### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SMARCA4) # 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}}" "SMARCA4" "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4" "19" "p13.3" "unknown" "NG_011556.2" "UD_132084488629" "" "https://www.LOVD.nl/SMARCA4" "" "1" "11100" "6597" "603254" "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/SMARCA4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-06-25 00:00:00" "00006" "2018-02-01 14:26:21" "00000" "2025-07-08 13:22:38" ## 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}}" "00025766" "SMARCA4" "transcript variant 3" "002" "NM_003072.3" "" "NP_003063.2" "" "" "" "-284" "5410" "4944" "11071598" "11172958" "00006" "2022-12-08 09:50:20" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 28 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00001" "JBS" "Johanson-Blizzard syndrome (JBS)" "AR" "243800" "" "" "" "00001" "2012-05-16 14:39:33" "00006" "2021-12-10 21:51:32" "00002" "JBTS1" "Joubert syndrome, type 1 (JBTS1)" "AR" "213300" "" "" "" "00006" "2012-05-17 22:47:36" "00006" "2021-12-10 21:51:32" "00003" "JBTS13" "Joubert syndrome, type 13 (JBTS13)" "AR" "614173" "" "" "" "00006" "2012-05-17 22:48:47" "00006" "2021-12-10 21:51:32" "00004" "KTZS" "Kohlschutter-Tonz syndrome" "AR" "226750" "" "" "" "00002" "2012-05-23 08:55:16" "00006" "2021-12-10 21:51:32" "00005" "MDDGC5;LGMDR9;LGMD2I" "dystrophy-dystroglycanopathy, muscular, (limb-girdle), type C5 (LGMDR9, LGMD2I)" "AR" "607155" "" "" "" "00006" "2012-06-11 11:22:53" "00006" "2024-01-12 21:52:26" "00006" "IVA" "isovaleric acidemia (IVA)" "AR" "243500" "" "" "" "00001" "2012-06-15 15:58:49" "00001" "2021-07-01 15:09:07" "00007" "LCCS1" "contracture syndrome, lethal, congenital, type 1" "AR" "253310" "" "" "" "00006" "2012-06-29 14:23:06" "00006" "2023-08-06 22:40:03" "00008" "CAAHD" "arthrogryposis, lethal, with anterior horn cell, congenital (CAAHD)" "AR" "611890" "" "" "" "00006" "2012-06-29 14:23:57" "00006" "2020-07-21 21:34:09" "00009" "EPM1A" "epilepsy, myoclonic, progressive, type 1A (EPM1A, Unverricht and Lundborg)" "AR" "254800" "" "" "" "00006" "2012-06-29 14:54:52" "00006" "2020-11-13 09:46:33" "00010" "MCLMR" "microcephaly with/without chorioretinopathy, lymphedema, or mental retardation (MCLMR)" "AD" "152950" "" "" "" "00006" "2012-06-29 16:51:23" "00006" "2020-02-10 09:10:25" "00011" "USH3B" "Usher syndrome, type 3B (USH-3B)" "AR" "614504" "" "" "" "00006" "2012-06-29 17:09:32" "00006" "2021-12-10 21:51:32" "00012" "PSORS" "psoriasis, pustular, generalized (PSORS)" "" "" "" "" "" "00006" "2012-07-06 21:50:32" "00006" "2019-08-12 13:38:21" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45" "00156" "CSS" "Coffin-Siris syndrome (CSS)" "" "" "" "" "" "00001" "2013-06-27 15:22:30" "00006" "2021-12-10 21:51:32" "00157" "NCBRS" "Nicolaides-Baraitser syndrome (NCBRS)" "AD" "601358" "" "" "" "00001" "2013-06-27 15:22:58" "00006" "2021-12-10 21:51:32" "00168" "PHARC" "polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract (PHARC)" "AR" "612674" "" "" "" "00006" "2013-07-29 22:25:56" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00639" "cancer, lung" "cancer, lung (adenocarcinoma)" "" "211980" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00755" "RTPS1" "tumor, rhabdoid, predisposition syndrome, type 1 (RTPS-1)" "" "609322" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00928" "NSCLC" "cancer, lung, non-small cell (NSCLC)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-06-19 20:55:44" "01017" "RTPS2" "tumor, rhabdoid, predisposition syndrome, type 2 (RTPS-2)" "AD" "613325" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01018" "CSS4;MRD16" "Coffin-Siris syndrome, type 4 (CSS4, mental retardation, autosomal dominant syndrome, type 16 (MRD16))" "AD" "614609" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01544" "RB1" "retinoblastoma, type 1" "AD;SMu" "180200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-01-14 18:01:23" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "05489" "cancer, colon" "cancer, colon" "" "" "" "" "" "00006" "2018-10-26 16:33:57" "" "" "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 = 4 "{{geneid}}" "{{diseaseid}}" "SMARCA4" "00139" "SMARCA4" "00156" "SMARCA4" "01017" "SMARCA4" "01018" ## Individuals ## Do not remove or alter this header ## ## Count = 137 "{{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}}" "00001503" "" "" "" "1" "" "00074" "{PMID:Santen 2013:23929686}" "" "M" "" "" "" "0" "" "" "" "Pat2" "00001504" "" "" "" "1" "" "00074" "{PMID:Santen 2013:23929686}" "" "F" "" "" "" "0" "" "" "" "Pat5" "00001505" "" "" "" "1" "" "00074" "{PMID:Santen 2013:23929686}, {PMID:van der Sluijs 2019:30349098}, van der Sluijs 2024 (submitted)" "" "F" "" "" "" "0" "" "" "" "Pat10;Pat1;Pat256" "00001510" "" "" "" "1" "" "00074" "{PMID:Santen 2013:23929686}, {PMID:van der Sluijs 2019:30349098}" "" "M" "" "" "" "0" "" "" "" "Pat16;Pat5" "00001511" "" "" "" "1" "" "00074" "{PMID:Santen 2013:23929686}" "" "F" "" "" "" "0" "" "" "" "Pat18" "00001513" "" "" "" "1" "" "00074" "{PMID:Santen 2013:23929686}, {PMID:van der Sluijs 2019:30349098}, van der Sluijs 2024 (submitted)" "" "F" "" "" "" "0" "" "" "" "Pat20;Pat7;Pat317" "00001514" "" "" "" "1" "" "00074" "" "" "F" "" "" "" "" "" "" "" "" "00001519" "" "" "" "1" "" "00074" "{PMID:Santen 2013:23929686}" "" "F" "" "" "" "0" "" "" "" "Pat26" "00001521" "" "" "" "1" "" "00074" "{PMID:Santen 2013:23929686}, {PMID:van der Sluijs 2019:30349098}" "" "M" "" "" "" "0" "" "" "" "Pat28;Pat10" "00001524" "" "" "" "1" "" "00074" "{PMID:Santen 2013:23929686}, {PMID:van der Sluijs 2019:30349098}" "" "M" "" "" "" "0" "" "" "" "Pat31;Pat25" "00001525" "" "" "" "1" "" "00074" "" "" "M" "" "" "" "" "" "" "" "" "00001526" "" "" "" "1" "" "00074" "{PMID:Santen 2013:23929686}" "" "M" "" "" "" "0" "" "" "" "Pat33" "00001528" "" "" "" "1" "" "00074" "" "" "M" "" "" "" "" "" "" "" "" "00001529" "" "" "" "1" "" "00074" "{PMID:Santen 2013:23929686}" "" "M" "" "" "" "0" "" "" "" "Pat37" "00001530" "" "" "" "1" "" "00074" "" "" "F" "" "" "" "" "" "" "" "" "00001531" "" "" "" "1" "" "00074" "{PMID:Santen 2013:23929686}, {PMID:van der Sluijs 2019:30349098}, van der Sluijs 2024 (submitted)" "" "M" "" "" "" "0" "" "" "" "Pat39;Pat27;Pat324" "00001532" "" "" "" "1" "" "00074" "" "" "F" "" "" "" "" "" "" "" "" "00001533" "" "" "" "1" "" "00074" "" "" "F" "" "" "" "" "" "" "" "" "00001534" "" "" "" "1" "" "00074" "{PMID:Santen 2013:23929686}" "" "F" "" "" "" "0" "" "" "" "Pat42" "00001535" "" "" "" "1" "" "00074" "{PMID:Santen 2013:23929686}" "" "F" "" "" "" "0" "" "" "" "Pat43" "00001537" "" "" "" "1" "" "00074" "" "" "F" "" "" "" "" "" "" "" "" "00001538" "" "" "" "1" "" "00074" "{PMID:Santen 2013:23929686}" "" "M" "" "" "" "0" "" "" "" "Pat46" "00001539" "" "" "" "1" "" "00074" "" "" "M" "" "" "" "" "" "" "" "" "00001540" "" "" "" "1" "" "00074" "{PMID:Santen 2013:23929686}" "" "F" "" "" "" "0" "" "" "" "Pat48" "00001541" "" "" "" "1" "" "00074" "{PMID:Santen 2013:23929686}, {PMID:van der Sluijs 2019:30349098}" "" "F" "" "" "" "0" "" "" "" "Pat49;Pat32" "00001542" "" "" "" "1" "" "00074" "{PMID:Santen 2013:23929686}, {PMID:van der Sluijs 2019:30349098}" "" "F" "" "" "" "0" "" "" "" "Pat50;Pat33" "00001543" "" "" "" "1" "" "00074" "{PMID:Santen 2013:23929686}, {PMID:van der Sluijs 2019:30349098}, van der Sluijs 2024 (submitted)" "" "F" "" "" "" "0" "" "" "" "Pat51;Pat34;Pat328" "00001544" "" "" "" "1" "" "00074" "{PMID:Santen 2013:23929686}" "" "M" "" "" "" "0" "" "" "" "Pat52" "00001546" "" "" "" "1" "" "00074" "{PMID:Santen 2013:23929686}, {PMID:van der Sluijs 2019:30349098}, van der Sluijs 2024 (submitted)" "" "F" "" "" "" "0" "" "" "" "Pat55;Pat39;Pat329" "00001558" "" "" "" "1" "" "00074" "{PMID:Santen 2013:23929686}" "" "M" "" "" "" "0" "" "" "" "Pat70" "00047878" "" "" "" "1" "" "00004" "" "" "M" "" "" "" "0" "" "" "" "" "00047879" "" "" "" "1" "" "00004" "" "" "F" "" "" "" "0" "" "" "" "" "00047880" "" "" "" "1" "" "00004" "" "" "F" "" "" "" "0" "" "" "" "" "00048008" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00048033" "" "" "" "1" "" "01358" "{PMID:Tsurusaki 2014:23815551}" "" "M" "" "Japan" "" "0" "" "" "" "Pat32" "00048034" "" "" "" "1" "" "01358" "{PMID:Tsurusaki 2012:22426308}, {PMID:Tsurusaki 2014:23815551}" "" "M" "" "Japan" "" "0" "" "" "" "Pat9;Pat9" "00048035" "" "" "" "1" "" "01358" "{PMID:Tsurusaki 2012:22426308}, {PMID:Tsurusaki 2014:23815551}" "" "M" "" "Japan" "" "0" "" "" "" "Pat7;Pat7" "00048036" "" "" "" "1" "" "01358" "{PMID:Tsurusaki 2012:22426308}, {PMID:Tsurusaki 2014:23815551}" "" "M" "" "Japan" "" "0" "" "" "" "Pat5;Pat5" "00048037" "" "" "" "1" "" "01358" "{PMID:Tsurusaki 2014:23815551}" "" "F" "" "Japan" "" "0" "" "" "" "Pat14" "00048038" "" "" "" "1" "" "01358" "{PMID:Tsurusaki 2012:22426308}, {PMID:Tsurusaki 2014:23815551}" "" "M" "" "Japan" "" "0" "" "" "" "Pat16;Pat16" "00048039" "" "" "" "1" "" "01358" "{PMID:Tsurusaki 2012:22426308}, {PMID:Tsurusaki 2014:23815551}" "" "F" "" "Japan" "" "0" "" "" "" "Pat25;Pat25" "00048040" "" "" "" "1" "" "01358" "{PMID:Tsurusaki 2012:22426308}, {PMID:Tsurusaki 2014:23815551}" "" "M" "" "Japan" "" "0" "" "" "" "Pat17;Pat17" "00048051" "" "" "" "1" "" "01358" "{PMID:Santen 2013:23929686}" "" "M" "" "" "" "" "" "" "" "" "00050406" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected sibling(s)" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00104028" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-729A" "00152030" "" "" "" "3" "" "00006" "" "3-generation family, 2 affected sisters, unaffected father" "M" "" "" "" "0" "" "" "" "" "00152031" "" "" "" "1" "" "00006" "" "PatIII2" "F" "" "" "" "0" "" "" "" "" "00152032" "" "" "" "1" "" "00006" "" "PatIII3" "F" "" "" "" "0" "" "" "" "" "00152033" "" "" "" "1" "" "00006" "" "cell line" "" "" "" "" "0" "" "" "" "" "00152034" "" "" "" "1" "" "00006" "" "cell line" "" "" "" "" "0" "" "" "" "" "00152035" "" "" "" "1" "" "00006" "" "cell line" "" "" "" "" "0" "" "" "" "" "00152036" "" "" "" "1" "" "00006" "" "cell line" "" "" "" "" "0" "" "" "" "" "00152037" "" "" "" "1" "" "00006" "" "cell line" "" "" "" "" "0" "" "" "" "" "00152038" "" "" "" "1" "" "00006" "" "cell line" "" "" "" "" "0" "" "" "" "" "00152039" "" "" "" "1" "" "00006" "" "cell line" "" "" "" "" "0" "" "" "" "" "00152040" "" "" "" "1" "" "00006" "" "cell line" "" "" "" "" "0" "" "" "" "" "00152041" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00152042" "" "" "" "1" "" "00006" "" "cell line" "" "" "" "" "0" "" "" "" "" "00173919" "" "" "" "1" "" "00008" "{PMID:Hasselblatt 2014:25060813}" "" "M" "" "" "" "0" "" "" "" "" "00173946" "" "" "" "1" "" "00008" "{PMID:Hasselblatt 2014:25060813}" "" "F" "" "" "" "0" "" "" "" "" "00173957" "" "" "" "1" "" "00008" "{PMID:Hasselblatt 2014: PMID 25060813}, {PMID:Witkowski L logy, PMID 23775540}," "" "F" "" "" "" "0" "" "" "" "" "00173968" "" "" "" "1" "" "00008" "{PMID:Hasselblatt 2014: PMID 25060813}, {PMID:Schneppenheim R 2010, PMID 20137775}," "" "F" "" "" "" "0" "" "" "" "" "00173979" "" "" "" "1" "" "00008" "{PMID:Hasselblatt 2014:25060813}" "" "F" "" "" "" "0" "" "" "" "" "00173990" "" "" "" "1" "" "00008" "{PMID:Hasselblatt 2014:25060813}" "" "M" "" "" "" "0" "" "" "" "" "00174098" "" "" "" "1" "" "00008" "{PMID:Hasselblatt 2014:25060813}" "" "F" "" "" "" "0" "" "" "" "" "00174180" "" "" "" "1" "" "00008" "{PMID:Hasselblatt 2014:25060813}" "" "M" "" "" "" "0" "" "" "" "" "00174181" "" "" "" "1" "" "00008" "{PMID:Moes-Sosnowska J 2015:25886974}" "" "" "" "" "" "0" "" "" "" "III4" "00174182" "" "" "" "1" "" "00008" "{PMID:Moes-Sosnowska J 2015:25886974}" "" "" "" "" "" "0" "" "" "" "I1" "00174183" "" "" "" "1" "" "00008" "{PMID:Hasselblatt 2014: PMID 25060813}, {PMID:Schneppenheim R 2010, PMID 20137775}," "" "M" "" "" "" "0" "" "" "" "" "00174184" "" "" "" "1" "" "00008" "{PMID:Witkowski L 2016:27866340}" "no evidence of disease at 14y" "F" "" "" "" "0" "" "" "" "III4" "00174185" "" "" "" "1" "" "00008" "{PMID:Witkowski L 2016:27866340}" "no evidence of disease at 7y" "F" "" "" "" "0" "" "" "" "IV1" "00174191" "" "" "" "1" "" "00008" "{PMID:Hasselblatt 2014:25060813}" "" "M" "" "" "" "0" "" "" "" "" "00174202" "" "" "" "1" "" "00008" "{PMID:Hasselblatt 2014:25060813}" "" "M" "" "" "" "0" "" "" "" "" "00174212" "" "" "" "1" "" "00008" "{PMID:Hasselblatt 2014:25060813}" "" "F" "" "" "" "0" "" "" "" "" "00174213" "" "" "" "1" "" "00008" "{PMID:Hasselblatt 2014:25060813}" "" "F" "" "" "" "0" "" "" "" "" "00174214" "" "" "" "1" "" "00008" "{PMID:Moes-Sosnowska J 2015:25886974}" "" "" "" "" "" "0" "" "" "" "III1" "00174215" "" "" "" "1" "" "00008" "{PMID:Moes-Sosnowska J 2015:25886974}" "" "" "" "" "" "0" "" "" "" "III2" "00174216" "" "" "" "1" "" "00008" "{PMID:Moes-Sosnowska J 2015:25886974}" "" "" "" "" "" "0" "" "" "" "II3" "00174217" "" "" "" "1" "" "00008" "{PMID:Moes-Sosnowska J 2015:25886974}" "" "" "" "" "" "0" "" "" "" "III3" "00174248" "" "" "" "1" "" "00008" "{PMID:Hasselblatt 2014: PMID 25060813}, {PMID:Schneppenheim R 2010, PMID 20137775}," "" "F" "" "" "" "0" "" "" "" "" "00174260" "" "" "" "1" "" "00008" "{PMID:Moes-Sosnowska J 2015:25886974}" "" "F" "" "" "" "0" "" "" "" "II1" "00174261" "" "" "" "1" "" "00008" "{PMID:Lavrut PM 2016:26230154}" "" "F" "" "" "" "0" "" "" "" "" "00174262" "" "" "" "1" "" "00008" "{PMID:Rabinovich A 2015:26076162}" "" "F" "" "" "" "0" "" "" "" "" "00174263" "" "" "" "1" "" "00008" "{PMID:Witkowski L 2016:26975901}" "" "F" "" "" "" "0" "" "" "" "NF10" "00174264" "" "" "" "1" "" "00008" "{PMID:Witkowski L 2016:26975901}" "" "F" "" "" "" "0" "" "" "" "NF13" "00174265" "" "" "" "1" "" "00008" "{PMID:Witkowski L 2014:24658002}" "" "F" "" "" "" "0" "" "" "" "FA1A" "00174266" "" "" "" "1" "" "00008" "{PMID:Witkowski L 2014:24658002}" "" "F" "" "" "" "0" "" "" "" "FA1B" "00174267" "" "" "" "1" "" "00008" "{PMID:Witkowski L 2014:24658002}" "" "F" "" "" "" "0" "" "" "" "FA2A" "00174268" "" "" "" "1" "" "00008" "{PMID:Witkowski L 2014:24658002}" "" "F" "" "" "" "0" "" "" "" "FA2B" "00174269" "" "" "" "1" "" "00008" "{PMID:Witkowski L 2014:24658002}" "" "F" "" "" "" "0" "" "" "" "FA3A" "00174270" "" "" "" "1" "" "00008" "{PMID:Witkowski L 2014:24658002}" "" "F" "" "" "" "0" "" "" "" "FA4B" "00174271" "" "" "" "1" "" "00008" "{PMID:Witkowski L 2016:27866340}" "" "F" "" "" "" "0" "" "" "" "III2" "00174272" "" "" "" "1" "" "00008" "{PMID:Witkowski L 2016:26975901}" "" "F" "" "" "" "0" "" "" "" "FA7A" "00174273" "" "" "" "1" "" "00008" "{PMID:Witkowski L 2016:26975901}" "" "F" "" "" "" "0" "" "" "" "FA7B" "00174274" "" "" "" "1" "" "00008" "{PMID:Witkowski L 2014:24658002}" "" "F" "" "" "" "0" "" "" "" "NF1" "00174275" "" "" "" "1" "" "00008" "{PMID:Witkowski L 2014:24658002}" "" "F" "" "" "" "0" "" "" "" "NF4" "00174276" "" "" "" "1" "" "00008" "{PMID:Witkowski L 2014:24658002}" "" "F" "" "" "" "0" "" "" "" "NF4" "00174277" "" "" "" "1" "" "00008" "{PMID:Witkowski L 2014:24658002}" "" "F" "" "" "" "0" "" "" "" "UN3" "00174278" "" "" "" "1" "" "00008" "{PMID:Witkowski L 2014:24658002}" "" "F" "" "" "" "0" "" "" "" "UN7" "00174279" "" "" "" "1" "" "00008" "{PMID:Witkowski L 2016:27866340}" "" "F" "" "" "" "0" "" "" "" "II3" "00174280" "" "" "" "1" "" "00008" "{PMID:Witkowski L 2016:27866340}" "" "F" "" "" "" "0" "" "" "" "III1" "00174281" "" "" "" "1" "" "00008" "{PMID:Witkowski L 2016:27866340}" "" "F" "" "" "" "0" "" "" "" "III3" "00174282" "" "" "" "1" "" "00008" "{PMID:Moes-Sosnowska J 2015:25886974}" "" "F" "" "" "" "0" "" "" "" "" "00174283" "" "" "" "1" "" "00008" "{PMID:Ramos P 2014:24658001}" "" "F" "" "" "" "0" "" "" "" "" "00174284" "" "" "" "1" "" "00008" "{PMID:Ramos P 2014:24658001}" "" "F" "" "" "" "0" "" "" "" "" "00174285" "" "" "" "1" "" "00008" "{PMID:Jelinic P 2014:24658004}" "" "F" "" "" "" "0" "" "" "" "" "00269350" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00292025" "" "" "" "15" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00300247" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00307142" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "-" "Brazil" "" "0" "" "" "" "Patient 06" "00315039" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1128" "00325406" "" "" "" "1" "" "00006" "{PMID:Hong 2020:33333793}" "" "M" "" "Taiwan" "" "0" "" "" "" "Pat19" "00380775" "" "" "" "1" "" "00000" "{PMID:Nair 2018:30293248}" "" "?" "" "Lebanon" "" "0" "" "" "" "?" "00406996" "" "" "" "2" "" "00006" "{PMID:Jiang 2022:33563768}" "analysis 486 colorectal cancer patients" "" "" "China" "" "0" "" "" "" "" "00427654" "" "" "" "1" "" "00006" "{PMID:Rimoldi 2022:36416235}" "2-generation family, affected fetus, unaffected non carrier parents" "" "" "Italy" "<00y00m00d" "0" "" "" "" "Pat2" "00434761" "" "" "" "1" "" "00006" "{PMID:Chen 2022:34906496}" "" "" "" "" "" "0" "" "" "" "Pat103" "00434762" "" "" "" "1" "" "00006" "{PMID:Chen 2022:34906496}" "" "" "" "" "" "0" "" "" "" "Pat104" "00434763" "" "" "" "1" "" "00006" "{PMID:Chen 2022:34906496}" "" "" "" "" "" "0" "" "" "" "Pat105" "00434764" "" "" "" "1" "" "00006" "{PMID:Chen 2022:34906496}" "" "" "" "" "" "0" "" "" "" "Pat106" "00434765" "" "" "" "1" "" "00006" "{PMID:Chen 2022:34906496}" "" "" "" "" "" "0" "" "" "" "Pat107" "00434766" "" "" "" "1" "" "00006" "{PMID:Chen 2022:34906496}" "" "" "" "" "" "0" "" "" "" "Pat108" "00434767" "" "" "" "1" "" "00006" "{PMID:Chen 2022:34906496}" "" "" "" "" "" "0" "" "" "" "Pat109" "00434768" "" "" "" "1" "" "00006" "{PMID:Chen 2022:34906496}" "" "" "" "" "" "0" "" "" "" "Pat110" "00434769" "" "" "" "1" "" "00006" "{PMID:Chen 2022:34906496}" "" "" "" "" "" "0" "" "" "" "Pat111" "00434770" "" "" "" "1" "" "00006" "{PMID:Chen 2022:34906496}" "" "" "" "" "" "0" "" "" "" "Pat112" "00434771" "" "" "" "1" "" "00006" "{PMID:Chen 2022:34906496}" "" "" "" "" "" "0" "" "" "" "Pat113" "00434772" "" "" "" "1" "" "00006" "{PMID:Chen 2022:34906496}" "" "" "" "" "" "0" "" "" "" "Pat114" "00434773" "" "" "" "1" "" "00006" "{PMID:Chen 2022:34906496}" "" "" "" "" "" "0" "" "" "" "Pat115" "00434805" "" "" "" "1" "" "00006" "{PMID:Scott 2022:33461977}, {PMID:Gofin 2022:35796094}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "United States" "" "0" "" "" "" "Pat2" "00434806" "" "" "" "1" "" "00006" "{PMID:Gofin 2022:35796094}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "United States" "" "0" "" "" "" "Pat3" "00436445" "" "" "" "1" "" "04558" "" "" "M" "" "China" "" "0" "" "" "" "" "00440369" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED2119.1" "00441726" "" "" "" "1" "" "01358" "{PMID:van der Sluijs 2022:35579625}" "" "" "" "" "" "0" "" "" "" "Pat36" "00441727" "" "" "" "1" "" "01358" "{PMID:van der Sluijs 2022:35579625}" "" "" "" "" "" "0" "" "" "" "Pat37" "00441728" "" "" "" "1" "" "01358" "{PMID:van der Sluijs 2022:35579625}" "" "" "" "" "" "0" "" "" "" "Pat38" "00448205" "" "" "" "1" "" "00006" "{PMID:Poli 2024:38177409}" "" "M" "" "Chile" "" "0" "" "" "" "Pat71" "00453806" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV960" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 139 "{{individualid}}" "{{diseaseid}}" "00001503" "00001" "00001503" "00002" "00001503" "00003" "00001503" "00004" "00001503" "00005" "00001503" "00006" "00001503" "00007" "00001503" "00008" "00001503" "00009" "00001503" "00010" "00001503" "00011" "00001503" "00012" "00001503" "00156" "00001504" "00156" "00001505" "00156" "00001510" "00156" "00001511" "00156" "00001513" "00156" "00001514" "00156" "00001519" "00156" "00001521" "00156" "00001524" "00156" "00001525" "00156" "00001526" "00156" "00001528" "00156" "00001529" "00156" "00001530" "00156" "00001531" "00156" "00001532" "00156" "00001533" "00156" "00001534" "00156" "00001535" "00156" "00001537" "00156" "00001538" "00156" "00001539" "00156" "00001540" "00156" "00001541" "00156" "00001542" "00156" "00001543" "00156" "00001544" "00157" "00001546" "00156" "00001558" "00156" "00047878" "00000" "00047879" "00755" "00047880" "00755" "00048008" "00639" "00048033" "00156" "00048034" "00156" "00048035" "00156" "00048036" "00156" "00048037" "00156" "00048038" "00156" "00048039" "00156" "00048040" "00156" "00048051" "00156" "00050406" "00198" "00104028" "03381" "00152031" "01017" "00152032" "01017" "00152041" "00928" "00173919" "01017" "00173946" "01017" "00173957" "01017" "00173968" "01017" "00173979" "01017" "00173990" "01017" "00174098" "00168" "00174180" "00000" "00174181" "00000" "00174182" "00000" "00174183" "00000" "00174184" "00000" "00174185" "00000" "00174191" "00000" "00174202" "00000" "00174212" "00000" "00174213" "00000" "00174214" "00000" "00174215" "00000" "00174216" "00000" "00174217" "00000" "00174248" "00198" "00174260" "00198" "00174261" "00198" "00174262" "00198" "00174263" "00198" "00174264" "00198" "00174265" "00198" "00174266" "00198" "00174267" "00198" "00174268" "00198" "00174269" "00198" "00174270" "00198" "00174271" "00198" "00174272" "00198" "00174273" "00198" "00174274" "00198" "00174275" "00198" "00174276" "00198" "00174277" "00198" "00174278" "00198" "00174279" "00198" "00174280" "00198" "00174281" "00198" "00174282" "00198" "00174283" "00198" "00174284" "00198" "00174285" "00198" "00269350" "00198" "00292025" "00198" "00300247" "00198" "00307142" "01544" "00315039" "00198" "00325406" "00198" "00380775" "01018" "00406996" "05489" "00427654" "00156" "00434761" "05611" "00434762" "05611" "00434763" "05611" "00434764" "05611" "00434765" "05611" "00434766" "05611" "00434767" "05611" "00434768" "05611" "00434769" "05611" "00434770" "05611" "00434771" "05611" "00434772" "05611" "00434773" "05611" "00434805" "00198" "00434806" "00198" "00436445" "01018" "00440369" "00198" "00441726" "00156" "00441727" "00156" "00441728" "00156" "00448205" "00198" "00453806" "00152" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00001, 00002, 00003, 00004, 00005, 00006, 00007, 00008, 00009, 00010, 00011, 00012, 00139, 00152, 00156, 00157, 00168, 00198, 00639, 00755, 00928, 01017, 01018, 01544, 03381, 05489, 05611 ## Count = 105 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Hearing/Problems}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Cancer/Sub_type}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000000685" "00156" "00001503" "00074" "Isolated (sporadic)" "40y" "brith a term, weight SD 0.5; inguinal hernia bilateral, 3 hypomelanitic maculae.; no hypotonia; birth feeding problems; eczema (HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); delayed growth (HP:00001510); moderate speech delay (HP:0000750); moderate intellectual disability; normal scalp hair (-HP:0100037); normal eyebrow (-HP:0000534); normal eylashes (-HP:0000499); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); abnormal lacrimal duct (HP:0011481); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), no anteverted nares (-HP:0000463); short philtrum (HP:0000322); wide mouth (HP:0000154); cleft palate (HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); pectus excavatum (HP:0000767); no dislocated elbows (-HP:0003042); brachydactyly (HP:000156); small nails 5th only;; ;; inguinal hernia; ventricular septal defect; no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); inguinal hernia (HP:0000023);" "" "" "" "" "" "" "" "" "" "" "CSS" "" "" "0000000686" "00156" "00001504" "00074" "Isolated (sporadic)" "06y" "brith 34w+1, weight SD -1.8, OFC 27.3 cm; afwijkend ribskelet (vertaling), bifid xyphoid, hypoplastic midface, coarse facial features, low hairlines, horseshoe kidney; seizures onset 5y, low frequency; spherophakia, optic pits, alacrimia, myopia severe -9D (HP:0011003); no hypotonia; birth feeding problems ongoing; multifocal seizures (HP:0031165); abnormal vision (HP:0000504); hearing loss (HP:0000365); severe speech delay (HP:0000750); severe intellectual disability; normal scalp hair (-HP:0100037); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); abnormality nasal bridge (HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); no wide mouth (-HP:0000154); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no pectus excavatum (-HP:0000767); no brachydactyly (-HP:000156); small nails 5th only; markedly delayed bone age (HP:0003799), no prominent interphalangeal joints (-HP:0006237); no cone shaped epiphyses (-HP:0010579), hypoplastic phalanges fingers/toes; pyloric hypertrophy; dextrocardia; kidney abnormality (HP:0000077); corpus callosum agenesis partial (HP:0001388), dysgenesis corpus callosum; severe myopia (HP:0011003);" "" "hearing loss" "" "" "" "" "" "" "" "" "CSS" "" "" "0000000687" "00156" "00001505" "00074" "Isolated (sporadic)" "10y" "brith 37w, weight SD -1; Psoriasis, twin brother; myopia severe -18D (HP:0011003); hypotonia; birth feeding problems; no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); delayed growth (HP:00001510); abnormal vision (HP:0000504); no hearing loss (-HP:0000365); mild-moderate speech delay (HP:0000750); mild-moderate intellectual disability; normal scalp hair (-HP:0100037); thick eyebrow (HP:0000574); normal gross motor skills (-HP:0002194); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); abnormality nasal bridge (HP:0000422), no anteverted nares (-HP:0000463); short philtrum (HP:0000322); wide mouth (HP:0000154); thick lower lip vermillion (HP:0000179), thick upper lip vermillion (HP:0000215); no cleft palate (-HP:0000175); normal ears (-HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); partial 5th distal phalanx; no small nails (-HP:0001792); no delayed bone age (-HP:0003799), no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange, cone shaped epiphyses (HP:0010579), hypoplastic phalanges fingers/toes; no joint laxity (-HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); MRI brain normal, no agenesis corpus callosum (-HP:0001274); severe myopia (HP:0011003);" "" "-" "" "" "" "" "" "" "" "" "CSS" "" "" "0000000692" "00156" "00001510" "00074" "Isolated (sporadic)" "04y06m" "no baby teeth lost by 6y; feeding problems 3y; no seizures (-HP:0001250); moderate speech delay (HP:0000750); mild intellectual disability; difficulties with social cues, loving, happy, some problems with processing; no anteverted nares (-HP:0000463); pectus excavatum (HP:0000767); no small patella (-HP:0003065);;; gastro-esophoegal reflux (HP:0002020); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); delayed permanent teeth (HP:0000696); recurrent infections (HP:0002719); MRI brain normal;" "" "" "" "" "" "" "" "" "" "" "CSS" "" "" "0000000693" "00156" "00001511" "00074" "Isolated (sporadic)" "09y09m" "brith 37w, weight SD -2.5, OFC SD; haemangioma (in sacral area); death from seizures, status epilepticus; myopia severe -10D (HP:0011003); generalized hypotonia; birth feeding problems ongoing; no eczema (-HP:0000964); seizures (HP:0001250); delayed growth (HP:00001510); severe speech delay (HP:0000750); severe intellectual disability; hyperactivity (HP:0000752); sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); cleft palate (HP:0000175); ear abnormality (HP:0000598), ear tags (HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); pectus excavatum (HP:0000767); no dislocated elbows (-HP:0003042); small patella (HP:0003065); brachydactyly (HP:000156); multiple small nails; prominent interphalangeal joints (HP:0006237), prominent distal phalanges;; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); atrial septal defect; no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); corpus callosum agenesis partial (HP:0001388), colpocephaly (HP:0030048), partial agenesis corpus callosum; myopia (HP:0000545);" "" "" "" "" "" "" "" "" "" "" "CSS" "" "" "0000000695" "00156" "00001513" "00074" "Isolated (sporadic)" "22y" "brith 38w, weight SD 1, OFC 35.5 cm; Umbilical hernia delayed puberty, menarche > 18Y, irregular menses; MRI-brain 10y multiple hypointense T1 and hyperintense T2 focal lesions in the peritrigonal regions. Enlarged Virchow-Robin spaces, malformation of left hypocampus); seizures TCG and partial motor; seizures onset 2y; hypotonia; no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); seizures (HP:0001250); delayed growth (HP:00001510); no hearing loss (-HP:0000365); moderate speech delay (HP:0000750); moderate-severe intellectual disability; agitatiom, fobias, coprolalia responds to Risperidone; normal scalp hair (-HP:0100037); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); abnormality nasal bridge (HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); thick lower lip vermillion (HP:0000179); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); no brachydactyly (-HP:000156); no absent 5th distal phalanx; small nails 5th only; markedly delayed bone age (HP:0003799), prominent interphalangeal joints (HP:0006237), prominent distal phalanges; no hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); no agenesis corpus callosum (-HP:0001274); myopia (HP:0000545);" "" "-" "" "" "" "" "" "" "" "" "CSS" "" "" "0000000696" "00156" "00001514" "00074" "Isolated (sporadic)" "20y06m" "brith 40w, weight SD 0.5, OFC SD 0; camptodactyly 5th fingers & 2nd-3rd toes, fan-shaped toes arrangement, sandal gap, short 5th metatarsal, - ,fan-shaped toes arrangement, + (very wide), +; social unripeness; 20y-Ca colli uteri (clear cell adenocarcionoma); generalized hypotonia; birth feeding problems 3y; no eczema (-HP:0000964); no seizures (-HP:0001250); no growth abnormality (-HP:0001507); no hearing loss (-HP:0000365); mild speech delay (HP:0000750); borderline intellectual disability; hyperactivity (HP:0000752); sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); normal gross motor skills (-HP:0002194); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), no anteverted nares (-HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); wrinkling skin (HP:0007392); scoliosis (HP:0002650); pectus excavatum (HP:0000767); no dislocated elbows (-HP:0003042); no brachydactyly (-HP:000156); multiple small nails; prominent interphalangeal joints (HP:0006237), prominent distal phalanges; hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); corpus callosum agenesis partial (HP:0001388), colpocephaly (HP:0030048), partial agenesis corpus callosum;" "" "normal" "" "" "" "" "" "" "" "" "CSS" "" "" "0000000701" "00156" "00001519" "00074" "Isolated (sporadic)" "08y09m" "brith 39w+5, weight SD -0.2; Pierre Robin sequence,Microphthalmia,Hypertelorism,Bitemporal narrowing,Asymmetric facies,Short 4th/5th metacarpals hand,Dense aspect metaphysis radius, ulna and femur,Narrow auditory canals,Fetal finger pads,Knee pain,Asymmetric facies,High pain tolerance; tilted papils with surrounding hyperpigmentation, myopia -2.5D (HP:0000545); generalized hypotonia; birth feeding problems 2.5y; no eczema (-HP:0000964); no seizures (-HP:0001250); delayed growth (HP:00001510); severe speech delay (HP:0000750); mild intellectual disability; anxiety (HP:0000739); normal scalp hair (-HP:0100037); normal eyebrow (-HP:0000534); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); flat (depressed/low) nasal bridge (HP:0005280), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); cleft palate (HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); brachydactyly (HP:000156); small nails 5th only; no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange, no cone shaped epiphyses (-HP:0010579), no hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); delayed permanent teeth (HP:0000696); recurrent infections (HP:0002719); no agenesis corpus callosum (-HP:0001274); myopia (HP:0000545); strabismus (HP:0000486)" "" "" "" "" "" "" "" "" "" "" "CSS" "" "" "0000000703" "00156" "00001521" "00074" "Isolated (sporadic)" "11y" "brith 40w, weight SD -1.9; Cryptorchidism,Hernia umbilicus; MRI-brain delayed myelinisation; no hypotonia; no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); no growth abnormality (-HP:0001507); normal vision (-HP:0000504); no hearing loss (-HP:0000365); severe speech delay (HP:0000750); severe intellectual disability; anger outbursts; sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194); normal lacrimal duct (-HP:0011481); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); wide philtrum (HP:0000289); wide mouth (HP:0000154); thick lower lip vermillion (HP:0000179); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); no hypertrichosis (-HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); no brachydactyly (-HP:000156); absent 5th distal phalanx; multiple small nails (incl. 5th);; ; hypoplastic phalanges fingers/toes; no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); no agenesis corpus callosum (-HP:0001274);" "" "-" "" "" "" "" "" "" "" "" "CSS" "" "" "0000000706" "00156" "00001524" "00074" "Isolated (sporadic)" "11y" "brith 40w, weight SD -0.8; MRI-brain Mild delayed myelinisation; generalized hypotonia; birth feeding problems; no eczema (-HP:0000964); no vascular skin abnormality (-HP:0011276); no seizures (-HP:0001250); delayed growth (HP:00001510); no hearing loss (-HP:0000365); moderate speech delay (HP:0000750); moderate intellectual disability; autism (HP:0000717); sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); no cleft palate (-HP:0000175); normal ears (-HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); no brachydactyly (-HP:000156); small nails 5th only; no delayed bone age (-HP:0003799), no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange, no cone shaped epiphyses (-HP:0010579), hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); constipation; mild mitral valve insufficiency; no kidney abnormality (-HP:0000077); delayed permanent teeth (HP:0000696); recurrent infections (HP:0002719); no agenesis corpus callosum (-HP:0001274);" "" "normal" "" "" "" "" "" "" "" "" "CSS" "" "" "0000000707" "00156" "00001525" "00074" "Isolated (sporadic)" "05y06m" "hyperpigmented macule left shoulder, tight hip flexors with mild spasticity. Truncal hypotonia; seizures onset 2y, 2 per month; hypotonia; no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); focal seizures (HP:0007359); no growth abnormality (-HP:0001507); no hearing loss (-HP:0000365); apneas secondary to tonsil and adnoid hypertrophy; moderate speech delay (HP:0000750); moderate intellectual disability; normal behaviour (-HP:0000708); sparse scalp hair (HP:0002209); normal eyebrow (-HP:0000534); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), anteverted nares (HP:0000463); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); thick lower lip vermillion (HP:0000179); no cleft palate (-HP:0000175); normal ears (-HP:0000598), no ear tags (-HP:0000384); no hypertrichosis (-HP:0000998); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); no brachydactyly (-HP:000156); no absent 5th distal phalanx; no small nails (-HP:0001792); no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange, no cone shaped epiphyses (-HP:0010579); joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); MRI brain normal, no agenesis corpus callosum (-HP:0001274);" "" "-" "" "" "" "" "" "" "" "" "CSS" "" "" "0000000708" "00156" "00001526" "00074" "Isolated (sporadic)" "10y" "brith 40w, weight SD 0; no seizures (-HP:0001250); severe speech delay (HP:0000750); severe intellectual disability; friendly personality; anteverted nares (HP:0000463); small nails (HP:0001792); markedly delayed bone age (HP:0003799);; ; joint laxity (HP:0001388); congenital hirschprung disease; no cardiac abnormality (-HP:0001627); corpus callosum agenesis (HP:0001274);" "" "" "" "" "" "" "" "" "" "" "CSS" "" "" "0000000710" "00156" "00001528" "00074" "Isolated (sporadic)" "03y" "brith 40w, weight SD -3; severe failure to thrive, 18 teeth at 3y; no hypotonia; no seizures (-HP:0001250); delayed growth (HP:00001510); no hearing loss (-HP:0000365); severe speech delay (HP:0000750); severe intellectual disability; normal behaviour (-HP:0000708); sparse scalp hair (HP:0002209); normal eyebrow (-HP:0000534); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); no hypertrichosis (-HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); brachydactyly (HP:000156); multiple small nails; markedly delayed bone age (HP:0003799), no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange, no cone shaped epiphyses (-HP:0010579), hypoplastic phalanges fingers/toes; no joint laxity (-HP:0001388); no intestinal anomalies (-HP:0002242); AVSD, double outlet right ventricle; no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); MRI brain normal, no agenesis corpus callosum (-HP:0001274);" "" "normal" "" "" "" "" "" "" "" "" "CSS" "" "" "0000000711" "00156" "00001529" "00074" "Isolated (sporadic)" "10y11m" "brith 38w, weight SD -3, microcephaly; neonatal breathing diffiuclites, gastroesophageal reflux, fundoplication, chronic lung disease and bronchiectasis and lots of respiratory secretions, with secondary pulmonary hypertension, Oxygen dependent,Cryporchidism,Pubic hair since age 6y,Nasal obstruction, bilateral coax vara, no crying, dry fragile skin in infancy, asthma/hayfever, gynaecomastia, brachycephaly, thick guns, small down-slanting palpebral fissures, small chin, prominent fetal finger pads when younger, optic nerve hypoplasia; seizures onset 10y; anisometropic amblyopia, nr optic nerve hypoplasia (too unwell to be investigated); generalized hypotonia; birth feeding problems ongoing; no eczema (-HP:0000964); no vascular skin abnormality (-HP:0011276); seizures (HP:0001250); delayed growth (HP:00001510); no hearing loss (-HP:0000365); severe speech delay (HP:0000750); severe intellectual disability; sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); flat (depressed/low) nasal bridge (HP:0005280), anteverted nares (HP:0000463), thick alae (HP:0009928); wide philtrum (HP:0000289); wide mouth (HP:0000154); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); scoliosis (HP:0002650); no pectus excavatum (-HP:0000767); no brachydactyly (-HP:000156); multiple small nails; no prominent interphalangeal joints (-HP:0006237) , prominent distal phalanges; hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); pyloric stenosis and inguinal hernia; dextrocardia; no kidney abnormality (-HP:0000077); delayed permanent teeth (HP:0000696); recurrent infections (HP:0002719); corpus callosum hypoplasia (HP:0002079), partial agenesis corpus callosum; pyloric stenosis (HP:0002021); inguinal hernia (HP:0000023); myopia (HP:0000545);" "" "normal" "" "" "" "" "" "" "" "" "CSS" "" "" "0000000712" "00156" "00001530" "00074" "Isolated (sporadic)" "09y01m" "brith 37w, weight SD -1.2; high pain threshold, pulls out hair; laryngomalacia, 3-4 café-au-lait patches, sacral dimple, right single plamer crease, tongue tie, cold hands and feet, optic nerve hypoplasia; seizures onset 3y; optic nerve hypoplasia; generalized hypotonia; birth feeding problems ongoing; eczema (HP:0000964); no vascular skin abnormality (-HP:0011276); generalized tonic-clonic seizures (HP:0002069); delayed growth (HP:00001510); no hearing loss (-HP:0000365), sensitive hearing; severe speech delay (HP:0000750); severe intellectual disability; autism (HP:0000717); normal scalp hair (-HP:0100037); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); flat (depressed/low) nasal bridge (HP:0005280), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); scoliosis (HP:0002650); pectus excavatum (HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); brachydactyly (HP:000156); multiple small nails; no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange, cone shaped epiphyses (HP:0010579), hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); corpus callosum agenesis (HP:0001274), colpocephaly (HP:0030048), Dandy-Walker malformation (HP:0001305), agenesis corpus callosum (HP:0001274); umbilical hernia (HP:0001537); astigmatism (HP:0000483);" "" "normal" "" "" "" "" "" "" "" "" "CSS" "" "" "0000000713" "00156" "00001531" "00074" "Isolated (sporadic)" "24y" "brith 41w, weight SD -2; Central Obestity and thin limbs,Diabetes mellitus and Hypertension,Died suddenly, renal absesses,Cryptorchidism,Pes planus,Long columella,Laryngomalacia,Incomplete puberty,Constipation,High pain threshold,Gynaecomatsia,Prognathia,Lots moles; hypotonia; birth feeding problems 2y; no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); delayed growth (HP:00001510); abnormal vision (HP:0000504); bilateral hearing loss (HP:0000365); severe speech delay (HP:0000750); severe intellectual disability; likes routine, poor eye contact, poor sleep; sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); normal gross motor skills (-HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), no anteverted nares (-HP:0000463), thick alae (HP:0009928); short philtrum (HP:0000322), wide philtrum (HP:0000289); wide mouth (HP:0000154); thick lower lip vermillion (HP:0000179), thick upper lip vermillion (HP:0000215); no cleft palate (-HP:0000175); normal ears (-HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); scoliosis (HP:0002650); no pectus excavatum (-HP:0000767); no brachydactyly (-HP:000156); small nails 5th only; prominent interphalangeal joints (HP:0006237), prominent distal phalanges;; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); delayed permanent teeth (HP:0000696); recurrent infections (HP:0002719); MRI brain normal, no agenesis corpus callosum (-HP:0001274); strabismus (HP:0000486)" "" "bilateral" "" "" "" "" "" "" "" "" "CSS" "" "" "0000000714" "00156" "00001532" "00074" "Isolated (sporadic)" "06y06m" "brith 40w+5, weight SD -1; hypopigmented patch, triangular face, pointed chin, mild knee contractures, broad thumbs/halluces, squared off fingers/toes, tight Achilles, excitable, short concentration; normal vision; no hypotonia; birth feeding problems ongoing; no eczema (-HP:0000964); no vascular skin abnormality (-HP:0011276); febrile seizures (HP:0002373); delayed growth (HP:00001510); no hearing loss (-HP:0000365); glue ear; severe speech delay (HP:0000750); severe intellectual disability; hyperactivity (HP:0000752); sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); normal gross motor skills (-HP:0002194), delayed fine motor skills (HP:0010862); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); flat (depressed/low) nasal bridge (HP:0005280), no anteverted nares (-HP:0000463), thick alae (HP:0009928); wide philtrum (HP:0000289); wide mouth (HP:0000154); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no brachydactyly (-HP:000156); no small nails (-HP:0001792); accelerated bone age (HP:0002805), no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange, no cone shaped epiphyses (-HP:0010579), no hypoplastic phalanges fingers/toes; no joint laxity (-HP:0001388); no intestinal anomalies (-HP:0002242); atrial septal defect; no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); MRI brain normal, no agenesis corpus callosum (-HP:0001274);" "" "normal" "" "" "" "" "" "" "" "" "CSS" "" "" "0000000715" "00156" "00001533" "00074" "Isolated (sporadic)" "09y" "brith 41w, weight SD 1; mid face hypoplasia, hypertelorism, dental decay, mild lumbar lordosis, Shoret halluces, GOR, constipation; episodes of eye rolling; birth feeding problems; glue ear; mild speech delay (HP:0000750); mild intellectual disability; lashes out, poor sleep; anteverted nares (HP:0000463); long philtrum (HP:0000343); no pectus excavatum (-HP:0000767); no small patella (-HP:0003065); brachydactyly (HP:000156); markedly delayed bone age (HP:0003799); no cone shaped epiphyses (-HP:0010579), no hypoplastic phalanges fingers/toes; no intestinal anomalies (-HP:0002242); recurrent infections (HP:0002719); MRI brain normal;" "" "" "" "" "" "" "" "" "" "" "CSS" "" "" "0000000716" "00156" "00001534" "00074" "Isolated (sporadic)" "12y01m" "brith 36w+1, weight SD -1; Ataxia and involuntary movement,Joint contractures at birth,Laryngomalacia,Tongue tie,Constipation,No crying when hurt,Early breast development,2 blind ending sacral pits,Pes planvalgus,Down slanting palpebral fissures,Stiff ankles,Long straight nose,Tuberculosis age 1.5y; hypotonia; birth feeding problems; eczema (HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); delayed growth (HP:00001510); normal vision (-HP:0000504); no hearing loss (-HP:0000365); moderate speech delay (HP:0000750); moderate intellectual disability; picks nails, some obsessive behaviours; normal scalp hair (-HP:0100037); thick eyebrow (HP:0000574); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); no cleft palate (-HP:0000175); normal ears (-HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); scoliosis (HP:0002650); no pectus excavatum (-HP:0000767); no brachydactyly (-HP:000156); hypoplastic 5th distal phalanx; small nails 5th only; no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange; hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); inguinal hernia; no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); delayed permanent teeth (HP:0000696); recurrent infections (HP:0002719); corpus callosum abnormality (HP:001273), partial agenesis corpus callosum; inguinal hernia (HP:0000023);" "" "-" "" "" "" "" "" "" "" "" "CSS" "" "" "0000000717" "00156" "00001535" "00074" "Isolated (sporadic)" "13y04m" "brith 39w, weight SD -1.3, OFC 49 cm; tantrums, long hands and feet,Sacral dimple,Stridor in first week,Extra front tooth,Enlarged labia,Gluten sensitivity,Lactose intolerance,Sllep difficulties,Plaigocephaly,Brachycephaly,Bulbous nasal tip,Long nose,Pointed chin; sensitive to light; generalized hypotonia; birth feeding problems; eczema (HP:0000964); no vascular skin abnormality (-HP:0011276); no seizures (-HP:0001250); delayed growth (HP:00001510); no hearing loss (-HP:0000365); moderate speech delay (HP:0000750); moderate-severe intellectual disability; autism (HP:0000717); sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), no anteverted nares (-HP:0000463), thick alae (HP:0009928); normal philtrum (-HP:0000288); wide mouth (HP:0000154); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); scoliosis (HP:0002650); pectus excavatum (HP:0000767); no brachydactyly (-HP:000156); no small nails (-HP:0001792); markedly delayed bone age (HP:0003799), prominent interphalangeal joints (HP:0006237), prominent distal phalanges;; joint laxity (HP:0001388); umbilical hernia; no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); MRI brain normal;" "" "normal" "" "" "" "" "" "" "" "" "CSS" "" "" "0000000719" "00156" "00001537" "00074" "Isolated (sporadic)" "17y" "brith 40w, weight SD 2.3; short neck, small teeth with gaps, hypopigmented patch, small hands and feet, long fingers, minor leg length discrepancy, no axilliary hair, constipation, high pain threshold; delayed visual maturation; generalized hypotonia; no eczema (-HP:0000964); no vascular skin abnormality (-HP:0011276); no seizures (-HP:0001250); no growth abnormality (-HP:0001507); no hearing loss (-HP:0000365); glue ear, sensitive to sounds; severe speech delay (HP:0000750); severe intellectual disability; anxiety (HP:0000739), autism (HP:0000717); normal scalp hair (-HP:0100037); normal eyebrow (-HP:0000534); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); no ptosis (-HP:0000520); choanal stenosis (HP:0000452); flat (depressed/low) nasal bridge (HP:0005280), no anteverted nares (-HP:0000463), thick alae (HP:0009928); normal philtrum (-HP:0000288); wide mouth (HP:0000154); no cleft palate (-HP:0000175); normal ears (-HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); scoliosis (HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); no brachydactyly (-HP:000156); no small nails (-HP:0001792); markedly delayed bone age (HP:0003799), no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange, no cone shaped epiphyses (-HP:0010579), no hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); recurrent infections (HP:0002719); MRI brain normal, no agenesis corpus callosum (-HP:0001274); umbilical hernia (HP:0001537); strabismus (HP:0000486), nystagmus (HP:0000639)" "" "normal" "" "" "" "" "" "" "" "" "CSS" "" "" "0000000720" "00156" "00001538" "00074" "Isolated (sporadic)" "04y11m" "brith 39w, weight SD -1.3; Mirror movements,Ridged palate,Down-slanting palpebral fissures,Plaigocephaly,Gaps in lower teeth,Sloping shoulders,Prominent sternum,Cryptorchidism,No crying,Gastroesophageal reflux,Laryngomalacia,Lactose intolerance,Poor facial expression,Pes planus,Prominent heels,Long halluces; hypotonia; birth feeding problems ongoing; no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); normal vision (-HP:0000504); no hearing loss (-HP:0000365); moderate speech delay (HP:0000750); severe intellectual disability; poor danger awareness, short attention span; normal scalp hair (-HP:0100037); normal eyebrow (-HP:0000534); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); abnormality nasal bridge (HP:0000422), no anteverted nares (-HP:0000463); long philtrum (HP:0000343); wide mouth (HP:0000154); thick lower lip vermillion (HP:0000179); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no brachydactyly (-HP:000156); small nails 5th only; no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange;; joint laxity (HP:0001388); pyloric stenosis; no cardiac abnormality (-HP:0001627); mild calyceal fullness kidney; recurrent infections (HP:0002719); corpus callosum agenesis partial (HP:0001388), Dandy-Walker malformation (HP:0001305), partial agenesis corpus callosum; pyloric stenosis (HP:0002021);" "" "-" "" "" "" "" "" "" "" "" "CSS" "" "" "0000000721" "00156" "00001539" "00074" "Isolated (sporadic)" "01y" "brith 38w, weight SD -1; Slightly coarse. Puffy under eyes. Mother has optic disc coloboma and nystagmus (but no DD,LD or other health problems )so eye signs likely unrelated, 1st tooth at 1y; MRI-brain Normal (mega cisterna magna); Right optic disc coloboma and nystagmus(similar to mother); birth feeding problems; no seizures (-HP:0001250); undescended testes; severe speech delay (HP:0000750); moderate-severe intellectual disability; normal behaviour (-HP:0000708); anteverted nares (HP:0000463); normal philtrum (-HP:0000288); no pectus excavatum (-HP:0000767); brachydactyly (HP:000156);;; no intestinal anomalies (-HP:0002242); atrial septal defect; no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); no agenesis corpus callosum (-HP:0001274); coloboma (HP:0000589);" "" "" "" "" "" "" "" "" "" "" "CSS" "" "" "0000000722" "00156" "00001540" "00074" "Isolated (sporadic)" "01y02m" "brith 40w, weight SD -3, OFC 35 cm; supernumerary thoracic vertebra (T13), cleft T5, bifid V rib; MRI-brain Mega cisterna magna, Absent rostrum corpus callosum and septum pellucidum, Hypoplastic posterior part corpus callosum; generalized hypotonia; birth abdominal feeding problems ongoing; no eczema (-HP:0000964); no vascular skin abnormality (-HP:0011276); no seizures (-HP:0001250); no growth abnormality (-HP:0001507); no hearing loss (-HP:0000365); moderate-severe speech delayed (HP:0000750); moderate-severe intellectual disability; normal scalp hair (-HP:0100037); normal eyebrow (-HP:0000534); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); abnormal lacrimal duct (HP:0011481); ptosis (HP:0000520); choanal stenosis (HP:0000452); flat (depressed/low) nasal bridge (HP:0005280), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); no wide mouth (-HP:0000154); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); brachydactyly (HP:000156); multiple small nails; no delayed bone age (-HP:0003799), no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange, no cone shaped epiphyses (-HP:0010579), hypoplastic phalanges fingers/toes; no joint laxity (-HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); partial agenesis corpus callosum; optic disk (nerve) coloboma (HP:0000588);" "" "normal" "" "" "" "" "" "" "" "" "CSS" "" "" "0000000723" "00156" "00001541" "00074" "Isolated (sporadic)" "15y" "brith 42w, weight SD -3; Tracheomalacia in infancy; birth feeding problems; no seizures (-HP:0001250); mild speech delay (HP:0000750); moderate intellectual disability; normal behaviour (-HP:0000708); anteverted nares (HP:0000463); long philtrum (HP:0000343), wide philtrum (HP:0000289); no pectus excavatum (-HP:0000767); no small patella (-HP:0003065); brachydactyly (HP:000156); no delayed bone age (-HP:0003799); no cone shaped epiphyses (-HP:0010579), no hypoplastic phalanges fingers/toes; no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); no agenesis corpus callosum (-HP:0001274); myopia (HP:0000545);" "" "" "" "" "" "" "" "" "" "" "CSS" "" "" "0000000724" "00156" "00001542" "00074" "Isolated (sporadic)" "04y" "brith 42w, weight SD -1.2; myopia -4.5D (HP:0000545); hypotonia; birth feeding problems; no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); delayed growth (HP:00001510); abnormal vision (HP:0000504); no hearing loss (-HP:0000365); mild-moderate speech delay (HP:0000750); moderate intellectual disability; normal behaviour (-HP:0000708); sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); abnormality nasal bridge (HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); thick lower lip vermillion (HP:0000179); no cleft palate (-HP:0000175); normal ears (-HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); brachydactyly (HP:000156); no absent 5th distal phalanx; small nails 5th only; no delayed bone age (-HP:0003799), no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange, cone shaped epiphyses (HP:0010579), no hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); no agenesis corpus callosum (-HP:0001274); myopia (HP:0000545);" "" "-" "" "" "" "" "" "" "" "" "CSS" "" "" "0000000725" "00156" "00001543" "00074" "Isolated (sporadic)" "13y" "brith 42w; delayed puberty; generalized hypotonia; eczema (HP:0000964); no vascular skin abnormality (-HP:0011276); no seizures (-HP:0001250); delayed growth (HP:00001510); no hearing loss (-HP:0000365); severe speech delay (HP:0000750); moderate-severe intellectual disability; autism (HP:0000717); sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); abnormal lacrimal duct (HP:0011481); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); flat (depressed/low) nasal bridge (HP:0005280), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); no wide mouth (-HP:0000154); no cleft palate (-HP:0000175); normal ears (-HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); brachydactyly (HP:000156); no small nails (-HP:0001792); no delayed bone age (-HP:0003799), no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange, no cone shaped epiphyses (-HP:0010579), no hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); delayed permanent teeth (HP:0000696); no recurrent infections (-HP:0002719); partial agenesis corpus callosum; myopia (HP:0000545);" "" "normal" "" "" "" "" "" "" "" "" "CSS" "" "" "0000000726" "00156" "00001544" "00074" "Isolated (sporadic)" "10y" "brith post term, weight SD 1; hair microscopy normal,Rarely sweats,Never had nails cut.,Reduced subcutaneous fat,Fetal pads,Long toes with bulbous tips,Coarse face; MRI-brain Increased perivascular spaces; seizures, initially just loss of consciousness, 2y6m 1st generalised tonic-clonic seizure; seizures onset 2y, 1 per 2m; no hypotonia; no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); seizures (HP:0001250), generalized tonic-clonic seizures (HP:0002069); normal vision (-HP:0000504); no hearing loss (-HP:0000365); severe speech delay (HP:0000750); moderate-severe intellectual disability; active, tries to escape, erratic, no sense of danger, 8y-eating excessively, sleeps little, 10y-obsessive, does not like clothes; sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343); wide mouth (HP:0000154); thick lower lip vermillion (HP:0000179); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no brachydactyly (-HP:000156); no absent 5th distal phalanx; no small nails (-HP:0001792); prominent interphalangeal joints (HP:0006237), no prominent distal phalange, no cone shaped epiphyses (-HP:0010579), no hypoplastic phalanges fingers/toes; no joint laxity (-HP:0001388); diarrhoea,umbilical hernia; no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); no agenesis corpus callosum (-HP:0001274);" "" "-" "" "" "" "" "" "" "" "" "CSS" "" "" "0000000728" "00156" "00001546" "00074" "Isolated (sporadic)" "13y" "brith 38w, weight SD -0.3, OFC 34 cm; myopia severe -11D (HP:0011003); hypotonia; birth feeding problems brief; no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); no growth abnormality (-HP:0001507); abnormal vision (HP:0000504); no hearing loss (-HP:0000365); mild speech delay (HP:0000750); moderate intellectual disability; hypersociablility; normal scalp hair (-HP:0100037); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), normal fine motor skills (-HP:0010862); abnormal lacrimal duct (HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), no anteverted nares (-HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); thick lower lip vermillion (HP:0000179); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); small patella (HP:0003065); hypoplastic 5th distal phalanx; small nails 5th only;; ; hypoplastic phalanges fingers/toes; partial agenesis corpus callosum; severe myopia (HP:0011003);" "" "-" "" "" "" "" "" "" "" "" "CSS" "" "" "0000000740" "00156" "00001558" "00074" "Isolated (sporadic)" "04y" "brith 41w, weight SD 0.2, OFC 36 cm; high narrow palate, two café au lait spots (2x1 cm) on trunk; generalized hypotonia; birth feeding problems; no eczema (-HP:0000964); no vascular skin abnormality (-HP:0011276); no seizures (-HP:0001250); no growth abnormality (-HP:0001507); no hearing loss (-HP:0000365); severe speech delay (HP:0000750); severe intellectual disability; attention span short;hyperactivity; sparse scalp hair (HP:0002209); normal eyebrow (-HP:0000534); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), no anteverted nares (-HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343); no wide mouth (-HP:0000154); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); pectus excavatum (HP:0000767); brachydactyly (HP:000156); multiple small nails; prominent interphalangeal joints (HP:0006237), no prominent distal phalange;; no intestinal anomalies (-HP:0002242); ventricular septal defect; no kidney abnormality (-HP:0000077);" "" "normal" "" "" "" "" "" "" "" "" "CSS" "" "" "0000037018" "00198" "00050406" "00006" "Unknown" "" "congenital sensorineural hearing impairment, seizures, cerebral atrophy, cortical visual impairment, intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043118" "00156" "00048033" "01358" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "CSS" "" "" "0000043119" "00156" "00048034" "01358" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "CSS" "" "" "0000043120" "00156" "00048035" "01358" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "CSS" "" "" "0000043121" "00156" "00048036" "01358" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "CSS" "" "" "0000043122" "00156" "00048037" "01358" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "CSS" "" "" "0000043123" "00156" "00048038" "01358" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "CSS" "" "" "0000043124" "00156" "00048039" "01358" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "CSS" "" "" "0000043125" "00156" "00048040" "01358" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "CSS" "" "" "0000043127" "00156" "00048051" "01358" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "CSS" "" "" "0000081962" "03381" "00104028" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000124378" "01017" "00152031" "00006" "-" "" "atypical teratoid, rhabdoid tumor" "" "" "" "" "" "" "" "" "" "" "RTPS-2" "rhabdoid tumor predisposition syndrome" "" "0000124379" "01017" "00152032" "00006" "-" "" "(rhabdoid tumor of kidney" "" "" "" "" "" "" "" "" "" "" "RTPS-2" "rhabdoid tumor predisposition syndrome" "" "0000138908" "00198" "00174098" "00008" "Familial" "" "Malignant rhabdoid tumor of the soft tissue (MRT) / ovary" "27y" "" "" "" "" "" "" "" "" "" "" "" "" "0000138936" "00198" "00174248" "00008" "Familial" "" "RTK: kidney" "7m" "" "" "" "" "" "" "" "" "" "" "" "" "0000138947" "00198" "00174260" "00008" "Familial" "" "Small cell carcinoma of the ovary, hypercalcaemic type (SCCOHT), right ovary" "35y" "" "" "" "" "" "" "" "" "" "" "" "" "0000138948" "00198" "00174261" "00008" "Familial" "" "Small cell carcinoma of the ovary, hypercalcaemic type (SCCOHT)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138949" "00198" "00174262" "00008" "Familial" "" "Small cell carcinoma of the ovary, hypercalcaemic type (SCCOHT)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138950" "00198" "00174263" "00008" "Familial" "" "Small cell carcinoma of the ovary, hypercalcaemic type (SCCOHT)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138951" "00198" "00174264" "00008" "Familial" "" "Small cell carcinoma of the ovary, hypercalcaemic type (SCCOHT)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138952" "00198" "00174265" "00008" "Familial" "" "Small cell carcinoma of the ovary, hypercalcaemic type (SCCOHT)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138953" "00198" "00174266" "00008" "Familial" "" "Small cell carcinoma of the ovary, hypercalcaemic type (SCCOHT)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138954" "00198" "00174267" "00008" "Familial" "" "Small cell carcinoma of the ovary, hypercalcaemic type (SCCOHT)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138955" "00198" "00174268" "00008" "Familial" "" "Small cell carcinoma of the ovary, hypercalcaemic type (SCCOHT)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138956" "00198" "00174269" "00008" "Familial" "" "Small cell carcinoma of the ovary, hypercalcaemic type (SCCOHT)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138957" "00198" "00174270" "00008" "Familial" "" "Small cell carcinoma of the ovary, hypercalcaemic type (SCCOHT)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138958" "00198" "00174271" "00008" "Familial" "" "Small cell carcinoma of the ovary, hypercalcaemic type (SCCOHT), right ovary" "23y" "" "" "" "" "" "" "" "" "" "" "" "" "0000138959" "00198" "00174272" "00008" "Familial" "" "Small cell carcinoma of the ovary, hypercalcaemic type (SCCOHT)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138960" "00198" "00174273" "00008" "Familial" "" "Small cell carcinoma of the ovary, hypercalcaemic type (SCCOHT)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138961" "00198" "00174274" "00008" "Familial" "" "Small cell carcinoma of the ovary, hypercalcaemic type (SCCOHT)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138962" "00198" "00174275" "00008" "Familial" "" "Small cell carcinoma of the ovary, hypercalcaemic type (SCCOHT)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138963" "00198" "00174276" "00008" "Familial" "" "Small cell carcinoma of the ovary, hypercalcaemic type (SCCOHT)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138964" "00198" "00174277" "00008" "Familial" "" "Small cell carcinoma of the ovary, hypercalcaemic type (SCCOHT)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138965" "00198" "00174278" "00008" "Familial" "" "Small cell carcinoma of the ovary, hypercalcaemic type (SCCOHT)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138966" "00198" "00174279" "00008" "Familial" "" "Small cell carcinoma of the ovary, hypercalcaemic type (SCCOHT), right ovary" "36y" "" "" "" "" "" "" "" "" "" "" "" "" "0000138967" "00198" "00174280" "00008" "Familial" "" "Small cell carcinoma of the ovary, hypercalcaemic type (SCCOHT), right ovary" "23y" "" "" "" "" "" "" "" "" "" "" "" "" "0000138968" "00198" "00174281" "00008" "Familial" "" "Small cell carcinoma of the ovary, hypercalcaemic type (SCCOHT), left ovary" "30y" "" "" "" "" "" "" "" "" "" "" "" "" "0000138969" "00198" "00174282" "00008" "Familial" "" "Small cell carcinoma of the ovary, hypercalcaemic type (SCCOHT), left ovary" "21y" "" "" "" "" "" "" "" "" "" "" "" "" "0000138970" "00198" "00174283" "00008" "Familial" "" "Small cell carcinoma of the ovary, hypercalcaemic type (SCCOHT)" "9y" "" "" "" "" "" "" "" "" "" "" "" "" "0000138971" "00198" "00174284" "00008" "Familial" "" "Small cell carcinoma of the ovary, hypercalcaemic type (SCCOHT)" "10y" "" "" "" "" "" "" "" "" "" "" "" "" "0000138972" "00198" "00174285" "00008" "Familial" "" "Small cell carcinoma of the ovary, hypercalcaemic type (SCCOHT)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139078" "01017" "00173919" "00008" "Familial" "" "it" "17m" "" "" "" "" "" "" "" "" "" "" "" "" "0000139079" "01017" "00173946" "00008" "Familial" "" "st" "3m" "" "" "" "" "" "" "" "" "" "" "" "" "0000139080" "01017" "00173957" "00008" "Familial" "" "" "1m" "" "" "" "" "" "" "" "" "" "" "" "" "0000139081" "01017" "00173968" "00008" "Familial" "" "it" "8m" "" "" "" "" "" "" "" "" "" "" "" "" "0000139082" "01017" "00173979" "00008" "Familial" "" "it" "8m" "" "" "" "" "" "" "" "" "" "" "" "" "0000139083" "01017" "00173990" "00008" "Familial" "" "st" "1m" "" "" "" "" "" "" "" "" "" "" "" "" "0000207182" "00198" "00269350" "01164" "Unknown" "" "Global developmental delay (HP:0001263); Abnormality of the face (HP:0000271); Microcephaly (HP:0000252)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000227549" "00198" "00300247" "01164" "Unknown" "" "Abnormality of the eye (HP:0000478); Hypermetropia (HP:0000540); High-frequency sensorineural hearing impairment (HP:0001757); Global developmental delay (HP:0001263); Syncope (HP:0001279); Clinodactyly of the 5th finger (HP:0004209)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000232946" "01544" "00307142" "03753" "-" "" "Unilateral" "" "" "00y35m" "HP:0000555" "" "" "" "" "" "" "" "" "" "0000238791" "00198" "00315039" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Kabuki syndrome" "chromatinopathy" "" "0000243893" "00198" "00325406" "00006" "Isolated (sporadic)" "" "2m-onset seizures; general tonic seizures; severe global developmental delay" "" "" "3m" "" "" "" "" "" "" "" "" "seizures, encephalopathy" "" "0000274628" "01018" "00380775" "00000" "Familial" "" "DD; coarse face; encephalocele; omphalocele; bifid uvula; sub mucous cleft palate; ataxia; muscular hypotonia (Multiple system disease)" "" "" "" "" "" "" "" "" "" "" "Coffin-Siris type 4" "" "" "0000281549" "00639" "00152033" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "lung cancer" "" "0000318669" "00156" "00427654" "00006" "Isolated (sporadic)" "<00y00m00d" "see paper; ..., fetal case; autopsy confirmed corpus callosum hypoplasia, left congenital diaphragmatic hernia with displacement ipsilateral hemithorax part of liver and intestine, stomach, spleen and pancreas; relative macrocephaly, low-set ears, depressed nasal bridge, camptodactyly, growth retardation" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000325010" "05611" "00434761" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "CSS4" "neurodevelopmental dealy" "" "0000325011" "05611" "00434762" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "CSS4" "neurodevelopmental dealy" "" "0000325012" "05611" "00434763" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "CSS4" "neurodevelopmental dealy" "" "0000325013" "05611" "00434764" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "CSS4" "neurodevelopmental dealy" "" "0000325014" "05611" "00434765" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "CSS4" "neurodevelopmental dealy" "" "0000325015" "05611" "00434766" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "CSS4" "neurodevelopmental dealy" "" "0000325016" "05611" "00434767" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "CSS4" "neurodevelopmental dealy" "" "0000325017" "05611" "00434768" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "CSS4" "neurodevelopmental dealy" "" "0000325018" "05611" "00434769" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "CSS4" "neurodevelopmental dealy" "" "0000325019" "05611" "00434770" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "CSS4" "neurodevelopmental dealy" "" "0000325020" "05611" "00434771" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "CSS4" "neurodevelopmental dealy" "" "0000325021" "05611" "00434772" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "CSS4" "neurodevelopmental dealy" "" "0000325022" "05611" "00434773" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "CSS4" "neurodevelopmental dealy" "" "0000326676" "01018" "00436445" "04558" "Unknown" "1month" "feeding difficulties" "" "" "" "" "" "" "" "" "" "" "CSS syndrome" "" "" "0000330279" "00198" "00440369" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "Coffin-Siris syndrome-4 (MIM #614609)" "" "" "0000331151" "00156" "00441726" "01358" "Unknown" "1y" "fetus 140d-amenorrhea duration first ultra-sound anomaly" "" "" "" "" "" "" "" "" "" "" "CSS4" "Coffin-Siris syndrome" "" "0000331152" "00156" "00441727" "01358" "Isolated (sporadic)" "" "fetus 82d-amenorrhea duration first ultra-sound anomaly, pregnancy continued" "" "" "" "" "" "" "" "" "" "" "CSS4" "Coffin-Siris syndrome" "" "0000331153" "00156" "00441728" "01358" "Isolated (sporadic)" "4d" "fetus 145d-amenorrhea duration first ultra-sound anomaly; 4d-deceased" "" "" "" "" "" "" "" "" "" "" "CSS4" "Coffin-Siris syndrome" "" "0000337415" "00198" "00448205" "00006" "Isolated (sporadic)" "7y" "developmental delay; dextrocardia; congenital diaphragmatic hernia; strabismus; immune system dysfunction (recurrent otitis); hirsutism" "" "" "" "" "" "" "" "" "" "" "" "rare disorder" "" "0000342463" "00152" "00453806" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" ## Screenings ## Do not remove or alter this header ## ## Count = 137 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000001274" "00001503" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000001275" "00001504" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000001276" "00001505" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000001281" "00001510" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000001282" "00001511" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000001284" "00001513" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000001285" "00001514" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000001290" "00001519" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000001292" "00001521" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000001295" "00001524" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000001296" "00001525" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000001297" "00001526" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000001299" "00001528" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000001300" "00001529" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000001301" "00001530" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000001302" "00001531" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000001303" "00001532" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000001304" "00001533" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000001305" "00001534" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000001306" "00001535" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000001308" "00001537" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000001309" "00001538" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000001310" "00001539" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000001311" "00001540" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000001312" "00001541" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000001313" "00001542" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000001314" "00001543" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000001315" "00001544" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000001317" "00001546" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000001329" "00001558" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000048004" "00047878" "1" "00004" "01251" "2010-07-22 11:56:06" "" "" "SEQ" "DNA" "" "" "0000048005" "00047879" "1" "00004" "01251" "2010-07-22 11:56:06" "" "" "SEQ" "DNA" "" "" "0000048006" "00047880" "1" "00004" "01251" "2010-07-22 11:56:06" "" "" "SEQ" "DNA" "" "" "0000048134" "00048008" "1" "00004" "00004" "2011-06-23 15:51:44" "" "" "SEQ" "DNA" "" "" "0000048158" "00048033" "1" "01358" "01358" "2015-09-02 15:35:32" "" "" "SEQ" "DNA" "" "" "0000048159" "00048034" "1" "01358" "01358" "2015-09-02 15:38:37" "" "" "SEQ" "DNA" "" "" "0000048160" "00048035" "1" "01358" "01358" "2015-09-02 15:45:25" "" "" "SEQ" "DNA" "" "" "0000048161" "00048036" "1" "01358" "01358" "2015-09-02 15:49:48" "" "" "SEQ" "DNA" "" "" "0000048162" "00048037" "1" "01358" "01358" "2015-09-02 15:52:56" "" "" "SEQ" "DNA" "" "" "0000048163" "00048038" "1" "01358" "01358" "2015-09-02 15:55:54" "" "" "SEQ" "DNA" "" "" "0000048164" "00048039" "1" "01358" "01358" "2015-09-02 15:58:44" "" "" "SEQ" "DNA" "" "" "0000048165" "00048040" "1" "01358" "01358" "2015-09-02 16:01:35" "" "" "SEQ" "DNA" "" "" "0000048176" "00048051" "1" "01358" "01358" "2015-09-02 16:59:32" "" "" "SEQ" "DNA" "" "" "0000050351" "00050406" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000104499" "00104028" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000152885" "00152030" "1" "00006" "00115" "2010-07-22 11:56:06" "" "" "SEQ" "DNA" "" "" "0000152886" "00152031" "1" "00006" "00115" "2010-07-22 11:56:06" "" "" "SEQ" "DNA" "" "" "0000152887" "00152032" "1" "00006" "00115" "2010-07-22 11:56:06" "" "" "SEQ" "DNA" "" "" "0000152888" "00152033" "1" "00006" "00002" "2011-06-23 15:51:44" "" "" "SEQ" "DNA" "" "" "0000152889" "00152034" "1" "00006" "00002" "2011-06-23 15:51:44" "" "" "SEQ" "DNA" "" "" "0000152890" "00152035" "1" "00006" "00002" "2011-06-23 15:51:44" "" "" "SEQ" "DNA" "" "" "0000152891" "00152036" "1" "00006" "00002" "2011-06-23 15:51:44" "" "" "SEQ" "DNA" "" "" "0000152892" "00152037" "1" "00006" "00002" "2011-06-23 15:51:44" "" "" "SEQ" "DNA" "" "" "0000152893" "00152038" "1" "00006" "00002" "2011-06-23 15:51:44" "" "" "SEQ" "DNA" "" "" "0000152894" "00152039" "1" "00006" "00002" "2011-06-23 15:51:44" "" "" "SEQ" "DNA" "" "" "0000152895" "00152040" "1" "00006" "00002" "2011-06-23 15:51:44" "" "" "SEQ" "DNA" "" "" "0000152896" "00152041" "1" "00006" "00002" "2011-06-23 15:51:44" "" "" "SEQ" "DNA" "" "" "0000152897" "00152042" "1" "00006" "00002" "2011-06-23 15:51:44" "" "" "SEQ" "DNA" "" "" "0000174809" "00173919" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000174836" "00173946" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000174847" "00173957" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000174858" "00173968" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000174869" "00173979" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000174880" "00173990" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000174988" "00174098" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175070" "00174180" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175071" "00174181" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175072" "00174182" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175073" "00174183" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175074" "00174184" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175075" "00174185" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175081" "00174191" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175092" "00174202" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175102" "00174212" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175103" "00174213" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175104" "00174214" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175105" "00174215" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175106" "00174216" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175107" "00174217" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175138" "00174248" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175150" "00174260" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175151" "00174261" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175152" "00174262" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175153" "00174263" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175154" "00174264" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175155" "00174265" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175156" "00174266" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175157" "00174267" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175158" "00174268" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175159" "00174269" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175160" "00174270" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175161" "00174271" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175162" "00174272" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175163" "00174273" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175164" "00174274" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175165" "00174275" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175166" "00174276" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175167" "00174277" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175168" "00174278" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175169" "00174279" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175170" "00174280" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175171" "00174281" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175172" "00174282" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175173" "00174283" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175174" "00174284" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175175" "00174285" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000270492" "00269350" "1" "01164" "01164" "2019-11-20 18:18:37" "" "" "SEQ-NG-S" "DNA" "" "" "0000293193" "00292025" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000301365" "00300247" "1" "01164" "01164" "2020-04-24 15:07:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000308283" "00307142" "1" "03753" "03753" "2020-08-04 07:20:11" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "gene panel" "0000316215" "00315039" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel" "0000326617" "00325406" "1" "00006" "00006" "2021-01-02 12:18:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000381989" "00380775" "1" "00000" "03840" "2021-08-23 12:15:23" "" "" "SEQ-NG-I" "DNA" "" "whole exome sequencing" "0000408242" "00406996" "1" "00006" "00006" "2022-04-05 15:38:44" "" "" "SEQ-NG" "DNA" "" "81-gene panel" "0000428975" "00427654" "1" "00006" "00006" "2022-12-08 09:47:44" "" "" "SEQ-NG" "DNA" "" "WES" "0000436233" "00434761" "1" "00006" "00006" "2023-04-07 12:06:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436234" "00434762" "1" "00006" "00006" "2023-04-07 12:06:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436235" "00434763" "1" "00006" "00006" "2023-04-07 12:06:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436236" "00434764" "1" "00006" "00006" "2023-04-07 12:06:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436237" "00434765" "1" "00006" "00006" "2023-04-07 12:06:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436238" "00434766" "1" "00006" "00006" "2023-04-07 12:06:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436239" "00434767" "1" "00006" "00006" "2023-04-07 12:06:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436240" "00434768" "1" "00006" "00006" "2023-04-07 12:06:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436241" "00434769" "1" "00006" "00006" "2023-04-07 12:06:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436242" "00434770" "1" "00006" "00006" "2023-04-07 12:06:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436243" "00434771" "1" "00006" "00006" "2023-04-07 12:06:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436244" "00434772" "1" "00006" "00006" "2023-04-07 12:06:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436245" "00434773" "1" "00006" "00006" "2023-04-07 12:06:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436277" "00434805" "1" "00006" "00006" "2023-04-07 15:07:34" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000436278" "00434806" "1" "00006" "00006" "2023-04-07 15:10:14" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000437929" "00436445" "1" "04558" "04558" "2023-09-16 13:48:19" "" "" "SEQ-NG" "DNA" "" "" "0000441854" "00440369" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443212" "00441726" "1" "01358" "00006" "2023-11-09 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443213" "00441727" "1" "01358" "00006" "2023-11-09 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000443214" "00441728" "1" "01358" "00006" "2023-11-09 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000449780" "00448205" "1" "00006" "00006" "2024-02-22 17:47:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455418" "00453806" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 257 "{{screeningid}}" "{{geneid}}" "0000001274" "ARID1A" "0000001274" "ARID1B" "0000001274" "SMARCA2" "0000001274" "SMARCA4" "0000001274" "SMARCB1" "0000001274" "SMARCE1" "0000001275" "ARID1A" "0000001275" "ARID1B" "0000001275" "SMARCA2" "0000001275" "SMARCA4" "0000001275" "SMARCB1" "0000001275" "SMARCE1" "0000001276" "ARID1A" "0000001276" "ARID1B" "0000001276" "SMARCA2" "0000001276" "SMARCA4" "0000001276" "SMARCB1" "0000001276" "SMARCE1" "0000001281" "ARID1A" "0000001281" "ARID1B" "0000001281" "SMARCA2" "0000001281" "SMARCA4" "0000001281" "SMARCB1" "0000001281" "SMARCE1" "0000001282" "ARID1A" "0000001282" "ARID1B" "0000001282" "SMARCA2" "0000001282" "SMARCA4" "0000001282" "SMARCB1" "0000001282" "SMARCE1" "0000001284" "ARID1A" "0000001284" "ARID1B" "0000001284" "SMARCA2" "0000001284" "SMARCA4" "0000001284" "SMARCB1" "0000001284" "SMARCE1" "0000001285" "ARID1A" "0000001285" "ARID1B" "0000001285" "SMARCA2" "0000001285" "SMARCA4" "0000001285" "SMARCB1" "0000001285" "SMARCE1" "0000001290" "ARID1A" "0000001290" "ARID1B" "0000001290" "SMARCA2" "0000001290" "SMARCA4" "0000001290" "SMARCB1" "0000001290" "SMARCE1" "0000001292" "ARID1A" "0000001292" "ARID1B" "0000001292" "SMARCA2" "0000001292" "SMARCA4" "0000001292" "SMARCB1" "0000001292" "SMARCE1" "0000001295" "ARID1A" "0000001295" "ARID1B" "0000001295" "SMARCA2" "0000001295" "SMARCA4" "0000001295" "SMARCB1" "0000001295" "SMARCE1" "0000001296" "ARID1A" "0000001296" "ARID1B" "0000001296" "SMARCA2" "0000001296" "SMARCA4" "0000001296" "SMARCB1" "0000001296" "SMARCE1" "0000001297" "ARID1A" "0000001297" "ARID1B" "0000001297" "SMARCA2" "0000001297" "SMARCA4" "0000001297" "SMARCB1" "0000001297" "SMARCE1" "0000001299" "ARID1A" "0000001299" "ARID1B" "0000001299" "SMARCA2" "0000001299" "SMARCA4" "0000001299" "SMARCB1" "0000001299" "SMARCE1" "0000001300" "ARID1A" "0000001300" "ARID1B" "0000001300" "SMARCA2" "0000001300" "SMARCA4" "0000001300" "SMARCB1" "0000001300" "SMARCE1" "0000001301" "ARID1A" "0000001301" "ARID1B" "0000001301" "SMARCA2" "0000001301" "SMARCA4" "0000001301" "SMARCB1" "0000001301" "SMARCE1" "0000001302" "ARID1A" "0000001302" "ARID1B" "0000001302" "SMARCA2" "0000001302" "SMARCA4" "0000001302" "SMARCB1" "0000001302" "SMARCE1" "0000001303" "ARID1A" "0000001303" "ARID1B" "0000001303" "SMARCA2" "0000001303" "SMARCA4" "0000001303" "SMARCB1" "0000001303" "SMARCE1" "0000001304" "ARID1A" "0000001304" "ARID1B" "0000001304" "SMARCA2" "0000001304" "SMARCA4" "0000001304" "SMARCB1" "0000001304" "SMARCE1" "0000001305" "ARID1A" "0000001305" "ARID1B" "0000001305" "SMARCA2" "0000001305" "SMARCA4" "0000001305" "SMARCB1" "0000001305" "SMARCE1" "0000001306" "ARID1A" "0000001306" "ARID1B" "0000001306" "SMARCA2" "0000001306" "SMARCA4" "0000001306" "SMARCB1" "0000001306" "SMARCE1" "0000001308" "ARID1A" "0000001308" "ARID1B" "0000001308" "SMARCA2" "0000001308" "SMARCA4" "0000001308" "SMARCB1" "0000001308" "SMARCE1" "0000001309" "ARID1A" "0000001309" "ARID1B" "0000001309" "SMARCA2" "0000001309" "SMARCA4" "0000001309" "SMARCB1" "0000001309" "SMARCE1" "0000001310" "ARID1A" "0000001310" "ARID1B" "0000001310" "SMARCA2" "0000001310" "SMARCA4" "0000001310" "SMARCB1" "0000001310" "SMARCE1" "0000001311" "ARID1A" "0000001311" "ARID1B" "0000001311" "SMARCA2" "0000001311" "SMARCA4" "0000001311" "SMARCB1" "0000001311" "SMARCE1" "0000001312" "ARID1A" "0000001312" "ARID1B" "0000001312" "SMARCA2" "0000001312" "SMARCA4" "0000001312" "SMARCB1" "0000001312" "SMARCE1" "0000001313" "ARID1A" "0000001313" "ARID1B" "0000001313" "SMARCA2" "0000001313" "SMARCA4" "0000001313" "SMARCB1" "0000001313" "SMARCE1" "0000001314" "ARID1A" "0000001314" "ARID1B" "0000001314" "SMARCA2" "0000001314" "SMARCA4" "0000001314" "SMARCB1" "0000001314" "SMARCE1" "0000001315" "ARID1A" "0000001315" "ARID1B" "0000001315" "SMARCA2" "0000001315" "SMARCA4" "0000001315" "SMARCB1" "0000001315" "SMARCE1" "0000001317" "ARID1A" "0000001317" "ARID1B" "0000001317" "SMARCA2" "0000001317" "SMARCA4" "0000001317" "SMARCB1" "0000001317" "SMARCE1" "0000001329" "ARID1A" "0000001329" "ARID1B" "0000001329" "SMARCA2" "0000001329" "SMARCA4" "0000001329" "SMARCB1" "0000001329" "SMARCE1" "0000048004" "SMARCA4" "0000048005" "SMARCA4" "0000048006" "SMARCA4" "0000048134" "SMARCA4" "0000048158" "SMARCA4" "0000048159" "SMARCA4" "0000048161" "SMARCA4" "0000048162" "SMARCA4" "0000048163" "SMARCA4" "0000048164" "SMARCA4" "0000048165" "SMARCA4" "0000048176" "SMARCA4" "0000050351" "SMARCA4" "0000152885" "SMARCA4" "0000152886" "SMARCA4" "0000152887" "SMARCA4" "0000152888" "SMARCA4" "0000152889" "SMARCA4" "0000152890" "SMARCA4" "0000152891" "SMARCA4" "0000152892" "SMARCA4" "0000152893" "SMARCA4" "0000152894" "SMARCA4" "0000152895" "SMARCA4" "0000152896" "SMARCA4" "0000152897" "SMARCA4" "0000174809" "SMARCA4" "0000174836" "SMARCA4" "0000174847" "SMARCA4" "0000174858" "SMARCA4" "0000174869" "SMARCA4" "0000174880" "SMARCA4" "0000174988" "SMARCA4" "0000175070" "SMARCA4" "0000175071" "SMARCA4" "0000175072" "SMARCA4" "0000175073" "SMARCA4" "0000175074" "SMARCA4" "0000175075" "SMARCA4" "0000175081" "SMARCA4" "0000175092" "SMARCA4" "0000175102" "SMARCA4" "0000175103" "SMARCA4" "0000175104" "SMARCA4" "0000175105" "SMARCA4" "0000175106" "SMARCA4" "0000175107" "SMARCA4" "0000175138" "SMARCA4" "0000175150" "SMARCA4" "0000175151" "SMARCA4" "0000175152" "SMARCA4" "0000175153" "SMARCA4" "0000175154" "SMARCA4" "0000175155" "SMARCA4" "0000175156" "SMARCA4" "0000175157" "SMARCA4" "0000175158" "SMARCA4" "0000175159" "SMARCA4" "0000175160" "SMARCA4" "0000175161" "SMARCA4" "0000175162" "SMARCA4" "0000175163" "SMARCA4" "0000175164" "SMARCA4" "0000175165" "SMARCA4" "0000175166" "SMARCA4" "0000175167" "SMARCA4" "0000175168" "SMARCA4" "0000175169" "SMARCA4" "0000175170" "SMARCA4" "0000175171" "SMARCA4" "0000175172" "SMARCA4" "0000175173" "SMARCA4" "0000175174" "SMARCA4" "0000175175" "SMARCA4" "0000316215" "SMARCA4" "0000326617" "SMARCA4" "0000437929" "SMARCA4" ## 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 = 442 "{{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}}" "0000018686" "0" "90" "19" "11144027" "11144027" "subst" "4.06537E-6" "00074" "SMARCA4_000016" "g.11144027G>A" "" "{PMID:Santen 2013:23929686}" "" "" "" "Unknown" "" "" "0" "" "" "g.11033351G>A" "" "pathogenic (dominant)" "" "0000018687" "0" "90" "19" "11138624" "11138624" "subst" "0" "00074" "SMARCA4_000015" "g.11138624A>G" "" "{PMID:Santen 2013:23929686}" "" "" "variant not in mother" "Unknown" "" "" "0" "" "" "g.11027948A>G" "" "pathogenic (dominant)" "" "0000018688" "0" "90" "19" "11101929" "11101929" "subst" "0" "00074" "SMARCA4_000023" "g.11101929C>A" "" "{PMID:Santen 2013:23929686}" "" "" "" "De novo" "" "" "0" "" "" "g.10991253C>A" "" "pathogenic (dominant)" "" "0000018689" "0" "90" "19" "11136143" "11136143" "subst" "0" "00074" "SMARCA4_000033" "g.11136143C>T" "" "{PMID:Santen 2013:23929686}" "" "" "" "De novo" "" "" "0" "" "" "g.11025467C>T" "" "pathogenic (dominant)" "" "0000018699" "0" "55" "19" "11101993" "11101993" "subst" "0.0255521" "00074" "SMARCA4_000024" "g.11101993G>A" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10991317G>A" "" "VUS" "" "0000018700" "0" "55" "19" "11102007" "11102007" "subst" "0.00289631" "00074" "SMARCA4_000025" "g.11102007C>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10991331C>T" "" "VUS" "" "0000018701" "0" "55" "19" "11102008" "11102008" "subst" "0.000981062" "00074" "SMARCA4_000026" "g.11102008C>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10991332C>T" "" "VUS" "" "0000018702" "0" "55" "19" "11105593" "11105593" "subst" "0.0249594" "00074" "SMARCA4_000027" "g.11105593A>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10994917A>G" "" "VUS" "" "0000018703" "0" "55" "19" "11105608" "11105608" "subst" "0.327963" "00074" "SMARCA4_000038" "g.11105608T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10994932T>C" "" "VUS" "" "0000018704" "0" "55" "19" "11105608" "11105608" "subst" "0.327963" "00074" "SMARCA4_000038" "g.11105608T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10994932T>C" "" "VUS" "" "0000018705" "0" "55" "19" "11105608" "11105608" "subst" "0.327963" "00074" "SMARCA4_000038" "g.11105608T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10994932T>C" "" "VUS" "" "0000018706" "0" "55" "19" "11105608" "11105608" "subst" "0.327963" "00074" "SMARCA4_000038" "g.11105608T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10994932T>C" "" "VUS" "" "0000018707" "0" "55" "19" "11105608" "11105608" "subst" "0.327963" "00074" "SMARCA4_000038" "g.11105608T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10994932T>C" "" "VUS" "" "0000018708" "0" "55" "19" "11105608" "11105608" "subst" "0.327963" "00074" "SMARCA4_000038" "g.11105608T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10994932T>C" "" "VUS" "" "0000018709" "0" "55" "19" "11105608" "11105608" "subst" "0.327963" "00074" "SMARCA4_000038" "g.11105608T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10994932T>C" "" "VUS" "" "0000018710" "3" "55" "19" "11105608" "11105608" "subst" "0.327963" "00074" "SMARCA4_000038" "g.11105608T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10994932T>C" "" "VUS" "" "0000018711" "0" "55" "19" "11105608" "11105608" "subst" "0.327963" "00074" "SMARCA4_000038" "g.11105608T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10994932T>C" "" "VUS" "" "0000018712" "0" "55" "19" "11105608" "11105608" "subst" "0.327963" "00074" "SMARCA4_000038" "g.11105608T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10994932T>C" "" "VUS" "" "0000018713" "0" "55" "19" "11105608" "11105608" "subst" "0.327963" "00074" "SMARCA4_000038" "g.11105608T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10994932T>C" "" "VUS" "" "0000018714" "0" "55" "19" "11105608" "11105608" "subst" "0.327963" "00074" "SMARCA4_000038" "g.11105608T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10994932T>C" "" "VUS" "" "0000018715" "0" "55" "19" "11105608" "11105608" "subst" "0.327963" "00074" "SMARCA4_000038" "g.11105608T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10994932T>C" "" "VUS" "" "0000018716" "0" "55" "19" "11105608" "11105608" "subst" "0.327963" "00074" "SMARCA4_000038" "g.11105608T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10994932T>C" "" "VUS" "" "0000018717" "0" "55" "19" "11105608" "11105608" "subst" "0.327963" "00074" "SMARCA4_000038" "g.11105608T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10994932T>C" "" "VUS" "" "0000018718" "0" "55" "19" "11105608" "11105608" "subst" "0.327963" "00074" "SMARCA4_000038" "g.11105608T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10994932T>C" "" "VUS" "" "0000018719" "0" "55" "19" "11107085" "11107085" "subst" "0.0269862" "00074" "SMARCA4_000039" "g.11107085G>A" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10996409G>A" "" "VUS" "" "0000018720" "0" "55" "19" "11107085" "11107085" "subst" "0.0269862" "00074" "SMARCA4_000039" "g.11107085G>A" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10996409G>A" "" "VUS" "" "0000018721" "0" "55" "19" "11107133" "11107133" "subst" "0.340171" "00074" "SMARCA4_000013" "g.11107133T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10996457T>C" "" "VUS" "" "0000018722" "0" "55" "19" "11107133" "11107133" "subst" "0.340171" "00074" "SMARCA4_000013" "g.11107133T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10996457T>C" "" "VUS" "" "0000018723" "0" "55" "19" "11107133" "11107133" "subst" "0.340171" "00074" "SMARCA4_000013" "g.11107133T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10996457T>C" "" "VUS" "" "0000018724" "0" "55" "19" "11107133" "11107133" "subst" "0.340171" "00074" "SMARCA4_000013" "g.11107133T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10996457T>C" "" "VUS" "" "0000018725" "0" "55" "19" "11107133" "11107133" "subst" "0.340171" "00074" "SMARCA4_000013" "g.11107133T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10996457T>C" "" "VUS" "" "0000018726" "0" "55" "19" "11107133" "11107133" "subst" "0.340171" "00074" "SMARCA4_000013" "g.11107133T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10996457T>C" "" "VUS" "" "0000018727" "3" "55" "19" "11107133" "11107133" "subst" "0.340171" "00074" "SMARCA4_000013" "g.11107133T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10996457T>C" "" "VUS" "" "0000018728" "0" "55" "19" "11107133" "11107133" "subst" "0.340171" "00074" "SMARCA4_000013" "g.11107133T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10996457T>C" "" "VUS" "" "0000018729" "3" "55" "19" "11107133" "11107133" "subst" "0.340171" "00074" "SMARCA4_000013" "g.11107133T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10996457T>C" "" "VUS" "" "0000018730" "0" "55" "19" "11107133" "11107133" "subst" "0.340171" "00074" "SMARCA4_000013" "g.11107133T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10996457T>C" "" "VUS" "" "0000018731" "0" "55" "19" "11107133" "11107133" "subst" "0.340171" "00074" "SMARCA4_000013" "g.11107133T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10996457T>C" "" "VUS" "" "0000018732" "0" "55" "19" "11107133" "11107133" "subst" "0.340171" "00074" "SMARCA4_000013" "g.11107133T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10996457T>C" "" "VUS" "" "0000018733" "3" "55" "19" "11107133" "11107133" "subst" "0.340171" "00074" "SMARCA4_000013" "g.11107133T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10996457T>C" "" "VUS" "" "0000018734" "0" "55" "19" "11107133" "11107133" "subst" "0.340171" "00074" "SMARCA4_000013" "g.11107133T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10996457T>C" "" "VUS" "" "0000018735" "0" "55" "19" "11107133" "11107133" "subst" "0.340171" "00074" "SMARCA4_000013" "g.11107133T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10996457T>C" "" "VUS" "" "0000018736" "0" "55" "19" "11107133" "11107133" "subst" "0.340171" "00074" "SMARCA4_000013" "g.11107133T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10996457T>C" "" "VUS" "" "0000018737" "0" "55" "19" "11107133" "11107133" "subst" "0.340171" "00074" "SMARCA4_000013" "g.11107133T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10996457T>C" "" "VUS" "" "0000018738" "0" "55" "19" "11107133" "11107133" "subst" "0.340171" "00074" "SMARCA4_000013" "g.11107133T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10996457T>C" "" "VUS" "" "0000018739" "0" "55" "19" "11107133" "11107133" "subst" "0.340171" "00074" "SMARCA4_000013" "g.11107133T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10996457T>C" "" "VUS" "" "0000018740" "0" "55" "19" "11107133" "11107133" "subst" "0.340171" "00074" "SMARCA4_000013" "g.11107133T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10996457T>C" "" "VUS" "" "0000018741" "0" "55" "19" "11113997" "11113997" "subst" "0.0659406" "00074" "SMARCA4_000029" "g.11113997G>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11003321G>T" "" "VUS" "" "0000018742" "0" "55" "19" "11113997" "11113997" "subst" "0.0659406" "00074" "SMARCA4_000029" "g.11113997G>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11003321G>T" "" "VUS" "" "0000018743" "0" "55" "19" "11113997" "11113997" "subst" "0.0659406" "00074" "SMARCA4_000029" "g.11113997G>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11003321G>T" "" "VUS" "" "0000018744" "0" "55" "19" "11113997" "11113997" "subst" "0.0659406" "00074" "SMARCA4_000029" "g.11113997G>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11003321G>T" "" "VUS" "" "0000018745" "0" "55" "19" "11113997" "11113997" "subst" "0.0659406" "00074" "SMARCA4_000029" "g.11113997G>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11003321G>T" "" "VUS" "" "0000018746" "0" "55" "19" "11113997" "11113997" "subst" "0.0659406" "00074" "SMARCA4_000029" "g.11113997G>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11003321G>T" "" "VUS" "" "0000018747" "0" "55" "19" "11118711" "11118711" "subst" "0.0246915" "00074" "SMARCA4_000030" "g.11118711C>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11008035C>T" "" "VUS" "" "0000018748" "0" "55" "19" "11118711" "11118711" "subst" "0.0246915" "00074" "SMARCA4_000030" "g.11118711C>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11008035C>T" "" "VUS" "" "0000018749" "0" "55" "19" "11123738" "11123738" "subst" "0.0107178" "00074" "SMARCA4_000031" "g.11123738C>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11013062C>T" "" "VUS" "" "0000018750" "0" "55" "19" "11123738" "11123738" "subst" "0.0107178" "00074" "SMARCA4_000031" "g.11123738C>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11013062C>T" "" "VUS" "" "0000018751" "0" "55" "19" "11123738" "11123738" "subst" "0.0107178" "00074" "SMARCA4_000031" "g.11123738C>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11013062C>T" "" "VUS" "" "0000018752" "0" "55" "19" "11123738" "11123738" "subst" "0.0107178" "00074" "SMARCA4_000031" "g.11123738C>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11013062C>T" "" "VUS" "" "0000018753" "0" "55" "19" "11129600" "11129600" "subst" "0.0810988" "00074" "SMARCA4_000032" "g.11129600C>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11018924C>T" "" "VUS" "" "0000018754" "0" "55" "19" "11129600" "11129600" "subst" "0.0810988" "00074" "SMARCA4_000032" "g.11129600C>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11018924C>T" "" "VUS" "" "0000018755" "0" "55" "19" "11129600" "11129600" "subst" "0.0810988" "00074" "SMARCA4_000032" "g.11129600C>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11018924C>T" "" "VUS" "" "0000018756" "0" "55" "19" "11129600" "11129600" "subst" "0.0810988" "00074" "SMARCA4_000032" "g.11129600C>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11018924C>T" "" "VUS" "" "0000018757" "0" "55" "19" "11129600" "11129600" "subst" "0.0810988" "00074" "SMARCA4_000032" "g.11129600C>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11018924C>T" "" "VUS" "" "0000018758" "0" "55" "19" "11129600" "11129600" "subst" "0.0810988" "00074" "SMARCA4_000032" "g.11129600C>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11018924C>T" "" "VUS" "" "0000018759" "0" "55" "19" "11129600" "11129600" "subst" "0.0810988" "00074" "SMARCA4_000032" "g.11129600C>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11018924C>T" "" "VUS" "" "0000018760" "0" "55" "19" "11129600" "11129600" "subst" "0.0810988" "00074" "SMARCA4_000032" "g.11129600C>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11018924C>T" "" "VUS" "" "0000018761" "0" "55" "19" "11129600" "11129600" "subst" "0.0810988" "00074" "SMARCA4_000032" "g.11129600C>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11018924C>T" "" "VUS" "" "0000018762" "0" "55" "19" "11129600" "11129600" "subst" "0.0810988" "00074" "SMARCA4_000032" "g.11129600C>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11018924C>T" "" "VUS" "" "0000018763" "0" "55" "19" "11129600" "11129600" "subst" "0.0810988" "00074" "SMARCA4_000032" "g.11129600C>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11018924C>T" "" "VUS" "" "0000018764" "0" "55" "19" "11136143" "11136143" "subst" "0" "00074" "SMARCA4_000033" "g.11136143C>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11025467C>T" "" "VUS" "" "0000018765" "0" "55" "19" "11136215" "11136215" "subst" "0.412419" "00074" "SMARCA4_000014" "g.11136215C>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11025539C>G" "" "VUS" "" "0000018766" "0" "55" "19" "11136215" "11136215" "subst" "0.412419" "00074" "SMARCA4_000014" "g.11136215C>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11025539C>G" "" "VUS" "" "0000018767" "0" "55" "19" "11136215" "11136215" "subst" "0.412419" "00074" "SMARCA4_000014" "g.11136215C>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11025539C>G" "" "VUS" "" "0000018768" "0" "55" "19" "11136215" "11136215" "subst" "0.412419" "00074" "SMARCA4_000014" "g.11136215C>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11025539C>G" "" "VUS" "" "0000018769" "0" "55" "19" "11136215" "11136215" "subst" "0.412419" "00074" "SMARCA4_000014" "g.11136215C>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11025539C>G" "" "VUS" "" "0000018770" "3" "55" "19" "11136215" "11136215" "subst" "0.412419" "00074" "SMARCA4_000014" "g.11136215C>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11025539C>G" "" "VUS" "" "0000018771" "0" "55" "19" "11136215" "11136215" "subst" "0.412419" "00074" "SMARCA4_000014" "g.11136215C>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11025539C>G" "" "VUS" "" "0000018772" "0" "55" "19" "11136215" "11136215" "subst" "0.412419" "00074" "SMARCA4_000014" "g.11136215C>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11025539C>G" "" "VUS" "" "0000018773" "3" "55" "19" "11136215" "11136215" "subst" "0.412419" "00074" "SMARCA4_000014" "g.11136215C>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11025539C>G" "" "VUS" "" "0000018774" "0" "55" "19" "11136215" "11136215" "subst" "0.412419" "00074" "SMARCA4_000014" "g.11136215C>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11025539C>G" "" "VUS" "" "0000018775" "0" "55" "19" "11136215" "11136215" "subst" "0.412419" "00074" "SMARCA4_000014" "g.11136215C>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11025539C>G" "" "VUS" "" "0000018776" "0" "55" "19" "11136215" "11136215" "subst" "0.412419" "00074" "SMARCA4_000014" "g.11136215C>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11025539C>G" "" "VUS" "" "0000018777" "0" "55" "19" "11136215" "11136215" "subst" "0.412419" "00074" "SMARCA4_000014" "g.11136215C>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11025539C>G" "" "VUS" "" "0000018778" "0" "55" "19" "11136215" "11136215" "subst" "0.412419" "00074" "SMARCA4_000014" "g.11136215C>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11025539C>G" "" "VUS" "" "0000018779" "0" "55" "19" "11136215" "11136215" "subst" "0.412419" "00074" "SMARCA4_000014" "g.11136215C>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11025539C>G" "" "VUS" "" "0000018780" "0" "55" "19" "11136215" "11136215" "subst" "0.412419" "00074" "SMARCA4_000014" "g.11136215C>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11025539C>G" "" "VUS" "" "0000018781" "0" "55" "19" "11136215" "11136215" "subst" "0.412419" "00074" "SMARCA4_000014" "g.11136215C>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11025539C>G" "" "VUS" "" "0000018782" "0" "55" "19" "11136215" "11136215" "subst" "0.412419" "00074" "SMARCA4_000014" "g.11136215C>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11025539C>G" "" "VUS" "" "0000018783" "0" "55" "19" "11136215" "11136215" "subst" "0.412419" "00074" "SMARCA4_000014" "g.11136215C>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11025539C>G" "" "VUS" "" "0000018784" "0" "55" "19" "11096851" "11096851" "subst" "0.0277298" "00074" "SMARCA4_000028" "g.11096851A>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10986175A>G" "" "VUS" "" "0000018785" "0" "55" "19" "11145691" "11145691" "subst" "0.0609736" "00074" "SMARCA4_000034" "g.11145691C>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11035015C>T" "" "VUS" "" "0000018786" "0" "55" "19" "11145691" "11145691" "subst" "0.0609736" "00074" "SMARCA4_000034" "g.11145691C>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11035015C>T" "" "VUS" "" "0000018787" "0" "55" "19" "11145691" "11145691" "subst" "0.0609736" "00074" "SMARCA4_000034" "g.11145691C>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11035015C>T" "" "VUS" "" "0000018788" "0" "55" "19" "11145691" "11145691" "subst" "0.0609736" "00074" "SMARCA4_000034" "g.11145691C>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11035015C>T" "" "VUS" "" "0000018789" "0" "55" "19" "11145691" "11145691" "subst" "0.0609736" "00074" "SMARCA4_000034" "g.11145691C>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11035015C>T" "" "VUS" "" "0000018790" "0" "55" "19" "11145691" "11145691" "subst" "0.0609736" "00074" "SMARCA4_000034" "g.11145691C>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11035015C>T" "" "VUS" "" "0000018791" "0" "55" "19" "11145691" "11145691" "subst" "0.0609736" "00074" "SMARCA4_000034" "g.11145691C>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11035015C>T" "" "VUS" "" "0000018792" "0" "55" "19" "11145691" "11145691" "subst" "0.0609736" "00074" "SMARCA4_000034" "g.11145691C>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11035015C>T" "" "VUS" "" "0000018793" "0" "55" "19" "11145853" "11145853" "subst" "0.0633294" "00074" "SMARCA4_000035" "g.11145853G>A" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11035177G>A" "" "VUS" "" "0000018794" "0" "55" "19" "11145853" "11145853" "subst" "0.0633294" "00074" "SMARCA4_000035" "g.11145853G>A" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11035177G>A" "" "VUS" "" "0000018795" "0" "55" "19" "11145853" "11145853" "subst" "0.0633294" "00074" "SMARCA4_000035" "g.11145853G>A" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11035177G>A" "" "VUS" "" "0000018796" "0" "55" "19" "11145853" "11145853" "subst" "0.0633294" "00074" "SMARCA4_000035" "g.11145853G>A" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11035177G>A" "" "VUS" "" "0000018797" "0" "55" "19" "11145853" "11145853" "subst" "0.0633294" "00074" "SMARCA4_000035" "g.11145853G>A" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11035177G>A" "" "VUS" "" "0000018798" "0" "55" "19" "11145853" "11145853" "subst" "0.0633294" "00074" "SMARCA4_000035" "g.11145853G>A" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11035177G>A" "" "VUS" "" "0000018799" "0" "55" "19" "11145853" "11145853" "subst" "0.0633294" "00074" "SMARCA4_000035" "g.11145853G>A" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11035177G>A" "" "VUS" "" "0000018800" "0" "55" "19" "11145853" "11145853" "subst" "0.0633294" "00074" "SMARCA4_000035" "g.11145853G>A" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11035177G>A" "" "VUS" "" "0000018801" "0" "55" "19" "11151970" "11151970" "subst" "0.000342921" "00074" "SMARCA4_000036" "g.11151970A>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11041294A>G" "" "VUS" "" "0000018802" "0" "55" "19" "11168896" "11168896" "subst" "0.338032" "00074" "SMARCA4_000037" "g.11168896A>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11058220A>G" "" "VUS" "" "0000018803" "0" "55" "19" "11168896" "11168896" "subst" "0.338032" "00074" "SMARCA4_000037" "g.11168896A>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11058220A>G" "" "VUS" "" "0000018804" "0" "55" "19" "11168896" "11168896" "subst" "0.338032" "00074" "SMARCA4_000037" "g.11168896A>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11058220A>G" "" "VUS" "" "0000018805" "0" "55" "19" "11168896" "11168896" "subst" "0.338032" "00074" "SMARCA4_000037" "g.11168896A>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11058220A>G" "" "VUS" "" "0000018806" "0" "55" "19" "11168896" "11168896" "subst" "0.338032" "00074" "SMARCA4_000037" "g.11168896A>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11058220A>G" "" "VUS" "" "0000018807" "0" "55" "19" "11168896" "11168896" "subst" "0.338032" "00074" "SMARCA4_000037" "g.11168896A>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11058220A>G" "" "VUS" "" "0000018808" "0" "55" "19" "11168896" "11168896" "subst" "0.338032" "00074" "SMARCA4_000037" "g.11168896A>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11058220A>G" "" "VUS" "" "0000018809" "0" "55" "19" "11168896" "11168896" "subst" "0.338032" "00074" "SMARCA4_000037" "g.11168896A>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11058220A>G" "" "VUS" "" "0000018810" "0" "55" "19" "11168896" "11168896" "subst" "0.338032" "00074" "SMARCA4_000037" "g.11168896A>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11058220A>G" "" "VUS" "" "0000018811" "0" "55" "19" "11168896" "11168896" "subst" "0.338032" "00074" "SMARCA4_000037" "g.11168896A>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11058220A>G" "" "VUS" "" "0000018812" "0" "55" "19" "11168896" "11168896" "subst" "0.338032" "00074" "SMARCA4_000037" "g.11168896A>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11058220A>G" "" "VUS" "" "0000018813" "0" "55" "19" "11168896" "11168896" "subst" "0.338032" "00074" "SMARCA4_000037" "g.11168896A>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11058220A>G" "" "VUS" "" "0000018814" "0" "55" "19" "11168896" "11168896" "subst" "0.338032" "00074" "SMARCA4_000037" "g.11168896A>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11058220A>G" "" "VUS" "" "0000018815" "0" "55" "19" "11169514" "11169514" "subst" "0.0401415" "00074" "SMARCA4_000017" "g.11169514C>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11058838C>T" "" "VUS" "" "0000018816" "0" "55" "19" "11169514" "11169514" "subst" "0.0401415" "00074" "SMARCA4_000017" "g.11169514C>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11058838C>T" "" "VUS" "" "0000018817" "0" "55" "19" "11169514" "11169514" "subst" "0.0401415" "00074" "SMARCA4_000017" "g.11169514C>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11058838C>T" "" "VUS" "" "0000018818" "0" "55" "19" "11169514" "11169514" "subst" "0.0401415" "00074" "SMARCA4_000017" "g.11169514C>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11058838C>T" "" "VUS" "" "0000018819" "0" "55" "19" "11170696" "11170696" "subst" "0.00940856" "00074" "SMARCA4_000019" "g.11170696G>A" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11060020G>A" "" "VUS" "" "0000018820" "0" "55" "19" "11170677" "11170677" "subst" "0.0168056" "00074" "SMARCA4_000018" "g.11170677A>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11060001A>G" "" "VUS" "" "0000018821" "0" "55" "19" "11170677" "11170677" "subst" "0.0168056" "00074" "SMARCA4_000018" "g.11170677A>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11060001A>G" "" "VUS" "" "0000018822" "0" "55" "19" "11170839" "11170839" "subst" "0.262453" "00074" "SMARCA4_000020" "g.11170839T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11060163T>C" "" "VUS" "" "0000018823" "0" "55" "19" "11170839" "11170839" "subst" "0.262453" "00074" "SMARCA4_000020" "g.11170839T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11060163T>C" "" "VUS" "" "0000018824" "0" "55" "19" "11170839" "11170839" "subst" "0.262453" "00074" "SMARCA4_000020" "g.11170839T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11060163T>C" "" "VUS" "" "0000018825" "0" "55" "19" "11170839" "11170839" "subst" "0.262453" "00074" "SMARCA4_000020" "g.11170839T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11060163T>C" "" "VUS" "" "0000018826" "0" "55" "19" "11170839" "11170839" "subst" "0.262453" "00074" "SMARCA4_000020" "g.11170839T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11060163T>C" "" "VUS" "" "0000018827" "0" "55" "19" "11170839" "11170839" "subst" "0.262453" "00074" "SMARCA4_000020" "g.11170839T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11060163T>C" "" "VUS" "" "0000018828" "0" "55" "19" "11170839" "11170839" "subst" "0.262453" "00074" "SMARCA4_000020" "g.11170839T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11060163T>C" "" "VUS" "" "0000018829" "0" "55" "19" "11170839" "11170839" "subst" "0.262453" "00074" "SMARCA4_000020" "g.11170839T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11060163T>C" "" "VUS" "" "0000018830" "0" "55" "19" "11170839" "11170839" "subst" "0.262453" "00074" "SMARCA4_000020" "g.11170839T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11060163T>C" "" "VUS" "" "0000018831" "0" "55" "19" "11170839" "11170839" "subst" "0.262453" "00074" "SMARCA4_000020" "g.11170839T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11060163T>C" "" "VUS" "" "0000018832" "0" "55" "19" "11170839" "11170839" "subst" "0.262453" "00074" "SMARCA4_000020" "g.11170839T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11060163T>C" "" "VUS" "" "0000018833" "0" "55" "19" "11170839" "11170839" "subst" "0.262453" "00074" "SMARCA4_000020" "g.11170839T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11060163T>C" "" "VUS" "" "0000018834" "0" "55" "19" "11170839" "11170839" "subst" "0.262453" "00074" "SMARCA4_000020" "g.11170839T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11060163T>C" "" "VUS" "" "0000018835" "0" "55" "19" "11170839" "11170839" "subst" "0.262453" "00074" "SMARCA4_000020" "g.11170839T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11060163T>C" "" "VUS" "" "0000018836" "0" "55" "19" "11170839" "11170839" "subst" "0.262453" "00074" "SMARCA4_000020" "g.11170839T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11060163T>C" "" "VUS" "" "0000018837" "0" "55" "19" "11170839" "11170839" "subst" "0.262453" "00074" "SMARCA4_000020" "g.11170839T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.11060163T>C" "" "VUS" "" "0000018838" "0" "55" "19" "11097709" "11097709" "subst" "0.0147948" "00074" "SMARCA4_000021" "g.11097709C>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10987033C>T" "" "VUS" "" "0000018839" "0" "55" "19" "11097709" "11097709" "subst" "0.0147948" "00074" "SMARCA4_000021" "g.11097709C>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10987033C>T" "" "VUS" "" "0000018840" "0" "55" "19" "11098309" "11098309" "subst" "0.00450684" "00074" "SMARCA4_000022" "g.11098309A>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.10987633A>G" "" "VUS" "" "0000076949" "1" "35" "19" "11143984" "11143984" "subst" "0" "00004" "SMARCA4_000001" "g.11143984C>T" "" "{PMID:Scheppenheim 2010:20137775}" "" "p.Arg1189X" "" "Germline" "" "" "0" "" "" "g.11033308C>T" "" "likely benign" "" "0000076950" "11" "95" "19" "11143984" "11143984" "subst" "0" "00004" "SMARCA4_000001" "g.11143984C>T" "" "{PMID:Scheppenheim 2010:20137775}" "" "p.Arg1189X" "" "Germline" "" "" "0" "" "" "g.11033308C>T" "" "pathogenic" "" "0000076951" "11" "95" "19" "11143984" "11143984" "subst" "0" "00004" "SMARCA4_000001" "g.11143984C>T" "" "{PMID:Scheppenheim 2010:20137775}" "" "p.Arg1189X" "" "Germline" "" "" "0" "" "" "g.11033308C>T" "" "pathogenic" "" "0000076954" "0" "95" "19" "11094998" "11094998" "del" "0" "00004" "SMARCA4_000004" "g.11094998del" "" "{PMID:Medina 2008:18386774}" "" "NM_003072.2:c.169delC" "" "In vitro (cloned)" "" "" "0" "" "" "g.10984322del" "" "NA" "" "0000076978" "0" "90" "19" "11101952" "11101975" "del" "0" "01358" "SMARCA4_000048" "g.11101952_11101975del" "" "{PMID:Tsurusaki 2014:23815551}" "" "" "" "De novo" "" "" "0" "" "" "g.10991276_10991299del" "" "pathogenic (dominant)" "" "0000076980" "0" "90" "19" "11106931" "11106933" "del" "0" "01358" "SMARCA4_000046" "g.11106931_11106933del" "" "{PMID:Tsurusaki 2012:22426308}, {PMID:Tsurusaki 2014:23815551}" "" "1636_1638delAAG" "" "De novo" "yes" "" "0" "" "" "g.10996255_10996257del" "" "pathogenic (dominant)" "" "0000076981" "0" "90" "19" "11130337" "11130337" "subst" "0" "01358" "SMARCA4_000047" "g.11130337C>T" "" "{PMID:Tsurusaki 2012:22426308}, {PMID:Tsurusaki 2014:23815551}" "" "" "" "De novo" "yes" "" "0" "" "" "g.11019661C>T" "" "pathogenic (dominant)" "" "0000076982" "0" "90" "19" "11132437" "11132437" "subst" "0" "01358" "SMARCA4_000041" "g.11132437C>T" "" "{PMID:Tsurusaki 2012:22426308}, {PMID:Tsurusaki 2014:23815551}" "" "" "" "De novo" "" "" "0" "" "" "g.11021761C>T" "" "pathogenic (dominant)" "" "0000076983" "0" "90" "19" "11132438" "11132438" "subst" "0" "01358" "SMARCA4_000042" "g.11132438G>A" "" "{PMID:Tsurusaki 2014:23815551}" "" "" "" "De novo" "" "" "0" "" "" "g.11021762G>A" "" "pathogenic (dominant)" "" "0000076984" "0" "90" "19" "11132545" "11132545" "subst" "0" "01358" "SMARCA4_000043" "g.11132545C>T" "" "{PMID:Tsurusaki 2012:22426308}, {PMID:Tsurusaki 2014:23815551}" "" "" "" "De novo" "" "" "0" "" "" "g.11021869C>T" "" "pathogenic (dominant)" "" "0000076985" "0" "90" "19" "11135065" "11135065" "subst" "0" "01358" "SMARCA4_000044" "g.11135065T>C" "" "{PMID:Tsurusaki 2012:22426308}, {PMID:Tsurusaki 2014:23815551}" "" "" "" "De novo" "" "" "0" "" "" "g.11024389T>C" "" "pathogenic (dominant)" "" "0000076986" "0" "90" "19" "11141492" "11141492" "subst" "0" "01358" "SMARCA4_000045" "g.11141492C>G" "" "{PMID:Tsurusaki 2012:22426308}, {PMID:Tsurusaki 2014:23815551}" "" "" "" "De novo" "" "" "0" "" "" "g.11030816C>G" "" "pathogenic (dominant)" "" "0000076997" "0" "90" "19" "11136143" "11136143" "subst" "0" "01358" "SMARCA4_000033" "g.11136143C>T" "" "{PMID:Santen 2013:23929686}" "" "" "" "De novo" "yes" "" "" "" "" "g.11025467C>T" "" "pathogenic" "" "0000079331" "0" "90" "19" "11132405" "11132405" "subst" "0" "00006" "SMARCA4_000040" "g.11132405G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.11021729G>A" "" "pathogenic" "" "0000169394" "0" "70" "19" "11097098" "11097098" "subst" "0.00303334" "00587" "SMARCA4_000049" "g.11097098C>T" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_001128849.1(SMARCA4):c.589C>T p.(Pro197Ser)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.10986422C>T" "" "likely pathogenic" "" "0000249575" "0" "30" "19" "11151970" "11151970" "subst" "0.000342921" "02325" "SMARCA4_000036" "g.11151970A>G" "" "" "" "SMARCA4(NM_001128844.1):c.4171-13A>G (p.(=)), SMARCA4(NM_001128844.3):c.4171-13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11041294A>G" "" "likely benign" "" "0000250131" "0" "10" "19" "11105593" "11105593" "subst" "0.0249594" "02329" "SMARCA4_000027" "g.11105593A>G" "" "" "" "SMARCA4(NM_001128844.3):c.1509A>G (p.A503=), SMARCA4(NM_003072.5):c.1509A>G (p.(Ala503=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10994917A>G" "" "benign" "" "0000250240" "0" "10" "19" "11096851" "11096851" "subst" "0.0277298" "02329" "SMARCA4_000028" "g.11096851A>G" "" "" "" "SMARCA4(NM_001128844.1):c.356-14A>G (p.(=)), SMARCA4(NM_001128844.3):c.356-14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10986175A>G" "" "benign" "" "0000298386" "0" "30" "19" "11105489" "11105489" "del" "0" "02325" "SMARCA4_000057" "g.11105489del" "" "" "" "SMARCA4(NM_001128844.3):c.1420-15delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10994813del" "" "likely benign" "" "0000298387" "0" "10" "19" "11105608" "11105608" "subst" "0.327963" "02325" "SMARCA4_000038" "g.11105608T>C" "" "" "" "SMARCA4(NM_001128844.3):c.1524T>C (p.H508=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10994932T>C" "" "benign" "" "0000298388" "0" "30" "19" "11105691" "11105691" "subst" "0.000333989" "02325" "SMARCA4_000058" "g.11105691T>A" "" "" "" "SMARCA4(NM_001128844.1):c.1593+14T>A (p.(=)), SMARCA4(NM_001128844.3):c.1593+14T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10995015T>A" "" "likely benign" "" "0000298389" "0" "30" "19" "11095934" "11095934" "subst" "0" "02325" "SMARCA4_000051" "g.11095934T>C" "" "" "" "SMARCA4(NM_001128844.3):c.223-15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10985258T>C" "" "likely benign" "" "0000298390" "0" "30" "19" "11123738" "11123738" "subst" "0.0107178" "02325" "SMARCA4_000031" "g.11123738C>T" "" "" "" "SMARCA4(NM_001128844.1):c.2388C>T (p.(Leu796=)), SMARCA4(NM_001128844.3):c.2388C>T (p.L796=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11013062C>T" "" "likely benign" "" "0000298391" "0" "30" "19" "11132523" "11132523" "subst" "0.00017084" "02325" "SMARCA4_000060" "g.11132523G>A" "" "" "" "SMARCA4(NM_001128844.3):c.2739G>A (p.P913=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11021847G>A" "" "likely benign" "" "0000298392" "0" "30" "19" "11143977" "11143977" "subst" "0.000179586" "02325" "SMARCA4_000065" "g.11143977G>A" "" "" "" "SMARCA4(NM_001128844.3):c.3558G>A (p.A1186=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11033301G>A" "" "likely benign" "" "0000298393" "0" "10" "19" "11170839" "11170839" "subst" "0.262453" "02325" "SMARCA4_000020" "g.11170839T>C" "" "" "" "SMARCA4(NM_001128844.3):c.4887T>C (p.D1629=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11060163T>C" "" "benign" "" "0000299600" "0" "50" "19" "11094931" "11094931" "subst" "5.09217E-5" "02329" "SMARCA4_000050" "g.11094931C>T" "" "" "" "SMARCA4(NM_001128844.3):c.104C>T (p.S35L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10984255C>T" "" "VUS" "" "0000299601" "0" "10" "19" "11098596" "11098596" "subst" "0.00952772" "02329" "SMARCA4_000055" "g.11098596T>C" "" "" "" "SMARCA4(NM_001128844.1):c.1114T>C (p.(Tyr372His)), SMARCA4(NM_001128844.3):c.1114T>C (p.Y372H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10987920T>C" "" "benign" "" "0000299602" "0" "10" "19" "11101993" "11101993" "subst" "0.0255521" "02329" "SMARCA4_000024" "g.11101993G>A" "" "" "" "SMARCA4(NM_001128844.3):c.1413G>A (p.K471=), SMARCA4(NM_003072.5):c.1413G>A (p.(Lys471=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10991317G>A" "" "benign" "" "0000299603" "0" "30" "19" "11105691" "11105691" "subst" "0.000333989" "02329" "SMARCA4_000058" "g.11105691T>A" "" "" "" "SMARCA4(NM_001128844.1):c.1593+14T>A (p.(=)), SMARCA4(NM_001128844.3):c.1593+14T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10995015T>A" "" "likely benign" "" "0000299604" "0" "10" "19" "11118711" "11118711" "subst" "0.0246915" "02329" "SMARCA4_000030" "g.11118711C>T" "" "" "" "SMARCA4(NM_001128844.1):c.2123+12delinsT (p.(=)), SMARCA4(NM_001128844.3):c.2123+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11008035C>T" "" "benign" "" "0000299605" "0" "10" "19" "11123738" "11123738" "subst" "0.0107178" "02329" "SMARCA4_000031" "g.11123738C>T" "" "" "" "SMARCA4(NM_001128844.1):c.2388C>T (p.(Leu796=)), SMARCA4(NM_001128844.3):c.2388C>T (p.L796=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11013062C>T" "" "benign" "" "0000299606" "0" "30" "19" "11135078" "11135078" "subst" "0.001447" "02329" "SMARCA4_000061" "g.11135078C>T" "" "" "" "SMARCA4(NM_001128844.1):c.3045C>T (p.G1015=), SMARCA4(NM_001128844.3):c.3045C>T (p.G1015=), SMARCA4(NM_003072.5):c.3045C>T (p.(Gly1015=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11024402C>T" "" "likely benign" "" "0000299607" "0" "30" "19" "11141458" "11141458" "subst" "0.000248444" "02329" "SMARCA4_000063" "g.11141458C>T" "" "" "" "SMARCA4(NM_001128844.1):c.3435C>T (p.P1145=), SMARCA4(NM_001128844.3):c.3435C>T (p.P1145=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11030782C>T" "" "likely benign" "" "0000299608" "0" "10" "19" "11143955" "11143955" "subst" "0.00814714" "02329" "SMARCA4_000064" "g.11143955T>C" "" "" "" "SMARCA4(NM_001128844.3):c.3547-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11033279T>C" "" "benign" "" "0000299609" "0" "30" "19" "11144459" "11144459" "subst" "6.2136E-5" "02329" "SMARCA4_000066" "g.11144459C>T" "" "" "" "SMARCA4(NM_001128844.3):c.3791C>T (p.T1264M), SMARCA4(NM_003072.3):c.3791C>T (p.(Thr1264Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11033783C>T" "" "likely benign" "" "0000299610" "0" "10" "19" "11170576" "11170576" "subst" "0.00868651" "02329" "SMARCA4_000068" "g.11170576G>C" "" "" "" "SMARCA4(NM_001128844.1):c.4768+15G>C (p.(=)), SMARCA4(NM_001128844.3):c.4768+15G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11059900G>C" "" "benign" "" "0000299611" "0" "30" "19" "11170577" "11170577" "subst" "0.00163536" "02329" "SMARCA4_000069" "g.11170577G>T" "" "" "" "SMARCA4(NM_001128844.3):c.4768+16G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11059901G>T" "" "likely benign" "" "0000299612" "0" "30" "19" "11097098" "11097098" "subst" "0.00303334" "02329" "SMARCA4_000049" "g.11097098C>T" "" "" "" "SMARCA4(NM_001128844.3):c.589C>T (p.P197S), SMARCA4(NM_003072.5):c.589C>T (p.(Pro197Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10986422C>T" "" "likely benign" "" "0000299613" "0" "10" "19" "11098397" "11098397" "subst" "0.00316836" "02329" "SMARCA4_000054" "g.11098397G>A" "" "" "" "SMARCA4(NM_001128844.3):c.915G>A (p.P305=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10987721G>A" "" "benign" "" "0000308589" "0" "10" "19" "11102006" "11102006" "subst" "0.00240018" "01943" "SMARCA4_000056" "g.11102006T>C" "" "" "" "SMARCA4(NM_001128844.1):c.1419+7T>C, SMARCA4(NM_001128844.3):c.1419+7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10991330T>C" "" "benign" "" "0000308590" "0" "30" "19" "11102008" "11102008" "subst" "0.000981062" "01943" "SMARCA4_000026" "g.11102008C>T" "" "" "" "SMARCA4(NM_001128844.1):c.1419+9C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10991332C>T" "" "likely benign" "" "0000308591" "0" "30" "19" "11123615" "11123615" "subst" "0.000190913" "01943" "SMARCA4_000059" "g.11123615G>A" "" "" "" "SMARCA4(NM_001128844.1):c.2275-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11012939G>A" "" "likely benign" "" "0000308592" "0" "30" "19" "11136166" "11136166" "subst" "4.06914E-5" "01943" "SMARCA4_000062" "g.11136166C>T" "" "" "" "SMARCA4(NM_001128844.1):c.3150C>T (p.Y1050=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11025490C>T" "" "likely benign" "" "0000308593" "0" "30" "19" "11141458" "11141458" "subst" "0.000248444" "01943" "SMARCA4_000063" "g.11141458C>T" "" "" "" "SMARCA4(NM_001128844.1):c.3435C>T (p.P1145=), SMARCA4(NM_001128844.3):c.3435C>T (p.P1145=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11030782C>T" "" "likely benign" "" "0000308594" "0" "50" "19" "11097617" "11097617" "subst" "3.28149E-5" "01943" "SMARCA4_000053" "g.11097617C>T" "" "" "" "SMARCA4(NM_001128844.1):c.797C>T (p.S266L), SMARCA4(NM_003072.5):c.797C>T (p.(Ser266Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10986941C>T" "" "VUS" "" "0000326173" "0" "50" "19" "11096020" "11096020" "subst" "4.06303E-6" "01804" "SMARCA4_000052" "g.11096020G>T" "" "" "" "SMARCA4(NM_001128844.1):c.294G>T (p.M98I, p.(Met98Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10985344G>T" "" "VUS" "" "0000326174" "0" "50" "19" "11152157" "11152157" "subst" "0" "01804" "SMARCA4_000067" "g.11152157G>A" "" "" "" "SMARCA4(NM_001128844.1):c.4345G>A (p.(Glu1449Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11041481G>A" "" "VUS" "" "0000339129" "0" "50" "19" "11095961" "11095961" "subst" "2.03102E-5" "02327" "SMARCA4_000070" "g.11095961A>G" "" "" "" "SMARCA4(NM_003072.3):c.235A>G (p.(Met79Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10985285A>G" "" "VUS" "" "0000339283" "0" "10" "19" "11105608" "11105608" "subst" "0.327963" "02327" "SMARCA4_000038" "g.11105608T>C" "" "" "" "SMARCA4(NM_001128844.3):c.1524T>C (p.H508=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10994932T>C" "" "benign" "" "0000339285" "0" "10" "19" "11170839" "11170839" "subst" "0.262453" "02327" "SMARCA4_000020" "g.11170839T>C" "" "" "" "SMARCA4(NM_001128844.3):c.4887T>C (p.D1629=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11060163T>C" "" "benign" "" "0000342928" "0" "70" "19" "11101931" "11101931" "subst" "0" "02327" "SMARCA4_000072" "g.11101931C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10991255C>T" "" "likely pathogenic" "" "0000343087" "0" "70" "19" "11106940" "11106940" "subst" "0" "02327" "SMARCA4_000073" "g.11106940C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10996264C>T" "" "likely pathogenic" "" "0000343890" "0" "50" "19" "11141529" "11141529" "subst" "0" "02327" "SMARCA4_000077" "g.11141529A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11030853A>G" "" "VUS" "" "0000345930" "0" "50" "19" "11097620" "11097620" "subst" "0" "02327" "SMARCA4_000071" "g.11097620G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10986944G>T" "" "VUS" "" "0000346849" "0" "70" "19" "11138567" "11138567" "subst" "0" "02327" "SMARCA4_000076" "g.11138567T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11027891T>C" "" "likely pathogenic" "" "0000351724" "1" "30" "19" "11143984" "11143984" "subst" "0" "00006" "SMARCA4_000001" "g.11143984C>T" "" "{PMID:Scheppenheim 2010:20137775}" "" "Arg1189X" "" "Unknown" "" "" "0" "" "" "g.11033308C>T" "" "likely benign" "" "0000351725" "11" "90" "19" "11143984" "11143984" "subst" "0" "00006" "SMARCA4_000001" "g.11143984C>T" "" "{PMID:Scheppenheim 2010:20137775}" "" "Arg1189X" "UPD in Tumor" "Somatic" "" "" "0" "" "" "g.11033308C>T" "" "pathogenic" "" "0000351726" "11" "90" "19" "11143984" "11143984" "subst" "0" "00006" "SMARCA4_000001" "g.11143984C>T" "" "{PMID:Scheppenheim 2010:20137775}" "" "Arg1189X" "UPD in Tumor" "Somatic" "" "" "0" "" "" "g.11033308C>T" "" "pathogenic" "" "0000351727" "0" "90" "19" "11094998" "11094998" "del" "0" "00006" "SMARCA4_000004" "g.11094998del" "" "{PMID:Medina 2008:18386774}" "" "NM_003072.2:c.169delC" "" "Somatic" "" "" "0" "" "" "g.10984322del" "" "pathogenic" "" "0000351728" "0" "90" "19" "11097629" "11097630" "del" "0" "00006" "SMARCA4_000008" "g.11097629_11097630del" "" "{PMID:Medina 2008:18386774}, {PMID:Medina 2005:15731117}" "" "NM_003072.2:c.805_806delCC" "" "Somatic" "" "" "0" "" "" "g.10986953_10986954del" "" "pathogenic" "" "0000351729" "0" "90" "19" "11106974" "11107058" "del" "0" "00006" "SMARCA4_000003" "g.11106974_11107058del" "" "{PMID:Medina 2008:18386774}, {PMID:Medina 2005:15731117}" "" "NM_003072.2:c.1677_1761del85" "" "Somatic" "" "" "0" "" "" "g.10996298_10996382del" "" "pathogenic" "" "0000351730" "0" "90" "19" "11118576" "11118576" "subst" "0" "00006" "SMARCA4_000005" "g.11118576A>G" "" "{PMID:Medina 2008:18386774}" "" "NM_003072.2:c.2002-2A>G" "" "Somatic" "" "" "0" "" "" "g.11007900A>G" "" "pathogenic" "" "0000351731" "0" "90" "19" "11121117" "11121139" "del" "0" "00006" "SMARCA4_000002" "g.11121117_11121139del" "" "{PMID:Medina 2008:18386774}, {PMID:Medina 2005:15731117}" "" "NM_003072.2:c.2184_2206del23" "" "Somatic" "" "" "0" "" "" "g.11010441_11010463del" "" "pathogenic" "" "0000351732" "0" "90" "19" "11123640" "11123640" "subst" "0" "00006" "SMARCA4_000007" "g.11123640T>A" "" "{PMID:Medina 2008:18386774}, {PMID:Medina 2005:15731117}" "" "NM_003072.2:c.2290T>A" "" "Somatic" "" "" "0" "" "" "g.11012964T>A" "" "pathogenic" "" "0000351733" "0" "90" "19" "11132584" "11132584" "subst" "0" "00006" "SMARCA4_000010" "g.11132584A>T" "" "{PMID:Medina 2008:18386774}" "" "NM_003072.2:c.2800A>T" "" "Somatic" "" "" "0" "" "" "g.11021908A>T" "" "pathogenic" "" "0000351734" "0" "90" "19" "11138498" "11138514" "del" "0" "00006" "SMARCA4_000006" "g.11138498_11138514del" "" "{PMID:Medina 2008:18386774}, {PMID:Medina 2005:15731117}" "" "NM_003072.2:c.3254_3270del16" "" "Somatic" "" "" "0" "" "" "g.11027822_11027838del" "" "pathogenic" "" "0000351735" "0" "90" "19" "11141501" "11141501" "subst" "0" "00006" "SMARCA4_000011" "g.11141501G>C" "" "{PMID:Medina 2004:15287030}" "" "" "primary tumor" "Somatic" "" "" "0" "" "" "g.11030825G>C" "" "pathogenic" "" "0000351736" "0" "90" "19" "11141503" "11141503" "del" "0" "00006" "SMARCA4_000009" "g.11141503del" "" "{PMID:Medina 2008:18386774}" "" "NM_003072.2:c.3476delG" "" "Somatic" "" "" "0" "" "" "g.11030827del" "" "pathogenic" "" "0000394676" "3" "50" "19" "11123685" "11123685" "subst" "0" "00008" "SMARCA4_000085" "g.11123685G>A" "" "{PMID:Hasselblatt 2014:25060813}" "" "" "Refseq reported: SRS429514, SRS431657" "Germline" "" "" "0" "" "" "g.11013009G>A" "" "VUS" "" "0000394703" "1" "50" "19" "11141430" "11141430" "del" "0" "00008" "SMARCA4_000096" "g.11141430del" "" "{PMID:Hasselblatt 2014:25060813}" "" "" "Refseq reported: SRS429514, SRS431657" "Germline" "" "" "0" "" "" "g.11030754del" "" "VUS" "" "0000394714" "1" "50" "19" "11141556" "11141556" "subst" "0" "00008" "SMARCA4_000098" "g.11141556G>A" "" "{PMID:Hasselblatt 2014: PMID 25060813}, {PMID:Witkowski L logy, PMID 23775540}," "" "" "Refseq reported: SRS429514, SRS431657" "Germline" "" "" "0" "" "" "g.11030880G>A" "" "VUS" "" "0000394725" "1" "50" "19" "11143984" "11143984" "subst" "0" "00008" "SMARCA4_000001" "g.11143984C>T" "" "{PMID:Hasselblatt 2014: PMID 25060813}, {PMID:Schneppenheim R 2010, PMID 20137775}," "" "" "Refseq reported: SRS429514, SRS431657" "Unknown" "" "" "0" "" "" "g.11033308C>T" "" "VUS" "" "0000394736" "1" "50" "19" "11145677" "11145714" "del" "0" "00008" "SMARCA4_000101" "g.11145677_11145714del" "" "{PMID:Hasselblatt 2014:25060813}" "" "" "Refseq reported: SRS429514, SRS431657" "Germline" "" "" "0" "" "" "g.11035001_11035038del" "" "VUS" "" "0000394747" "1" "50" "19" "11129685" "11129699" "del" "0" "00008" "SMARCA4_000087" "g.11129685_11129699del" "" "{PMID:Hasselblatt 2014:25060813}" "" "" "Refseq reported: SRS429514, SRS431657" "Unknown" "" "" "0" "" "" "g.11019009_11019023del" "" "VUS" "" "0000394855" "1" "50" "19" "11141556" "11141556" "subst" "0" "00008" "SMARCA4_000098" "g.11141556G>A" "" "{PMID:Hasselblatt 2014:25060813}" "" "" "Refseq reported: SRS429514, SRS431657" "De novo" "" "" "0" "" "" "g.11030880G>A" "" "VUS" "" "0000394937" "1" "50" "19" "11141430" "11141430" "del" "0" "00008" "SMARCA4_000096" "g.11141430del" "" "{PMID:Hasselblatt 2014:25060813}" "" "" "Refseq reported: SRS429514, SRS431657" "Unknown" "" "" "0" "" "" "g.11030754del" "" "VUS" "" "0000394938" "1" "50" "19" "11144179" "11144179" "subst" "0" "00008" "SMARCA4_000100" "g.11144179G>T" "" "{PMID:Moes-Sosnowska J 2015:25886974}" "" "" "Refseq reported: SRS429514, SRS431657" "Germline" "" "" "0" "" "" "g.11033503G>T" "" "VUS" "" "0000394939" "1" "50" "19" "11144179" "11144179" "subst" "0" "00008" "SMARCA4_000100" "g.11144179G>T" "" "{PMID:Moes-Sosnowska J 2015:25886974}" "" "" "Refseq reported: SRS429514, SRS431657" "Unknown" "" "" "0" "" "" "g.11033503G>T" "" "VUS" "" "0000394940" "1" "50" "19" "11143984" "11143984" "subst" "0" "00008" "SMARCA4_000001" "g.11143984C>T" "" "{PMID:Hasselblatt 2014: PMID 25060813}, {PMID:Schneppenheim R 2010, PMID 20137775}," "" "" "Refseq reported: SRS429514, SRS431657" "Unknown" "" "" "0" "" "" "g.11033308C>T" "" "VUS" "" "0000394941" "1" "50" "19" "11132644" "11132644" "subst" "0" "00008" "SMARCA4_000089" "g.11132644G>C" "" "{PMID:Witkowski L 2016:27866340}" "" "" "Refseq reported: SRS429514, SRS431657" "Germline" "" "" "0" "" "" "g.11021968G>C" "" "VUS" "" "0000394942" "1" "50" "19" "11132644" "11132644" "subst" "0" "00008" "SMARCA4_000089" "g.11132644G>C" "" "{PMID:Witkowski L 2016:27866340}" "" "" "Refseq reported: SRS429514, SRS431657" "Germline" "" "" "0" "" "" "g.11021968G>C" "" "VUS" "" "0000394948" "3" "50" "19" "11123685" "11123685" "subst" "0" "00008" "SMARCA4_000085" "g.11123685G>A" "" "{PMID:Hasselblatt 2014:25060813}" "" "" "Refseq reported: SRS429514, SRS431657" "Unknown" "" "" "0" "" "" "g.11013009G>A" "" "VUS" "" "0000394959" "1" "50" "19" "11145677" "11145714" "del" "0" "00008" "SMARCA4_000101" "g.11145677_11145714del" "" "{PMID:Hasselblatt 2014:25060813}" "" "" "Refseq reported: SRS429514, SRS431657" "Germline" "" "" "0" "" "" "g.11035001_11035038del" "" "VUS" "" "0000394969" "1" "50" "19" "11145677" "11145714" "del" "0" "00008" "SMARCA4_000101" "g.11145677_11145714del" "" "{PMID:Hasselblatt 2014:25060813}" "" "" "Refseq reported: SRS429514, SRS431657" "Germline" "" "" "0" "" "" "g.11035001_11035038del" "" "VUS" "" "0000394970" "1" "50" "19" "11145677" "11145714" "del" "0" "00008" "SMARCA4_000101" "g.11145677_11145714del" "" "{PMID:Hasselblatt 2014:25060813}" "" "" "Refseq reported: SRS429514, SRS431657" "Unknown" "" "" "0" "" "" "g.11035001_11035038del" "" "VUS" "" "0000394971" "1" "50" "19" "11144179" "11144179" "subst" "0" "00008" "SMARCA4_000100" "g.11144179G>T" "" "{PMID:Moes-Sosnowska J 2015:25886974}" "" "" "Refseq reported: SRS429514, SRS431657" "Germline" "" "" "0" "" "" "g.11033503G>T" "" "VUS" "" "0000394972" "1" "50" "19" "11144179" "11144179" "subst" "0" "00008" "SMARCA4_000100" "g.11144179G>T" "" "{PMID:Moes-Sosnowska J 2015:25886974}" "" "" "Refseq reported: SRS429514, SRS431657" "Germline" "" "" "0" "" "" "g.11033503G>T" "" "VUS" "" "0000394973" "1" "50" "19" "11144179" "11144179" "subst" "0" "00008" "SMARCA4_000100" "g.11144179G>T" "" "{PMID:Moes-Sosnowska J 2015:25886974}" "" "" "Refseq reported: SRS429514, SRS431657" "Germline" "" "" "0" "" "" "g.11033503G>T" "" "VUS" "" "0000394974" "1" "50" "19" "11144179" "11144179" "subst" "0" "00008" "SMARCA4_000100" "g.11144179G>T" "" "{PMID:Moes-Sosnowska J 2015:25886974}" "" "" "Refseq reported: SRS429514, SRS431657" "Germline" "" "" "0" "" "" "g.11033503G>T" "" "VUS" "" "0000395005" "1" "50" "19" "11143984" "11143984" "subst" "0" "00008" "SMARCA4_000001" "g.11143984C>T" "" "{PMID:Hasselblatt 2014: PMID 25060813}, {PMID:Schneppenheim R 2010, PMID 20137775}," "" "" "Refseq reported: SRS429514, SRS431657" "Unknown" "" "" "0" "" "" "g.11033308C>T" "" "VUS" "" "0000395017" "1" "50" "19" "11144179" "11144179" "subst" "0" "00008" "SMARCA4_000100" "g.11144179G>T" "" "{PMID:Moes-Sosnowska J 2015:25886974}" "" "" "Refseq reported: SRS429514, SRS431657" "Germline" "" "" "0" "" "" "g.11033503G>T" "" "VUS" "" "0000395018" "1" "50" "19" "11096027" "11096028" "del" "0" "00008" "SMARCA4_000079" "g.11096027_11096028delAG" "" "{PMID:Lavrut PM 2016:26230154}" "" "AG not found at position 661_662, found GG instead." "Refseq reported: SRS429514, SRS431657\r\nVariant Error [EREF/ESYNTAX]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000395019" "1" "50" "19" "11106936" "11106936" "del" "0" "00008" "SMARCA4_000084" "g.11106936del" "" "{PMID:Rabinovich A 2015:26076162}" "" "" "Refseq reported: SRS429514, SRS431657" "Unknown" "" "" "0" "" "" "g.10996260del" "" "VUS" "" "0000395020" "1" "50" "19" "11138521" "11138521" "subst" "0" "00008" "SMARCA4_000095" "g.11138521C>T" "" "{PMID:Witkowski L 2016:26975901}" "" "" "Refseq reported: SRS429514, SRS431657" "Unknown" "" "" "0" "" "" "g.11027845C>T" "" "VUS" "" "0000395021" "1" "50" "19" "11138473" "11138473" "subst" "0" "00008" "SMARCA4_000093" "g.11138473C>T" "" "{PMID:Witkowski L 2016:26975901}" "" "" "Refseq reported: SRS429514, SRS431657" "Unknown" "" "" "0" "" "" "g.11027797C>T" "" "VUS" "" "0000395022" "1" "50" "19" "11145809" "11145809" "subst" "0" "00008" "SMARCA4_000102" "g.11145809G>A" "" "{PMID:Witkowski L 2014:24658002}" "" "" "" "Unknown" "" "" "0" "" "" "g.11035133G>A" "" "VUS" "" "0000395023" "21" "50" "19" "11145809" "11145809" "subst" "0" "00008" "SMARCA4_000102" "g.11145809G>A" "" "{PMID:Witkowski L 2014:24658002}" "" "" "" "Germline" "" "" "0" "" "" "g.11035133G>A" "" "VUS" "" "0000395024" "1" "50" "19" "11097152" "11097152" "subst" "0" "00008" "SMARCA4_000080" "g.11097152C>T" "" "{PMID:Witkowski L 2014:24658002}" "" "" "" "Germline" "" "" "0" "" "" "g.10986476C>T" "" "VUS" "" "0000395025" "1" "50" "19" "11097152" "11097152" "subst" "0" "00008" "SMARCA4_000080" "g.11097152C>T" "" "{PMID:Witkowski L 2014:24658002}" "" "" "" "Germline" "" "" "0" "" "" "g.10986476C>T" "" "VUS" "" "0000395026" "1" "50" "19" "11132398" "11132398" "subst" "0" "00008" "SMARCA4_000088" "g.11132398C>G" "" "{PMID:Witkowski L 2014:24658002}" "" "" "" "Germline" "" "" "0" "" "" "g.11021722C>G" "" "VUS" "" "0000395027" "1" "50" "19" "11138483" "11138483" "subst" "0" "00008" "SMARCA4_000094" "g.11138483G>A" "" "{PMID:Witkowski L 2014:24658002}" "" "" "" "Unknown" "" "" "0" "" "" "g.11027807G>A" "" "VUS" "" "0000395028" "21" "50" "19" "11095002" "11095002" "subst" "0" "00008" "SMARCA4_000078" "g.11095002C>T" "" "{PMID:Witkowski L 2016:27866340}" "" "" "Refseq reported: SRS429514, SRS431657" "Germline" "" "" "0" "" "" "g.10984326C>T" "" "VUS" "" "0000395029" "11" "50" "19" "11132644" "11132644" "subst" "0" "00008" "SMARCA4_000089" "g.11132644G>C" "" "{PMID:Witkowski L 2016:26975901}" "" "" "Refseq reported: SRS429514, SRS431657" "Germline" "" "" "0" "" "" "g.11021968G>C" "" "VUS" "" "0000395030" "11" "50" "19" "11132644" "11132644" "subst" "0" "00008" "SMARCA4_000089" "g.11132644G>C" "" "{PMID:Witkowski L 2016:26975901}" "" "" "Refseq reported: SRS429514, SRS431657" "Germline" "" "" "0" "" "" "g.11021968G>C" "" "VUS" "" "0000395031" "1" "50" "19" "11100098" "11100100" "delins" "0" "00008" "SMARCA4_000083" "g.11100098_11100100delinsAG" "" "{PMID:Witkowski L 2014:24658002}" "" "" "" "Unknown" "" "" "0" "" "" "g.10989422_10989424delinsAG" "" "VUS" "" "0000395032" "1" "50" "19" "11144057" "11144057" "del" "0" "00008" "SMARCA4_000099" "g.11144057del" "" "{PMID:Witkowski L 2014:24658002}" "" "" "" "Unknown" "" "" "0" "" "" "g.11033381del" "" "VUS" "" "0000395033" "1" "50" "19" "11141503" "11141503" "dup" "0" "00008" "SMARCA4_000097" "g.11141503dup" "" "{PMID:Witkowski L 2014:24658002}" "" "" "" "Unknown" "" "" "0" "" "" "g.11030827dup" "" "VUS" "" "0000395034" "1" "50" "19" "11134266" "11134266" "subst" "0" "00008" "SMARCA4_000090" "g.11134266C>T" "" "{PMID:Witkowski L 2014:24658002}" "" "" "" "Unknown" "" "" "0" "" "" "g.11023590C>T" "" "VUS" "" "0000395035" "1" "50" "19" "11100015" "11100015" "subst" "0" "00008" "SMARCA4_000082" "g.11100015C>T" "" "{PMID:Witkowski L 2014:24658002}" "" "" "" "Unknown" "" "" "0" "" "" "g.10989339C>T" "" "VUS" "" "0000395036" "1" "50" "19" "11095002" "11095002" "subst" "0" "00008" "SMARCA4_000078" "g.11095002C>T" "" "{PMID:Witkowski L 2016:27866340}" "" "" "Refseq reported: SRS429514, SRS431657" "Unknown" "" "" "0" "" "" "g.10984326C>T" "" "VUS" "" "0000395037" "1" "50" "19" "11132644" "11132644" "subst" "0" "00008" "SMARCA4_000089" "g.11132644G>C" "" "{PMID:Witkowski L 2016:27866340}" "" "" "Refseq reported: SRS429514, SRS431657" "Germline" "" "" "0" "" "" "g.11021968G>C" "" "VUS" "" "0000395038" "1" "50" "19" "11132644" "11132644" "subst" "0" "00008" "SMARCA4_000089" "g.11132644G>C" "" "{PMID:Witkowski L 2016:27866340}" "" "" "Refseq reported: SRS429514, SRS431657" "Germline" "" "" "0" "" "" "g.11021968G>C" "" "VUS" "" "0000395039" "1" "50" "19" "11123702" "11123702" "dup" "0" "00008" "SMARCA4_000086" "g.11123702dup" "" "{PMID:Moes-Sosnowska J 2015:25886974}" "" "" "Refseq reported: SRS429514, SRS431657" "Unknown" "" "" "0" "" "" "g.11013026dup" "" "VUS" "" "0000395040" "1" "50" "19" "11134269" "11134269" "subst" "0" "00008" "SMARCA4_000091" "g.11134269C>T" "" "{PMID:Ramos P 2014:24658001}" "" "" "Refseq reported: SRS429514, SRS431657" "Unknown" "" "" "0" "" "" "g.11023593C>T" "" "VUS" "" "0000395041" "1" "50" "19" "11097231" "11097244" "del" "0" "00008" "SMARCA4_000081" "g.11097231_11097244del" "" "{PMID:Ramos P 2014:24658001}" "" "" "Refseq reported: SRS429514, SRS431657" "Unknown" "" "" "0" "" "" "g.10986555_10986568del" "" "VUS" "" "0000395042" "1" "50" "19" "11135046" "11135046" "subst" "0" "00008" "SMARCA4_000092" "g.11135046C>T" "" "{PMID:Jelinic P 2014:24658004}" "" "" "Refseq reported: SRS429514, SRS431657" "Unknown" "" "" "0" "" "" "g.11024370C>T" "" "VUS" "" "0000565628" "0" "50" "19" "11094942" "11094942" "subst" "8.52101E-5" "01943" "SMARCA4_000103" "g.11094942G>A" "" "" "" "SMARCA4(NM_001128844.1):c.115G>A (p.A39T), SMARCA4(NM_003072.5):c.115G>A (p.(Ala39Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10984266G>A" "" "VUS" "" "0000565629" "0" "30" "19" "11096020" "11096020" "subst" "4.06303E-6" "01943" "SMARCA4_000052" "g.11096020G>T" "" "" "" "SMARCA4(NM_001128844.1):c.294G>T (p.M98I, p.(Met98Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10985344G>T" "" "likely benign" "" "0000565630" "0" "30" "19" "11096932" "11096932" "subst" "4.1136E-6" "01943" "SMARCA4_000104" "g.11096932G>A" "" "" "" "SMARCA4(NM_001128844.1):c.423G>A (p.S141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10986256G>A" "" "likely benign" "" "0000565631" "0" "30" "19" "11097578" "11097578" "subst" "0" "01943" "SMARCA4_000105" "g.11097578T>C" "" "" "" "SMARCA4(NM_001128844.1):c.761-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10986902T>C" "" "likely benign" "" "0000565632" "0" "10" "19" "11097686" "11097686" "subst" "0.00373304" "01943" "SMARCA4_000106" "g.11097686T>A" "" "" "" "SMARCA4(NM_001128844.1):c.859+7T>A (p.(=)), SMARCA4(NM_001128844.3):c.859+7T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10987010T>A" "" "benign" "" "0000565633" "0" "30" "19" "11097686" "11097686" "subst" "0.00373304" "01804" "SMARCA4_000106" "g.11097686T>A" "" "" "" "SMARCA4(NM_001128844.1):c.859+7T>A (p.(=)), SMARCA4(NM_001128844.3):c.859+7T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10987010T>A" "" "likely benign" "" "0000565634" "0" "50" "19" "11098354" "11098354" "subst" "1.26649E-5" "01943" "SMARCA4_000107" "g.11098354A>T" "" "" "" "SMARCA4(NM_001128844.1):c.872A>T (p.N291I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10987678A>T" "" "VUS" "" "0000565635" "0" "10" "19" "11098412" "11098412" "subst" "0.00186091" "01943" "SMARCA4_000108" "g.11098412C>A" "" "" "" "SMARCA4(NM_001128844.1):c.930C>A (p.R310=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10987736C>A" "" "benign" "" "0000565636" "0" "30" "19" "11098463" "11098463" "subst" "0.00302148" "01943" "SMARCA4_000109" "g.11098463A>C" "" "" "" "SMARCA4(NM_001128844.1):c.981A>C (p.P327=), SMARCA4(NM_001128844.3):c.981A>C (p.P327=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10987787A>C" "" "likely benign" "" "0000565637" "0" "50" "19" "11098489" "11098489" "subst" "1.83692E-5" "02327" "SMARCA4_000110" "g.11098489C>T" "" "" "" "SMARCA4(NM_001128849.3):c.1007C>T (p.P336L), SMARCA4(NM_003072.3):c.1007C>T (p.(Pro336Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10987813C>T" "" "VUS" "" "0000565639" "0" "30" "19" "11098596" "11098596" "subst" "0.00952772" "01804" "SMARCA4_000055" "g.11098596T>C" "" "" "" "SMARCA4(NM_001128844.1):c.1114T>C (p.(Tyr372His)), SMARCA4(NM_001128844.3):c.1114T>C (p.Y372H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10987920T>C" "" "likely benign" "" "0000565640" "0" "30" "19" "11102003" "11102003" "subst" "7.81796E-5" "01943" "SMARCA4_000112" "g.11102003C>T" "" "" "" "SMARCA4(NM_001128844.1):c.1419+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10991327C>T" "" "likely benign" "" "0000565641" "0" "30" "19" "11102007" "11102007" "subst" "0.00289631" "01804" "SMARCA4_000025" "g.11102007C>T" "" "" "" "SMARCA4(NM_001128844.1):c.1419+8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10991331C>T" "" "likely benign" "" "0000565642" "0" "10" "19" "11106600" "11106600" "subst" "0" "02325" "SMARCA4_000113" "g.11106600C>T" "" "" "" "SMARCA4(NM_001128844.3):c.1594-289C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10995924C>T" "" "benign" "" "0000565643" "0" "50" "19" "11106941" "11106941" "subst" "0" "01943" "SMARCA4_000114" "g.11106941G>T" "" "" "" "SMARCA4(NM_001128844.1):c.1646G>T (p.R549L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10996265G>T" "" "VUS" "" "0000565644" "0" "50" "19" "11118597" "11118597" "subst" "4.06507E-5" "01804" "SMARCA4_000115" "g.11118597C>T" "" "" "" "SMARCA4(NM_001128844.1):c.2021C>T (p.(Pro674Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11007921C>T" "" "VUS" "" "0000565645" "0" "30" "19" "11123622" "11123622" "subst" "0.00260728" "01943" "SMARCA4_000116" "g.11123622C>A" "" "" "" "SMARCA4(NM_001128844.1):c.2275-3C>A, SMARCA4(NM_001128844.3):c.2275-3C>A, SMARCA4(NM_003072.3):c.2275-3C>A (p.?), SMARCA4(NM_003072.4):c.2275-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11012946C>A" "" "likely benign" "" "0000565646" "0" "30" "19" "11123622" "11123622" "subst" "0.00260728" "01804" "SMARCA4_000116" "g.11123622C>A" "" "" "" "SMARCA4(NM_001128844.1):c.2275-3C>A, SMARCA4(NM_001128844.3):c.2275-3C>A, SMARCA4(NM_003072.3):c.2275-3C>A (p.?), SMARCA4(NM_003072.4):c.2275-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11012946C>A" "" "likely benign" "" "0000565647" "0" "30" "19" "11123622" "11123622" "subst" "0.00260728" "02325" "SMARCA4_000116" "g.11123622C>A" "" "" "" "SMARCA4(NM_001128844.1):c.2275-3C>A, SMARCA4(NM_001128844.3):c.2275-3C>A, SMARCA4(NM_003072.3):c.2275-3C>A (p.?), SMARCA4(NM_003072.4):c.2275-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11012946C>A" "" "likely benign" "" "0000565648" "0" "70" "19" "11134266" "11134266" "subst" "0" "02329" "SMARCA4_000090" "g.11134266C>T" "" "" "" "SMARCA4(NM_001128844.3):c.2932C>T (p.R978*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11023590C>T" "" "likely pathogenic" "" "0000565650" "0" "30" "19" "11135078" "11135078" "subst" "0.001447" "01943" "SMARCA4_000061" "g.11135078C>T" "" "" "" "SMARCA4(NM_001128844.1):c.3045C>T (p.G1015=), SMARCA4(NM_001128844.3):c.3045C>T (p.G1015=), SMARCA4(NM_003072.5):c.3045C>T (p.(Gly1015=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11024402C>T" "" "likely benign" "" "0000565653" "0" "70" "19" "11144131" "11144131" "subst" "0" "02325" "SMARCA4_000118" "g.11144131T>A" "" "" "" "SMARCA4(NM_001128844.3):c.3712T>A (p.S1238T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11033455T>A" "" "likely pathogenic" "" "0000565654" "0" "30" "19" "11144184" "11144184" "subst" "0.000105832" "01943" "SMARCA4_000119" "g.11144184G>A" "" "" "" "SMARCA4(NM_001128844.1):c.3765G>A (p.E1255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11033508G>A" "" "likely benign" "" "0000565655" "0" "30" "19" "11144883" "11144883" "subst" "5.28911E-5" "01804" "SMARCA4_000120" "g.11144883G>A" "" "" "" "SMARCA4(NM_001128844.1):c.3951+7G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11034207G>A" "" "likely benign" "" "0000565656" "0" "30" "19" "11145825" "11145825" "subst" "0.00341508" "02325" "SMARCA4_000121" "g.11145825C>T" "" "" "" "SMARCA4(NM_001128844.1):c.4170+17C>T (p.(=)), SMARCA4(NM_001128844.3):c.4170+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11035149C>T" "" "likely benign" "" "0000565657" "0" "30" "19" "11145825" "11145825" "subst" "0.00341508" "02329" "SMARCA4_000121" "g.11145825C>T" "" "" "" "SMARCA4(NM_001128844.1):c.4170+17C>T (p.(=)), SMARCA4(NM_001128844.3):c.4170+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11035149C>T" "" "likely benign" "" "0000565658" "0" "50" "19" "11150152" "11150153" "del" "0" "01943" "SMARCA4_000122" "g.11150152_11150153del" "" "" "" "SMARCA4(NM_001128849.1):c.4189_4190delAT (p.I1397Pfs*2), SMARCA4(NM_001128849.3):c.4189_4190delAT (p.I1397Pfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11039476_11039477del" "" "VUS" "" "0000565659" "0" "30" "19" "11169535" "11169535" "subst" "6.0934E-5" "01943" "SMARCA4_000123" "g.11169535C>T" "" "" "" "SMARCA4(NM_001128844.1):c.4605C>T (p.N1535=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11058859C>T" "" "likely benign" "" "0000565660" "0" "50" "19" "11170541" "11170541" "subst" "0" "02325" "SMARCA4_000124" "g.11170541A>G" "" "" "" "SMARCA4(NM_001128844.3):c.4748A>G (p.E1583G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11059865A>G" "" "VUS" "" "0000604254" "0" "70" "19" "11143976" "11143976" "subst" "0" "01164" "SMARCA4_000125" "g.11143976C>T" "" "" "" "" "ACMG: PM1,PM2,PM5,PM6,PP3; Sekiguchi et al. 2019. J Hum Genet 12: 1173" "Germline" "" "" "0" "" "" "g.11033300C>T" "" "likely pathogenic" "ACMG" "0000617297" "0" "90" "19" "11098557" "11098557" "dup" "0" "02325" "SMARCA4_000127" "g.11098557dup" "" "" "" "SMARCA4(NM_001128844.3):c.1075dupC (p.R359Pfs*28)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10987881dup" "" "pathogenic" "" "0000623916" "0" "50" "19" "11097188" "11097188" "subst" "0" "02325" "SMARCA4_000126" "g.11097188G>A" "" "" "" "SMARCA4(NM_001128844.3):c.679G>A (p.A227T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10986512G>A" "" "VUS" "" "0000649882" "1" "30" "19" "11098596" "11098596" "subst" "0.00952772" "03575" "SMARCA4_000055" "g.11098596T>C" "15/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "15 heterozygous, no homozygous; {DB:CLININrs140192268}" "Germline" "" "rs140192268" "0" "" "" "g.10987920T>C" "" "likely benign" "" "0000658450" "0" "30" "19" "11097210" "11097210" "subst" "7.64059E-6" "01943" "SMARCA4_000129" "g.11097210C>T" "" "" "" "SMARCA4(NM_001128844.1):c.701C>T (p.P234L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10986534C>T" "" "likely benign" "" "0000658451" "0" "30" "19" "11097217" "11097228" "dup" "0" "02325" "SMARCA4_000130" "g.11097217_11097228dup" "" "" "" "SMARCA4(NM_001128844.3):c.708_719dupTGGCCCCGGCCC (p.G241_P244dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10986541_10986552dup" "" "likely benign" "" "0000658452" "0" "30" "19" "11097231" "11097242" "del" "0" "02325" "SMARCA4_000131" "g.11097231_11097242del" "" "" "" "SMARCA4(NM_001128844.3):c.722_733delGTCCCGGCCCGG (p.G241_P244del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10986555_10986566del" "" "likely benign" "" "0000658453" "0" "30" "19" "11098501" "11098501" "subst" "0" "01943" "SMARCA4_000132" "g.11098501C>T" "" "" "" "SMARCA4(NM_001128844.1):c.1019C>T (p.A340V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10987825C>T" "" "likely benign" "" "0000658454" "0" "30" "19" "11132396" "11132396" "subst" "4.70979E-5" "02325" "SMARCA4_000133" "g.11132396C>T" "" "" "" "SMARCA4(NM_001128844.3):c.2617-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11021720C>T" "" "likely benign" "" "0000658455" "0" "30" "19" "11145790" "11145790" "subst" "0.000181719" "01943" "SMARCA4_000134" "g.11145790G>A" "" "" "" "SMARCA4(NM_001128844.1):c.4152G>A (p.T1384=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11035114G>A" "" "likely benign" "" "0000658456" "0" "50" "19" "11152026" "11152026" "subst" "0" "02325" "SMARCA4_000135" "g.11152026G>T" "" "" "" "SMARCA4(NM_001128844.3):c.4214G>T (p.R1405L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11041350G>T" "" "VUS" "" "0000658457" "0" "50" "19" "11170474" "11170474" "subst" "0" "01804" "SMARCA4_000136" "g.11170474C>T" "" "" "" "SMARCA4(NM_001128844.1):c.4681C>T (p.(Arg1561Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11059798C>T" "" "VUS" "" "0000664290" "0" "50" "19" "11134273" "11134273" "subst" "0" "01164" "SMARCA4_000137" "g.11134273T>G" "" "" "" "" "ACMG grading: PM2,PP3" "Germline" "" "" "0" "" "" "g.11023597T>G" "" "VUS" "ACMG" "0000675208" "0" "70" "19" "11113818" "11113818" "subst" "0" "03753" "SMARCA4_000139" "g.11113818G>A" "0.049" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000681230" "0" "30" "19" "11101924" "11101924" "subst" "6.62219E-5" "01943" "SMARCA4_000138" "g.11101924C>T" "" "" "" "SMARCA4(NM_001128844.1):c.1344C>T (p.R448=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681231" "0" "30" "19" "11135078" "11135078" "subst" "0.001447" "02327" "SMARCA4_000061" "g.11135078C>T" "" "" "" "SMARCA4(NM_001128844.1):c.3045C>T (p.G1015=), SMARCA4(NM_001128844.3):c.3045C>T (p.G1015=), SMARCA4(NM_003072.5):c.3045C>T (p.(Gly1015=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681233" "0" "50" "19" "11169504" "11169504" "subst" "0" "01804" "SMARCA4_000140" "g.11169504T>C" "" "" "" "SMARCA4(NM_001128849.1):c.4670T>C (p.(Leu1557Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692644" "0" "70" "19" "11105645" "11105645" "subst" "0" "02325" "SMARCA4_000141" "g.11105645C>T" "" "" "" "SMARCA4(NM_001128849.3):c.1561C>T (p.R521W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000698365" "11" "50" "19" "11144518" "11144518" "subst" "4.16188E-6" "00006" "SMARCA4_000142" "g.11144518G>A" "" "{PMID:Squeo 2020:32170002}" "" "" "" "Germline" "" "" "0" "" "" "g.11033842G>A" "" "VUS" "ACMG" "0000710202" "0" "90" "19" "11144014" "11144014" "subst" "0" "00006" "SMARCA4_000143" "g.11144014G>A" "" "{PMID:Hong 2020:33333793}" "" "" "" "De novo" "" "" "0" "" "" "g.11033338G>A" "" "pathogenic (dominant)" "" "0000727043" "0" "10" "19" "11097686" "11097686" "subst" "0.00373304" "02329" "SMARCA4_000106" "g.11097686T>A" "" "" "" "SMARCA4(NM_001128844.1):c.859+7T>A (p.(=)), SMARCA4(NM_001128844.3):c.859+7T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000727044" "0" "30" "19" "11106881" "11106881" "subst" "1.2183E-5" "01943" "SMARCA4_000144" "g.11106881T>C" "" "" "" "SMARCA4(NM_001128844.1):c.1594-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727045" "0" "50" "19" "11114030" "11114030" "subst" "0" "02325" "SMARCA4_000145" "g.11114030C>T" "" "" "" "SMARCA4(NM_001128849.3):c.1958C>T (p.P653L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727046" "0" "30" "19" "11118595" "11118595" "subst" "0" "01943" "SMARCA4_000146" "g.11118595G>A" "" "" "" "SMARCA4(NM_001128844.1):c.2019G>A (p.Q673=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727047" "0" "90" "19" "11123789" "11123789" "subst" "0" "02327" "SMARCA4_000147" "g.11123789G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000727048" "0" "30" "19" "11129703" "11129703" "subst" "8.1215E-6" "02325" "SMARCA4_000148" "g.11129703G>A" "" "" "" "SMARCA4(NM_001128849.3):c.2505+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727049" "0" "50" "19" "11132404" "11132404" "subst" "0" "02325" "SMARCA4_000149" "g.11132404C>T" "" "" "" "SMARCA4(NM_001128849.3):c.2620C>T (p.R874C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727050" "0" "70" "19" "11134267" "11134267" "subst" "0" "02329" "SMARCA4_000117" "g.11134267G>A" "" "" "" "SMARCA4(NM_001128844.3):c.2933G>A (p.R978Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000727051" "0" "70" "19" "11136144" "11136144" "subst" "0" "02327" "SMARCA4_000150" "g.11136144G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000727052" "0" "70" "19" "11144817" "11144817" "subst" "0" "01804" "SMARCA4_000151" "g.11144817G>A" "" "" "" "SMARCA4(NM_001128849.1):c.3892G>A (p.(Asp1298Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000727053" "0" "30" "19" "11145649" "11145649" "subst" "9.18627E-5" "02326" "SMARCA4_000152" "g.11145649C>T" "" "" "" "SMARCA4(NM_001128849.2):c.4011C>T (p.L1337=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000795623" "0" "70" "19" "11141529" "11141529" "subst" "0" "00000" "SMARCA4_000077" "g.11141529A>G" "" "{PMID:Nair 2018:30293248}" "" "NM_001128849.1:c.3506A; p.Asp1169Gly" "" "Unknown" "?" "" "0" "" "" "g.11030853A>G" "" "likely pathogenic" "" "0000808607" "0" "30" "19" "11114083" "11114083" "subst" "1.21914E-5" "01943" "SMARCA4_000153" "g.11114083C>T" "" "" "" "SMARCA4(NM_001128844.1):c.2001+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808608" "0" "90" "19" "11134269" "11134269" "subst" "0" "02327" "SMARCA4_000091" "g.11134269C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000845119" "0" "50" "19" "11097111" "11097111" "subst" "0.000148067" "00006" "SMARCA4_000154" "g.11097111A>T" ">1/309 cases" "{PMID:Jiang 2022:33563768}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10986435A>T" "" "VUS" "" "0000855391" "0" "30" "19" "11097622" "11097622" "subst" "3.70319E-5" "02325" "SMARCA4_000155" "g.11097622G>A" "" "" "" "SMARCA4(NM_001128849.3):c.802G>A (p.V268M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855392" "0" "10" "19" "11098463" "11098463" "subst" "0.00302148" "02329" "SMARCA4_000109" "g.11098463A>C" "" "" "" "SMARCA4(NM_001128844.1):c.981A>C (p.P327=), SMARCA4(NM_001128844.3):c.981A>C (p.P327=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855393" "0" "30" "19" "11107035" "11107035" "subst" "0.000723354" "02369" "SMARCA4_000156" "g.11107035A>G" "" "" "" "SMARCA4(NM_003072.4):c.1740A>G (p.K580=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855394" "0" "30" "19" "11113983" "11113983" "subst" "4.87286E-5" "02369" "SMARCA4_000157" "g.11113983A>G" "" "" "" "SMARCA4(NM_003072.4):c.1944-33A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855395" "0" "30" "19" "11123622" "11123622" "subst" "0.00260728" "02369" "SMARCA4_000116" "g.11123622C>A" "" "" "" "SMARCA4(NM_001128844.1):c.2275-3C>A, SMARCA4(NM_001128844.3):c.2275-3C>A, SMARCA4(NM_003072.3):c.2275-3C>A (p.?), SMARCA4(NM_003072.4):c.2275-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855396" "0" "30" "19" "11130371" "11130371" "subst" "8.16847E-6" "02369" "SMARCA4_000158" "g.11130371C>T" "" "" "" "SMARCA4(NM_003072.4):c.2610C>T (p.L870=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855397" "0" "10" "19" "11135189" "11135189" "subst" "0" "02369" "SMARCA4_000160" "g.11135189G>A" "" "" "" "SMARCA4(NM_003072.4):c.3081+75G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855398" "0" "30" "19" "11145825" "11145825" "subst" "0.00341508" "01804" "SMARCA4_000121" "g.11145825C>T" "" "" "" "SMARCA4(NM_001128844.1):c.4170+17C>T (p.(=)), SMARCA4(NM_001128844.3):c.4170+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855399" "0" "30" "19" "11169097" "11169097" "subst" "0" "02369" "SMARCA4_000161" "g.11169097G>A" "" "" "" "SMARCA4(NM_003072.4):c.4533+58G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865775" "0" "10" "19" "11096851" "11096851" "subst" "0.0277298" "01804" "SMARCA4_000028" "g.11096851A>G" "" "" "" "SMARCA4(NM_001128844.1):c.356-14A>G (p.(=)), SMARCA4(NM_001128844.3):c.356-14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000865776" "0" "10" "19" "11102006" "11102006" "subst" "0.00240018" "02329" "SMARCA4_000056" "g.11102006T>C" "" "" "" "SMARCA4(NM_001128844.1):c.1419+7T>C, SMARCA4(NM_001128844.3):c.1419+7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000865777" "0" "30" "19" "11102008" "11102008" "subst" "0.000981062" "01804" "SMARCA4_000026" "g.11102008C>T" "" "" "" "SMARCA4(NM_001128844.1):c.1419+9C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865778" "0" "50" "19" "11105691" "11105691" "subst" "0.000333989" "01804" "SMARCA4_000058" "g.11105691T>A" "" "" "" "SMARCA4(NM_001128844.1):c.1593+14T>A (p.(=)), SMARCA4(NM_001128844.3):c.1593+14T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865779" "0" "10" "19" "11118711" "11118711" "subst" "0.0246915" "01804" "SMARCA4_000030" "g.11118711C>T" "" "" "" "SMARCA4(NM_001128844.1):c.2123+12delinsT (p.(=)), SMARCA4(NM_001128844.3):c.2123+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000865780" "0" "30" "19" "11123622" "11123622" "subst" "0.00260728" "02329" "SMARCA4_000116" "g.11123622C>A" "" "" "" "SMARCA4(NM_001128844.1):c.2275-3C>A, SMARCA4(NM_001128844.3):c.2275-3C>A, SMARCA4(NM_003072.3):c.2275-3C>A (p.?), SMARCA4(NM_003072.4):c.2275-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865781" "0" "10" "19" "11123738" "11123738" "subst" "0.0107178" "01804" "SMARCA4_000031" "g.11123738C>T" "" "" "" "SMARCA4(NM_001128844.1):c.2388C>T (p.(Leu796=)), SMARCA4(NM_001128844.3):c.2388C>T (p.L796=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000865782" "0" "30" "19" "11134301" "11134301" "subst" "0.000200615" "01943" "SMARCA4_000159" "g.11134301C>T" "" "" "" "SMARCA4(NM_001128844.1):c.2967C>T (p.P989=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865783" "0" "30" "19" "11151970" "11151970" "subst" "0.000342921" "01804" "SMARCA4_000036" "g.11151970A>G" "" "" "" "SMARCA4(NM_001128844.1):c.4171-13A>G (p.(=)), SMARCA4(NM_001128844.3):c.4171-13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865784" "0" "30" "19" "11169499" "11169499" "subst" "2.43673E-5" "01804" "SMARCA4_000162" "g.11169499C>T" "" "" "" "SMARCA4(NM_001128844.1):c.4569C>T (p.(Asn1523=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865785" "0" "30" "19" "11170576" "11170576" "subst" "0.00868651" "01804" "SMARCA4_000068" "g.11170576G>C" "" "" "" "SMARCA4(NM_001128844.1):c.4768+15G>C (p.(=)), SMARCA4(NM_001128844.3):c.4768+15G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865786" "0" "50" "19" "11170778" "11170778" "subst" "3.37368E-5" "01943" "SMARCA4_000163" "g.11170778T>C" "" "" "" "SMARCA4(NM_001128844.1):c.4826T>C (p.L1609P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894679" "0" "50" "19" "11098489" "11098489" "subst" "1.83692E-5" "02325" "SMARCA4_000110" "g.11098489C>T" "" "" "" "SMARCA4(NM_001128849.3):c.1007C>T (p.P336L), SMARCA4(NM_003072.3):c.1007C>T (p.(Pro336Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894680" "0" "30" "19" "11135015" "11135015" "subst" "1.62756E-5" "02329" "SMARCA4_000164" "g.11135015C>T" "" "" "" "SMARCA4(NM_001128844.3):c.2982C>T (p.Y994=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894681" "0" "30" "19" "11141401" "11141401" "subst" "0.000200709" "02325" "SMARCA4_000165" "g.11141401G>A" "" "" "" "SMARCA4(NM_001128849.3):c.3383-5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894682" "0" "50" "19" "11170556" "11170556" "subst" "2.87394E-5" "02325" "SMARCA4_000166" "g.11170556C>T" "" "" "" "SMARCA4(NM_001128849.3):c.4859C>T (p.S1620F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000900727" "0" "30" "19" "11107035" "11107035" "subst" "0.000723354" "03779" "SMARCA4_000156" "g.11107035A>G" "" "" "" "" "" "Unknown" "" "rs114391904" "0" "" "" "" "" "likely benign" "" "0000908373" "0" "70" "19" "11143976" "11143976" "subst" "0" "00006" "SMARCA4_000125" "g.11143976C>T" "" "{PMID:Rimoldi 2022:36416235}" "" "" "" "De novo" "" "" "0" "" "" "g.11033300C>T" "" "likely pathogenic (dominant)" "" "0000922592" "0" "70" "19" "11101931" "11101931" "subst" "0" "00006" "SMARCA4_000072" "g.11101931C>T" "" "{PMID:Chen 2022:34906496}" "" "" "ACMG PS2, PM2, PP3, PP4" "De novo" "" "" "0" "" "" "g.10991255C>T" "" "likely pathogenic (dominant)" "ACMG" "0000922593" "0" "70" "19" "11106941" "11106941" "subst" "0" "00006" "SMARCA4_000114" "g.11106941G>T" "" "{PMID:Chen 2022:34906496}" "" "" "ACMG PS2, PM2, PP4" "De novo" "" "" "0" "" "" "g.10996265G>T" "" "likely pathogenic (dominant)" "ACMG" "0000922594" "0" "70" "19" "11106953" "11106953" "subst" "0" "00006" "SMARCA4_000168" "g.11106953T>G" "" "{PMID:Chen 2022:34906496}" "" "" "ACMG PS2, PM2, PP4" "De novo" "" "" "0" "" "" "g.10996277T>G" "" "likely pathogenic (dominant)" "ACMG" "0000922595" "0" "70" "19" "11106997" "11106997" "subst" "0" "00006" "SMARCA4_000169" "g.11106997G>C" "" "{PMID:Chen 2022:34906496}" "" "" "ACMG PS2, PM2, PP4" "De novo" "" "" "0" "" "" "g.10996321G>C" "" "likely pathogenic (dominant)" "ACMG" "0000922596" "0" "50" "19" "11132391" "11132391" "subst" "0" "00006" "SMARCA4_000170" "g.11132391G>T" "" "{PMID:Chen 2022:34906496}" "" "" "ACMG PS2, PM2" "De novo" "" "" "0" "" "" "g.11021715G>T" "" "VUS" "ACMG" "0000922597" "0" "70" "19" "11132440" "11132440" "subst" "0" "00006" "SMARCA4_000171" "g.11132440A>G" "" "{PMID:Chen 2022:34906496}" "" "" "ACMG PS2, PM2, PP4" "De novo" "" "" "0" "" "" "g.11021764A>G" "" "likely pathogenic (dominant)" "ACMG" "0000922598" "0" "70" "19" "11132488" "11132488" "subst" "0" "00006" "SMARCA4_000172" "g.11132488G>A" "" "{PMID:Chen 2022:34906496}" "" "" "ACMG PS2, PM2, PP4" "De novo" "" "" "0" "" "" "g.11021812G>A" "" "likely pathogenic (dominant)" "ACMG" "0000922599" "0" "70" "19" "11132522" "11132522" "subst" "0" "00006" "SMARCA4_000173" "g.11132522C>T" "" "{PMID:Chen 2022:34906496}" "" "" "ACMG PS2, PM2, PP4" "De novo" "" "" "0" "" "" "g.11021846C>T" "" "likely pathogenic (dominant)" "ACMG" "0000922600" "0" "90" "19" "11134270" "11134270" "subst" "0" "00006" "SMARCA4_000167" "g.11134270G>A" "" "{PMID:Chen 2022:34906496}" "" "" "ACMG PS1, PS2, PM2, PP3, PP4" "De novo" "" "" "0" "" "" "g.11023594G>A" "" "pathogenic (dominant)" "ACMG" "0000922601" "0" "90" "19" "11134270" "11134270" "subst" "0" "00006" "SMARCA4_000167" "g.11134270G>A" "" "{PMID:Chen 2022:34906496}" "" "" "ACMG PS1, PS2, PM2, PP3, PP4" "De novo" "" "" "0" "" "" "g.11023594G>A" "" "pathogenic (dominant)" "ACMG" "0000922602" "0" "90" "19" "11134270" "11134270" "subst" "0" "00006" "SMARCA4_000167" "g.11134270G>A" "" "{PMID:Chen 2022:34906496}" "" "" "ACMG PS1, PS2, PM2, PP3, PP4" "De novo" "" "" "0" "" "" "g.11023594G>A" "" "pathogenic (dominant)" "ACMG" "0000922603" "0" "70" "19" "11138519" "11138519" "subst" "0" "00006" "SMARCA4_000174" "g.11138519T>G" "" "{PMID:Chen 2022:34906496}" "" "" "ACMG PS2, PM2, PP4" "De novo" "" "" "0" "" "" "g.11027843T>G" "" "likely pathogenic (dominant)" "ACMG" "0000922604" "0" "70" "19" "11144027" "11144027" "subst" "4.06537E-6" "00006" "SMARCA4_000016" "g.11144027G>A" "" "{PMID:Chen 2022:34906496}" "" "" "ACMG PS2, PM2, PP4" "De novo" "" "" "0" "" "" "g.11033351G>A" "" "likely pathogenic (dominant)" "ACMG" "0000922638" "0" "90" "19" "11134270" "11134270" "subst" "0" "00006" "SMARCA4_000167" "g.11134270G>A" "" "{PMID:Scott 2022:33461977}, {PMID:Gofin 2022:35796094}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000922639" "0" "70" "19" "11144014" "11144014" "subst" "0" "00006" "SMARCA4_000143" "g.11144014G>A" "" "{PMID:Gofin 2022:35796094}" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000926785" "0" "50" "19" "11107041" "11107049" "del" "0" "02325" "SMARCA4_000175" "g.11107041_11107049del" "" "" "" "SMARCA4(NM_001128849.3):c.1746_1754delGAAAAAGAA (p.K586_K588del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000933395" "0" "70" "19" "11134266" "11134266" "subst" "0" "04558" "SMARCA4_000176" "g.11134266C>G" "" "" "Mou" "" "" "Germline" "" "" "0" "" "" "g.11023590C>G" "" "pathogenic" "" "0000939796" "0" "70" "19" "11144847" "11144847" "subst" "0" "00006" "SMARCA4_000178" "g.11144847C>T" "" "{PMID:Nambot 2018:29095811}" "" "" "" "De novo" "" "" "0" "" "" "g.11034171C>T" "" "likely pathogenic (dominant)" "" "0000939927" "0" "50" "19" "11095039" "11095039" "subst" "0" "03779" "SMARCA4_000177" "g.11095039A>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs2145726840" "0" "" "" "" "" "VUS" "" "0000944603" "0" "90" "19" "11132465" "11132465" "subst" "0" "01358" "SMARCA4_000179" "g.11132465C>T" "" "{PMID:van der Sluijs 2022:35579625}" "" "" "ACMG PS1, PM2" "Germline/De novo (untested)" "" "" "0" "" "" "g.11021789C>T" "" "pathogenic (dominant)" "ACMG" "0000944604" "0" "90" "19" "11132512" "11132512" "subst" "0" "01358" "SMARCA4_000180" "g.11132512A>G" "" "{PMID:van der Sluijs 2022:35579625}" "" "" "ACMG PS2, PM2" "De novo" "" "" "0" "" "" "g.11021836A>G" "" "pathogenic (dominant)" "ACMG" "0000944605" "0" "90" "19" "11144817" "11144817" "subst" "0" "01358" "SMARCA4_000151" "g.11144817G>A" "" "{PMID:van der Sluijs 2022:35579625}" "" "" "ACMG PS2, PM2" "De novo" "" "" "0" "" "" "g.11034141G>A" "" "pathogenic (dominant)" "ACMG" "0000951179" "0" "30" "19" "11144213" "11144213" "subst" "3.26723E-5" "02329" "SMARCA4_000181" "g.11144213C>T" "" "" "" "SMARCA4(NM_001128844.3):c.3774+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960263" "0" "70" "19" "11144131" "11144131" "subst" "0" "00006" "SMARCA4_000182" "g.11144131T>G" "" "{PMID:Poli 2024:38177409}" "" "" "" "De novo" "" "" "0" "" "" "g.11033455T>G" "" "likely pathogenic (dominant)" "" "0000969510" "0" "30" "19" "11138455" "11138455" "subst" "0" "02325" "SMARCA4_000183" "g.11138455T>C" "" "" "" "SMARCA4(NM_001128849.3):c.3216-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969512" "0" "50" "19" "11145804" "11145804" "subst" "0" "02327" "SMARCA4_000184" "g.11145804T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983142" "0" "50" "19" "11080384" "11080384" "subst" "0" "01804" "SMARCA4_000185" "g.11080384G>A" "" "" "" "SMARCA4(NM_003072.5):c.-32+8534G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983143" "0" "30" "19" "11094942" "11094942" "subst" "8.52101E-5" "01804" "SMARCA4_000103" "g.11094942G>A" "" "" "" "SMARCA4(NM_001128844.1):c.115G>A (p.A39T), SMARCA4(NM_003072.5):c.115G>A (p.(Ala39Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983144" "0" "30" "19" "11095984" "11095984" "subst" "0.000454955" "02329" "SMARCA4_000186" "g.11095984C>T" "" "" "" "SMARCA4(NM_001128844.3):c.258C>T (p.D86=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983145" "0" "30" "19" "11097014" "11097014" "subst" "3.73363E-5" "01804" "SMARCA4_000187" "g.11097014C>T" "" "" "" "SMARCA4(NM_003072.5):c.505C>T (p.(Pro169Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983146" "0" "50" "19" "11097602" "11097602" "subst" "0" "01804" "SMARCA4_000188" "g.11097602C>A" "" "" "" "SMARCA4(NM_003072.5):c.782C>A (p.(Pro261His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983147" "0" "50" "19" "11097617" "11097617" "subst" "3.28149E-5" "01804" "SMARCA4_000053" "g.11097617C>T" "" "" "" "SMARCA4(NM_001128844.1):c.797C>T (p.S266L), SMARCA4(NM_003072.5):c.797C>T (p.(Ser266Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983148" "0" "50" "19" "11098390" "11098390" "subst" "8.4969E-6" "01804" "SMARCA4_000189" "g.11098390T>C" "" "" "" "SMARCA4(NM_003072.5):c.908T>C (p.(Ile303Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983149" "0" "30" "19" "11100009" "11100009" "subst" "8.12269E-6" "01804" "SMARCA4_000190" "g.11100009G>A" "" "" "" "SMARCA4(NM_003072.3):c.1135G>A (p.(Ala379Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983150" "0" "30" "19" "11101993" "11101993" "subst" "0.0255521" "01804" "SMARCA4_000024" "g.11101993G>A" "" "" "" "SMARCA4(NM_001128844.3):c.1413G>A (p.K471=), SMARCA4(NM_003072.5):c.1413G>A (p.(Lys471=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983151" "0" "30" "19" "11105593" "11105593" "subst" "0.0249594" "01804" "SMARCA4_000027" "g.11105593A>G" "" "" "" "SMARCA4(NM_001128844.3):c.1509A>G (p.A503=), SMARCA4(NM_003072.5):c.1509A>G (p.(Ala503=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983152" "0" "30" "19" "11118598" "11118598" "subst" "0.000154468" "01804" "SMARCA4_000191" "g.11118598G>T" "" "" "" "SMARCA4(NM_003072.5):c.2022G>T (p.(Pro674=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983153" "0" "30" "19" "11145815" "11145815" "dup" "0" "01804" "SMARCA4_000192" "g.11145815dup" "" "" "" "SMARCA4(NM_003072.5):c.4170+7dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983154" "0" "50" "19" "11152204" "11152204" "subst" "0" "01804" "SMARCA4_000193" "g.11152204G>T" "" "" "" "SMARCA4(NM_003072.5):c.4392G>T (p.(Lys1464Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983155" "0" "30" "19" "11152371" "11152371" "subst" "0" "01804" "SMARCA4_000194" "g.11152371C>G" "" "" "" "SMARCA4(NM_003072.5):c.4424+135C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983156" "0" "30" "19" "11169514" "11169514" "subst" "0.0401415" "01804" "SMARCA4_000017" "g.11169514C>T" "" "" "" "SMARCA4(NM_003072.5):c.4584C>T (p.(Asp1528=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004289" "0" "30" "19" "11095067" "11095067" "subst" "0.00469738" "02329" "SMARCA4_000195" "g.11095067C>T" "" "" "" "SMARCA4(NM_001128844.3):c.222+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004290" "0" "30" "19" "11095961" "11095961" "subst" "2.03102E-5" "01804" "SMARCA4_000070" "g.11095961A>G" "" "" "" "SMARCA4(NM_003072.3):c.235A>G (p.(Met79Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004291" "0" "30" "19" "11095980" "11095980" "subst" "1.62481E-5" "01804" "SMARCA4_000196" "g.11095980C>T" "" "" "" "SMARCA4(NM_003072.3):c.254C>T (p.(Ser85Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004292" "0" "30" "19" "11097135" "11097135" "subst" "0" "01804" "SMARCA4_000197" "g.11097135C>T" "" "" "" "SMARCA4(NM_003072.3):c.626C>T (p.(Pro209Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004293" "0" "30" "19" "11098489" "11098489" "subst" "1.83692E-5" "01804" "SMARCA4_000110" "g.11098489C>T" "" "" "" "SMARCA4(NM_001128849.3):c.1007C>T (p.P336L), SMARCA4(NM_003072.3):c.1007C>T (p.(Pro336Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004294" "0" "70" "19" "11101965" "11101965" "subst" "0" "01804" "SMARCA4_000198" "g.11101965T>C" "" "" "" "SMARCA4(NM_003072.3):c.1385T>C (p.(Ile462Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001004295" "0" "50" "19" "11105597" "11105597" "subst" "0" "01804" "SMARCA4_000199" "g.11105597G>A" "" "" "" "SMARCA4(NM_003072.3):c.1513G>A (p.(Ala505Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004296" "0" "30" "19" "11107183" "11107183" "subst" "4.06065E-6" "01804" "SMARCA4_000200" "g.11107183C>T" "" "" "" "SMARCA4(NM_003072.3):c.1775C>T (p.(Ala592Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004297" "0" "50" "19" "11130285" "11130285" "subst" "0" "01804" "SMARCA4_000201" "g.11130285C>T" "" "" "" "SMARCA4(NM_003072.3):c.2524C>T (p.(Arg842Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004298" "0" "70" "19" "11132512" "11132512" "subst" "0" "01804" "SMARCA4_000180" "g.11132512A>G" "" "" "" "SMARCA4(NM_003072.3):c.2728A>G (p.(Thr910Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001004299" "0" "50" "19" "11144086" "11144086" "subst" "0" "01804" "SMARCA4_000202" "g.11144086A>C" "" "" "" "SMARCA4(NM_003072.3):c.3667A>C (p.(Asn1223His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004300" "0" "30" "19" "11144459" "11144459" "subst" "6.2136E-5" "01804" "SMARCA4_000066" "g.11144459C>T" "" "" "" "SMARCA4(NM_001128844.3):c.3791C>T (p.T1264M), SMARCA4(NM_003072.3):c.3791C>T (p.(Thr1264Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004301" "0" "50" "19" "11144536" "11144536" "subst" "0" "01804" "SMARCA4_000203" "g.11144536C>G" "" "" "" "SMARCA4(NM_003072.3):c.3868C>G (p.(Leu1290Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004302" "0" "50" "19" "11144541" "11144541" "subst" "0" "01804" "SMARCA4_000204" "g.11144541G>A" "" "" "" "SMARCA4(NM_003072.3):c.3873G>A (p.(Lys1291Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004303" "0" "30" "19" "11150144" "11150144" "del" "0" "01804" "SMARCA4_000205" "g.11150144del" "" "" "" "SMARCA4(NM_001128849.1):c.4181delG (p.(Gly1394fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004304" "0" "30" "19" "11150150" "11150150" "subst" "0.000246182" "01804" "SMARCA4_000206" "g.11150150A>G" "" "" "" "SMARCA4(NM_001128849.1):c.4187A>G (p.(Asp1396Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004305" "0" "30" "19" "11152074" "11152074" "subst" "1.2342E-5" "01804" "SMARCA4_000207" "g.11152074C>T" "" "" "" "SMARCA4(NM_003072.3):c.4262C>T (p.(Ser1421Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004306" "0" "50" "19" "11152179" "11152179" "subst" "0" "01804" "SMARCA4_000208" "g.11152179C>T" "" "" "" "SMARCA4(NM_003072.3):c.4367C>T (p.(Pro1456Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004307" "0" "50" "19" "11168942" "11168942" "subst" "0" "01804" "SMARCA4_000209" "g.11168942G>A" "" "" "" "SMARCA4(NM_003072.3):c.4436G>A (p.(Arg1479His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004308" "0" "50" "19" "11170857" "11170857" "subst" "0" "01804" "SMARCA4_000210" "g.11170857A>C" "" "" "" "SMARCA4(NM_003072.3):c.4905A>C (p.(Gln1635His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001007525" "0" "70" "19" "11144844" "11144844" "subst" "0" "00006" "SMARCA4_000211" "g.11144844G>A" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs1568512220" "0" "" "" "g.11034168G>A" "" "VUS" "" "0001015717" "0" "50" "19" "11095003" "11095003" "subst" "0" "02325" "SMARCA4_000212" "g.11095003A>C" "" "" "" "SMARCA4(NM_001128849.3):c.176A>C (p.Q59P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015718" "0" "30" "19" "11098581" "11098581" "subst" "0.000147677" "01804" "SMARCA4_000111" "g.11098581C>T" "" "" "" "SMARCA4(NM_001128844.1):c.1099C>T (p.(Leu367=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015719" "0" "30" "19" "11118559" "11118559" "subst" "0.00118201" "02329" "SMARCA4_000213" "g.11118559T>C" "" "" "" "SMARCA4(NM_001128844.3):c.2002-19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015720" "0" "70" "19" "11135005" "11135005" "subst" "0" "02327" "SMARCA4_000214" "g.11135005A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001015722" "0" "50" "19" "11150152" "11150153" "del" "0" "02325" "SMARCA4_000122" "g.11150152_11150153del" "" "" "" "SMARCA4(NM_001128849.1):c.4189_4190delAT (p.I1397Pfs*2), SMARCA4(NM_001128849.3):c.4189_4190delAT (p.I1397Pfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027151" "0" "70" "19" "11132602" "11132602" "subst" "0" "02329" "SMARCA4_000215" "g.11132602G>A" "" "" "" "SMARCA4(NM_003072.5):c.2818G>A (p.E940K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001042557" "0" "50" "19" "11069705" "11069705" "subst" "0" "01804" "SMARCA4_000216" "g.11069705G>C" "" "" "" "SMARCA4(NM_003072.5):c.-2177G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042558" "0" "50" "19" "11094960" "11094960" "subst" "0" "02325" "SMARCA4_000217" "g.11094960C>T" "" "" "" "SMARCA4(NM_001128844.3):c.133C>T (p.P45S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042559" "0" "30" "19" "11095544" "11095544" "subst" "0" "01804" "SMARCA4_000218" "g.11095544A>T" "" "" "" "SMARCA4(NM_003072.5):c.223-405A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042560" "0" "50" "19" "11096912" "11096912" "subst" "0.00018896" "01804" "SMARCA4_000219" "g.11096912C>G" "" "" "" "SMARCA4(NM_003072.5):c.403C>G (p.(Pro135Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042561" "0" "30" "19" "11097098" "11097098" "subst" "0.00303334" "01804" "SMARCA4_000049" "g.11097098C>T" "" "" "" "SMARCA4(NM_001128844.3):c.589C>T (p.P197S), SMARCA4(NM_003072.5):c.589C>T (p.(Pro197Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042562" "0" "30" "19" "11097100" "11097100" "subst" "0" "01804" "SMARCA4_000220" "g.11097100C>A" "" "" "" "SMARCA4(NM_003072.5):c.591C>A (p.(Pro197=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042563" "0" "50" "19" "11097598" "11097598" "subst" "4.08047E-6" "01804" "SMARCA4_000221" "g.11097598A>C" "" "" "" "SMARCA4(NM_003072.5):c.778A>C (p.(Met260Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042564" "0" "30" "19" "11103916" "11103916" "subst" "0" "01804" "SMARCA4_000222" "g.11103916C>T" "" "" "" "SMARCA4(NM_003072.5):c.1420-1588C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042565" "0" "30" "19" "11105090" "11105090" "subst" "0" "01804" "SMARCA4_000223" "g.11105090C>T" "" "" "" "SMARCA4(NM_003072.5):c.1420-414C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042566" "0" "30" "19" "11117606" "11117606" "subst" "0" "01804" "SMARCA4_000224" "g.11117606C>G" "" "" "" "SMARCA4(NM_003072.5):c.2002-972C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042567" "0" "30" "19" "11135078" "11135078" "subst" "0.001447" "01804" "SMARCA4_000061" "g.11135078C>T" "" "" "" "SMARCA4(NM_001128844.1):c.3045C>T (p.G1015=), SMARCA4(NM_001128844.3):c.3045C>T (p.G1015=), SMARCA4(NM_003072.5):c.3045C>T (p.(Gly1015=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042568" "0" "50" "19" "11135110" "11135110" "subst" "0" "01804" "SMARCA4_000225" "g.11135110A>G" "" "" "" "SMARCA4(NM_003072.5):c.3077A>G (p.(Lys1026Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042569" "0" "30" "19" "11137421" "11137421" "subst" "0" "01804" "SMARCA4_000226" "g.11137421C>T" "" "" "" "SMARCA4(NM_003072.5):c.3215+399C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042570" "0" "30" "19" "11141578" "11141578" "subst" "3.41583E-5" "01804" "SMARCA4_000227" "g.11141578G>A" "" "" "" "SMARCA4(NM_003072.5):c.3546+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042571" "0" "50" "19" "11150198" "11150198" "subst" "0" "01804" "SMARCA4_000228" "g.11150198G>A" "" "" "" "SMARCA4(NM_001128849.3):c.4235G>A (p.(Arg1412His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042572" "0" "30" "19" "11169014" "11169014" "subst" "6.09845E-5" "01804" "SMARCA4_000229" "g.11169014A>T" "" "" "" "SMARCA4(NM_003072.5):c.4508A>T (p.(Lys1503Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042573" "0" "50" "19" "11170729" "11170729" "subst" "0" "01804" "SMARCA4_000230" "g.11170729G>A" "" "" "" "SMARCA4(NM_003072.5):c.4777G>A (p.(Val1593Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042574" "0" "30" "19" "11170786" "11170786" "subst" "1.36896E-5" "01804" "SMARCA4_000231" "g.11170786G>A" "" "" "" "SMARCA4(NM_003072.5):c.4834G>A (p.(Gly1612Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042575" "0" "30" "19" "11172233" "11172233" "del" "0" "01804" "SMARCA4_000232" "g.11172233del" "" "" "" "SMARCA4(NM_003072.5):c.4912-227del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042576" "0" "50" "19" "11172458" "11172458" "subst" "0" "01804" "SMARCA4_000233" "g.11172458A>C" "" "" "" "SMARCA4(NM_003072.5):c.4912-2A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SMARCA4 ## Count = 442 "{{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}}" "0000018686" "00025766" "90" "3608" "0" "3608" "0" "c.3608G>A" "r.(?)" "p.(Arg1203His)" "" "0000018687" "00025766" "90" "3380" "0" "3380" "0" "c.3380A>G" "r.(?)" "p.(Asp1127Gly)" "" "0000018688" "00025766" "90" "1349" "0" "1349" "0" "c.1349C>A" "r.(?)" "p.(Ala450Asp)" "" "0000018689" "00025766" "90" "3127" "0" "3127" "0" "c.3127C>T" "r.(?)" "p.(Arg1043Trp)" "" "0000018699" "00025766" "55" "1413" "0" "1413" "0" "c.1413G>A" "r.(=)" "p.(=)" "" "0000018700" "00025766" "55" "1419" "8" "1419" "8" "c.1419+8C>T" "r.(=)" "p.(=)" "" "0000018701" "00025766" "55" "1419" "9" "1419" "9" "c.1419+9C>T" "r.(=)" "p.(=)" "" "0000018702" "00025766" "55" "1509" "0" "1509" "0" "c.1509A>G" "r.(=)" "p.(=)" "" "0000018703" "00025766" "55" "1524" "0" "1524" "0" "c.1524T>C" "r.(=)" "p.(=)" "" "0000018704" "00025766" "55" "1524" "0" "1524" "0" "c.1524T>C" "r.(=)" "p.(=)" "" "0000018705" "00025766" "55" "1524" "0" "1524" "0" "c.1524T>C" "r.(=)" "p.(=)" "" "0000018706" "00025766" "55" "1524" "0" "1524" "0" "c.1524T>C" "r.(=)" "p.(=)" "" "0000018707" "00025766" "55" "1524" "0" "1524" "0" "c.1524T>C" "r.(=)" "p.(=)" "" "0000018708" "00025766" "55" "1524" "0" "1524" "0" "c.1524T>C" "r.(=)" "p.(=)" "" "0000018709" "00025766" "55" "1524" "0" "1524" "0" "c.1524T>C" "r.(=)" "p.(=)" "" "0000018710" "00025766" "55" "1524" "0" "1524" "0" "c.1524T>C" "r.(=)" "p.(=)" "" "0000018711" "00025766" "55" "1524" "0" "1524" "0" "c.1524T>C" "r.(=)" "p.(=)" "" "0000018712" "00025766" "55" "1524" "0" "1524" "0" "c.1524T>C" "r.(=)" "p.(=)" "" "0000018713" "00025766" "55" "1524" "0" "1524" "0" "c.1524T>C" "r.(=)" "p.(=)" "" "0000018714" "00025766" "55" "1524" "0" "1524" "0" "c.1524T>C" "r.(=)" "p.(=)" "" "0000018715" "00025766" "55" "1524" "0" "1524" "0" "c.1524T>C" "r.(=)" "p.(=)" "" "0000018716" "00025766" "55" "1524" "0" "1524" "0" "c.1524T>C" "r.(=)" "p.(=)" "" "0000018717" "00025766" "55" "1524" "0" "1524" "0" "c.1524T>C" "r.(=)" "p.(=)" "" "0000018718" "00025766" "55" "1524" "0" "1524" "0" "c.1524T>C" "r.(=)" "p.(=)" "" "0000018719" "00025766" "55" "1761" "29" "1761" "29" "c.1761+29G>A" "r.(=)" "p.(=)" "" "0000018720" "00025766" "55" "1761" "29" "1761" "29" "c.1761+29G>A" "r.(=)" "p.(=)" "" "0000018721" "00025766" "55" "1762" "-37" "1762" "-37" "c.1762-37T>C" "r.(=)" "p.(=)" "" "0000018722" "00025766" "55" "1762" "-37" "1762" "-37" "c.1762-37T>C" "r.(=)" "p.(=)" "" "0000018723" "00025766" "55" "1762" "-37" "1762" "-37" "c.1762-37T>C" "r.(=)" "p.(=)" "" "0000018724" "00025766" "55" "1762" "-37" "1762" "-37" "c.1762-37T>C" "r.(=)" "p.(=)" "" "0000018725" "00025766" "55" "1762" "-37" "1762" "-37" "c.1762-37T>C" "r.(=)" "p.(=)" "" "0000018726" "00025766" "55" "1762" "-37" "1762" "-37" "c.1762-37T>C" "r.(=)" "p.(=)" "" "0000018727" "00025766" "55" "1762" "-37" "1762" "-37" "c.1762-37T>C" "r.(=)" "p.(=)" "" "0000018728" "00025766" "55" "1762" "-37" "1762" "-37" "c.1762-37T>C" "r.(=)" "p.(=)" "" "0000018729" "00025766" "55" "1762" "-37" "1762" "-37" "c.1762-37T>C" "r.(=)" "p.(=)" "" "0000018730" "00025766" "55" "1762" "-37" "1762" "-37" "c.1762-37T>C" "r.(=)" "p.(=)" "" "0000018731" "00025766" "55" "1762" "-37" "1762" "-37" "c.1762-37T>C" "r.(=)" "p.(=)" "" "0000018732" "00025766" "55" "1762" "-37" "1762" "-37" "c.1762-37T>C" "r.(=)" "p.(=)" "" "0000018733" "00025766" "55" "1762" "-37" "1762" "-37" "c.1762-37T>C" "r.(=)" "p.(=)" "" "0000018734" "00025766" "55" "1762" "-37" "1762" "-37" "c.1762-37T>C" "r.(=)" "p.(=)" "" "0000018735" "00025766" "55" "1762" "-37" "1762" "-37" "c.1762-37T>C" "r.(=)" "p.(=)" "" "0000018736" "00025766" "55" "1762" "-37" "1762" "-37" "c.1762-37T>C" "r.(=)" "p.(=)" "" "0000018737" "00025766" "55" "1762" "-37" "1762" "-37" "c.1762-37T>C" "r.(=)" "p.(=)" "" "0000018738" "00025766" "55" "1762" "-37" "1762" "-37" "c.1762-37T>C" "r.(=)" "p.(=)" "" "0000018739" "00025766" "55" "1762" "-37" "1762" "-37" "c.1762-37T>C" "r.(=)" "p.(=)" "" "0000018740" "00025766" "55" "1762" "-37" "1762" "-37" "c.1762-37T>C" "r.(=)" "p.(=)" "" "0000018741" "00025766" "55" "1944" "-19" "1944" "-19" "c.1944-19G>T" "r.(=)" "p.(=)" "" "0000018742" "00025766" "55" "1944" "-19" "1944" "-19" "c.1944-19G>T" "r.(=)" "p.(=)" "" "0000018743" "00025766" "55" "1944" "-19" "1944" "-19" "c.1944-19G>T" "r.(=)" "p.(=)" "" "0000018744" "00025766" "55" "1944" "-19" "1944" "-19" "c.1944-19G>T" "r.(=)" "p.(=)" "" "0000018745" "00025766" "55" "1944" "-19" "1944" "-19" "c.1944-19G>T" "r.(=)" "p.(=)" "" "0000018746" "00025766" "55" "1944" "-19" "1944" "-19" "c.1944-19G>T" "r.(=)" "p.(=)" "" "0000018747" "00025766" "55" "2123" "12" "2123" "12" "c.2123+12C>T" "r.(=)" "p.(=)" "" "0000018748" "00025766" "55" "2123" "12" "2123" "12" "c.2123+12C>T" "r.(=)" "p.(=)" "" "0000018749" "00025766" "55" "2388" "0" "2388" "0" "c.2388C>T" "r.(=)" "p.(=)" "" "0000018750" "00025766" "55" "2388" "0" "2388" "0" "c.2388C>T" "r.(=)" "p.(=)" "" "0000018751" "00025766" "55" "2388" "0" "2388" "0" "c.2388C>T" "r.(=)" "p.(=)" "" "0000018752" "00025766" "55" "2388" "0" "2388" "0" "c.2388C>T" "r.(=)" "p.(=)" "" "0000018753" "00025766" "55" "2439" "-33" "2439" "-33" "c.2439-33C>T" "r.(=)" "p.(=)" "" "0000018754" "00025766" "55" "2439" "-33" "2439" "-33" "c.2439-33C>T" "r.(=)" "p.(=)" "" "0000018755" "00025766" "55" "2439" "-33" "2439" "-33" "c.2439-33C>T" "r.(=)" "p.(=)" "" "0000018756" "00025766" "55" "2439" "-33" "2439" "-33" "c.2439-33C>T" "r.(=)" "p.(=)" "" "0000018757" "00025766" "55" "2439" "-33" "2439" "-33" "c.2439-33C>T" "r.(=)" "p.(=)" "" "0000018758" "00025766" "55" "2439" "-33" "2439" "-33" "c.2439-33C>T" "r.(=)" "p.(=)" "" "0000018759" "00025766" "55" "2439" "-33" "2439" "-33" "c.2439-33C>T" "r.(=)" "p.(=)" "" "0000018760" "00025766" "55" "2439" "-33" "2439" "-33" "c.2439-33C>T" "r.(=)" "p.(=)" "" "0000018761" "00025766" "55" "2439" "-33" "2439" "-33" "c.2439-33C>T" "r.(=)" "p.(=)" "" "0000018762" "00025766" "55" "2439" "-33" "2439" "-33" "c.2439-33C>T" "r.(=)" "p.(=)" "" "0000018763" "00025766" "55" "2439" "-33" "2439" "-33" "c.2439-33C>T" "r.(=)" "p.(=)" "" "0000018764" "00025766" "55" "3127" "0" "3127" "0" "c.3127C>T" "r.(?)" 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"p.(Pro305=)" "" "0000308589" "00025766" "10" "1419" "7" "1419" "7" "c.1419+7T>C" "r.(=)" "p.(=)" "" "0000308590" "00025766" "30" "1419" "9" "1419" "9" "c.1419+9C>T" "r.(=)" "p.(=)" "" "0000308591" "00025766" "30" "2275" "-10" "2275" "-10" "c.2275-10G>A" "r.(=)" "p.(=)" "" "0000308592" "00025766" "30" "3150" "0" "3150" "0" "c.3150C>T" "r.(?)" "p.(Tyr1050=)" "" "0000308593" "00025766" "30" "3435" "0" "3435" "0" "c.3435C>T" "r.(?)" "p.(Pro1145=)" "" "0000308594" "00025766" "50" "797" "0" "797" "0" "c.797C>T" "r.(?)" "p.(Ser266Leu)" "" "0000326173" "00025766" "50" "294" "0" "294" "0" "c.294G>T" "r.(?)" "p.(Met98Ile)" "" "0000326174" "00025766" "50" "4345" "0" "4345" "0" "c.4345G>A" "r.(?)" "p.(Glu1449Lys)" "" "0000339129" "00025766" "50" "235" "0" "235" "0" "c.235A>G" "r.(?)" "p.(Met79Val)" "" "0000339283" "00025766" "10" "1524" "0" "1524" "0" "c.1524T>C" "r.(?)" "p.(His508=)" "" "0000339285" "00025766" "10" "4887" "0" "4887" "0" "c.4887T>C" "r.(?)" "p.(Asp1629=)" "" "0000342928" "00025766" "70" "1351" "0" "1351" "0" "c.1351C>T" "r.(?)" "p.(Arg451Cys)" "" "0000343087" "00025766" "70" "1645" "0" "1645" "0" "c.1645C>T" "r.(?)" "p.(Arg549Cys)" "" "0000343890" "00025766" "50" "3506" "0" "3506" "0" "c.3506A>G" "r.(?)" "p.(Asp1169Gly)" "" "0000345930" "00025766" "50" "800" "0" "800" "0" "c.800G>T" "r.(?)" "p.(Gly267Val)" "" "0000346849" "00025766" "70" "3323" "0" "3323" "0" "c.3323T>C" "r.(?)" "p.(Leu1108Pro)" "" "0000351724" "00025766" "30" "3565" "0" "3565" "0" "c.3565C>T" "r.(?)" "p.(Arg1189*)" "" "0000351725" "00025766" "90" "3565" "0" "3565" "0" "c.3565C>T" "r.(?)" "p.(Arg1189*)" "" "0000351726" "00025766" "90" "3565" "0" "3565" "0" "c.3565C>T" "r.(?)" "p.(Arg1189*)" "" "0000351727" "00025766" "90" "171" "0" "171" "0" "c.171del" "r.(?)" "p.(Thr58Profs*36)" "" "0000351728" "00025766" "90" "809" "0" "810" "0" "c.809_810del" "r.(?)" "p.(Pro270Argfs*16)" "" "0000351729" "00025766" "90" "1679" "0" "1761" "2" "c.1679_1761+2del" "r.spl?" "p.(Tyr560Argfs*25)" "" "0000351730" "00025766" "90" "2002" "-2" "2002" "-2" "c.2002-2A>G" "r.(?)" "p.(Glu668_Gln758del)" "" "0000351731" "00025766" "90" "2184" "0" "2206" "0" "c.2184_2206del" "r.(?)" "p.(Gln729Cysfs*4)" "" "0000351732" "00025766" "90" "2290" "0" "2290" "0" "c.2290T>A" "r.(?)" "p.(Trp764Arg)" "" "0000351733" "00025766" "90" "2800" "0" "2800" "0" "c.2800A>T" "r.(?)" "p.(Lys934*)" "" "0000351734" "00025766" "90" "3254" "0" "3270" "0" "c.3254_3270del" "r.(?)" "p.(Leu1085Glnfs*32)" "" "0000351735" "00025766" "90" "3478" "0" "3478" "0" "c.3478G>C" "r.(?)" "p.(Gly1160Arg)" "" "0000351736" "00025766" "90" "3480" "0" "3480" "0" "c.3480del" "r.(?)" "p.(Leu1161Serfs*3)" "" "0000394676" "00025766" "50" "2335" "0" "2335" "0" "c.2335G>A" "r.(?)" "p.(Asp779Asn)" "" "0000394703" "00025766" "50" "3407" "0" "3407" "0" "c.3407del" "r.(?)" "p.(Gly1136Alafs*4)" "" "0000394714" "00025766" "50" "3533" "0" "3533" "0" "c.3533G>A" "r.(?)" "p.(Trp1178*)" "" "0000394725" "00025766" "50" "3565" "0" "3565" "0" "c.3565C>T" "r.(?)" "p.(Arg1189*)" "" "0000394736" "00025766" "50" "4039" "0" "4076" "0" "c.4039_4076del" "r.(?)" "p.(Ile1347*)" "" "0000394747" "00025766" "50" "2491" "0" "2505" "0" "c.2491_2505del" "r.(?)" "p.(Lys831_Lys835del)" "" "0000394855" "00025766" "50" "3533" "0" "3533" "0" "c.3533G>A" "r.(?)" "p.(Trp1178*)" "" "0000394937" "00025766" "50" "3407" "0" "3407" "0" "c.3407del" "r.(?)" "p.(Gly1136Alafs*4)" "" "0000394938" "00025766" "50" "3760" "0" "3760" "0" "c.3760G>T" "r.(?)" "p.(Glu1254*)" "" "0000394939" "00025766" "50" "3760" "0" "3760" "0" "c.3760G>T" "r.(?)" "p.(Glu1254*)" "" "0000394940" "00025766" "50" "3565" "0" "3565" "0" "c.3565C>T" "r.(?)" "p.(Arg1189*)" "" "0000394941" "00025766" "50" "2859" "1" "2859" "1" "c.2859+1G>C" "r.spl?" "p.?" "" "0000394942" "00025766" "50" "2859" "1" "2859" "1" "c.2859+1G>C" "r.spl?" "p.?" "" "0000394948" "00025766" "50" "2335" "0" "2335" "0" "c.2335G>A" "r.(?)" "p.(Asp779Asn)" "" "0000394959" "00025766" "50" "4039" "0" "4076" "0" "c.4039_4076del" "r.(?)" "p.(Ile1347*)" "" "0000394969" "00025766" "50" "4039" "0" "4076" "0" "c.4039_4076del" "r.(?)" "p.(Ile1347*)" "" "0000394970" "00025766" "50" "4039" "0" "4076" "0" "c.4039_4076del" "r.(?)" "p.(Ile1347*)" "" "0000394971" "00025766" "50" "3760" "0" "3760" "0" "c.3760G>T" "r.(?)" "p.(Glu1254*)" "" "0000394972" "00025766" "50" "3760" "0" "3760" "0" "c.3760G>T" "r.(?)" "p.(Glu1254*)" "" "0000394973" "00025766" "50" "3760" "0" "3760" "0" "c.3760G>T" "r.(?)" "p.(Glu1254*)" "" "0000394974" "00025766" "50" "3760" "0" "3760" "0" "c.3760G>T" "r.(?)" "p.(Glu1254*)" "" "0000395005" "00025766" "50" "3565" "0" "3565" "0" "c.3565C>T" "r.(?)" "p.(Arg1189*)" "" "0000395017" "00025766" "50" "3760" "0" "3760" "0" "c.3760G>T" "r.(?)" "p.(Glu1254*)" "" "0000395018" "00025766" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000395019" "00025766" "50" "1641" "0" "1641" "0" "c.1641del" "r.(?)" "p.(Asp547Glufs*66)" "" "0000395020" "00025766" "50" "3277" "0" "3277" "0" "c.3277C>T" "r.(?)" "p.(Arg1093*)" "" "0000395021" "00025766" "50" "3229" "0" "3229" "0" "c.3229C>T" "r.(?)" "p.(Arg1077*)" "" "0000395022" "00025766" "50" "4170" "1" "4170" "1" "c.4170+1G>A" "r.spl?" "p.?" "" "0000395023" "00025766" "50" "4170" "1" "4170" "1" "c.4170+1G>A" "r.spl?" "p.?" "" "0000395024" "00025766" "50" "643" "0" "643" "0" "c.643C>T" "r.(?)" "p.(Gln215*)" "" "0000395025" "00025766" "50" "643" "0" "643" "0" "c.643C>T" "r.(?)" "p.(Gln215*)" "" "0000395026" "00025766" "50" "2617" "-3" "2617" "-3" "c.2617-3C>G" "r.spl?" "p.?" "" "0000395027" "00025766" "50" "3239" "0" "3239" "0" "c.3239G>A" "r.(?)" "p.(Gly1080Asp)" "" "0000395028" "00025766" "50" "175" "0" "175" "0" "c.175C>T" "r.(?)" "p.(Gln59*)" "" "0000395029" "00025766" "50" "2859" "1" "2859" "1" "c.2859+1G>C" "r.spl?" "p.?" "" "0000395030" "00025766" "50" "2859" "1" "2859" "1" "c.2859+1G>C" "r.spl?" "p.?" "" "0000395031" "00025766" "50" "1224" "0" "1226" "0" "c.1224_1226delinsAG" "r.(?)" "p.(Leu409Glyfs*2)" "" "0000395032" "00025766" "50" "3638" "0" "3638" "0" "c.3638del" "r.(?)" "p.(Lys1213Argfs*3)" "" "0000395033" "00025766" "50" "3480" "0" "3480" "0" "c.3480dup" "r.(?)" "p.(Leu1161Alafs*15)" "" "0000395034" "00025766" "50" "2932" "0" "2932" "0" "c.2932C>T" "r.(?)" "p.(Arg978*)" "" "0000395035" "00025766" "50" "1141" "0" "1141" "0" "c.1141C>T" "r.(?)" "p.(Arg381*)" "" "0000395036" "00025766" "50" "175" "0" "175" "0" "c.175C>T" "r.(?)" "p.(Gln59*)" "" "0000395037" "00025766" "50" "2859" "1" "2859" "1" "c.2859+1G>C" "r.spl?" "p.?" "" "0000395038" "00025766" "50" "2859" "1" "2859" "1" "c.2859+1G>C" "r.spl?" "p.?" "" "0000395039" "00025766" "50" "2352" "0" "2352" "0" "c.2352dup" "r.(?)" "p.(Lys785Glufs*39)" "" "0000395040" "00025766" "50" "2935" "0" "2935" "0" "c.2935C>T" "r.(?)" "p.(Arg979*)" "" "0000395041" "00025766" "50" "722" "0" "735" "0" "c.722_735del" "r.(?)" "p.(Gly241Alafs*41)" "" "0000395042" "00025766" "50" "3013" "0" "3013" "0" "c.3013C>T" "r.(?)" "p.(Arg1005*)" "" "0000565628" "00025766" "50" "115" "0" "115" "0" "c.115G>A" "r.(?)" "p.(Ala39Thr)" "" "0000565629" "00025766" "30" "294" "0" "294" "0" "c.294G>T" "r.(?)" "p.(Met98Ile)" "" "0000565630" "00025766" "30" "423" "0" "423" "0" "c.423G>A" "r.(?)" "p.(Ser141=)" "" "0000565631" "00025766" "30" "761" "-3" "761" "-3" "c.761-3T>C" "r.spl?" "p.?" "" "0000565632" "00025766" "10" "859" "7" "859" "7" "c.859+7T>A" "r.(=)" "p.(=)" "" "0000565633" "00025766" "30" "859" "7" "859" "7" "c.859+7T>A" "r.(=)" "p.(=)" "" "0000565634" "00025766" "50" "872" "0" "872" "0" "c.872A>T" "r.(?)" "p.(Asn291Ile)" "" "0000565635" "00025766" "10" "930" "0" "930" "0" "c.930C>A" "r.(?)" "p.(Arg310=)" "" "0000565636" "00025766" "30" "981" "0" "981" "0" "c.981A>C" "r.(?)" "p.(Pro327=)" "" "0000565637" "00025766" "50" "1007" "0" "1007" "0" "c.1007C>T" "r.(?)" "p.(Pro336Leu)" "" "0000565639" "00025766" "30" "1114" "0" "1114" "0" "c.1114T>C" "r.(?)" "p.(Tyr372His)" "" "0000565640" "00025766" "30" "1419" "4" "1419" "4" "c.1419+4C>T" "r.spl?" "p.?" "" "0000565641" "00025766" "30" "1419" "8" "1419" "8" "c.1419+8C>T" "r.(=)" "p.(=)" "" "0000565642" "00025766" "10" "1594" "-289" "1594" "-289" "c.1594-289C>T" "r.(=)" "p.(=)" "" "0000565643" "00025766" "50" "1646" "0" "1646" "0" "c.1646G>T" "r.(?)" "p.(Arg549Leu)" "" "0000565644" "00025766" "50" "2021" "0" "2021" "0" "c.2021C>T" "r.(?)" "p.(Pro674Leu)" "" "0000565645" "00025766" "30" "2275" "-3" "2275" "-3" "c.2275-3C>A" "r.spl?" "p.?" "" "0000565646" "00025766" "30" "2275" "-3" "2275" "-3" "c.2275-3C>A" "r.spl?" "p.?" "" "0000565647" "00025766" "30" "2275" "-3" "2275" "-3" "c.2275-3C>A" "r.spl?" "p.?" "" "0000565648" "00025766" "70" "2932" "0" "2932" "0" "c.2932C>T" "r.(?)" "p.(Arg978Ter)" "" "0000565650" "00025766" "30" "3045" "0" "3045" "0" "c.3045C>T" "r.(?)" "p.(Gly1015=)" "" "0000565653" "00025766" "70" "3712" "0" "3712" "0" "c.3712T>A" "r.(?)" "p.(Ser1238Thr)" "" "0000565654" "00025766" "30" "3765" "0" "3765" "0" "c.3765G>A" "r.(?)" "p.(Glu1255=)" "" "0000565655" "00025766" "30" "3951" "7" "3951" "7" "c.3951+7G>A" "r.(=)" "p.(=)" "" "0000565656" "00025766" "30" "4170" "17" "4170" "17" "c.4170+17C>T" "r.(=)" "p.(=)" "" "0000565657" "00025766" "30" "4170" "17" "4170" "17" "c.4170+17C>T" "r.(=)" "p.(=)" "" "0000565658" "00025766" "50" "4171" "-1831" "4171" "-1830" "c.4171-1831_4171-1830del" "r.(=)" "p.(=)" "" "0000565659" "00025766" "30" "4605" "0" "4605" "0" "c.4605C>T" "r.(?)" "p.(Asn1535=)" "" "0000565660" "00025766" "50" "4748" "0" "4748" "0" "c.4748A>G" "r.(?)" "p.(Glu1583Gly)" "" "0000604254" "00025766" "70" "3557" "0" "3557" "0" "c.3557C>T" "r.(?)" "p.(Ala1186Val)" "" "0000617297" "00025766" "90" "1075" "0" "1075" "0" "c.1075dup" "r.(?)" "p.(Arg359ProfsTer28)" "" "0000623916" "00025766" "50" "679" "0" "679" "0" "c.679G>A" "r.(?)" "p.(Ala227Thr)" "" "0000649882" "00025766" "30" "1114" "0" "1114" "0" "c.1114T>C" "r.(?)" "p.(Tyr372His)" "" "0000658450" "00025766" "30" "701" "0" "701" "0" "c.701C>T" "r.(?)" "p.(Pro234Leu)" "" "0000658451" "00025766" "30" "708" "0" "719" "0" "c.708_719dup" "r.(?)" "p.(Gly241_Pro244dup)" "" "0000658452" "00025766" "30" "722" "0" "733" "0" "c.722_733del" "r.(?)" "p.(Gly241_Pro244del)" "" "0000658453" "00025766" "30" "1019" "0" "1019" "0" "c.1019C>T" "r.(?)" "p.(Ala340Val)" "" "0000658454" "00025766" "30" "2617" "-5" "2617" "-5" "c.2617-5C>T" "r.spl?" "p.?" "" "0000658455" "00025766" "30" "4152" "0" "4152" "0" "c.4152G>A" "r.(?)" "p.(Thr1384=)" "" "0000658456" "00025766" "50" "4214" "0" "4214" "0" "c.4214G>T" "r.(?)" "p.(Arg1405Leu)" "" "0000658457" "00025766" "50" "4681" "0" "4681" "0" "c.4681C>T" "r.(?)" "p.(Arg1561Trp)" "" "0000664290" "00025766" "50" "2939" "0" "2939" "0" "c.2939T>G" "r.(?)" "p.(Leu980Arg)" "" "0000675208" "00025766" "70" "1926" "0" "1926" "0" "c.1926G>A" "r.(?)" "p.(Trp642*)" "" "0000681230" "00025766" "30" "1344" "0" "1344" "0" "c.1344C>T" "r.(?)" "p.(Arg448=)" "" "0000681231" "00025766" "30" "3045" "0" "3045" "0" "c.3045C>T" "r.(?)" "p.(Gly1015=)" "" "0000681233" "00025766" "50" "4574" "0" "4574" "0" "c.4574T>C" "r.(?)" "p.(Leu1525Pro)" "" "0000692644" "00025766" "70" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521Trp)" "" "0000698365" "00025766" "50" "3850" "0" "3850" "0" "c.3850G>A" "r.(?)" "p.(Asp1284Asn)" "" "0000710202" "00025766" "90" "3595" "0" "3595" "0" "c.3595G>A" "r.(?)" "p.(Val1199Met)" "" "0000727043" "00025766" "10" "859" "7" "859" "7" "c.859+7T>A" "r.(=)" "p.(=)" "" "0000727044" "00025766" "30" "1594" "-8" "1594" "-8" "c.1594-8T>C" "r.(=)" "p.(=)" "" "0000727045" "00025766" "50" "1958" "0" "1958" "0" "c.1958C>T" "r.(?)" "p.(Pro653Leu)" "" "0000727046" "00025766" "30" "2019" "0" "2019" "0" "c.2019G>A" "r.(?)" "p.(Gln673=)" "" "0000727047" "00025766" "90" "2438" "1" "2438" "1" "c.2438+1G>A" "r.spl?" "p.?" "" "0000727048" "00025766" "30" "2505" "4" "2505" "4" "c.2505+4G>A" "r.spl?" "p.?" "" "0000727049" "00025766" "50" "2620" "0" "2620" "0" "c.2620C>T" "r.(?)" "p.(Arg874Cys)" "" "0000727050" "00025766" "70" "2933" "0" "2933" "0" "c.2933G>A" "r.(?)" "p.(Arg978Gln)" "" "0000727051" "00025766" "70" "3128" "0" "3128" "0" "c.3128G>A" "r.(?)" "p.(Arg1043Gln)" "" "0000727052" "00025766" "70" "3892" "0" "3892" "0" "c.3892G>A" "r.(?)" "p.(Asp1298Asn)" "" "0000727053" "00025766" "30" "4011" "0" "4011" "0" "c.4011C>T" "r.(?)" "p.(Leu1337=)" "" "0000795623" "00025766" "70" "3506" "0" "3506" "0" "c.3506A>G" "r.(?)" "p.(Asp1169Gly)" "" "0000808607" "00025766" "30" "2001" "10" "2001" "10" "c.2001+10C>T" "r.(=)" "p.(=)" "" "0000808608" "00025766" "90" "2935" "0" "2935" "0" "c.2935C>T" "r.(?)" "p.(Arg979*)" "" "0000845119" "00025766" "90" "602" "0" "602" "0" "c.602A>T" "r.(?)" "p.(Gln201Leu)" "" "0000855391" "00025766" "30" "802" "0" "802" "0" "c.802G>A" "r.(?)" "p.(Val268Met)" "" "0000855392" "00025766" "10" "981" "0" "981" "0" "c.981A>C" "r.(?)" "p.(Pro327=)" "" "0000855393" "00025766" "30" "1740" "0" "1740" "0" "c.1740A>G" "r.(?)" "p.(Lys580=)" "" "0000855394" "00025766" "30" "1944" "-33" "1944" "-33" "c.1944-33A>G" "r.(=)" "p.(=)" "" "0000855395" "00025766" "30" "2275" "-3" "2275" "-3" "c.2275-3C>A" "r.spl?" "p.?" "" "0000855396" "00025766" "30" "2610" "0" "2610" "0" "c.2610C>T" "r.(?)" "p.(Leu870=)" "" "0000855397" "00025766" "10" "3081" "75" "3081" "75" "c.3081+75G>A" "r.(=)" "p.(=)" "" "0000855398" "00025766" "30" "4170" "17" "4170" "17" "c.4170+17C>T" "r.(=)" "p.(=)" "" "0000855399" "00025766" "30" "4533" "58" "4533" "58" "c.4533+58G>A" "r.(=)" "p.(=)" "" "0000865775" "00025766" "10" "356" "-14" "356" "-14" "c.356-14A>G" "r.(=)" "p.(=)" "" "0000865776" "00025766" "10" "1419" "7" "1419" "7" "c.1419+7T>C" "r.(=)" "p.(=)" "" "0000865777" "00025766" "30" "1419" "9" "1419" "9" "c.1419+9C>T" "r.(=)" "p.(=)" "" "0000865778" "00025766" "50" "1593" "14" "1593" "14" "c.1593+14T>A" "r.(=)" "p.(=)" "" "0000865779" "00025766" "10" "2123" "12" "2123" "12" "c.2123+12C>T" "r.(=)" "p.(=)" "" "0000865780" "00025766" "30" "2275" "-3" "2275" "-3" "c.2275-3C>A" "r.spl?" "p.?" "" "0000865781" "00025766" "10" "2388" "0" "2388" "0" "c.2388C>T" "r.(?)" "p.(Leu796=)" "" "0000865782" "00025766" "30" "2967" "0" "2967" "0" "c.2967C>T" "r.(?)" "p.(Pro989=)" "" "0000865783" "00025766" "30" "4171" "-13" "4171" "-13" "c.4171-13A>G" "r.(=)" "p.(=)" "" "0000865784" "00025766" "30" "4569" "0" "4569" "0" "c.4569C>T" "r.(?)" "p.(Asn1523=)" "" "0000865785" "00025766" "30" "4768" "15" "4768" "15" "c.4768+15G>C" "r.(=)" "p.(=)" "" "0000865786" "00025766" "50" "4826" "0" "4826" "0" "c.4826T>C" "r.(?)" "p.(Leu1609Pro)" "" "0000894679" "00025766" "50" "1007" "0" "1007" "0" "c.1007C>T" "r.(?)" "p.(Pro336Leu)" "" "0000894680" "00025766" "30" "2982" "0" "2982" "0" "c.2982C>T" "r.(?)" "p.(Tyr994=)" "" "0000894681" "00025766" "30" "3383" "-5" "3383" "-5" "c.3383-5G>A" "r.spl?" "p.?" "" "0000894682" "00025766" "50" "4763" "0" "4763" "0" "c.4763C>T" "r.(?)" "p.(Ser1588Phe)" "" "0000900727" "00025766" "30" "1740" "0" "1740" "0" "c.1740A>G" "r.(?)" "p.(Lys580=)" "" "0000908373" "00025766" "70" "3557" "0" "3557" "0" "c.3557C>T" "r.(?)" "p.(Ala1186Val)" "" "0000922592" "00025766" "70" "1351" "0" "1351" "0" "c.1351C>T" "r.(?)" "p.(Arg451Cys)" "8" "0000922593" "00025766" "70" "1646" "0" "1646" "0" "c.1646G>T" "r.(?)" "p.(Arg549Leu)" "10" "0000922594" "00025766" "70" "1658" "0" "1658" "0" "c.1658T>G" "r.(?)" "p.(Leu553Arg)" "10" "0000922595" "00025766" "70" "1702" "0" "1702" "0" "c.1702G>C" "r.(?)" "p.(Val568Leu)" "10" "0000922596" "00025766" "50" "2617" "-10" "2617" "-10" "c.2617-10G>T" "r.spl" "p.?" "19i" "0000922597" "00025766" "70" "2656" "0" "2656" "0" "c.2656A>G" "r.(?)" "p.(Met886Val)" "19" "0000922598" "00025766" "70" "2704" "0" "2704" "0" "c.2704G>A" "r.(?)" "p.(Val902Met)" "19" "0000922599" "00025766" "70" "2738" "0" "2738" "0" "c.2738C>T" "r.(?)" "p.(Pro913Leu)" "19" "0000922600" "00025766" "90" "2936" "0" "2936" "0" "c.2936G>A" "r.(?)" "p.(Arg979Gln)" "20" "0000922601" "00025766" "90" "2936" "0" "2936" "0" "c.2936G>A" "r.(?)" "p.(Arg979Gln)" "20" "0000922602" "00025766" "90" "2936" "0" "2936" "0" "c.2936G>A" "r.(?)" "p.(Arg979Gln)" "20" "0000922603" "00025766" "70" "3275" "0" "3275" "0" "c.3275T>G" "r.(?)" "p.(Leu1092Arg)" "24" "0000922604" "00025766" "70" "3608" "0" "3608" "0" "c.3608G>A" "r.(?)" "p.(Arg1203His)" "26" "0000922638" "00025766" "90" "2936" "0" "2936" "0" "c.2936G>A" "r.(?)" "p.(Arg979Gln)" "" "0000922639" "00025766" "70" "3595" "0" "3595" "0" "c.3595G>A" "r.(?)" "p.(Val1199Met)" "" "0000926785" "00025766" "50" "1746" "0" "1754" "0" "c.1746_1754del" "r.(?)" "p.(Lys586_Lys588del)" "" "0000933395" "00025766" "70" "2932" "0" "2932" "0" "c.2932C>G" "r.(?)" "p.(Arg978Gly)" "20" "0000939796" "00025766" "70" "3922" "0" "3922" "0" "c.3922C>T" "r.(?)" "p.(Arg1308Trp)" "28" "0000939927" "00025766" "50" "212" "0" "212" "0" "c.212A>G" "r.(?)" "p.(Gln71Arg)" "" "0000944603" "00025766" "90" "2681" "0" "2681" "0" "c.2681C>T" "r.(?)" "p.(Thr894Met)" "" "0000944604" "00025766" "90" "2728" "0" "2728" "0" "c.2728A>G" "r.(?)" "p.(Thr910Ala)" "" "0000944605" "00025766" "90" "3892" "0" "3892" "0" "c.3892G>A" "r.(?)" "p.(Asp1298Asn)" "" "0000951179" "00025766" "30" "3774" "20" "3774" "20" "c.3774+20C>T" "r.(=)" "p.(=)" "" "0000960263" "00025766" "70" "3712" "0" "3712" "0" "c.3712T>G" "r.(?)" "p.(Ser1238Ala)" "" "0000969510" "00025766" "30" "3216" "-5" "3216" "-5" "c.3216-5T>C" "r.spl?" "p.?" "" "0000969512" "00025766" "50" "4166" "0" "4166" "0" "c.4166T>C" "r.(?)" "p.(Leu1389Pro)" "" "0000983142" "00025766" "50" "-32" "8534" "-32" "8534" "c.-32+8534G>A" "r.(=)" "p.(=)" "" "0000983143" "00025766" "30" "115" "0" "115" "0" "c.115G>A" "r.(?)" "p.(Ala39Thr)" "" "0000983144" "00025766" "30" "258" "0" "258" "0" "c.258C>T" "r.(?)" "p.(=)" "" "0000983145" "00025766" "30" "505" "0" "505" "0" "c.505C>T" "r.(?)" "p.(Pro169Ser)" "" "0000983146" "00025766" "50" "782" "0" "782" "0" "c.782C>A" "r.(?)" "p.(Pro261His)" "" "0000983147" "00025766" "50" "797" "0" "797" "0" "c.797C>T" "r.(?)" "p.(Ser266Leu)" "" "0000983148" "00025766" "50" "908" "0" "908" "0" "c.908T>C" "r.(?)" "p.(Ile303Thr)" "" "0000983149" "00025766" "30" "1135" "0" "1135" "0" "c.1135G>A" "r.(?)" "p.(Ala379Thr)" "" "0000983150" "00025766" "30" "1413" "0" "1413" "0" "c.1413G>A" "r.(?)" "p.(Lys471=)" "" "0000983151" "00025766" "30" "1509" "0" "1509" "0" "c.1509A>G" "r.(?)" "p.(Ala503=)" "" "0000983152" "00025766" "30" "2022" "0" "2022" "0" "c.2022G>T" "r.(?)" "p.(=)" "" "0000983153" "00025766" "30" "4170" "7" "4170" "7" "c.4170+7dup" "r.(=)" "p.(=)" "" "0000983154" "00025766" "50" "4392" "0" "4392" "0" "c.4392G>T" "r.(?)" "p.(Lys1464Asn)" "" "0000983155" "00025766" "30" "4424" "135" "4424" "135" "c.4424+135C>G" "r.(=)" "p.(=)" "" "0000983156" "00025766" "30" "4584" "0" "4584" "0" "c.4584C>T" "r.(?)" "p.(=)" "" "0001004289" "00025766" "30" "222" "18" "222" "18" "c.222+18C>T" "r.(=)" "p.(=)" "" "0001004290" "00025766" "30" "235" "0" "235" "0" "c.235A>G" "r.(?)" "p.(Met79Val)" "" "0001004291" "00025766" "30" "254" "0" "254" "0" "c.254C>T" "r.(?)" "p.(Ser85Leu)" "" "0001004292" "00025766" "30" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Pro209Leu)" "" "0001004293" "00025766" "30" "1007" "0" "1007" "0" "c.1007C>T" "r.(?)" "p.(Pro336Leu)" "" "0001004294" "00025766" "70" "1385" "0" "1385" "0" "c.1385T>C" "r.(?)" "p.(Ile462Thr)" "" "0001004295" "00025766" "50" "1513" "0" "1513" "0" "c.1513G>A" "r.(?)" "p.(Ala505Thr)" "" "0001004296" "00025766" "30" "1775" "0" "1775" "0" "c.1775C>T" "r.(?)" "p.(Ala592Val)" "" "0001004297" "00025766" "50" "2524" "0" "2524" "0" "c.2524C>T" "r.(?)" "p.(Arg842Trp)" "" "0001004298" "00025766" "70" "2728" "0" "2728" "0" "c.2728A>G" "r.(?)" "p.(Thr910Ala)" "" "0001004299" "00025766" "50" "3667" "0" "3667" "0" "c.3667A>C" "r.(?)" "p.(Asn1223His)" "" "0001004300" "00025766" "30" "3791" "0" "3791" "0" "c.3791C>T" "r.(?)" "p.(Thr1264Met)" "" "0001004301" "00025766" "50" "3868" "0" "3868" "0" "c.3868C>G" "r.(?)" "p.(Leu1290Val)" "" "0001004302" "00025766" "50" "3873" "0" "3873" "0" "c.3873G>A" "r.(?)" "p.(=)" "" "0001004303" "00025766" "30" "4171" "-1839" "4171" "-1839" "c.4171-1839del" "r.(=)" "p.(=)" "" "0001004304" "00025766" "30" "4171" "-1833" "4171" "-1833" "c.4171-1833A>G" "r.(=)" "p.(=)" "" "0001004305" "00025766" "30" "4262" "0" "4262" "0" "c.4262C>T" "r.(?)" "p.(Ser1421Phe)" "" "0001004306" "00025766" "50" "4367" "0" "4367" "0" "c.4367C>T" "r.(?)" "p.(Pro1456Leu)" "" "0001004307" "00025766" "50" "4436" "0" "4436" "0" "c.4436G>A" "r.(?)" "p.(Arg1479His)" "" "0001004308" "00025766" "50" "4905" "0" "4905" "0" "c.4905A>C" "r.(?)" "p.(Gln1635His)" "" "0001007525" "00025766" "70" "3919" "0" "3919" "0" "c.3919G>A" "r.(?)" "p.(Ala1307Thr)" "" "0001015717" "00025766" "50" "176" "0" "176" "0" "c.176A>C" "r.(?)" "p.(Gln59Pro)" "" "0001015718" "00025766" "30" "1099" "0" "1099" "0" "c.1099C>T" "r.(?)" "p.(Leu367=)" "" "0001015719" "00025766" "30" "2002" "-19" "2002" "-19" "c.2002-19T>C" "r.(=)" "p.(=)" "" "0001015720" "00025766" "70" "2974" "-2" "2974" "-2" "c.2974-2A>G" "r.spl?" "p.?" "" "0001015722" "00025766" "50" "4171" "-1831" "4171" "-1830" "c.4171-1831_4171-1830del" "r.(=)" "p.(=)" "" "0001027151" "00025766" "70" "2818" "0" "2818" "0" "c.2818G>A" "r.(?)" "p.(Glu940Lys)" "" "0001042557" "00025766" "50" "-2177" "0" "-2177" "0" "c.-2177G>C" "r.(?)" "p.(=)" "" "0001042558" "00025766" "50" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Pro45Ser)" "" "0001042559" "00025766" "30" "223" "-405" "223" "-405" "c.223-405A>T" "r.(=)" "p.(=)" "" "0001042560" "00025766" "50" "403" "0" "403" "0" "c.403C>G" "r.(?)" "p.(Pro135Ala)" "" "0001042561" "00025766" "30" "589" "0" "589" "0" "c.589C>T" "r.(?)" "p.(Pro197Ser)" "" "0001042562" "00025766" "30" "591" "0" "591" "0" "c.591C>A" "r.(?)" "p.(=)" "" "0001042563" "00025766" "50" "778" "0" "778" "0" "c.778A>C" "r.(?)" "p.(Met260Leu)" "" "0001042564" "00025766" "30" "1420" "-1588" "1420" "-1588" "c.1420-1588C>T" "r.(=)" "p.(=)" "" "0001042565" "00025766" "30" "1420" "-414" "1420" "-414" "c.1420-414C>T" "r.(=)" "p.(=)" "" "0001042566" "00025766" "30" "2002" "-972" "2002" "-972" "c.2002-972C>G" "r.(=)" "p.(=)" "" "0001042567" "00025766" "30" "3045" "0" "3045" "0" "c.3045C>T" "r.(?)" "p.(Gly1015=)" "" "0001042568" "00025766" "50" "3077" "0" "3077" "0" "c.3077A>G" "r.(?)" "p.(Lys1026Arg)" "" "0001042569" "00025766" "30" "3215" "399" "3215" "399" "c.3215+399C>T" "r.(=)" "p.(=)" "" "0001042570" "00025766" "30" "3546" "9" "3546" "9" "c.3546+9G>A" "r.(=)" "p.(=)" "" "0001042571" "00025766" "50" "4171" "-1785" "4171" "-1785" "c.4171-1785G>A" "r.(=)" "p.(=)" "" "0001042572" "00025766" "30" "4508" "0" "4508" "0" "c.4508A>T" "r.(?)" "p.(Lys1503Met)" "" "0001042573" "00025766" "50" "4777" "0" "4777" "0" "c.4777G>A" "r.(?)" "p.(Val1593Ile)" "" "0001042574" "00025766" "30" "4834" "0" "4834" "0" "c.4834G>A" "r.(?)" "p.(Gly1612Ser)" "" "0001042575" "00025766" "30" "4912" "-227" "4912" "-227" "c.4912-227del" "r.(=)" "p.(=)" "" "0001042576" "00025766" "50" "4912" "-2" "4912" "-2" "c.4912-2A>C" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 240 "{{screeningid}}" "{{variantid}}" "0000001274" "0000018686" "0000001274" "0000018700" "0000001274" "0000018802" "0000001274" "0000018822" "0000001275" "0000018753" "0000001275" "0000018823" "0000001276" "0000018703" "0000001276" "0000018722" "0000001276" "0000018765" "0000001276" "0000018803" "0000001276" "0000018824" "0000001281" "0000018704" "0000001281" "0000018723" "0000001281" "0000018755" "0000001282" "0000018756" "0000001284" "0000018757" "0000001285" "0000018705" "0000001285" "0000018724" "0000001285" "0000018767" "0000001285" "0000018815" "0000001285" "0000018825" "0000001290" "0000018804" "0000001290" "0000018826" "0000001292" "0000018758" "0000001295" "0000018706" "0000001295" "0000018725" "0000001295" "0000018768" "0000001295" "0000018805" "0000001295" "0000018816" "0000001295" "0000018827" "0000001296" "0000018707" "0000001296" "0000018726" "0000001296" "0000018769" "0000001296" "0000018806" "0000001296" "0000018828" "0000001297" "0000018759" "0000001297" "0000018820" "0000001299" "0000018708" "0000001299" "0000018727" "0000001299" "0000018741" "0000001299" "0000018750" "0000001299" "0000018770" "0000001299" "0000018786" "0000001299" "0000018794" "0000001299" "0000018807" "0000001299" "0000018819" "0000001299" "0000018829" "0000001299" "0000018838" "0000001300" "0000018821" "0000001301" "0000018771" "0000001302" "0000018709" "0000001302" "0000018728" "0000001302" "0000018772" "0000001302" "0000018830" "0000001303" "0000018710" "0000001303" "0000018729" "0000001303" "0000018773" "0000001303" "0000018808" "0000001303" "0000018831" "0000001304" "0000018711" "0000001304" "0000018730" "0000001304" "0000018774" "0000001304" "0000018787" "0000001304" "0000018795" "0000001305" "0000018687" "0000001305" "0000018712" "0000001305" "0000018731" "0000001305" "0000018742" "0000001305" "0000018775" "0000001305" "0000018788" "0000001305" "0000018796" "0000001306" "0000018713" "0000001306" "0000018719" "0000001306" "0000018732" "0000001306" "0000018747" "0000001306" "0000018776" "0000001306" "0000018832" "0000001308" "0000018714" "0000001308" "0000018733" "0000001308" "0000018751" "0000001308" "0000018760" "0000001308" "0000018777" "0000001308" "0000018817" "0000001308" "0000018833" "0000001308" "0000018839" "0000001308" "0000018840" "0000001309" "0000018688" "0000001309" "0000018761" "0000001309" "0000018778" "0000001309" "0000018809" "0000001309" "0000018818" "0000001309" "0000018834" "0000001310" "0000018715" "0000001310" "0000018734" "0000001310" "0000018779" "0000001310" "0000018835" "0000001311" "0000018716" "0000001311" "0000018735" "0000001311" "0000018743" "0000001311" "0000018780" "0000001311" "0000018789" "0000001311" "0000018797" "0000001311" "0000018810" "0000001312" "0000018736" "0000001312" "0000018744" "0000001312" "0000018781" "0000001312" "0000018790" "0000001312" "0000018798" "0000001312" "0000018811" "0000001312" "0000018836" "0000001313" "0000018737" "0000001313" "0000018745" "0000001313" "0000018782" "0000001313" "0000018791" "0000001313" "0000018799" "0000001313" "0000018812" "0000001314" "0000018701" "0000001315" "0000018738" "0000001315" "0000018752" "0000001315" "0000018762" "0000001315" "0000018801" "0000001315" "0000018813" "0000001317" "0000018699" "0000001317" "0000018702" "0000001317" "0000018717" "0000001317" "0000018720" "0000001317" "0000018739" "0000001317" "0000018748" "0000001317" "0000018784" "0000001317" "0000018814" "0000001317" "0000018837" "0000001329" "0000018689" "0000001329" "0000018764" "0000048004" "0000076949" "0000048005" "0000076950" "0000048006" "0000076951" "0000048134" "0000076954" "0000048158" "0000076978" "0000048159" "0000076980" "0000048160" "0000076981" "0000048161" "0000076982" "0000048162" "0000076983" "0000048163" "0000076984" "0000048164" "0000076985" "0000048165" "0000076986" "0000048176" "0000076997" "0000050351" "0000079331" "0000104499" "0000169394" "0000152885" "0000351724" 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