0000651315" "00000835" "30" "6017" "0" "6017" "0" "c.6017A>G" "r.(?)" "p.(Lys2006Arg)" "" "" "0000651316" "00000835" "50" "6047" "0" "6047" "0" "c.6047G>A" "r.(?)" "p.(Arg2016Gln)" "" "" "0000651318" "00000835" "30" "6680" "0" "6680" "0" "c.6680C>G" "r.(?)" "p.(Ser2227Cys)" "" "" "0000655008" "00000835" "30" "1747" "115" "1747" "115" "c.1747+115G>C" "r.(=)" "p.(=)" "" "" "0000655009" "00000835" "50" "2961" "0" "2961" "0" "c.2961G>T" "r.(?)" "p.(Lys987Asn)" "" "" "0000655010" "00000835" "30" "7041" "0" "7041" "0" "c.7041C>A" "r.(?)" "p.(Phe2347Leu)" "" "" "0000677073" "00000835" "30" "4590" "0" "4590" "0" "c.4590T>C" "r.(?)" "p.(Tyr1530=)" "" "" "0000677074" "00000835" "50" "4730" "0" "4730" "0" "c.4730C>T" "r.(?)" "p.(Ala1577Val)" "" "" "0000677075" "00000835" "50" "5415" "0" "5415" "0" "c.5415C>A" "r.(?)" "p.(Ser1805Arg)" "" "" "0000677076" "00000835" "50" "6310" "0" "6310" "0" "c.6310C>T" "r.(?)" "p.(Arg2104Trp)" "" "" "0000689132" "00000835" "30" "1697" "0" "1697" "0" "c.1697G>A" "r.(?)" "p.(Arg566Gln)" "" "" "0000689133" "00000835" "50" "2501" "0" "2501" "0" "c.2501C>T" "r.(?)" "p.(Pro834Leu)" "" "" "0000689134" "00000835" "50" "2744" "0" "2744" "0" "c.2744A>G" "r.(?)" "p.(Gln915Arg)" "" "" "0000689135" "00000835" "30" "5134" "0" "5134" "0" "c.5134G>A" "r.(?)" "p.(Val1712Met)" "" "" "0000689136" "00000835" "30" "5220" "0" "5220" "0" "c.5220C>T" "r.(?)" "p.(Asn1740=)" "" "" "0000689137" "00000835" "10" "6642" "0" "6642" "0" "c.6642C>T" "r.(?)" "p.(Phe2214=)" "" "" "0000689138" "00000835" "10" "6684" "0" "6684" "0" "c.6684C>T" "r.(?)" "p.(Ile2228=)" "" "" "0000719567" "00000835" "30" "107" "0" "107" "0" "c.107G>A" "r.(?)" "p.(Arg36His)" "" "" "0000719568" "00000835" "90" "517" "0" "517" "0" "c.517G>A" "r.(?)" "p.(Ala173Thr)" "" "" "0000719569" "00000835" "50" "572" "0" "572" "0" "c.572C>T" "r.(?)" "p.(Pro191Leu)" "" "" "0000719570" "00000835" "30" "1559" "0" "1559" "0" "c.1559C>T" "r.(?)" "p.(Pro520Leu)" "" "" "0000719571" "00000835" "50" "1640" "0" "1640" "0" "c.1640C>T" "r.(?)" "p.(Ala547Val)" "" "" "0000719572" "00000835" "30" "2037" "0" "2037" "0" "c.2037C>T" "r.(?)" "p.(Pro679=)" "" "" "0000719573" "00000835" "50" "2095" "0" "2095" "0" "c.2095C>T" "r.(?)" "p.(Arg699Trp)" "" "" "0000719574" "00000835" "50" "2453" "0" "2453" "0" "c.2453G>A" "r.(?)" "p.(Arg818Gln)" "" "" "0000719575" "00000835" "50" "2996" "0" "2996" "0" "c.2996G>C" "r.(?)" "p.(Arg999Pro)" "" "" "0000719576" "00000835" "30" "3138" "0" "3138" "0" "c.3138C>T" "r.(?)" "p.(His1046=)" "" "" "0000719577" "00000835" "50" "3770" "0" "3770" "0" "c.3770C>T" "r.(?)" "p.(Pro1257Leu)" "" "" "0000719578" "00000835" "30" "3898" "20" "3898" "20" "c.3898+20G>A" "r.(=)" "p.(=)" "" "" "0000719579" "00000835" "50" "4058" "0" "4058" "0" "c.4058C>G" "r.(?)" "p.(Thr1353Ser)" "" "" "0000719580" "00000835" "30" "4222" "8" "4222" "8" "c.4222+8A>G" "r.(=)" "p.(=)" "" "" "0000719581" "00000835" "30" "4233" "0" "4233" "0" "c.4233C>G" "r.(?)" "p.(Phe1411Leu)" "" "" "0000719582" "00000835" "30" "5285" "-217" "5285" "-217" "c.5285-217G>A" "r.(=)" "p.(=)" "" "" "0000719583" "00000835" "50" "5848" "0" "5848" "0" "c.5848G>A" "r.(?)" "p.(Glu1950Lys)" "" "" "0000719584" "00000835" "30" "5964" "0" "5964" "0" "c.5964C>T" "r.(?)" "p.(Ser1988=)" "" "" "0000719585" "00000835" "50" "5990" "0" "5990" "0" "c.5990C>T" "r.(?)" "p.(Ser1997Leu)" "" "" "0000719586" "00000835" "10" "6438" "0" "6438" "0" "c.6438G>A" "r.(?)" "p.(Val2146=)" "" "" "0000719587" "00000835" "50" "6778" "0" "6778" "0" "c.6778T>G" "r.(?)" "p.(Tyr2260Asp)" "" "" "0000719588" "00000835" "90" "7029" "0" "7029" "0" "c.7029T>G" "r.(?)" "p.(Tyr2343Ter)" "" "" "0000719589" "00000835" "30" "7246" "0" "7246" "0" "c.7246A>C" "r.(?)" "p.(Thr2416Pro)" "" "" "0000719590" "00000835" "50" "7369" "0" "7369" "0" "c.7369G>A" "r.(?)" "p.(Gly2457Ser)" "" "" "0000729957" "00000835" "90" "488" "0" "488" "0" "c.488A>C" "r.(?)" "p.(Gln163Pro)" "" "" "0000801346" "00000835" "50" "205" "0" "205" "0" "c.205C>T" "r.(?)" "p.(Arg69Trp)" "" "" "0000801347" "00000835" "30" "274" "0" "274" "0" "c.274A>G" "r.(?)" "p.(Ile92Val)" "" "" "0000801348" "00000835" "50" "1417" "0" "1417" "0" "c.1417A>C" "r.(?)" "p.(Thr473Pro)" "" "" "0000801349" "00000835" "50" "2744" "0" "2744" "0" "c.2744A>G" "r.(?)" "p.(Gln915Arg)" "" "" "0000801350" "00000835" "50" "3079" "0" "3079" "0" "c.3079G>A" "r.(?)" "p.(Gly1027Arg)" "" "" "0000801351" "00000835" "50" "3886" "0" "3886" "0" "c.3886C>T" "r.(?)" "p.(Pro1296Ser)" "" "" "0000801352" "00000835" "50" "4175" "0" "4175" "0" "c.4175C>T" "r.(?)" "p.(Pro1392Leu)" "" "" "0000801353" "00000835" "50" "4184" "0" "4184" "0" "c.4184A>G" "r.(?)" "p.(Tyr1395Cys)" "" "" "0000801354" "00000835" "50" "4391" "-787" "4391" "-787" "c.4391-787T>C" "r.(=)" "p.(=)" "" "" "0000801355" "00000835" "50" "4495" "0" "4495" "0" "c.4495G>A" "r.(?)" "p.(Asp1499Asn)" "" "" "0000801356" "00000835" "30" "4929" "0" "4929" "0" "c.4929C>T" "r.(?)" "p.(Ala1643=)" "" "" "0000801357" "00000835" "90" "5071" "0" "5071" "0" "c.5071G>A" "r.(?)" "p.(Gly1691Ser)" "" "" "0000801358" "00000835" "30" "6833" "0" "6833" "0" "c.6833T>C" "r.(?)" "p.(Val2278Ala)" "" "" "0000846508" "00000835" "70" "4545" "0" "4545" "0" "c.4545T>A" "r.(?)" "p.(Tyr1515*)" "" "" "0000850393" "00000835" "50" "2144" "0" "2144" "0" "c.2144A>G" "r.(?)" "p.(Lys715Arg)" "" "" "0000850394" "00000835" "30" "2745" "4" "2745" "4" "c.2745+4G>A" "r.spl?" "p.?" "" "" "0000850395" "00000835" "50" "2996" "0" "2996" "0" "c.2996G>A" "r.(?)" "p.(Arg999Gln)" "" "" "0000850396" "00000835" "50" "3518" "0" "3518" "0" "c.3518A>C" "r.(?)" "p.(Asp1173Ala)" "" "" "0000850397" "00000835" "30" "3594" "0" "3594" "0" "c.3594G>A" "r.(?)" "p.(Thr1198=)" "" "" "0000850398" "00000835" "30" "4391" "-877" "4391" "-877" "c.4391-877C>T" "r.(=)" "p.(=)" "" "" "0000850399" "00000835" "50" "5816" "0" "5816" "0" "c.5816C>T" "r.(?)" "p.(Thr1939Met)" "" "" "0000850400" "00000835" "90" "5842" "0" "5842" "0" "c.5842C>T" "r.(?)" "p.(Arg1948*)" "" "" "0000850401" "00000835" "50" "6164" "0" "6164" "0" "c.6164G>A" "r.(?)" "p.(Gly2055Asp)" "" "" "0000850402" "00000835" "30" "6315" "0" "6315" "0" "c.6315C>T" "r.(?)" "p.(Ala2105=)" "" "" "0000859114" "00000835" "30" "1203" "0" "1203" "0" "c.1203C>T" "r.(?)" "p.(Thr401=)" "" "" "0000859115" "00000835" "50" "1249" "0" "1249" "0" "c.1249G>A" "r.(?)" "p.(Val417Met)" "" "" "0000859116" "00000835" "50" "2506" "0" "2506" "0" "c.2506A>G" "r.(?)" "p.(Arg836Gly)" "" "" "0000859117" "00000835" "50" "2996" "0" "2996" "0" "c.2996G>A" "r.(?)" "p.(Arg999Gln)" "" "" "0000859118" "00000835" "30" "4022" "0" "4022" "0" "c.4022C>G" "r.(?)" "p.(Ala1341Gly)" "" "" "0000859119" "00000835" "50" "4832" "0" "4832" "0" "c.4832C>T" "r.(?)" "p.(Thr1611Met)" "" "" "0000859120" "00000835" "30" "7187" "0" "7187" "0" "c.7187G>A" "r.(?)" "p.(Gly2396Glu)" "" "" "0000885953" "00000835" "50" "2964" "0" "2964" "0" "c.2964C>A" "r.(?)" "p.(Val988=)" "" "" "0000885954" "00000835" "90" "3481" "0" "3481" "0" "c.3481del" "r.(?)" "p.(Ala1161Argfs*32)" "" "" "0000885955" "00000835" "50" "3784" "0" "3784" "0" "c.3784G>A" "r.(?)" "p.(Gly1262Arg)" "" "" "0000885956" "00000835" "50" "4040" "0" "4040" "0" "c.4040A>G" "r.(?)" "p.(Asn1347Ser)" "" "" "0000885957" "00000835" "50" "4058" "0" "4058" "0" "c.4058C>G" "r.(?)" "p.(Thr1353Ser)" "" "" "0000885958" "00000835" "30" "4391" "-813" "4391" "-813" "c.4391-813C>T" "r.(=)" "p.(=)" "" "" "0000885959" "00000835" "50" "6497" "0" "6497" "0" "c.6497C>T" "r.(?)" "p.(Thr2166Met)" "" "" "0000885960" "00000835" "50" "6980" "0" "6980" "0" "c.6980C>T" "r.(?)" "p.(Ser2327Phe)" "" "" "0000885961" "00000835" "50" "6983" "0" "6985" "0" "c.6983_6985del" "r.(?)" "p.(Gly2328del)" "" "" "0000885962" "00000835" "50" "7121" "0" "7121" "0" "c.7121G>A" "r.(?)" "p.(Arg2374His)" "" "" "0000885963" "00000835" "50" "7183" "0" "7183" "0" "c.7183G>A" "r.(?)" "p.(Glu2395Lys)" "" "" "0000885964" "00000835" "50" "7255" "0" "7255" "0" "c.7255G>A" "r.(?)" "p.(Val2419Ile)" "" "" "0000885965" "00000835" "50" "7510" "0" "7510" "0" "c.7510G>A" "r.(?)" "p.(Ala2504Thr)" "" "" "0000885966" "00000835" "50" "7550" "0" "7550" "0" "c.7550C>T" "r.(?)" "p.(Ser2517Phe)" "" "" "0000885967" "00000835" "30" "7738" "0" "7738" "0" "c.7738G>A" "r.(?)" "p.(Asp2580Asn)" "" "" "0000911984" "00000835" "30" "808" "0" "808" "0" "c.808A>G" "r.(?)" "p.(Met270Val)" "" "" "0000911985" "00000835" "30" "1399" "0" "1399" "0" "c.1399G>A" "r.(?)" "p.(Val467Ile)" "" "" "0000911986" "00000835" "50" "1408" "0" "1408" "0" "c.1408C>T" "r.(?)" "p.(Arg470Trp)" "" "" "0000911987" "00000835" "30" "1873" "0" "1873" "0" "c.1873G>A" "r.(?)" "p.(Glu625Lys)" "" "" "0000911988" "00000835" "50" "2318" "0" "2318" "0" "c.2318G>C" "r.(?)" "p.(Gly773Ala)" "" "" "0000911989" "00000835" "50" "2618" "0" "2618" "0" "c.2618A>G" "r.(?)" "p.(Lys873Arg)" "" "" "0000911990" "00000835" "50" "4495" "0" "4495" "0" "c.4495G>A" "r.(?)" "p.(Asp1499Asn)" "" "" "0000911991" "00000835" "30" "6443" "0" "6443" "0" "c.6443T>C" "r.(?)" "p.(Met2148Thr)" "" "" "0000923982" "00000835" "50" "2198" "0" "2198" "0" "c.2198G>C" "r.(?)" "p.(Arg733Thr)" "" "" "0000923983" "00000835" "50" "3220" "0" "3220" "0" "c.3220G>A" "r.(?)" "p.(Gly1074Ser)" "" "" "0000923984" "00000835" "50" "7003" "0" "7003" "0" "c.7003G>C" "r.(?)" "p.(Val2335Leu)" "" "" "0000923985" "00000835" "50" "7336" "0" "7336" "0" "c.7336G>A" "r.(?)" "p.(Ala2446Thr)" "" "" "0000928816" "00000835" "50" "1697" "0" "1697" "0" "c.1697G>A" "r.(?)" "p.(Arg566Gln)" "" "" "0000928817" "00000835" "90" "1740" "0" "1740" "0" "c.1740dup" "r.(?)" "p.(Ser581Valfs*7)" "" "" "0000928818" "00000835" "30" "2484" "4" "2484" "4" "c.2484+4C>T" "r.spl?" "p.?" "" "" "0000928819" "00000835" "50" "2636" "0" "2636" "0" "c.2636C>T" "r.(?)" "p.(Pro879Leu)" "" "" "0000928820" "00000835" "90" "4769" "0" "4769" "0" "c.4769T>C" "r.(?)" "p.(Ile1590Thr)" "" "" "0000948198" "00000835" "50" "610" "0" "610" "0" "c.610del" "r.(?)" "p.(Gln204Argfs*28)" "" "" "0000948199" "00000835" "50" "761" "0" "761" "0" "c.761C>T" "r.(?)" "p.(Pro254Leu)" "" "" "0000948200" "00000835" "50" "2779" "0" "2779" "0" "c.2779G>A" "r.(?)" "p.(Asp927Asn)" "" "" "0000948201" "00000835" "30" "4022" "0" "4022" "0" "c.4022C>G" "r.(?)" "p.(Ala1341Gly)" "" "" "0000948202" "00000835" "30" "5148" "0" "5148" "0" "c.5148G>A" "r.(?)" "p.(=)" "" "" "0000948203" "00000835" "50" "7121" "0" "7121" "0" "c.7121G>A" "r.(?)" "p.(Arg2374His)" "" "" "0000962861" "00000835" "30" "2461" "0" "2461" "0" "c.2461A>G" "r.(?)" "p.(Ile821Val)" "" "" "0000962863" "00000835" "30" "3785" "0" "3785" "0" "c.3785G>C" "r.(?)" "p.(Gly1262Ala)" "" "" "0000962864" "00000835" "30" "4391" "-824" "4391" "-824" "c.4391-824T>C" "r.(=)" "p.(=)" "" "" "0000962865" "00000835" "30" "4862" "-272" "4862" "-272" "c.4862-272A>G" "r.(=)" "p.(=)" "" "" "0000962866" "00000835" "50" "6028" "0" "6028" "0" "c.6028C>T" "r.(?)" "p.(Arg2010Cys)" "" "" "0000975947" "00000835" "50" "205" "0" "205" "0" "c.205C>T" "r.(?)" "p.(Arg69Trp)" "" "" "0000975948" "00000835" "50" "528" "0" "528" "0" "c.528C>G" "r.(?)" "p.(Asp176Glu)" "" "" "0000975949" "00000835" "10" "1611" "-4" "1611" "-4" "c.1611-4G>A" "r.spl?" "p.?" "" "" "0000975950" "00000835" "50" "2104" "0" "2104" "0" "c.2104G>A" "r.(?)" "p.(Gly702Ser)" "" "" "0000975951" "00000835" "50" "2297" "0" "2297" "0" "c.2297C>T" "r.(?)" "p.(Thr766Met)" "" "" "0000975952" "00000835" "30" "2745" "4" "2745" "4" "c.2745+4G>A" "r.spl?" "p.?" "" "" "0000975953" "00000835" "50" "2892" "0" "2892" "0" "c.2892C>G" "r.(?)" "p.(Phe964Leu)" "" "" "0000975954" "00000835" "50" "3670" "0" "3670" "0" "c.3670C>T" "r.(?)" "p.(Pro1224Ser)" "" "" "0000975955" "00000835" "30" "3771" "0" "3771" "0" "c.3771G>A" "r.(?)" "p.(Pro1257=)" "" "" "0000975956" "00000835" "50" "4112" "0" "4112" "0" "c.4112C>T" "r.(?)" "p.(Ser1371Leu)" "" "" "0000975957" "00000835" "30" "4390" "204" "4390" "204" "c.4390+204C>T" "r.(=)" "p.(=)" "" "" "0000975958" "00000835" "30" "5042" "0" "5042" "0" "c.5042C>T" "r.(?)" "p.(Pro1681Leu)" "" "" "0000975959" "00000835" "50" "5188" "0" "5188" "0" "c.5188G>A" "r.(?)" "p.(Glu1730Lys)" "" "" "0000975960" "00000835" "50" "5327" "0" "5327" "0" "c.5327T>C" "r.(?)" "p.(Ile1776Thr)" "" "" "0000975961" "00000835" "50" "5848" "0" "5848" "0" "c.5848G>A" "r.(?)" "p.(Glu1950Lys)" "" "" "0000975962" "00000835" "30" "6755" "0" "6755" "0" "c.6755A>T" "r.(?)" "p.(Tyr2252Phe)" "" "" "0000975963" "00000835" "50" "7036" "0" "7036" "0" "c.7036C>T" "r.(?)" "p.(Arg2346Cys)" "" "" "0000975964" "00000835" "30" "7041" "0" "7041" "0" "c.7041C>A" "r.(?)" "p.(Phe2347Leu)" "" "" "0000975965" "00000835" "50" "7175" "0" "7175" "0" "c.7175C>T" "r.(?)" "p.(Thr2392Met)" "" "" "0000975966" "00000835" "50" "7760" "0" "7760" "0" "c.7760G>T" "r.(?)" "p.(Trp2587Leu)" "" "" "0000985249" "00000835" "90" "1945" "0" "1945" "0" "c.1945C>T" "r.(?)" "p.(Arg649*)" "" "" "0000985250" "00000835" "70" "2774" "0" "2774" "0" "c.2774G>A" "r.(?)" "p.(Gly925Asp)" "" "" "0000985251" "00000835" "90" "2452" "0" "2452" "0" "c.2452C>T" "r.(?)" "p.(Arg818*)" "" "" "0000985252" "00000835" "90" "4819" "0" "4819" "0" "c.4819C>T" "r.(?)" "p.(Arg1607*)" "" "" "0000993843" "00000835" "30" "174" "0" "174" "0" "c.174C>G" "r.(?)" "p.(Ser58Arg)" "" "" "0000993844" "00000835" "30" "182" "0" "182" "0" "c.182G>T" "r.(?)" "p.(Arg61Leu)" "" "" "0000993845" "00000835" "30" "865" "0" "865" "0" "c.865G>A" "r.(?)" "p.(Val289Met)" "" "" "0000993846" "00000835" "50" "1592" "0" "1592" "0" "c.1592G>A" "r.(?)" "p.(Gly531Glu)" "" "" "0000993847" "00000835" "50" "1696" "0" "1696" "0" "c.1696C>T" "r.(?)" "p.(Arg566Trp)" "" "" "0000993848" "00000835" "30" "1919" "0" "1919" "0" "c.1919C>T" "r.(?)" "p.(Thr640Met)" "" "" "0000993849" "00000835" "30" "2750" "0" "2750" "0" "c.2750A>G" "r.(?)" "p.(Asn917Ser)" "" "" "0000993850" "00000835" "30" "2773" "0" "2773" "0" "c.2773G>T" "r.(?)" "p.(Gly925Cys)" "" "" "0000993851" "00000835" "50" "3037" "0" "3037" "0" "c.3037C>A" "r.(?)" "p.(Leu1013Met)" "" "" "0000993852" "00000835" "50" "3518" "0" "3518" "0" "c.3518A>C" "r.(?)" "p.(Asp1173Ala)" "" "" "0000993853" "00000835" "50" "3877" "0" "3877" "0" "c.3877G>A" "r.(?)" "p.(Glu1293Lys)" "" "" "0000993854" "00000835" "50" "4066" "0" "4066" "0" "c.4066G>A" "r.(?)" "p.(Ala1356Thr)" "" "" "0000993855" "00000835" "50" "4282" "0" "4282" "0" "c.4282G>A" "r.(?)" "p.(Gly1428Ser)" "" "" "0000993856" "00000835" "50" "4295" "0" "4295" "0" "c.4295G>C" "r.(?)" "p.(Gly1432Ala)" "" "" "0000993857" "00000835" "50" "4772" "0" "4772" "0" "c.4772G>T" "r.(?)" "p.(Gly1591Val)" "" "" "0000993858" "00000835" "50" "5465" "0" "5465" "0" "c.5465G>A" "r.(?)" "p.(Gly1822Glu)" "" "" "0000993859" "00000835" "50" "5482" "0" "5482" "0" "c.5482G>T" "r.(?)" "p.(Gly1828Cys)" "" "" "0000993860" "00000835" "50" "5573" "0" "5573" "0" "c.5573T>C" "r.(?)" "p.(Ile1858Thr)" "" "" "0000993861" "00000835" "50" "5914" "0" "5914" "0" "c.5914G>A" "r.(?)" "p.(Gly1972Ser)" "" "" "0000993862" "00000835" "50" "5952" "0" "5952" "0" "c.5952T>G" "r.(?)" "p.(His1984Gln)" "" "" "0000993863" "00000835" "50" "6028" "0" "6028" "0" "c.6028C>T" "r.(?)" "p.(Arg2010Cys)" "" "" "0000993864" "00000835" "30" "6415" "0" "6415" "0" "c.6415C>T" "r.(?)" "p.(Arg2139Cys)" "" "" "0000993865" "00000835" "30" "7232" "0" "7232" "0" "c.7232G>A" "r.(?)" "p.(Arg2411Gln)" "" "" "0000993866" "00000835" "30" "7444" "0" "7444" "0" "c.7444G>C" "r.(?)" "p.(Ala2482Pro)" "" "" "0000993867" "00000835" "30" "7499" "0" "7499" "0" "c.7499C>G" "r.(?)" "p.(Thr2500Ser)" "" "" "0001013913" "00000835" "50" "5188" "0" "5188" "0" "c.5188G>A" "r.(?)" "p.(Glu1730Lys)" "" "" "0001024855" "00000835" "90" "532" "0" "532" "0" "c.532T>C" "r.(?)" "p.(Cys178Arg)" "" "" "0001024856" "00000835" "50" "1873" "0" "1873" "0" "c.1873G>A" "r.(?)" "p.(Glu625Lys)" "" "" "0001024857" "00000835" "50" "6244" "5" "6244" "5" "c.6244+5G>A" "r.spl?" "p.?" "" "" "0001024858" "00000835" "50" "6374" "0" "6374" "0" "c.6374A>G" "r.(?)" "p.(Asn2125Ser)" "" "" "0001027559" "00000835" "70" "4732" "0" "4732" "0" "c.4732G>C" "r.(?)" "p.(Val1578Leu)" "" "" "0001034114" "00000835" "50" "-3820" "0" "-3819" "0" "c.-3820_-3819insCT" "r.(?)" "p.(=)" "" "" "0001034115" "00000835" "50" "110" "0" "110" "0" "c.110T>G" "r.(?)" "p.(Ile37Ser)" "" "" "0001034116" "00000835" "30" "292" "247" "292" "247" "c.292+247G>A" "r.(=)" "p.(=)" "" "" "0001034117" "00000835" "30" "292" "8672" "292" "8672" "c.292+8672C>T" "r.(=)" "p.(=)" "" "" "0001034118" "00000835" "30" "293" "-20724" "293" "-20724" "c.293-20724C>T" "r.(=)" "p.(=)" "" "" "0001034119" "00000835" "50" "755" "0" "755" "0" "c.755T>C" "r.(?)" "p.(Leu252Pro)" "" "" "0001034120" "00000835" "50" "809" "0" "809" "0" "c.809T>C" "r.(?)" "p.(Met270Thr)" "" "" "0001034121" "00000835" "50" "1640" "0" "1640" "0" "c.1640C>T" "r.(?)" "p.(Ala547Val)" "" "" "0001034122" "00000835" "50" "1658" "0" "1658" "0" "c.1658G>A" "r.(?)" "p.(Arg553His)" "" "" "0001034123" "00000835" "50" "1700" "0" "1700" "0" "c.1700C>T" "r.(?)" "p.(Ser567Leu)" "" "" "0001034124" "00000835" "10" "1869" "0" "1869" "0" "c.1869C>T" "r.(?)" "p.(Asp623=)" "" "" "0001034125" "00000835" "30" "2382" "0" "2382" "0" "c.2382C>T" "r.(?)" "p.(=)" "" "" "0001034126" "00000835" "10" "2493" "0" "2493" "0" "c.2493C>T" "r.(?)" "p.(Pro831=)" "" "" "0001034127" "00000835" "50" "2644" "0" "2644" "0" "c.2644G>C" "r.(?)" "p.(Val882Leu)" "" "" "0001034128" "00000835" "30" "3724" "9" "3724" "9" "c.3724+9C>A" "r.(=)" "p.(=)" "" "" "0001034129" "00000835" "30" "3857" "0" "3857" "0" "c.3857C>T" "r.(?)" "p.(Ala1286Val)" "" "" "0001034130" "00000835" "50" "3899" "-4" "3899" "-4" "c.3899-4G>A" "r.spl?" "p.?" "" "" "0001034131" "00000835" "50" "4033" "0" "4049" "0" "c.4033_4049del" "r.(?)" "p.(Lys1345Argfs*16)" "" "" "0001034132" "00000835" "30" "4040" "0" "4040" "0" "c.4040A>G" "r.(?)" "p.(Asn1347Ser)" "" "" "0001034133" "00000835" "50" "4097" "0" "4097" "0" "c.4097A>C" "r.(?)" "p.(Glu1366Ala)" "" "" "0001034134" "00000835" "50" "4288" "0" "4288" "0" "c.4288G>A" "r.(?)" "p.(Gly1430Arg)" "" "" "0001034135" "00000835" "50" "4390" "0" "4390" "0" "c.4390G>C" "r.(?)" "p.(Gly1464Arg)" "" "" "0001034136" "00000835" "30" "4390" "617" "4390" "617" "c.4390+617C>T" "r.(=)" "p.(=)" "" "" "0001034137" "00000835" "10" "4515" "-16" "4515" "-9" "c.4515-16_4515-9del" "r.(=)" "p.(=)" "" "" "0001034138" "00000835" "30" "4872" "0" "4872" "0" "c.4872C>T" "r.(?)" "p.(Ile1624=)" "" "" "0001034139" "00000835" "30" "5091" "0" "5091" "0" "c.5091C>T" "r.(?)" "p.(=)" "" "" "0001034140" "00000835" "30" "5426" "-10" "5426" "-10" "c.5426-10G>A" "r.(=)" "p.(=)" "" "" "0001034141" "00000835" "30" "6438" "0" "6438" "0" "c.6438G>A" "r.(?)" "p.(Val2146=)" "" "" "0001034142" "00000835" "50" "6490" "0" "6490" "0" "c.6490G>A" "r.(?)" "p.(Val2164Met)" "" "" "0001034143" "00000835" "50" "7690" "0" "7690" "0" "c.7690G>A" "r.(?)" "p.(Val2564Ile)" "" "" "0001045308" "00000835" "90" "2516" "0" "2516" "0" "c.2516T>A" "r.(?)" "p.(Val839Asp)" "" "" "0001048190" "00000835" "70" "1601" "0" "1601" "0" "c.1601T>G" "r.(?)" "p.(Ile534Ser)" "" "" "0001051374" "00000835" "50" "906" "2" "906" "2" "c.906+2T>G" "r.spl?" "p.?" "" "" "0001051375" "00000835" "50" "1409" "0" "1409" "0" "c.1409G>A" "r.(?)" "p.(Arg470Gln)" "" "" "0001051376" "00000835" "50" "1615" "0" "1615" "0" "c.1615T>C" "r.(?)" "p.(Phe539Leu)" "" "" "0001051377" "00000835" "50" "2149" "0" "2149" "0" "c.2149A>T" "r.(?)" "p.(Thr717Ser)" "" "" "0001051378" "00000835" "50" "3416" "0" "3416" "0" "c.3416C>T" "r.(?)" "p.(Ser1139Leu)" "" "" "0001051379" "00000835" "50" "3770" "0" "3770" "0" "c.3770C>T" "r.(?)" "p.(Pro1257Leu)" "" "" "0001051380" "00000835" "50" "4051" "0" "4051" "0" "c.4051G>A" "r.(?)" "p.(Val1351Met)" "" "" "0001051381" "00000835" "50" "4391" "-789" "4391" "-789" "c.4391-789G>A" "r.(=)" "p.(=)" "" "" "0001051382" "00000835" "50" "4759" "0" "4759" "0" "c.4759C>T" "r.(?)" "p.(Arg1587Cys)" "" "" "0001051383" "00000835" "30" "5426" "-4" "5426" "-4" "c.5426-4C>T" "r.spl?" "p.?" "" "" "0001051384" "00000835" "50" "6221" "0" "6221" "0" "c.6221A>G" "r.(?)" "p.(Lys2074Arg)" "" "" "0001051385" "00000835" "30" "6416" "0" "6416" "0" "c.6416G>A" "r.(?)" "p.(Arg2139His)" "" "" "0001051386" "00000835" "50" "6601" "0" "6601" "0" "c.6601C>T" "r.(?)" "p.(Pro2201Ser)" "" "" "0001051387" "00000835" "30" "6741" "0" "6741" "0" "c.6741G>A" "r.(?)" "p.(Ser2247=)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 212 "{{screeningid}}" "{{variantid}}" "0000000209" "0000003872" "0000000209" "0000003873" "0000000210" "0000011854" "0000000210" "0000011855" "0000000210" "0000011856" "0000081678" "0000132352" "0000104504" "0000169414" "0000248440" "0000501354" "0000248441" "0000501355" "0000248442" "0000501356" "0000248444" "0000501358" "0000248445" "0000501359" "0000248446" "0000501360" "0000248447" "0000501361" "0000248448" "0000501362" "0000248449" "0000501363" "0000248450" "0000501364" "0000248451" "0000501365" "0000248452" "0000501366" "0000248453" "0000501367" "0000248454" "0000501368" "0000248455" "0000501369" "0000248456" "0000501370" "0000248457" "0000501371" "0000248458" "0000501372" "0000248459" "0000501373" "0000248460" "0000501374" "0000248461" "0000501375" "0000248462" "0000501376" "0000248463" "0000501377" "0000248464" "0000501378" "0000248465" "0000501379" "0000248466" "0000501380" "0000248468" "0000501382" "0000248469" "0000501383" "0000248470" "0000501384" "0000248471" "0000501385" "0000248472" "0000501386" "0000248473" "0000501387" "0000248474" "0000501388" "0000248475" "0000501389" "0000248476" "0000501390" "0000248477" "0000501391" "0000248478" "0000501392" "0000248480" "0000501394" "0000248481" "0000501395" "0000248482" "0000501396" "0000248483" "0000501397" "0000248484" "0000501398" "0000248485" "0000501399" "0000248486" "0000501400" "0000248487" "0000501401" "0000248488" "0000501402" "0000248489" "0000501403" "0000248489" "0000501460" "0000248489" "0000501484" "0000248490" "0000501404" "0000248491" "0000501405" "0000248492" "0000501406" "0000248493" "0000501407" "0000248494" "0000501408" "0000248495" "0000501409" "0000248496" "0000501410" "0000248497" "0000501411" "0000248498" "0000501412" "0000248499" "0000501413" "0000248500" "0000501414" "0000248501" "0000501415" "0000248502" "0000501416" "0000248503" "0000501417" "0000248504" "0000501418" "0000248505" "0000501419" "0000248506" "0000501420" "0000248507" "0000501421" "0000248508" "0000501422" "0000248509" "0000501423" "0000248510" "0000501424" "0000248511" "0000501425" "0000248512" "0000501426" "0000248513" "0000501427" "0000248514" "0000501428" "0000248515" "0000501429" "0000248516" "0000501430" "0000248517" "0000501431" "0000248518" "0000501432" "0000248519" "0000501433" "0000248520" "0000501434" "0000248521" "0000501435" "0000248522" "0000501436" "0000248523" "0000501437" "0000248524" "0000501438" "0000248525" "0000501439" "0000248526" "0000501440" "0000248527" "0000501441" "0000248528" "0000501442" "0000248529" "0000501443" "0000248530" "0000501444" "0000248531" "0000501445" "0000248532" "0000501446" "0000248533" "0000501447" "0000248534" "0000501448" "0000248534" "0000501449" "0000248535" "0000501450" "0000248535" "0000501451" "0000248536" "0000501452" "0000248536" "0000501453" "0000248537" "0000501454" "0000248537" "0000501455" "0000248538" "0000501456" "0000248538" "0000501457" 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