### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KRIT1) # 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}}" "KRIT1" "KRIT1, ankyrin repeat containing" "7" "q21.2" "unknown" "NG_012964.1" "UD_132118371641" "" "https://www.LOVD.nl/KRIT1" "" "1" "1573" "889" "604214" "1" "1" "1" "1" "Alias CCM1.\r\n This database is one of the \"Vascular anomalies and lymphedema\" gene variant databases, curated by the Laboratory of Human Molecular Genetics, de Duve Institute, Brussels (Belgium).\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/KRIT1_codingDNA.html" "1" "" "
This database is one of the \"Vascular anomalies and lymphedema\" gene variant databases." "-1" "" "-1" "00001" "2010-03-09 00:00:00" "00006" "2018-05-11 17:50:37" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00025691" "KRIT1" "transcript variant 3" "004" "NM_194454.1" "" "NP_919436.1" "" "" "" "-545" "3978" "2211" "91875228" "91828283" "00006" "2022-01-30 16:40:22" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00459" "CCM" "cerebral cavernous malformations (CCM)" "" "" "" "" "" "00006" "2014-07-18 15:09:38" "00006" "2018-02-20 09:44:39" "01183" "BAVM" "arteriovenous malformation, cerebral, brain (BAVM" "" "108010" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-01-11 15:49:56" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05397" "CCM1" "cerebral cavernous malformations, type 1" "AD" "116860" "" "" "" "00006" "2018-02-20 09:46:29" "00006" "2022-06-17 15:06:46" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "KRIT1" "05397" ## Individuals ## Do not remove or alter this header ## ## Count = 141 "{{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}}" "00017926" "" "" "" "2" "" "00748" "{PMID:Mondejar 2014:24466005}" "" "M" "no" "Spain" "" "0" "" "" "white" "" "00153309" "" "" "" "1" "" "02390" "" "" "M" "-" "Taiwan" "" "0" "" "" "" "" "00153310" "" "" "" "1" "" "02390" "" "" "F" "-" "Taiwan" "" "0" "" "" "" "" "00153311" "" "" "" "1" "" "02390" "" "" "M" "?" "Taiwan" "" "0" "" "" "" "" "00153312" "" "" "" "1" "" "02390" "" "" "M" "?" "Taiwan" "" "0" "" "" "" "" "00164072" "" "" "" "1" "" "01764" "" "" "" "" "Belgium" "" "0" "" "" "" "" "00164073" "" "" "" "1" "" "01764" "" "" "" "" "Belgium" "" "0" "" "" "" "" "00164074" "" "" "" "1" "" "01764" "" "" "" "" "Belgium" "" "0" "" "" "" "" "00164075" "" "" "" "1" "" "01764" "" "" "" "" "Belgium" "" "0" "" "" "" "" "00164076" "" "" "" "1" "" "01764" "" "" "" "" "Belgium" "" "0" "" "" "" "" "00164077" "" "" "" "1" "" "01764" "" "" "" "" "Belgium" "" "0" "" "" "" "" "00164078" "" "" "" "1" "" "01764" "" "" "" "" "Belgium" "" "0" "" "" "" "" "00164079" "" "" "" "1" "" "01764" "" "" "" "" "Belgium" "" "0" "" "" "" "" "00164080" "" "" "" "1" "" "01764" "" "" "" "" "Belgium" "" "0" "" "" "" "" "00164081" "" "" "" "1" "" "01764" "" "" "" "" "Belgium" "" "0" "" "" "" "" "00164082" "" "" "" "1" "" "01764" "" "" "" "" "Belgium" "" "0" "" "" "" "" "00164083" "" "" "" "1" "" "01764" "" "" "" "" "Belgium" "" "0" "" "" "" "" "00164084" "" "" "" "1" "" "01764" "" "" "" "" "Belgium" "" "0" "" "" "" "" "00164085" "" "" "" "1" "" "01764" "" "" "" "" "Belgium" "" "0" "" "" "" "" "00164086" "" "" "" "1" "" "01764" "" "" "" "" "Belgium" "" "0" "" "" "" "" "00164087" "" "" "" "1" "" "01764" "" "" "" "" "Belgium" "" "0" "" "" "" "" "00164088" "" "" "" "1" "" "01764" "" "" "" "" "Belgium" "" "0" "" "" "" "" "00164089" "" "" "" "1" "" "01764" "" "" "" "" "Belgium" "" "0" "" "" "" "" "00165057" "" "" "" "1" "" "02515" "" "" "?" "?" "" "" "0" "" "" "" "" "00165058" "" "" "" "1" "" "02515" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00165059" "" "" "" "1" "" "02515" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00165061" "" "" "" "1" "" "02515" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00165062" "" "" "" "1" "" "02515" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00165063" "" "" "" "1" "" "02515" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00165064" "" "" "" "1" "" "02515" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00165065" "" "" "" "1" "" "02515" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00165066" "" "" "" "1" "" "02515" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00165067" "" "" "" "1" "" "02515" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00165068" "" "" "" "1" "" "02515" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00165069" "" "" "" "1" "" "02515" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00165070" "" "" "" "1" "" "02515" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00165071" "" "" "" "1" "" "02515" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00165072" "" "" "" "1" "" "02515" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00165073" "" "" "" "1" "" "02515" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00165074" "" "" "" "1" "" "02515" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00165075" "" "" "" "1" "" "02515" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00165076" "" "" "" "1" "" "02515" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00165077" "" "" "" "1" "" "02515" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00165692" "" "" "" "5" "" "02515" "{PMID:Nardella 2018:30161288}" "2 families with 5 affected" "" "" "Italy" "" "0" "" "" "white" "?" "00165693" "" "" "" "1" "" "02515" "{PMID:Nardella 2018:30161288}" "family, 1 affected" "M" "" "Italy" "" "0" "" "" "white" "?" "00165694" "" "" "" "1" "" "02515" "{PMID:Nardella 2018:30161288}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "white" "?" "00170852" "" "" "" "1" "" "02515" "paper submitted" "" "F" "?" "Italy" "19y" "0" "" "" "" "30" "00170853" "" "" "" "1" "" "02515" "" "" "F" "?" "Italy" "" "0" "" "" "" "31" "00170854" "" "" "" "1" "" "02515" "" "" "M" "?" "Italy" "" "0" "" "" "" "32" "00170857" "" "" "" "1" "" "02515" "" "" "F" "" "Italy" "" "0" "" "" "" "33" "00173726" "" "" "" "1" "" "02515" "" "" "F" "" "Italy" "" "0" "" "" "" "40" "00173727" "" "" "" "1" "" "02515" "" "" "F" "" "Italy" "" "0" "" "" "" "40" "00289359" "" "" "" "2" "" "03613" "{DOI:Cerase 2010:10.1097/WNO.0b013e3181ceb428}, \r\n{DOI:Battistini 2020:10.1002/humu.24000}" "2 generation family, 2 affected (proband and proband\'s father). Father with cutaneous angiomas." "F" "no" "Italy" ">45y" "0" "yes" "none" "white" "VF" "00289360" "" "" "00289359" "1" "" "03613" "" "" "M" "no" "Italy" ">72y" "" "" "" "white" "VA" "00289361" "" "" "" "3" "" "03613" "" "2 generation family, 3 affected (proband,\r\nproband\'s mother and uncle)" "M" "no" "Italy" ">27y" "" "yes" "none" "white" "CCM42" "00289362" "" "" "00289361" "1" "" "03613" "" "" "F" "no" "Italy" ">49y" "" "yes" "" "white" "CCM45" "00289363" "" "" "00289361" "1" "" "03613" "" "" "M" "no" "Italy" ">51y" "" "yes" "" "white" "CCM46" "00289443" "" "" "" "3" "" "03613" "" "3 affected family members (proband, proband\'s sister and brother)" "F" "no" "Italy" ">53y" "" "yes" "" "white" "CCM33" "00289444" "" "" "00289443" "1" "" "03613" "" "" "M" "no" "Italy" ">54y" "0" "" "" "white" "CCM77" "00289445" "" "" "00289443" "1" "" "03613" "" "" "F" "no" "Italy" ">56y" "" "yes" "" "white" "CCM78" "00289446" "" "" "" "2" "" "03613" "" "" "F" "no" "Italy" "" "" ">6y" "" "white" "CCM51" "00289447" "" "" "00289446" "1" "" "03613" "" "" "F" "no" "Italy" ">27y" "" "" "" "white" "CCM52" "00289448" "" "" "" "2" "" "03613" "" "" "F" "no" "Italy" ">30y" "" "" "" "white" "CCM74" "00289449" "" "" "" "1" "" "03613" "" "" "M" "no" "Italy" ">59y" "" "" "" "white" "CCM4" "00289450" "" "" "" "1" "" "03613" "" "" "M" "" "Italy" ">61y" "" "" "" "white" "CCM32" "00295507" "" "" "" "1" "" "03613" "" "Same mutation published in DOI:10.1007/s12031-016-0836-2" "M" "no" "Italy" ">34y" "" "yes" "" "white" "CCM72" "00295508" "" "" "" "1" "" "03613" "" "" "M" "no" "Italy" "73y" "" "" "" "Sardinian" "CCM63" "00311098" "" "" "" "1" "" "02515" "" "" "F" "" "Italy" "" "" "" "" "" "CCM_KRIT1" "00363501" "" "" "" "1" "" "01164" "" "" "F" "?" "Germany" "" "0" "" "" "" "178672" "00401280" "" "" "" "1" "" "00006" "{PMID:Riant 2014:24251678}" "3-generation family, 3 affected 2F, 2M)" "F;M" "" "France" "" "0" "" "" "" "family" "00418997" "" "" "" "3" "" "00006" "{PMID:Nardella 2018:30161288}" "3-generation family, affected grandmother/father/daughter(2F, M)" "F;M" "" "Italy" "" "0" "" "" "" "" "00418998" "" "" "" "3" "" "00006" "{PMID:Nardella 2018:30161288}" "2-generation family, affected father/2 sons (3M)" "M" "" "Italy" "" "0" "" "" "" "" "00418999" "" "" "" "2" "" "00006" "{PMID:Nardella 2018:30161288}" "2-generation family, affected father/daughter (F, M)" "F;M" "" "Italy" "" "0" "" "" "" "" "00419000" "" "" "" "3" "" "00006" "{PMID:Nardella 2018:30161288}" "2-generation family, affected father/son/daughter (F, 2M)" "F;M" "" "Italy" "" "0" "" "" "" "" "00419001" "" "" "" "3" "" "00006" "{PMID:Nardella 2018:30161288}" "2-generation family, affected father/twin son and daughter (F, 2M)" "F;M" "" "Italy" "" "0" "" "" "" "" "00419002" "" "" "" "3" "" "00006" "{PMID:Nardella 2018:30161288}" "2-generation family, affected father/daughter/son (F, 2M)" "F;M" "" "Italy" "" "0" "" "" "" "" "00419003" "" "" "" "2" "" "00006" "{PMID:Nardella 2018:30161288}" "2-generation family, affected father/daughter (F, M)" "F;M" "" "Italy" "" "0" "" "" "" "" "00419004" "" "" "" "2" "" "00006" "{PMID:Nardella 2018:30161288}" "2-generation family, 2 affected (2F)" "F" "" "Italy" "" "0" "" "" "" "FamIPatIII6" "00419005" "" "" "00419004" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "relative" "F" "" "Italy" "" "0" "" "" "" "FamIPatIV1" "00419006" "" "" "" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "" "" "" "Italy" "" "0" "" "" "" "" "00419007" "" "" "" "2" "" "00006" "{PMID:Nardella 2018:30161288}" "2-generation family, affected father/son (2M)" "M" "" "Italy" "" "0" "" "" "" "" "00419008" "" "" "" "2" "" "00006" "{PMID:Nardella 2018:30161288}" "" "" "" "Italy" "" "0" "" "" "" "" "00419009" "" "" "" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "" "" "" "Italy" "" "0" "" "" "" "" "00419010" "" "" "" "3" "" "00006" "{PMID:Nardella 2018:30161288}" "3-generation family, affected grandmother/mother/daughter" "F" "" "Italy" "" "0" "" "" "" "FamIIPatI2" "00419011" "" "" "00419010" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "mother" "F" "" "Italy" "" "0" "" "" "" "FamIIPatII2" "00419012" "" "" "00419010" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "granddaughter" "F" "" "Italy" "" "0" "" "" "" "FamIIPatIII1" "00419013" "" "" "" "2" "" "00006" "{PMID:Nardella 2018:30161288}" "4-generation family, affected mother/daughter (2F)" "M" "" "Italy" "" "0" "" "" "" "sporadic" "00419014" "" "" "" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "" "" "00419015" "" "" "" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "" "" "00419016" "" "" "" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "" "" "00419017" "" "" "" "2" "" "00006" "{PMID:Nardella 2018:30161288}" "2-generation family, affected father/son (2M)" "M" "" "Italy" "" "0" "" "" "" "" "00419018" "" "" "" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "" "" "00419019" "" "" "" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "" "" "" "Italy" "" "0" "" "" "" "" "00419020" "" "" "" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "" "" "" "Italy" "" "0" "" "" "" "" "00419021" "" "" "" "2" "" "00006" "{PMID:Nardella 2018:30161288}" "2-generation family, affected father/daughter (F, M)" "F;M" "" "Italy" "" "0" "" "" "" "" "00419022" "" "" "" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "" "" "00419023" "" "" "" "2" "" "00006" "{PMID:Nardella 2018:30161288}" "2-generation family, affected father/son (2M)" "M" "" "Italy" "" "0" "" "" "" "sporadic" "00419024" "" "" "" "2" "" "00006" "{PMID:Nardella 2018:30161288}" "2-generation family, affected mother/daughter (2F)" "F" "" "Italy" "" "0" "" "" "" "" "00419025" "" "" "" "3" "" "00006" "{PMID:Nardella 2018:30161288}" "2-generation family, affected mother/son/daughter (2F, M)" "F" "" "Italy" "" "0" "" "" "" "FamIII" "00419026" "" "" "" "6" "" "00006" "{PMID:Nardella 2018:30161288}" "3-generation family, 6 affected (5F, M)" "F" "" "Italy" "" "0" "" "" "" "FamIVPatI2" "00419027" "" "" "00419026" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "relative" "M" "" "Italy" "" "0" "" "" "" "FamIVPatII4" "00419028" "" "" "00419026" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "relative" "F" "" "Italy" "" "0" "" "" "" "FamIVPatII5" "00419029" "" "" "00419026" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "relative" "F" "" "Italy" "" "0" "" "" "" "FamIVPatII7" "00419030" "" "" "00419026" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "relative" "F" "" "Italy" "" "0" "" "" "" "FamIVPatIII2" "00419031" "" "" "00419026" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "relative" "F" "" "Italy" "" "0" "" "" "" "FamIVPatIII3" "00419032" "" "" "" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "patient" "M" "" "Italy" "" "0" "" "" "" "sporadic" "00419033" "" "" "" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "patient" "F" "" "Italy" "" "0" "" "" "" "sporadic" "00419034" "" "" "" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "patient" "F" "" "Italy" "" "0" "" "" "" "sporadic" "00419035" "" "" "" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "son" "M" "" "Italy" "" "0" "" "" "" "" "00419036" "" "" "" "2" "" "00006" "{PMID:Nardella 2018:30161288}" "2-generation family, affected father/daughter (F, M)" "F;M" "" "Italy" "" "0" "" "" "" "" "00419037" "" "" "" "2" "" "00006" "{PMID:Nardella 2018:30161288}" "3-generation family, affected mother/daughter (2F)" "F" "" "Italy" "" "0" "" "" "" "" "00419038" "" "" "" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "" "" "00419039" "" "" "" "2" "" "00006" "{PMID:Nardella 2018:30161288}" "2-generation family, affected father/daughter (F, M)" "F;M" "" "Italy" "" "0" "" "" "" "" "00419040" "" "" "" "4" "" "00006" "{PMID:Nardella 2018:30161288}" "3-generation family, 4 affected (F, 2M)" "" "" "Italy" "" "0" "" "" "" "" "00419041" "" "" "" "3" "" "00006" "{PMID:Nardella 2018:30161288}" "2-generation family, affected father/2 daughters (2F, M)" "" "" "Italy" "" "0" "" "" "" "" "00419042" "" "" "" "2" "" "00006" "{PMID:Nardella 2018:30161288}" "2-generation family, affected mother/daughter (2F)" "F" "" "Italy" "" "0" "" "" "" "" "00419043" "" "" "" "4" "" "00006" "{PMID:Nardella 2018:30161288}" "2-generation family, affected mother/2 sons and daughter (2F, 2M)" "F" "" "Italy" "" "0" "" "" "" "FamVPayI2" "00419044" "" "" "00419043" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "son" "M" "" "Italy" "" "0" "" "" "" "FamVPayII1" "00419045" "" "" "00419043" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "son" "M" "" "Italy" "" "0" "" "" "" "FamVPayII2" "00419046" "" "" "00419043" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "daughter" "F" "" "Italy" "" "0" "" "" "" "FamVPayII4" "00419047" "" "" "" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "" "F" "" "Italy" "" "0" "" "" "" "sporadic" "00419048" "" "" "" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "" "" "" "Italy" "" "0" "" "" "" "" "00419049" "" "" "" "2" "" "00006" "{PMID:Nardella 2018:30161288}" "3-generation family, 2 affected sisters" "F" "" "Italy" "" "0" "" "" "" "FamVIPatI2" "00419050" "" "" "00419049" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "" "M" "" "Italy" "" "0" "" "" "" "FamVIPatII1" "00419051" "" "" "" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "family, 1 affected" "F" "" "Italy" "" "0" "" "" "" "" "00419052" "" "" "" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "family, 1 affected" "F" "" "Italy" "" "0" "" "" "" "" "00419053" "" "" "" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "" "" "" "Italy" "" "0" "" "" "" "" "00419054" "" "" "" "2" "" "00006" "{PMID:Nardella 2018:30161288}" "2-generation family, affected father/daughter (F, M)" "F;M" "" "Italy" "" "0" "" "" "" "" "00419055" "" "" "" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "" "" "" "Italy" "" "0" "" "" "" "" "00419056" "" "" "" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "" "" "" "Italy" "" "0" "" "" "" "" "00419057" "" "" "" "2" "" "00006" "{PMID:Nardella 2018:30161288}" "2-generation family, affected father/daughter (F, M)" "F;M" "" "Italy" "" "0" "" "" "" "" "00419058" "" "" "" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "" "" "" "Italy" "" "0" "" "" "" "" "00419059" "" "" "" "2" "" "00006" "{PMID:Nardella 2018:30161288}" "3-generation family, 2 affected sisters" "F" "" "Italy" "" "0" "" "" "" "" "00419060" "" "" "" "2" "" "00006" "{PMID:Nardella 2018:30161288}" "2-generation family, 2 affected sisters" "F" "" "Italy" "" "0" "" "" "" "" "00419061" "" "" "" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "" "" "00419062" "" "" "" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "" "" "" "Italy" "" "0" "" "" "" "" "00419063" "" "" "" "3" "" "00006" "{PMID:Nardella 2018:30161288}" "2-generation family, affected mother/2 sons (F, 2M)" "F;M" "" "Italy" "" "0" "" "" "" "" "00419064" "" "" "" "2" "" "00006" "{PMID:Nardella 2018:30161288}" "1-generation family, 2 affected" "" "" "Italy" "" "0" "" "" "" "" "00438396" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat115" "00461065" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00464523" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 141 "{{individualid}}" "{{diseaseid}}" "00017926" "00459" "00153309" "00459" "00153310" "00459" "00153311" "00459" "00153312" "00459" "00164072" "00459" "00164073" "00459" "00164074" "00459" "00164075" "00459" "00164076" "00459" "00164077" "00459" "00164078" "00459" "00164079" "00459" "00164080" "00459" "00164081" "00459" "00164082" "00459" "00164083" "00459" "00164084" "00459" "00164085" "00459" "00164086" "00459" "00164087" "00459" "00164088" "00459" "00164089" "00459" "00165057" "05397" "00165058" "00459" "00165059" "00459" "00165061" "00459" "00165062" "00459" "00165063" "00459" "00165064" "00459" "00165065" "00459" "00165066" "00459" "00165067" "00459" "00165068" "00459" "00165069" "00459" "00165070" "00459" "00165071" "00459" "00165072" "00459" "00165073" "00459" "00165074" "00459" "00165075" "00459" "00165076" "00459" "00165077" "00459" "00165692" "05397" "00165693" "05397" "00165694" "05397" "00170852" "01183" "00170853" "05397" "00170854" "05397" "00170857" "05397" "00173726" "05397" "00173727" "05397" "00289359" "05397" "00289360" "05397" "00289361" "05397" "00289362" "05397" "00289363" "05397" "00289443" "05397" "00289444" "05397" "00289445" "05397" "00289446" "05397" "00289447" "05397" "00289448" "05397" "00289449" "05397" "00289450" "05397" "00295507" "05397" "00295508" "05397" "00311098" "05397" "00363501" "00459" "00401280" "00459" "00418997" "00459" "00418998" "00459" "00418999" "00459" "00419000" "00459" "00419001" "00459" "00419002" "00459" "00419003" "00459" "00419004" "00459" "00419005" "00459" "00419006" "00459" "00419007" "00459" "00419008" "00459" "00419009" "00459" "00419010" "00459" "00419011" "00459" "00419012" "00459" "00419013" "00459" "00419014" "00459" "00419015" "00459" "00419016" "00459" "00419017" "00459" "00419018" "00459" "00419019" "00459" "00419020" "00459" "00419021" "00459" "00419022" "00459" "00419023" "00459" "00419024" "00459" "00419025" "00459" "00419026" "00459" "00419027" "00459" "00419028" "00459" "00419029" "00459" "00419030" "00459" "00419031" "00459" "00419032" "00459" "00419033" "00459" "00419034" "00459" "00419035" "00459" "00419036" "00459" "00419037" "00459" "00419038" "00459" "00419039" "00459" "00419040" "00459" "00419041" "00459" "00419042" "00459" "00419043" "00459" "00419044" "00459" "00419045" "00459" "00419046" "00459" "00419047" "00459" "00419048" "00459" "00419049" "00459" "00419050" "00459" "00419051" "00459" "00419052" "00459" "00419053" "00459" "00419054" "00459" "00419055" "00459" "00419056" "00459" "00419057" "00459" "00419058" "00459" "00419059" "00459" "00419060" "00459" "00419061" "00459" "00419062" "00459" "00419063" "00459" "00419064" "00459" "00438396" "04270" "00461065" "00198" "00464523" "00459" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00459, 01183, 04270, 05397 ## Count = 139 "{{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}}" "0000016800" "00459" "00017926" "00748" "Familial, autosomal dominant" "45y" "multiple cavernous malformations on MRI" "" "" "" "" "" "" "" "" "" "" "" "0000125991" "00459" "00153309" "02390" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000125992" "00459" "00153310" "02390" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000125993" "00459" "00153311" "02390" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000125994" "00459" "00153312" "02390" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000129182" "00459" "00164072" "01764" "-" "" "" "" "" "" "" "" "" "" "" "CCM-1" "cerebral cavernous malformations" "" "0000129183" "00459" "00164073" "01764" "-" "" "" "" "" "" "" "" "" "" "" "CCM-1" "cerebral cavernous malformations" "" "0000129184" "00459" "00164074" "01764" "-" "" "" "" "" "" "" "" "" "" "" "CCM-1" "cerebral cavernous malformations" "" "0000129185" "00459" "00164075" "01764" "-" "" "" "" "" "" "" "" "" "" "" "CCM-1" "cerebral cavernous malformations" "" "0000129186" "00459" "00164076" "01764" "-" "" "" "" "" "" "" "" "" "" "" "CCM-1" "cerebral cavernous malformations" "" "0000129187" "00459" "00164077" "01764" "-" "" "" "" "" "" "" "" "" "" "" "CCM-1" "cerebral cavernous malformations" "" "0000129188" "00459" "00164078" "01764" "-" "" "" "" "" "" "" "" "" "" "" "CCM-1" "cerebral cavernous malformations" "" "0000129189" "00459" "00164079" "01764" "-" "" "" "" "" "" "" "" "" "" "" "CCM-1" "cerebral cavernous malformations" "" "0000129190" "00459" "00164080" "01764" "-" "" "" "" "" "" "" "" "" "" "" "CCM-1" "cerebral cavernous malformations" "" "0000129191" "00459" "00164081" "01764" "-" "" "" "" "" "" "" "" "" "" "" "CCM-1" "cerebral cavernous malformations" "" "0000129192" "00459" "00164082" "01764" "-" "" "" "" "" "" "" "" "" "" "" "CCM-1" "cerebral cavernous malformations" "" "0000129193" "00459" "00164083" "01764" "-" "" "" "" "" "" "" "" "" "" "" "CCM-1" "cerebral cavernous malformations" "" "0000129194" "00459" "00164084" "01764" "-" "" "" "" "" "" "" "" "" "" "" "CCM-1" "cerebral cavernous malformations" "" "0000129195" "00459" "00164085" "01764" "-" "" "" "" "" "" "" "" "" "" "" "CCM-1" "cerebral cavernous malformations" "" "0000129196" "00459" "00164086" "01764" "-" "" "" "" "" "" "" "" "" "" "" "CCM-1" "cerebral cavernous malformations" "" "0000129197" "00459" "00164087" "01764" "-" "" "" "" "" "" "" "" "" "" "" "CCM-1" "cerebral cavernous malformations" "" "0000129198" "00459" "00164088" "01764" "-" "" "" "" "" "" "" "" "" "" "" "CCM-1" "cerebral cavernous malformations" "" "0000129199" "00459" "00164089" "01764" "-" "" "" "" "" "" "" "" "" "" "" "CCM-1" "cerebral cavernous malformations" "" "0000129929" "00459" "00165058" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM-1" "cerebral cavernous malformations" "" "0000129930" "00459" "00165059" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM-1" "cerebral cavernous malformations" "" "0000129932" "00459" "00165061" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM-1" "cerebral cavernous malformations" "" "0000129933" "00459" "00165062" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM-1" "cerebral cavernous malformations" "" "0000129934" "00459" "00165063" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM-1" "cerebral cavernous malformations" "" "0000129935" "00459" "00165064" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM-1" "cerebral cavernous malformations" "" "0000129936" "00459" "00165065" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM-1" "cerebral cavernous malformations" "" "0000129937" "00459" "00165066" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM-1" "cerebral cavernous malformations" "" "0000129938" "00459" "00165067" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM-1" "cerebral cavernous malformations" "" "0000129939" "00459" "00165068" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM-1" "cerebral cavernous malformations" "" "0000129940" "00459" "00165069" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM-1" "cerebral cavernous malformations" "" "0000129941" "00459" "00165070" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM-1" "cerebral cavernous malformations" "" "0000129942" "00459" "00165071" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM-1" "cerebral cavernous malformations" "" "0000129943" "00459" "00165072" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM-1" "cerebral cavernous malformations" "" "0000129944" "00459" "00165073" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM-1" "cerebral cavernous malformations" "" "0000129945" "00459" "00165074" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM-1" "cerebral cavernous malformations" "" "0000129946" "00459" "00165075" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM-1" "cerebral cavernous malformations" "" "0000129947" "00459" "00165076" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM-1" "cerebral cavernous malformations" "" "0000129948" "00459" "00165077" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM-1" "cerebral cavernous malformations" "" "0000129957" "05397" "00165057" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM" "CCM" "" "0000130556" "05397" "00165692" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM-1" "cerebral cavernous malformations" "" "0000130557" "05397" "00165693" "02515" "Isolated (sporadic)" "51y" "headache/migraine (HP:0002076); hemiparesis (HP:0001269); sovratentorial hemangiomas; cerebellar hemangiomas; bilateral lesions" "45y" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000130558" "05397" "00165694" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM-1" "cerebral cavernous malformations" "" "0000135713" "01183" "00170852" "02515" "Familial" "" "Intracranial haemorrage,Cerebellar hemangiomas, bilateral lesion" "" "" "" "" "" "" "" "" "CCM-1" "CCM" "" "0000135714" "05397" "00170853" "02515" "Familial" "" "Cerebellar hemangiomas, Sovratentorial hemangiomas" "" "" "" "" "" "" "" "" "CCM-1" "CCM" "" "0000135715" "05397" "00170854" "02515" "Familial" "" "Headache (HP:0002076)" "" "" "HP:0002076" "" "" "" "" "" "CCM-1" "CCM" "" "0000135719" "05397" "00170857" "02515" "Familial" "" "Headache (HP:0002076), Cerebellar hemangiomas, Sovratentorial hemangiomas" "" "" "" "" "" "" "" "" "CCM-1" "CCM" "" "0000138580" "05397" "00173726" "02515" "Familial" "" "Intracranial haemorrage, fatigable weakness of skeletal (HP:0030197),Cerebellar hemangiomas, bilateral lesion" "" "" "" "" "" "" "" "" "CCM-1" "CCM" "" "0000138581" "05397" "00173727" "02515" "Familial" "" "Headache (HP:0002076)" "" "" "" "" "" "" "" "" "CCM-1" "CCM" "" "0000222977" "05397" "00289359" "03613" "Familial, autosomal dominant" "30y" "Cavernous malformation of the optic nerve" "30y" "30y" "" "" "" "" "" "" "" "" "" "0000222978" "05397" "00289360" "03613" "Familial, autosomal dominant" "57y" "HP:0000951" "" "57y" "" "" "" "" "" "" "Cerebral cavernous malformations" "" "" "0000222979" "05397" "00289361" "03613" "Familial, autosomal dominant" "20y" "HP:0001250, HP:0007359" "08y" "20y" "HP:0001250" "" "" "" "" "" "cerebral cavernous malformations, type 1 (CCM-1)" "cerebral cavernous malformations, type 1 (CCM-1)" "" "0000222980" "05397" "00289362" "03613" "Familial, autosomal dominant" "45y" "multiple CCM lesions, but clinically asymptomatic" "" "45y" "" "" "" "" "" "" "" "" "" "0000223051" "05397" "00289443" "03613" "Familial, autosomal dominant" "47y" "cutaneous angiomas" "46y" "47y" "" "" "" "" "" "" "cerebral cavernous malformations" "cerebral cavernous malformations" "" "0000223052" "05397" "00289444" "03613" "Familial, autosomal dominant" "55y" "" "39y" "39y" "" "" "" "" "" "" "cerebral cavernous malformations" "cerebral cavernous malformations" "" "0000223053" "05397" "00289445" "03613" "Familial, autosomal dominant" "55y" "" "" "52y" "" "" "" "" "" "" "cerebral cavernous malformations" "cerebral cavernous malformations" "" "0000223054" "05397" "00289446" "03613" "Familial, autosomal dominant" "01y" "" "01y" "01y" "HP:0002170" "" "" "" "" "" "cerebral cavernous malformations" "cerebral cavernous malformations" "" "0000223055" "05397" "00289447" "03613" "Familial, autosomal dominant" "23y" "" "" "" "" "" "" "" "" "" "" "" "" "0000223056" "05397" "00289448" "03613" "Familial, autosomal dominant" "29y" "" "" "22y" "HP:0001342, HP:0001250" "" "" "" "" "" "cerebral cavernous malformations" "cerebral cavernous malformations" "" "0000223057" "05397" "00289449" "03613" "Unknown" "38y" "" "38y" "38y" "HP:0001342" "" "" "" "" "" "cerebral cavernous malformations" "cerebral cavernous malformations" "" "0000223058" "05397" "00289450" "03613" "Unknown" "55y" "" "33y" "55y" "HP:0001250" "" "" "" "" "" "cerebral cavernous malformations" "cerebral cavernous malformations" "" "0000223078" "05397" "00295507" "03613" "Unknown" "33y" "" "09y" "09y" "HP:0001342, HP:0001250" "" "" "" "" "" "cerebral cavernous malformations" "cerebral cavernous malformations" "" "0000223079" "05397" "00295508" "03613" "Unknown" "72y" "" "72y" "72y" "HP:0001342" "" "" "" "" "" "cerebral cavernous malformations" "cerebral cavernous malformations" "" "0000236354" "05397" "00311098" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "CCM1" "CCM1" "" "0000258851" "00459" "00363501" "01164" "Familial, autosomal dominant" "" "Multiple intracerebral cavernomas, conspicuous family history: Cavernomas also in a son, as well as brother and father." "" "" "" "" "" "" "" "" "31y" "" "" "0000294299" "00459" "00401280" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "CCM" "multiple cerebral cavernous malformations" "" "0000310284" "00459" "00418997" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310285" "00459" "00418998" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310286" "00459" "00418999" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310287" "00459" "00419000" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310288" "00459" "00419001" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310289" "00459" "00419002" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310290" "00459" "00419003" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310291" "00459" "00419004" "00006" "Familial, autosomal dominant" "24y" "intracranial hemorrhage; fatigable weakness skeletal muscles (HP:0030197); cerebellar hemangiomas; bilateral lesions" "14y" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310292" "00459" "00419005" "00006" "Familial, autosomal dominant" "19y" "intracranial hemorrhage; cerebellar hemangiomas; bilateral lesions" "15y" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310293" "00459" "00419006" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310294" "00459" "00419007" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310295" "00459" "00419008" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310296" "00459" "00419009" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310297" "00459" "00419010" "00006" "Familial, autosomal dominant" "21y" "cerebellar hemangiomas" "19y" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310298" "00459" "00419011" "00006" "Familial, autosomal dominant" "45y" "headache/migraine (HP:0002076); intracranial hemorrhage; sovratentorial hemangiomas; cerebellar hemangiomas" "37y" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310299" "00459" "00419012" "00006" "Familial, autosomal dominant" "70y" "epilepsy (HP:0001250); intracranial hemorrhage; dementia (HP:0000726); cerebellar hemangiomas" "68y" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310300" "00459" "00419013" "00006" "Familial, autosomal dominant" "2y" "cerebellar hemangiomas" "2y" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310301" "00459" "00419014" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310302" "00459" "00419015" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310303" "00459" "00419016" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310304" "00459" "00419017" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310305" "00459" "00419018" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310306" "00459" "00419019" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310307" "00459" "00419020" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310308" "00459" "00419021" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310309" "00459" "00419022" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310310" "00459" "00419023" "00006" "Familial, autosomal dominant" "8y" "epilepsy (HP:0001250); cerebellar hemangiomas (MRI 6 lesions)" "6y" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310311" "00459" "00419024" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310312" "00459" "00419025" "00006" "Familial, autosomal dominant" "39y" "sovratentorial hemangiomas; cerebellar hemangiomas" "37y" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310313" "00459" "00419026" "00006" "Familial, autosomal dominant" "68y" "headache/migraine (HP:0002076)" "57y" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310314" "00459" "00419027" "00006" "Familial, autosomal dominant" "40y" "headache/migraine (HP:0002076); sovratentorial hemangiomas" "39y" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310315" "00459" "00419028" "00006" "Familial, autosomal dominant" "39y" "headache/migraine (HP:0002076); epilepsy (HP:0001250); behavioral abnormalities (HP:0000708); sovratentorial hemangiomas; cerebellar hemangiomas; bilateral lesions" "21y" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310316" "00459" "00419029" "00006" "Familial, autosomal dominant" "37y" "sovratentorial hemangiomas (MRI 2 lesions)" "29y" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310317" "00459" "00419030" "00006" "Familial, autosomal dominant" "9y" "intracranial hemorrhage; fatigable weakness skeletal muscles (HP:0030197); hemiparesis (HP:0001269); cerebellar hemangiomas (MRI 2 lesions)" "8m" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310318" "00459" "00419031" "00006" "Familial, autosomal dominant" "2y" "" "1y" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310319" "00459" "00419032" "00006" "Familial, autosomal dominant" "10y" "epilepsy (HP:0001250); cerebellar hemangiomas" "8y" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310320" "00459" "00419033" "00006" "Familial, autosomal dominant" "19y" "cerebellar hemangiomas" "12y" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310321" "00459" "00419034" "00006" "Familial, autosomal dominant" "49y" "epilepsy (HP:0001250); bilateral lesions" "40y" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310322" "00459" "00419035" "00006" "Familial, autosomal dominant" "69y" "" "67y" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310323" "00459" "00419036" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310324" "00459" "00419037" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310325" "00459" "00419038" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310326" "00459" "00419039" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310327" "00459" "00419040" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310328" "00459" "00419041" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310329" "00459" "00419042" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310330" "00459" "00419043" "00006" "Familial, autosomal dominant" "56y" "headache/migraine (HP:0002076)" "55y" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310331" "00459" "00419044" "00006" "Familial, autosomal dominant" "35y" "sovratentorial hemangiomas; cerebellar hemangiomas" "34y" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310332" "00459" "00419045" "00006" "Familial, autosomal dominant" "32y" "headache/migraine (HP:0002076)" "31y" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310333" "00459" "00419046" "00006" "Familial, autosomal dominant" "23y" "headache/migraine (HP:0002076); sovratentorial hemangiomas; cerebellar hemangiomas" "22y" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310334" "00459" "00419047" "00006" "Unknown" "34y" "headache/migraine (HP:0002076); epilepsy (HP:0001250); behavioral abnormalities (HP:0000708); cerebellar hemangiomas" "30y" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310335" "00459" "00419048" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310336" "00459" "00419049" "00006" "Familial, autosomal dominant" "49y" "headache/migraine (HP:0002076); cerebellar hemangiomas" "41y" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310337" "00459" "00419050" "00006" "Unknown" "25y" "headache/migraine (HP:0002076); fatigable weakness skeletal muscles (HP:0030197); hemiparesis (HP:0001269); bilateral lesions" "43y" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310338" "00459" "00419051" "00006" "Unknown" "47y" "headache/migraine (HP:0002076)" "21y" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310339" "00459" "00419052" "00006" "Unknown" "66y" "" "78y" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310340" "00459" "00419053" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310341" "00459" "00419054" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310342" "00459" "00419055" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310343" "00459" "00419056" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310344" "00459" "00419057" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310345" "00459" "00419058" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310346" "00459" "00419059" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310347" "00459" "00419060" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310348" "00459" "00419061" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310349" "00459" "00419062" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310350" "00459" "00419063" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000310351" "00459" "00419064" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM1" "cerebral cavernous malformations" "" "0000328300" "04270" "00438396" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0001281 tetany" "2y" "" "" "" "" "" "" "" "" "epilepsy" "" "0000350523" "00459" "00464523" "03544" "Isolated (sporadic)" "" "HP:0033522" "" "" "" "" "" "" "" "" "CCM" "CCM" "" ## Screenings ## Do not remove or alter this header ## ## Count = 141 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000017909" "00017926" "1" "00748" "00748" "2014-07-16 14:34:55" "" "" "MLPA" "DNA" "PBMC" "" "0000154172" "00153309" "1" "02390" "02390" "2018-02-13 09:25:23" "00006" "2018-02-13 22:48:41" "PCR;SEQ" "DNA" "blood" "" "0000154173" "00153310" "1" "02390" "02390" "2018-02-13 09:56:52" "00006" "2018-02-13 22:48:41" "PCR;SEQ" "DNA" "" "" "0000154174" "00153311" "1" "02390" "02390" "2018-02-13 12:15:30" "00006" "2018-02-13 22:48:41" "PCR;SEQ" "DNA" "" "" "0000154175" "00153312" "1" "02390" "02390" "2018-02-13 12:48:32" "00006" "2018-02-13 22:48:41" "PCR;SEQ" "DNA" "" "" "0000164939" "00164072" "1" "01764" "01764" "2010-03-10 18:02:36" "" "" "SEQ" "DNA" "" "" "0000164940" "00164073" "1" "01764" "01764" "2010-03-10 18:02:36" "" "" "SEQ" "DNA" "" "" "0000164941" "00164074" "1" "01764" "01764" "2010-03-10 18:02:36" "" "" "SEQ" "DNA" "" "" "0000164942" "00164075" "1" "01764" "01764" "2010-03-10 18:02:36" "" "" "SEQ" "DNA" "" "" "0000164943" "00164076" "1" "01764" "01764" "2010-03-10 18:02:36" "" "" "SEQ" "DNA" "" "" "0000164944" "00164077" "1" "01764" "01764" "2010-03-10 18:02:36" "" "" "SEQ" "DNA" "" "" "0000164945" "00164078" "1" "01764" "01764" "2010-03-10 18:02:36" "" "" "SEQ" "DNA" "" "" "0000164946" "00164079" "1" "01764" "01764" "2010-03-10 18:02:36" "" "" "SEQ" "DNA" "" "" "0000164947" "00164080" "1" "01764" "01764" "2010-03-10 18:02:36" "" "" "SEQ" "DNA" "" "" "0000164948" "00164081" "1" "01764" "01764" "2010-03-10 18:02:36" "" "" "SEQ" "DNA" "" "" "0000164949" "00164082" "1" "01764" "01764" "2010-03-10 18:02:36" "" "" "SEQ" "DNA" "" "" "0000164950" "00164083" "1" "01764" "01764" "2010-03-10 18:02:36" "" "" "SEQ" "DNA" "" "" "0000164951" "00164084" "1" "01764" "01764" "2010-03-10 18:02:36" "" "" "SEQ" "DNA" "" "" "0000164952" "00164085" "1" "01764" "01764" "2010-03-10 18:02:36" "" "" "SEQ" "DNA" "" "" "0000164953" "00164086" "1" "01764" "01764" "2010-03-10 18:02:36" "" "" "SEQ" "DNA" "" "" "0000164954" "00164087" "1" "01764" "01764" "2010-03-10 18:02:36" "" "" "SEQ" "DNA" "" "" "0000164955" "00164088" "1" "01764" "01764" "2010-03-10 18:02:36" "" "" "SEQ" "DNA" "" "" "0000164956" "00164089" "1" "01764" "01764" "2010-03-10 18:02:36" "" "" "SEQ" "DNA" "" "" "0000165929" "00165057" "1" "02515" "02515" "2018-06-21 14:25:17" "" "" "SEQ" "DNA" "" "" "0000165930" "00165058" "1" "02515" "02515" "2018-06-21 10:41:13" "" "" "SEQ" "DNA" "" "" "0000165931" "00165059" "1" "02515" "02515" "2018-06-21 10:41:13" "" "" "SEQ" "DNA" "" "" "0000165933" "00165061" "1" "02515" "02515" "2018-06-21 10:41:13" "" "" "SEQ" "DNA" "" "" "0000165934" "00165062" "1" "02515" "02515" "2018-06-21 10:41:13" "" "" "SEQ" "DNA" "" "" "0000165935" "00165063" "1" "02515" "02515" "2018-06-21 10:41:13" "" "" "SEQ" "DNA" "" "" "0000165936" "00165064" "1" "02515" "02515" "2018-06-21 10:41:13" "" "" "SEQ" "DNA" "" "" "0000165937" "00165065" "1" "02515" "02515" "2018-06-21 10:41:13" "" "" "SEQ" "DNA" "" "" "0000165938" "00165066" "1" "02515" "02515" "2018-06-21 10:41:13" "" "" "SEQ" "DNA" "" "" "0000165939" "00165067" "1" "02515" "02515" "2018-06-21 10:41:13" "" "" "SEQ" "DNA" "" "" "0000165940" "00165068" "1" "02515" "02515" "2018-06-21 10:41:13" "" "" "SEQ" "DNA" "" "" "0000165941" "00165069" "1" "02515" "02515" "2018-06-21 10:41:13" "" "" "SEQ" "DNA" "" "" "0000165942" "00165070" "1" "02515" "02515" "2018-06-21 10:41:13" "" "" "SEQ" "DNA" "" "" "0000165943" "00165071" "1" "02515" "02515" "2018-06-21 10:41:13" "" "" "SEQ" "DNA" "" "" "0000165944" "00165072" "1" "02515" "02515" "2018-06-21 10:41:13" "" "" "SEQ" "DNA" "" "" "0000165945" "00165073" "1" "02515" "02515" "2018-06-21 10:41:13" "" "" "SEQ" "DNA" "" "" "0000165946" "00165074" "1" "02515" "02515" "2018-06-21 10:41:13" "" "" "SEQ" "DNA" "" "" "0000165947" "00165075" "1" "02515" "02515" "2018-06-21 10:41:13" "" "" "SEQ" "DNA" "" "" "0000165948" "00165076" "1" "02515" "02515" "2018-06-21 10:41:13" "" "" "SEQ" "DNA" "" "" "0000165949" "00165077" "1" "02515" "02515" "2018-06-21 10:41:13" "" "" "SEQ" "DNA" "" "" "0000166571" "00165692" "1" "02515" "00008" "2018-07-11 16:54:03" "" "" "SEQ" "DNA" "blood" "" "0000166572" "00165693" "1" "02515" "00008" "2018-07-11 16:54:03" "" "" "SEQ" "DNA" "blood" "" "0000166573" "00165694" "1" "02515" "00008" "2018-07-11 16:54:03" "" "" "SEQ" "DNA" "blood" "" "0000171734" "00170852" "1" "02515" "02515" "2018-07-26 15:37:00" "" "" "SEQ" "DNA" "" "" "0000171735" "00170853" "1" "02515" "02515" "2018-07-26 15:53:36" "" "" "SEQ" "DNA" "" "" "0000171736" "00170854" "1" "02515" "02515" "2018-07-26 16:10:15" "" "" "SEQ" "DNA" "" "" "0000171740" "00170857" "1" "02515" "02515" "2018-07-27 09:50:07" "" "" "SEQ" "DNA" "" "" "0000174617" "00173726" "1" "02515" "02515" "2018-07-30 15:30:35" "00006" "2018-07-30 16:42:27" "SEQ" "DNA" "" "" "0000174618" "00173727" "1" "02515" "02515" "2018-07-30 15:55:44" "00006" "2018-07-31 09:56:54" "SEQ" "DNA" "" "" "0000290529" "00289359" "1" "03613" "03613" "2020-03-05 11:39:52" "" "" "PCR;RT-PCR;SEQ" "DNA;RNA" "blood" "" "0000290530" "00289360" "1" "03613" "03613" "2020-03-05 12:03:51" "" "" "PCR;RT-PCRq;SEQ" "DNA;RNA" "blood, skin" "" "0000290532" "00289361" "1" "03613" "03613" "2020-03-05 13:27:34" "" "" "PCR;RT-PCR;SEQ" "DNA;RNA" "blood" "" "0000290533" "00289362" "1" "03613" "03613" "2020-03-05 13:49:08" "" "" "PCR;RT-PCR;SEQ" "DNA;RNA" "blood" "" "0000290534" "00289363" "1" "03613" "03613" "2020-03-05 14:01:19" "" "" "PCR;RT-PCR;SEQ" "DNA;RNA" "blood" "" "0000290611" "00289443" "1" "03613" "03613" "2020-03-11 10:47:34" "" "" "PCR;RT-PCR;SEQ" "DNA;RNA" "blood" "" "0000290612" "00289444" "1" "03613" "03613" "2020-03-11 11:08:13" "" "" "PCR;SEQ" "DNA" "blood" "" "0000290613" "00289445" "1" "03613" "03613" "2020-03-11 11:23:47" "" "" "PCR;SEQ" "DNA" "blood" "" "0000290614" "00289446" "1" "03613" "03613" "2020-03-11 11:46:56" "" "" "PCR;RT-PCR;SEQ" "DNA;RNA" "blood" "" "0000290615" "00289447" "1" "03613" "03613" "2020-03-11 12:18:38" "" "" "PCR;RT-PCR;SEQ" "DNA;RNA" "blood" "" "0000290616" "00289448" "1" "03613" "03613" "2020-03-11 14:05:33" "" "" "PCR;RT-PCR;SEQ" "DNA;RNA" "blood" "" "0000290617" "00289449" "1" "03613" "03613" "2020-03-11 14:19:04" "" "" "PCR;RT-PCR;SEQ" "DNA;RNA" "blood" "" "0000290618" "00289450" "1" "03613" "03613" "2020-03-11 14:59:40" "" "" "PCR;RT-PCR;SEQ" "DNA;RNA" "blood" "" "0000296675" "00295507" "1" "03613" "03613" "2020-03-12 12:30:54" "" "" "PCR;RT-PCR;SEQ" "DNA;RNA" "blood" "" "0000296676" "00295508" "1" "03613" "03613" "2020-03-12 12:43:57" "" "" "PCR;SEQ" "DNA" "blood" "" "0000312250" "00311098" "1" "02515" "02515" "2020-09-18 13:02:04" "" "" "SEQ-NG-I" "DNA" "BLOOD" "" "0000364729" "00363501" "1" "01164" "01164" "2021-04-28 11:56:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000402524" "00401280" "1" "00006" "00006" "2022-01-30 16:32:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000420295" "00418997" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420296" "00418998" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420297" "00418999" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420298" "00419000" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420299" "00419001" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420300" "00419002" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420301" "00419003" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420302" "00419004" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420303" "00419005" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420304" "00419006" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420305" "00419007" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420306" "00419008" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420307" "00419009" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420308" "00419010" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420309" "00419011" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420310" "00419012" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420311" "00419013" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420312" "00419014" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420313" "00419015" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420314" "00419016" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420315" "00419017" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420316" "00419018" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420317" "00419019" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420320" "00419022" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420321" "00419023" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420322" "00419024" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420323" "00419025" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420324" "00419026" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420325" "00419027" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420326" "00419028" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420327" "00419029" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420328" "00419030" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420329" "00419031" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420330" "00419032" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420331" "00419033" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420332" "00419034" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420333" "00419035" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420334" "00419036" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420335" "00419037" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420336" "00419038" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420337" "00419039" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420338" "00419040" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420339" "00419041" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420340" "00419042" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420341" "00419043" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420342" "00419044" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420343" "00419045" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420344" "00419046" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420345" "00419047" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420346" "00419048" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420347" "00419049" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420348" "00419050" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420349" "00419051" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420350" "00419052" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420351" "00419053" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420352" "00419054" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420353" "00419055" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420354" "00419056" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420355" "00419057" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420356" "00419058" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420357" "00419059" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420358" "00419060" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420359" "00419061" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420360" "00419062" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420361" "00419063" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420362" "00419064" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420508" "00419020" "1" "00006" "00006" "2022-10-17 19:23:47" "" "" "SEQ" "DNA" "" "" "0000420509" "00419021" "1" "00006" "00006" "2022-10-17 19:27:19" "" "" "SEQ" "DNA" "" "" "0000439878" "00438396" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000462697" "00461065" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "fibroblasts" "mRNA splicing analysis on tissue" "0000466161" "00464523" "1" "03544" "03544" "2025-03-21 09:56:44" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 169 "{{screeningid}}" "{{geneid}}" "0000017909" "KRIT1" "0000154172" "KRIT1" "0000154173" "KRIT1" "0000154174" "KRIT1" "0000154175" "KRIT1" "0000164939" "KRIT1" "0000164940" "KRIT1" "0000164941" "KRIT1" "0000164942" "KRIT1" "0000164943" "KRIT1" "0000164944" "KRIT1" "0000164945" "KRIT1" "0000164946" "KRIT1" "0000164947" "KRIT1" "0000164948" "KRIT1" "0000164949" "KRIT1" "0000164950" "KRIT1" "0000164951" "KRIT1" "0000164952" "KRIT1" "0000164953" "KRIT1" "0000164954" "KRIT1" "0000164955" "KRIT1" "0000164956" "KRIT1" "0000165929" "KRIT1" "0000165930" "KRIT1" "0000165931" "KRIT1" "0000165933" "KRIT1" "0000165934" "KRIT1" "0000165935" "KRIT1" "0000165936" "KRIT1" "0000165937" "KRIT1" "0000165938" "KRIT1" "0000165939" "KRIT1" "0000165940" "KRIT1" "0000165941" "KRIT1" "0000165942" "KRIT1" "0000165943" "KRIT1" "0000165944" "KRIT1" "0000165945" "KRIT1" "0000165946" "KRIT1" "0000165947" "KRIT1" "0000165948" "KRIT1" "0000165949" "KRIT1" "0000166571" "KRIT1" "0000166572" "KRIT1" "0000166573" "KRIT1" "0000171734" "KRIT1" "0000171735" "KRIT1" "0000171736" "KRIT1" "0000171740" "KRIT1" "0000174617" "KRIT1" "0000174618" "KRIT1" "0000290529" "CCM2" "0000290529" "KRIT1" "0000290529" "PDCD10" "0000290530" "CCM2" "0000290530" "KRIT1" "0000290530" "PDCD10" "0000290532" "CCM2" "0000290532" "KRIT1" "0000290532" "PDCD10" "0000290533" "CCM2" "0000290533" "KRIT1" "0000290533" "PDCD10" "0000290534" "CCM2" "0000290534" "KRIT1" "0000290534" "PDCD10" "0000290611" "CCM2" "0000290611" "KRIT1" "0000290611" "PDCD10" "0000290612" "CCM2" "0000290612" "KRIT1" "0000290612" "PDCD10" "0000290613" "CCM2" "0000290613" "KRIT1" "0000290613" "PDCD10" "0000290614" "CCM2" "0000290614" "KRIT1" "0000290614" "PDCD10" "0000290615" "CCM2" "0000290615" "KRIT1" "0000290615" "PDCD10" "0000290616" "CCM2" "0000290616" "KRIT1" "0000290616" "PDCD10" "0000290617" "CCM2" "0000290617" "KRIT1" "0000290617" "PDCD10" "0000290618" "CCM2" "0000290618" "KRIT1" "0000290618" "PDCD10" "0000296675" "CCM2" "0000296675" "KRIT1" "0000296675" "PDCD10" "0000296676" "CCM2" "0000296676" "KRIT1" "0000296676" "PDCD10" "0000312250" "KRIT1" "0000364729" "KRIT1" "0000402524" "KRIT1" "0000420295" "KRIT1" "0000420296" "KRIT1" "0000420297" "KRIT1" "0000420298" "KRIT1" "0000420299" "KRIT1" "0000420300" "KRIT1" "0000420301" "KRIT1" "0000420302" "KRIT1" "0000420303" "KRIT1" "0000420304" "KRIT1" "0000420305" "KRIT1" "0000420306" "KRIT1" "0000420307" "KRIT1" "0000420308" "KRIT1" "0000420309" "KRIT1" "0000420310" "KRIT1" "0000420311" "KRIT1" "0000420312" "KRIT1" "0000420313" "KRIT1" "0000420314" "KRIT1" "0000420315" "KRIT1" "0000420316" "KRIT1" "0000420317" "KRIT1" "0000420320" "KRIT1" "0000420321" "KRIT1" "0000420322" "KRIT1" "0000420323" "KRIT1" "0000420324" "KRIT1" "0000420325" "KRIT1" "0000420326" "KRIT1" "0000420327" "KRIT1" "0000420328" "KRIT1" "0000420329" "KRIT1" "0000420330" "KRIT1" "0000420331" "KRIT1" "0000420332" "KRIT1" "0000420333" "KRIT1" "0000420334" "KRIT1" "0000420335" "KRIT1" "0000420336" "KRIT1" "0000420337" "KRIT1" "0000420338" "KRIT1" "0000420339" "KRIT1" "0000420340" "KRIT1" "0000420341" "KRIT1" "0000420342" "KRIT1" "0000420343" "KRIT1" "0000420344" "KRIT1" "0000420345" "KRIT1" "0000420346" "KRIT1" "0000420347" "KRIT1" "0000420348" "KRIT1" "0000420349" "KRIT1" "0000420350" "KRIT1" "0000420351" "KRIT1" "0000420352" "KRIT1" "0000420353" "KRIT1" "0000420354" "KRIT1" "0000420355" "KRIT1" "0000420356" "KRIT1" "0000420357" "KRIT1" "0000420358" "KRIT1" "0000420359" "KRIT1" "0000420360" "KRIT1" "0000420361" "KRIT1" "0000420362" "KRIT1" "0000420508" "KRIT1" "0000420509" "KRIT1" "0000462697" "KRIT1" ## 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 = 252 "{{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}}" "0000038359" "0" "90" "7" "91873315" "91875212" "" "0" "00748" "KRIT1_000020" "g.(91871452_91873315)_(91875212_?)del" "" "{PMID:Mondejar 2014:24466005}" "" "" "" "Germline" "?" "" "0" "" "" "" "" "pathogenic" "" "0000246564" "0" "10" "7" "91855043" "91855043" "subst" "0.00247957" "02330" "KRIT1_000052" "g.91855043A>C" "" "" "" "KRIT1(NM_001013406.1):c.1101T>G (p.(Ile367Met)), KRIT1(NM_194455.1):c.1245T>G (p.I415M), KRIT1(NM_194456.1):c.1245T>G (p.I415M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92225729A>C" "" "benign" "" "0000251731" "0" "30" "7" "91855043" "91855043" "subst" "0.00247957" "02326" "KRIT1_000052" "g.91855043A>C" "" "" "" "KRIT1(NM_001013406.1):c.1101T>G (p.(Ile367Met)), KRIT1(NM_194455.1):c.1245T>G (p.I415M), KRIT1(NM_194456.1):c.1245T>G (p.I415M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92225729A>C" "" "likely benign" "" "0000252600" "0" "90" "7" "91852169" "91852169" "del" "0" "02326" "KRIT1_000044" "g.91852169del" "" "" "" "KRIT1(NM_194456.1):c.1378delT (p.Y460Ifs*35)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92222855del" "" "pathogenic" "" "0000253820" "0" "10" "7" "91871519" "91871519" "del" "0" "01943" "KRIT1_000076" "g.91871519del" "" "" "" "KRIT1(NM_004912.4):c.-2-61delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92242205del" "" "benign" "" "0000255527" "0" "90" "7" "91855110" "91855110" "subst" "0" "01943" "KRIT1_000053" "g.91855110A>C" "" "" "" "KRIT1(NM_004912.4):c.1178T>G (p.L393*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92225796A>C" "" "pathogenic" "" "0000255664" "0" "90" "7" "91843957" "91843957" "subst" "0" "01943" "KRIT1_000037" "g.91843957A>T" "" "" "" "KRIT1(NM_004912.4):c.1698T>A (p.Y566*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92214643A>T" "" "pathogenic" "" "0000255668" "0" "90" "7" "91842629" "91842629" "subst" "0" "01943" "KRIT1_000030" "g.91842629A>C" "" "" "" "KRIT1(NM_004912.4):c.1905T>G (p.Y635*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92213315A>C" "" "pathogenic" "" "0000255669" "0" "90" "7" "91842557" "91842557" "subst" "0" "01943" "KRIT1_000028" "g.91842557A>C" "" "" "" "KRIT1(NM_004912.4):c.1977T>G (p.Y659*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92213243A>C" "" "pathogenic" "" "0000255689" "0" "90" "7" "91830748" "91830748" "subst" "0" "01943" "KRIT1_000024" "g.91830748A>C" "" "" "" "KRIT1(NM_004912.4):c.2026-11T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92201434A>C" "" "pathogenic" "" "0000255690" "0" "90" "7" "91843306" "91843306" "subst" "0" "01943" "KRIT1_000013" "g.91843306A>T" "" "" "" "KRIT1(NM_004912.4):c.1731-13T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92213992A>T" "" "pathogenic" "" "0000256218" "0" "50" "7" "91865757" "91865757" "subst" "0" "01943" "KRIT1_000072" "g.91865757A>C" "" "" "" "KRIT1(NM_004912.4):c.455T>G (p.L152R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92236443A>C" "" "VUS" "" "0000278624" "0" "10" "7" "91855891" "91855891" "subst" "0.00204375" "02330" "KRIT1_000058" "g.91855891T>C" "" "" "" "KRIT1(NM_001013406.1):c.951A>G (p.(Gly317=)), KRIT1(NM_004912.4):c.1095A>G (p.G365=), KRIT1(NM_194455.1):c.1095A>G (p.G365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92226577T>C" "" "benign" "" "0000278625" "0" "10" "7" "91855846" "91855846" "subst" "0.00147655" "02330" "KRIT1_000056" "g.91855846C>T" "" "" "" "KRIT1(NM_001013406.1):c.996G>A (p.(Thr332=)), KRIT1(NM_194455.1):c.1140G>A (p.T380=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92226532C>T" "" "benign" "" "0000278626" "0" "10" "7" "91842554" "91842554" "subst" "0.126111" "02330" "KRIT1_000027" "g.91842554T>C" "" "" "" "KRIT1(NM_194455.1):c.1980A>G (p.V660=), KRIT1(NM_194456.1):c.1980A>G (p.V660=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92213240T>C" "" "benign" "" "0000278627" "0" "30" "7" "91830719" "91830719" "subst" "0.000565137" "02330" "KRIT1_000023" "g.91830719T>G" "" "" "" "KRIT1(NM_004912.4):c.2044A>C (p.K682Q), KRIT1(NM_194455.1):c.2044A>C (p.K682Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92201405T>G" "" "likely benign" "" "0000278628" "0" "30" "7" "91871373" "91871373" "subst" "0.00104452" "02330" "KRIT1_000075" "g.91871373C>T" "" "" "" "KRIT1(NM_001013406.1):c.77G>A (p.(Arg26Gln)), KRIT1(NM_004912.4):c.77G>A (p.R26Q), KRIT1(NM_194455.1):c.77G>A (p.R26Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92242059C>T" "" "likely benign" "" "0000285851" "0" "90" "7" "91852280" "91852280" "subst" "0" "02326" "KRIT1_000050" "g.91852280G>A" "" "" "" "KRIT1(NM_194456.1):c.1267C>T (p.R423*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92222966G>A" "" "pathogenic" "" "0000285852" "0" "90" "7" "91852190" "91852191" "del" "0" "02326" "KRIT1_000045" "g.91852190_91852191del" "" "" "" "KRIT1(NM_194456.1):c.1362_1363delTC (p.Q455Rfs*24)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92222876_92222877del" "" "pathogenic" "" "0000285853" "0" "90" "7" "91870373" "91870373" "subst" "4.06144E-6" "02326" "KRIT1_000074" "g.91870373G>A" "" "" "" "KRIT1(NM_004912.4):c.196C>T (p.Q66*), KRIT1(NM_194456.1):c.196C>T (p.Q66*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92241059G>A" "" "pathogenic" "" "0000285854" "0" "10" "7" "91842554" "91842554" "subst" "0.126111" "02326" "KRIT1_000027" "g.91842554T>C" "" "" "" "KRIT1(NM_194455.1):c.1980A>G (p.V660=), KRIT1(NM_194456.1):c.1980A>G (p.V660=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92213240T>C" "" "benign" "" "0000285855" "0" "90" "7" "91830644" "91830645" "del" "0" "02326" "KRIT1_000022" "g.91830644_91830645del" "" "" "" "KRIT1(NM_004912.4):c.2119_2120delAG (p.S707Lfs*26), KRIT1(NM_194456.1):c.2119_2120delAG (p.S707Lfs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92201330_92201331del" "" "pathogenic" "" "0000285856" "0" "90" "7" "91864739" "91864739" "subst" "0" "02326" "KRIT1_000067" "g.91864739G>C" "" "" "" "KRIT1(NM_194456.1):c.707C>G (p.S236*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92235425G>C" "" "pathogenic" "" "0000285857" "0" "90" "7" "91863895" "91863895" "del" "0" "02326" "KRIT1_000064" "g.91863895del" "" "" "" "KRIT1(NM_194456.1):c.859delG (p.V287*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92234581del" "" "pathogenic" "" "0000285858" "0" "50" "7" "91863805" "91863805" "subst" "0" "02326" "KRIT1_000062" "g.91863805T>C" "" "" "" "KRIT1(NM_194456.1):c.947A>G (p.Q316R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92234491T>C" "" "VUS" "" "0000285859" "0" "90" "7" "91863784" "91863785" "del" "0" "02326" "KRIT1_000061" "g.91863784_91863785del" "" "" "" "KRIT1(NM_194456.1):c.967_968delGC (p.A323Tfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92234470_92234471del" "" "pathogenic" "" "0000290506" "0" "90" "7" "91855912" "91855913" "del" "0" "01943" "KRIT1_000060" "g.91855912_91855913del" "" "" "" "KRIT1(NM_004912.4):c.1075_1076delCT (p.L359Sfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92226598_92226599del" "" "pathogenic" "" "0000290507" "0" "90" "7" "91855896" "91855896" "subst" "0" "01943" "KRIT1_000059" "g.91855896C>A" "" "" "" "KRIT1(NM_004912.4):c.1090G>T (p.G364*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92226582C>A" "" "pathogenic" "" "0000290508" "0" "10" "7" "91855891" "91855891" "subst" "0.00204375" "01943" "KRIT1_000058" "g.91855891T>C" "" "" "" "KRIT1(NM_001013406.1):c.951A>G (p.(Gly317=)), KRIT1(NM_004912.4):c.1095A>G (p.G365=), KRIT1(NM_194455.1):c.1095A>G (p.G365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92226577T>C" "" "benign" "" "0000290509" "0" "90" "7" "91855880" "91855880" "del" "0" "01943" "KRIT1_000057" "g.91855880del" "" "" "" "KRIT1(NM_004912.4):c.1108delA (p.I370*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92226566del" "" "pathogenic" "" "0000290510" "0" "90" "7" "91855839" "91855839" "subst" "0" "01943" "KRIT1_000005" "g.91855839C>T" "" "" "" "KRIT1(NM_004912.4):c.1146+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92226525C>T" "" "pathogenic" "" "0000290511" "0" "90" "7" "91855123" "91855123" "del" "0" "01943" "KRIT1_000054" "g.91855123del" "" "" "" "KRIT1(NM_004912.4):c.1166delG (p.G389Efs*5), KRIT1(NM_194456.1):c.1166delG (p.G389Efs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92225809del" "" "pathogenic" "" "0000290512" "0" "90" "7" "91852294" "91852296" "del" "0" "01943" "KRIT1_000051" "g.91852294_91852296del" "" "" "" "KRIT1(NM_004912.4):c.1255-1_1256delGTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92222980_92222982del" "" "pathogenic" "" "0000290513" "0" "90" "7" "91852277" "91852292" "del" "0" "01943" "KRIT1_000049" "g.91852277_91852292del" "" "" "" "KRIT1(NM_004912.4):c.1258_1273delGAAAAAGTTCGAATAT (p.E420Tfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92222963_92222978del" "" "pathogenic" "" "0000290514" "0" "90" "7" "91852262" "91852262" "del" "0" "01943" "KRIT1_000048" "g.91852262del" "" "" "" "KRIT1(NM_004912.4):c.1287delG (p.S430Hfs*7), KRIT1(NM_194456.1):c.1287delG (p.S430Hfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92222948del" "" "pathogenic" "" "0000290515" "0" "90" "7" "91852220" "91852220" "del" "0" "01943" "KRIT1_000047" "g.91852220del" "" "" "" "KRIT1(NM_004912.4):c.1327delA (p.T443Qfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92222906del" "" "pathogenic" "" "0000290516" "0" "90" "7" "91852188" "91852191" "del" "0" "01943" "KRIT1_000046" "g.91852188_91852191del" "" "" "" "KRIT1(NM_004912.4):c.1360_1363delTCTC (p.S454Kfs*40)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92222874_92222877del" "" "pathogenic" "" "0000290517" "0" "90" "7" "91851368" "91851368" "subst" "0" "01943" "KRIT1_000043" "g.91851368C>G" "" "" "" "KRIT1(NM_004912.4):c.1412-1G>C, KRIT1(NM_194456.1):c.1412-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92222054C>G" "" "pathogenic" "" "0000290518" "0" "90" "7" "91851319" "91851319" "del" "0" "01943" "KRIT1_000042" "g.91851319del" "" "" "" "KRIT1(NM_004912.4):c.1461delG (p.W487Cfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92222005del" "" "pathogenic" "" "0000290519" "0" "90" "7" "91851281" "91851281" "subst" "4.06458E-6" "01943" "KRIT1_000041" "g.91851281G>A" "" "" "" "KRIT1(NM_004912.4):c.1498C>T (p.Q500*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92221967G>A" "" "pathogenic" "" "0000290521" "0" "90" "7" "91851251" "91851255" "del" "0" "01943" "KRIT1_000039" "g.91851251_91851255del" "" "" "" "KRIT1(NM_004912.4):c.1524_1528delAAGAA (p.R510Cfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92221937_92221941del" "" "pathogenic" "" "0000290522" "0" "90" "7" "91851215" "91851215" "subst" "4.07276E-6" "01943" "KRIT1_000038" "g.91851215C>T" "" "" "" "KRIT1(NM_004912.4):c.1563+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92221901C>T" "" "pathogenic" "" "0000290523" "0" "90" "7" "91843955" "91843956" "del" "0" "01943" "KRIT1_000036" "g.91843955_91843956del" "" "" "" "KRIT1(NM_004912.4):c.1702_1703delAG (p.S568*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92214641_92214642del" "" "pathogenic" "" "0000290524" "0" "90" "7" "91843205" "91843205" "subst" "0" "01943" "KRIT1_000034" "g.91843205C>T" "" "" "" "KRIT1(NM_004912.4):c.1818+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92213891C>T" "" "pathogenic" "" "0000290525" "0" "90" "7" "91842705" "91842706" "delins" "0" "01943" "KRIT1_000033" "g.91842705_91842706delinsA" "" "" "" "KRIT1(NM_004912.4):c.1828_1829delACinsT (p.T610*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92213391_92213392delinsA" "" "pathogenic" "" "0000290526" "0" "90" "7" "91842670" "91842670" "subst" "0" "01943" "KRIT1_000032" "g.91842670G>A" "" "" "" "KRIT1(NM_004912.4):c.1864C>T (p.Q622*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92213356G>A" "" "pathogenic" "" "0000290527" "0" "90" "7" "91842644" "91842644" "subst" "0" "01943" "KRIT1_000016" "g.91842644C>T" "" "" "" "KRIT1(NM_004912.4):c.1890G>A (p.W630*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92213330C>T" "" "pathogenic" "" "0000290528" "0" "90" "7" "91842603" "91842604" "del" "0" "01943" "KRIT1_000029" "g.91842603_91842604del" "" "" "" "KRIT1(NM_004912.4):c.1932_1933delAT (p.F645Yfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92213289_92213290del" "" "pathogenic" "" "0000290529" "0" "90" "7" "91870373" "91870373" "subst" "4.06144E-6" "01943" "KRIT1_000074" "g.91870373G>A" "" "" "" "KRIT1(NM_004912.4):c.196C>T (p.Q66*), KRIT1(NM_194456.1):c.196C>T (p.Q66*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92241059G>A" "" "pathogenic" "" "0000290530" "0" "90" "7" "91842553" "91842553" "subst" "0" "01943" "KRIT1_000026" "g.91842553C>A" "" "" "" "KRIT1(NM_004912.4):c.1981G>T (p.G661*), KRIT1(NM_194456.1):c.1981G>T (p.(Gly661Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92213239C>A" "" "pathogenic" "" "0000290531" "0" "50" "7" "91842532" "91842532" "subst" "1.63039E-5" "01943" "KRIT1_000025" "g.91842532G>A" "" "" "" "KRIT1(NM_004912.4):c.2002C>T (p.H668Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92213218G>A" "" "VUS" "" "0000290532" "0" "90" "7" "91830644" "91830645" "del" "0" "01943" "KRIT1_000022" "g.91830644_91830645del" "" "" "" "KRIT1(NM_004912.4):c.2119_2120delAG (p.S707Lfs*26), KRIT1(NM_194456.1):c.2119_2120delAG (p.S707Lfs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92201330_92201331del" "" "pathogenic" "" "0000290533" "0" "90" "7" "91830632" "91830633" "del" "0" "01943" "KRIT1_000021" "g.91830632_91830633del" "" "" "" "KRIT1(NM_004912.4):c.2131_2132delCA (p.H711Yfs*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92201318_92201319del" "" "pathogenic" "" "0000290534" "0" "90" "7" "91865794" "91865794" "subst" "4.06607E-6" "01943" "KRIT1_000073" "g.91865794G>A" "" "" "" "KRIT1(NM_004912.4):c.418C>T (p.R140*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92236480G>A" "" "pathogenic" "" "0000290535" "0" "90" "7" "91864911" "91864911" "subst" "4.0627E-6" "01943" "KRIT1_000002" "g.91864911G>A" "" "" "" "KRIT1(NM_004912.4):c.535C>T (p.R179*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92235597G>A" "" "pathogenic" "" "0000290536" "0" "90" "7" "91864908" "91864908" "del" "0" "01943" "KRIT1_000070" "g.91864908del" "" "" "" "KRIT1(NM_004912.4):c.539delC (p.P180Lfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92235594del" "" "pathogenic" "" "0000290537" "0" "50" "7" "91864905" "91864907" "del" "0" "01943" "KRIT1_000069" "g.91864905_91864907del" "" "" "" "KRIT1(NM_004912.4):c.541_543delTCT (p.S181del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92235591_92235593del" "" "VUS" "" "0000290538" "0" "90" "7" "91864747" "91864747" "del" "0" "01943" "KRIT1_000068" "g.91864747del" "" "" "" "KRIT1(NM_004912.4):c.699delG (p.L233Ffs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92235433del" "" "pathogenic" "" "0000290539" "0" "50" "7" "91864733" "91864735" "del" "0" "01943" "KRIT1_000066" "g.91864733_91864735del" "" "" "" "KRIT1(NM_004912.4):c.713_715delTTC (p.L238del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92235419_92235421del" "" "VUS" "" "0000290540" "0" "90" "7" "91864220" "91864223" "del" "0" "01943" "KRIT1_000065" "g.91864220_91864223del" "" "" "" "KRIT1(NM_004912.4):c.747_750delAAAT (p.N250Hfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92234906_92234909del" "" "pathogenic" "" "0000290541" "0" "10" "7" "91871373" "91871373" "subst" "0.00104452" "01943" "KRIT1_000075" "g.91871373C>T" "" "" "" "KRIT1(NM_001013406.1):c.77G>A (p.(Arg26Gln)), KRIT1(NM_004912.4):c.77G>A (p.R26Q), KRIT1(NM_194455.1):c.77G>A (p.R26Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92242059C>T" "" "benign" "" "0000290542" "0" "90" "7" "91863850" "91863850" "subst" "0" "01943" "KRIT1_000063" "g.91863850G>C" "" "" "" "KRIT1(NM_004912.4):c.902C>G (p.S301*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92234536G>C" "" "pathogenic" "" "0000353653" "0" "90" "7" "91843252" "91843253" "del" "0" "02390" "KRIT1_000077" "g.91843252_91843253del" "" "" "" "1771_1772delAA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.92213938_92213939del" "" "pathogenic" "" "0000353654" "0" "90" "7" "91855985" "91855985" "del" "0" "02390" "KRIT1_000078" "g.91855985del" "" "" "" "1002delT" "" "Germline" "" "" "0" "" "" "g.92226671del" "" "pathogenic" "" "0000353655" "0" "90" "7" "91855890" "91855890" "del" "0" "02390" "KRIT1_000079" "g.91855890del" "" "" "" "1097delG" "" "Germline" "" "" "0" "" "" "g.92226576del" "" "pathogenic" "" "0000353656" "0" "90" "7" "91842688" "91842690" "del" "0" "02390" "KRIT1_000080" "g.91842688_91842690delinsAG" "" "" "" "1844_1846delGTAinsCT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.92213374_92213376delinsAG" "" "pathogenic" "" "0000368555" "0" "99" "7" "91867068" "91867068" "subst" "0" "01764" "KRIT1_000001" "g.91867068G>A" "" "" "" "g.13347C>T" "" "Germline" "" "" "0" "" "" "g.92237754G>A" "" "pathogenic" "" "0000368556" "0" "99" "7" "91864911" "91864911" "subst" "4.0627E-6" "01764" "KRIT1_000002" "g.91864911G>A" "" "" "" "g.15504C>T" "" "Germline" "" "" "0" "" "" "g.92235597G>A" "" "pathogenic" "" "0000368557" "0" "99" "7" "91863818" "91863818" "dup" "0" "01764" "KRIT1_000003" "g.91863818dup" "" "" "" "g.16600dupT" "" "Germline" "" "" "0" "" "" "g.92234504dup" "" "pathogenic" "" "0000368558" "0" "99" "7" "91863784" "91863784" "dup" "0" "01764" "KRIT1_000004" "g.91863784dup" "" "" "" "g.16631dupC" "" "Germline" "" "" "0" "" "" "g.92234470dup" "" "pathogenic" "" "0000368559" "0" "99" "7" "91855839" "91855839" "subst" "0" "01764" "KRIT1_000005" "g.91855839C>T" "" "" "" "g.24576G>A" "" "Germline" "" "" "0" "" "" "g.92226525C>T" "" "pathogenic" "" "0000368560" "0" "99" "7" "91855091" "91855094" "del" "0" "01764" "KRIT1_000006" "g.91855091_91855094del" "" "" "" "g.25328_25331del" "" "Germline" "" "" "0" "" "" "g.92225777_92225780del" "" "pathogenic" "" "0000368561" "0" "99" "7" "91852293" "91852293" "subst" "0" "01764" "KRIT1_000007" "g.91852293C>T" "" "" "" "g.28122G>A" "" "Germline" "" "" "0" "" "" "g.92222979C>T" "" "pathogenic" "" "0000368562" "0" "99" "7" "91852293" "91852293" "subst" "0" "01764" "KRIT1_000008" "g.91852293C>A" "" "" "" "g.28122G>T" "" "Germline" "" "" "0" "" "" "g.92222979C>A" "" "pathogenic" "" "0000368563" "0" "99" "7" "91851280" "91851280" "del" "0" "01764" "KRIT1_000009" "g.91851280del" "" "" "" "g.29137delA" "" "Germline" "" "" "0" "" "" "g.92221966del" "" "pathogenic" "" "0000368564" "0" "99" "7" "91851262" "91851262" "dup" "0" "01764" "KRIT1_000010" "g.91851262dup" "" "" "" "g.29157dupT" "" "Germline" "" "" "0" "" "" "g.92221948dup" "" "pathogenic" "" "0000368565" "0" "99" "7" "91843950" "91843950" "dup" "0" "01764" "KRIT1_000011" "g.91843950dup" "" "" "" "g.36470dupA" "" "Germline" "" "" "0" "" "" "g.92214636dup" "" "pathogenic" "" "0000368566" "0" "99" "7" "91843939" "91843942" "del" "0" "01764" "KRIT1_000012" "g.91843939_91843942del" "" "" "" "g.36477_36480del" "" "Germline" "" "" "0" "" "" "g.92214625_92214628del" "" "pathogenic" "" "0000368567" "0" "99" "7" "91843306" "91843306" "subst" "0" "01764" "KRIT1_000013" "g.91843306A>T" "" "" "" "g.37109T>A" "" "Germline" "" "" "0" "" "" "g.92213992A>T" "" "pathogenic" "" "0000368568" "0" "99" "7" "91843295" "91843295" "subst" "0" "01764" "KRIT1_000014" "g.91843295T>C" "" "" "" "g.37120A>G" "" "Germline" "" "" "0" "" "" "g.92213981T>C" "" "pathogenic" "" "0000368569" "0" "99" "7" "91843295" "91843295" "subst" "0" "01764" "KRIT1_000014" "g.91843295T>C" "" "" "" "g.37120A>G" "" "Germline" "" "" "0" "" "" "g.92213981T>C" "" "pathogenic" "" "0000368570" "0" "99" "7" "91843239" "91843242" "dup" "0" "01764" "KRIT1_000015" "g.91843239_91843242dup" "" "" "" "g.37173_37176dup" "" "Germline" "" "" "0" "" "" "g.92213925_92213928dup" "" "pathogenic" "" "0000368571" "0" "99" "7" "91842644" "91842644" "subst" "0" "01764" "KRIT1_000016" "g.91842644C>T" "" "" "" "g.37771G>A" "" "Germline" "" "" "0" "" "" "g.92213330C>T" "" "pathogenic" "" "0000368572" "0" "99" "7" "91830623" "91830623" "subst" "0" "01764" "KRIT1_000017" "g.91830623G>A" "" "" "" "g.49792C>T" "" "Germline" "" "" "0" "" "" "g.92201309G>A" "" "pathogenic" "" "0000369756" "0" "70" "7" "91870363" "91870363" "subst" "0" "02515" "KRIT1_000085" "g.91870363A>T" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.92241049A>T" "" "likely pathogenic" "" "0000369757" "0" "70" "7" "91870375" "91870376" "del" "0" "02515" "KRIT1_000082" "g.91870375_91870376del" "" "" "" "193_194delAC" "" "Germline" "yes" "" "0" "" "" "g.92241061_92241062del" "" "likely pathogenic" "" "0000369758" "0" "70" "7" "91870375" "91870376" "del" "0" "02515" "KRIT1_000082" "g.91870375_91870376del" "" "" "" "196_197delCA" "" "Germline" "yes" "" "0" "" "" "g.92241061_92241062del" "" "likely pathogenic" "" "0000369760" "0" "70" "7" "91864800" "91864801" "del" "0" "02515" "KRIT1_000084" "g.91864800_91864801del" "" "" "" "646_647delAA" "" "Germline" "yes" "" "0" "" "" "g.92235486_92235487del" "" "likely pathogenic" "" "0000369761" "0" "70" "7" "91864743" "91864743" "subst" "0" "02515" "KRIT1_000090" "g.91864743C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.92235429C>T" "" "likely pathogenic" "" "0000369762" "0" "70" "7" "91864221" "91864221" "del" "0" "02515" "KRIT1_000089" "g.91864221del" "" "" "" "746delT" "" "Germline" "yes" "" "0" "" "" "g.92234907del" "" "likely pathogenic" "" "0000369763" "0" "70" "7" "91864204" "91864204" "del" "0" "02515" "KRIT1_000083" "g.91864204del" "" "" "" "763delC" "" "Germline" "yes" "" "0" "" "" "g.92234890del" "" "likely pathogenic" "" "0000369764" "0" "90" "7" "91864142" "91864142" "del" "0" "02515" "KRIT1_000088" "g.91864142del" "" "" "" "825delG" "" "Germline" "yes" "" "0" "" "" "g.92234828del" "" "pathogenic" "" "0000369765" "0" "70" "7" "91863786" "91863786" "subst" "0" "02515" "KRIT1_000087" "g.91863786C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.92234472C>T" "" "likely pathogenic" "" "0000369766" "0" "90" "7" "91855938" "91855938" "subst" "0" "02515" "KRIT1_000095" "g.91855938G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.92226624G>A" "" "pathogenic" "" "0000369767" "0" "70" "7" "91855839" "91855997" "del" "0" "02515" "KRIT1_000086" "g.(91855142_91855839)_(91855997_91863762)del" "" "" "" "990_1146del" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000369768" "0" "70" "7" "91855033" "91855142" "del" "0" "02515" "KRIT1_000097" "g.(91852293_91855033)_(91855142_91855839)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000369769" "0" "70" "7" "91852190" "91852191" "del" "0" "02515" "KRIT1_000045" "g.91852190_91852191del" "" "" "" "1356_1357delTC" "" "Germline" "yes" "" "0" "" "" "g.92222876_92222877del" "" "likely pathogenic" "" "0000369770" "0" "70" "7" "91851268" "91851274" "del" "0" "02515" "KRIT1_000094" "g.91851268_91851274del" "" "" "" "1505_1511delAAACACC" "" "Germline" "yes" "" "0" "" "" "g.92221954_92221960del" "" "likely pathogenic" "" "0000369771" "0" "70" "7" "91851262" "91851262" "subst" "0" "02515" "KRIT1_000093" "g.91851262A>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.92221948A>C" "" "likely pathogenic" "" "0000369772" "0" "70" "7" "91851251" "91851255" "del" "0" "02515" "KRIT1_000039" "g.91851251_91851255del" "" "" "" "1524_1528delAAGAA" "" "Germline" "yes" "" "0" "" "" "g.92221937_92221941del" "" "likely pathogenic" "" "0000369773" "0" "70" "7" "91844069" "91844078" "del" "0" "02515" "KRIT1_000092" "g.91844069_91844078del" "" "" "" "1579_15880delGCTATTCTTA" "" "Germline" "yes" "" "0" "" "" "g.92214755_92214764del" "" "likely pathogenic" "" "0000369774" "0" "70" "7" "91843205" "91843294" "del" "0" "02515" "KRIT1_000096" "g.(91842716_91843205)_(91843294_91843924)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000369775" "0" "70" "7" "91842554" "91842555" "dup" "0" "02515" "KRIT1_000098" "g.91842554_91842555dup" "" "" "" "1980_1981insTA" "" "Germline" "yes" "" "0" "" "" "g.92213240_92213241dup" "" "likely pathogenic" "" "0000369776" "0" "70" "7" "91830734" "91830735" "ins" "0" "02515" "KRIT1_000091" "g.91830734_91830735insT" "" "" "" "2029insA" "" "Germline" "yes" "" "0" "" "" "g.92201420_92201421insT" "" "likely pathogenic" "" "0000372280" "0" "70" "7" "91864142" "91864142" "del" "0" "02515" "KRIT1_000088" "g.91864142del" "" "{PMID:Nardella 2018:30161288}" "" "825delG" "" "Germline" "" "" "0" "" "" "g.92234828del" "" "likely pathogenic" "" "0000372281" "0" "70" "7" "91863786" "91863786" "subst" "0" "02515" "KRIT1_000087" "g.91863786C>T" "" "{PMID:Nardella 2018:30161288}" "" "" "" "Germline" "" "" "0" "" "" "g.92234472C>T" "" "likely pathogenic" "" "0000372282" "0" "70" "7" "91855839" "91855997" "del" "0" "02515" "KRIT1_000099" "g.(91855142_91855839)_(91855997_91863762)del" "" "{PMID:Nardella 2018:30161288}" "" "990_1146del, del ex12" "" "Germline" "" "" "0" "" "" "g.(92225828_92226525)_(92226683_92234448)del" "" "likely pathogenic (dominant)" "" "0000392088" "0" "70" "7" "91864743" "91864743" "subst" "0" "02515" "KRIT1_000090" "g.91864743C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.92235429C>T" "" "likely pathogenic" "" "0000392090" "0" "70" "7" "91851251" "91851255" "del" "0" "02515" "KRIT1_000039" "g.91851251_91851255del" "" "" "" "1524_1528delAAGAA" "" "Germline" "?" "" "0" "" "" "g.92221937_92221941del" "" "likely pathogenic" "" "0000392091" "0" "70" "7" "91851251" "91851255" "del" "0" "02515" "KRIT1_000039" "g.91851251_91851255del" "" "" "" "1524_1528delAAGAA" "" "Germline" "yes" "" "0" "" "" "g.92221937_92221941del" "" "likely pathogenic" "" "0000392095" "0" "70" "7" "91851251" "91851255" "del" "0" "02515" "KRIT1_000039" "g.91851251_91851255del" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.92221937_92221941del" "" "likely pathogenic" "" "0000394430" "0" "70" "7" "91864743" "91864743" "subst" "0" "02515" "KRIT1_000090" "g.91864743C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.92235429C>T" "" "likely pathogenic" "" "0000394434" "0" "70" "7" "91851251" "91851255" "del" "0" "02515" "KRIT1_000039" "g.91851251_91851255del" "" "" "" "1524_1528delAAGAA" "" "Germline" "" "" "0" "" "" "g.92221937_92221941del" "" "likely pathogenic" "" "0000532977" "0" "90" "7" "91830713" "91830713" "del" "0" "02326" "KRIT1_000100" "g.91830713del" "" "" "" "KRIT1(NM_004912.4):c.2051delG (p.G684Vfs*23), KRIT1(NM_194456.1):c.2051delG (p.G684Vfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92201399del" "" "pathogenic" "" "0000532978" "0" "90" "7" "91830721" "91830721" "del" "0" "02326" "KRIT1_000101" "g.91830721del" "" "" "" "KRIT1(NM_004912.4):c.2043delT (p.K682Sfs*25), KRIT1(NM_194456.1):c.2043delT (p.K682Sfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92201407del" "" "pathogenic" "" "0000532979" "0" "90" "7" "91842612" "91842612" "del" "0" "01943" "KRIT1_000102" "g.91842612del" "" "" "" "KRIT1(NM_004912.4):c.1922delC (p.T641Kfs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92213298del" "" "pathogenic" "" "0000532980" "0" "30" "7" "91843272" "91843272" "subst" "0.00015036" "02330" "KRIT1_000103" "g.91843272G>A" "" "" "" "KRIT1(NM_194455.1):c.1752C>T (p.I584=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92213958G>A" "" "likely benign" "" "0000532981" "0" "30" "7" "91843966" "91843966" "subst" "7.72571E-5" "02326" "KRIT1_000104" "g.91843966A>G" "" "" "" "KRIT1(NM_194456.1):c.1689T>C (p.Y563=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92214652A>G" "" "likely benign" "" "0000532982" "0" "90" "7" "91851262" "91851262" "dup" "0" "01943" "KRIT1_000010" "g.91851262dup" "" "" "" "KRIT1(NM_004912.4):c.1521dupT (p.L508Sfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92221948dup" "" "pathogenic" "" "0000532983" "0" "90" "7" "91851368" "91851368" "subst" "0" "02326" "KRIT1_000043" "g.91851368C>G" "" "" "" "KRIT1(NM_004912.4):c.1412-1G>C, KRIT1(NM_194456.1):c.1412-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92222054C>G" "" "pathogenic" "" "0000532984" "0" "90" "7" "91852294" "91852294" "subst" "0" "01943" "KRIT1_000105" "g.91852294T>C" "" "" "" "KRIT1(NM_004912.4):c.1255-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92222980T>C" "" "pathogenic" "" "0000532985" "0" "90" "7" "91855123" "91855123" "del" "0" "02326" "KRIT1_000054" "g.91855123del" "" "" "" "KRIT1(NM_004912.4):c.1166delG (p.G389Efs*5), KRIT1(NM_194456.1):c.1166delG (p.G389Efs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92225809del" "" "pathogenic" "" "0000532986" "0" "90" "7" "91855996" "91855996" "subst" "0" "02326" "KRIT1_000106" "g.91855996C>T" "" "" "" "KRIT1(NM_194456.1):c.990G>A (p.W330*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92226682C>T" "" "pathogenic" "" "0000532987" "0" "90" "7" "91863784" "91863784" "dup" "0" "02326" "KRIT1_000004" "g.91863784dup" "" "" "" "KRIT1(NM_194456.1):c.968dupC (p.P324Tfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92234470dup" "" "pathogenic" "" "0000532988" "0" "50" "7" "91864713" "91864713" "subst" "0" "01943" "KRIT1_000107" "g.91864713T>C" "" "" "" "KRIT1(NM_004912.4):c.729+4A>G, KRIT1(NM_194456.1):c.729+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92235399T>C" "" "VUS" "" "0000532989" "0" "90" "7" "91864713" "91864713" "subst" "0" "02326" "KRIT1_000107" "g.91864713T>C" "" "" "" "KRIT1(NM_004912.4):c.729+4A>G, KRIT1(NM_194456.1):c.729+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92235399T>C" "" "pathogenic" "" "0000532990" "0" "30" "7" "91874914" "91874914" "subst" "0" "02326" "ANKIB1_000001" "g.91874914C>A" "" "" "" "KRIT1(NM_194456.1):c.-589-5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92245600C>A" "" "likely benign" "" "0000611293" "0" "50" "7" "91830704" "91830704" "subst" "0" "02325" "KRIT1_000108" "g.91830704T>G" "" "" "" "KRIT1(NM_004912.4):c.2059A>C (p.M687L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92201390T>G" "" "VUS" "" "0000611294" "0" "90" "7" "91852262" "91852262" "del" "0" "02326" "KRIT1_000048" "g.91852262del" "" "" "" "KRIT1(NM_004912.4):c.1287delG (p.S430Hfs*7), KRIT1(NM_194456.1):c.1287delG (p.S430Hfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92222948del" "" "pathogenic" "" "0000611295" "0" "90" "7" "91855926" "91855926" "subst" "0" "02330" "KRIT1_000110" "g.91855926G>A" "" "" "" "KRIT1(NM_194455.1):c.1060C>T (p.Q354*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92226612G>A" "" "pathogenic" "" "0000611296" "0" "30" "7" "91864936" "91864936" "subst" "0.000129998" "02330" "KRIT1_000111" "g.91864936T>C" "" "" "" "KRIT1(NM_194455.1):c.510A>G (p.Q170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92235622T>C" "" "likely benign" "" "0000621944" "0" "30" "7" "91843242" "91843242" "subst" "0.000284486" "01943" "KRIT1_000109" "g.91843242T>C" "" "" "" "KRIT1(NM_004912.4):c.1782A>G (p.A594=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92213928T>C" "" "likely benign" "" "0000647212" "11" "70" "7" "91864743" "91864743" "subst" "0" "03613" "KRIT1_000090" "g.91864743C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.92235429C>T" "" "pathogenic (dominant)" "ACMG" "0000647213" "0" "70" "7" "91864743" "91864743" "subst" "0" "03613" "KRIT1_000090" "g.91864743C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.92235429C>T" "" "pathogenic (dominant)" "ACMG" "0000647215" "21" "70" "7" "91843923" "91843925" "del" "0" "03613" "KRIT1_000112" "g.91843923_91843925del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.92214609_92214611del" "" "pathogenic (dominant)" "ACMG" "0000647216" "21" "70" "7" "91843923" "91843925" "del" "0" "03613" "KRIT1_000112" "g.91843923_91843925del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.92214609_92214611del" "" "pathogenic (dominant)" "ACMG" "0000647217" "20" "70" "7" "91843923" "91843925" "del" "0" "03613" "KRIT1_000112" "g.91843923_91843925del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.92214609_92214611del" "" "pathogenic (dominant)" "ACMG" "0000647300" "0" "70" "7" "91863786" "91863786" "subst" "0" "03613" "KRIT1_000087" "g.91863786G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.92234472C>T" "" "pathogenic" "ACMG" "0000647301" "0" "70" "7" "91863786" "91863786" "subst" "0" "03613" "KRIT1_000087" "g.91863786G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.92234472C>T" "" "pathogenic (dominant)" "ACMG" "0000647302" "0" "70" "7" "91863786" "91863786" "subst" "0" "03613" "KRIT1_000087" "g.91863786G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.92234472C>T" "" "pathogenic (dominant)" "ACMG" "0000647303" "0" "70" "7" "91843991" "91843991" "subst" "0" "03613" "KRIT1_000113" "g.91843991G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.92214677G>A" "" "pathogenic (dominant)" "ACMG" "0000647304" "20" "70" "7" "91843991" "91843991" "subst" "0" "03613" "KRIT1_000113" "g.91843991G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.92214677G>A" "" "pathogenic (dominant)" "ACMG" "0000647305" "11" "70" "7" "91852293" "91852293" "subst" "0" "03613" "KRIT1_000114" "g.91852293C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.92222979C>T" "" "pathogenic (dominant)" "ACMG" "0000647306" "0" "70" "7" "91843923" "91843925" "del" "0" "03613" "KRIT1_000112" "g.91843923_91843925del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.92214609_92214611del" "" "pathogenic (dominant)" "ACMG" "0000647307" "0" "70" "7" "91852294" "91852296" "del" "0" "03613" "KRIT1_000051" "g.91852294_91852296del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.92222980_92222982del" "" "pathogenic (dominant)" "ACMG" "0000653368" "0" "70" "7" "91855091" "91855094" "del" "0" "03613" "KRIT1_000115" "g.91855091_91855094del" "" "" "" "1197_1200delCAAA" "" "De novo" "" "" "0" "" "" "g.92225777_92225780del" "" "pathogenic" "ACMG" "0000653369" "0" "70" "7" "91866950" "91866950" "subst" "8.2147E-6" "03613" "KRIT1_000116" "g.91866950T>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.92237636T>C" "" "pathogenic" "ACMG" "0000655904" "0" "90" "7" "91830721" "91830721" "del" "0" "01943" "KRIT1_000101" "g.91830721del" "" "" "" "KRIT1(NM_004912.4):c.2043delT (p.K682Sfs*25), KRIT1(NM_194456.1):c.2043delT (p.K682Sfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92201407del" "" "pathogenic" "" "0000655905" "0" "50" "7" "91867091" "91867091" "subst" "0" "02326" "KRIT1_000117" "g.91867091G>C" "" "" "" "KRIT1(NM_194456.1):c.263-18C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92237777G>C" "" "VUS" "" "0000693806" "0" "70" "7" "91855148" "91855148" "subst" "0" "02515" "KRIT1_000118" "g.91855148A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.92225834A>C" "" "pathogenic" "ACMG" "0000765632" "0" "70" "7" "91855076" "91855076" "subst" "0" "01164" "KRIT1_000119" "g.91855076C>T" "" "PMID: 12404106" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000803280" "0" "50" "7" "91867056" "91867056" "subst" "0" "01943" "KRIT1_000120" "g.91867056T>C" "" "" "" "KRIT1(NM_004912.4):c.280A>G (p.M94V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000836744" "1" "90" "7" "91870174" "91870175" "del" "0" "00006" "KRIT1_000121" "g.91870174_91870175del" "" "{PMID:Riant 2014:24251678}" "" "262+132_262+133delAA" "" "Germline" "yes" "" "0" "" "" "g.92240860_92240861del" "" "pathogenic (dominant)" "" "0000880631" "11" "90" "7" "91870421" "91870424" "del" "0" "00006" "KRIT1_000138" "g.91870421_91870424del" "" "{PMID:Nardella 2018:30161288}" "" "151_154delAAAG" "" "Germline" "" "" "0" "" "" "g.92241107_92241110del" "" "pathogenic" "" "0000880632" "11" "90" "7" "91870421" "91870424" "del" "0" "00006" "KRIT1_000138" "g.91870421_91870424del" "" "{PMID:Nardella 2018:30161288}" "" "151_154delAAAG" "" "Germline" "" "" "0" "" "" "g.92241107_92241110del" "" "pathogenic" "" "0000880633" "11" "90" "7" "91870421" "91870424" "del" "0" "00006" "KRIT1_000138" "g.91870421_91870424del" "" "{PMID:Nardella 2018:30161288}" "" "151_154delAAAG" "" "Germline" "" "" "0" "" "" "g.92241107_92241110del" "" "pathogenic" "" "0000880634" "11" "90" "7" "91870375" "91870376" "del" "0" "00006" "KRIT1_000082" "g.91870375_91870376del" "" "{PMID:Nardella 2018:30161288}" "" "193_194delAC" "" "Germline" "" "" "0" "" "" "g.92241061_92241062del" "" "pathogenic" "" "0000880635" "11" "90" "7" "91870375" "91870376" "del" "0" "00006" "KRIT1_000082" "g.91870375_91870376del" "" "{PMID:Nardella 2018:30161288}" "" "196_197delCA" "" "Germline" "" "" "0" "" "" "g.92241061_92241062del" "" "pathogenic" "" "0000880636" "11" "90" "7" "91870363" "91870363" "subst" "0" "00006" "KRIT1_000085" "g.91870363A>T" "" "{PMID:Nardella 2018:30161288}" "" "" "" "Germline" "" "" "0" "" "" "g.92241049A>T" "" "pathogenic" "" "0000880637" "11" "90" "7" "91864800" "91864801" "del" "0" "00006" "KRIT1_000084" "g.91864800_91864801del" "" "{PMID:Nardella 2018:30161288}" "" "646_647delAA" "" "Germline" "" "" "0" "" "" "g.92235486_92235487del" "" "pathogenic" "" "0000880638" "0" "90" "7" "91864743" "91864743" "subst" "0" "00006" "KRIT1_000090" "g.91864743C>T" "" "{PMID:Nardella 2018:30161288}" "" "" "" "Germline" "" "" "0" "" "" "g.92235429C>T" "" "pathogenic" "" "0000880639" "0" "90" "7" "91864743" "91864743" "subst" "0" "00006" "KRIT1_000090" "g.91864743C>T" "" "{PMID:Nardella 2018:30161288}" "" "" "" "Germline" "" "" "0" "" "" "g.92235429C>T" "" "pathogenic" "" "0000880640" "0" "90" "7" "91864716" "91864716" "subst" "0" "00006" "KRIT1_000137" "g.91864716C>T" "" "{PMID:Nardella 2018:30161288}" "" "" "" "Germline" "" "" "0" "" "" "g.92235402C>T" "" "pathogenic" "" "0000880641" "11" "90" "7" "91864221" "91864221" "del" "0" "00006" "KRIT1_000089" "g.91864221del" "" "{PMID:Nardella 2018:30161288}" "" "746delT" "" "Germline" "" "" "0" "" "" "g.92234907del" "" "pathogenic" "" "0000880642" "0" "90" "7" "91864204" "91864204" "del" "0" "00006" "KRIT1_000083" "g.91864204del" "" "{PMID:Nardella 2018:30161288}" "" "763delC" "" "Germline" "" "" "0" "" "" "g.92234890del" "" "pathogenic" "" "0000880643" "0" "90" "7" "91863872" "91863872" "subst" "4.06171E-6" "00006" "KRIT1_000136" "g.91863872G>A" "" "{PMID:Nardella 2018:30161288}" "" "" "" "Germline" "" "" "0" "" "" "g.92234558G>A" "" "pathogenic" "" "0000880644" "0" "90" "7" "91863762" "91863907" "del" "0" "00006" "KRIT1_000135" "g.(91855997_91863762)_(91863907_91864121)del" "" "{PMID:Nardella 2018:30161288}" "" "846_989del, del ex11" "" "Germline" "" "" "0" "" "" "g.(92226683_92234448)_(92234593_92234807)del" "" "pathogenic" "" "0000880645" "21" "90" "7" "91863762" "91863907" "del" "0" "00006" "KRIT1_000135" "g.(91855997_91863762)_(91863907_91864121)del" "" "{PMID:Nardella 2018:30161288}" "" "846_989del, del ex11" "" "Germline" "" "" "0" "" "" "g.(92226683_92234448)_(92234593_92234807)del" "" "pathogenic" "" "0000880646" "21" "90" "7" "91863762" "91863907" "del" "0" "00006" "KRIT1_000135" "g.(91855997_91863762)_(91863907_91864121)del" "" "{PMID:Nardella 2018:30161288}" "" "846_989del, del ex11" "" "Germline" "" "" "0" "" "" "g.(92226683_92234448)_(92234593_92234807)del" "" "pathogenic" "" "0000880647" "21" "70" "7" "91855938" "91855938" "subst" "0" "00006" "KRIT1_000095" "g.91855938G>A" "" "{PMID:Nardella 2018:30161288}" "" "" "" "Germline" "" "" "0" "" "" "g.92226624G>A" "" "likely pathogenic" "" "0000880648" "0" "90" "7" "91855839" "91855997" "del" "0" "00006" "KRIT1_000099" "g.(91855142_91855839)_(91855997_91863762)del" "" "{PMID:Nardella 2018:30161288}" "" "990_1146del, del ex12" "" "Germline" "" "" "0" "" "" "g.(92225828_92226525)_(92226683_92234448)del" "" "pathogenic" "" "0000880649" "0" "90" "7" "91855839" "91855997" "del" "0" "00006" "KRIT1_000099" "g.(91855142_91855839)_(91855997_91863762)del" "" "{PMID:Nardella 2018:30161288}" "" "990_1146del, del ex12" "" "Germline" "" "" "0" "" "" "g.(92225828_92226525)_(92226683_92234448)del" "" "pathogenic" "" "0000880650" "0" "90" "7" "91855039" "91855042" "del" "0" "00006" "KRIT1_000134" "g.91855039_91855042del" "" "{PMID:Nardella 2018:30161288}" "" "1249_1252delAAAC" "" "Germline" "" "" "0" "" "" "g.92225725_92225728del" "" "pathogenic" "" "0000880651" "11" "90" "7" "91855039" "91855042" "del" "0" "00006" "KRIT1_000134" "g.91855039_91855042del" "" "{PMID:Nardella 2018:30161288}" "" "1249_1252delAAAC" "" "Germline" "" "" "0" "" "" "g.92225725_92225728del" "" "pathogenic" "" "0000880652" "0" "90" "7" "91855039" "91855042" "del" "0" "00006" "KRIT1_000134" "g.91855039_91855042del" "" "{PMID:Nardella 2018:30161288}" "" "1249_1252delAAAC" "" "Germline" "" "" "0" "" "" "g.92225725_92225728del" "" "pathogenic" "" "0000880653" "0" "90" "7" "91855033" "91855142" "del" "0" "00006" "KRIT1_000097" "g.(91852293_91855033)_(91855142_91855839)del" "" "{PMID:Nardella 2018:30161288}" "" "del ex13" "" "Germline" "" "" "0" "" "" "g.(92222979_92225719)_(92225828_92226525)del" "" "pathogenic" "" "0000880656" "0" "90" "7" "91852280" "91852280" "subst" "0" "00006" "KRIT1_000050" "g.91852280G>A" "" "{PMID:Nardella 2018:30161288}" "" "" "" "Germline" "" "" "0" "" "" "g.92222966G>A" "" "pathogenic" "" "0000880657" "11" "90" "7" "91852256" "91852257" "del" "0" "00006" "KRIT1_000133" "g.91852256_91852257del" "" "{PMID:Nardella 2018:30161288}" "" "1292_1293delAT" "" "Germline" "" "" "0" "" "" "g.92222942_92222943del" "" "pathogenic" "" "0000880658" "21" "90" "7" "91852190" "91852191" "del" "0" "00006" "KRIT1_000045" "g.91852190_91852191del" "" "{PMID:Nardella 2018:30161288}" "" "1356_1357delTC" "" "Germline" "" "" "0" "" "" "g.92222876_92222877del" "" "pathogenic" "" "0000880659" "0" "90" "7" "91852190" "91852191" "del" "0" "00006" "KRIT1_000045" "g.91852190_91852191del" "" "{PMID:Nardella 2018:30161288}" "" "1362_1363delTC" "" "Germline" "" "" "0" "" "" "g.92222876_92222877del" "" "pathogenic" "" "0000880660" "0" "90" "7" "91852190" "91852191" "del" "0" "00006" "KRIT1_000045" "g.91852190_91852191del" "" "{PMID:Nardella 2018:30161288}" "" "1362_1363delTC" "" "Germline" "" "" "0" "" "" "g.92222876_92222877del" "" "pathogenic" "" "0000880661" "21" "90" "7" "91852190" "91852191" "del" "0" "00006" "KRIT1_000045" "g.91852190_91852191del" "" "{PMID:Nardella 2018:30161288}" "" "1362_1363delTC" "" "Germline" "" "" "0" "" "" "g.92222876_92222877del" "" "pathogenic" "" "0000880662" "21" "90" "7" "91852190" "91852191" "del" "0" "00006" "KRIT1_000045" "g.91852190_91852191del" "" "{PMID:Nardella 2018:30161288}" "" "1362_1363delTC" "" "Germline" "" "" "0" "" "" "g.92222876_92222877del" "" "pathogenic" "" "0000880663" "21" "90" "7" "91852190" "91852191" "del" "0" "00006" "KRIT1_000045" "g.91852190_91852191del" "" "{PMID:Nardella 2018:30161288}" "" "1362_1363delTC" "" "Germline" "" "" "0" "" "" "g.92222876_92222877del" "" "pathogenic" "" "0000880664" "21" "90" "7" "91852190" "91852191" "del" "0" "00006" "KRIT1_000045" "g.91852190_91852191del" "" "{PMID:Nardella 2018:30161288}" "" "1362_1363delTC" "" "Germline" "" "" "0" "" "" "g.92222876_92222877del" "" "pathogenic" "" "0000880665" "21" "90" "7" "91852190" "91852191" "del" "0" "00006" "KRIT1_000045" "g.91852190_91852191del" "" "{PMID:Nardella 2018:30161288}" "" "1362_1363delTC" "" "Germline" "" "" "0" "" "" "g.92222876_92222877del" "" "pathogenic" "" "0000880666" "0" "90" "7" "91852190" "91852191" "del" "0" "00006" "KRIT1_000045" "g.91852190_91852191del" "" "{PMID:Nardella 2018:30161288}" "" "1362_1363delTC" "" "Germline" "" "" "0" "" "" "g.92222876_92222877del" "" "pathogenic" "" "0000880667" "0" "90" "7" "91852190" "91852191" "del" "0" "00006" "KRIT1_000045" "g.91852190_91852191del" "" "{PMID:Nardella 2018:30161288}" "" "1362_1363delTC" "" "Germline" "" "" "0" "" "" "g.92222876_92222877del" "" "pathogenic" "" "0000880668" "0" "90" "7" "91852190" "91852191" "del" "0" "00006" "KRIT1_000045" "g.91852190_91852191del" "" "{PMID:Nardella 2018:30161288}" "" "1362_1363delTC" "" "Germline" "" "" "0" "" "" "g.92222876_92222877del" "" "pathogenic" "" "0000880669" "21" "90" "7" "91852190" "91852191" "del" "0" "00006" "KRIT1_000045" "g.91852190_91852191del" "" "{PMID:Nardella 2018:30161288}" "" "1362_1363delTC" "" "Germline" "" "" "0" "" "" "g.92222876_92222877del" "" "pathogenic" "" "0000880670" "11" "90" "7" "91852190" "91852191" "del" "0" "00006" "KRIT1_000045" "g.91852190_91852191del" "" "{PMID:Nardella 2018:30161288}" "" "1362_1363delTC" "" "Germline" "" "" "0" "" "" "g.92222876_92222877del" "" "pathogenic" "" "0000880671" "21" "90" "7" "91852190" "91852191" "del" "0" "00006" "KRIT1_000045" "g.91852190_91852191del" "" "{PMID:Nardella 2018:30161288}" "" "1362_1363delTC" "" "Germline" "" "" "0" "" "" "g.92222876_92222877del" "" "pathogenic" "" "0000880672" "0" "90" "7" "91852184" "91852184" "subst" "4.06544E-6" "00006" "KRIT1_000132" "g.91852184G>A" "" "{PMID:Nardella 2018:30161288}" "" "" "" "Germline" "" "" "0" "" "" "g.92222870G>A" "" "pathogenic" "" "0000880673" "11" "90" "7" "91852184" "91852184" "subst" "4.06544E-6" "00006" "KRIT1_000132" "g.91852184G>A" "" "{PMID:Nardella 2018:30161288}" "" "" "" "Germline" "" "" "0" "" "" "g.92222870G>A" "" "pathogenic" "" "0000880674" "11" "90" "7" "91851335" "91851335" "subst" "0" "00006" "KRIT1_000131" "g.91851335G>A" "" "{PMID:Nardella 2018:30161288}" "" "" "" "Germline" "" "" "0" "" "" "g.92222021G>A" "" "pathogenic" "" "0000880675" "11" "90" "7" "91851268" "91851274" "del" "0" "00006" "KRIT1_000094" "g.91851268_91851274del" "" "{PMID:Nardella 2018:30161288}" "" "1505_1511delAAACACC" "" "Germline" "" "" "0" "" "" "g.92221954_92221960del" "" "pathogenic" "" "0000880676" "21" "90" "7" "91851262" "91851262" "subst" "0" "00006" "KRIT1_000093" "g.91851262A>C" "" "{PMID:Nardella 2018:30161288}" "" "" "" "Germline" "" "" "0" "" "" "g.92221948A>C" "" "pathogenic" "" "0000880677" "0" "90" "7" "91851251" "91851255" "del" "0" "00006" "KRIT1_000039" "g.91851251_91851255del" "" "{PMID:Nardella 2018:30161288}" "" "1524_1528delAAGAA" "" "Germline" "" "" "0" "" "" "g.92221937_92221941del" "" "pathogenic" "" "0000880678" "21" "90" "7" "91851251" "91851255" "del" "0" "00006" "KRIT1_000039" "g.91851251_91851255del" "" "{PMID:Nardella 2018:30161288}" "" "1524_1528delAAGAA" "" "Germline" "" "" "0" "" "" "g.92221937_92221941del" "" "pathogenic" "" "0000880679" "21" "90" "7" "91851251" "91851255" "del" "0" "00006" "KRIT1_000039" "g.91851251_91851255del" "" "{PMID:Nardella 2018:30161288}" "" "1524_1528delAAGAA" "" "Germline" "" "" "0" "" "" "g.92221937_92221941del" "" "pathogenic" "" "0000880680" "21" "90" "7" "91851251" "91851255" "del" "0" "00006" "KRIT1_000039" "g.91851251_91851255del" "" "{PMID:Nardella 2018:30161288}" "" "1524_1528delAAGAA" "" "Germline" "" "" "0" "" "" "g.92221937_92221941del" "" "pathogenic" "" "0000880681" "0" "90" "7" "91844069" "91844078" "del" "0" "00006" "KRIT1_000092" "g.91844069_91844078del" "" "{PMID:Nardella 2018:30161288}" "" "1579_1588delGCTATTCTTA" "" "Germline" "" "" "0" "" "" "g.92214755_92214764del" "" "pathogenic" "" "0000880682" "0" "90" "7" "91843967" "91843968" "del" "0" "00006" "KRIT1_000130" "g.91843967_91843968del" "" "{PMID:Nardella 2018:30161288}" "" "1688_1689delAT" "" "Germline" "" "" "0" "" "" "g.92214653_92214654del" "" "pathogenic" "" "0000880683" "0" "90" "7" "91842657" "91842657" "subst" "0" "00006" "KRIT1_000129" "g.91842657A>T" "" "{PMID:Nardella 2018:30161288}" "" "" "" "Germline" "" "" "0" "" "" "g.92213343A>T" "" "pathogenic" "" "0000880684" "21" "90" "7" "91842657" "91842657" "subst" "0" "00006" "KRIT1_000129" "g.91842657A>T" "" "{PMID:Nardella 2018:30161288}" "" "" "" "Germline" "" "" "0" "" "" "g.92213343A>T" "" "pathogenic" "" "0000880685" "0" "90" "7" "91842657" "91842657" "subst" "0" "00006" "KRIT1_000129" "g.91842657A>T" "" "{PMID:Nardella 2018:30161288}" "" "" "" "Germline" "" "" "0" "" "" "g.92213343A>T" "" "pathogenic" "" "0000880686" "0" "90" "7" "91842657" "91842657" "subst" "0" "00006" "KRIT1_000129" "g.91842657A>T" "" "{PMID:Nardella 2018:30161288}" "" "" "" "Germline" "" "" "0" "" "" "g.92213343A>T" "" "pathogenic" "" "0000880687" "0" "90" "7" "91843205" "91843294" "del" "0" "00006" "KRIT1_000096" "g.(91842716_91843205)_(91843294_91843924)del" "" "{PMID:Nardella 2018:30161288}" "" "del ex17" "" "Germline" "" "" "0" "" "" "g.(92213402_92213891)_92213980_92214610()del" "" "pathogenic" "" "0000880688" "11" "90" "7" "91842554" "91842555" "dup" "0" "00006" "KRIT1_000098" "g.91842554_91842555dup" "" "{PMID:Nardella 2018:30161288}" "" "1979_1980dupTA" "" "Germline" "" "" "0" "" "" "g.92213240_92213241dup" "" "pathogenic" "" "0000880689" "0" "90" "7" "91842516" "91842516" "dup" "0" "00006" "KRIT1_000128" "g.91842516dup" "" "{PMID:Nardella 2018:30161288}" "" "2020dupA" "" "Germline" "" "" "0" "" "" "g.92213202dup" "" "pathogenic" "" "0000880690" "0" "90" "7" "91830740" "91830740" "subst" "0" "00006" "KRIT1_000125" "g.91830740G>T" "" "{PMID:Nardella 2018:30161288}" "" "" "" "Germline" "" "" "0" "" "" "g.92201426G>T" "" "pathogenic" "" "0000880691" "11" "90" "7" "91830749" "91830749" "subst" "0" "00006" "KRIT1_000126" "g.91830749T>C" "" "{PMID:Nardella 2018:30161288}" "" "" "" "Germline" "" "" "0" "" "" "g.92201435T>C" "" "pathogenic" "" "0000880692" "0" "90" "7" "91842508" "91842508" "subst" "0" "00006" "KRIT1_000127" "g.91842508C>T" "" "{PMID:Nardella 2018:30161288}" "" "" "" "Germline" "" "" "0" "" "" "g.92213194C>T" "" "pathogenic" "" "0000880693" "0" "90" "7" "91830733" "91830734" "ins" "0" "00006" "KRIT1_000124" "g.91830733_91830734insT" "" "{PMID:Nardella 2018:30161288}" "" "" "" "Germline" "" "" "0" "" "" "g.92201419_92201420insT" "" "pathogenic" "" "0000880694" "0" "90" "7" "91830733" "91830734" "ins" "0" "00006" "KRIT1_000124" "g.91830733_91830734insT" "" "{PMID:Nardella 2018:30161288}" "" "" "" "Germline" "" "" "0" "" "" "g.92201419_92201420insT" "" "pathogenic" "" "0000880695" "0" "90" "7" "91830733" "91830734" "ins" "0" "00006" "KRIT1_000124" "g.91830733_91830734insT" "" "{PMID:Nardella 2018:30161288}" "" "" "" "Germline" "" "" "0" "" "" "g.92201419_92201420insT" "" "pathogenic" "" "0000880696" "0" "90" "7" "91830620" "91842716" "del" "0" "00006" "KRIT1_000123" "g.(91830119_91830620)_(91842716_91843205)del" "" "{PMID:Nardella 2018:30161288}" "" "del ex18-19" "" "Germline" "" "" "0" "" "" "g.(92200805_92201306)_(92213402_92213891)del" "" "pathogenic" "" "0000880697" "21" "90" "7" "91828283" "91875228" "del" "0" "00006" "KRIT1_000122" "g.(?_91828283)_(91875228_?)del" "" "{PMID:Nardella 2018:30161288}" "" "(?_-1)_(*1_?)del" "" "Germline" "" "" "0" "" "" "g.(?_92198969)_(92245914_?)del" "" "pathogenic" "" "0000880698" "0" "90" "7" "91828283" "91875228" "del" "0" "00006" "KRIT1_000122" "g.(?_91828283)_(91875228_?)del" "" "{PMID:Nardella 2018:30161288}" "" "(?_-1)_(*1_?)del" "" "Germline" "" "" "0" "" "" "g.(?_92198969)_(92245914_?)del" "" "pathogenic" "" "0000880864" "0" "90" "7" "91852294" "91852296" "del" "0" "00006" "KRIT1_000051" "g.91852294_91852296del" "" "{PMID:Nardella 2018:30161288}" "" "" "" "Germline" "" "" "0" "" "" "g.92222980_92222982del" "" "pathogenic" "" "0000880865" "11" "90" "7" "91852280" "91852280" "subst" "0" "00006" "KRIT1_000050" "g.91852280G>A" "" "{PMID:Nardella 2018:30161288}" "" "" "" "Germline" "" "" "0" "" "" "g.92222966G>A" "" "pathogenic" "" "0000888016" "0" "90" "7" "91870373" "91870373" "subst" "4.06144E-6" "02330" "KRIT1_000074" "g.91870373G>A" "" "" "" "KRIT1(NM_004912.4):c.196C>T (p.Q66*), KRIT1(NM_194456.1):c.196C>T (p.Q66*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888017" "0" "90" "7" "91870373" "91870373" "subst" "4.06144E-6" "02327" "KRIT1_000074" "g.91870373G>A" "" "" "" "KRIT1(NM_004912.4):c.196C>T (p.Q66*), KRIT1(NM_194456.1):c.196C>T (p.Q66*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888018" "0" "30" "7" "91875208" "91875208" "subst" "0" "02326" "ANKIB1_000004" "g.91875208C>A" "" "" "" "KRIT1(NM_194456.1):c.-590+12G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912817" "0" "30" "7" "91855891" "91855891" "subst" "0.00204375" "01804" "KRIT1_000058" "g.91855891T>C" "" "" "" "KRIT1(NM_001013406.1):c.951A>G (p.(Gly317=)), KRIT1(NM_004912.4):c.1095A>G (p.G365=), KRIT1(NM_194455.1):c.1095A>G (p.G365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924767" "0" "30" "7" "91830054" "91830054" "subst" "0.00023424" "01804" "KRIT1_000139" "g.91830054G>A" "" "" "" "KRIT1(NM_001013406.1):c.2063C>T (p.(Ser688Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924768" "0" "30" "7" "91830717" "91830717" "subst" "0.000227677" "01804" "KRIT1_000140" "g.91830717C>T" "" "" "" "KRIT1(NM_001013406.1):c.1902G>A (p.(Lys634=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924769" "0" "30" "7" "91855043" "91855043" "subst" "0.00247957" "01804" "KRIT1_000052" "g.91855043A>C" "" "" "" "KRIT1(NM_001013406.1):c.1101T>G (p.(Ile367Met)), KRIT1(NM_194455.1):c.1245T>G (p.I415M), KRIT1(NM_194456.1):c.1245T>G (p.I415M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924770" "0" "30" "7" "91855846" "91855846" "subst" "0.00147655" "01804" "KRIT1_000056" "g.91855846C>T" "" "" "" "KRIT1(NM_001013406.1):c.996G>A (p.(Thr332=)), KRIT1(NM_194455.1):c.1140G>A (p.T380=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924771" "0" "50" "7" "91864951" "91864951" "subst" "4.06355E-6" "02330" "KRIT1_000141" "g.91864951A>C" "" "" "" "KRIT1(NM_004912.4):c.495T>G (p.D165E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924772" "0" "90" "7" "91864962" "91864962" "subst" "0" "02326" "KRIT1_000142" "g.91864962T>C" "" "" "" "KRIT1(NM_194456.1):c.486-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000936007" "0" "90" "7" "91867076" "91867078" "dup" "0" "00006" "KRIT1_000143" "g.91867076_91867078dup" "" "{PMID:Chuan 2022:35571021}" "" "NM_004912.4:c.263-2_263-1insTTA" "ACMG PVS1,PS4" "Germline/De novo (untested)" "" "" "0" "" "" "g.92237762_92237764dup" "" "pathogenic (dominant)" "ACMG" "0000948957" "0" "90" "7" "91852280" "91852280" "subst" "0" "02327" "KRIT1_000050" "g.91852280G>A" "" "" "" "KRIT1(NM_194456.1):c.1267C>T (p.R423*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000948958" "0" "50" "7" "91855923" "91855923" "subst" "5.68708E-5" "02325" "KRIT1_000144" "g.91855923G>A" "" "" "" "KRIT1(NM_194456.1):c.1063C>T (p.L355F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948959" "0" "30" "7" "91856018" "91856021" "del" "0" "01804" "KRIT1_000145" "g.91856018_91856021del" "" "" "" "KRIT1(NM_001013406.1):c.846-14_846-11del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948960" "0" "30" "7" "91867034" "91867034" "subst" "0.000329649" "01804" "KRIT1_000146" "g.91867034C>A" "" "" "" "KRIT1(NM_001013406.1):c.302G>T (p.(Gly101Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964700" "0" "30" "7" "91863751" "91863751" "subst" "8.13352E-6" "01804" "KRIT1_000147" "g.91863751T>C" "" "" "" "KRIT1(NM_194456.1):c.989+12A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977880" "0" "30" "7" "91855832" "91855832" "subst" "0.00110237" "01804" "KRIT1_000148" "g.91855832T>A" "" "" "" "KRIT1(NM_194454.3):c.1146+8A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977881" "0" "30" "7" "91871458" "91871458" "subst" "0.000155101" "01804" "ANKIB1_000005" "g.91871458A>G" "" "" "" "KRIT1(NM_194454.3):c.-2-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996713" "0" "50" "7" "91842546" "91842546" "subst" "8.95547E-5" "01804" "KRIT1_000149" "g.91842546T>C" "" "" "" "KRIT1(NM_194454.1):c.1988A>G (p.(Asn663Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996714" "0" "30" "7" "91865826" "91865826" "subst" "1.22072E-5" "01804" "KRIT1_000150" "g.91865826C>T" "" "" "" "KRIT1(NM_194454.1):c.386G>A (p.(Cys129Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996715" "0" "50" "7" "91870435" "91870435" "subst" "0" "01804" "KRIT1_000151" "g.91870435T>C" "" "" "" "KRIT1(NM_194454.1):c.134A>G (p.(Gln45Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996716" "0" "50" "7" "91871391" "91871391" "subst" "0" "01804" "ANKIB1_000006" "g.91871391G>A" "" "" "" "KRIT1(NM_194454.1):c.59C>T (p.(Thr20Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014387" "0" "30" "7" "91830695" "91830695" "subst" "5.69092E-5" "01804" "KRIT1_000152" "g.91830695A>G" "" "" "" "KRIT1(NM_001013406.1):c.1924T>C (p.(Leu642=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014388" "0" "30" "7" "91864771" "91864771" "subst" "4.0623E-6" "01804" "KRIT1_000153" "g.91864771T>A" "" "" "" "KRIT1(NM_001013406.1):c.675A>T (p.(Ala225=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001022224" "0" "70" "7" "91867091" "91867091" "subst" "0" "04796" "KRIT1_000117" "g.91867091G>C" "" "" "" "" "effect on RNA inclusion of intron sequences" "Germline/De novo (untested)" "" "" "0" "" "" "g.92237777G>C" "" "likely pathogenic" "" "0001022229" "0" "50" "7" "91852133" "91852133" "subst" "0" "04796" "KRIT1_000154" "g.91852133T>A" "" "" "" "" "in vitro analysis 293T cells mini-gene exon trapping assay: effect on RNA exclusion of exon" "CLASSIFICATION record" "" "" "0" "" "" "g.92222819T>A" "" "VUS" "" "0001025437" "0" "90" "7" "91830713" "91830713" "del" "0" "02330" "KRIT1_000100" "g.91830713del" "" "" "" "KRIT1(NM_004912.4):c.2051delG (p.G684Vfs*23), KRIT1(NM_194456.1):c.2051delG (p.G684Vfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001025438" "0" "70" "7" "91842553" "91842553" "subst" "0" "01804" "KRIT1_000026" "g.91842553C>A" "" "" "" "KRIT1(NM_004912.4):c.1981G>T (p.G661*), KRIT1(NM_194456.1):c.1981G>T (p.(Gly661Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001025439" "0" "30" "7" "91871373" "91871373" "subst" "0.00104452" "01804" "KRIT1_000075" "g.91871373C>T" "" "" "" "KRIT1(NM_001013406.1):c.77G>A (p.(Arg26Gln)), KRIT1(NM_004912.4):c.77G>A (p.R26Q), KRIT1(NM_194455.1):c.77G>A (p.R26Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001030015" "0" "90" "7" "91864715" "91864715" "subst" "0" "03544" "KRIT1_000155" "g.91864715A>C" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.92235401A>C" "{CV:2842172}" "pathogenic" "ACMG" "0001036569" "0" "30" "7" "91855916" "91855916" "subst" "2.0311E-5" "01804" "KRIT1_000156" "g.91855916G>C" "" "" "" "KRIT1(NM_194454.3):c.1070C>G (p.(Ser357Cys))" "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 KRIT1 ## Count = 252 "{{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}}" "0000038359" "00025691" "90" "" "0" "" "0" "c.(?_-892_(-3+1_-2-1)del" "r.?" "p.?" "_1_3i" "0000246564" "00025691" "10" "1245" "0" "1245" "0" "c.1245T>G" "r.(?)" "p.(Ile415Met)" "" "0000251731" "00025691" "30" "1245" "0" "1245" "0" "c.1245T>G" "r.(?)" "p.(Ile415Met)" "" "0000252600" "00025691" "90" "1378" "0" "1378" "0" "c.1378del" "r.(?)" "p.(Tyr460IlefsTer35)" "" "0000253820" "00025691" "10" "-2" "-61" "-2" "-61" "c.-2-61del" "r.(=)" "p.(=)" "" "0000255527" "00025691" "90" "1178" "0" "1178" "0" "c.1178T>G" "r.(?)" "p.(Leu393Ter)" "" "0000255664" "00025691" "90" "1698" "0" "1698" "0" "c.1698T>A" "r.(?)" "p.(Tyr566Ter)" "" "0000255668" "00025691" "90" "1905" "0" "1905" "0" "c.1905T>G" "r.(?)" "p.(Tyr635Ter)" "" "0000255669" "00025691" "90" "1977" "0" "1977" "0" "c.1977T>G" "r.(?)" "p.(Tyr659Ter)" "" "0000255689" "00025691" "90" "2026" "-11" "2026" "-11" "c.2026-11T>G" "r.(=)" "p.(=)" "" "0000255690" "00025691" "90" "1731" "-13" "1731" "-13" "c.1731-13T>A" "r.(=)" "p.(=)" "" "0000256218" "00025691" "50" "455" "0" "455" "0" "c.455T>G" "r.(?)" "p.(Leu152Arg)" "" "0000278624" "00025691" "10" "1095" "0" "1095" "0" "c.1095A>G" "r.(?)" "p.(Gly365=)" "" "0000278625" "00025691" "10" "1140" "0" "1140" "0" "c.1140G>A" "r.(?)" "p.(Thr380=)" "" "0000278626" "00025691" "10" "1980" "0" "1980" "0" "c.1980A>G" "r.(?)" "p.(Val660=)" "" "0000278627" "00025691" "30" "2044" "0" "2044" "0" "c.2044A>C" "r.(?)" "p.(Lys682Gln)" "" "0000278628" "00025691" "30" "77" "0" "77" "0" "c.77G>A" "r.(?)" "p.(Arg26Gln)" "" "0000285851" "00025691" "90" "1267" "0" "1267" "0" "c.1267C>T" "r.(?)" "p.(Arg423Ter)" "" "0000285852" "00025691" "90" "1362" "0" "1363" "0" "c.1362_1363del" "r.(?)" "p.(Gln455ArgfsTer24)" "" "0000285853" "00025691" "90" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Gln66Ter)" "" "0000285854" "00025691" "10" "1980" "0" "1980" "0" "c.1980A>G" "r.(?)" "p.(Val660=)" "" "0000285855" "00025691" "90" "2119" "0" "2120" "0" "c.2119_2120del" "r.(?)" "p.(Ser707LeufsTer26)" "" "0000285856" "00025691" "90" "707" "0" "707" "0" "c.707C>G" "r.(?)" "p.(Ser236Ter)" "" "0000285857" "00025691" "90" "859" "0" "859" "0" "c.859del" "r.(?)" "p.(Val287Ter)" "" "0000285858" "00025691" "50" "947" "0" "947" "0" "c.947A>G" "r.(?)" "p.(Gln316Arg)" "" "0000285859" "00025691" "90" "967" "0" "968" "0" "c.967_968del" "r.(?)" "p.(Ala323ThrfsTer12)" "" "0000290506" "00025691" "90" "1075" "0" "1076" "0" "c.1075_1076del" "r.(?)" "p.(Leu359SerfsTer10)" "" "0000290507" "00025691" "90" "1090" "0" "1090" "0" "c.1090G>T" "r.(?)" "p.(Gly364Ter)" "" "0000290508" "00025691" "10" "1095" "0" "1095" "0" "c.1095A>G" "r.(?)" "p.(Gly365=)" "" "0000290509" "00025691" "90" "1108" "0" "1108" "0" "c.1108del" "r.(?)" "p.(Ile370Ter)" "" "0000290510" "00025691" "90" "1146" "1" "1146" "1" "c.1146+1G>A" "r.spl?" "p.?" "" "0000290511" "00025691" "90" "1166" "0" "1166" "0" "c.1166del" "r.(?)" "p.(Gly389GlufsTer5)" "" "0000290512" "00025691" "90" "1255" "-1" "1256" "0" "c.1255-1_1256del" "r.spl?" "p.?" "" "0000290513" "00025691" "90" "1258" "0" "1273" "0" "c.1258_1273del" "r.(?)" "p.(Glu420ThrfsTer12)" "" "0000290514" "00025691" "90" "1287" "0" "1287" "0" "c.1287del" "r.(?)" "p.(Ser430HisfsTer7)" "" "0000290515" "00025691" "90" "1327" "0" "1327" "0" "c.1327del" "r.(?)" "p.(Thr443GlnfsTer5)" "" "0000290516" "00025691" "90" "1360" "0" "1363" "0" "c.1360_1363del" "r.(?)" "p.(Ser454LysfsTer40)" "" "0000290517" "00025691" "90" "1412" "-1" "1412" "-1" "c.1412-1G>C" "r.spl?" "p.?" "" "0000290518" "00025691" "90" "1461" "0" "1461" "0" "c.1461del" "r.(?)" "p.(Trp487CysfsTer8)" "" "0000290519" "00025691" "90" "1498" "0" "1498" "0" "c.1498C>T" "r.(?)" "p.(Gln500Ter)" "" "0000290521" "00025691" "90" "1524" "0" "1528" "0" "c.1524_1528del" "r.(?)" "p.(Arg510CysfsTer8)" "" "0000290522" "00025691" "90" "1563" "1" "1563" "1" "c.1563+1G>A" "r.spl?" "p.?" "" "0000290523" "00025691" "90" "1702" "0" "1703" "0" "c.1702_1703del" "r.(?)" "p.(Ser568Ter)" "" "0000290524" "00025691" "90" "1818" "1" "1818" "1" "c.1818+1G>A" "r.spl?" "p.?" "" "0000290525" "00025691" "90" "1828" "0" "1829" "0" "c.1828_1829delinsT" "r.(?)" "p.(Thr610Ter)" "" "0000290526" "00025691" "90" "1864" "0" "1864" "0" "c.1864C>T" "r.(?)" "p.(Gln622Ter)" "" "0000290527" "00025691" "90" "1890" "0" "1890" "0" "c.1890G>A" "r.(?)" "p.(Trp630Ter)" "" "0000290528" "00025691" "90" "1932" "0" "1933" "0" "c.1932_1933del" "r.(?)" "p.(Phe645TyrfsTer9)" "" "0000290529" "00025691" "90" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Gln66Ter)" "" "0000290530" "00025691" "90" "1981" "0" "1981" "0" "c.1981G>T" "r.(?)" "p.(Gly661Ter)" "" "0000290531" "00025691" "50" "2002" "0" "2002" "0" "c.2002C>T" "r.(?)" "p.(His668Tyr)" "" "0000290532" "00025691" "90" "2119" "0" "2120" "0" "c.2119_2120del" "r.(?)" "p.(Ser707LeufsTer26)" "" "0000290533" "00025691" "90" "2131" "0" "2132" "0" "c.2131_2132del" "r.(?)" "p.(His711TyrfsTer22)" "" "0000290534" "00025691" "90" "418" "0" "418" "0" "c.418C>T" "r.(?)" "p.(Arg140Ter)" "" "0000290535" "00025691" "90" "535" "0" "535" "0" "c.535C>T" "r.(?)" "p.(Arg179Ter)" "" "0000290536" "00025691" "90" "539" "0" "539" "0" "c.539del" "r.(?)" "p.(Pro180LeufsTer7)" "" "0000290537" "00025691" "50" "541" "0" "543" "0" "c.541_543del" "r.(?)" "p.(Ser181del)" "" "0000290538" "00025691" "90" "699" "0" "699" "0" "c.699del" "r.(?)" "p.(Leu233PhefsTer12)" "" "0000290539" "00025691" "50" "713" "0" "715" "0" "c.713_715del" "r.(?)" "p.(Leu238del)" "" "0000290540" "00025691" "90" "747" "0" "750" "0" "c.747_750del" "r.(?)" "p.(Asn250HisfsTer5)" "" "0000290541" "00025691" "10" "77" "0" "77" "0" "c.77G>A" "r.(?)" "p.(Arg26Gln)" "" "0000290542" "00025691" "90" "902" "0" "902" "0" "c.902C>G" "r.(?)" "p.(Ser301Ter)" "" "0000353653" "00025691" "90" "1773" "0" "1774" "0" "c.1773_1774del" "r.(?)" "p.(Ser592*)" "17" "0000353654" "00025691" "90" "1002" "0" "1002" "0" "c.1002del" "r.(?)" "p.(Glu335Argfs*7)" "11" "0000353655" "00025691" "90" "1097" "0" "1097" "0" "c.1097del" "r.(?)" "p.(Gly366Aspfs*5)" "11" "0000353656" "00025691" "90" "1844" "0" "1846" "0" "c.1844_1846delinsCT" "r.(?)" "p.(Ser615Thrfs*46)" "18" "0000368555" "00025691" "99" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Arg90*)" "6" "0000368556" "00025691" "99" "535" "0" "535" "0" "c.535C>T" "r.(?)" "p.(Arg179*)" "8" "0000368557" "00025691" "99" "937" "0" "937" "0" "c.937dup" "r.(?)" "p.(Ser313Phefs*7)" "10" "0000368558" "00025691" "99" "968" "0" "968" "0" "c.968dup" "r.(?)" "p.(Pro324Thrfs*12)" "10" "0000368559" "00025691" "99" "1146" "1" "1146" "1" "c.1146+1G>A" "r.spl" "p.?" "11i" "0000368560" "00025691" "99" "1201" "0" "1204" "0" "c.1201_1204del" "r.(?)" "p.(Gln401Thrfs*10)" "12" "0000368561" "00025691" "99" "1255" "-1" "1255" "-1" "c.1255-1G>A" "r.spl" "p.?" "12i" "0000368562" "00025691" "99" "1255" "-1" "1255" "-1" "c.1255-1G>T" "r.spl" "p.?" "12i" "0000368563" "00025691" "99" "1501" "0" "1501" "0" "c.1501del" "r.(?)" "p.(Arg501Glyfs*8)" "14" "0000368564" "00025691" "99" "1521" "0" "1521" "0" "c.1521dup" "r.(?)" "p.(Leu508Serfs*12)" "14" "0000368565" "00025691" "99" "1710" "0" "1710" "0" "c.1710dup" "r.(?)" "p.(His571Thrfs*8)" "15" "0000368566" "00025691" "99" "1717" "0" "1720" "0" "c.1717_1720del" "r.(?)" "p.(Gln573Valfs*3)" "15" "0000368567" "00025691" "99" "1731" "-13" "1731" "-13" "c.1731-13T>A" "r.spl" "p.(=)" "15i" "0000368568" "00025691" "99" "1731" "-2" "1731" "-2" "c.1731-2A>G" "r.spl" "p.?" "15i" "0000368569" "00025691" "99" "1731" "-2" "1731" "-2" "c.1731-2A>G" "r.spl" "p.?" "15i" "0000368570" "00025691" "99" "1782" "0" "1785" "0" "c.1782_1785dup" "r.(?)" "p.(His596Thrfs*10)" "16" "0000368571" "00025691" "99" "1890" "0" "1890" "0" "c.1890G>A" "r.(?)" "p.(Trp630*)" "17" "0000368572" "00025691" "99" "2140" "0" "2140" "0" "c.2140C>T" "r.(?)" "p.(Gln714*)" "18" "0000369756" "00025691" "70" "206" "0" "206" "0" "c.206T>A" "r.(?)" "p.(Leu69*)" "5" "0000369757" "00025691" "70" "196" "0" "197" "0" "c.196_197del" "r.(?)" "p.(Gln66Argfs*54)" "5" "0000369758" "00025691" "70" "196" "0" "197" "0" "c.196_197del" "r.(?)" "p.(Gln66Argfs*54)" "5" "0000369760" "00025691" "70" "646" "0" "647" "0" "c.646_647del" "r.(?)" "p.(Lys216Glufs*2)" "8" "0000369761" "00025691" "70" "703" "0" "703" "0" "c.703G>A" "r.(?)" "p.(Gly235Arg)" "8" "0000369762" "00025691" "70" "746" "0" "746" "0" "c.746del" "r.(?)" "p.(Ile249Lysfs*7)" "9" "0000369763" "00025691" "70" "763" "0" "763" "0" "c.763del" "r.(?)" "p.(Leu255*)" "9" "0000369764" "00025691" "70" "825" "0" "825" "0" "c.825del" "r.(?)" "p.(Met275Ilefs*13)" "9" "0000369765" "00025691" "70" "966" "0" "966" "0" "c.966G>A" "r.(?)" "p.(Trp322*)" "10" "0000369766" "00025691" "70" "1048" "0" "1048" "0" "c.1048C>T" "r.(?)" "p.(Leu350Phe)" "11" "0000369767" "00025691" "70" "990" "-1" "1146" "1" "c.(989+1_990-1)_(1146+1_1147-1)del" "r.?" "p.?" "10i_11i" "0000369768" "00025691" "70" "1147" "-1" "1254" "1" "c.(1146+1_1147-1)_(1254+1_1255-1)del" "r.?" "p.?" "11i_12i" "0000369769" "00025691" "70" "1362" "0" "1363" "0" "c.1362_1363del" "r.(?)" "p.(Gln455Argfs*24)" "" "0000369770" "00025691" "70" "1505" "0" "1511" "0" "c.1505_1511del" "r.(?)" "p.(Glu502Valfs*5)" "" "0000369771" "00025691" "70" "1517" "0" "1517" "0" "c.1517T>G" "r.(?)" "p.(Leu506Arg)" "" "0000369772" "00025691" "70" "1524" "0" "1528" "0" "c.1524_1528del" "r.(?)" "p.(Arg510Cysfs*8)" "" "0000369773" "00025691" "70" "1579" "0" "1588" "0" "c.1579_1588del" "r.(?)" "p.(Ala527Phefs*11)" "" "0000369774" "00025691" "70" "1731" "-1" "1818" "1" "c.(1730+1_1731-1)_(1818+1_1819-1)del" "r.?" "p.?" "15i_16i" "0000369775" "00025691" "70" "1979" "0" "1980" "0" "c.1979_1980dup" "r.(?)" "p.(Gly661*)" "17" "0000369776" "00025691" "70" "2028" "0" "2029" "0" "c.2028_2029insA" "r.(?)" "p.(Leu677Ilefs*6)" "18" "0000372280" "00025691" "70" "825" "0" "825" "0" "c.825del" "r.(?)" "p.(Met275Ilefs*13)" "9" "0000372281" "00025691" "70" "966" "0" "966" "0" "c.966G>A" "r.(?)" "p.(Trp322*)" "10" "0000372282" "00025691" "70" "990" "-1" "1146" "1" "c.(989+1_990-1)_(1146+1_1147-1)del" "r.(990_1146del)" "p.(Trp330Cysfs*3)" "10_11i" "0000392088" "00025691" "70" "703" "0" "703" "0" "c.703G>A" "r.(?)" "p.(Gly235Arg)" "8" "0000392090" "00025691" "70" "1524" "0" "1528" "0" "c.1524_1528del" "r.(?)" "p.(Arg510Cysfs*8)" "14" "0000392091" "00025691" "70" "1524" "0" "1528" "0" "c.1524_1528del" "r.(?)" "p.(Arg510Cysfs*8)" "14" "0000392095" "00025691" "70" "1524" "0" "1528" "0" "c.1524_1528del" "r.(?)" "p.(Arg510Cysfs*8)" "15" "0000394430" "00025691" "70" "703" "0" "703" "0" "c.703G>A" "r.(?)" "p.(Gly235Arg)" "8" "0000394434" "00025691" "70" "1524" "0" "1528" "0" "c.1524_1528del" "r.(?)" "p.(Arg510Cysfs*8)" "" "0000532977" "00025691" "90" "2051" "0" "2051" "0" "c.2051del" "r.(?)" "p.(Gly684ValfsTer23)" "" "0000532978" "00025691" "90" "2043" "0" "2043" "0" "c.2043del" "r.(?)" "p.(Lys682SerfsTer25)" "" "0000532979" "00025691" "90" "1922" "0" "1922" "0" "c.1922del" "r.(?)" "p.(Thr641LysfsTer20)" "" "0000532980" "00025691" "30" "1752" "0" "1752" "0" "c.1752C>T" "r.(?)" "p.(Ile584=)" "" "0000532981" "00025691" "30" "1689" "0" "1689" "0" "c.1689T>C" "r.(?)" "p.(Tyr563=)" "" "0000532982" "00025691" "90" "1521" "0" "1521" "0" "c.1521dup" "r.(?)" "p.(Leu508SerfsTer12)" "" "0000532983" "00025691" "90" "1412" "-1" "1412" "-1" "c.1412-1G>C" "r.spl?" "p.?" "" "0000532984" "00025691" "90" "1255" "-2" "1255" "-2" "c.1255-2A>G" "r.spl?" "p.?" "" "0000532985" "00025691" "90" "1166" "0" "1166" "0" "c.1166del" "r.(?)" "p.(Gly389GlufsTer5)" "" "0000532986" "00025691" "90" "990" "0" "990" "0" "c.990G>A" "r.(?)" "p.(Trp330Ter)" "" "0000532987" "00025691" "90" "968" "0" "968" "0" "c.968dup" "r.(?)" "p.(Pro324ThrfsTer12)" "" "0000532988" "00025691" "50" "729" "4" "729" "4" "c.729+4A>G" "r.spl?" "p.?" "" "0000532989" "00025691" "90" "729" "4" "729" "4" "c.729+4A>G" "r.spl?" "p.?" "" "0000532990" "00025691" "30" "-421" "190" "-421" "190" "c.-421+190G>T" "r.(=)" "p.(=)" "" "0000611293" "00025691" "50" "2059" "0" "2059" "0" "c.2059A>C" "r.(?)" "p.(Met687Leu)" "" "0000611294" "00025691" "90" "1287" "0" "1287" "0" "c.1287del" "r.(?)" "p.(Ser430HisfsTer7)" "" "0000611295" "00025691" "90" "1060" "0" "1060" "0" "c.1060C>T" "r.(?)" "p.(Gln354Ter)" "" "0000611296" "00025691" "30" "510" "0" "510" "0" "c.510A>G" "r.(?)" "p.(Gln170=)" "" "0000621944" "00025691" "30" "1782" "0" "1782" "0" "c.1782A>G" "r.(?)" "p.(Ala594=)" "" "0000647212" "00025691" "70" "703" "0" "703" "0" "c.703G>A" "r.599_729del" "p.Gln201Argfs*2" "8" "0000647213" "00025691" "70" "703" "0" "703" "0" "c.703G>A" "r.599_729del" "p.Gln201Argfs*2" "8" "0000647215" "00025691" "70" "1730" "1" "1730" "3" "c.1730+1_1730+3del" "r.1564_1730del" "p.Ile522*" "15" "0000647216" "00025691" "70" "1730" "1" "1730" "3" "c.1730+1_1730+3del" "r.1564_1730del" "p.Ile522*" "15" "0000647217" "00025691" "70" "1730" "1" "1730" "3" "c.1730+1_1730+3del" "r.1564_1730del" "p.Ile522*" "15" "0000647300" "00025691" "70" "966" "0" "966" "0" "c.966G>A" "r.(?)" "p.(Trp322*)" "10" "0000647301" "00025691" "70" "966" "0" "966" "0" "c.966G>A" "r.(966g>a)" "p.(Trp322*)" "10" "0000647302" "00025691" "70" "966" "0" "966" "0" "c.966G>A" "r.(966g>a)" "p.(Trp322*)" "10" "0000647303" "00025691" "70" "1664" "0" "1664" "0" "c.1664C>T" "r.1663_1730del" "p.Ala555*" "15" "0000647304" "00025691" "70" "1664" "0" "1664" "0" "c.1664C>T" "r.1663_1730del" "p.Ala555*" "15" "0000647305" "00025691" "70" "1255" "-1" "1255" "-1" "c.1255-1G>A" "r.1255_1264del" "p.Tyr419Phefs*15" "13" "0000647306" "00025691" "70" "1730" "1" "1730" "3" "c.1730+1_1730+3del" "r.1564_1730del" "p.Ile522*" "15" "0000647307" "00025691" "70" "1255" "-1" "1256" "0" "c.1255-1_1256del" "r.1255_1264del" "p.Tyr419Phefs*15" "13" "0000653368" "00025691" "70" "1201" "0" "1204" "0" "c.1201_1204del" "r.(1197_1200del)" "p.(Gln401Thrfs*10)" "12" "0000653369" "00025691" "70" "355" "31" "355" "31" "c.355+31A>G" "r.spl?" "p.(=)" "6i" "0000655904" "00025691" "90" "2043" "0" "2043" "0" "c.2043del" "r.(?)" "p.(Lys682SerfsTer25)" "" "0000655905" "00025691" "50" "263" "-18" "263" "-18" "c.263-18C>G" "r.(=)" "p.(=)" "" "0000693806" "00025691" "70" "1147" "-7" "1147" "-7" "c.1147-7T>G" "r.1146_1147ins1147-6_1147-1" "p.(?)" "11i" "0000765632" "00025691" "70" "1212" "0" "1212" "0" "c.1212G>A" "r.(?)" "p.(Trp404*)" "" "0000803280" "00025691" "50" "280" "0" "280" "0" "c.280A>G" "r.(?)" "p.(Met94Val)" "" "0000836744" "00025691" "90" "262" "132" "262" "133" "c.262+132_262+133del" "r.262_263ins262+146_262+244" "p.fs*" "5i" "0000880631" "00025691" "90" "151" "0" "154" "0" "c.151_154del" "r.(?)" "p.(Lys51PhefsTer13)" "5" "0000880632" "00025691" "90" "151" "0" "154" "0" "c.151_154del" "r.(?)" "p.(Lys51PhefsTer13)" "5" "0000880633" "00025691" "90" "151" "0" "154" "0" "c.151_154del" "r.(?)" "p.(Lys51PhefsTer13)" "5" "0000880634" "00025691" "90" "196" "0" "197" "0" "c.196_197del" "r.(?)" "p.(Gln66ArgfsTer54)" "5" "0000880635" "00025691" "90" "196" "0" "197" "0" "c.196_197del" "r.(?)" "p.(Gln66ArgfsTer54)" "5" "0000880636" "00025691" "90" "206" "0" "206" "0" "c.206T>A" "r.(?)" "p.(Leu69Ter)" "5" "0000880637" "00025691" "90" "646" "0" "647" "0" "c.646_647del" "r.(?)" "p.(Lys216GlufsTer2)" "8" "0000880638" "00025691" "90" "703" "0" "703" "0" "c.703G>A" "r.(?)" "p.(Gly235Arg)" "8" "0000880639" "00025691" "90" "703" "0" "703" "0" "c.703G>A" "r.(?)" "p.(Gly235Arg)" "8" "0000880640" "00025691" "90" "729" "1" "729" "1" "c.729+1G>A" "r.spl" "p.(Val244Glyfs*7)" "8i" "0000880641" "00025691" "90" "746" "0" "746" "0" "c.746del" "r.(?)" "p.(Ile249LysfsTer7)" "9" "0000880642" "00025691" "90" "763" "0" "763" "0" "c.763del" "r.(?)" "p.(Leu255Ter)" "9" "0000880643" "00025691" "90" "880" "0" "880" "0" "c.880C>T" "r.(?)" "p.(Arg294Ter)" "10" "0000880644" "00025691" "90" "846" "-1" "989" "1" "c.(845+1_846-1)_(989+1_990-1)del" "r.?" "p.0?" "9i_10i" "0000880645" "00025691" "90" "846" "-1" "989" "1" "c.(845+1_846-1)_(989+1_990-1)del" "r.?" "p.0?" "9i_10i" "0000880646" "00025691" "90" "846" "-1" "989" "1" "c.(845+1_846-1)_(989+1_990-1)del" "r.?" "p.0?" "9i_10i" "0000880647" "00025691" "70" "1048" "0" "1048" "0" "c.1048C>T" "r.(?)" "p.(Leu350Phe)" "9i_10i" "0000880648" "00025691" "90" "990" "-1" "1146" "1" "c.(989+1_990-1)_(1146+1_1147-1)del" "r.?" "p.(Trp330Cysfs*3)" "10i_11i" "0000880649" "00025691" "90" "990" "-1" "1146" "1" "c.(989+1_990-1)_(1146+1_1147-1)del" "r.?" "p.(Trp330Cysfs*3)" "10i_11i" "0000880650" "00025691" "90" "1249" "0" "1252" "0" "c.1249_1252del" "r.(?)" "p.(Lys417HisfsTer19)" "12" "0000880651" "00025691" "90" "1249" "0" "1252" "0" "c.1249_1252del" "r.(?)" "p.(Lys417HisfsTer19)" "12" "0000880652" "00025691" "90" "1249" "0" "1252" "0" "c.1249_1252del" "r.(?)" "p.(Lys417HisfsTer19)" "12" "0000880653" "00025691" "90" "1147" "-1" "1254" "1" "c.(1146+1_1147-1)_(1254+1_1255-1)del" "r.?" "p.0?" "11i_12i" "0000880656" "00025691" "90" "1267" "0" "1267" "0" "c.1267C>T" "r.(?)" "p.(Arg423Ter)" "13" "0000880657" "00025691" "90" "1292" "0" "1293" "0" "c.1292_1293del" "r.(?)" "p.(Tyr431SerfsTer4)" "13" "0000880658" "00025691" "90" "1362" "0" "1363" "0" "c.1362_1363del" "r.(?)" "p.(Gln455ArgfsTer24)" "13" "0000880659" "00025691" "90" "1362" "0" "1363" "0" "c.1362_1363del" "r.(?)" "p.(Gln455ArgfsTer24)" "13" "0000880660" "00025691" "90" "1362" "0" "1363" "0" "c.1362_1363del" "r.(?)" "p.(Gln455ArgfsTer24)" "13" "0000880661" "00025691" "90" "1362" "0" "1363" "0" "c.1362_1363del" "r.(?)" "p.(Gln455ArgfsTer24)" "13" "0000880662" "00025691" "90" "1362" "0" "1363" "0" "c.1362_1363del" "r.(?)" "p.(Gln455ArgfsTer24)" "13" "0000880663" "00025691" "90" "1362" "0" "1363" "0" "c.1362_1363del" "r.(?)" "p.(Gln455ArgfsTer24)" "13" "0000880664" "00025691" "90" "1362" "0" "1363" "0" "c.1362_1363del" "r.(?)" "p.(Gln455ArgfsTer24)" "13" "0000880665" "00025691" "90" "1362" "0" "1363" "0" "c.1362_1363del" "r.(?)" "p.(Gln455ArgfsTer24)" "13" "0000880666" "00025691" "90" "1362" "0" "1363" "0" "c.1362_1363del" "r.(?)" "p.(Gln455ArgfsTer24)" "13" "0000880667" "00025691" "90" "1362" "0" "1363" "0" "c.1362_1363del" "r.(?)" "p.(Gln455ArgfsTer24)" "13" "0000880668" "00025691" "90" "1362" "0" "1363" "0" "c.1362_1363del" "r.(?)" "p.(Gln455ArgfsTer24)" "13" "0000880669" "00025691" "90" "1362" "0" "1363" "0" "c.1362_1363del" "r.(?)" "p.(Gln455ArgfsTer24)" "13" "0000880670" "00025691" "90" "1362" "0" "1363" "0" "c.1362_1363del" "r.(?)" "p.(Gln455ArgfsTer24)" "13" "0000880671" "00025691" "90" "1362" "0" "1363" "0" "c.1362_1363del" "r.(?)" "p.(Gln455ArgfsTer24)" "13" "0000880672" "00025691" "90" "1363" "0" "1363" "0" "c.1363C>T" "r.(?)" "p.(Gln455Ter)" "13" "0000880673" "00025691" "90" "1363" "0" "1363" "0" "c.1363C>T" "r.(?)" "p.(Gln455Ter)" "13" "0000880674" "00025691" "90" "1444" "0" "1444" "0" "c.1444C>T" "r.(?)" "p.(Gln482Ter)" "14" "0000880675" "00025691" "90" "1505" "0" "1511" "0" "c.1505_1511del" "r.(?)" "p.(Glu502ValfsTer5)" "14" "0000880676" "00025691" "90" "1517" "0" "1517" "0" "c.1517T>G" "r.(?)" "p.(Leu506Arg)" "14" "0000880677" "00025691" "90" "1524" "0" "1528" "0" "c.1524_1528del" "r.(?)" "p.(Arg510CysfsTer8)" "14" "0000880678" "00025691" "90" "1524" "0" "1528" "0" "c.1524_1528del" "r.(?)" "p.(Arg510CysfsTer8)" "14" "0000880679" "00025691" "90" "1524" "0" "1528" "0" "c.1524_1528del" "r.(?)" "p.(Arg510CysfsTer8)" "14" "0000880680" "00025691" "90" "1524" "0" "1528" "0" "c.1524_1528del" "r.(?)" "p.(Arg510CysfsTer8)" "14" "0000880681" "00025691" "90" "1579" "0" "1588" "0" "c.1579_1588del" "r.(?)" "p.(Ala527PhefsTer11)" "15" "0000880682" "00025691" "90" "1688" "0" "1689" "0" "c.1688_1689del" "r.(?)" "p.(Tyr563TrpfsTer4)" "15" "0000880683" "00025691" "90" "1877" "0" "1877" "0" "c.1877T>A" "r.(?)" "p.(Leu626Ter)" "17" "0000880684" "00025691" "90" "1877" "0" "1877" "0" "c.1877T>A" "r.(?)" "p.(Leu626Ter)" "17" "0000880685" "00025691" "90" "1877" "0" "1877" "0" "c.1877T>A" "r.(?)" "p.(Leu626Ter)" "17" "0000880686" "00025691" "90" "1877" "0" "1877" "0" "c.1877T>A" "r.(?)" "p.(Leu626Ter)" "17" "0000880687" "00025691" "90" "1731" "-1" "1818" "1" "c.(1730+1_1731-1)_(1818+1_1819-1)del" "r.?" "p.(Asn577Lysfs*55)" "15i_16i" "0000880688" "00025691" "90" "1979" "0" "1980" "0" "c.1979_1980dup" "r.(?)" "p.(Gly661Ter)" "17" "0000880689" "00025691" "90" "2020" "0" "2020" "0" "c.2020dup" "r.(?)" "p.(Thr674AsnfsTer2)" "17" "0000880690" "00025691" "90" "2026" "-3" "2026" "-3" "c.2026-3C>A" "r.spl" "p.(Ala676_Gln714del)" "17i" "0000880691" "00025691" "90" "2026" "-12" "2026" "-12" "c.2026-12A>G" "r.spl" "p.(Ala676_Gln714del)" "17i" "0000880692" "00025691" "90" "2025" "1" "2025" "1" "c.2025+1G>A" "r.spl" "p.(Asn607_Lys675del)" "17i" "0000880693" "00025691" "90" "2029" "0" "2030" "0" "c.2029_2030insA" "r.(?)" "p.(Leu677TyrfsTer6)" "18" "0000880694" "00025691" "90" "2029" "0" "2030" "0" "c.2029_2030insA" "r.(?)" "p.(Leu677TyrfsTer6)" "18" "0000880695" "00025691" "90" "2029" "0" "2030" "0" "c.2029_2030insA" "r.(?)" "p.(Leu677TyrfsTer6)" "18" "0000880696" "00025691" "90" "1819" "-1" "2142" "1" "c.(1818+1_1819-1)_(2142+1_2143-1)del" "r.?" "p.(Asn607_Gln714del)" "16i_18i" "0000880697" "00025691" "90" "-545" "0" "3978" "0" "c.-545_*1767del" "r.0?" "p.0?" "_1_19_" "0000880698" "00025691" "90" "-545" "0" "3978" "0" "c.-545_*1767del" "r.0?" "p.0?" "_1_19_" "0000880864" "00025691" "90" "1255" "-1" "1256" "0" "c.1255-1_1256del" "r.spl" "p.?" "12i_13" "0000880865" "00025691" "90" "1267" "0" "1267" "0" "c.1267C>T" "r.(?)" "p.(Arg423*)" "13" "0000888016" "00025691" "90" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Gln66Ter)" "" "0000888017" "00025691" "90" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Gln66Ter)" "" "0000888018" "00025691" "30" "-525" "0" "-525" "0" "c.-525G>T" "r.(?)" "p.(=)" "" "0000912817" "00025691" "30" "1095" "0" "1095" "0" "c.1095A>G" "r.(?)" "p.(Gly365=)" "" "0000924767" "00025691" "30" "2207" "0" "2207" "0" "c.2207C>T" "r.(?)" "p.(Ser736Leu)" "" "0000924768" "00025691" "30" "2046" "0" "2046" "0" "c.2046G>A" "r.(?)" "p.(Lys682=)" "" "0000924769" "00025691" "30" "1245" "0" "1245" "0" "c.1245T>G" "r.(?)" "p.(Ile415Met)" "" "0000924770" "00025691" "30" "1140" "0" "1140" "0" "c.1140G>A" "r.(?)" "p.(Thr380=)" "" "0000924771" "00025691" "50" "495" "0" "495" "0" "c.495T>G" "r.(?)" "p.(Asp165Glu)" "" "0000924772" "00025691" "90" "486" "-2" "486" "-2" "c.486-2A>G" "r.spl?" "p.?" "" "0000936007" "00025691" "90" "263" "-5" "263" "-3" "c.263-5_263-3dup" "r.spl?" "p.?" "" "0000948957" "00025691" "90" "1267" "0" "1267" "0" "c.1267C>T" "r.(?)" "p.(Arg423Ter)" "" "0000948958" "00025691" "50" "1063" "0" "1063" "0" "c.1063C>T" "r.(?)" "p.(Leu355Phe)" "" "0000948959" "00025691" "30" "990" "-14" "990" "-11" "c.990-14_990-11del" "r.(=)" "p.(=)" "" "0000948960" "00025691" "30" "302" "0" "302" "0" "c.302G>T" "r.(?)" "p.(Gly101Val)" "" "0000964700" "00025691" "30" "989" "12" "989" "12" "c.989+12A>G" "r.(=)" "p.(=)" "" "0000977880" "00025691" "30" "1146" "8" "1146" "8" "c.1146+8A>T" "r.(=)" "p.(=)" "" "0000977881" "00025691" "30" "-2" "-7" "-2" "-7" "c.-2-7T>C" "r.(=)" "p.(=)" "" "0000996713" "00025691" "50" "1988" "0" "1988" "0" "c.1988A>G" "r.(?)" "p.(Asn663Ser)" "" "0000996714" "00025691" "30" "386" "0" "386" "0" "c.386G>A" "r.(?)" "p.(Cys129Tyr)" "" "0000996715" "00025691" "50" "134" "0" "134" "0" "c.134A>G" "r.(?)" "p.(Gln45Arg)" "" "0000996716" "00025691" "50" "59" "0" "59" "0" "c.59C>T" "r.(?)" "p.(Thr20Ile)" "" "0001014387" "00025691" "30" "2068" "0" "2068" "0" "c.2068T>C" "r.(?)" "p.(=)" "" "0001014388" "00025691" "30" "675" "0" "675" "0" "c.675A>T" "r.(?)" "p.(=)" "" "0001022224" "00025691" "70" "263" "-18" "263" "-18" "c.263-18C>G" "r.[262_263ins263-17_263-1,=]" "p.[Gly88ValfsTer6,=]" "5i" "0001022229" "00025691" "50" "1411" "3" "1411" "3" "c.1411+3A>T" "r.1255_1411del" "p.Tyr419AlafsTer24" "13i" "0001025437" "00025691" "90" "2051" "0" "2051" "0" "c.2051del" "r.(?)" "p.(Gly684ValfsTer23)" "" "0001025438" "00025691" "70" "1981" "0" "1981" "0" "c.1981G>T" "r.(?)" "p.(Gly661Ter)" "" "0001025439" "00025691" "30" "77" "0" "77" "0" "c.77G>A" "r.(?)" "p.(Arg26Gln)" "" "0001030015" "00025691" "90" "729" "2" "729" "2" "c.729+2T>G" "r.spl" "p.?" "" "0001036569" "00025691" "30" "1070" "0" "1070" "0" "c.1070C>G" "r.(?)" "p.(Ser357Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 141 "{{screeningid}}" "{{variantid}}" "0000017909" "0000038359" "0000154172" "0000353653" "0000154173" "0000353654" "0000154174" "0000353655" "0000154175" "0000353656" "0000164939" "0000368555" "0000164940" "0000368556" "0000164941" "0000368557" "0000164942" "0000368558" "0000164943" "0000368559" "0000164944" "0000368560" "0000164945" "0000368561" "0000164946" "0000368562" "0000164947" "0000368563" "0000164948" "0000368564" "0000164949" "0000368565" "0000164950" "0000368566" "0000164951" "0000368567" "0000164952" "0000368568" "0000164953" "0000368569" "0000164954" "0000368570" "0000164955" "0000368571" "0000164956" "0000368572" "0000165929" "0000369756" "0000165930" "0000369757" "0000165931" "0000369758" "0000165933" "0000369760" "0000165934" "0000369761" "0000165935" "0000369762" "0000165936" "0000369763" "0000165937" "0000369764" "0000165938" "0000369765" "0000165939" "0000369766" "0000165940" "0000369767" "0000165941" "0000369768" "0000165942" "0000369769" "0000165943" "0000369770" "0000165944" "0000369771" "0000165945" "0000369772" "0000165946" "0000369773" "0000165947" "0000369774" "0000165948" "0000369775" "0000165949" "0000369776" "0000166571" "0000372280" "0000166572" "0000372281" "0000166573" "0000372282" "0000171734" "0000392088" "0000171735" "0000392090" "0000171736" "0000392091" "0000171740" "0000392095" "0000174617" "0000394430" "0000174618" "0000394434" "0000290529" "0000647212" "0000290530" "0000647213" "0000290532" "0000647215" "0000290533" "0000647216" "0000290534" "0000647217" "0000290611" "0000647300" "0000290612" "0000647301" "0000290613" "0000647302" "0000290614" "0000647303" "0000290615" "0000647304" "0000290616" "0000647305" "0000290617" "0000647306" "0000290618" "0000647307" "0000296675" "0000653368" "0000296676" "0000653369" "0000312250" "0000693806" "0000364729" "0000765632" "0000402524" "0000836744" "0000420295" "0000880631" "0000420296" "0000880632" "0000420297" "0000880633" "0000420298" "0000880634" "0000420299" "0000880635" "0000420300" "0000880636" "0000420301" "0000880637" "0000420302" "0000880638" "0000420303" "0000880639" "0000420304" "0000880640" "0000420305" "0000880641" "0000420306" "0000880642" "0000420307" "0000880643" "0000420308" "0000880644" "0000420309" "0000880645" "0000420310" "0000880646" "0000420311" "0000880647" "0000420312" "0000880648" "0000420313" "0000880649" "0000420314" "0000880650" "0000420315" "0000880651" "0000420316" "0000880652" "0000420317" "0000880653" "0000420320" "0000880656" "0000420321" "0000880657" "0000420322" "0000880658" "0000420323" "0000880659" "0000420324" "0000880660" "0000420325" "0000880661" "0000420326" "0000880662" "0000420327" "0000880663" "0000420328" "0000880664" "0000420329" "0000880665" "0000420330" "0000880666" "0000420331" "0000880667" "0000420332" "0000880668" "0000420333" "0000880669" "0000420334" "0000880670" "0000420335" "0000880671" "0000420336" "0000880672" "0000420337" "0000880673" "0000420338" "0000880674" "0000420339" "0000880675" "0000420340" "0000880676" "0000420341" "0000880677" "0000420342" "0000880678" "0000420343" "0000880679" "0000420344" "0000880680" "0000420345" "0000880681" "0000420346" "0000880682" "0000420347" "0000880683" "0000420348" "0000880684" "0000420349" "0000880685" "0000420350" "0000880686" "0000420351" "0000880687" "0000420352" "0000880688" "0000420353" "0000880689" "0000420354" "0000880690" "0000420355" "0000880691" "0000420356" "0000880692" "0000420357" "0000880693" "0000420358" "0000880694" "0000420359" "0000880695" "0000420360" "0000880696" "0000420361" "0000880697" "0000420362" "0000880698" "0000420508" "0000880864" "0000420509" "0000880865" "0000439878" "0000936007" "0000462697" "0001022224" "0000466161" "0001030015"