### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TCF4) # 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}}" "TCF4" "transcription factor 4" "18" "q21.1" "unknown" "NG_011716.2" "UD_132085330863" "" "https://www.LOVD.nl/TCF4" "" "1" "11634" "6925" "602272" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/TCF4_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2008-05-16 00:00:00" "00006" "2017-03-29 09:06:41" "00006" "2025-08-29 19:53:54" ## 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}}" "00000133" "TCF4" "transcription factor 4, transcript variant 1" "002" "NM_001083962.1" "" "NP_001077431.1" "" "" "" "-612" "7720" "2016" "53255860" "52889562" "00002" "2012-05-11 13:12:12" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00230" "AS" "Angelman syndrome (AS)" "AD" "105830" "" "" "" "00006" "2013-10-09 19:24:15" "00006" "2021-12-10 21:51:32" "00742" "PTHS" "Pitt-Hopkins syndrome (PTHS)" "AD" "610954" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04336" "FECD3" "dystrophy, corneal, Fuchs endothelial, type 3 (FECD-3)" "AD" "613267" "" "" "" "00006" "2015-09-22 17:29:12" "00006" "2021-12-10 21:51:32" "04337" "FECD" "dystrophy, corneal, Fuchs endothelial (FECD)" "" "" "" "" "" "00006" "2015-09-22 17:30:01" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "TCF4" "00139" "TCF4" "00742" "TCF4" "04336" ## Individuals ## Do not remove or alter this header ## ## Count = 185 "{{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}}" "00000029" "" "" "" "1" "" "00004" "{PMID:Almomani 2011:21102627}" "" "" "" "" "" "0" "" "" "" "" "00037224" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037225" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037226" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037227" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037228" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037229" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037230" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037231" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037232" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037233" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00050495" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050521" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050538" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00101234" "" "" "" "1" "" "01864" "" "" "M" "no" "China" ">01y" "0" "" "" "" "P1" "00111400" "" "" "" "1" "" "00729" "{PMID:Popp 2017:29158550}, {DOI:Popp 2017:10.1038/s41431-017-0022-1}" "" "F" "no" "" "" "0" "" "" "" "S_047" "00112648" "" "" "" "1" "" "01950" "{PMID:Kalscheuer 2008:18627065}" "" "F" "" "" "" "0" "" "" "" "" "00112649" "" "" "" "1" "" "01950" "{PMID:Marangi 2011:21671391}" "" "F" "" "" "" "0" "" "" "" "" "00112650" "" "" "" "1" "" "00006" "{PMID:Amiel 2007:17436254}" "" "F" "" "" "" "0" "" "" "" "" "00112651" "" "" "" "1" "" "00006" "{PMID:Zweier 2007:17436255}; {PMID:Peippo 2006:16531728}" "" "M" "" "" "" "0" "" "" "" "" "00112652" "" "" "" "1" "" "00006" "{PMID:Andrieux 2008:18222743}" "" "M" "" "" "" "0" "" "" "" "" "00112653" "" "" "" "1" "" "00006" "Gustavsson" "" "" "" "" "" "0" "" "" "" "" "00112654" "" "" "" "1" "" "01950" "{PMID:Giurgea 2008:18781613}" "" "F" "" "" "" "0" "" "" "" "" "00112655" "" "" "" "1" "" "01950" "{PMID:Giurgea 2008:18781613}" "" "M" "" "" "" "0" "" "" "" "" "00112656" "" "" "" "1" "" "01950" "{PMID:Giurgea 2008:18781613}" "" "F" "" "" "" "0" "" "" "" "" "00112657" "" "" "" "1" "" "01950" "{PMID:Giurgea 2008:18781613}" "" "M" "" "" "" "0" "" "" "" "" "00112658" "" "" "" "1" "" "01950" "{PMID:De Pontual 2008:19235238}" "" "" "" "" "" "0" "" "" "" "" "00112659" "" "" "" "1" "" "01950" "{PMID:De Pontual 2008:19235238}" "" "" "" "" "" "0" "" "" "" "" "00112660" "" "" "" "1" "" "01950" "{PMID:De Pontual 2008:19235238}" "" "" "" "" "" "0" "" "" "" "" "00112661" "" "" "" "1" "" "01950" "{PMID:Kato 2010:19813260}" "" "F" "" "" "" "0" "" "" "" "" "00112662" "" "" "" "1" "" "01950" "{PMID:Marangi 2011:21671391}" "" "F" "" "" "" "0" "" "" "" "" "00112663" "" "" "" "1" "" "01950" "{PMID:Marangi 2011:21671391}" "" "M" "" "" "" "0" "" "" "" "" "00112664" "" "" "" "1" "" "01950" "" "" "F" "" "" "" "0" "" "" "" "" "00112665" "" "" "" "1" "" "01950" "" "" "M" "" "" "" "0" "" "" "" "" "00112666" "" "" "" "1" "" "01950" "" "" "F" "" "" "" "0" "" "" "" "" "00112667" "" "" "" "1" "" "01950" "" "" "M" "" "" "" "0" "" "" "" "" "00112668" "" "" "" "1" "" "01950" "{PMID:Rosenfeld 2009:19938247}" "" "M" "" "" "" "0" "" "" "" "" "00112669" "" "" "" "1" "" "01950" "{PMID:Rosenfeld 2009:19938247}" "" "F" "" "" "" "0" "" "" "" "" "00112670" "" "" "" "1" "" "01950" "{PMID:Rosenfeld 2009:19938247}" "" "F" "" "" "" "0" "" "" "" "" "00112671" "" "" "" "1" "" "00006" "{PMID:Brockschmidt 2007:17478476}" "" "F" "" "" "" "0" "" "" "" "" "00112672" "" "" "" "1" "" "01950" "" "" "F" "" "" "" "0" "" "" "" "" "00112673" "" "" "" "1" "" "01950" "" "" "M" "" "" "" "0" "" "" "" "" "00112674" "" "" "" "1" "" "01950" "" "" "F" "" "" "" "0" "" "" "" "" "00112675" "" "" "" "1" "" "01950" "{PMID:Rosenfeld 2009:19938247}" "" "F" "" "" "" "0" "" "" "" "" "00112676" "" "" "" "1" "" "01950" "{PMID:Zweier 2008:18728071}" "" "F" "" "" "" "0" "" "" "" "" "00112677" "" "" "" "1" "" "01950" "" "" "F" "" "" "" "0" "" "" "" "" "00112678" "" "" "" "1" "" "01950" "" "" "F" "" "" "" "0" "" "" "" "" "00112679" "" "" "" "1" "" "01950" "{PMID:Marangi 2011:21671391}" "" "F" "" "" "" "0" "" "" "" "" "00112680" "" "" "" "1" "" "01950" "" "" "M" "" "" "" "0" "" "" "" "" "00112681" "" "" "" "1" "" "01950" "{PMID:Rosenfeld 2009:19938247}" "" "F" "" "" "" "0" "" "" "" "" "00112682" "" "" "" "1" "" "01950" "{PMID:Rosenfeld 2009:19938247}" "" "F" "" "" "" "0" "" "" "" "" "00112683" "" "" "" "1" "" "01950" "{PMID:Rosenfeld 2009:19938247}" "" "M" "" "" "" "0" "" "" "" "" "00112684" "" "" "" "1" "" "01950" "{PMID:Zweier 2008:18728071}" "" "F" "" "" "" "0" "" "" "" "" "00112685" "" "" "" "1" "" "00006" "{PMID:Zweier 2007:17436255}; {PMID:Peippo 2006:16531728}; {OMIM602272:00004}" "" "F" "" "" "" "0" "" "" "" "" "00112686" "" "" "" "1" "" "01950" "{PMID:Lehalle 2011:21671383}" "" "F" "" "" "" "0" "" "" "" "" "00112687" "" "" "" "1" "" "01950" "{PMID:Giurgea 2008:18781613}" "" "F" "" "" "" "0" "" "" "" "" "00112688" "" "" "" "1" "" "00006" "{PMID:Zweier 2007:17436255}; {PMID:Peippo 2006:16531728}" "" "" "" "" "" "0" "" "" "" "" "00112689" "" "" "" "1" "" "01950" "{PMID:Giurgea 2008:18781613}" "" "F" "" "" "" "0" "" "" "" "" "00112690" "" "" "" "1" "" "01950" "{PMID:Zweier 2008:18728071}" "" "M" "" "" "" "0" "" "" "" "" "00112691" "" "" "" "1" "" "01950" "{PMID:Zweier 2008:18728071}" "" "M" "" "" "" "0" "" "" "" "" "00112692" "" "" "" "1" "" "01950" "{PMID:De Pontual 2008:19235238}" "" "" "" "" "" "0" "" "" "" "" "00112693" "" "" "" "1" "" "01950" "" "" "F" "" "" "" "0" "" "" "" "" "00112694" "" "" "" "1" "" "01950" "{PMID:Zweier 2008:18728071}" "" "F" "" "" "" "0" "" "" "" "" "00112695" "" "" "" "1" "" "01950" "{PMID:Zweier 2008:18728071}" "" "F" "" "" "" "0" "" "" "" "" "00112696" "" "" "" "1" "" "00006" "{PMID:Zweier 2007:17436255}; {PMID:Peippo 2006:16531728}" "" "F" "" "" "" "0" "" "" "" "" "00112697" "" "" "" "1" "" "01950" "" "" "F" "" "" "" "0" "" "" "" "" "00112698" "" "" "" "1" "" "01950" "{PMID:Giurgea 2008:18781613}" "" "M" "" "" "" "0" "" "" "" "" "00112699" "" "" "" "1" "" "01950" "{PMID:Zweier 2008:18728071}" "" "F" "" "" "" "0" "" "" "" "" "00112700" "" "" "" "1" "" "01950" "" "" "F" "" "" "" "0" "" "" "" "" "00112701" "" "" "" "1" "" "01950" "" "" "M" "" "" "" "0" "" "" "" "" "00112702" "" "" "" "1" "" "01950" "{PMID:Giurgea 2008:18781613}" "" "F" "" "" "" "0" "" "" "" "" "00112703" "" "" "" "1" "" "01950" "{PMID:De Pontual 2008:19235238}" "" "" "" "" "" "0" "" "" "" "" "00112704" "" "" "" "1" "" "01950" "{PMID:Zweier 2008:18728071}" "" "M" "" "" "" "0" "" "" "" "" "00112705" "" "" "" "1" "" "01950" "{PMID:Takano 2010:20184619}" "" "" "" "" "" "0" "" "" "" "" "00112706" "" "" "" "1" "" "00006" "{PMID:Zweier 2007:17436255}; {PMID:Peippo 2006:16531728}" "" "M" "" "" "" "0" "" "" "" "" "00112707" "" "" "" "1" "" "01950" "" "" "M" "" "" "" "0" "" "" "" "" "00112708" "" "" "" "1" "" "01950" "" "" "F" "" "" "" "0" "" "" "" "" "00112709" "" "" "" "1" "" "01950" "" "" "M" "" "" "" "0" "" "" "" "" "00112710" "" "" "" "1" "" "01950" "" "" "M" "" "" "" "0" "" "" "" "" "00112711" "" "" "" "1" "" "01950" "{PMID:Marangi 2011:21671391}" "" "M" "" "" "" "0" "" "" "" "" "00112712" "" "" "" "1" "" "01950" "{PMID:Zweier 2008:18728071}" "" "M" "" "" "" "0" "" "" "" "" "00112713" "" "" "" "1" "" "01950" "" "" "F" "" "" "" "0" "" "" "" "" "00112714" "" "" "" "1" "" "01950" "{PMID:Marangi 2011:21671391}" "" "M" "" "" "" "0" "" "" "" "" "00112715" "" "" "" "1" "" "01950" "{PMID:Zweier 2008:18728071}" "" "M" "" "" "" "0" "" "" "" "" "00112716" "" "" "" "1" "" "01950" "{PMID:De Pontual 2008:19235238}" "" "" "" "" "" "0" "" "" "" "" "00112717" "" "" "" "1" "" "01950" "" "" "M" "" "" "" "0" "" "" "" "" "00112718" "" "" "" "1" "" "01950" "{PMID:Lehalle 2011:21671383}" "" "" "" "" "" "0" "" "" "" "" "00112719" "" "" "" "1" "" "01950" "{PMID:De Pontual 2008:19235238}" "" "" "" "" "" "0" "" "" "" "" "00112720" "" "" "" "1" "" "01950" "{PMID:Zweier 2008:18728071}" "" "M" "" "" "" "0" "" "" "" "" "00112721" "" "" "" "1" "" "01950" "{PMID:Marangi 2011:21671391}" "" "M" "" "" "" "0" "" "" "" "" "00112722" "" "" "" "1" "" "01950" "{PMID:Zweier 2008:18728071}" "" "M" "" "" "" "0" "" "" "" "" "00112723" "" "" "" "1" "" "01950" "{PMID:Marangi 2011:21671391}" "" "F" "" "" "" "0" "" "" "" "" "00112724" "" "" "" "1" "" "01950" "{PMID:De Pontual 2008:19235238}" "" "" "" "" "" "0" "" "" "" "" "00112725" "" "" "" "1" "" "01950" "{PMID:Marangi 2011:21671391}" "" "F" "" "" "" "0" "" "" "" "" "00112726" "" "" "" "1" "" "01950" "" "" "M" "" "" "" "0" "" "" "" "" "00112727" "" "" "" "1" "" "01950" "{PMID:De Pontual 2008:19235238}" "" "" "" "" "" "0" "" "" "" "" "00112728" "" "" "" "1" "" "01950" "{PMID:Giurgea 2008:18781613}" "" "F" "" "" "" "0" "" "" "" "" "00112729" "" "" "" "1" "" "01950" "" "" "M" "" "" "" "0" "" "" "" "" "00112730" "" "" "" "1" "" "01950" "" "" "F" "" "" "" "0" "" "" "" "" "00112731" "" "" "" "1" "" "01950" "{PMID:Marangi 2011:21671391}" "" "F" "" "" "" "0" "" "" "" "" "00112732" "" "" "" "1" "" "01950" "{PMID:Zweier 2008:18728071}" "" "F" "" "" "" "0" "" "" "" "" "00112733" "" "" "" "1" "" "01950" "" "" "M" "" "" "" "0" "" "" "" "" "00112734" "" "" "" "1" "" "01950" "{PMID:De Pontual 2008:19235238}" "" "" "" "" "" "0" "" "" "" "" "00112735" "" "" "" "1" "" "01950" "{PMID:De Pontual 2008:19235238}" "" "" "" "" "" "0" "" "" "" "" "00112736" "" "" "" "1" "" "01950" "{PMID:Zweier 2008:18728071}" "" "F" "" "" "" "0" "" "" "" "" "00112737" "" "" "" "1" "" "01950" "{PMID:Marangi 2011:21671391}" "" "F" "" "" "" "0" "" "" "" "" "00112738" "" "" "" "1" "" "01950" "{PMID:Marangi 2011:21671391}" "" "F" "" "" "" "0" "" "" "" "" "00112739" "" "" "" "1" "" "01950" "" "" "F" "" "" "" "0" "" "" "" "" "00112740" "" "" "" "1" "" "01950" "{PMID:Zweier 2008:18728071}" "" "M" "" "" "" "0" "" "" "" "" "00112741" "" "" "" "1" "" "00006" "{PMID:Amiel 2007:17436254}; {OMIM602272:00001}" "" "M" "" "" "" "0" "" "" "" "" "00112742" "" "" "" "1" "" "00006" "{PMID:Amiel 2007:17436254}; {OMIM602272:00001}" "" "M" "" "" "" "0" "" "" "" "" "00112743" "" "" "" "1" "" "00006" "{PMID:Zweier 2007:17436255}; {PMID:Peippo 2006:16531728}" "" "M" "" "" "" "0" "" "" "" "" "00112744" "" "" "" "1" "" "01950" "{PMID:Giurgea 2008:18781613}; {OMIM602272:00001}" "" "M" "" "" "" "0" "" "" "" "" "00112745" "" "" "" "1" "" "01950" "{PMID:Marangi 2011:21671391}" "" "M" "" "" "" "0" "" "" "" "" "00112746" "" "" "" "1" "" "01950" "" "" "M" "" "" "" "0" "" "" "" "" "00112747" "" "" "" "1" "" "01950" "{PMID:Amiel 2007:17436254}; {OMIM602272:00002}" "" "F" "" "" "" "0" "" "" "" "" "00112748" "" "" "" "1" "" "01950" "" "" "F" "" "" "" "0" "" "" "" "" "00112749" "" "" "" "1" "" "01950" "{PMID:Takano 2010:20184619}" "" "" "" "" "" "0" "" "" "" "" "00112750" "" "" "" "1" "" "01950" "" "" "F" "" "" "" "0" "" "" "" "" "00112751" "" "" "" "1" "" "01950" "" "" "F" "" "" "" "0" "" "" "" "" "00112752" "" "" "" "1" "" "01950" "" "" "F" "" "" "" "0" "" "" "" "" "00112753" "" "" "" "1" "" "01950" "{PMID:De Pontual 2008:19235238}" "" "" "" "" "" "0" "" "" "" "" "00112754" "" "" "" "1" "" "01950" "{PMID:Marangi 2011:21671391}" "" "F" "" "" "" "0" "" "" "" "" "00112755" "" "" "" "1" "" "01950" "" "" "F" "" "" "" "0" "" "" "" "" "00112756" "" "" "" "1" "" "01950" "" "" "M" "" "" "" "0" "" "" "" "" "00112757" "" "" "" "1" "" "01950" "" "" "M" "" "" "" "0" "" "" "" "" "00112758" "" "" "" "1" "" "01950" "{PMID:Zweier 2008:18728071}" "" "M" "" "" "" "0" "" "" "" "" "00119146" "" "" "" "1" "" "01950" "" "" "" "" "" "" "0" "" "" "" "" "00119147" "" "" "" "1" "" "01950" "{PMID:Tan 2015:25693842}" "" "" "" "" "" "0" "" "" "" "" "00119148" "" "" "" "1" "" "01950" "" "" "" "" "" "" "0" "" "" "" "" "00119149" "" "" "" "1" "" "01950" "" "" "" "" "" "" "0" "" "" "" "" "00119150" "" "" "" "1" "" "01950" "" "" "" "" "" "" "0" "" "" "" "" "00119151" "" "" "" "1" "" "01950" "" "" "" "" "" "" "0" "" "" "" "" "00119152" "" "" "" "1" "" "01950" "" "" "" "" "" "" "0" "" "" "" "" "00119153" "" "" "" "1" "" "01950" "" "" "" "" "" "" "0" "" "" "" "" "00119154" "" "" "" "1" "" "01950" "{PMID:Redin 2014:25167861}" "" "M" "" "France" "" "0" "" "" "" "APN-41" "00119155" "" "" "" "1" "" "01950" "{PMID:Redin 2014:25167861}" "" "F" "" "France" "" "0" "" "" "" "APN-117" "00119156" "" "" "" "1" "" "01950" "{PMID:Grozeva 2015:26350204}" "" "" "" "" "" "0" "" "" "" "" "00119157" "" "" "" "1" "" "01950" "{PMID:Grozeva 2015:26350204}" "" "" "" "" "" "0" "" "" "" "" "00119158" "" "" "" "1" "" "01950" "{PMID:Tan 2015:25693842}" "" "" "" "" "" "0" "" "" "" "" "00119159" "" "" "" "1" "" "01950" "{PMID:Hamdan 2013 :22670824}" "" "" "" "" "" "0" "" "" "" "" "00119160" "" "" "" "1" "" "01950" "{PMID:De Ligt 2012:23033978}" "" "" "" "" "" "0" "" "" "" "" "00155303" "" "" "" "4" "" "00006" "{PMID:Mootha 2014:24255041}" "3-generation family, 4 affecteds (3F, M)" "F;M" "no" "United States" "" "0" "" "" "" "24255041-F14" "00155304" "" "" "" "4" "" "00006" "{PMID:Mootha 2014:24255041}" "4-generation family, 4 affecteds (2F, 2M), 2 unaffected carriers" "F;M" "no" "United States" "" "0" "" "" "" "24255041-F32" "00155305" "" "" "" "2" "" "00006" "{PMID:Mootha 2014:24255041}" "3-generation family, 2 affecteds (F, M), 1 unaffected carrier" "F;M" "no" "United States" "" "0" "" "" "" "24255041-F39" "00155306" "" "" "" "2" "" "00006" "{PMID:Mootha 2014:24255041}" "4-generation family, 2 affecteds (2F)" "F" "no" "United States" "" "0" "" "" "" "24255041-F36" "00155307" "" "" "" "4" "" "00006" "{PMID:Mootha 2014:24255041}" "3-generation family, 4 affecteds (3F, M), 1 unaffected carrier; affected brother/sister" "F;M" "no" "United States" "" "0" "" "" "" "24255041-F10-VVM173/191" "00155308" "" "" "" "3" "" "00006" "{PMID:Mootha 2014:24255041}" "4-generation family, 3 affecteds (2F, M)" "F" "no" "United States" "" "0" "" "" "" "24255041-F33" "00155309" "" "" "00155307" "2" "" "00006" "{PMID:Mootha 2014:24255041}" "mother/daughter" "F" "no" "United States" "" "0" "" "" "" "24255041-F10-VVM16/187" "00155310" "" "" "" "344" "" "00006" "{PMID:Zarouchlioti 2018:29526280}" "344/450 FECD individuals" "F;M" "no" "" "" "0" "" "" "European" "29526280-Fams" "00183048" "" "" "" "1" "" "00006" "{PMID:de Ligt 2012:23033978}" "" "F" "" "Netherlands" "" "0" "" "" "" "23033978-Trio15" "00269882" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00276041" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00291983" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291984" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291985" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295946" "" "" "" "1" "" "03446" "" "" "F" "no" "Russian Federation" "06y" "0" "" "" "" "" "00296380" "" "" "" "1" "" "01164" "" "" "?" "" "" "" "0" "" "" "" "" "00296787" "" "" "" "1" "" "00006" "{PMID:Redin 2014:25167861}" "analysis 106 patients; 2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "France" "" "0" "" "" "" "APN-101" "00301673" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00302778" "" "" "" "1" "" "00006" "{PMID:Hamdan 2015:25356899}" "" "M" "" "Canada" "" "0" "" "" "" "1045.400" "00302885" "" "" "" "1" "" "00006" "{PMID:Srivastava 2018:29322350}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "Pat6" "00307779" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5411380" "00307780" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5410771" "00373723" "" "" "" "1" "" "01864" "" "" "F" "no" "China" "" "" "" "" "Chinese" "iw179" "00374522" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "R-0840" "00374542" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "R-0109" "00374634" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3365" "00374642" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2740" "00401517" "" "" "" "1" "" "02494" "" "" "M" "no" "Spain" "" "" "" "" "" "139P" "00401518" "" "" "" "1" "" "02494" "" "" "F" "no" "Spain" "" "" "" "" "" "245P" "00403858" "" "" "" "1" "" "00006" "{PMID:Froukh 2020:32056211}" "analysis 103 families with neurodevelopmental disorders" "" "" "Jordan" "" "0" "" "" "" "TF019" "00436382" "" "" "" "1" "" "01164" "" "" "M" "no" "? (unknown)" "" "0" "" "" "" "269345" "00440377" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED2382.1" "00440409" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED1478.2" "00440473" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED2773.1" "00442599" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "251282" "00444858" "" "" "" "1" "" "01164" "" "" "F" "no" "Portugal" "" "0" "" "" "" "101314" "00448182" "" "" "" "1" "" "00006" "{PMID:Poli 2024:38177409}" "" "M" "" "Chile" "" "0" "" "" "" "Pat27" "00455820" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "M" "" "" "" "0" "" "" "" "Pat60" "00458096" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00458836" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00465245" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00466177" "" "" "" "1" "" "03820" "" "" "F" "" "Brazil" "" "0" "" "" "" "" "00466403" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 179 "{{individualid}}" "{{diseaseid}}" "00037227" "00198" "00037228" "00198" "00037230" "00198" "00037231" "00198" "00037233" "00198" "00050495" "00198" "00050521" "00198" "00050538" "00198" "00101234" "00139" "00111400" "00742" "00112648" "00198" "00112649" "00742" "00112650" "00742" "00112651" "00742" "00112652" "00742" "00112653" "00742" "00112654" "00742" "00112655" "00742" "00112656" "00742" "00112657" "00742" "00112658" "00742" "00112659" "00742" "00112660" "00742" "00112661" "00742" "00112662" "00742" "00112663" "00742" "00112664" "00742" "00112665" "00742" "00112666" "00742" "00112667" "00742" "00112668" "00742" "00112669" "00742" "00112670" "00742" "00112671" "00742" "00112672" "00742" "00112673" "00742" "00112674" "00742" "00112675" "00742" "00112676" "00742" "00112677" "00742" "00112678" "00742" "00112679" "00742" "00112680" "00742" "00112681" "00742" "00112682" "00742" "00112683" "00742" "00112684" "00742" "00112685" "00742" "00112686" "00742" "00112687" "00742" "00112688" "00742" "00112689" "00742" "00112690" "00742" "00112691" "00742" "00112692" "00742" "00112693" "00742" "00112694" "00742" "00112695" "00742" "00112696" "00742" "00112697" "00742" "00112698" "00742" "00112699" "00742" "00112700" "00742" "00112701" "00742" "00112702" "00742" "00112703" "00742" "00112704" "00742" "00112705" "00230" "00112706" "00742" "00112707" "00742" "00112708" "00742" "00112709" "00742" "00112710" "00742" "00112711" "00742" "00112712" "00742" "00112713" "00742" "00112714" "00742" "00112715" "00742" "00112716" "00742" "00112717" "00742" "00112718" "00742" "00112719" "00742" "00112720" "00742" "00112721" "00742" "00112722" "00742" "00112723" "00742" "00112724" "00742" "00112725" "00742" "00112726" "00742" "00112727" "00742" "00112728" "00742" "00112729" "00742" "00112730" "00742" "00112731" "00742" "00112732" "00742" "00112733" "00742" "00112734" "00742" "00112735" "00742" "00112736" "00742" "00112737" "00742" "00112738" "00742" "00112739" "00742" "00112740" "00742" "00112741" "00742" "00112742" "00742" "00112743" "00742" "00112744" "00742" "00112745" "00742" "00112746" "00742" "00112747" "00742" "00112748" "00742" "00112749" "00230" "00112750" "00742" "00112751" "00742" "00112752" "00742" "00112753" "00742" "00112754" "00742" "00112755" "00742" "00112756" "00742" "00112757" "00742" "00112758" "00742" "00119146" "00139" "00119147" "00139" "00119148" "00139" "00119149" "00139" "00119150" "00139" "00119151" "00139" "00119152" "00139" "00119153" "00139" "00119154" "00139" "00119155" "00139" "00119156" "00139" "00119157" "00139" "00119158" "00139" "00119159" "00139" "00119160" "00139" "00155303" "04337" "00155304" "04337" "00155305" "04337" "00155306" "04337" "00155307" "04337" "00155308" "04337" "00155309" "04337" "00155310" "04337" "00183048" "00139" "00269882" "00198" "00276041" "00198" "00291983" "00198" "00291984" "00198" "00291985" "00198" "00295946" "00742" "00296380" "00198" "00296787" "00139" "00301673" "00198" "00302778" "00139" "00302885" "00139" "00307779" "00139" "00307780" "00139" "00373723" "00742" "00374522" "00198" "00374542" "00198" "00374634" "00198" "00374642" "00198" "00401517" "00139" "00401518" "00139" "00403858" "05611" "00436382" "00742" "00440377" "00198" "00440409" "00198" "00440473" "00198" "00442599" "00742" "00444858" "00742" "00448182" "00198" "00455820" "00198" "00458096" "05611" "00458836" "05611" "00465245" "00139" "00466177" "00742" "00466403" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00230, 00742, 04336, 04337, 05611 ## Count = 172 "{{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}}" "0000037107" "00198" "00050495" "00006" "Isolated (sporadic)" "" "polyhydramnios, congenital diaphragmatic hernia, abnormality of the esophagus, cerebral atrophy, bilateral single transverse palmar creases, epicanthus" "" "" "" "" "" "" "" "" "" "" "" "0000037133" "00198" "00050521" "00006" "Isolated (sporadic)" "" "microcephaly, global developmental delay, joint hypermobility, proportionate short stature, delayed speech and language development" "" "" "" "" "" "" "" "" "" "" "" "0000037150" "00198" "00050538" "00006" "Isolated (sporadic)" "" "microcephaly, muscular hypotonia, short philtrum, upslanted palpebral fissure" "" "" "" "" "" "" "" "" "" "" "" "0000079593" "00139" "00101234" "01864" "Isolated (sporadic)" "" "HP:0001999; HP:0001290; global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "" "" "0000087485" "00742" "00111400" "00729" "Isolated (sporadic)" "" "Hypotonia, developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000088130" "00198" "00112648" "01950" "Isolated (sporadic)" "" "see paper; ..., mild to moderate mental retardation (HP:0001249), minor facial anomalies (HP:0000271)" "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000088131" "00742" "00112649" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088132" "00742" "00112650" "00006" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088133" "00742" "00112651" "00006" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088134" "00742" "00112652" "00006" "Isolated (sporadic)" "" "severe developmental delay, dysmorphic features, limb anomalies, growth retardation, hypoplastic vermis and corpus callosum, no tachypnoea-apnoea paroxysms; severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088135" "00742" "00112653" "00006" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088136" "00742" "00112654" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088137" "00742" "00112655" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088138" "00742" "00112656" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088139" "00742" "00112657" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088140" "00742" "00112658" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088141" "00742" "00112659" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088142" "00742" "00112660" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088143" "00742" "00112661" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088144" "00742" "00112662" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088145" "00742" "00112663" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088146" "00742" "00112664" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088147" "00742" "00112665" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088148" "00742" "00112666" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088149" "00742" "00112667" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088150" "00742" "00112668" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088151" "00742" "00112669" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088152" "00742" "00112670" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088153" "00742" "00112671" "00006" "Isolated (sporadic)" "" "severe mental retardation, absent speech, pronounced muscular hypotonia, ataxia, distinctive facial features (coarse face, broad nasal bridge, wide mouth), hyperventilation attacks" "" "" "" "" "" "" "" "" "" "" "" "0000088154" "00742" "00112672" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088155" "00742" "00112673" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088156" "00742" "00112674" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088157" "00742" "00112675" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088158" "00742" "00112676" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088159" "00742" "00112677" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088160" "00742" "00112678" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088161" "00742" "00112679" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088162" "00742" "00112680" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088163" "00742" "00112681" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088164" "00742" "00112682" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088165" "00742" "00112683" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088166" "00742" "00112684" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088167" "00742" "00112685" "00006" "Isolated (sporadic)" "" "lymphoma; severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088168" "00742" "00112686" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088169" "00742" "00112687" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088170" "00742" "00112688" "00006" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088171" "00742" "00112689" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088172" "00742" "00112690" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088173" "00742" "00112691" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088174" "00742" "00112692" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088175" "00742" "00112693" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088176" "00742" "00112694" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088177" "00742" "00112695" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088178" "00742" "00112696" "00006" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088179" "00742" "00112697" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088180" "00742" "00112698" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088181" "00742" "00112699" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088182" "00742" "00112700" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088183" "00742" "00112701" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088184" "00742" "00112702" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088185" "00742" "00112703" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088186" "00742" "00112704" "01950" "Isolated (sporadic)" "" "severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088187" "00230" "00112705" "01950" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088188" "00742" "00112706" "00006" "Isolated (sporadic)" "" "constipation and unmotivated laughter episodes; severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088189" "00742" "00112707" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088190" "00742" "00112708" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088191" "00742" "00112709" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088192" "00742" "00112710" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088193" "00742" "00112711" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088194" "00742" "00112712" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088195" "00742" "00112713" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088196" "00742" "00112714" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088197" "00742" "00112715" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088198" "00742" "00112716" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088199" "00742" "00112717" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088200" "00742" "00112718" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088201" "00742" "00112719" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088202" "00742" "00112720" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088203" "00742" "00112721" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088204" "00742" "00112722" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088205" "00742" "00112723" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088206" "00742" "00112724" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088207" "00742" "00112725" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088208" "00742" "00112726" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088209" "00742" "00112727" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088210" "00742" "00112728" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088211" "00742" "00112729" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088212" "00742" "00112730" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088213" "00742" "00112731" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088214" "00742" "00112732" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088215" "00742" "00112733" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088216" "00742" "00112734" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088217" "00742" "00112735" "01950" "Familial, autosomal dominant" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088218" "00742" "00112736" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088219" "00742" "00112737" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088220" "00742" "00112738" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088221" "00742" "00112739" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088222" "00742" "00112740" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088223" "00742" "00112741" "00006" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088224" "00742" "00112742" "00006" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088225" "00742" "00112743" "00006" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088226" "00742" "00112744" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088227" "00742" "00112745" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088228" "00742" "00112746" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088229" "00742" "00112747" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088230" "00742" "00112748" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088231" "00230" "00112749" "01950" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088232" "00742" "00112750" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088233" "00742" "00112751" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088234" "00742" "00112752" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088235" "00742" "00112753" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088236" "00742" "00112754" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088237" "00742" "00112755" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088238" "00742" "00112756" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088239" "00742" "00112757" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000088240" "00742" "00112758" "01950" "Isolated (sporadic)" "" "Severe Mental_Retardation" "" "" "" "" "" "" "" "" "" "" "" "0000094145" "00139" "00119146" "01950" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Pitt-Hopkins syndrome (PTHS)" "intellectual disability" "" "0000094146" "00139" "00119147" "01950" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Pitt-Hopkins syndrome (PTHS)" "intellectual disability" "" "0000094147" "00139" "00119148" "01950" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Pitt-Hopkins syndrome (PTHS)" "intellectual disability" "" "0000094148" "00139" "00119149" "01950" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Pitt-Hopkins syndrome (PTHS)" "intellectual disability" "" "0000094149" "00139" "00119150" "01950" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Pitt-Hopkins syndrome (PTHS)" "intellectual disability" "" "0000094150" "00139" "00119151" "01950" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Pitt-Hopkins syndrome (PTHS)" "intellectual disability" "" "0000094151" "00139" "00119152" "01950" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Pitt-Hopkins syndrome (PTHS)" "intellectual disability" "" "0000094152" "00139" "00119153" "01950" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Pitt-Hopkins syndrome (PTHS)" "intellectual disability" "" "0000094153" "00139" "00119154" "01950" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Pitt-Hopkins syndrome (PTHS)" "intellectual disability" "" "0000094154" "00139" "00119155" "01950" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Pitt-Hopkins syndrome (PTHS)" "intellectual disability" "" "0000094155" "00139" "00119156" "01950" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Pitt-Hopkins syndrome (PTHS)" "intellectual disability" "" "0000094156" "00139" "00119157" "01950" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Pitt-Hopkins syndrome (PTHS)" "intellectual disability" "" "0000094157" "00139" "00119158" "01950" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Pitt-Hopkins syndrome (PTHS)" "intellectual disability" "" "0000094158" "00139" "00119159" "01950" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Pitt-Hopkins syndrome (PTHS)" "intellectual disability" "" "0000094159" "00139" "00119160" "01950" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Pitt-Hopkins syndrome (PTHS)" "intellectual disability" "" "0000127802" "04337" "00155303" "00006" "Familial, autosomal dominant" "" "see paper; ..., fully penetrant" "" "" "" "" "" "" "" "" "FECD-3" "dystrophy, corneal, Fuchs endothelial" "" "0000127803" "04337" "00155304" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "FECD-3" "dystrophy, corneal, Fuchs endothelial" "" "0000127804" "04337" "00155305" "00006" "Familial, autosomal dominant" "" "see paper; …" "" "" "" "" "" "" "" "" "FECD-3" "dystrophy, corneal, Fuchs endothelial" "" "0000127805" "04337" "00155306" "00006" "Familial, autosomal dominant" "" "see paper; …" "" "" "" "" "" "" "" "" "" "dystrophy, corneal, Fuchs endothelial (FECD)" "" "0000127806" "04337" "00155307" "00006" "Familial, autosomal dominant" "" "see paper; …" "" "" "" "" "" "" "" "" "FECD-3" "dystrophy, corneal, Fuchs endothelial" "" "0000127807" "04337" "00155308" "00006" "Familial, autosomal dominant" "" "see paper; …" "" "" "" "" "" "" "" "" "FECD-3" "dystrophy, corneal, Fuchs endothelial" "" "0000127808" "04337" "00155309" "00006" "Familial, autosomal dominant" "" "see paper; …" "" "" "" "" "" "" "" "" "FECD-3" "dystrophy, corneal, Fuchs endothelial" "" "0000127809" "04337" "00155310" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "FECD-3" "dystrophy, corneal, Fuchs endothelial" "" "0000143801" "00139" "00183048" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability (ID)" "" "0000156845" "00198" "00037227" "01164" "Unknown" "" "hypotonia" "" "" "" "" "" "" "" "" "" "hypotonia" "" "0000156846" "00198" "00037228" "01164" "Unknown" "" "developmental delay" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000156847" "00198" "00037230" "01164" "Unknown" "" "DD Pitt-Hopkins syndrome, Williams-Beuren syndrome, retardation syndrome with facial abnormalities,developmental delay, perinatal CMV-Infection, relapsing fever, epilepsy; MGZ 62155: developmental retardation; MGZ 76984: mikrocephaly, abnormal development, perinatal CMV-Infection, relapsing fever" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000156848" "00198" "00037231" "01164" "Unknown" "" "Rett syndrome-phenotype without MECP2-mutations" "" "" "" "" "" "" "" "" "" "Rett syndrome" "" "0000156849" "00198" "00037233" "01164" "Unknown" "" "no development of speech" "" "" "" "" "" "" "" "" "" "no speech" "" "0000207678" "00198" "00269882" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Hypertelorism (HP:0000316); Strabismus (HP:0000486); Sleep disturbance (HP:0002360); Inability to walk (HP:0002540)" "" "" "" "" "" "" "" "" "" "" "" "0000210597" "00198" "00276041" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Muscular hypotonia (HP:0001252); Microcephaly (HP:0000252); Hypotelorism (HP:0000601)" "" "" "" "" "" "" "" "" "" "" "" "0000223422" "00742" "00295946" "03446" "Isolated (sporadic)" "02y" "HP:0001511\r\nHP:0000341\r\nHP:0005338\r\nHP:0000431/HP:0000455\r\nHP:0000293/HP:0012371\r\nHP:0000154/HP:0012471/HP:\r\n0002263\r\nHP:0000391/0000396\r\nHP: 0010864\r\nHP:0001344\r\nHP:0009062\r\nHP:0002194\r\nHP:0007370\r\nHP:0000954" "" "06y" "" "" "" "" "" "" "" "" "" "0000223794" "00198" "00296380" "01164" "Unknown" "" "Increased nuchal translucency (HP:0010880); Abnormality of prenatal development or birth (HP:0001197); Abnormality of the nervous system (HP:0000707); Neurodevelopmental abnormality (HP:0012759)" "" "" "" "" "" "" "" "" "" "" "" "0000224186" "00139" "00296787" "00006" "Familial, autosomal dominant" "" "moderate intellectual disability" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000228774" "00198" "00301673" "01807" "Unknown" "" "Strabismus (HP:0000486); Global developmental delay (HP:0001263); Generalized hypotonia (HP:0001290); Absent speech (HP:0001344); Breathing dysregulation (HP:0005957); Intellectual disability, severe (HP:0010864); Delayed myelination (HP:0012448); Psychomotor retardation (HP:0025356)" "" "" "" "" "" "" "" "" "" "" "" "0000229860" "00139" "00302778" "00006" "Isolated (sporadic)" "5y" "severe intellectual disability; no speech; not walking; no epilepsy; no autistic features; no microcephaly; no macrocephaly; MRI brain ventriculomegaly and increased T2 signal in white matter, thin corpus callosum; hypotonic; no congenitial malformations; no cardiac malformations; no urogenitory abnormalities; no apneas, no hypoventilation" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000229963" "00139" "00302885" "00006" "Isolated (sporadic)" "" "see paper; ..., intellectual disability, autism, hyperventilation, bruxism, hand to mouth stereotypies, hand wringing" "" "" "" "" "" "" "" "" "" "intellectual disability, RETT-like syndrome" "" "0000268948" "00742" "00373723" "01864" "Familial, autosomal dominant" "" "HP:0001252; HP:0001249; HP:0001263; HP:0000750; HP:0012766" "" "" "" "" "" "" "" "" "Pitt-Hopkins syndrome (OMIM 610954)" "" "" "0000269732" "00198" "00374522" "00006" "Familial, autosomal dominant" "" "Developmental delay, poor cognition, coarse face, macrostomia, hand flapping movement, divergent squint and prominent upper lip" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000269752" "00198" "00374542" "00006" "Familial, autosomal recessive" "" "spastic diplegia, global developmental delay, gastro-esophageal reflux, esotropia and adducted thumbs" "" "" "" "" "" "" "" "" "" "spasticity" "" "0000269844" "00198" "00374634" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000269852" "00198" "00374642" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder, intellectual disability" "" "0000296538" "05611" "00403858" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000326562" "00742" "00436382" "01164" "Isolated (sporadic)" "01y" "Neurodevelopmental delay, Microcephaly, Abnormality of movement, Hypertonia, Pilonidal sinus, Strabismus, Epicanthus, Tented upper lip vermilion, Prominent nose" "" "" "" "" "" "" "" "" "" "" "" "0000330287" "00198" "00440377" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Pitt-Hopkins syndrome (MIM #610954)" "" "" "0000330319" "00198" "00440409" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Pitt-Hopkins syndrome (MIM #610954)" "" "" "0000330383" "00198" "00440473" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Pitt-Hopkins syndrome (MIM #610954)" "" "" "0000331950" "00742" "00442599" "01164" "Isolated (sporadic)" "07y" "Hypotonia, Intellectual disability, mild, Motor delay, Neurodevelopmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000334110" "00742" "00444858" "01164" "Isolated (sporadic)" "11y" "Intellectual disability, Absent speech, Abnormal repetitive mannerisms, Myopia, Seizure" "" "" "" "" "" "" "" "" "" "" "" "0000337392" "00198" "00448182" "00006" "Isolated (sporadic)" "10m" "developmental delay; macrocephaly; seizure; hypotonia; dysmorphic facial features; mother had 2 miscarriages/stillborn with anencephaly" "" "" "" "" "" "" "" "" "" "rare disorder" "" "0000344353" "00198" "00455820" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "PTHS" "neurogenetic diseases" "" "0000346543" "05611" "00458096" "03544" "Isolated (sporadic)" "" "HP:0007018, HP:0000750, HP:0001250, HP:0002342, HP:0000717" "" "" "" "" "" "" "" "" "PTHS" "complex neurodevelopmental disorder" "" "0000347266" "05611" "00458836" "03544" "Isolated (sporadic)" "" "HP:0001249, HP:0000717, HP:0000733, HP:0000750, HP:0001251, HP:0001252, HP:0001263, HP:0040082" "" "" "" "" "" "" "" "" "PTHS" "complex neurodevelopmental disorder" "" "0000350780" "00139" "00465245" "03544" "Isolated (sporadic)" "" "HP:0001249, HP:0004422, HP:0045075, HP:0000154, HP:0004482, HP:0001166, HP:0001357, HP:0001263" "" "" "" "" "" "" "" "" "PTHS" "complex neurodevelopmental disorder" "" "0000351564" "00742" "00466177" "03820" "Unknown" "" "Aphasia (HP:0002381), Microcephaly (HP:0000252)" "" "" "" "" "" "" "" "" "" "" "" "0000351767" "05611" "00466403" "03544" "Isolated (sporadic)" "" "HP:0001263, HP:0002376" "" "" "" "" "" "" "" "" "PTHS" "complex NDD" "" ## Screenings ## Do not remove or alter this header ## ## Count = 185 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000029" "00000029" "1" "00004" "" "2012-05-11 13:18:42" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000037294" "00037224" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037295" "00037225" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037296" "00037226" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037297" "00037227" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037298" "00037228" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037299" "00037229" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037300" "00037230" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037301" "00037231" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037302" "00037232" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037303" "00037233" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000050440" "00050495" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050466" "00050521" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050483" "00050538" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000101679" "00101234" "1" "01864" "01864" "2017-03-23 09:07:19" "" "" "SEQ-NG-I" "DNA" "" "" "0000111865" "00111400" "1" "00729" "00729" "2017-08-03 01:11:12" "" "" "SEQ-NG" "DNA" "" "" "0000113106" "00112648" "1" "01950" "01950" "2011-08-02 13:45:40" "00006" "2017-09-08 17:20:56" "FISH" "DNA" "" "" "0000113107" "00112649" "1" "01950" "01950" "2011-08-02 13:45:40" "00006" "2011-08-02 13:51:38" "SEQ" "DNA" "" "" "0000113108" "00112650" "1" 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13:51:18" "SEQ" "DNA" "" "" "0000113216" "00112758" "1" "01950" "01950" "2011-08-02 13:45:40" "00006" "2011-08-02 13:51:18" "SEQ" "DNA" "" "" "0000119615" "00119146" "1" "01950" "01950" "2017-09-06 17:17:06" "" "" "SEQ" "DNA" "" "" "0000119616" "00119147" "1" "01950" "01950" "2017-09-06 17:37:43" "" "" "SEQ" "DNA" "" "" "0000119617" "00119148" "1" "01950" "01950" "2017-09-06 18:39:48" "" "" "SEQ" "DNA" "" "" "0000119618" "00119149" "1" "01950" "01950" "2017-09-06 18:45:38" "" "" "SEQ" "DNA" "" "" "0000119619" "00119150" "1" "01950" "01950" "2017-09-06 18:50:32" "" "" "SEQ" "DNA" "" "" "0000119620" "00119151" "1" "01950" "01950" "2017-09-06 18:53:02" "" "" "SEQ" "DNA" "" "" "0000119621" "00119152" "1" "01950" "01950" "2017-09-06 18:54:32" "" "" "SEQ" "DNA" "" "" "0000119622" "00119153" "1" "01950" "01950" "2017-09-06 18:56:12" "" "" "SEQ" "DNA" "" "" "0000119623" "00119154" "1" "01950" "01950" "2017-09-06 20:14:47" "" "" "SEQ" "DNA" "" "" "0000119624" "00119155" "1" "01950" "01950" "2017-09-06 20:18:15" "" "" "SEQ" "DNA" "" "" "0000119625" "00119156" "1" "01950" "01950" "2017-09-06 20:20:32" "" "" "SEQ" "DNA" "" "" "0000119626" "00119157" "1" "01950" "01950" "2017-09-06 20:24:54" "" "" "SEQ" "DNA" "" "" "0000119627" "00119158" "1" "01950" "01950" "2017-09-06 20:30:12" "" "" "SEQ" "DNA" "" "" "0000119628" "00119159" "1" "01950" "01950" "2017-09-06 20:34:49" "" "" "SEQ" "DNA" "" "" "0000119629" "00119160" "1" "01950" "01950" "2017-09-06 20:37:38" "" "" "SEQ" "DNA" "" "" "0000156167" "00155303" "1" "00006" "00006" "2018-03-23 09:22:48" "00006" "2018-03-23 09:40:43" "PCRrp" "DNA" "" "" "0000156168" "00155304" "1" "00006" "00006" "2018-03-23 09:45:14" "" "" "PCRrp" "DNA" "" "" "0000156169" "00155305" "1" "00006" "00006" "2018-03-23 10:03:06" "" "" "PCRrp" "DNA" "" "" "0000156170" "00155306" "1" "00006" "00006" "2018-03-23 10:03:06" "" "" "PCRrp" "DNA" "" "" "0000156171" "00155307" "1" "00006" "00006" "2018-03-23 10:15:07" "" "" "PCRrp" "DNA" "" "" "0000156172" "00155308" "1" "00006" "00006" "2018-03-23 10:15:07" "" "" "PCRrp" "DNA" "" "" "0000156173" "00155309" "1" "00006" "00006" "2018-03-23 10:19:58" "" "" "PCRrp" "DNA" "" "" "0000156174" "00155310" "1" "00006" "00006" "2018-03-23 10:31:08" "" "" "PCRrp" "DNA" "" "" "0000184008" "00183048" "1" "00006" "00006" "2018-10-12 16:28:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000271035" "00269882" "1" "01807" "01807" "2019-12-10 12:31:31" "" "" "SEQ" "DNA" "" "" "0000277188" "00276041" "1" "01807" "01807" "2020-01-24 11:02:42" "" "" "SEQ" "DNA" "" "" "0000293151" "00291983" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293152" "00291984" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293153" "00291985" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297118" "00295946" "1" "03446" "03446" "2020-03-30 12:00:14" "00006" "2020-04-01 03:36:41" "RT-PCR;SEQ;SEQ-NG-I" "DNA;RNA" "blood" "" "0000297491" "00296380" "1" "01164" "01164" "2020-04-06 09:47:39" "" "" "SEQ-NG-S" "DNA" "" "" "0000297897" "00296787" "1" "00006" "00006" "2020-04-13 12:27:32" "" "" "SEQ;SEQ-NG" "DNA" "" "242-gene ID panel" "0000302798" "00301673" "1" "01807" "01807" "2020-05-20 08:56:01" "" "" "SEQ" "DNA" "" "" "0000303904" "00302778" "1" "00006" "00006" "2020-06-01 10:33:11" "" "" "SEQ-NG" "DNA" "" "WES" "0000304011" "00302885" "1" "00006" "00006" "2020-06-02 21:28:09" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA" "" "WES" "0000308919" "00307779" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000308920" "00307780" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000374956" "00373723" "1" "01864" "01864" "2021-05-19 08:23:21" "" "" "SEQ-NG" "DNA" "blood" "WGS" "0000375716" "00374522" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375736" "00374542" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375828" "00374634" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375836" "00374642" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000402761" "00401517" "1" "02494" "02494" "2022-01-31 14:14:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000402762" "00401518" "1" "02494" "02494" "2022-01-31 14:19:41" "" "" "SEQ-NG" "DNA" "" "WES" "0000405096" "00403858" "1" "00006" "00006" "2022-02-24 16:43:58" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000437865" "00436382" "1" "01164" "01164" "2023-09-05 15:27:07" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000441862" "00440377" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000441894" "00440409" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000441958" "00440473" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444084" "00442599" "1" "01164" "01164" "2023-11-20 15:04:13" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000446427" "00444858" "1" "01164" "01164" "2023-12-28 11:33:10" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000449757" "00448182" "1" "00006" "00006" "2024-02-22 17:47:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000457436" "00455820" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000459714" "00458096" "1" "03544" "03544" "2024-11-29 10:12:20" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000460457" "00458836" "1" "03544" "03544" "2024-12-21 09:36:21" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000466895" "00465245" "1" "03544" "03544" "2025-04-27 15:14:53" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000467835" "00466177" "1" "03820" "03820" "2025-08-06 15:03:42" "" "" "SEQ-NG" "DNA" "blood" "" "0000468066" "00466403" "1" "03544" "03544" "2025-08-27 12:59:39" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 192 "{{screeningid}}" "{{geneid}}" "0000000029" "ALG9" "0000000029" "ASPM" "0000000029" "B3GLCT" "0000000029" "BBS1" "0000000029" "CBS" "0000000029" "CC2D1A" "0000000029" "CDK5RAP2" "0000000029" "DLG3" "0000000029" "DNMT3B" "0000000029" "DPM1" "0000000029" "DPP3" "0000000029" "GLI3" "0000000029" "JAG1" "0000000029" "KRAS" "0000000029" "MECP2" "0000000029" "MPDU1" "0000000029" "NLGN4X" "0000000029" "NSD1" "0000000029" "PHF8" "0000000029" "PMM2" "0000000029" "RAI1" "0000000029" "REST" "0000000029" "SATB2" "0000000029" "SCN8A" "0000000029" "SHANK3" "0000000029" "SLC35C1" "0000000029" "TCF4" "0000000029" "TSC1" "0000000029" "UPF3B" "0000000029" "ZEB2" "0000000029" "ZNF41" "0000037294" "TCF4" "0000037295" "TCF4" "0000037296" "TCF4" "0000037297" "TCF4" "0000037298" "TCF4" "0000037299" "TCF4" "0000037300" "TCF4" "0000037301" "TCF4" "0000037302" "TCF4" "0000037303" "TCF4" "0000050440" "TCF4" "0000050466" "TCF4" "0000111865" "TCF4" "0000113106" "CHD6" "0000113106" "TCF4" "0000113107" "TCF4" "0000113108" "TCF4" "0000113109" "TCF4" "0000113110" "TCF4" "0000113111" "TCF4" "0000113112" "TCF4" "0000113113" "TCF4" "0000113114" "TCF4" "0000113115" "TCF4" "0000113116" "TCF4" "0000113117" "TCF4" "0000113118" "TCF4" "0000113119" "TCF4" "0000113120" "TCF4" "0000113121" "TCF4" "0000113122" "TCF4" "0000113123" "TCF4" "0000113124" "TCF4" "0000113125" "TCF4" "0000113126" "TCF4" "0000113127" "TCF4" "0000113128" "TCF4" "0000113129" "TCF4" "0000113130" "TCF4" "0000113131" "TCF4" "0000113132" "TCF4" "0000113133" "TCF4" "0000113134" "TCF4" "0000113135" "TCF4" "0000113136" "TCF4" "0000113137" "TCF4" "0000113138" "TCF4" "0000113139" "TCF4" "0000113140" "TCF4" "0000113141" "TCF4" "0000113142" "TCF4" "0000113143" "TCF4" "0000113144" "TCF4" "0000113145" "TCF4" "0000113146" "TCF4" "0000113147" "TCF4" "0000113148" "TCF4" "0000113149" "TCF4" "0000113150" "TCF4" "0000113151" "TCF4" "0000113152" "TCF4" "0000113153" "TCF4" "0000113154" "TCF4" "0000113155" "TCF4" "0000113156" "TCF4" "0000113157" "TCF4" "0000113158" "TCF4" "0000113159" "TCF4" "0000113160" "TCF4" "0000113161" "TCF4" "0000113162" "TCF4" "0000113163" "TCF4" "0000113164" "TCF4" "0000113165" "TCF4" "0000113166" "TCF4" "0000113167" "TCF4" "0000113168" "TCF4" "0000113169" "TCF4" "0000113170" "TCF4" "0000113171" "TCF4" "0000113172" "TCF4" "0000113173" "TCF4" "0000113174" "TCF4" "0000113175" "TCF4" "0000113176" "TCF4" "0000113177" "TCF4" "0000113178" "TCF4" "0000113179" "TCF4" "0000113180" "TCF4" "0000113181" "TCF4" "0000113182" "TCF4" "0000113183" "TCF4" "0000113184" "TCF4" "0000113185" "TCF4" "0000113186" "TCF4" "0000113187" "TCF4" "0000113188" "TCF4" "0000113189" "TCF4" "0000113190" "TCF4" "0000113191" "TCF4" "0000113192" "TCF4" "0000113193" "TCF4" "0000113194" "TCF4" "0000113195" "TCF4" "0000113196" "TCF4" "0000113197" "TCF4" "0000113198" "TCF4" "0000113199" "TCF4" "0000113200" "TCF4" "0000113201" "TCF4" "0000113202" "TCF4" "0000113203" "TCF4" "0000113204" "TCF4" "0000113205" "TCF4" "0000113206" "TCF4" "0000113207" "TCF4" "0000113208" "TCF4" "0000113209" "TCF4" "0000113210" "TCF4" "0000113211" "TCF4" "0000113212" "TCF4" "0000113213" "TCF4" "0000113214" "TCF4" "0000113215" "TCF4" "0000113216" "TCF4" "0000119615" "TCF4" "0000119616" "TCF4" "0000119617" "TCF4" "0000119618" "TCF4" "0000119619" "TCF4" "0000119620" "TCF4" "0000119621" "TCF4" "0000119622" "TCF4" "0000119623" "TCF4" "0000119624" "TCF4" "0000119625" "TCF4" "0000119626" "TCF4" "0000119627" "TCF4" "0000119628" "TCF4" "0000119629" "TCF4" "0000156167" "TCF4" "0000156168" "TCF4" "0000156169" "TCF4" "0000156170" "TCF4" "0000156171" "TCF4" "0000156172" "TCF4" "0000156173" "TCF4" "0000156174" "TCF4" "0000297897" "TCF4" "0000303904" "TCF4" "0000304011" "TCF4" "0000308919" "TCF4" "0000308920" "TCF4" "0000374956" "TCF4" "0000375716" "TCF4" "0000375736" "CYB5R3" "0000375828" "TCF4" "0000375836" "ACSL4" "0000437865" "TCF4" "0000444084" "TCF4" "0000446427" "TCF4" ## 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 = 313 "{{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}}" "0000000681" "1" "50" "18" "53131488" "53131488" "subst" "0" "00002" "TCF4_000081" "g.53131488C>A" "" "{PMID:Almomani 2011:21102627} {dbSNP:3760600}" "" "" "" "Germline" "" "" "" "" "" "g.55464257C>A" "" "VUS" "" "0000064419" "1" "10" "18" "52928807" "52928807" "subst" "0.0221874" "01164" "TCF4_000088" "g.52928807C>T" "" "" "" "" "" "Germline" "" "rs35918540" "0" "" "" "g.55261576C>T" "" "benign" "" "0000064420" "1" "50" "18" "52928658" "52928660" "del" "0" "01164" "TCF4_000087" "g.52928658_52928660del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.55261427_55261429del" "" "VUS" "" "0000064421" "1" "10" "18" "52895023" "52895023" "subst" "0" "01164" "TCF4_000083" "g.52895023G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.55227792G>T" "" "benign" "" "0000064422" "1" "50" "18" "52896125" "52896125" "subst" "0" "01164" "TCF4_000084" "g.52896125A>G" "" "" "" "" "Polyphen-2: PSIC: 0,999-probably damaging" "Germline" "" "" "0" "" "" "g.55228894A>G" "" "VUS" "" "0000064423" "1" "50" "18" "53070650" "53070650" "subst" "9.35819E-5" "01164" "TCF4_000089" "g.53070650C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.55403419C>T" "" "VUS" "" "0000064424" "1" "50" "18" "52894730" "52894730" "dup" "0" "01164" "TCF4_000082" "g.52894730dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.55227499dup" "" "VUS" "" "0000064425" "1" "10" "18" "53131213" "53131213" "subst" "0" "01164" "TCF4_000090" "g.53131213G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.55463982G>C" "" "benign" "" "0000064426" "1" "90" "18" "52921925" "52921925" "subst" "0" "01164" "TCF4_000003" "g.52921925G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.55254694G>A" "" "pathogenic" "" "0000064427" "1" "50" "18" "52928655" "52928655" "subst" "0.000573819" "01164" "TCF4_000086" "g.52928655T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.55261424T>A" "" "VUS" "" "0000064428" "1" "50" "18" "53017695" "53017695" "subst" "0" "01164" "TCF4_000091" "g.53017695T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.55350464T>C" "" "VUS" "" "0000079420" "0" "90" "18" "52899819" "52899819" "subst" "0" "00006" "TCF4_000038" "g.52899819G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.55232588G>A" "" "pathogenic" "" "0000079669" "0" "90" "18" "52895593" "52895593" "subst" "0" "00006" "TCF4_000093" "g.52895593C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "splice variant" "De novo" "" "" "0" "" "" "g.55228362C>T" "" "pathogenic" "" "0000079672" "0" "90" "18" "48362664" "78015180" "del" "0" "00006" "ATP8B1_000025" "g.48362664_78015180del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, hemizygous in 0.46 cells" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000164577" "0" "90" "18" "52927178" "52927178" "subst" "0" "01864" "TCF4_000099" "g.52927178A>C" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.55259947A>C" "" "pathogenic" "" "0000179023" "0" "90" "18" "52928697" "52928697" "subst" "0" "00729" "TCF4_000098" "g.52928697C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.55261466C>T" "" "pathogenic" "ACMG" "0000181947" "1" "90" "18" "0" "0" "" "0" "01950" "TCF4_000000" "g.(53131369_53252510)_qterdelins[NC_000020.10:g.(40180000_40246978)_qter]" "" "{PMID:Kalscheuer 2008:18627065}" "" "TCF4-CHD6 fusion" "fusion transcript TCF4::CHD6 ?" "De novo" "" "" "0" "" "t(18;20)(q21.1;q11.2)" "" "" "pathogenic" "" "0000181948" "1" "90" "18" "0" "0" "" "0" "01950" "TCF4_000000" "g.?" "" "{PMID:Marangi 2011:21671391}" "" "t(14;18)(q13.1;q21.2)" "translocation chromosomes 14;20" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000181949" "1" "90" "18" "0" "0" "" "0" "00006" "TCF4_000000" "g.?" "" "{PMID:Amiel 2007:17436254}" "" "del RP11-397A16" "1.8 Mb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000181950" "1" "90" "18" "0" "0" "" "0" "00006" "TCF4_000000" "g.?" "" "{PMID:Zweier 2007:17436255}; {PMID:Peippo 2006:16531728}" "" "g.50552638_517423685" "1.2 Mb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000181951" "1" "90" "18" "0" "0" "" "0" "00006" "TCF4_000000" "g.?" "" "{PMID:Andrieux 2008:18222743}" "" "" "6.2 Mb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000181952" "1" "90" "18" "0" "0" "" "0" "00006" "TCF4_000000" "g.?" "" "Gustavsson" "" "del 18q21.1-q22.3" ">13 Mb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000181953" "1" "90" "18" "38400000" "50200000" "" "0" "01950" "TCF4_000000" "g.(38100000_38400000)_(50200000_57600000)del" "" "{PMID:Giurgea 2008:18781613}" "" "" ">10 Mb deletion" "De novo" "" "" "0" "" "18q21.1-q22.1del" "" "" "pathogenic" "" "0000181954" "1" "90" "18" "51994667" "58706460" "" "0" "01950" "TCF4_000009" "g.(51000000_51994667)_(58706460_59000000)del" "" "{PMID:Giurgea 2008:18781613}" "" "hg18? g.50248665_56248665" "6.6 Mb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000181955" "1" "90" "18" "47318499" "59320932" "" "0" "01950" "TCF4_000015" "g.(47000000_47318499)_(59320932_60000000)del" "" "{PMID:Giurgea 2008:18781613}" "" "hg18? g.45572497_57471912" "11.89 Mb deletion; somatic 0.80 metaphases lymphocytes and fibroblasts" "Somatic" "" "" "0" "" "18q21.1-q22.1del" "" "" "pathogenic" "" "0000181956" "1" "90" "18" "52895125" "62258013" "" "0" "01950" "TCF4_000016" "g.(52000000_52895125)_(62258013_63000000)del" "" "{PMID:Giurgea 2008:18781613}" "" "hg18? g.51046123-60408993del" "9.36 Mb deletion" "De novo" "" "" "0" "" "18q21.2-q22.1del" "" "" "pathogenic" "" "0000181957" "1" "90" "18" "0" "0" "" "0" "01950" "TCF4_000000" "g.?" "" "{PMID:De Pontual 2008:19235238}" "" "" "large deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000181958" "1" "90" "18" "0" "0" "" "0" "01950" "TCF4_000000" "g.?" "" "{PMID:De Pontual 2008:19235238}" "" "" "large deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000181959" "1" "90" "18" "0" "0" "" "0" "01950" "TCF4_000000" "g.?" "" "{PMID:De Pontual 2008:19235238}" "" "" "large deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000181960" "1" "90" "18" "0" "0" "" "0" "01950" "TCF4_000000" "g.?" "" "{PMID:Kato 2010:19813260}" "" "del(18)(q21.2q21.33)" "large deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000181961" "1" "90" "18" "0" "0" "" "0" "01950" "TCF4_000000" "g.?" "" "{PMID:Marangi 2011:21671391}" "" "" "del 11 Mb" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000181962" "1" "90" "18" "0" "0" "" "0" "01950" "TCF4_000000" "g.?" "" "{PMID:Marangi 2011:21671391}" "" "" "del 8.3 Mb" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000181963" "1" "90" "18" "0" "0" "" "0" "01950" "TCF4_000000" "g.?" "" "" "" "large del" "large deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000181964" "1" "90" "18" "0" "0" "" "0" "01950" "TCF4_000000" "g.?" "" "" "" "large del" "large deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000181965" "1" "90" "18" "0" "0" "" "0" "01950" "TCF4_000000" "g.?" "" "" "" "large del" "large deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000181966" "1" "90" "18" "0" "0" "" "0" "01950" "TCF4_000000" "g.?" "" "" "" "large del" "large deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000181967" "1" "90" "18" "0" "0" "" "0" "01950" "TCF4_000000" "g.?" "" "{PMID:Rosenfeld 2009:19938247}" "" "" "del 2.4 Mb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000181968" "1" "90" "18" "0" "0" "" "0" "01950" "TCF4_000000" "g.?" "" "{PMID:Rosenfeld 2009:19938247}" "" "" "del 2.9 Mb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000181969" "1" "90" "18" "0" "0" "" "0" "01950" "TCF4_000000" "g.?" "" "{PMID:Rosenfeld 2009:19938247}" "" "" "del 6.1 Mb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000181970" "1" "90" "18" "0" "0" "" "0" "00006" "TCF4_000008" "g.?" "" "{PMID:Brockschmidt 2007:17478476}" "" "del ex1-10" "0.5 Mb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000181971" "1" "90" "18" "53070685" "53131368" "del" "0" "01950" "TCF4_000068" "g.53070685_53131368del" "" "" "" "del ex4-6" "159 Kb deletion\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "g.55403454_55464137del" "" "pathogenic" "" "0000181972" "1" "90" "18" "53017590" "53070749" "del" "0" "01950" "TCF4_000069" "g.53017590_53070749del" "" "" "" "del ex6-8" "Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "g.55350359_55403518del" "" "pathogenic" "" "0000181973" "1" "90" "18" "53017590" "53070749" "del" "0" "01950" "TCF4_000069" "g.53017590_53070749del" "" "" "" "del ex6-8" "Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "g.55350359_55403518del" "" "pathogenic" "" "0000181974" "1" "90" "18" "53017590" "53070749" "del" "0" "01950" "TCF4_000069" "g.53017590_53070749del" "" "{PMID:Rosenfeld 2009:19938247}" "" "del ex6-8" "101 Kb deletion\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "g.55350359_55403518del" "" "pathogenic" "" "0000181975" "1" "90" "18" "53018135" "53018135" "subst" "0" "01950" "TCF4_000022" "g.53018135G>A" "" "{PMID:Zweier 2008:18728071}" "" "" "" "De novo" "" "" "0" "" "" "g.55350904G>A" "" "pathogenic" "" "0000181976" "1" "90" "18" "53017626" "53017629" "del" "0" "01950" "TCF4_000047" "g.53017626_53017629del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.55350395_55350398del" "" "pathogenic" "" "0000181977" "1" "90" "18" "53017619" "53017619" "subst" "0" "01950" "TCF4_000023" "g.53017619G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.55350388G>A" "" "pathogenic" "" "0000181978" "1" "90" "18" "52946888" "52946888" "subst" "0" "01950" "TCF4_000077" "g.52946888C>G" "" "{PMID:Marangi 2011:21671391}" "" "" "" "De novo" "" "" "0" "" "" "g.55279657C>G" "" "pathogenic" "" "0000181979" "1" "90" "18" "52946782" "52946887" "del" "0" "01950" "TCF4_000070" "g.52946782_52946887del" "" "" "" "del ex9" "Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "g.55279551_55279656del" "" "pathogenic" "" "0000181980" "1" "90" "18" "52921728" "52946887" "del" "0" "01950" "TCF4_000071" "g.52921728_52946887del" "" "{PMID:Rosenfeld 2009:19938247}" "" "del ex9-15" "64 Kb deletion\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "g.55254497_55279656del" "" "pathogenic" "" "0000181981" "1" "90" "18" "52899740" "52946887" "del" "0" "01950" "TCF4_000072" "g.52899740_52946887del" "" "{PMID:Rosenfeld 2009:19938247}" "" "del ex9-17" "76 Kb deletion\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "g.55232509_55279656del" "" "pathogenic" "" "0000181982" "1" "90" "18" "52889562" "52946887" "del" "0" "01950" "TCF4_000073" "g.52889562_52946887del" "" "{PMID:Rosenfeld 2009:19938247}" "" "del ex9-20" "63 Kb deletion\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "g.55222331_55279656del" "" "pathogenic" "" "0000181983" "1" "90" "18" "52946780" "52946781" "dup" "0" "01950" "TCF4_000078" "g.52946780_52946781dup" "" "{PMID:Zweier 2008:18728071}" "" "IVS9+2insGT" "" "De novo" "" "" "0" "" "" "g.55279549_55279550dup" "" "pathogenic" "" "0000181984" "1" "90" "18" "52942984" "52942984" "subst" "0" "00006" "TCF4_000004" "g.52942984C>G" "" "{PMID:Zweier 2007:17436255}; {PMID:Peippo 2006:16531728}; {OMIM602272:00004}" "" "IVS9-1G>C" "not in 360 control chromosomes" "De novo" "" "" "0" "" "" "g.55275753C>G" "" "pathogenic" "" "0000181985" "1" "90" "18" "52896078" "52942983" "del" "0" "01950" "TCF4_000067" "g.52896078_52942983del" "" "{PMID:Lehalle 2011:21671383}" "" "del ex10-18" "Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "g.55228847_55275752del" "" "pathogenic" "" "0000181986" "1" "90" "18" "52942953" "52942953" "del" "0" "01950" "TCF4_000013" "g.52942953del" "" "{PMID:Giurgea 2008:18781613}" "" "" "" "De novo" "" "" "0" "" "" "g.55275722del" "" "pathogenic" "" "0000181987" "1" "90" "18" "52942946" "52942946" "dup" "0" "00006" "TCF4_000006" "g.52942946dup" "" "{PMID:Zweier 2007:17436255}; {PMID:Peippo 2006:16531728}" "" "692-694insT" "" "De novo" "" "" "0" "" "" "g.55275715dup" "" "pathogenic" "" "0000181988" "1" "90" "18" "52942853" "52942853" "del" "0" "01950" "TCF4_000014" "g.52942853del" "" "{PMID:Giurgea 2008:18781613}" "" "" "" "De novo" "" "" "0" "" "" "g.55275622del" "" "pathogenic" "" "0000181989" "1" "90" "18" "52937193" "52937193" "del" "0" "01950" "TCF4_000049" "g.52937193del" "" "{PMID:Zweier 2008:18728071}" "" "" "" "De novo" "" "" "0" "" "" "g.55269962del" "" "pathogenic" "" "0000181990" "1" "90" "18" "52937076" "52937076" "del" "0" "01950" "TCF4_000063" "g.52937076del" "" "{PMID:Zweier 2008:18728071}" "" "" "" "De novo" "" "" "0" "" "" "g.55269845del" "" "pathogenic" "" "0000181991" "1" "90" "18" "52928766" "52928766" "subst" "0" "01950" "TCF4_000074" "g.52928766T>C" "" "{PMID:De Pontual 2008:19235238}" "" "923-2A>G" "" "De novo" "" "" "0" "" "" "g.55261535T>C" "" "pathogenic" "" "0000181992" "1" "90" "18" "52928759" "52928759" "dup" "0" "01950" "TCF4_000024" "g.52928759dup" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.55261528dup" "" "pathogenic" "" "0000181993" "1" "90" "18" "52928750" "52928750" "del" "0" "01950" "TCF4_000018" "g.52928750del" "" "{PMID:Zweier 2008:18728071}" "" "937-940delG" "" "De novo" "" "" "0" "" "" "g.55261519del" "" "pathogenic" "" "0000181994" "1" "90" "18" "52928738" "52928738" "del" "0" "01950" "TCF4_000050" "g.52928738del" "" "{PMID:Zweier 2008:18728071}" "" "" "" "De novo" "" "" "0" "" "" "g.55261507del" "" "pathogenic" "" "0000181995" "1" "90" "18" "52928718" "52928722" "del" "0" "00006" "TCF4_000007" "g.52928718_52928722del" "" "{PMID:Zweier 2007:17436255}; {PMID:Peippo 2006:16531728}" "" "965-969delATGCT" "" "De novo" "" "" "0" "" "" "g.55261487_55261491del" "" "pathogenic" "" "0000181996" "1" "90" "18" "52928698" "52928699" "del" "0" "01950" "TCF4_000051" "g.52928698_52928699del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.55261467_55261468del" "" "pathogenic" "" "0000181997" "1" "90" "18" "52927231" "52927231" "del" "0" "01950" "TCF4_000010" "g.52927231del" "" "{PMID:Giurgea 2008:18781613}" "" "" "" "De novo" "" "" "0" "" "" "g.55260000del" "" "pathogenic" "" "0000181998" "1" "90" "18" "52924619" "52924619" "subst" "0" "01950" "TCF4_000043" "g.52924619C>A" "" "{PMID:Zweier 2008:18728071}" "" "" "site d\'epissage GT" "De novo" "" "" "0" "" "" "g.55257388C>A" "" "pathogenic" "" "0000181999" "1" "90" "18" "52924615" "52924615" "del" "0" "01950" "TCF4_000019" "g.52924615del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.55257384del" "" "pathogenic" "" "0000182000" "1" "90" "18" "52924579" "52924579" "del" "0" "01950" "TCF4_000052" "g.52924579del" "" "" "" "1113delG (Ser372Leu)" "" "De novo" "" "" "0" "" "" "g.55257348del" "" "pathogenic" "" "0000182001" "1" "90" "18" "52924550" "52924550" "del" "0" "01950" "TCF4_000011" "g.52924550del" "" "{PMID:Giurgea 2008:18781613}" "" "" "" "De novo" "" "" "0" "" "" "g.55257319del" "" "pathogenic" "" "0000182002" "1" "90" "18" "52924545" "52924545" "subst" "0" "01950" "TCF4_000075" "g.52924545C>T" "" "{PMID:De Pontual 2008:19235238}" "" "" "" "De novo" "" "" "0" "" "" "g.55257314C>T" "" "pathogenic" "" "0000182003" "1" "90" "18" "52924543" "52924543" "subst" "0" "01950" "TCF4_000066" "g.52924543T>C" "" "{PMID:Zweier 2008:18728071}" "" "IVS14+3A>G" "" "De novo" "" "" "0" "" "" "g.55257312T>C" "" "pathogenic" "" "0000182004" "1" "90" "18" "52921927" "52921927" "del" "0" "01950" "TCF4_000053" "g.52921927del" "" "{PMID:Takano 2010:20184619}" "" "" "" "De novo" "" "" "0" "" "" "g.55254696del" "" "pathogenic" "" "0000182005" "1" "90" "18" "52921925" "52921925" "subst" "0" "00006" "TCF4_000003" "g.52921925G>A" "" "{PMID:Zweier 2007:17436255}; {PMID:Peippo 2006:16531728}" "" "1153C>T" "not in 360 control chromosomes" "De novo" "" "" "0" "" "" "g.55254694G>A" "" "pathogenic" "" "0000182006" "1" "90" "18" "52921841" "52921841" "del" "0" "01950" "TCF4_000044" "g.52921841del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.55254610del" "" "pathogenic" "" "0000182007" "1" "90" "18" "52921838" "52921838" "del" "0" "01950" "TCF4_000045" "g.52921838del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.55254607del" "" "pathogenic" "" "0000182008" "1" "90" "18" "52921750" "52921750" "subst" "0" "01950" "TCF4_000054" "g.52921750G>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.55254519G>C" "" "pathogenic" "" "0000182009" "1" "90" "18" "52921750" "52921750" "subst" "0" "01950" "TCF4_000054" "g.52921750G>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.55254519G>C" "" "pathogenic" "" "0000182010" "1" "90" "18" "52921735" "52921735" "subst" "0" "01950" "TCF4_000055" "g.52921735G>C" "" "{PMID:Marangi 2011:21671391}" "" "" "" "De novo" "" "" "0" "" "" "g.55254504G>C" "" "pathogenic" "" "0000182011" "1" "90" "18" "52901852" "52901852" "del" "0" "01950" "TCF4_000064" "g.52901852del" "" "{PMID:Zweier 2008:18728071}" "" "1413-1414delG" "" "De novo" "" "" "0" "" "" "g.55234621del" "" "pathogenic" "" "0000182012" "1" "90" "18" "52901827" "52901827" "subst" "0" "01950" "TCF4_000036" "g.52901827G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.55234596G>A" "" "pathogenic" "" "0000182013" "1" "90" "18" "52901816" "52901816" "del" "0" "01950" "TCF4_000056" "g.52901816del" "" "{PMID:Marangi 2011:21671391}" "" "" "" "De novo" "" "" "0" "" "" "g.55234585del" "" "pathogenic" "" "0000182014" "1" "90" "18" "52901797" "52901797" "del" "0" "01950" "TCF4_000037" "g.52901797del" "" "{PMID:Zweier 2008:18728071}" "" "1468-1471delc" "" "De novo" "" "" "0" "" "" "g.55234566del" "" "pathogenic" "" "0000182015" "1" "90" "18" "52901793" "52901793" "dup" "0" "01950" "TCF4_000034" "g.52901793dup" "" "{PMID:De Pontual 2008:19235238}" "" "1472_1473insA" "" "De novo" "" "" "0" "" "" "g.55234562dup" "" "pathogenic" "" "0000182016" "1" "90" "18" "52901782" "52901782" "subst" "0" "01950" "TCF4_000025" "g.52901782T>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.55234551T>A" "" "pathogenic" "" "0000182017" "1" "90" "18" "52901777" "52901780" "del" "0" "01950" "TCF4_000065" "g.52901777_52901780del" "" "{PMID:Lehalle 2011:21671383}" "" "1486+3del4" "111 Kb deletion exons 10-18" "De novo" "" "" "0" "" "" "g.55234546_55234549del" "" "pathogenic" "" "0000182018" "1" "90" "18" "52899891" "52899891" "subst" "0" "01950" "TCF4_000046" "g.52899891C>A" "" "{PMID:De Pontual 2008:19235238}" "" "1498G>T" "" "De novo" "" "" "0" "" "" "g.55232660C>A" "" "pathogenic" "" "0000182019" "1" "90" "18" "52899878" "52899878" "dup" "0" "01950" "TCF4_000079" "g.52899878dup" "" "{PMID:Zweier 2008:18728071}" "" "1512insA" "" "De novo" "" "" "0" "" "" "g.55232647dup" "" "pathogenic" "" "0000182020" "1" "90" "18" "52899869" "52899874" "delins" "0" "01950" "TCF4_000057" "g.52899869_52899874delinsATCAAAT" "" "{PMID:Marangi 2011:21671391}" "" "" "" "De novo" "" "" "0" "" "" "g.55232638_55232643delinsATCAAAT" "" "pathogenic" "" "0000182021" "1" "90" "18" "52899871" "52899871" "del" "0" "01950" "TCF4_000059" "g.52899871del" "" "{PMID:Zweier 2008:18728071}" "" "" "" "De novo" "" "" "0" "" "" "g.55232640del" "" "pathogenic" "" "0000182022" "1" "90" "18" "52899870" "52899871" "ins" "0" "01950" "TCF4_000060" "g.52899870_52899871insAC" "" "{PMID:Marangi 2011:21671391}" "BseRI-" "" "" "De novo" "" "" "0" "" "" "g.55232639_55232640insAC" "" "pathogenic" "" "0000182023" "1" "90" "18" "52899869" "52899869" "dup" "0" "01950" "TCF4_000061" "g.52899869dup" "" "{PMID:De Pontual 2008:19235238}" "" "1521_1522insC" "" "De novo" "" "" "0" "" "" "g.55232638dup" "" "pathogenic" "" "0000182024" "1" "90" "18" "52899822" "52899826" "del" "0" "01950" "TCF4_000041" "g.52899822_52899826del" "" "{PMID:Marangi 2011:21671391}" "" "" "" "De novo" "" "" "0" "" "" "g.55232591_55232595del" "" "pathogenic" "" "0000182025" "1" "90" "18" "52899819" "52899819" "subst" "0" "01950" "TCF4_000038" "g.52899819G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.55232588G>A" "" "pathogenic" "" "0000182026" "1" "90" "18" "52899785" "52899785" "subst" "0" "01950" "TCF4_000035" "g.52899785T>C" "" "{PMID:De Pontual 2008:19235238}" "" "1471A>G" "" "De novo" "" "" "0" "" "" "g.55232554T>C" "" "pathogenic" "" "0000182027" "1" "90" "18" "52899764" "52899768" "del" "0" "01950" "TCF4_000012" "g.52899764_52899768del" "" "{PMID:Giurgea 2008:18781613}" "" "1626_1630delATCAA" "" "De novo" "" "" "0" "" "" "g.55232533_55232537del" "" "pathogenic" "" "0000182028" "1" "90" "18" "52896309" "52896309" "subst" "0" "01950" "TCF4_000017" "g.52896309T>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.55229078T>G" "" "pathogenic" "" "0000182029" "1" "90" "18" "52896308" "52896308" "subst" "0" "01950" "TCF4_000076" "g.52896308C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.55229077C>T" "" "pathogenic" "" "0000182030" "1" "90" "18" "52896268" "52896268" "dup" "0" "01950" "TCF4_000042" "g.52896268dup" "" "{PMID:Marangi 2011:21671391}" "" "" "" "De novo" "" "" "0" "" "" "g.55229037dup" "" "pathogenic" "" "0000182031" "1" "90" "18" "52896258" "52896258" "subst" "0" "01950" "TCF4_000048" "g.52896258T>A" "" "{PMID:Zweier 2008:18728071}" "" "1678/1699A>T" "" "De novo" "" "" "0" "" "" "g.55229027T>A" "" "pathogenic" "" "0000182032" "1" "90" "18" "52896252" "52896252" "subst" "0" "01950" "TCF4_000026" "g.52896252G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.55229021G>A" "" "pathogenic" "" "0000182033" "1" "90" "18" "52896231" "52896231" "subst" "0" "01950" "TCF4_000028" "g.52896231G>C" "" "{PMID:De Pontual 2008:19235238}" "" "1727C>G" "" "De novo" "" "" "0" "" "" "g.55229000G>C" "" "pathogenic" "" "0000182034" "21" "90" "18" "52896230" "52896230" "subst" "0" "01950" "TCF4_000027" "g.52896230C>T" "" "{PMID:De Pontual 2008:19235238}" "" "1714G>A" "inherited from mother (somatic mosaicic)" "Germline" "" "" "0" "" "" "g.55228999C>T" "" "pathogenic" "" "0000182035" "1" "90" "18" "52896224" "52896224" "subst" "0" "01950" "TCF4_000029" "g.52896224C>T" "" "{PMID:Zweier 2008:18728071}" "" "1721/1733G>A" "" "De novo" "" "" "0" "" "" "g.55228993C>T" "" "pathogenic" "" "0000182036" "1" "90" "18" "52896224" "52896224" "subst" "0" "01950" "TCF4_000029" "g.52896224C>T" "" "{PMID:Marangi 2011:21671391}" "" "" "" "De novo" "" "" "0" "" "" "g.55228993C>T" "" "pathogenic" "" "0000182037" "1" "90" "18" "52896224" "52896224" "subst" "0" "01950" "TCF4_000029" "g.52896224C>T" "" "{PMID:Marangi 2011:21671391}" "" "" "" "De novo" "" "" "0" "" "" "g.55228993C>T" "" "pathogenic" "" "0000182038" "1" "90" "18" "52896224" "52896224" "subst" "0" "01950" "TCF4_000029" "g.52896224C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.55228993C>T" "" "pathogenic" "" "0000182039" "1" "90" "18" "52896224" "52896224" "subst" "0" "01950" "TCF4_000030" "g.52896224C>G" "" "{PMID:Zweier 2008:18728071}" "" "1721/1733G>C" "" "De novo" "" "" "0" "" "" "g.55228993C>G" "" "pathogenic" "" "0000182040" "1" "90" "18" "52896219" "52896219" "subst" "0" "00006" "TCF4_000001" "g.52896219G>A" "" "{PMID:Amiel 2007:17436254}; {OMIM602272:00001}" "" "1726C>T" "not in 338 control chromosomes" "De novo" "" "" "0" "" "" "g.55228988G>A" "" "pathogenic" "" "0000182041" "1" "90" "18" "52896219" "52896219" "subst" "0" "00006" "TCF4_000001" "g.52896219G>A" "" "{PMID:Amiel 2007:17436254}; {OMIM602272:00001}" "" "1726C>T" "not in 338 control chromosomes" "De novo" "" "" "0" "" "" "g.55228988G>A" "" "pathogenic" "" "0000182042" "1" "90" "18" "52896219" "52896219" "subst" "0" "00006" "TCF4_000001" "g.52896219G>A" "" "{PMID:Zweier 2007:17436255}; {PMID:Peippo 2006:16531728}" "" "1726/1738C>T, R576/580W" "" "De novo" "" "" "0" "" "" "g.55228988G>A" "" "pathogenic" "" "0000182043" "1" "90" "18" "52896219" "52896219" "subst" "0" "01950" "TCF4_000001" "g.52896219G>A" "" "{PMID:Giurgea 2008:18781613}; {OMIM602272:00001}" "" "" "" "De novo" "" "" "0" "" "" "g.55228988G>A" "" "pathogenic" "" "0000182044" "1" "90" "18" "52896219" "52896219" "subst" "0" "01950" "TCF4_000001" "g.52896219G>A" "" "{PMID:Marangi 2011:21671391}" "" "" "" "De novo" "" "" "0" "" "" "g.55228988G>A" "" "pathogenic" "" "0000182045" "1" "90" "18" "52896219" "52896219" "subst" "0" "01950" "TCF4_000001" "g.52896219G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.55228988G>A" "" "pathogenic" "" "0000182046" "1" "90" "18" "52896218" "52896218" "subst" "4.06194E-6" "01950" "TCF4_000002" "g.52896218C>T" "" "{PMID:Amiel 2007:17436254}; {OMIM602272:00002}" "" "1727G>A" "" "De novo" "" "" "0" "" "" "g.55228987C>T" "" "pathogenic" "" "0000182047" "1" "90" "18" "52896218" "52896218" "subst" "4.06194E-6" "01950" "TCF4_000002" "g.52896218C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.55228987C>T" "" "pathogenic" "" "0000182048" "1" "90" "18" "52896212" "52896212" "subst" "0" "01950" "TCF4_000032" "g.52896212C>G" "" "{PMID:Takano 2010:20184619}" "" "" "" "De novo" "" "" "0" "" "" "g.55228981C>G" "" "pathogenic" "" "0000182049" "1" "90" "18" "52896198" "52896198" "subst" "0" "01950" "TCF4_000020" "g.52896198C>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.55228967C>G" "" "pathogenic" "" "0000182050" "1" "90" "18" "52896144" "52896144" "subst" "0" "01950" "TCF4_000039" "g.52896144G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.55228913G>A" "" "pathogenic" "" "0000182051" "1" "90" "18" "52896144" "52896144" "subst" "0" "01950" "TCF4_000039" "g.52896144G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.55228913G>A" "" "pathogenic" "" "0000182052" "1" "90" "18" "52896116" "52896116" "subst" "0" "01950" "TCF4_000021" "g.52896116G>A" "" "{PMID:De Pontual 2008:19235238}" "" "1823C>T" "" "De novo" "" "" "0" "" "" "g.55228885G>A" "" "pathogenic" "" "0000182053" "1" "90" "18" "52896090" "52896090" "subst" "0" "01950" "TCF4_000040" "g.52896090G>A" "" "{PMID:Marangi 2011:21671391}" "" "" "" "De novo" "" "" "0" "" "" "g.55228859G>A" "" "pathogenic" "" "0000182054" "1" "90" "18" "52896081" "52896081" "subst" "0" "01950" "TCF4_000033" "g.52896081G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.55228850G>A" "" "pathogenic" "" "0000182055" "1" "90" "18" "52896081" "52896081" "subst" "0" "01950" "TCF4_000033" "g.52896081G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.55228850G>A" "" "pathogenic" "" "0000182056" "1" "90" "18" "52896081" "52896081" "subst" "0" "01950" "TCF4_000033" "g.52896081G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.55228850G>A" "" "pathogenic" "" "0000182057" "1" "90" "18" "52895519" "52895520" "del" "0" "01950" "TCF4_000062" "g.52895519_52895520del" "" "{PMID:Zweier 2008:18728071}" "" "1952-1957delCT (Ser661fs)" "" "De novo" "" "" "0" "" "" "g.55228288_55228289del" "" "pathogenic" "" "0000195746" "1" "90" "18" "0" "0" "" "0" "00006" "TCF4_000107" "g.[NC_000020.10:(40180000_40246978)_qter]delinsg.(53131369_53252510)_qter" "" "{PMID:Kalscheuer 2008:18627065}" "" "CHD6-TCF4 fusion" "fusion transcript CHD6 exon 1 spliced to TCF4 exon 4" "DUPLICATE record" "" "" "0" "" "t(18;20)(q21.1;q11.2)" "" "" "pathogenic" "" "0000195747" "1" "77" "18" "52937111" "52937111" "subst" "0" "01950" "TCF4_000100" "g.52937111G>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.55269880G>T" "" "likely pathogenic" "" "0000195748" "1" "77" "18" "52928697" "52928697" "subst" "0" "01950" "TCF4_000098" "g.52928697C>T" "" "{PMID:Tan 2015:25693842}" "" "" "{CV:ClinVar ID (RCV000147730.1)}" "De novo" "" "" "0" "" "" "g.55261466C>T" "" "likely pathogenic" "" "0000195749" "1" "77" "18" "52896295" "52896295" "del" "0" "01950" "TCF4_000101" "g.52896295del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.55229064del" "" "likely pathogenic" "" "0000195750" "0" "77" "18" "52896252" "52896252" "subst" "0" "01950" "TCF4_000026" "g.52896252G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.55229021G>A" "" "likely pathogenic" "" "0000195751" "0" "77" "18" "52896231" "52896231" "subst" "0" "01950" "TCF4_000102" "g.52896231G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.55229000G>A" "" "likely pathogenic" "" "0000195752" "0" "77" "18" "52896224" "52896224" "subst" "0" "01950" "TCF4_000029" "g.52896224C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.55228993C>T" "" "likely pathogenic" "" "0000195753" "0" "77" "18" "52896116" "52896116" "subst" "0" "01950" "TCF4_000021" "g.52896116G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.55228885G>A" "" "likely pathogenic" "" "0000195754" "0" "77" "18" "52895545" "52895545" "subst" "0" "01950" "TCF4_000103" "g.52895545C>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.55228314C>A" "" "likely pathogenic" "" "0000195755" "1" "77" "18" "53017626" "53017629" "del" "0" "01950" "TCF4_000047" "g.53017626_53017629del" "" "{PMID:Redin 2014:25167861}" "" "" "{CV:ClinVar ID (RCV000079461.4)}" "De novo" "" "" "0" "" "" "g.55350395_55350398del" "" "likely pathogenic" "" "0000195756" "1" "77" "18" "53017619" "53017619" "subst" "0" "01950" "TCF4_000023" "g.53017619G>A" "" "{PMID:Redin 2014:25167861}" "" "" "{CV:ClinVar ID (RCV000224478.1)}" "De novo" "" "" "0" "" "" "g.55350388G>A" "" "likely pathogenic" "" "0000195757" "0" "77" "18" "53017634" "53017634" "subst" "0" "01950" "TCF4_000104" "g.53017634G>A" "" "{PMID:Grozeva 2015:26350204}" "" "" "" "De novo" "" "" "0" "" "" "g.55350403G>A" "" "likely pathogenic" "" "0000195758" "0" "77" "18" "52946888" "52946888" "subst" "0" "01950" "TCF4_000105" "g.52946888C>T" "" "{PMID:Grozeva 2015:26350204}" "" "" "" "Unknown" "" "" "0" "" "" "g.55279657C>T" "" "likely pathogenic" "" "0000195759" "0" "77" "18" "52927260" "52927260" "subst" "0" "01950" "TCF4_000106" "g.52927260T>C" "" "{PMID:Tan 2015:25693842}" "" "" "{CV:ClinVar ID (RCV000147731.1)}" "Unknown" "" "" "0" "" "" "g.55260029T>C" "" "likely pathogenic" "" "0000195760" "0" "77" "18" "52921925" "52921925" "subst" "0" "01950" "TCF4_000003" "g.52921925G>A" "" "{PMID:Hamdan 2013 :22670824}" "" "" "{CV:ClinVar ID (RCV000007797.4)}" "De novo" "" "" "0" "" "" "g.55254694G>A" "" "likely pathogenic" "" "0000195761" "0" "77" "18" "52896230" "52896230" "subst" "0" "01950" "TCF4_000027" "g.52896230C>T" "" "{PMID:De Ligt 2012:23033978}" "" "" "" "De novo" "" "" "0" "" "" "g.55228999C>T" "" "likely pathogenic" "" "0000211214" "1" "77" "18" "52928697" "52928697" "subst" "0" "01950" "TCF4_000098" "g.52928697C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.55261466C>T" "" "likely pathogenic" "" "0000251623" "0" "10" "18" "52899699" "52899699" "subst" "0" "02326" "TCF4_000113" "g.52899699A>G" "" "" "" "TCF4(NM_001083962.2):c.1649+41T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55232468A>G" "" "benign" "" "0000251624" "0" "10" "18" "52927285" "52927285" "del" "0" "02326" "TCF4_000118" "g.52927285del" "" "" "" "TCF4(NM_001083962.2):c.991-18delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55260054del" "" "benign" "" "0000251625" "0" "10" "18" "52988717" "52988717" "del" "0" "02326" "TCF4_000121" "g.52988717del" "" "" "" "TCF4(NM_001083962.2):c.549+28879delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55321486del" "" "benign" "" "0000251626" "0" "10" "18" "53131210" "53131210" "subst" "0" "02326" "TCF4_000127" "g.53131210A>T" "" "" "" "TCF4(NM_001083962.2):c.207+97T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55463979A>T" "" "benign" "" "0000251627" "0" "10" "18" "53177742" "53177742" "subst" "0" "02326" "TCF4_000129" "g.53177742A>G" "" "" "" "TCF4(NM_001083962.2):c.146-46374T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55510511A>G" "" "benign" "" "0000251628" "0" "10" "18" "53255646" "53255646" "del" "0" "02326" "TCF4_000132" "g.53255646del" "" "" "" "TCF4(NM_001083962.2):c.-387delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55588415del" "" "benign" "" "0000252309" "0" "30" "18" "52937203" "52937203" "subst" "0.000260357" "02326" "TCF4_000119" "g.52937203A>G" "" "" "" "TCF4(NM_001083962.2):c.790-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55269972A>G" "" "likely benign" "" "0000255321" "0" "30" "18" "53252586" "53252586" "subst" "0.000598354" "01943" "TCF4_000131" "g.53252586A>G" "" "" "" "TCF4(NM_001083962.1):c.73-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55585355A>G" "" "likely benign" "" "0000311762" "0" "50" "18" "52969733" "52969733" "subst" "0.000208147" "02325" "TCF4_000120" "g.52969733T>C" "" "" "" "TCF4(NM_001243236.2):c.-18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55302502T>C" "" "VUS" "" "0000311763" "0" "50" "18" "52896108" "52896108" "subst" "0" "02325" "TCF4_000109" "g.52896108C>T" "" "" "" "TCF4(NM_001083962.2):c.1849G>A (p.V617I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55228877C>T" "" "VUS" "" "0000311764" "0" "10" "18" "52895531" "52895531" "subst" "0.374991" "02325" "TCF4_000108" "g.52895531T>C" "" "" "" "TCF4(NM_001083962.2):c.1941A>G (p.S647=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55228300T>C" "" "benign" "" "0000311765" "0" "30" "18" "53128354" "53128354" "subst" "0.000485665" "02325" "TCF4_000125" "g.53128354T>C" "" "" "" "TCF4(NM_001083962.2):c.208-8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55461123T>C" "" "likely benign" "" "0000311766" "0" "10" "18" "53303101" "53303101" "subst" "0.999579" "02325" "TCF4_000166" "g.53303101C>G" "" "" "" "TCF4(NM_001243226.3):c.28G>C (p.A10P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55635870=" "" "benign" "" "0000311767" "0" "10" "18" "53070914" "53070914" "subst" "0.212345" "02325" "TCF4_000123" "g.53070914G>A" "" "" "" "TCF4(NM_001243232.1):c.32C>T (p.A11V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55403683G>A" "" "benign" "" "0000313255" "0" "70" "18" "52896251" "52896251" "subst" "0" "02329" "TCF4_000112" "g.52896251C>T" "" "" "" "TCF4(NM_001083962.2):c.1706G>A (p.R569Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55229020C>T" "" "likely pathogenic" "" "0000314461" "0" "10" "18" "52922007" "52922007" "subst" "0" "02326" "TCF4_000117" "g.52922007C>T" "" "" "" "TCF4(NM_001083962.2):c.1147-76G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55254776C>T" "" "benign" "" "0000314462" "0" "10" "18" "52921626" "52921626" "subst" "0" "02326" "TCF4_000116" "g.52921626T>A" "" "" "" "TCF4(NM_001083962.2):c.1350+102A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55254395T>A" "" "benign" "" "0000314463" "0" "30" "18" "53252499" "53252499" "subst" "0" "02326" "TCF4_000130" "g.53252499G>T" "" "" "" "TCF4(NM_001083962.2):c.145+12C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55585268G>T" "" "likely benign" "" "0000314464" "0" "10" "18" "52899700" "52899700" "subst" "4.88814E-5" "02326" "TCF4_000114" "g.52899700T>A" "" "" "" "TCF4(NM_001083962.2):c.1649+40A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55232469T>A" "" "benign" "" "0000314465" "0" "90" "18" "52896116" "52896116" "subst" "0" "02326" "TCF4_000021" "g.52896116G>A" "" "" "" "TCF4(NM_003199.3):c.1829C>T (p.A610V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55228885G>A" "" "pathogenic" "" "0000314466" "0" "10" "18" "53298807" "53298807" "del" "0" "02326" "TCF4_000164" "g.53298807del" "" "" "" "TCF4(NM_001243226.3):c.196-188delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55631576del" "" "benign" "" "0000314467" "0" "10" "18" "53131208" "53131208" "subst" "0" "02326" "TCF4_000126" "g.53131208T>A" "" "" "" "TCF4(NM_001083962.2):c.207+99A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55463977T>A" "" "benign" "" "0000314468" "0" "10" "18" "53128047" "53128047" "subst" "0" "02326" "TCF4_000124" "g.53128047C>A" "" "" "" "TCF4(NM_001083962.2):c.304+203G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55460816C>A" "" "benign" "" "0000314469" "0" "10" "18" "52988757" "52988757" "subst" "0" "02326" "TCF4_000122" "g.52988757T>C" "" "" "" "TCF4(NM_001083962.2):c.549+28833A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55321526T>C" "" "benign" "" "0000314470" "0" "10" "18" "52928807" "52928807" "subst" "0.0221874" "02326" "TCF4_000088" "g.52928807C>T" "" "" "" "TCF4(NM_001083962.2):c.923-43G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55261576C>T" "" "benign" "" "0000316362" "0" "30" "18" "52901846" "52901846" "subst" "0.00220574" "01943" "TCF4_000115" "g.52901846C>G" "" "" "" "TCF4(NM_001083962.1):c.1419G>C (p.P473=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55234615C>G" "" "likely benign" "" "0000316363" "0" "90" "18" "52896236" "52896236" "subst" "0" "01943" "TCF4_000111" "g.52896236T>G" "" "" "" "TCF4(NM_001083962.1):c.1721A>C (p.N574T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55229005T>G" "" "pathogenic" "" "0000325920" "0" "50" "18" "53131338" "53131338" "subst" "0" "01804" "TCF4_000128" "g.53131338C>T" "" "" "" "TCF4(NM_001083962.1):c.176G>A (p.(Trp59Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55464107C>T" "" "VUS" "" "0000338370" "0" "10" "18" "52895531" "52895531" "subst" "0.374991" "02327" "TCF4_000108" "g.52895531T>C" "" "" "" "TCF4(NM_001083962.2):c.1941A>G (p.S647=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55228300T>C" "" "benign" "" "0000338371" "0" "90" "18" "52899905" "52899905" "subst" "0" "02327" "TCF4_000138" "g.52899905G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55232674G>C" "" "pathogenic" "" "0000338373" "0" "90" "18" "52928696" "52928696" "subst" "0" "02327" "TCF4_000141" "g.52928696C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55261465C>T" "" "pathogenic" "" "0000338374" "0" "90" "18" "52937056" "52937056" "subst" "0" "02327" "TCF4_000143" "g.52937056A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55269825A>C" "" "pathogenic" "" "0000338375" "0" "90" "18" "52946781" "52946781" "subst" "0" "02327" "TCF4_000146" "g.52946781C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55279550C>T" "" "pathogenic" "" "0000339047" "0" "90" "18" "52942941" "52942944" "dup" "0" "02327" "TCF4_000144" "g.52942941_52942944dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55275710_55275713dup" "" "pathogenic" "" "0000341366" "0" "30" "18" "52928743" "52928743" "subst" "0.000631313" "02327" "TCF4_000142" "g.52928743G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55261512G>A" "" "likely benign" "" "0000341521" "0" "90" "18" "52896116" "52896116" "subst" "0" "02327" "TCF4_000021" "g.52896116G>A" "" "" "" "TCF4(NM_003199.3):c.1829C>T (p.A610V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55228885G>A" "" "pathogenic" "" "0000341995" "0" "90" "18" "53018135" "53018135" "subst" "0" "02327" "TCF4_000022" "g.53018135G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55350904G>A" "" "pathogenic" "" "0000342780" "0" "90" "18" "52921925" "52921925" "subst" "0" "02327" "TCF4_000003" "g.52921925G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55254694G>A" "" "pathogenic" "" "0000343121" "0" "90" "18" "52896230" "52896230" "subst" "0" "02327" "TCF4_000027" "g.52896230C>T" "" "" "" "TCF4(NM_001083962.2):c.1727G>A (p.R576Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55228999C>T" "" "pathogenic" "" "0000343123" "0" "90" "18" "52896231" "52896231" "subst" "0" "02327" "TCF4_000028" "g.52896231G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55229000G>C" "" "pathogenic" "" "0000343124" "0" "90" "18" "52896231" "52896231" "subst" "0" "02327" "TCF4_000102" "g.52896231G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55229000G>A" "" "pathogenic" "" "0000343126" "0" "70" "18" "52896224" "52896224" "subst" "0" "02327" "TCF4_000136" "g.52896224C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55228993C>A" "" "likely pathogenic" "" "0000343127" "0" "90" "18" "52896224" "52896224" "subst" "0" "02327" "TCF4_000030" "g.52896224C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55228993C>G" "" "pathogenic" "" "0000343131" "0" "90" "18" "52896218" "52896218" "subst" "4.06194E-6" "02327" "TCF4_000002" "g.52896218C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55228987C>T" "" "pathogenic" "" "0000344133" "0" "90" "18" "52899785" "52899785" "subst" "0" "02327" "TCF4_000035" "g.52899785T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55232554T>C" "" "pathogenic" "" "0000344864" "0" "90" "18" "52901827" "52901827" "subst" "0" "02327" "TCF4_000036" "g.52901827G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55234596G>A" "" "pathogenic" "" "0000345504" "0" "10" "18" "52895549" "52895549" "subst" "0.000479273" "02327" "TCF4_000134" "g.52895549C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55228318C>T" "" "benign" "" "0000347190" "0" "90" "18" "52924560" "52924560" "del" "0" "02327" "TCF4_000139" "g.52924560del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55257329del" "" "pathogenic" "" "0000347214" "0" "90" "18" "52899788" "52899788" "subst" "0" "02327" "TCF4_000137" "g.52899788A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55232557A>T" "" "pathogenic" "" "0000350599" "0" "90" "18" "52896216" "52896216" "subst" "0" "02327" "TCF4_000135" "g.52896216C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55228985C>A" "" "pathogenic" "" "0000351276" "0" "90" "18" "52928697" "52928697" "subst" "0" "02327" "TCF4_000098" "g.52928697C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55261466C>T" "" "pathogenic" "" "0000358071" "1" "90" "18" "5325347" "53253330" "" "0" "00006" "TCF4_000150" "g.(53253330_5325347)insN[(51_?)]]" "" "{PMID:Mootha 2014:24255041}" "" "expanded >40 units" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000358072" "1" "10" "18" "53210302" "53210302" "" "0" "00006" "TCF4_000151" "g.53210302=" "" "{PMID:Mootha 2014:24255041}" "" "rs613872 G" "" "Germline" "" "rs613872" "0" "" "" "g.55543071=" "" "benign" "" "0000358073" "2" "10" "18" "0" "0" "" "0" "00006" "TCF4_000152" "g.53253385_53253459AGC[12_26]" "" "{PMID:Mootha 2014:24255041}" "" "" "" "Germline" "no" "" "0" "" "" "" "" "benign" "" "0000358074" "1" "10" "18" "53210302" "53210302" "" "0" "00006" "TCF4_000151" "g.53210302=" "" "{PMID:Mootha 2014:24255041}" "" "rs613872 G" "" "Germline" "" "rs613872" "0" "" "" "g.55543071=" "" "benign" "" "0000358075" "1" "90" "18" "5325347" "53253330" "" "0" "00006" "TCF4_000150" "g.(53253330_5325347)insN[(51_?)]]" "" "{PMID:Mootha 2014:24255041}" "" "expanded >40 units" "incomplete penetrance" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (!)" "" "0000358076" "2" "10" "18" "0" "0" "" "0" "00006" "TCF4_000153" "g.53253385_53253459AGC[12_35]" "" "{PMID:Mootha 2014:24255041}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000358077" "1" "90" "18" "5325347" "53253330" "" "0" "00006" "TCF4_000150" "g.(53253330_5325347)insN[(51_?)]]" "" "{PMID:Mootha 2014:24255041}" "" "expanded >40 units" "incomplete penetrance" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (!)" "" "0000358078" "1" "10" "18" "53210302" "53210302" "" "0" "00006" "TCF4_000151" "g.53210302=" "" "{PMID:Mootha 2014:24255041}" "" "rs613872 G" "" "Germline" "" "rs613872" "0" "" "" "g.55543071=" "" "benign" "" "0000358079" "2" "10" "18" "53253385" "53253459" "" "0" "00006" "TCF4_000154" "g.53253385_53253459AGC[12]" "" "{PMID:Mootha 2014:24255041}" "" "" "" "Germline" "no" "" "0" "" "" "" "" "benign" "" "0000358082" "3" "10" "18" "0" "0" "" "0" "00006" "TCF4_000000" "g.53253385_53253459AGC[12_35]" "" "{PMID:Mootha 2014:24255041}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000358083" "1" "90" "18" "5325347" "53253330" "" "0" "00006" "TCF4_000150" "g.(53253330_5325347)insN[(51_?)]]" "" "{PMID:Mootha 2014:24255041}" "" "expanded >40 units" "incomplete penetrance" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (!)" "" "0000358084" "1" "10" "18" "53210302" "53210302" "" "0" "00006" "TCF4_000151" "g.53210302=" "" "{PMID:Mootha 2014:24255041}" "" "rs613872 G" "" "Germline" "" "rs613872" "0" "" "" "g.55543071=" "" "benign" "" "0000358085" "2" "10" "18" "53253385" "53253459" "" "0" "00006" "TCF4_000000" "g.53253385_53253459AGC[21]" "" "{PMID:Mootha 2014:24255041}" "" "" "" "Germline" "no" "" "0" "" "" "" "" "benign" "" "0000358086" "1" "10" "18" "53210302" "53210302" "" "0" "00006" "TCF4_000151" "g.53210302=" "" "{PMID:Mootha 2014:24255041}" "" "rs613872 G" "" "Germline" "" "rs613872" "0" "" "" "g.55543071=" "" "benign" "" "0000358087" "1" "90" "18" "5325347" "53253330" "" "0" "00006" "TCF4_000150" "g.(53253330_5325347)insN[(51_?)]]" "" "{PMID:Mootha 2014:24255041}" "" "expanded >40 units" "incomplete penetrance" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (!)" "" "0000358088" "2" "10" "18" "0" "0" "" "0" "00006" "TCF4_000000" "g.53253385_53253459AGC[12_35]" "" "{PMID:Mootha 2014:24255041}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000358089" "3" "90" "18" "5325347" "53253330" "" "0" "00006" "TCF4_000150" "g.(53253330_5325347)insN[(51_?)]]" "" "{PMID:Mootha 2014:24255041}" "" "expanded >40 units" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000358090" "3" "10" "18" "53210302" "53210302" "" "0" "00006" "TCF4_000151" "g.53210302=" "" "{PMID:Mootha 2014:24255041}" "" "rs613872 G" "" "Germline" "" "rs613872" "0" "" "" "g.55543071=" "" "benign" "" "0000358091" "1" "90" "18" "5325347" "53253330" "" "0" "00006" "TCF4_000000" "g.(53253330_5325347)insN[(81_?)]]" "344/450 cases FECD" "{PMID:Zarouchlioti 2018:29526280}" "" "" "18/344 cases are homozygous; >76-fold increased risk" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (!)" "" "0000407978" "0" "90" "18" "52896230" "52896230" "subst" "0" "00006" "TCF4_000027" "g.52896230C>T" "" "{PMID:de Ligt 2012:23033978}" "" "NM_001083962.1:c.1715G>A (Arg576Gln)" "" "De novo" "" "" "0" "" "" "g.55228999C>T" "" "pathogenic" "" "0000565099" "0" "50" "18" "52899873" "52899873" "subst" "0" "01943" "TCF4_000155" "g.52899873C>T" "" "" "" "TCF4(NM_001330604.2):c.1513G>A (p.V505I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55232642C>T" "" "VUS" "" "0000565102" "0" "10" "18" "52943165" "52943165" "subst" "0" "02326" "TCF4_000156" "g.52943165A>T" "" "" "" "TCF4(NM_001083962.2):c.656-182T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55275934A>T" "" "benign" "" "0000565103" "0" "70" "18" "52946783" "52946783" "subst" "0" "01804" "TCF4_000157" "g.52946783T>C" "" "" "" "TCF4(NM_001083962.1):c.654A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55279552T>C" "" "likely pathogenic" "" "0000565104" "0" "90" "18" "53017619" "53017619" "subst" "0" "02327" "TCF4_000023" "g.53017619G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55350388G>A" "" "pathogenic" "" "0000565105" "0" "90" "18" "53018104" "53018104" "subst" "0" "02329" "TCF4_000158" "g.53018104C>T" "" "" "" "TCF4(NM_001083962.2):c.499+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55350873C>T" "" "pathogenic" "" "0000565106" "0" "90" "18" "53018191" "53018191" "del" "0" "02325" "TCF4_000159" "g.53018191del" "" "" "" "TCF4(NM_001083962.2):c.415delC (p.L139Ffs*95)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55350960del" "" "pathogenic" "" "0000565107" "0" "10" "18" "53128468" "53128468" "subst" "0" "02326" "TCF4_000160" "g.53128468G>T" "" "" "" "TCF4(NM_001083962.2):c.208-122C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55461237G>T" "" "benign" "" "0000565108" "0" "30" "18" "53131376" "53131376" "subst" "4.06253E-6" "01804" "TCF4_000161" "g.53131376C>T" "" "" "" "TCF4(NM_001083962.1):c.146-8G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55464145C>T" "" "likely benign" "" "0000565109" "0" "10" "18" "53254239" "53254239" "subst" "0" "02326" "TCF4_000162" "g.53254239T>C" "" "" "" "TCF4(NM_001083962.2):c.72+37A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55587008T>C" "" "benign" "" "0000565110" "0" "50" "18" "53298543" "53298543" "subst" "0" "02329" "TCF4_000163" "g.53298543G>A" "" "" "" "TCF4(NM_001243226.3):c.272C>T (p.T91I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55631312G>A" "" "VUS" "" "0000617207" "0" "90" "18" "52901778" "52901778" "subst" "0" "02325" "TCF4_000167" "g.52901778C>A" "" "" "" "TCF4(NM_001083962.2):c.1486+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55234547C>A" "" "pathogenic" "" "0000617208" "0" "50" "18" "52921759" "52921759" "subst" "0" "02325" "TCF4_000168" "g.52921759C>G" "" "" "" "TCF4(NM_001083962.2):c.1319G>C (p.G440A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55254528C>G" "" "VUS" "" "0000617209" "0" "90" "18" "52927221" "52927221" "subst" "0" "02327" "TCF4_000169" "g.52927221G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55259990G>C" "" "pathogenic" "" "0000624883" "0" "90" "18" "52921925" "52921925" "subst" "0" "01807" "TCF4_000003" "g.52921925G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.55254694G>A" "" "pathogenic" "" "0000631932" "0" "90" "18" "52895575" "52895575" "dup" "0" "01807" "TCF4_000170" "g.52895575dup" "" "" "" "1899dupA" "" "Unknown" "" "" "0" "" "" "g.55228344dup" "" "pathogenic" "" "0000649840" "1" "90" "18" "52899819" "52899819" "subst" "0" "03575" "TCF4_000038" "g.52899819G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs796053418}" "Germline" "" "rs796053418" "0" "" "" "g.55232588G>A" "" "pathogenic" "" "0000649841" "1" "30" "18" "52928743" "52928743" "subst" "0.000631313" "03575" "TCF4_000142" "g.52928743G>A" "2/2775 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs147445499}" "Germline" "" "rs147445499" "0" "" "" "g.55261512G>A" "" "likely benign" "" "0000649842" "1" "90" "18" "52942959" "52942959" "subst" "0" "03575" "TCF4_000171" "g.52942959C>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs796053425}" "Germline" "" "rs796053425" "0" "" "" "g.55275728C>A" "" "pathogenic" "" "0000658412" "0" "50" "18" "52895601" "52895601" "subst" "0" "01943" "TCF4_000172" "g.52895601G>A" "" "" "" "TCF4(NM_001083962.1):c.1880-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55228370G>A" "" "VUS" "" "0000658413" "0" "90" "18" "52896186" "52896186" "subst" "0" "02327" "TCF4_000173" "g.52896186G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55228955G>A" "" "pathogenic" "" "0000659734" "0" "90" "18" "52937057" "52937057" "subst" "0" "03446" "TCF4_000178" "g.52937057C>T" "" "" "" "" "Splicing change confirmed by RT-PCR - skipping of exon 11" "De novo" "yes" "" "0" "" "" "g.55269826C>T" "" "pathogenic (dominant)" "" "0000660093" "21" "50" "18" "52924624" "52924624" "subst" "0" "01164" "TCF4_000179" "g.52924624T>C" "" "" "" "" "ACMG grading: PVS1,PM2,BS4; prenatal sample, segregation showed maternal origin, mother not affected, possibly in-frame cryptic SS activation" "Germline" "no" "" "0" "" "" "g.55257393T>C" "" "VUS" "ACMG" "0000660597" "0" "70" "18" "52899907" "52899907" "subst" "0.000219468" "00006" "TCF4_000180" "g.52899907C>T" "" "{PMID:Redin 2014:25167861}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.55232676C>T" "" "pathogenic (dominant)" "" "0000666152" "0" "90" "18" "52921782" "52921783" "del" "0" "01807" "TCF4_000181" "g.52921782_52921783del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.55254551_55254552del" "" "pathogenic" "" "0000667306" "0" "70" "18" "52921925" "52921925" "subst" "0" "00006" "TCF4_000003" "g.52921925G>A" "" "{PMID:Hamdan 2015:25356899}" "" "" "" "De novo" "" "" "0" "" "" "g.55254694G>A" "" "pathogenic (dominant)" "" "0000667402" "0" "90" "18" "52942880" "52942880" "subst" "0" "00006" "TCF4_000182" "g.52942880G>C" "" "{PMID:Srivastava 2018:29322350}" "" "" "" "De novo" "" "" "0" "" "" "g.55275649G>C" "" "pathogenic (dominant)" "" "0000681176" "0" "70" "18" "52901778" "52901778" "subst" "0" "01804" "TCF4_000183" "g.52901778C>T" "" "" "" "TCF4(NM_001083962.1):c.1486+1G>A (p.?), TCF4(NM_001083962.2):c.1486+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000683353" "0" "70" "18" "52946888" "52946888" "subst" "0" "00006" "TCF4_000105" "g.52946888C>T" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.55279657C>T" "" "likely pathogenic (dominant)" "" "0000683354" "0" "70" "18" "53017634" "53017634" "subst" "0" "00006" "TCF4_000104" "g.53017634G>A" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.55350403G>A" "" "likely pathogenic (dominant)" "" "0000692618" "0" "30" "18" "52921779" "52921779" "subst" "0.00035814" "02326" "TCF4_000184" "g.52921779C>T" "" "" "" "TCF4(NM_001083962.1):c.1299G>A (p.L433=), TCF4(NM_001083962.2):c.1299G>A (p.L433=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726931" "0" "70" "18" "52896108" "52896108" "subst" "0" "02329" "TCF4_000109" "g.52896108C>T" "" "" "" "TCF4(NM_001083962.2):c.1849G>A (p.V617I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000726932" "0" "90" "18" "52896183" "52896183" "del" "0" "02329" "TCF4_000110" "g.52896183del" "" "" "" "TCF4(NM_001083962.2):c.1775delG (p.G592Afs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000726933" "0" "30" "18" "52921779" "52921779" "subst" "0.00035814" "01943" "TCF4_000184" "g.52921779C>T" "" "" "" "TCF4(NM_001083962.1):c.1299G>A (p.L433=), TCF4(NM_001083962.2):c.1299G>A (p.L433=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726934" "0" "30" "18" "52928721" "52928721" "subst" "0.000394868" "02326" "TCF4_000185" "g.52928721A>G" "" "" "" "TCF4(NM_001083962.1):c.966T>C (p.D322=), TCF4(NM_001083962.2):c.966T>C (p.D322=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726935" "0" "50" "18" "53018138" "53018138" "subst" "4.06438E-6" "02325" "TCF4_000186" "g.53018138G>T" "" "" "" "TCF4(NM_001083962.2):c.466C>A (p.P156T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726936" "0" "30" "18" "53018154" "53018154" "subst" "0" "01943" "TCF4_000187" "g.53018154C>T" "" "" "" "TCF4(NM_001083962.1):c.450G>A (p.Q150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726937" "0" "30" "18" "53070883" "53070883" "subst" "1.49036E-5" "01943" "TCF4_000188" "g.53070883G>A" "" "" "" "TCF4(NM_001243232.1):c.63C>T (p.C21=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726938" "0" "50" "18" "53128330" "53128330" "subst" "0" "02329" "TCF4_000174" "g.53128330G>C" "" "" "" "TCF4(NM_001243228.2):c.224C>G (p.T75S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726939" "0" "30" "18" "53131313" "53131313" "subst" "8.12334E-6" "01943" "TCF4_000189" "g.53131313C>T" "" "" "" "TCF4(NM_001083962.1):c.201G>A (p.P67=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000785870" "0" "90" "18" "52901778" "52901778" "subst" "0" "01864" "TCF4_000190" "g.52901778C>A" "" "" "" "" "" "De novo" "yes" "" "" "" "" "" "" "pathogenic (dominant)" "" "0000787067" "0" "70" "18" "52946889" "52946889" "subst" "0" "00006" "TCF4_000193" "g.52946889T>G" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.55279658T>G" "" "likely pathogenic" "" "0000787179" "0" "50" "18" "52928697" "52928697" "subst" "0" "00006" "TCF4_000098" "g.52928697C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs587784469" "0" "" "" "g.55261466C>T" "{CV-RCV:000147730.1}" "VUS" "" "0000787536" "0" "50" "18" "52937158" "52937158" "subst" "0" "00000" "TCF4_000192" "g.52937158T>A" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.55269927T>A" "" "VUS" "" "0000787557" "0" "50" "18" "52928758" "52928758" "subst" "0" "00000" "TCF4_000191" "g.52928758C>T" "" "0" "" "" "" "Germline" "" "rs1166273670" "0" "" "" "g.55261527C>T" "" "VUS" "" "0000808531" "0" "50" "18" "52921880" "52921880" "subst" "0" "02327" "TCF4_000194" "g.52921880G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808532" "0" "30" "18" "52928721" "52928721" "subst" "0.000394868" "01943" "TCF4_000185" "g.52928721A>G" "" "" "" "TCF4(NM_001083962.1):c.966T>C (p.D322=), TCF4(NM_001083962.2):c.966T>C (p.D322=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808533" "0" "90" "18" "52942933" "52942933" "del" "0" "02329" "TCF4_000195" "g.52942933del" "" "" "" "TCF4(NM_001243228.2):c.725delC (p.P242Lfs*28)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000836995" "0" "70" "18" "52896218" "52896218" "subst" "4.06194E-6" "02494" "TCF4_000002" "g.52896218C>T" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "likely pathogenic (dominant)" "" "0000836996" "0" "70" "18" "52896218" "52896218" "subst" "4.06194E-6" "02494" "TCF4_000002" "g.52896218C>T" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "likely pathogenic (dominant)" "" "0000840052" "0" "50" "18" "52901900" "52901900" "del" "0" "03779" "TCF4_000197" "g.52901900del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000840053" "0" "70" "18" "52901890" "52901890" "del" "0" "03779" "TCF4_000196" "g.52901890del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000841157" "0" "90" "18" "52921925" "52921925" "subst" "0" "00006" "TCF4_000003" "g.52921925G>A" "" "{PMID:Froukh 2020:32056211}" "" "" "germline mosaicism in family" "De novo" "" "" "0" "" "" "g.55254694G>A" "" "pathogenic (dominant)" "" "0000855330" "0" "30" "18" "52895271" "52895271" "subst" "0" "02326" "TCF4_000198" "g.52895271G>A" "" "" "" "TCF4(NM_001243228.2):c.*5-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855331" "0" "30" "18" "52937093" "52937093" "subst" "2.0356E-5" "01943" "TCF4_000201" "g.52937093C>T" "" "" "" "TCF4(NM_001083962.1):c.891G>A (p.T297=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855332" "0" "30" "18" "53070861" "53070861" "subst" "8.77678E-5" "01943" "TCF4_000203" "g.53070861G>T" "" "" "" "TCF4(NM_001243232.1):c.85C>A (p.P29T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865721" "0" "30" "18" "52899838" "52899838" "subst" "0.000377825" "01943" "TCF4_000199" "g.52899838G>A" "" "" "" "TCF4(NM_001083962.1):c.1551C>T (p.D517=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865722" "0" "30" "18" "52899888" "52899888" "subst" "0.000174707" "01943" "TCF4_000200" "g.52899888G>A" "" "" "" "TCF4(NM_001083962.1):c.1501C>T (p.L501=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865723" "0" "30" "18" "52988946" "52988946" "subst" "0" "01943" "TCF4_000202" "g.52988946C>A" "" "" "" "TCF4(NM_001243234.1):c.24G>T (p.P8=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865724" "0" "30" "18" "53255261" "53255261" "subst" "0" "01943" "TCF4_000204" "g.53255261G>T" "" "" "" "TCF4(NM_001083962.1):c.-21+8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865725" "0" "30" "18" "53255701" "53255701" "subst" "0.000414336" "01943" "TCF4_000205" "g.53255701C>T" "" "" "" "TCF4(NM_001243230.1):c.66G>A (p.E22=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894603" "0" "90" "18" "52896081" "52896081" "subst" "0" "02327" "TCF4_000033" "g.52896081G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000894604" "0" "50" "18" "52946804" "52946804" "subst" "1.62782E-5" "02325" "TCF4_000206" "g.52946804G>C" "" "" "" "TCF4(NM_001083962.2):c.633C>G (p.F211L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930970" "0" "90" "18" "52901778" "52901778" "subst" "0" "02325" "TCF4_000183" "g.52901778C>T" "" "" "" "TCF4(NM_001083962.1):c.1486+1G>A (p.?), TCF4(NM_001083962.2):c.1486+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000933293" "0" "70" "18" "52896231" "52896231" "subst" "0" "01164" "TCF4_000102" "g.52896231G>A" "" "PMID: 27179618, 29695756, 31428121" "" "" "ACMG: PVS1, PS2, PS4_MOD, PM2_SUP, confirmed de novo in trio-exome" "De novo" "-" "" "" "" "" "g.55229000G>A" "" "pathogenic (dominant)" "ACMG" "0000939804" "0" "70" "18" "52896231" "52896231" "subst" "0" "00006" "TCF4_000102" "g.52896231G>A" "" "{PMID:Nambot 2018:29095811}" "" "" "" "De novo" "" "" "0" "" "" "g.55229000G>A" "" "likely pathogenic (dominant)" "" "0000939836" "0" "70" "18" "52896247" "52896247" "subst" "0" "00006" "TCF4_000207" "g.52896247C>G" "" "{PMID:Nambot 2018:29095811}" "" "" "" "De novo" "" "" "0" "" "" "g.55229016C>G" "" "likely pathogenic (dominant)" "" "0000939900" "0" "70" "18" "52921549" "52922186" "del" "0" "00006" "TCF4_000208" "g.(?_52921549)_(52922186_?)del" "" "{PMID:Nambot 2018:29095811}" "" "chr18:52921549-52922186del" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_55254318)_(55254955_?)del" "" "likely pathogenic" "" "0000945915" "0" "50" "18" "52899894" "52899894" "subst" "0" "01164" "TCF4_000209" "g.52899894G>T" "" "" "" "" "ACMG: PS2, PM2_SUP; according to ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TCF4 Version 3.0.0; (confirmed de novo, absent from gnomAD)" "De novo" "-" "" "" "" "" "g.55232663G>T" "" "VUS (!)" "ACMG" "0000951153" "0" "90" "18" "52896230" "52896230" "subst" "0" "02325" "TCF4_000027" "g.52896230C>T" "" "" "" "TCF4(NM_001083962.2):c.1727G>A (p.R576Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000951154" "0" "50" "18" "52901787" "52901787" "subst" "0" "02325" "TCF4_000210" "g.52901787G>T" "" "" "" "TCF4(NM_001083962.2):c.1478C>A (p.P493H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951155" "0" "90" "18" "53017626" "53017629" "del" "0" "02329" "TCF4_000047" "g.53017626_53017629del" "" "" "" "TCF4(NM_001243228.2):c.514_517delAAAG (p.K172Ffs*67)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000954770" "0" "70" "18" "52895595" "52895595" "subst" "0" "01164" "TCF4_000211" "g.52895595G>C" "" "" "" "" "ACMG: PS1_MOD, PS2_MOD, PM2_SUP, PP3, confirmed de novo" "De novo" "-" "" "0" "" "" "g.55228364G>C" "" "likely pathogenic (dominant)" "ACMG" "0000960240" "0" "70" "18" "52921913" "52921913" "subst" "0" "00006" "TCF4_000212" "g.52921913G>A" "" "{PMID:Poli 2024:38177409}" "" "" "" "De novo" "" "" "0" "" "" "g.55254682G>A" "1319340" "likely pathogenic (dominant)" "" "0000969438" "0" "90" "18" "52942875" "52942875" "dup" "0" "02325" "TCF4_000213" "g.52942875dup" "" "" "" "TCF4(NM_001083962.2):c.764dupG (p.C255Wfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001004184" "0" "50" "18" "52921795" "52921795" "subst" "4.07027E-6" "01804" "TCF4_000214" "g.52921795C>A" "" "" "" "TCF4(NM_001083962.1):c.1283G>T (p.(Gly428Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004185" "0" "50" "18" "52928698" "52928698" "subst" "0" "01804" "TCF4_000215" "g.52928698G>A" "" "" "" "TCF4(NM_001083962.1):c.989C>T (p.(Ser330Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004186" "0" "30" "18" "52946860" "52946860" "subst" "0" "01804" "TCF4_000216" "g.52946860C>T" "" "" "" "TCF4(NM_001083962.1):c.577G>A (p.(Asp193Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004187" "0" "50" "18" "52969651" "52969651" "subst" "7.68793E-6" "01804" "TCF4_000217" "g.52969651G>A" "" "" "" "TCF4(NM_001243236.1):c.65C>T (p.(Ala22Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004188" "0" "30" "18" "53018192" "53018192" "subst" "1.62648E-5" "01804" "TCF4_000218" "g.53018192T>C" "" "" "" "TCF4(NM_001083962.1):c.412A>G (p.(Thr138Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004189" "0" "30" "18" "53303043" "53303043" "subst" "0" "01804" "TCF4_000219" "g.53303043A>G" "" "" "" "TCF4(NM_001243226.1):c.86T>C (p.(Met29Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004190" "0" "50" "18" "53303119" "53303119" "subst" "2.83588E-5" "01804" "TCF4_000220" "g.53303119T>A" "" "" "" "TCF4(NM_001243226.1):c.10A>T (p.(Lys4*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001011939" "0" "90" "18" "53017619" "53017619" "subst" "0" "00006" "TCF4_000023" "g.53017619G>A" "" "{PMID:Salinas 2020:33084218}" "" "NM_003199:c.520C>T" "" "Unknown" "" "" "0" "" "" "g.55350388G>A" "VCV000235853.3" "pathogenic" "" "0001017817" "0" "90" "18" "52896225" "52896225" "subst" "0" "03544" "TCF4_000221" "g.52896225G>A" "" "" "" "" "" "De novo" "-" "rs2144406630" "0" "" "" "g.55228994G>A" "{CV:1343925}" "pathogenic" "ACMG" "0001019463" "0" "70" "18" "52896236" "52896236" "subst" "0" "03544" "TCF4_000222" "g.52896236T>C" "" "" "" "" "" "Germline" "yes" "rs1555710813" "0" "" "" "g.55229005T>C" "{CV:2635279}" "likely pathogenic" "ACMG" "0001030933" "0" "70" "18" "52896230" "52896230" "subst" "0" "03544" "TCF4_000223" "g.52896230C>G" "" "" "" "" "" "Germline" "-" "" "0" "" "" "g.55228999C>G" "" "pathogenic" "ACMG" "0001042469" "0" "50" "18" "52885319" "52885319" "subst" "0" "01804" "TCF4_000224" "g.52885319G>T" "" "" "" "TCF4(NM_001083962.2):c.*9947C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042470" "0" "30" "18" "52899907" "52899907" "subst" "0.000219468" "01804" "TCF4_000180" "g.52899907C>T" "" "" "" "TCF4(NM_001083962.2):c.1487-5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042471" "0" "30" "18" "52966881" "52966881" "subst" "0" "01804" "TCF4_000225" "g.52966881T>A" "" "" "" "TCF4(NM_001083962.2):c.550-19994A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042472" "0" "50" "18" "52969695" "52969695" "subst" "7.6993E-6" "01804" "TCF4_000226" "g.52969695T>A" "" "" "" "TCF4(NM_001243236.2):c.21A>T (p.(Arg7Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042473" "0" "30" "18" "52988903" "52988903" "subst" "0" "01804" "TCF4_000227" "g.52988903C>T" "" "" "" "TCF4(NM_001243234.2):c.67G>A (p.(Ala23Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042474" "0" "70" "18" "53018165" "53018165" "subst" "0" "01804" "TCF4_000228" "g.53018165G>A" "" "" "" "TCF4(NM_001083962.2):c.439C>T (p.(Gln147*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001042475" "0" "30" "18" "53071053" "53071053" "subst" "0" "01804" "TCF4_000229" "g.53071053C>T" "" "" "" "TCF4(NM_001243232.1):c.-108G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042476" "0" "30" "18" "53172818" "53172818" "subst" "0" "01804" "TCF4_000230" "g.53172818G>C" "" "" "" "TCF4(NM_001083962.2):c.146-41450C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042477" "0" "30" "18" "53253358" "53253358" "subst" "0" "01804" "TCF4_000231" "g.53253358A>G" "" "" "" "TCF4(NM_001083962.2):c.73-775T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042478" "0" "30" "18" "53302927" "53302927" "subst" "7.02109E-6" "01804" "TCF4_000232" "g.53302927T>C" "" "" "" "TCF4(NM_001243226.3):c.195+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042479" "0" "30" "18" "53304318" "53304318" "subst" "0" "01804" "TCF4_000233" "g.53304318C>T" "" "" "" "TCF4(NM_001243226.3):c.-1190G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001047174" "0" "70" "18" "52896116" "52896116" "subst" "0" "03820" "TCF4_000021" "g.52896116G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.55228885G>A" "" "likely pathogenic" "ACMG" "0001047536" "0" "70" "18" "52937097" "52937097" "del" "0" "03544" "TCF4_000234" "g.52937097del" "" "" "" "" "" "Germline" "-" "rs2145956310" "0" "" "" "g.55269866del" "{CV:1454032}" "pathogenic" "ACMG" ## 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 TCF4 ## Count = 313 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Haplotype}}" "0000000681" "00000133" "50" "146" "-120" "146" "-120" "c.146-120G>T" "r.(=)" "p.(=)" "" "" "0000064419" "00000133" "10" "923" "-43" "923" "-43" "c.923-43G>A" "r.(=)" "p.(=)" "" "" "0000064420" "00000133" "50" "990" "38" "990" "40" "c.990+38_990+40del" "r.(=)" "p.(=)" "" "" "0000064421" "00000133" "10" "2259" "0" "2259" "0" "c.*243C>A" "r.(=)" "p.(=)" "" "" "0000064422" "00000133" "50" "1832" "0" "1832" "0" "c.1832T>C" "r.(?)" "p.(Leu611Pro)" "" "" "0000064423" "00000133" "50" "369" "35" "369" "35" "c.369+35G>A" "r.(=)" "p.(=)" "" "" "0000064424" "00000133" "50" "2555" "0" "2555" "0" "c.*539dup" "r.(=)" "p.(=)" "" "" "0000064425" "00000133" "10" "207" "94" "207" "94" "c.207+94C>G" "r.(=)" "p.(=)" "" "" "0000064426" "00000133" "90" "1153" "0" "1153" "0" "c.1153C>T" "r.(?)" "p.(Arg385*)" "15" "" "0000064427" "00000133" "50" "990" "42" "990" "42" "c.990+42A>T" "r.(=)" "p.(=)" "" "" "0000064428" "00000133" "50" "500" "-56" "500" "-56" "c.500-56A>G" "r.(=)" "p.(=)" "" "" "0000079420" "00000133" "90" "1570" "0" "1570" "0" "c.1570C>T" "r.(?)" "p.(Gln524*)" "17" "" "0000079669" "00000133" "90" "1880" "-1" "1880" "-1" "c.1880-1G>A" "r.spl" "p.?" "18i" "" "0000079672" "00000133" "00" "-8388608" "0" "4534618" "0" "c.-24759932_*4532602del" "r.0?" "p.0?" "_1_20_" "" "0000164577" "00000133" "90" "1069" "2" "1069" "2" "c.1069+2T>G" "r.spl" "p.?" "13i" "" "0000179023" "00000133" "90" "990" "0" "990" "0" "c.990G>A" "r.spl?" "p.(Ser330=)" "12" "" "0000181947" "00000133" "90" "0" "" "0" "" "c.145+1_146-1::NM_032221.4:c.(-24+1_-23-1)" "r.?" "p.?" "3i" "" "0000181948" "00000133" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "" "0000181949" "00000133" "90" "-1" "0" "2017" "0" "c.(?_-1)_(*1_?)del" "r.0?" "p.0?" "_1_20_" "" "0000181950" "00000133" "90" "-1" "0" "2017" "0" "c.(?_-1)_(*1_?)del" "r.0?" "p.0?" "_1_20_" "" "0000181951" "00000133" "90" "-1" "0" "2017" "0" "c.(?_-1)_(*1_?)del" "r.0?" "p.0?" "_1_20_" "" "0000181952" "00000133" "90" "-1" "0" "2017" "0" "c.(?_-1)_(*1_?)del" "r.0?" "p.0?" "_1_20_" "" "0000181953" "00000133" "90" "-1" "0" "2017" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_20_" "" "0000181954" "00000133" "90" "-1" "0" "2017" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_20_" "" "0000181955" "00000133" "90" "-1" "0" "2017" "0" "c.(?_-1)_(*1_?)del" "r.0?" "p.0?" "_1_20_" "" "0000181956" "00000133" "90" "-1" "0" "2017" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_20_" "" "0000181957" "00000133" "90" "-1" "0" "2017" "0" "c.(?_-1)_(*1_?)del" "r.0?" "p.0?" "_1_20_" "" "0000181958" "00000133" "90" "-1" "0" "2017" "0" "c.(?_-1)_(*1_?)del" "r.0?" "p.0?" "_1_20_" "" "0000181959" "00000133" "90" "-1" "0" "2017" "0" "c.(?_-1)_(*1_?)del" "r.0?" "p.0?" "_1_20_" "" "0000181960" "00000133" "90" "-1" "0" "2017" "0" "c.(?_-1)_(*1_?)del" "r.0?" "p.0?" "_1_20_" "" "0000181961" "00000133" "90" "-1" "0" "2017" "0" "c.(?_-1)_(*1_?)del" "r.0?" "p.0?" "_1_20_" "" "0000181962" "00000133" "90" "-1" "0" "2017" "0" "c.(?_-1)_(*1_?)del" "r.0?" "p.0?" "_1_20_" "" "0000181963" "00000133" "90" "-1" "0" "2017" "0" "c.(?_-1)_(*1_?)del" "r.0?" "p.0?" "_1_20_" "" "0000181964" "00000133" "90" "-1" "0" "2017" "0" "c.(?_-1)_(*1_?)del" "r.0?" "p.0?" "_1_20_" "" "0000181965" "00000133" "90" "-1" "0" "2017" "0" "c.(?_-1)_(*1_?)del" "r.0?" "p.0?" "_1_20_" "" "0000181966" "00000133" "90" "-1" "0" "2017" "0" "c.(?_-1)_(*1_?)del" "r.0?" "p.0?" "_1_20_" "" "0000181967" "00000133" "90" "-1" "0" "2017" "0" "c.(?_-1)_(*1_?)del" "r.0?" "p.0?" "_1_20_" "" "0000181968" "00000133" "90" "-1" "0" "2017" "0" "c.(?_-1)_(*1_?)del" "r.0?" "p.0?" "_1_20_" "" "0000181969" "00000133" "90" "-1" "0" "2017" "0" "c.(?_-1)_(*1_?)del" "r.0?" "p.0?" "_1_20_" "" "0000181970" "00000133" "90" "-612" "0" "789" "1" "c.(?_-612)_789+?del" "r.0?" "p.0?" "_1_10i" "" "0000181971" "00000133" "90" "146" "-1" "369" "1" "c.146-?_369+?del" "r.del" "p.del" "3i_6i" "" "0000181972" "00000133" "90" "305" "-1" "549" "1" "c.305-?_549+?del" "r.del" "p.del" "5i_8i" "" "0000181973" "00000133" "90" "305" "-1" "549" "1" "c.305-?_549+?del" "r.del" "p.del" "5i_8i" "" "0000181974" "00000133" "90" "305" "-1" "549" "1" "c.305-?_549+?del" "r.del" "p.del" "5i_8i" "" "0000181975" "00000133" "90" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Arg157*)" "7" "" "0000181976" "00000133" "90" "514" "0" "517" "0" "c.514_517del" "r.(?)" "p.(Lys172Phefs*61)" "8" "" "0000181977" "00000133" "90" "520" "0" "520" "0" "c.520C>T" "r.(?)" "p.(Arg174*)" "8" "" "0000181978" "00000133" "90" "550" "-1" "550" "-1" "c.550-1G>C" "r.spl" "p.(Val184Metfs*15)" "8i" "" "0000181979" "00000133" "90" "550" "-1" "655" "1" "c.550-?_655+?del" "r.del" "p.del" "9" "" "0000181980" "00000133" "90" "550" "-1" "1350" "1" "c.550-?_1350+?del" "r.del" "p.del" "8i_15i" "" "0000181981" "00000133" "90" "550" "-1" "1649" "1" "c.550-?_1649+?del" "r.del" "p.del" "8i_17i" "" "0000181982" "00000133" "90" "550" "-1" "7720" "1" "c.550-?_*5704+?del" "r.del" "p.del" "8i_20_" "" "0000181983" "00000133" "90" "655" "1" "655" "2" "c.655+1_655+2dup" "r.spl?" "p.(Val184Metfs*15)" "9i" "" "0000181984" "00000133" "90" "656" "-1" "656" "-1" "c.656-1G>C" "r.spl?" "p.(?)" "9i" "" "0000181985" "00000133" "90" "656" "-1" "1879" "1" "c.656-?_1879+?del" "r.spl" "p.?" "9i_18i" "" "0000181986" "00000133" "90" "687" "0" "687" "0" "c.687del" "r.(?)" "p.(Ser230Profs*4)" "10" "" "0000181987" "00000133" "90" "693" "0" "693" "0" "c.693dup" "r.(?)" "p.(Gly232Trpfs*25)" "10" "" "0000181988" "00000133" "90" "788" "0" "788" "0" "c.788del" "r.(?)" "p.(Leu263*)" "10" "" "0000181989" "00000133" "90" "791" "0" "791" "0" "c.791del" "r.(?)" "p.(Ser264Thrfs*43)" "11" "" "0000181990" "00000133" "90" "908" "0" "908" "0" "c.908del" "r.(?)" "p.(Thr303Lysfs*4)" "11" "" "0000181991" "00000133" "90" "923" "-2" "923" "-2" "c.923-2A>G" "r.spl" "p.?" "11i" "" "0000181992" "00000133" "90" "928" "0" "928" "0" "c.928dup" "r.(?)" "p.(Arg310Lysfs*29)" "12" "" "0000181993" "00000133" "90" "940" "0" "940" "0" "c.940del" "r.(?)" "p.(Ala314Glnfs*77)" "12" "" "0000181994" "00000133" "90" "949" "0" "949" "0" "c.949del" "r.(?)" "p.(Ser317Alafs*74)" "12" "" "0000181995" "00000133" "90" "965" "0" "969" "0" "c.965_969del" "r.(?)" "p.(Asp322Alafs*15 )" "12" "" "0000181996" "00000133" "90" "988" "0" "989" "0" "c.988_989del" "r.(?)" "p.(Ser330Aspfs*8)" "12" "" "0000181997" "00000133" "90" "1018" "0" "1018" "0" "c.1018del" "r.(?)" "p.(Ser340AlafsTer51)" "13" "" "0000181998" "00000133" "90" "1073" "0" "1073" "0" "c.1073G>T" "r.(?)" "p.(Gly358Val)" "14" "" "0000181999" "00000133" "90" "1077" "0" "1077" "0" "c.1077del" "r.(?)" "p.(Ala360Leufs*31)" "14" "" "0000182000" "00000133" "90" "1113" "0" "1113" "0" "c.1113del" "r.(?)" "p.(Ser372Leufs*19)" "14" "" "0000182001" "00000133" "90" "1142" "0" "1142" "0" "c.1142del" "r.(?)" "p.(Ser381Phefs*10)" "14" "" "0000182002" "00000133" "90" "1146" "1" "1146" "1" "c.1146+1G>A" "r.spl" "p.?" "14i" "" "0000182003" "00000133" "90" "1146" "3" "1146" "3" "c.1146+3A>G" "r.spl?" "p.(Gly358Lysfs*4)" "14i" "" "0000182004" "00000133" "90" "1151" "0" "1151" "0" "c.1151del" "r.(?)" "p.(Ser384Thrfs*7)" "15" "" "0000182005" "00000133" "90" "1153" "0" "1153" "0" "c.1153C>T" "r.(?)" "p.(Arg385*)" "15" "" "0000182006" "00000133" "90" "1238" "0" "1238" "0" "c.1238del" "r.(?)" "p.(Gly413Valfs*49)" "15" "" "0000182007" "00000133" "90" "1241" "0" "1241" "0" "c.1241del" "r.(?)" "p.(Gly414Valfs*48)" "15" "" "0000182008" "00000133" "90" "1328" "0" "1328" "0" "c.1328C>G" "r.(?)" "p.(Ser443*)" "15" "" "0000182009" "00000133" "90" "1328" "0" "1328" "0" "c.1328C>G" "r.(?)" "p.(Ser443*)" "15" "" "0000182010" "00000133" "90" "1343" "0" "1343" "0" "c.1343C>G" "r.(?)" "p.(Ser448*)" "15" "" "0000182011" "00000133" "90" "1414" "0" "1414" "0" "c.1414del" "r.(?)" "p.(Val472Phefs*16)" "16" "" "0000182012" "00000133" "90" "1438" "0" "1438" "0" "c.1438C>T" "r.(?)" "p.(Gln480*)" "16" "" "0000182013" "00000133" "90" "1450" "0" "1450" "0" "c.1450del" "r.(?)" "p.(Ser484Profs*4)" "16" "" "0000182014" "00000133" "90" "1471" "0" "1471" "0" "c.1471del" "r.(?)" "p.(Gln491Argfs*44)" "16" "" "0000182015" "00000133" "90" "1472" "0" "1472" "0" "c.1472dup" "r.(?)" "p.(Asp492Glyfs*21)" "16" "" "0000182016" "00000133" "90" "1483" "0" "1483" "0" "c.1483A>T" "r.(?)" "p.(Arg495*)" "16" "" "0000182017" "00000133" "90" "1486" "3" "1486" "6" "c.1486+3_1486+6del" "r.spl?" "p.?" "16i" "" "0000182018" "00000133" "90" "1498" "0" "1498" "0" "c.1498G>T" "r.(?)" "p.(Gly500* )" "17" "" "0000182019" "00000133" "90" "1511" "0" "1511" "0" "c.1511dup" "r.(?)" "p.(Ser505Glufs*8)" "17" "" "0000182020" "00000133" "90" "1515" "0" "1520" "0" "c.1515_1520delinsATTTGAT" "r.(?)" "p.(Ser505Argfs*8)" "17" "" "0000182021" "00000133" "90" "1518" "0" "1518" "0" "c.1518del" "r.(?)" "p.(Ser507Profs*28)" "17" "" "0000182022" "00000133" "90" "1518" "0" "1519" "0" "c.1518_1519insGT" "r.(?)" "p.(Ser507Valfs*29)" "17" "" "0000182023" "00000133" "90" "1521" "0" "1521" "0" "c.1521dup" "r.(?)" "p.(Ser508Leufs*5)" "17" "" "0000182024" "00000133" "90" "1563" "0" "1567" "0" "c.1563_1567del" "r.(?)" "p.(Glu521Aspfs*4)" "17" "" "0000182025" "00000133" "90" "1570" "0" "1570" "0" "c.1570C>T" "r.(?)" "p.(Gln524*)" "17" "" "0000182026" "00000133" "90" "1604" "0" "1604" "0" "c.1604A>G" "r.(?)" "p.(Asp535Gly)" "17" "" "0000182027" "00000133" "90" "1626" "0" "1630" "0" "c.1626_1630del" "r.spl?" "p.(Lys542Asnfs*3)" "17" "" "0000182028" "00000133" "90" "1650" "-2" "1650" "-2" "c.1650-2A>C" "r.(?)" "p.?" "17i" "" "0000182029" "00000133" "90" "1650" "-1" "1650" "-1" "c.1650-1G>A" "r.spl?" "p.?" "17i" "" "0000182030" "00000133" "90" "1689" "0" "1689" "0" "c.1689dup" "r.(?)" "p.(Glu564Argfs*3)" "18" "" "0000182031" "00000133" "90" "1699" "0" "1699" "0" "c.1699A>T" "r.(?)" "p.(Lys567*)" "18" "" "0000182032" "00000133" "90" "1705" "0" "1705" "0" "c.1705C>T" "r.(?)" "p.(Arg569Trp)" "18" "" "0000182033" "00000133" "90" "1726" "0" "1726" "0" "c.1726C>G" "r.(?)" "p.(Arg576Gly)" "18" "" "0000182034" "00000133" "90" "1727" "0" "1727" "0" "c.1727G>A" "r.(?)" "p.(Arg576Gln)" "18" "" "0000182035" "00000133" "90" "1733" "0" "1733" "0" "c.1733G>A" "r.(?)" "p.(Arg578His)" "18" "" "0000182036" "00000133" "90" "1733" "0" "1733" "0" "c.1733G>A" "r.(?)" "p.(Arg578His)" "18" "" "0000182037" "00000133" "90" "1733" "0" "1733" "0" "c.1733G>A" "r.(?)" "p.(Arg578His)" "18" "" "0000182038" "00000133" "90" "1733" "0" "1733" "0" "c.1733G>A" "r.(?)" "p.(Arg578His)" "18" "" "0000182039" "00000133" "90" "1733" "0" "1733" "0" "c.1733G>C" "r.(?)" "p.(Arg578Pro)" "18" "" "0000182040" "00000133" "90" "1738" "0" "1738" "0" "c.1738C>T" "r.(?)" "p.(Arg580Trp)" "18" "" "0000182041" "00000133" "90" "1738" "0" "1738" "0" "c.1738C>T" "r.(?)" "p.(Arg580Trp)" "18" "" "0000182042" "00000133" "90" "1738" "0" "1738" "0" "c.1738C>T" "r.(?)" "p.(Arg580Trp)" "18" "" "0000182043" "00000133" "90" "1738" "0" "1738" "0" "c.1738C>T" "r.(?)" "p.(Arg580Trp)" "18" "" "0000182044" "00000133" "90" "1738" "0" "1738" "0" "c.1738C>T" "r.(?)" "p.(Arg580Trp)" "18" "" "0000182045" "00000133" "90" "1738" "0" "1738" "0" "c.1738C>T" "r.(?)" "p.(Arg580Trp)" "18" "" "0000182046" "00000133" "90" "1739" "0" "1739" "0" "c.1739G>A" "r.(?)" "p.(Arg580Gln)" "18" "" "0000182047" "00000133" "90" "1739" "0" "1739" "0" "c.1739G>A" "r.(?)" "p.(Arg580Gln)" "18" "" "0000182048" "00000133" "90" "1745" "0" "1745" "0" "c.1745G>C" "r.(?)" "p.(Arg582Pro)" "18" "" "0000182049" "00000133" "90" "1759" "0" "1759" "0" "c.1759G>C" "r.(?)" "p.(Ala587Pro)" "18" "" "0000182050" "00000133" "90" "1813" "0" "1813" "0" "c.1813C>T" "r.(?)" "p.(Gln605*)" "18" "" "0000182051" "00000133" "90" "1813" "0" "1813" "0" "c.1813C>T" "r.(?)" "p.(Gln605*)" "18" "" "0000182052" "00000133" "90" "1841" "0" "1841" "0" "c.1841C>T" "r.(?)" "p.(Ala614Val)" "18" "" "0000182053" "00000133" "90" "1867" "0" "1867" "0" "c.1867C>T" "r.(?)" "p.(Gln623*)" "18" "" "0000182054" "00000133" "90" "1876" "0" "1876" "0" "c.1876C>T" "r.(?)" "p.(Arg626*)" "18" "" "0000182055" "00000133" "90" "1876" "0" "1876" "0" "c.1876C>T" "r.(?)" "p.(Arg626*)" "18" "" "0000182056" "00000133" "90" "1876" "0" "1876" "0" "c.1876C>T" "r.(?)" "p.(Arg626*)" "18" "" "0000182057" "00000133" "90" "1957" "0" "1958" "0" "c.1957_1958del" "r.(?)" "p.(Ser653LeufsTer57)" "19" "" "0000195746" "00000133" "90" "0" "0" "0" "0" "c.-612_(145+1_146-1){0}" "NM_032221.4:r.-178_-24::r.146_*5704" "p.?" "3i" "" "0000195747" "00000133" "77" "873" "0" "873" "0" "c.873C>A" "r.(?)" "p.(Tyr291*)" "12" "" "0000195748" "00000133" "77" "990" "0" "990" "0" "c.990G>A" "r.spl?" "p.(Ser330=)" "12" "" "0000195749" "00000133" "77" "1662" "0" "1662" "0" "c.1662del" "r.(?)" "p.(Asp554Glufs*4)" "17" "" "0000195750" "00000133" "77" "1705" "0" "1705" "0" "c.1705C>T" "r.(?)" "p.(Arg569Trp)" "18" "" "0000195751" "00000133" "77" "1726" "0" "1726" "0" "c.1726C>T" "r.(?)" "p.(Arg576*)" "18" "" "0000195752" "00000133" "77" "1733" "0" "1733" "0" "c.1733G>A" "r.(?)" "p.(Arg578His)" "18" "" "0000195753" "00000133" "77" "1841" "0" "1841" "0" "c.1841C>T" "r.(?)" "p.(Ala614Val)" "18" "" "0000195754" "00000133" "77" "1927" "0" "1927" "0" "c.1927G>T" "r.(?)" "p.(Glu643*)" "19" "" "0000195755" "00000133" "77" "514" "0" "517" "0" "c.514_517del" "r.(?)" "p.(Lys172Phefs*61)" "8" "" "0000195756" "00000133" "77" "520" "0" "520" "0" "c.520C>T" "r.(?)" "p.(Arg174*)" "8" "" "0000195757" "00000133" "77" "505" "0" "505" "0" "c.505C>T" "r.(?)" "p.(Gln169*)" "8" "" "0000195758" "00000133" "77" "550" "-1" "550" "-1" "c.550-1G>A" "r.spl?" "p.?" "8i" "" "0000195759" "00000133" "77" "991" "-2" "991" "-2" "c.991-2A>G" "r.spl?" "p.?" "13i" "" "0000195760" "00000133" "77" "1153" "0" "1153" "0" "c.1153C>T" "r.(?)" "p.(Arg385*)" "15" "" "0000195761" "00000133" "77" "1727" "0" "1727" "0" "c.1727G>A" "r.(?)" "p.(Arg576Gln)" "18" "" "0000211214" "00000133" "00" "990" "0" "990" "0" "c.990G>A" "r.(=)" "p.(=)" "12" "" "0000251623" "00000133" "10" "1649" "41" "1649" "41" "c.1649+41T>C" "r.(=)" "p.(=)" "" "" "0000251624" "00000133" "10" "991" "-18" "991" "-18" "c.991-18del" "r.(=)" "p.(=)" "" "" "0000251625" "00000133" "10" "549" "28879" "549" "28879" "c.549+28879del" "r.(=)" "p.(=)" "" "" "0000251626" "00000133" "10" "207" "97" "207" "97" "c.207+97T>A" "r.(=)" "p.(=)" "" "" "0000251627" "00000133" "10" "146" "-46374" "146" "-46374" "c.146-46374T>C" "r.(=)" "p.(=)" "" "" "0000251628" "00000133" "10" "-387" "0" "-387" "0" "c.-387del" "r.(?)" "p.(=)" "" "" "0000252309" "00000133" "30" "790" "-9" "790" "-9" "c.790-9T>C" "r.(=)" "p.(=)" "" "" "0000255321" "00000133" "30" "73" "-3" "73" "-3" "c.73-3T>C" "r.spl?" "p.?" "" "" "0000311762" "00000133" "50" "550" "-22846" "550" "-22846" "c.550-22846A>G" "r.(=)" "p.(=)" "" "" "0000311763" "00000133" "50" "1849" "0" "1849" "0" "c.1849G>A" "r.(?)" "p.(Val617Ile)" "" "" "0000311764" "00000133" "10" "1941" "0" "1941" "0" "c.1941A>G" "r.(?)" "p.(Ser647=)" "" "" "0000311765" "00000133" "30" "208" "-8" "208" "-8" "c.208-8A>G" "r.(=)" "p.(=)" "" "" "0000311766" "00000133" "10" "-47853" "0" "-47853" "0" "c.-47853G>C" "r.(?)" "p.(=)" "" "" "0000311767" "00000133" "10" "305" "-165" "305" "-165" "c.305-165C>T" "r.(=)" "p.(=)" "" "" "0000313255" "00000133" "70" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Arg569Gln)" "" "" "0000314461" "00000133" "10" "1147" "-76" "1147" "-76" "c.1147-76G>A" "r.(=)" "p.(=)" "" "" "0000314462" "00000133" "10" "1350" "102" "1350" "102" "c.1350+102A>T" "r.(=)" "p.(=)" "" "" "0000314463" "00000133" "30" "145" "12" "145" "12" "c.145+12C>A" "r.(=)" "p.(=)" "" "" "0000314464" "00000133" "10" "1649" "40" "1649" "40" "c.1649+40A>T" "r.(=)" "p.(=)" "" "" "0000314465" "00000133" "90" "1841" "0" "1841" "0" "c.1841C>T" "r.(?)" "p.(Ala614Val)" "" "" "0000314466" "00000133" "10" "-43559" "0" "-43559" "0" "c.-43559del" "r.(?)" "p.(=)" "" "" "0000314467" "00000133" "10" "207" "99" "207" "99" "c.207+99A>T" "r.(=)" "p.(=)" "" "" "0000314468" "00000133" "10" "304" "203" "304" "203" "c.304+203G>T" "r.(=)" "p.(=)" "" "" "0000314469" "00000133" "10" "549" "28833" "549" "28833" "c.549+28833A>G" "r.(=)" "p.(=)" "" "" "0000314470" "00000133" "10" "923" "-43" "923" "-43" "c.923-43G>A" "r.(=)" "p.(=)" "" "" "0000316362" "00000133" "30" "1419" "0" "1419" "0" "c.1419G>C" "r.(?)" "p.(Pro473=)" "" "" "0000316363" "00000133" "90" "1721" "0" "1721" "0" "c.1721A>C" "r.(?)" "p.(Asn574Thr)" "" "" "0000325920" "00000133" "50" "176" "0" "176" "0" "c.176G>A" "r.(?)" "p.(Trp59Ter)" "" "" "0000338370" "00000133" "10" "1941" "0" "1941" "0" "c.1941A>G" "r.(?)" "p.(Ser647=)" "" "" "0000338371" "00000133" "90" "1487" "-3" "1487" "-3" "c.1487-3C>G" "r.spl?" "p.?" "" "" "0000338373" "00000133" "90" "990" "1" "990" "1" "c.990+1G>A" "r.spl?" "p.?" "" "" "0000338374" "00000133" "90" "922" "6" "922" "6" "c.922+6T>G" "r.(=)" "p.(=)" "" "" "0000338375" "00000133" "90" "655" "1" "655" "1" "c.655+1G>A" "r.spl?" "p.?" "" "" "0000339047" "00000133" "90" "696" "0" "699" "0" "c.696_699dup" "r.(?)" "p.(Asn234AspfsTer24)" "" "" "0000341366" "00000133" "30" "944" "0" "944" "0" "c.944C>T" "r.(?)" "p.(Ala315Val)" "" "" "0000341521" "00000133" "90" "1841" "0" "1841" "0" "c.1841C>T" "r.(?)" "p.(Ala614Val)" "" "" "0000341995" "00000133" "90" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Arg157Ter)" "" "" "0000342780" "00000133" "90" "1153" "0" "1153" "0" "c.1153C>T" "r.(?)" "p.(Arg385Ter)" "" "" "0000343121" "00000133" "90" "1727" "0" "1727" "0" "c.1727G>A" "r.(?)" "p.(Arg576Gln)" "" "" "0000343123" "00000133" "90" "1726" "0" "1726" "0" "c.1726C>G" "r.(?)" "p.(Arg576Gly)" "" "" "0000343124" "00000133" "90" "1726" "0" "1726" "0" "c.1726C>T" "r.(?)" "p.(Arg576Ter)" "" "" "0000343126" "00000133" "70" "1733" "0" "1733" "0" "c.1733G>T" "r.(?)" "p.(Arg578Leu)" "" "" "0000343127" "00000133" "90" "1733" "0" "1733" "0" "c.1733G>C" "r.(?)" "p.(Arg578Pro)" "" "" "0000343131" "00000133" "90" "1739" "0" "1739" "0" "c.1739G>A" "r.(?)" "p.(Arg580Gln)" "" "" "0000344133" "00000133" "90" "1604" "0" "1604" "0" "c.1604A>G" "r.(?)" "p.(Asp535Gly)" "" "" "0000344864" "00000133" "90" "1438" "0" "1438" "0" "c.1438C>T" "r.(?)" "p.(Gln480Ter)" "" "" "0000345504" "00000133" "10" "1923" "0" "1923" "0" "c.1923G>A" "r.(?)" "p.(Glu641=)" "" "" "0000347190" "00000133" "90" "1134" "0" "1134" "0" "c.1134del" "r.(?)" "p.(Leu379TyrfsTer12)" "" "" "0000347214" "00000133" "90" "1601" "0" "1601" "0" "c.1601T>A" "r.(?)" "p.(Leu534Ter)" "" "" "0000350599" "00000133" "90" "1741" "0" "1741" "0" "c.1741G>T" "r.(?)" "p.(Val581Phe)" "" "" "0000351276" "00000133" "90" "990" "0" "990" "0" "c.990G>A" "r.(?)" "p.(Ser330=)" "" "" "0000358071" "00000133" "90" "72" "804" "73" "-747" "c.72+804_73-747insN[(51_?)]" "r.(?)" "p.(?)" "2i" "GCT[>40]" "0000358072" "00000133" "10" "145" "42209" "145" "42209" "c.145+42209=" "r.(=)" "p.(=)" "3i" "" "0000358073" "00000133" "10" "0" "0" "0" "0" "c.72+817_73-802GCT[12_26]" "r.(?)" "p.(=)" "2i" "" "0000358074" "00000133" "10" "145" "42209" "145" "42209" "c.145+42209=" "r.(?)" "p.(=)" "3i" "" "0000358075" "00000133" "90" "72" "804" "73" "-747" "c.72+804_73-747insN[(51_?)]" "r.(?)" "p.(?)" "2i" "GCT[>40]" "0000358076" "00000133" "10" "0" "0" "0" "0" "c.72+817_73-802GCT[12_35]" "r.(?)" "p.(=)" "3i" "" "0000358077" "00000133" "90" "72" "804" "73" "-747" "c.72+804_73-747insN[(51_?)]" "r.(?)" "p.(?)" "2i" "GCT[>40]" "0000358078" "00000133" "10" "145" "42209" "145" "42209" "c.145+42209=" "r.(=)" "p.(=)" "3i" "" "0000358079" "00000133" "10" "72" "817" "73" "-802" "c.72+817_73-802GCT[12]" "r.(?)" "p.(=)" "2i" "" "0000358082" "00000133" "10" "0" "0" "0" "0" "c.72+817_73-802GCT[12_35]" "r.(?)" "p.(=)" "3i" "" "0000358083" "00000133" "90" "72" "804" "73" "-747" "c.72+804_73-747insN[(51_?)]" "r.(?)" "p.(?)" "2i" "GCT[>40]" "0000358084" "00000133" "10" "145" "42209" "145" "42209" "c.145+42209=" "r.(=)" "p.(=)" "3i" "" "0000358085" "00000133" "10" "72" "817" "73" "-802" "c.72+817_73-802GCT[21]" "r.(?)" "p.(=)" "2i" "" "0000358086" "00000133" "10" "145" "42209" "145" "42209" "c.145+42209=" "r.(?)" "p.(=)" "3i" "" "0000358087" "00000133" "90" "72" "804" "73" "-747" "c.72+804_73-747insN[(51_?)]" "r.(?)" "p.(?)" "2i" "GCT[>40]" "0000358088" "00000133" "10" "0" "0" "0" "0" "c72+817_73-802GCT[12_35]" "r.(?)" "p.(=)" "3i" "" "0000358089" "00000133" "90" "72" "804" "73" "-747" "c.72+804_73-747insN[(51_?)]" "r.(?)" "p.(?)" "2i" "GCT[>40]" "0000358090" "00000133" "10" "145" "42209" "145" "42209" "c.145+42209=" "r.(=)" "p.(=)" "3i" "" "0000358091" "00000133" "90" "72" "804" "73" "-747" "c.72+804_73-747insN[(81_?)]" "r.(?)" "p.(?)" "1i" "GCT[>50]" "0000407978" "00000133" "00" "1727" "0" "1727" "0" "c.1727G>A" "r.(?)" "p.(Arg576Gln)" "" "" "0000565099" "00000133" "50" "1516" "0" "1516" "0" "c.1516G>A" "r.(?)" "p.(Val506Ile)" "" "" "0000565102" "00000133" "10" "656" "-182" "656" "-182" "c.656-182T>A" "r.(=)" "p.(=)" "" "" "0000565103" "00000133" "70" "654" "0" "654" "0" "c.654A>G" "r.(?)" "p.(Gln218=)" "" "" "0000565104" "00000133" "90" "520" "0" "520" "0" "c.520C>T" "r.(?)" "p.(Arg174Ter)" "" "" "0000565105" "00000133" "90" "499" "1" "499" "1" "c.499+1G>A" "r.spl?" "p.?" "" "" "0000565106" "00000133" "90" "415" "0" "415" "0" "c.415del" "r.(?)" "p.(Leu139PhefsTer95)" "" "" "0000565107" "00000133" "10" "208" "-122" "208" "-122" "c.208-122C>A" "r.(=)" "p.(=)" "" "" "0000565108" "00000133" "30" "146" "-8" "146" "-8" "c.146-8G>A" "r.(=)" "p.(=)" "" "" "0000565109" "00000133" "10" "72" "37" "72" "37" "c.72+37A>G" "r.(=)" "p.(=)" "" "" "0000565110" "00000133" "50" "-43295" "0" "-43295" "0" "c.-43295C>T" "r.(?)" "p.(=)" "" "" "0000617207" "00000133" "90" "1486" "1" "1486" "1" "c.1486+1G>T" "r.spl?" "p.?" "" "" "0000617208" "00000133" "50" "1319" "0" "1319" "0" "c.1319G>C" "r.(?)" "p.(Gly440Ala)" "" "" "0000617209" "00000133" "90" "1028" "0" "1028" "0" "c.1028C>G" "r.(?)" "p.(Ser343Ter)" "" "" "0000624883" "00000133" "90" "1153" "0" "1153" "0" "c.1153C>T" "r.(?)" "p.(Arg385Ter)" "" "" "0000631932" "00000133" "90" "1899" "0" "1899" "0" "c.1899dup" "r.(?)" "p.(Ala634Serfs*77)" "" "" "0000649840" "00000133" "90" "1570" "0" "1570" "0" "c.1570C>T" "r.(?)" "p.(Gln524*)" "" "" "0000649841" "00000133" "30" "944" "0" "944" "0" "c.944C>T" "r.(?)" "p.(Ala315Val)" "" "" "0000649842" "00000133" "90" "680" "0" "680" "0" "c.680G>T" "r.(?)" "p.(Trp227Leu)" "" "" "0000658412" "00000133" "50" "1880" "-9" "1880" "-9" "c.1880-9C>T" "r.(=)" "p.(=)" "" "" "0000658413" "00000133" "90" "1771" "0" "1771" "0" "c.1771C>T" "r.(?)" "p.(Leu591Phe)" "" "" "0000659734" "00000133" "90" "922" "5" "922" "5" "c.922+5G>A" "r.790_922del" "p.Cys296_Ala308delinsSer" "" "" "0000660093" "00000133" "50" "1070" "-2" "1070" "-2" "c.1070-2A>G" "r.spl" "p.?" "" "" "0000660597" "00000133" "70" "1487" "-5" "1487" "-5" "c.1487-5G>A" "r.spl" "p.(Arg495_Gly496insAla)" "" "" "0000666152" "00000133" "90" "1295" "0" "1296" "0" "c.1295_1296del" "r.(?)" "p.(Gly432Alafs*24)" "" "" "0000667306" "00000133" "70" "1153" "0" "1153" "0" "c.1153C>T" "r.(?)" "p.(Arg385*)" "" "" "0000667402" "00000133" "90" "759" "0" "759" "0" "c.759C>G" "r.(?)" "p.(Ser253Arg)" "" "" "0000681176" "00000133" "70" "1486" "1" "1486" "1" "c.1486+1G>A" "r.spl?" "p.?" "" "" "0000683353" "00000133" "70" "550" "-1" "550" "-1" "c.550-1G>A" "r.spl" "p.?" "" "" "0000683354" "00000133" "70" "505" "0" "505" "0" "c.505C>T" "r.(?)" "p.(Gln169*)" "" "" "0000692618" "00000133" "30" "1299" "0" "1299" "0" "c.1299G>A" "r.(?)" "p.(Leu433=)" "" "" "0000726931" "00000133" "70" "1849" "0" "1849" "0" "c.1849G>A" "r.(?)" "p.(Val617Ile)" "" "" "0000726932" "00000133" "90" "1775" "0" "1775" "0" "c.1775del" "r.(?)" "p.(Gly592AlafsTer18)" "" "" "0000726933" "00000133" "30" "1299" "0" "1299" "0" "c.1299G>A" "r.(?)" "p.(Leu433=)" "" "" "0000726934" "00000133" "30" "966" "0" "966" "0" "c.966T>C" "r.(?)" "p.(Asp322=)" "" "" "0000726935" "00000133" "50" "466" "0" "466" "0" "c.466C>A" "r.(?)" "p.(Pro156Thr)" "" "" "0000726936" "00000133" "30" "450" "0" "450" "0" "c.450G>A" "r.(?)" "p.(Gln150=)" "" "" "0000726937" "00000133" "30" "305" "-134" "305" "-134" "c.305-134C>T" "r.(=)" "p.(=)" "" "" "0000726938" "00000133" "50" "224" "0" "224" "0" "c.224C>G" "r.(?)" "p.(Thr75Ser)" "" "" "0000726939" "00000133" "30" "201" "0" "201" "0" "c.201G>A" "r.(?)" "p.(Pro67=)" "" "" "0000785870" "00000133" "90" "1486" "1" "1486" "1" "c.1486+1G>T" "r.spl?" "p.?" "" "" "0000787067" "00000133" "70" "550" "-2" "550" "-2" "c.550-2A>C" "r.spl" "p.?" "8i" "" "0000787179" "00000133" "50" "990" "0" "990" "0" "c.990G>A" "r.spl" "p.?" "12" "" "0000787536" "00000133" "50" "826" "0" "826" "0" "c.826A>T" "r.(?)" "p.(Ser276Cys)" "11" "" "0000787557" "00000133" "50" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Arg310Lys)" "12" "" "0000808531" "00000133" "50" "1198" "0" "1198" "0" "c.1198C>A" "r.(?)" "p.(Leu400Ile)" "" "" "0000808532" "00000133" "30" "966" "0" "966" "0" "c.966T>C" "r.(?)" "p.(Asp322=)" "" "" "0000808533" "00000133" "90" "707" "0" "707" "0" "c.707del" "r.(?)" "p.(Pro236Leufs*28)" "" "" "0000836995" "00000133" "70" "1739" "0" "1739" "0" "c.1739G>A" "r.(?)" "p.(Arg580Gln)" "" "" "0000836996" "00000133" "70" "1739" "0" "1739" "0" "c.1739G>A" "r.(?)" "p.(Arg580Gln)" "" "" "0000840052" "00000133" "50" "1365" "0" "1365" "0" "c.1365del" "r.(?)" "p.(Glu456LysfsTer6)" "" "" "0000840053" "00000133" "70" "1375" "0" "1375" "0" "c.1375del" "r.(?)" "p.(Val459TrpfsTer3)" "" "" "0000841157" "00000133" "90" "1153" "0" "1153" "0" "c.1153C>T" "r.(?)" "p.(Arg385Ter)" "" "" "0000855330" "00000133" "30" "2021" "-10" "2021" "-10" "c.*5-10C>T" "r.(=)" "p.(=)" "" "" "0000855331" "00000133" "30" "891" "0" "891" "0" "c.891G>A" "r.(?)" "p.(Thr297=)" "" "" "0000855332" "00000133" "30" "305" "-112" "305" "-112" "c.305-112C>A" "r.(=)" "p.(=)" "" "" "0000865721" "00000133" "30" "1551" "0" "1551" "0" "c.1551C>T" "r.(?)" "p.(Asp517=)" "" "" "0000865722" "00000133" "30" "1501" "0" "1501" "0" "c.1501C>T" "r.(?)" "p.(Leu501=)" "" "" "0000865723" "00000133" "30" "549" "28644" "549" "28644" "c.549+28644G>T" "r.(=)" "p.(=)" "" "" "0000865724" "00000133" "30" "-21" "8" "-21" "8" "c.-21+8C>A" "r.(=)" "p.(=)" "" "" "0000865725" "00000133" "30" "-453" "0" "-453" "0" "c.-453G>A" "r.(?)" "p.(=)" "" "" "0000894603" "00000133" "90" "1876" "0" "1876" "0" "c.1876C>T" "r.(?)" "p.(Arg626*)" "" "" "0000894604" "00000133" "50" "633" "0" "633" "0" "c.633C>G" "r.(?)" "p.(Phe211Leu)" "" "" "0000930970" "00000133" "90" "1486" "1" "1486" "1" "c.1486+1G>A" "r.spl?" "p.?" "" "" "0000933293" "00000133" "70" "1726" "0" "1726" "0" "c.1726C>T" "r.(?)" "p.(Arg576*)" "" "" "0000939804" "00000133" "70" "1726" "0" "1726" "0" "c.1726C>T" "r.(?)" "p.(Arg576Ter)" "18" "" "0000939836" "00000133" "70" "1710" "0" "1710" "0" "c.1710G>C" "r.(?)" "p.(Arg570Ser)" "18" "" "0000939900" "00000133" "70" "1147" "-255" "1350" "179" "c.(?_1147-255)_(1350+179_?)del" "r.?" "p.?" "16" "" "0000945915" "00000133" "50" "1495" "0" "1495" "0" "c.1495C>A" "r.(?)" "p.(Pro499Thr)" "" "" "0000951153" "00000133" "90" "1727" "0" "1727" "0" "c.1727G>A" "r.(?)" "p.(Arg576Gln)" "" "" "0000951154" "00000133" "50" "1478" "0" "1478" "0" "c.1478C>A" "r.(?)" "p.(Pro493His)" "" "" "0000951155" "00000133" "90" "514" "0" "517" "0" "c.514_517del" "r.(?)" "p.(Lys172Phefs*61)" "" "" "0000954770" "00000133" "70" "1880" "-3" "1880" "-3" "c.1880-3C>G" "r.spl?" "p.?" "" "" "0000960240" "00000133" "70" "1165" "0" "1165" "0" "c.1165C>T" "r.(?)" "p.(Arg389Cys)" "" "" "0000969438" "00000133" "90" "764" "0" "764" "0" "c.764dup" "r.(?)" "p.(Cys255Trpfs*2)" "" "" "0001004184" "00000133" "50" "1283" "0" "1283" "0" "c.1283G>T" "r.(?)" "p.(Gly428Val)" "" "" "0001004185" "00000133" "50" "989" "0" "989" "0" "c.989C>T" "r.(?)" "p.(Ser330Leu)" "" "" "0001004186" "00000133" "30" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Asp193Asn)" "" "" "0001004187" "00000133" "50" "550" "-22764" "550" "-22764" "c.550-22764C>T" "r.(=)" "p.(=)" "" "" "0001004188" "00000133" "30" "412" "0" "412" "0" "c.412A>G" "r.(?)" "p.(Thr138Ala)" "" "" "0001004189" "00000133" "30" "-47795" "0" "-47795" "0" "c.-47795T>C" "r.(?)" "p.(=)" "" "" "0001004190" "00000133" "50" "-47871" "0" "-47871" "0" "c.-47871A>T" "r.(?)" "p.(=)" "" "" "0001011939" "00000133" "90" "520" "0" "520" "0" "c.520C>T" "r.(?)" "p.(Arg174Ter)" "" "" "0001017817" "00000133" "90" "1732" "0" "1732" "0" "c.1732C>T" "r.(?)" "p.(Arg578Cys)" "18" "" "0001019463" "00000133" "70" "1721" "0" "1721" "0" "c.1721A>G" "r.(?)" "p.(Asn574Ser)" "18" "" "0001030933" "00000133" "70" "1727" "0" "1727" "0" "c.1727G>C" "r.(?)" "p.(Arg576Pro)" "18" "" "0001042469" "00000133" "50" "11963" "0" "11963" "0" "c.*9947C>A" "r.(=)" "p.(=)" "" "" "0001042470" "00000133" "30" "1487" "-5" "1487" "-5" "c.1487-5G>A" "r.spl?" "p.?" "" "" "0001042471" "00000133" "30" "550" "-19994" "550" "-19994" "c.550-19994A>T" "r.(=)" "p.(=)" "" "" "0001042472" "00000133" "50" "550" "-22808" "550" "-22808" "c.550-22808A>T" "r.(=)" "p.(=)" "" "" "0001042473" "00000133" "30" "549" "28687" "549" "28687" "c.549+28687G>A" "r.(=)" "p.(=)" "" "" "0001042474" "00000133" "70" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Gln147*)" "" "" "0001042475" "00000133" "30" "305" "-304" "305" "-304" "c.305-304G>A" "r.(=)" "p.(=)" "" "" "0001042476" "00000133" "30" "146" "-41450" "146" "-41450" "c.146-41450C>G" "r.(=)" "p.(=)" "" "" "0001042477" "00000133" "30" "73" "-775" "73" "-775" "c.73-775T>C" "r.(=)" "p.(=)" "" "" "0001042478" "00000133" "30" "-47679" "0" "-47679" "0" "c.-47679A>G" "r.(?)" "p.(=)" "" "" "0001042479" "00000133" "30" "-49070" "0" "-49070" "0" "c.-49070G>A" "r.(?)" "p.(=)" "" "" "0001047174" "00000133" "70" "1841" "0" "1841" "0" "c.1841C>T" "r.(?)" "p.(Ala614Val)" "" "" "0001047536" "00000133" "70" "887" "0" "887" "0" "c.887del" "r.(887del)" "p.(Cys296Leufs*11)" "11" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 197 "{{screeningid}}" "{{variantid}}" "0000000029" "0000000681" "0000037294" "0000064419" "0000037295" "0000064420" "0000037296" "0000064421" "0000037297" "0000064422" "0000037298" "0000064423" "0000037299" "0000064424" "0000037300" "0000064425" "0000037301" "0000064426" "0000037302" "0000064427" "0000037303" "0000064428" "0000050440" "0000079420" "0000050466" "0000079669" "0000050483" "0000079672" "0000101679" "0000164577" "0000111865" "0000179023" "0000113106" "0000181947" "0000113106" "0000195746" "0000113107" "0000181948" "0000113108" "0000181949" "0000113109" "0000181950" "0000113110" "0000181951" "0000113111" "0000181952" "0000113112" "0000181953" "0000113113" "0000181954" "0000113114" "0000181955" "0000113115" "0000181956" "0000113116" "0000181957" "0000113117" "0000181958" 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