### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SOS1) # 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}}" "SOS1" "son of sevenless homolog 1 (Drosophila)" "2" "p21" "unknown" "NG_007530.1" "UD_132118361845" "" "https://www.LOVD.nl/SOS1" "" "1" "11187" "6654" "182530" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/SOS1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2018-08-17 12:00:17" "00000" "2022-05-09 15:51:19" ## 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}}" "00020028" "SOS1" "son of sevenless homolog 1 (Drosophila)" "001" "NM_005633.3" "" "NP_005624.2" "" "" "" "-41" "8277" "4002" "39347604" "39208690" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "00383" "NS" "Noonan syndrome (NS)" "" "" "" "autosomal dominant" "" "00008" "2014-05-14 14:26:30" "00006" "2021-12-10 21:51:32" "00563" "GINGF1" "fibromatosis, gingival (GINGF-1)" "AD" "135300" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00564" "NS4" "Noonan syndrome, type 4 (NS-4)" "AD" "610733" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00640" "CFC1" "cardiofaciocutaneous syndrome, type 1 (CFC-1)" "AD" "115150" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" "05166" "SUD" "death, sudden, unexplained (SUD)" "" "" "" "" "" "00006" "2016-05-19 16:34:23" "00006" "2018-09-11 12:14:13" "05441" "NS1" "Noonan syndrome, type 1 (NS1)" "AD" "163950" "" "autosomal dominant" "" "00006" "2018-06-20 14:58:17" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "SOS1" "00139" "SOS1" "00383" "SOS1" "00563" "SOS1" "00564" ## Individuals ## Do not remove or alter this header ## ## Count = 139 "{{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}}" "00104009" "" "" "" "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-509A" "00177014" "" "" "" "2" "" "02552" "{PMID:Abela 2016:26174906}" "3-generation family, affected twin brothers, unaffected heterozygous carrier mother" "M" "no" "Italy" "" "0" "" "" "" "72555" "00206140" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206141" "" "" "" "1" "" "00000" "" "# of cases: 1, fam unknown" "" "" "" "" "0" "" "" "" "" "00206142" "" "" "" "2" "" "00000" "" "unaffected carrier mother" "" "" "" "" "0" "" "" "" "" "00206143" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206144" "" "" "" "2" "" "00000" "" "# of cases: 2, fam unknown" "" "" "" "" "0" "" "" "" "" "00206145" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206146" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206147" "" "" "" "1" "" "00000" "" "# of cases: 1, sporadic" "" "" "" "" "0" "" "" "" "" "00206148" "" "" "" "3" "" "00000" "" "# of cases: 1, sporadic; 2, fam unknown" "" "" "" "" "0" "" "" "" "" "00206149" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206150" "" "" "" "1" "" "00000" "" "# of cases: 1, familial" "" "" "" "" "0" "" "" "" "" "00206151" "" "" "" "1" "" "03029" "" "" "F" "no" "Italy" "" "0" "" "" "" "" "00206152" "" "" "" "4" "" "00000" "" "# of cases: 1, sporadic; 3, fam unknown" "" "" "" "" "0" "" "" "" "" "00206153" "" "" "" "1" "" "00000" "" "" "F" "" "" "" "0" "" "" "" "" "00206154" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206155" "" "" "" "5" "" "00000" "" "# of cases: 3, sporadic; 2, fam unknown" "" "" "" "" "0" "" "" "" "" "00206156" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206157" "" "" "" "1" "" "00000" "" "# of cases: 1, fam unknown" "" "" "" "" "0" "" "" "" "" "00206158" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206159" "" "" "" "1" "" "00000" "" "" "M" "" "" "" "0" "" "" "" "" "00206160" "" "" "" "1" "" "00000" "" "" "M" "" "" "" "0" "" "" "" "" "00206161" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206162" "" "" "" "1" "" "00000" "" "" "M" "" "" "" "0" "" "" "" "" "00206163" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206164" "" "" "" "2" "" "00000" "" "" "M" "" "" "" "0" "" "" "" "" "00206165" "" "" "" "1" "" "00000" "" "# of cases: 1, fam unknown" "" "" "" "" "0" "" "" "" "" "00206166" "" "" "" "1" "" "00000" "" "# of cases: 1, fam unknown" "" "" "" "" "0" "" "" "" "" "00206167" "" "" "" "1" "" "00000" "" "# of cases: 1, fam unknown" "" "" "" "" "0" "" "" "" "" "00206168" "" "" "" "2" "" "00000" "" "# of cases: 1, sporadic; 1, fam unknown" "" "" "" "" "0" "" "" "" "" "00206169" "" "" "" "2" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206170" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206171" "" "" "" "2" "" "00000" "" "2 brothers" "M" "" "" "" "0" "" "" "" "" "00206172" "" "" "" "1" "" "00000" "" "# of cases: 1, sporadic" "" "" "" "" "0" "" "" "" "" "00206173" "" "" "" "6" "" "00000" "" "# of cases: 3, sporadic; 3, fam unknown" "" "" "" "" "0" "" "" "" "" "00206174" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206175" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206176" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206177" "" "" "" "2" "" "00000" "" "# of cases: 2, fam unknown" "" "" "" "" "0" "" "" "" "" "00206178" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206179" "" "" "" "1" "" "00000" "" "" "F" "" "" "" "0" "" "" "" "" "00206180" "" "" "" "1" "" "00000" "" "# of cases: 1, sporadic" "" "" "" "" "0" "" "" "" "" "00206181" "" "" "" "2" "" "00000" "" "# of cases: 1, sporadic; 1, fam unknown" "" "" "" "" "0" "" "" "" "" "00206182" "" "" "" "1" "" "00000" "" "# of cases: 1, fam unknown" "" "" "" "" "0" "" "" "" "" "00206183" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206184" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206185" "" "" "" "2" "" "00000" "" "# of cases: 2, fam unknown" "" "" "" "" "0" "" "" "" "" "00206186" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206187" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206188" "" "" "" "1" "" "00000" "" "# of cases: 1, sporadic" "" "" "" "" "0" "" "" "" "" "00206189" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206190" "" "" "" "1" "" "00000" "" "# of cases: 1, fam unknown" "" "" "" "" "0" "" "" "" "" "00206191" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206192" "" "" "" "1" "" "00000" "" "# of cases: 1, fam unknown" "" "" "" "" "0" "" "" "" "" "00206193" "" "" "" "1" "" "00000" "" "# of cases: 1, sporadic" "" "" "" "" "0" "" "" "" "" "00206194" "" "" "" "1" "" "00000" "" "# of cases: 1, sporadic, inerited from an apparently unaffected parent" "" "" "" "" "0" "" "" "" "" "00206195" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206196" "" "" "" "4" "" "00000" "" "# of cases: 4, fam unknown" "" "" "" "" "0" "" "" "" "" "00206197" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206198" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206199" "" "" "" "1" "" "00000" "" "" "M" "" "" "" "0" "" "" "" "" "00206200" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206201" "" "" "" "1" "" "00000" "" "# of cases: 1, fam unknown" "" "" "" "" "0" "" "" "" "" "00206202" "" "" "" "2" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206203" "" "" "" "11" "" "00000" "" "# of cases: 3, sporadic; 8, fam unknown" "" "" "" "" "0" "" "" "" "" "00206204" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206205" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206206" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206207" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206208" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206209" "" "" "" "2" "" "00000" "" "" "M" "" "" "" "0" "" "" "" "" "00206210" "" "" "" "2" "" "00000" "" "" "M" "" "" "" "0" "" "" "" "" "00206211" "" "" "" "2" "" "00000" "" "affected mother and child" "" "" "" "" "0" "" "" "" "" "00206212" "" "" "" "2" "" "00000" "" "affected mother and child" "" "" "" "" "0" "" "" "" "" "00206213" "" "" "" "2" "" "00000" "" "affected mother and child" "" "" "" "" "0" "" "" "" "" "00206214" "" "" "" "4" "" "00000" "" "# of cases: 2, sporadic; 2, fam unknown" "" "" "" "" "0" "" "" "" "" "00206215" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206216" "" "" "" "2" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206217" "" "" "" "2" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206218" "" "" "" "1" "" "00000" "" "# of cases: 1, fam unknown" "" "" "" "" "0" "" "" "" "" "00206219" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206220" "" "" "" "2" "" "00000" "" "# of cases: 2, sporadic" "" "" "" "" "0" "" "" "" "" "00206221" "" "" "" "9" "" "00000" "" "# of cases: 2, sporadic; 7, fam unknown" "" "" "" "" "0" "" "" "" "" "00206222" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206223" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206224" "" "" "" "2" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206225" "" "" "" "2" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206226" "" "" "" "1" "" "00000" "" "" "F" "" "" "" "0" "" "" "" "" "00206227" "" "" "" "1" "" "00000" "" "# of cases: 1, fam unknown" "" "" "" "" "0" "" "" "" "" "00206228" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206229" "" "" "" "2" "" "00000" "" "unaffected carrier parent" "" "" "" "" "0" "" "" "" "" "00206230" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206231" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206232" "" "" "" "2" "" "00000" "" "" "M" "" "" "" "0" "" "" "" "" "00206233" "" "" "" "4" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206234" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206235" "" "" "" "4" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206236" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206237" "" "" "" "2" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206238" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206239" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206240" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206241" "" "" "" "1" "" "00000" "" "# of cases: 1, fam unknown" "" "" "" "" "0" "" "" "" "" "00206242" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206243" "" "" "" "1" "" "00000" "" "# of cases: 1, fam unknown" "" "" "" "" "0" "" "" "" "" "00206244" "" "" "" "7" "" "00000" "" "# of cases: 1, sporadic; 6, fam unknown" "" "" "" "" "0" "" "" "" "" "00206245" "" "" "" "2" "" "00000" "" "unaffected carrier parent" "" "" "" "" "0" "" "" "" "" "00206246" "" "" "" "2" "" "00000" "" "" "F" "" "" "" "0" "" "" "" "" "00206247" "" "" "" "1" "" "00000" "" "" "F" "" "" "" "0" "" "" "" "" "00206248" "" "" "" "1" "" "00000" "" "" "M" "" "" "" "0" "" "" "" "" "00206249" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206250" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206251" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206252" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206253" "" "" "" "1" "" "00000" "" "# of cases: 1, familial, inherited from an affected parent" "" "" "" "" "0" "" "" "" "" "00206254" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206255" "" "" "" "1" "" "00000" "" "unaffected carrier father" "" "" "" "" "0" "" "" "" "" "00206256" "" "" "" "1" "" "00000" "" "large 5-generation family" "" "" "Brazil" "" "0" "" "" "" "" "00206257" "" "" "" "1" "" "00000" "" "# of cases: 1, fam unknown" "" "" "" "" "0" "" "" "" "" "00206258" "" "" "" "1" "" "00000" "" "# of cases: 1, fam unknown" "" "" "" "" "0" "" "" "" "" "00206259" "" "" "" "1" "" "00000" "" "# of cases: 1, fam unknown" "" "" "" "" "0" "" "" "" "" "00206260" "" "" "" "2" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00207759" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00207805" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00261165" "" "" "" "4" "" "00006" "{DOI:Fischer-Zirnsak 2019:10.1016/j.ajhg.2019.07.002}" "2-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives" "F" "" "" "" "0" "" "" "" "Fam2PatI2 (mother)" "00292736" "" "" "" "28" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292737" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292738" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292739" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292741" "" "" "" "15" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292742" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292743" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292744" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00301390" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00301521" "" "" "" "2" "" "03580" "{PMID:Santoro 2018:28456002}" "2-generation family, affected mother/son" "M" "?" "Italy" "" "0" "" "" "" "FamPatII1" "00315500" "" "" "" "1" "" "01602" "" "" "F" "" "Switzerland" "57y" "" "" "" "" "" "00374861" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4850" "00386501" "" "" "" "1" "" "00006" "{PMID:Nair 2018:30293248}" "patient" "" "" "Lebanon" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 135 "{{individualid}}" "{{diseaseid}}" "00104009" "03381" "00177014" "00344" "00206140" "00198" "00206141" "00383" "00206142" "00383" "00206143" "00383" "00206144" "00383" "00206145" "00383" "00206146" "00383" "00206147" "00383" "00206148" "00383" "00206149" "00383" "00206150" "00383" "00206151" "05441" "00206152" "00383" "00206153" "00383" "00206154" "00383" "00206155" "00383" "00206156" "00383" "00206157" "00383" "00206158" "00383" "00206159" "00383" "00206160" "00383" "00206161" "00383" "00206162" "00383" "00206163" "00383" "00206164" "00383" "00206165" "00383" "00206166" "00383" "00206167" "00383" "00206168" "00383" "00206169" "00383" "00206170" "00383" "00206171" "00383" "00206172" "00383" "00206173" "00383" "00206174" "00383" "00206175" "00383" "00206176" "00383" "00206177" "00383" "00206178" "00383" "00206179" "00383" "00206180" "00383" "00206181" "00383" "00206182" "00383" "00206183" "00383" "00206184" "00383" "00206185" "00383" "00206186" "00383" "00206187" "00383" "00206188" "00383" "00206189" "00383" "00206190" "00383" "00206191" "00640" "00206192" "00383" "00206193" "00383" "00206194" "00383" "00206195" "00383" "00206196" "00383" "00206197" "00383" "00206198" "00383" "00206199" "00383" "00206200" "00383" "00206201" "00383" "00206202" "00383" "00206203" "00383" "00206204" "00383" "00206205" "00383" "00206206" "00383" "00206207" "00383" "00206208" "00383" "00206209" "00383" "00206210" "00383" "00206211" "00383" "00206212" "00383" "00206213" "00383" "00206214" "00383" "00206215" "00383" "00206216" "00383" "00206217" "00383" "00206218" "00383" "00206219" "00383" "00206220" "00383" "00206221" "00383" "00206222" "00383" "00206223" "00383" "00206224" "00383" "00206225" "00383" "00206226" "00383" "00206227" "00383" "00206228" "00383" "00206229" "00383" "00206232" "00383" "00206233" "00383" "00206234" "00383" "00206235" "00383" "00206236" "00383" "00206237" "00383" "00206238" "00383" "00206239" "00383" "00206240" "00383" "00206241" "00383" "00206242" "00383" "00206243" "00383" "00206244" "00383" "00206245" "00383" "00206246" "00383" "00206247" "00383" "00206248" "00383" "00206249" "00383" "00206250" "00383" "00206251" "00383" "00206252" "00383" "00206253" "00383" "00206254" "00383" "00206255" "00383" "00206256" "00563" "00206257" "00383" "00206258" "00383" "00206259" "00383" "00206260" "00383" "00261165" "05162" "00292736" "00198" "00292737" "00198" "00292738" "00198" "00292739" "00198" "00292741" "00198" "00292742" "00198" "00292743" "00198" "00292744" "00198" "00301390" "00198" "00301521" "00383" "00315500" "05166" "00374861" "00198" "00386501" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00344, 00383, 00563, 00564, 00640, 03381, 05162, 05166, 05441 ## Count = 128 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000081943" "03381" "00104009" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "0000141831" "00344" "00177014" "02552" "Familial, X-linked recessive" "" "HP:0001252\r\nHP:0002509\r\nHP:0001266\r\nHP:0000219\r\nHP:0002705\r\nHP:000319\r\nHP:0000286\r\nHP:0000494\r\nHP:0000508\r\nHP:0011359\r\nHP:0100798" "01y00m" "" "" "" "" "" "" "" "Snyder-Robinson syndrome" "" "" "0000154281" "00198" "00206140" "00000" "Unknown" "" "Diabetes, type 2, association with" "" "" "" "" "" "" "" "" "" "" "" "0000154282" "00383" "00206141" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154283" "00383" "00206142" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154284" "00383" "00206143" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154285" "00383" "00206144" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154286" "00383" "00206145" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154287" "00383" "00206146" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154288" "00383" "00206147" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154289" "00383" "00206148" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154290" "00383" "00206149" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154291" "00383" "00206150" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154292" "05441" "00206151" "03029" "Familial, autosomal dominant" "" "a myopathic appearance of the face with bilateral ptosis was evident, a high forehead, micrognatia, and slight webbing, Abnormalities of skin pigmentation included cafe-au-lait spots, lentigines and vitiligo areas" "" "9y" "" "" "" "" "" "" "" "" "" "0000154293" "00383" "00206152" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154294" "00383" "00206153" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154295" "00383" "00206154" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154296" "00383" "00206155" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154297" "00383" "00206156" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154298" "00383" "00206157" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154299" "00383" "00206158" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154300" "00383" "00206159" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154301" "00383" "00206160" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154302" "00383" "00206161" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154303" "00383" "00206162" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154304" "00383" "00206163" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154305" "00383" "00206164" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154306" "00383" "00206165" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154307" "00383" "00206166" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154308" "00383" "00206167" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154309" "00383" "00206168" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154310" "00383" "00206169" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154311" "00383" "00206170" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154312" "00383" "00206171" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154313" "00383" "00206172" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154314" "00383" "00206173" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154315" "00383" "00206174" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154316" "00383" "00206175" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154317" "00383" "00206176" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154318" "00383" "00206177" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154319" "00383" "00206178" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154320" "00383" "00206179" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154321" "00383" "00206180" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154322" "00383" "00206181" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154323" "00383" "00206182" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154324" "00383" "00206183" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154325" "00383" "00206184" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154326" "00383" "00206185" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154327" "00383" "00206186" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154328" "00383" "00206187" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154329" "00383" "00206188" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154330" "00383" "00206189" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154331" "00383" "00206190" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154332" "00640" "00206191" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154333" "00383" "00206192" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154334" "00383" "00206193" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154335" "00383" "00206194" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154336" "00383" "00206195" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154337" "00383" "00206196" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154338" "00383" "00206197" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154339" "00383" "00206198" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154340" "00383" "00206199" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154341" "00383" "00206200" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154342" "00383" "00206201" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154343" "00383" "00206202" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154344" "00383" "00206203" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154345" "00383" "00206204" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154346" "00383" "00206205" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154347" "00383" "00206206" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154348" "00383" "00206207" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154349" "00383" "00206208" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154350" "00383" "00206209" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154351" "00383" "00206210" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154352" "00383" "00206211" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154353" "00383" "00206212" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154354" "00383" "00206213" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154355" "00383" "00206214" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154356" "00383" "00206215" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154357" "00383" "00206216" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154358" "00383" "00206217" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154359" "00383" "00206218" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154360" "00383" "00206219" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154361" "00383" "00206220" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154362" "00383" "00206221" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154363" "00383" "00206222" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154364" "00383" "00206223" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154365" "00383" "00206224" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154366" "00383" "00206225" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154367" "00383" "00206226" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154368" "00383" "00206227" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154369" "00383" "00206228" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154370" "00383" "00206229" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154371" "00383" "00206232" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154372" "00383" "00206233" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154373" "00383" "00206234" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154374" "00383" "00206235" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154375" "00383" "00206236" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154376" "00383" "00206237" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154377" "00383" "00206238" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154378" "00383" "00206239" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154379" "00383" "00206240" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154380" "00383" "00206241" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154381" "00383" "00206242" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154382" "00383" "00206243" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154383" "00383" "00206244" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154384" "00383" "00206245" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154385" "00383" "00206246" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154386" "00383" "00206247" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154387" "00383" "00206248" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154388" "00383" "00206249" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154389" "00383" "00206250" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154390" "00383" "00206251" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154391" "00383" "00206252" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154392" "00383" "00206253" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154393" "00383" "00206254" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154394" "00383" "00206255" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154395" "00563" "00206256" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154396" "00383" "00206257" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154397" "00383" "00206258" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154398" "00383" "00206259" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154399" "00383" "00206260" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155546" "00198" "00207759" "01164" "Unknown" "" "HP:0004322 (Short stature); HP:0000957 (Cafe-au-lait spot)" "" "" "" "" "" "" "" "" "" "" "" "0000155587" "00198" "00207805" "01164" "Unknown" "" "HP:0001999 (Abnormal facial shape); HP:0002118 (Abnormality of the cerebral ventricles)" "" "" "" "" "" "" "" "" "" "" "" "0000199671" "05162" "00261165" "00006" "Familial, autosomal dominant" "" "developmental delay/intellectual disability (HP:0012758/HP:0001249);" "" "" "" "" "" "" "" "" "" "" "" "0000228568" "00198" "00301390" "01164" "Unknown" "" "Abnormality of skeletal morphology (HP:0011842); Global developmental delay (HP:0001263); Abnormality of nervous system physiology (HP:0012638); Growth abnormality (HP:0001507); Abnormality of thyroid physiology (HP:0002926); Short stature (HP:0004322); Multiple skeletal anomalies (HP:0005775); Hypothyroidism (HP:0000821)" "" "" "" "" "" "" "" "" "" "" "" "0000228649" "00383" "00301521" "03580" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000270071" "00198" "00374861" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "epilepsy, spasticity" "" "0000280307" "00198" "00386501" "00006" "Unknown" "" "intellectual disability; developmental delay; cardiac malformation (cardiac)" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 139 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000104480" "00104009" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000177906" "00177014" "1" "02552" "02552" "2018-08-16 11:53:07" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000207172" "00206140" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207173" "00206141" "1" "00000" "00002" "2011-07-13 11:53:17" "00006" "2011-07-13 18:13:28" "SEQ" "DNA" "" "" "0000207174" "00206142" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207175" "00206143" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207176" "00206144" "1" "00000" "00002" "2011-07-13 11:53:17" "00006" "2011-07-13 18:13:28" "SEQ" "DNA" "" "" "0000207177" "00206145" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207178" "00206146" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207179" "00206147" "1" "00000" "00002" "2011-07-13 11:53:17" "00006" "2011-07-13 18:13:28" "SEQ" "DNA" "" "" "0000207180" "00206148" "1" "00000" "00002" "2011-07-13 11:53:17" "00006" "2011-07-13 18:13:28" "SEQ" "DNA" "" "" "0000207181" "00206149" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207182" "00206150" "1" "00000" "00002" "2011-07-13 11:53:17" "00006" "2011-07-13 18:13:28" "SEQ" "DNA" "" "" "0000207183" "00206151" "1" "03029" "03029" "2014-10-15 12:07:10" "00006" "2014-10-26 21:23:05" "SEQ" "DNA" "" "" "0000207184" "00206152" "1" "00000" "00002" "2011-07-13 11:53:17" "00006" "2011-07-13 18:13:28" "SEQ" "DNA" "" "" "0000207185" "00206153" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207186" "00206154" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207187" "00206155" "1" "00000" "00002" "2011-07-13 11:53:17" "00006" "2011-07-13 18:13:28" "SEQ" "DNA" "" "" "0000207188" "00206156" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207189" "00206157" "1" "00000" "00002" "2011-07-13 11:53:17" "00006" "2011-07-13 18:13:28" "SEQ" "DNA" "" "" "0000207190" "00206158" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207191" "00206159" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207192" "00206160" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207193" "00206161" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207194" "00206162" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207195" "00206163" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207196" "00206164" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207197" "00206165" "1" "00000" "00002" "2011-07-13 11:53:17" "00006" "2011-07-13 18:13:28" "SEQ" "DNA" "" "" "0000207198" "00206166" "1" "00000" "00002" "2011-07-13 11:53:17" "00006" "2011-07-13 18:13:28" "SEQ" "DNA" "" "" "0000207199" "00206167" "1" "00000" "00002" "2011-07-13 11:53:17" "00006" "2011-07-13 18:13:28" "SEQ" "DNA" "" "" "0000207200" "00206168" "1" "00000" "00002" "2011-07-13 11:53:17" "00006" "2011-07-13 18:13:28" "SEQ" "DNA" "" "" "0000207201" "00206169" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207202" "00206170" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207203" "00206171" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207204" "00206172" "1" "00000" "00002" "2011-07-13 11:53:17" "00006" "2011-07-13 18:13:28" "SEQ" "DNA" "" "" "0000207205" "00206173" "1" "00000" "00002" "2011-07-13 11:53:17" "00006" "2011-07-13 18:13:28" "SEQ" "DNA" "" "" "0000207206" "00206174" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207207" "00206175" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207208" "00206176" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207209" "00206177" "1" "00000" "00002" "2011-07-13 11:53:17" "00006" "2011-07-13 18:13:28" "SEQ" "DNA" "" "" "0000207210" "00206178" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207211" "00206179" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207212" "00206180" "1" "00000" "00002" "2011-07-13 11:53:17" "00006" "2011-07-13 18:13:28" "SEQ" "DNA" "" "" "0000207213" "00206181" "1" "00000" "00002" "2011-07-13 11:53:17" "00006" "2011-07-13 18:13:28" "SEQ" "DNA" "" "" "0000207214" "00206182" "1" "00000" "00002" "2011-07-13 11:53:17" "00006" "2011-07-13 18:13:28" "SEQ" "DNA" "" "" "0000207215" "00206183" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207216" "00206184" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207217" "00206185" "1" "00000" "00002" "2011-07-13 11:53:17" "00006" "2011-07-13 18:13:28" "SEQ" "DNA" "" "" "0000207218" "00206186" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207219" "00206187" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207220" "00206188" "1" "00000" "00002" "2011-07-13 11:53:17" "00006" "2011-07-13 18:13:28" "SEQ" "DNA" "" "" "0000207221" "00206189" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207222" "00206190" "1" "00000" "00002" "2011-07-13 11:53:17" "00006" "2011-07-13 18:13:28" "SEQ" "DNA" "" "" "0000207223" "00206191" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207224" "00206192" "1" "00000" "00002" "2011-07-13 11:53:17" "00006" "2011-07-13 18:13:28" "SEQ" "DNA" "" "" "0000207225" "00206193" "1" "00000" "00002" "2011-07-13 11:53:17" "00006" "2011-07-13 18:13:28" "SEQ" "DNA" "" "" "0000207226" "00206194" "1" "00000" "00002" "2011-07-13 11:53:17" "00006" "2011-07-13 18:13:28" "SEQ" "DNA" "" "" "0000207227" "00206195" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207228" "00206196" "1" "00000" "00002" "2011-07-13 11:53:17" "00006" "2011-07-13 18:13:28" "SEQ" "DNA" "" "" "0000207229" "00206197" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207230" "00206198" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207231" "00206199" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207232" "00206200" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207233" "00206201" "1" "00000" "00002" "2011-07-13 11:53:17" "00006" "2011-07-13 18:13:28" "SEQ" "DNA" "" "" "0000207234" "00206202" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207235" "00206203" "1" "00000" "00002" "2011-07-13 11:53:17" "00006" "2011-07-13 18:13:28" "SEQ" "DNA" "" "" "0000207236" "00206204" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207237" "00206205" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207238" "00206206" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207239" "00206207" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207240" "00206208" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207241" "00206209" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207242" "00206210" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207243" "00206211" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207244" "00206212" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207245" "00206213" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207246" "00206214" "1" "00000" "00002" "2011-07-13 11:53:17" "00006" "2011-07-13 18:13:28" "SEQ" "DNA" "" "" "0000207247" "00206215" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207248" "00206216" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207249" "00206217" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207250" "00206218" "1" "00000" "00002" "2011-07-13 11:53:17" "00006" "2011-07-13 18:13:28" "SEQ" "DNA" "" "" "0000207251" "00206219" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207252" "00206220" "1" "00000" "00002" "2011-07-13 11:53:17" "00006" "2011-07-13 18:13:28" "SEQ" "DNA" "" "" "0000207253" "00206221" "1" "00000" "00002" "2011-07-13 11:53:17" "00006" "2011-07-13 18:13:28" "SEQ" "DNA" "" "" "0000207254" "00206222" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207255" "00206223" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207256" "00206224" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207257" "00206225" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207258" "00206226" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207259" "00206227" "1" "00000" "00002" "2011-07-13 11:53:17" "00006" "2011-07-13 18:13:28" "SEQ" "DNA" "" "" "0000207260" "00206228" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207261" "00206229" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207262" "00206230" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207263" "00206231" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207264" "00206232" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207265" "00206233" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207266" "00206234" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207267" "00206235" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207268" "00206236" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207269" "00206237" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207270" "00206238" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207271" "00206239" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207272" "00206240" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207273" "00206241" "1" "00000" "00002" "2011-07-13 11:53:17" "00006" "2011-07-13 18:13:28" "SEQ" "DNA" "" "" "0000207274" "00206242" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207275" "00206243" "1" "00000" "00002" "2011-07-13 11:53:17" "00006" "2011-07-13 18:13:28" "SEQ" "DNA" "" "" "0000207276" "00206244" "1" "00000" "00002" "2011-07-13 11:53:17" "00006" "2011-07-13 18:13:28" "SEQ" "DNA" "" "" "0000207277" "00206245" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207278" "00206246" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207279" "00206247" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207280" "00206248" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207281" "00206249" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207282" "00206250" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207283" "00206251" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207284" "00206252" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207285" "00206253" "1" "00000" "00002" "2011-07-13 11:53:17" "00006" "2011-07-13 18:13:28" "SEQ" "DNA" "" "" "0000207286" "00206254" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207287" "00206255" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000207288" "00206256" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000207289" "00206257" "1" "00000" "00002" "2011-07-13 11:53:17" "00006" "2011-07-13 18:13:28" "SEQ" "DNA" "" "" "0000207290" "00206258" "1" "00000" "00002" "2011-07-13 11:53:17" "00006" "2011-07-13 18:13:28" "SEQ" "DNA" "" "" "0000207291" "00206259" "1" "00000" "00002" "2011-07-13 11:53:17" "00006" "2011-07-13 18:13:28" "SEQ" "DNA" "" "" "0000207292" "00206260" "1" "00000" "00006" "2011-11-04 14:52:19" "" "" "SEQ" "DNA" "" "" "0000208799" "00207759" "1" "01164" "01164" "2018-11-30 14:23:06" "" "" "SEQ-NG" "DNA" "" "" "0000208846" "00207805" "1" "01164" "01164" "2018-11-30 14:48:38" "" "" "SEQ-NG" "DNA" "" "" "0000262271" "00261165" "1" "00006" "00006" "2019-08-11 12:19:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000293904" "00292736" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293905" "00292737" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293906" "00292738" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293907" "00292739" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293909" "00292741" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293910" "00292742" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293911" "00292743" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293912" "00292744" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000302511" "00301390" "1" "01164" "01164" "2020-05-15 11:17:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000302643" "00301521" "1" "03580" "03580" "2020-05-18 14:35:35" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000325862" "00315500" "1" "01602" "01602" "2020-12-21 14:13:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000376055" "00374861" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000387728" "00386501" "1" "00006" "00006" "2021-10-22 17:45:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 124 "{{screeningid}}" "{{geneid}}" "0000207172" "SOS1" "0000207173" "SOS1" "0000207174" "SOS1" "0000207175" "SOS1" "0000207176" "SOS1" "0000207177" "SOS1" "0000207178" "SOS1" "0000207179" "SOS1" "0000207180" "SOS1" "0000207181" "SOS1" "0000207182" "SOS1" "0000207183" "SOS1" "0000207184" "SOS1" "0000207185" "SOS1" "0000207186" "SOS1" "0000207187" "SOS1" "0000207188" "SOS1" "0000207189" "SOS1" "0000207190" "SOS1" "0000207191" "SOS1" "0000207192" "SOS1" "0000207193" "SOS1" "0000207194" "SOS1" "0000207195" "SOS1" "0000207196" "SOS1" "0000207197" "SOS1" "0000207198" "SOS1" "0000207199" "SOS1" "0000207200" "SOS1" "0000207201" "SOS1" "0000207202" "SOS1" "0000207203" "SOS1" "0000207204" "SOS1" "0000207205" "SOS1" "0000207206" "SOS1" "0000207207" "SOS1" "0000207208" "SOS1" "0000207209" "SOS1" "0000207210" "SOS1" "0000207211" "SOS1" "0000207212" "SOS1" "0000207213" "SOS1" "0000207214" "SOS1" "0000207215" "SOS1" "0000207216" "SOS1" "0000207217" "SOS1" "0000207218" "SOS1" "0000207219" "SOS1" "0000207220" "SOS1" "0000207221" "SOS1" "0000207222" "SOS1" "0000207223" "SOS1" "0000207224" "SOS1" "0000207225" "SOS1" "0000207226" "SOS1" "0000207227" "SOS1" "0000207228" "SOS1" "0000207229" "SOS1" "0000207230" "SOS1" "0000207231" "SOS1" "0000207232" "SOS1" "0000207233" "SOS1" "0000207234" "SOS1" "0000207235" "SOS1" "0000207236" "SOS1" "0000207237" "SOS1" "0000207238" "SOS1" "0000207239" "SOS1" "0000207240" "SOS1" "0000207241" "SOS1" "0000207242" "SOS1" "0000207243" "SOS1" "0000207244" "SOS1" "0000207245" "SOS1" "0000207246" "SOS1" "0000207247" "SOS1" "0000207248" "SOS1" "0000207249" "SOS1" "0000207250" "SOS1" "0000207251" "SOS1" "0000207252" "SOS1" "0000207253" "SOS1" "0000207254" "SOS1" "0000207255" "SOS1" "0000207256" "SOS1" "0000207257" "SOS1" "0000207258" "SOS1" "0000207259" "SOS1" "0000207260" "SOS1" "0000207261" "SOS1" "0000207262" "SOS1" "0000207263" "SOS1" "0000207264" "SOS1" "0000207265" "SOS1" "0000207266" "SOS1" "0000207267" "SOS1" "0000207268" "SOS1" "0000207269" "SOS1" "0000207270" "SOS1" "0000207271" "SOS1" "0000207272" "SOS1" "0000207273" "SOS1" "0000207274" "SOS1" "0000207275" "SOS1" "0000207276" "SOS1" "0000207277" "SOS1" "0000207278" "SOS1" "0000207279" "SOS1" "0000207280" "SOS1" "0000207281" "SOS1" "0000207282" "SOS1" "0000207283" "SOS1" "0000207284" "SOS1" "0000207285" "SOS1" "0000207286" "SOS1" "0000207287" "SOS1" "0000207288" "SOS1" "0000207289" "SOS1" "0000207290" "SOS1" "0000207291" "SOS1" "0000207292" "SOS1" "0000262271" "DLL1" "0000302643" "SOS1" "0000376055" "SOS1" ## 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 = 286 "{{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}}" "0000169334" "0" "70" "2" "39213258" "39213258" "subst" "0.000105741" "00587" "SOS1_000101" "g.39213258G>T" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_005633.3(SOS1):c.3709C>A p.(Pro1237Thr)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.38986117G>T" "" "likely pathogenic" "" "0000245741" "0" "10" "2" "39234158" "39234158" "subst" "0.00201089" "02330" "SOS1_000110" "g.39234158A>G" "" "" "" "SOS1(NM_005633.3):c.2673+14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39007017A>G" "" "benign" "" "0000245744" "0" "10" "2" "39250386" "39250386" "subst" "0.00933232" "02330" "SOS1_000121" "g.39250386A>G" "" "" "" "SOS1(NM_005633.3):c.1203-20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39023245A>G" "" "benign" "" "0000245853" "0" "10" "2" "39285926" "39285926" "subst" "0.000113979" "02330" "SOS1_000124" "g.39285926A>C" "" "" "" "SOS1(NM_005633.3):c.233T>G (p.F78C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39058785A>C" "" "benign" "" "0000245943" "0" "10" "2" "39240595" "39240595" "del" "0" "02330" "SOS1_000112" "g.39240595del" "" "" "" "SOS1(NM_005633.3):c.2167+16delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39013454del" "" "benign" "" "0000248336" "0" "30" "2" "39250386" "39250386" "subst" "0.00933232" "02325" "SOS1_000121" "g.39250386A>G" "" "" "" "SOS1(NM_005633.3):c.1203-20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39023245A>G" "" "likely benign" "" "0000250071" "0" "10" "2" "39250386" "39250386" "subst" "0.00933232" "02329" "SOS1_000121" "g.39250386A>G" "" "" "" "SOS1(NM_005633.3):c.1203-20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39023245A>G" "" "benign" "" "0000250084" "0" "10" "2" "39224147" "39224147" "subst" "0.00212163" "02329" "SOS1_000107" "g.39224147A>G" "" "" "" "SOS1(NM_005633.3):c.2997T>C (p.N999=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38997006A>G" "" "benign" "" "0000251741" "0" "30" "2" "39234158" "39234158" "subst" "0.00201089" "02326" "SOS1_000110" "g.39234158A>G" "" "" "" "SOS1(NM_005633.3):c.2673+14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39007017A>G" "" "likely benign" "" "0000296102" "0" "30" "2" "39249820" "39249820" "subst" "0" "02330" "SOS1_000116" "g.39249820T>C" "" "" "" "SOS1(NM_005633.3):c.1749A>G (p.E583=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39022679T>C" "" "likely benign" "" "0000296103" "0" "10" "2" "39241107" "39241107" "subst" "0.00750777" "02330" "SOS1_000115" "g.39241107G>A" "" "" "" "SOS1(NM_005633.3):c.1964C>T (p.P655L, p.(Pro655Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39013966G>A" "" "benign" "" "0000296105" "0" "10" "2" "39224112" "39224112" "subst" "0.00181332" "02330" "SOS1_000106" "g.39224112T>C" "" "" "" "SOS1(NM_005633.3):c.3032A>G (p.N1011S, p.(Asn1011Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38996971T>C" "" "benign" "" "0000296106" "0" "30" "2" "39213238" "39213238" "subst" "0.0000284766" "02330" "SOS1_000103" "g.39213238G>C" "" "" "" "SOS1(NM_005633.3):c.3729C>G (p.D1243E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38986097G>C" "" "likely benign" "" "0000296107" "0" "10" "2" "39213025" "39213025" "subst" "0.0000121914" "02330" "SOS1_000102" "g.39213025G>A" "" "" "" "SOS1(NM_005633.3):c.3942C>T (p.H1314=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38985884G>A" "" "benign" "" "0000298434" "0" "50" "2" "39250037" "39250037" "subst" "0.0000040823" "02325" "SOS1_000118" "g.39250037T>C" "" "" "" "SOS1(NM_005633.3):c.1532A>G (p.K511R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39022896T>C" "" "VUS" "" "0000298435" "0" "30" "2" "39249864" "39249864" "subst" "0.00032153" "02325" "SOS1_000117" "g.39249864G>C" "" "" "" "SOS1(NM_005633.3):c.1705C>G (p.L569V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39022723G>C" "" "likely benign" "" "0000299666" "0" "30" "2" "39250339" "39250339" "subst" "0.00746043" "02329" "SOS1_000120" "g.39250339C>T" "" "" "" "SOS1(NM_005633.3):c.1230G>A (p.Q410=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39023198C>T" "" "likely benign" "" "0000299667" "0" "10" "2" "39294787" "39294787" "subst" "0.0119057" "02329" "SOS1_000125" "g.39294787T>G" "" "" "" "SOS1(NM_005633.3):c.195A>C (p.R65=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39067646T>G" "" "benign" "" "0000299668" "0" "10" "2" "39241107" "39241107" "subst" "0.00750777" "02329" "SOS1_000115" "g.39241107G>A" "" "" "" "SOS1(NM_005633.3):c.1964C>T (p.P655L, p.(Pro655Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39013966G>A" "" "benign" "" "0000299670" "0" "30" "2" "39224377" "39224377" "subst" "0.000310131" "02329" "SOS1_000108" "g.39224377T>C" "" "" "" "SOS1(NM_005633.3):c.2964+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38997236T>C" "" "likely benign" "" "0000299671" "0" "30" "2" "39216404" "39216404" "subst" "0.000725725" "02329" "SOS1_000104" "g.39216404T>C" "" "" "" "SOS1(NM_005633.3):c.3391+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38989263T>C" "" "likely benign" "" "0000299672" "0" "30" "2" "39281905" "39281905" "subst" "0.00245781" "02329" "SOS1_000123" "g.39281905G>A" "" "" "" "SOS1(NM_005633.3):c.570C>T (p.D190=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39054764G>A" "" "likely benign" "" "0000302395" "0" "10" "2" "39240646" "39240646" "subst" "0.00690747" "02326" "SOS1_000114" "g.39240646C>T" "" "" "" "SOS1(NM_005633.3):c.2122G>A (p.A708T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39013505C>T" "" "benign" "" "0000302396" "0" "30" "2" "39224112" "39224112" "subst" "0.00181332" "02326" "SOS1_000106" "g.39224112T>C" "" "" "" "SOS1(NM_005633.3):c.3032A>G (p.N1011S, p.(Asn1011Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38996971T>C" "" "likely benign" "" "0000302397" "0" "30" "2" "39216404" "39216404" "subst" "0.000725725" "02326" "SOS1_000104" "g.39216404T>C" "" "" "" "SOS1(NM_005633.3):c.3391+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38989263T>C" "" "likely benign" "" "0000326945" "0" "50" "2" "39216410" "39216410" "subst" "0" "01804" "SOS1_000105" "g.39216410C>G" "" "" "" "SOS1(NM_005633.3):c.3391+1G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38989269C>G" "" "VUS" "" "0000326947" "0" "30" "2" "39240595" "39240595" "subst" "0.00110216" "01804" "SOS1_000113" "g.39240595A>C" "" "" "" "SOS1(NM_005633.3):c.2167+6T>G (, p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39013454A>C" "" "likely benign" "" "0000326948" "0" "30" "2" "39250115" "39250115" "subst" "0" "01804" "SOS1_000119" "g.39250115T>C" "" "" "" "SOS1(NM_005633.3):c.1454A>G (p.(Asn485Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39022974T>C" "" "likely benign" "" "0000337973" "0" "30" "2" "39281982" "39281982" "subst" "0.00000418533" "02327" "SOS1_000151" "g.39281982T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39054841T>C" "" "likely benign" "" "0000337974" "0" "10" "2" "39285799" "39285799" "subst" "0.000947586" "02327" "SOS1_000153" "g.39285799G>A" "" "" "" "SOS1(NM_005633.3):c.345+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39058658G>A" "" "benign" "" "0000340018" "0" "30" "2" "39278351" "39278351" "subst" "0.00000812552" "02327" "SOS1_000149" "g.39278351T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39051210T>G" "" "likely benign" "" "0000343095" "0" "90" "2" "39249915" "39249915" "subst" "0.0000040707" "02327" "SOS1_000141" "g.39249915T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39022774T>C" "" "pathogenic" "" "0000343096" "0" "90" "2" "39249914" "39249914" "subst" "0" "02327" "SOS1_000140" "g.39249914C>T" "" "" "" "SOS1(NM_005633.3):c.1655G>A (p.(Arg552Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39022773C>T" "" "pathogenic" "" "0000343894" "0" "30" "2" "39213367" "39213367" "subst" "0.000154426" "02327" "SOS1_000128" "g.39213367G>C" "" "" "" "SOS1(NM_005633.3):c.3600C>G (p.D1200E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38986226G>C" "" "likely benign" "" "0000344169" "0" "30" "2" "39241094" "39241094" "subst" "0" "02327" "SOS1_000135" "g.39241094A>T" "" "" "" "SOS1(NM_005633.3):c.1977T>A (p.D659E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39013953A>T" "" "likely benign" "" "0000344837" "0" "50" "2" "39250292" "39250292" "subst" "0" "02327" "SOS1_000145" "g.39250292T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39023151T>G" "" "VUS" "" "0000345418" "0" "90" "2" "39250272" "39250272" "subst" "0.00000407219" "02327" "SOS1_000143" "g.39250272C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39023131C>T" "" "pathogenic" "" "0000346185" "0" "90" "2" "39249758" "39249758" "subst" "0" "02327" "SOS1_000137" "g.39249758C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39022617C>A" "" "pathogenic" "" "0000346459" "0" "30" "2" "39262372" "39262372" "subst" "0" "02327" "SOS1_000147" "g.39262372T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39035231T>C" "" "likely benign" "" "0000346727" "0" "50" "2" "39250284" "39250284" "subst" "0" "02327" "SOS1_000144" "g.39250284T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39023143T>C" "" "VUS" "" "0000346795" "0" "90" "2" "39239460" "39239460" "subst" "0" "02327" "SOS1_000131" "g.39239460T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39012319T>A" "" "pathogenic" "" "0000347439" "0" "90" "2" "39283845" "39283845" "subst" "0" "02327" "SOS1_000152" "g.39283845T>C" "" "" "" "SOS1(NM_005633.3):c.508A>G (p.(Lys170Glu), p.K170E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39056704T>C" "" "pathogenic" "" "0000347634" "0" "70" "2" "39239474" "39239474" "subst" "0" "02327" "SOS1_000133" "g.39239474T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39012333T>G" "" "likely pathogenic" "" "0000347797" "0" "90" "2" "39278343" "39278343" "subst" "0" "02327" "SOS1_000148" "g.39278343A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39051202A>C" "" "pathogenic" "" "0000347799" "0" "90" "2" "39278343" "39278343" "subst" "0" "02327" "SOS1_000122" "g.39278343A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39051202A>G" "" "pathogenic" "" "0000348081" "0" "90" "2" "39241979" "39241979" "subst" "0" "02327" "SOS1_000136" "g.39241979A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39014838A>T" "" "pathogenic" "" "0000348118" "0" "70" "2" "39222476" "39222476" "subst" "0" "02327" "SOS1_000130" "g.39222476G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38995335G>C" "" "likely pathogenic" "" "0000348163" "0" "50" "2" "39213258" "39213258" "subst" "0.0000732053" "02327" "SOS1_000127" "g.39213258G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38986117G>C" "" "VUS" "" "0000348542" "0" "10" "2" "39241107" "39241107" "subst" "0.00750777" "02327" "SOS1_000115" "g.39241107G>A" "" "" "" "SOS1(NM_005633.3):c.1964C>T (p.P655L, p.(Pro655Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39013966G>A" "" "benign" "" "0000349089" "0" "90" "2" "39249927" "39249927" "subst" "0" "02327" "SOS1_000142" "g.39249927T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39022786T>G" "" "pathogenic" "" "0000349399" "0" "90" "2" "39278352" "39278352" "subst" "0" "02327" "SOS1_000150" "g.39278352G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39051211G>T" "" "pathogenic" "" "0000349483" "0" "30" "2" "39294873" "39294873" "subst" "0.000150282" "02327" "SOS1_000155" "g.39294873T>C" "" "" "" "SOS1(NM_005633.3):c.109A>G (p.T37A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39067732T>C" "" "likely benign" "" "0000349848" "0" "90" "2" "39239471" "39239471" "subst" "0" "02327" "SOS1_000132" "g.39239471C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39012330C>A" "" "pathogenic" "" "0000350177" "0" "90" "2" "39240664" "39240664" "subst" "0.00000407024" "02327" "SOS1_000134" "g.39240664A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39013523A>G" "" "pathogenic" "" "0000350752" "0" "30" "2" "39216456" "39216456" "subst" "0.000142873" "02327" "SOS1_000129" "g.39216456C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38989315C>T" "" "likely benign" "" "0000351165" "0" "30" "2" "39262348" "39262348" "subst" "0.00666952" "02327" "SOS1_000146" "g.39262348C>G" "" "" "" "SOS1(NM_005633.3):c.1074+5G>C (, p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39035207C>G" "" "likely benign" "" "0000351166" "0" "30" "2" "39285807" "39285807" "subst" "0.0000365922" "02327" "SOS1_000154" "g.39285807G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39058666G>A" "" "likely benign" "" "0000400807" "11" "30" "2" "39262361" "39262361" "subst" "0" "00006" "SOS1_000061" "g.39262361G>T" "" "{PMID:Abela 2016:26174906}" "" "" "" "Germline" "no" "" "0" "" "" "g.39035220G>T" "" "likely benign" "" "0000436819" "1" "95" "2" "0" "0" "" "0" "00000" "SOS1_000042" "g.?" "" "{PMID:Barroso 2003:14551916}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000436820" "0" "95" "2" "39294873" "39294873" "subst" "0.000150282" "00000" "SOS1_000034" "g.39294873T>C" "" "{PMID:Lepri et al 2011:21387466}" "" "" "aa change predicted to be benign by PolyPhen; aa change predicted to be tolerated by SIFT; variant at a conserved residue/ Original exon: 3" "Unknown" "" "" "0" "" "" "g.39067732T>C" "" "pathogenic" "" "0000436821" "21" "55" "2" "39285926" "39285926" "subst" "0.000113979" "00000" "SOS1_000051" "g.39285926A>C" "" "{PMID:Zenker 2007:17586837}" "" "" "possible polymorphism" "De novo" "" "" "0" "" "" "g.39058785A>C" "" "VUS" "" "0000436822" "1" "95" "2" "39285854" "39285854" "subst" "0" "00000" "SOS1_000057" "g.39285854G>C" "" "{PMID:Denayer 2010:19953625}" "" "" "" "Unknown" "" "" "0" "" "" "g.39058713G>C" "" "pathogenic" "" "0000436823" "0" "99" "2" "39285837" "39285837" "subst" "0" "00000" "SOS1_000001" "g.39285837C>T" "" "{PMID:Lepri et al 2011:21387466}" "" "" "Original exon: 4" "Unknown" "" "" "0" "" "" "g.39058696C>T" "" "pathogenic" "" "0000436824" "1" "95" "2" "39285837" "39285837" "subst" "0" "00000" "SOS1_000001" "g.39285837C>T" "" "{PMID:Tartaglia 2007:17143282}" "" "" "not in 310 control chromosomes" "Unknown" "" "" "0" "" "" "g.39058696C>T" "" "pathogenic" "" "0000436825" "1" "95" "2" "39285837" "39285837" "subst" "0" "00000" "SOS1_000001" "g.39285837C>T" "" "{PMID:Tartaglia 2007:17143282}" "" "" "not in 310 control chromosomes" "Unknown" "" "" "0" "" "" "g.39058696C>T" "" "pathogenic" "" "0000436826" "0" "97" "2" "39285824" "39285824" "subst" "0" "00000" "SOS1_000026" "g.39285824G>C" "" "{PMID:Lepri et al 2011:21387466}" "" "" "unavailable parent DNA samples; aa change predicted to be possibly damaging by PolyPhen; aa change predicted to tolerated by SIFT/ Original exon: 4" "Unknown" "" "" "0" "" "" "g.39058683G>C" "" "pathogenic" "" "0000436827" "0" "99" "2" "39283845" "39283845" "subst" "0" "00000" "SOS1_000002" "g.39283845T>C" "" "{PMID:Lepri et al 2011:21387466}" "" "" "Original exon: 5" "Unknown" "" "" "0" "" "" "g.39056704T>C" "" "pathogenic" "" "0000436828" "1" "95" "2" "39283845" "39283845" "subst" "0" "00000" "SOS1_000002" "g.39283845T>C" "" "{PMID:Ko 2008:19020799}" "" "" "" "Unknown" "" "" "0" "" "" "g.39056704T>C" "" "pathogenic" "" "0000436829" "0" "97" "2" "39278394" "39278394" "subst" "0.0000853284" "00000" "SOS1_000027" "g.39278394A>G" "" "{PMID:Lepri et al 2011:21387466}" "" "" "variant not occurring in over 300 population-matched unaffected subjects; aa change predicted to be probably damaging by PolyPhen; aa change predicted to affect protein function by SIFT; variant at a conserved residue/ Original exon: 7" "Unknown" "" "" "0" "" "" "g.39051253A>G" "" "pathogenic" "" "0000436830" "21" "75" "2" "39278394" "39278394" "subst" "0.0000853284" "03029" "SOS1_000027" "g.39278394A>G" "" "Moncini et al., submitted to European Journal of Human Genetics" "" "" "the consequences of the variant are functional" "Germline" "" "" "0" "" "" "g.39051253A>G" "" "likely pathogenic" "" "0000436831" "0" "99" "2" "39278352" "39278352" "subst" "0" "00000" "SOS1_000003" "g.39278352G>T" "" "{PMID:Lepri et al 2011:21387466}" "" "" "Original exon: 7" "Unknown" "" "" "0" "" "" "g.39051211G>T" "" "pathogenic" "" "0000436832" "1" "95" "2" "39278352" "39278352" "subst" "0" "00000" "SOS1_000003" "g.39278352G>T" "" "{PMID:Roberts 2007:17143285}, {OMIM182530:0002}" "" "" "" "Unknown" "" "" "0" "" "" "g.39051211G>T" "" "pathogenic" "" "0000436833" "1" "95" "2" "39278352" "39278352" "subst" "0" "00000" "SOS1_000003" "g.39278352G>T" "" "{PMID:Ferrero 2008:18678287}, {OMIM182530:0002}" "" "" "" "Unknown" "" "" "0" "" "" "g.39051211G>T" "" "pathogenic" "" "0000436834" "0" "99" "2" "39278343" "39278343" "subst" "0" "00000" "SOS1_000004" "g.39278343A>G" "" "{PMID:Lepri et al 2011:21387466}" "" "" "Original exon: 7" "Unknown" "" "" "0" "" "" "g.39051202A>G" "" "pathogenic" "" "0000436835" "1" "95" "2" "39278343" "39278343" "subst" "0" "00000" "SOS1_000004" "g.39278343A>G" "" "{PMID:Zenker 2007:17586837}" "" "" "" "De novo" "" "" "0" "" "" "g.39051202A>G" "" "pathogenic" "" "0000436836" "0" "99" "2" "39278343" "39278343" "subst" "0" "00000" "SOS1_000005" "g.39278343A>C" "" "{PMID:Lepri et al 2011:21387466}" "" "" "Original exon: 7" "Unknown" "" "" "0" "" "" "g.39051202A>C" "" "pathogenic" "" "0000436837" "1" "95" "2" "39278343" "39278343" "subst" "0" "00000" "SOS1_000005" "g.39278343A>C" "" "{PMID:Tartaglia 2007:17143282}, {OMIM182530:0003}" "" "" "not in 310 control chromosomes" "De novo" "" "" "0" "" "" "g.39051202A>C" "" "pathogenic" "" "0000436838" "1" "95" "2" "39278343" "39278343" "subst" "0" "00000" "SOS1_000005" "g.39278343A>C" "" "{PMID:Roberts 2007:17143285}, {OMIM182530:0003}" "" "" "" "Unknown" "" "" "0" "" "" "g.39051202A>C" "" "pathogenic" "" "0000436839" "1" "95" "2" "39278343" "39278343" "subst" "0" "00000" "SOS1_000005" "g.39278343A>C" "" "{PMID:Roberts 2007:17143285}, {OMIM182530:0003}" "" "" "" "Unknown" "" "" "0" "" "" "g.39051202A>C" "" "pathogenic" "" "0000436840" "1" "95" "2" "39278343" "39278343" "subst" "0" "00000" "SOS1_000005" "g.39278343A>C" "" "{PMID:Zenker 2007:17586837}" "" "" "" "De novo" "" "" "0" "" "" "g.39051202A>C" "" "pathogenic" "" "0000436841" "1" "95" "2" "39262581" "39262581" "subst" "0" "00000" "SOS1_000048" "g.39262581C>A" "" "{PMID:Roberts 2007:17143285}" "" "" "" "Unknown" "" "" "0" "" "" "g.39035440C>A" "" "pathogenic" "" "0000436842" "1" "95" "2" "39262581" "39262581" "subst" "0" "00000" "SOS1_000048" "g.39262581C>A" "" "{PMID:Zenker 2007:17586837}" "" "" "" "De novo" "" "" "0" "" "" "g.39035440C>A" "" "pathogenic" "" "0000436843" "1" "95" "2" "39262417" "39262417" "subst" "0.0000162524" "00000" "SOS1_000049" "g.39262417T>C" "" "{PMID:Roberts 2007:17143285}" "" "" "" "Germline" "" "" "0" "" "" "g.39035276T>C" "" "pathogenic" "" "0000436844" "0" "97" "2" "39250305" "39250305" "subst" "0" "00000" "SOS1_000028" "g.39250305T>C" "" "{PMID:Lepri et al 2011:21387466}" "" "" "aa change predicted to be probably damaging by PolyPhen; aa change predicted to tolerated by SIFT; variant at a conserved residue/ Original exon: 11" "Unknown" "" "" "0" "" "" "g.39023164T>C" "" "pathogenic" "" "0000436845" "0" "97" "2" "39250299" "39250299" "subst" "0.00000407521" "00000" "SOS1_000029" "g.39250299C>T" "" "{PMID:Lepri et al 2011:21387466}" "" "" "aa change predicted to be possibly damaging by PolyPhen; aa change predicted to affect protein function by SIFT; variant at a conserved residue/ Original exon: 11" "Unknown" "" "" "0" "" "" "g.39023158C>T" "" "pathogenic" "" "0000436846" "0" "99" "2" "39250281" "39250289" "del" "0" "00000" "SOS1_000006" "g.39250281_39250289del" "" "{PMID:Lepri et al 2011:21387466}" "" "c.1281_1289delGAATATTGA" "Original exon: 11" "Unknown" "" "" "0" "" "" "g.39023140_39023148del" "" "pathogenic" "" "0000436847" "0" "99" "2" "39250275" "39250275" "subst" "0" "00000" "SOS1_000007" "g.39250275A>G" "" "{PMID:Lepri et al 2011:21387466}" "" "" "Original exon: 11" "Unknown" "" "" "0" "" "" "g.39023134A>G" "" "pathogenic" "" "0000436848" "1" "95" "2" "39250275" "39250275" "subst" "0" "00000" "SOS1_000007" "g.39250275A>G" "" "{PMID:Tartaglia 2007:17143282}" "" "" "not in 310 control chromosomes" "Germline" "" "" "0" "" "" "g.39023134A>G" "" "pathogenic" "" "0000436849" "1" "95" "2" "39250275" "39250275" "subst" "0" "00000" "SOS1_000007" "g.39250275A>G" "" "{PMID:Zenker 2007:17586837}" "" "" "" "De novo" "" "" "0" "" "" "g.39023134A>G" "" "pathogenic" "" "0000436850" "1" "95" "2" "39250275" "39250275" "subst" "0" "00000" "SOS1_000007" "g.39250275A>G" "" "{PMID:Hanna 2009:19438935}" "" "" "" "Germline" "" "" "0" "" "" "g.39023134A>G" "" "pathogenic" "" "0000436851" "0" "99" "2" "39250270" "39250275" "del" "0" "00000" "SOS1_000008" "g.39250270_39250275del" "" "{PMID:Lepri et al 2011:21387466}" "" "c.1294_1299delTGGGAG" "variant not occurring in over 300 population-matched unaffected subjects; unavailable parent DNA samples/ Original exon: 11" "Unknown" "" "" "0" "" "" "g.39023129_39023134del" "" "pathogenic" "" "0000436852" "0" "99" "2" "39250272" "39250272" "subst" "0.00000407219" "00000" "SOS1_000009" "g.39250272C>T" "" "{PMID:Lepri et al 2011:21387466}" "" "" "Original exon: 11" "Unknown" "" "" "0" "" "" "g.39023131C>T" "" "pathogenic" "" "0000436853" "1" "95" "2" "39250272" "39250272" "subst" "0.00000407219" "00000" "SOS1_000009" "g.39250272C>T" "" "{PMID:Tartaglia 2007:17143282}" "" "" "not in 310 control chromosomes" "Unknown" "" "" "0" "" "" "g.39023131C>T" "" "pathogenic" "" "0000436854" "1" "95" "2" "39250272" "39250272" "subst" "0.00000407219" "00000" "SOS1_000009" "g.39250272C>T" "" "{PMID:Tartaglia 2007:17143282}" "" "" "not in 310 control chromosomes" "Unknown" "" "" "0" "" "" "g.39023131C>T" "" "pathogenic" "" "0000436855" "1" "95" "2" "39250272" "39250272" "subst" "0.00000407219" "00000" "SOS1_000009" "g.39250272C>T" "" "{PMID:Zenker 2007:17586837}" "" "" "" "De novo" "" "" "0" "" "" "g.39023131C>T" "" "pathogenic" "" "0000436856" "0" "99" "2" "39250269" "39250269" "subst" "0" "00000" "SOS1_000010" "g.39250269C>T" "" "{PMID:Lepri et al 2011:21387466}" "" "" "Original exon: 11" "Unknown" "" "" "0" "" "" "g.39023128C>T" "" "pathogenic" "" "0000436857" "1" "95" "2" "39250269" "39250269" "subst" "0" "00000" "SOS1_000010" "g.39250269C>T" "" "{PMID:Zenker 2007:17586837}" "" "" "" "De novo" "" "" "0" "" "" "g.39023128C>T" "" "pathogenic" "" "0000436858" "1" "95" "2" "39250269" "39250269" "subst" "0" "00000" "SOS1_000050" "g.39250269C>G" "" "{PMID:Roberts 2007:17143285}" "" "" "" "Unknown" "" "" "0" "" "" "g.39023128C>G" "" "pathogenic" "" "0000436859" "0" "99" "2" "39250268" "39250269" "delins" "0" "00000" "SOS1_000011" "g.39250268_39250269delinsTT" "" "{PMID:Lepri et al 2011:21387466}" "" "c.1300_1301delGGinsAA" "variant demonstrated to occur de novo by DNA genotyping of unaffected parents; aa change predicted to be possibly damaging by PolyPhen; aa change predicted to affect protein function by SIFT; variant at a conserved residue/ Original exon: 11" "Unknown" "" "" "0" "" "" "g.39023127_39023128delinsTT" "" "pathogenic" "" "0000436860" "0" "99" "2" "39250259" "39250259" "subst" "0" "00000" "SOS1_000012" "g.39250259A>G" "" "{PMID:Lepri et al 2011:21387466}" "" "" "variant demonstrated to occur de novo by DNA genotyping of unaffected parents; aa change predicted to be probably damaging by PolyPhen; aa change predicted to affect protein function by SIFT; variant at a conserved residue/ Original exon: 11" "Unknown" "" "" "0" "" "" "g.39023118A>G" "" "pathogenic" "" "0000436861" "0" "99" "2" "39250247" "39250247" "subst" "0" "00000" "SOS1_000013" "g.39250247C>T" "" "{PMID:Lepri et al 2011:21387466}" "" "" "Original exon: 11" "Unknown" "" "" "0" "" "" "g.39023106C>T" "" "pathogenic" "" "0000436862" "1" "95" "2" "39250247" "39250247" "subst" "0" "00000" "SOS1_000013" "g.39250247C>T" "" "{PMID:Tartaglia 2007:17143282}" "" "" "not in 310 control chromosomes" "De novo" "" "" "0" "" "" "g.39023106C>T" "" "pathogenic" "" "0000436863" "1" "95" "2" "39250247" "39250247" "subst" "0" "00000" "SOS1_000013" "g.39250247C>T" "" "{PMID:Zenker 2007:17586837}" "" "" "" "De novo" "" "" "0" "" "" "g.39023106C>T" "" "pathogenic" "" "0000436864" "0" "99" "2" "39250139" "39250139" "subst" "0" "00000" "SOS1_000014" "g.39250139T>C" "" "{PMID:Lepri et al 2011:21387466}" "" "" "aa change predicted to be benign by PolyPhen; aa change predicted to be tolerated by SIFT; variant at a conserved residue/ Original exon: 11" "Unknown" "" "" "0" "" "" "g.39022998T>C" "" "pathogenic" "" "0000436865" "1" "95" "2" "39250139" "39250139" "subst" "0" "00000" "SOS1_000014" "g.39250139T>C" "" "{PMID:Longoni 2010:20683980}" "" "" "" "Unknown" "" "" "0" "" "" "g.39022998T>C" "" "pathogenic" "" "0000436866" "1" "95" "2" "39250138" "39250138" "subst" "0" "00000" "SOS1_000052" "g.39250138C>A" "" "{PMID:Zenker 2007:17586837}" "" "" "2 de novo variants on same allele" "De novo" "" "" "0" "" "" "g.39022997C>A" "" "pathogenic" "" "0000436867" "0" "99" "2" "39250136" "39250136" "subst" "0" "00000" "SOS1_000015" "g.39250136G>C" "" "{PMID:Lepri et al 2011:21387466}" "" "" "Original exon: 11" "Unknown" "" "" "0" "" "" "g.39022995G>C" "" "pathogenic" "" "0000436868" "1" "95" "2" "39250136" "39250136" "subst" "0" "00000" "SOS1_000015" "g.39250136G>C" "" "{PMID:Zenker 2007:17586837}" "" "" "" "De novo" "" "" "0" "" "" "g.39022995G>C" "" "pathogenic" "" "0000436869" "0" "95" "2" "39250136" "39250136" "subst" "0" "00000" "SOS1_000035" "g.39250136G>A" "" "{PMID:Lepri et al 2011:21387466}" "" "" "aa change predicted to be possibly damaging by PolyPhen; aa change predicted to tolerated by SIFT; variant at a conserved residue/ Original exon: 11" "Unknown" "" "" "0" "" "" "g.39022995G>A" "" "pathogenic" "" "0000436870" "1" "95" "2" "39250136" "39250136" "subst" "0" "00000" "SOS1_000035" "g.39250136G>A" "" "{PMID:Zenker 2007:17586837}" "" "" "2 de novo variants on same allele" "De novo" "" "" "0" "" "" "g.39022995G>A" "" "pathogenic" "" "0000436871" "1" "95" "2" "39250129" "39250137" "dup" "0" "00000" "SOS1_000056" "g.39250129_39250137dup" "" "{PMID:Narumi 2008:18651097}" "" "" "" "Unknown" "" "" "0" "" "" "g.39022988_39022996dup" "" "pathogenic" "" "0000436872" "0" "97" "2" "39250125" "39250125" "subst" "0" "00000" "SOS1_000030" "g.39250125C>G" "" "{PMID:Lepri et al 2011:21387466}" "" "" "aa change predicted to be possibly damaging by PolyPhen; aa change predicted to affect protein function by SIFT; variant at a conserved residue/ Original exon: 11" "Unknown" "" "" "0" "" "" "g.39022984C>G" "" "pathogenic" "" "0000436873" "0" "97" "2" "39250100" "39250100" "subst" "0" "00000" "SOS1_000031" "g.39250100A>C" "" "{PMID:Lepri et al 2011:21387466}" "" "" "not in >300 population-matched unaffected subjects; unavailable parent DNA samples; aa change predicted probably damaging by PolyPhen, affect protein function by SIFT; conserved residue/ Original exon: 11" "Unknown" "" "" "0" "" "" "g.39022959A>C" "" "pathogenic" "" "0000436874" "0" "97" "2" "39250079" "39250079" "subst" "0.0000570218" "00000" "SOS1_000032" "g.39250079C>T" "" "{PMID:Lepri et al 2011:21387466}" "" "" "variant not occurring in over 300 population-matched unaffected subjects; aa change predicted to be possibly damaging by PolyPhen; aa change predicted to affect protein function by SIFT; variant at a conserved residue/ Original exon: 11" "Unknown" "" "" "0" "" "" "g.39022938C>T" "" "pathogenic" "" "0000436875" "1" "95" "2" "39250079" "39250079" "subst" "0.0000570218" "00000" "SOS1_000032" "g.39250079C>T" "" "{PMID:Longoni 2010:20683980}" "" "" "" "Unknown" "" "" "0" "" "" "g.39022938C>T" "" "pathogenic" "" "0000436876" "0" "99" "2" "39249927" "39249927" "subst" "0" "00000" "SOS1_000016" "g.39249927T>G" "" "{PMID:Lepri et al 2011:21387466}" "" "" "Original exon: 11" "Unknown" "" "" "0" "" "" "g.39022786T>G" "" "pathogenic" "" "0000436877" "1" "95" "2" "39249927" "39249927" "subst" "0" "00000" "SOS1_000016" "g.39249927T>G" "" "{PMID:Tartaglia 2007:17143282}" "" "" "not in 310 control chromosomes" "De novo" "" "" "0" "" "" "g.39022786T>G" "" "pathogenic" "" "0000436878" "1" "95" "2" "39249927" "39249927" "subst" "0" "00000" "SOS1_000016" "g.39249927T>G" "" "{PMID:Tartaglia 2007:17143282}" "" "" "not in 310 control chromosomes" "De novo" "" "" "0" "" "" "g.39022786T>G" "" "pathogenic" "" "0000436879" "1" "95" "2" "39249927" "39249927" "subst" "0" "00000" "SOS1_000016" "g.39249927T>G" "" "{PMID:Roberts 2007:17143285}" "" "" "" "Unknown" "" "" "0" "" "" "g.39022786T>G" "" "pathogenic" "" "0000436880" "1" "95" "2" "39249925" "39249925" "subst" "0" "00000" "SOS1_000059" "g.39249925A>C" "" "{PMID:Hastings 2010:20607846}" "" "" "" "Unknown" "" "" "0" "" "" "g.39022784A>C" "" "pathogenic" "" "0000436881" "0" "97" "2" "39249923" "39249923" "subst" "0" "00000" "SOS1_000033" "g.39249923G>T" "" "{PMID:Lepri et al 2011:21387466}" "" "" "aa change predicted to be possibly damaging by PolyPhen; aa change predicted to tolerated by SIFT; variant at a conserved residue/ Original exon: 11" "Unknown" "" "" "0" "" "" "g.39022782G>T" "" "pathogenic" "" "0000436882" "1" "95" "2" "39249920" "39249920" "subst" "0" "00000" "SOS1_000043" "g.39249920A>G" "" "{PMID:Tartaglia 2007:17143282}" "" "" "not in 310 control chromosomes" "Germline" "" "" "0" "" "" "g.39022779A>G" "" "pathogenic" "" "0000436883" "0" "99" "2" "39249915" "39249915" "subst" "0.0000040707" "00000" "SOS1_000017" "g.39249915T>C" "" "{PMID:Lepri et al 2011:21387466}" "" "" "Original exon: 11" "Unknown" "" "" "0" "" "" "g.39022774T>C" "" "pathogenic" "" "0000436884" "1" "95" "2" "39249915" "39249915" "subst" "0.0000040707" "00000" "SOS1_000017" "g.39249915T>C" "" "{PMID:Tartaglia 2007:17143282}, {OMIM182530:0004}" "" "" "not in 310 control chromosomes" "De novo" "" "" "0" "" "" "g.39022774T>C" "" "pathogenic" "" "0000436885" "1" "95" "2" "39249915" "39249915" "subst" "0.0000040707" "00000" "SOS1_000017" "g.39249915T>C" "" "{PMID:Tartaglia 2007:17143282}, {OMIM182530:0004}" "" "" "not in 310 control chromosomes" "De novo" "" "" "0" "" "" "g.39022774T>C" "" "pathogenic" "" "0000436886" "1" "95" "2" "39249915" "39249915" "subst" "0.0000040707" "00000" "SOS1_000017" "g.39249915T>C" "" "{PMID:Tartaglia 2007:17143282}, {OMIM182530:0004}" "" "" "not in 310 control chromosomes" "De novo" "" "" "0" "" "" "g.39022774T>C" "" "pathogenic" "" "0000436887" "1" "95" "2" "39249915" "39249915" "subst" "0.0000040707" "00000" "SOS1_000017" "g.39249915T>C" "" "{PMID:Tartaglia 2007:17143282}, {OMIM182530:0004}" "" "" "not in 310 control chromosomes" "De novo" "" "" "0" "" "" "g.39022774T>C" "" "pathogenic" "" "0000436888" "1" "95" "2" "39249915" "39249915" "subst" "0.0000040707" "00000" "SOS1_000017" "g.39249915T>C" "" "{PMID:Tartaglia 2007:17143282}, {OMIM182530:0004}" "" "" "not in 310 control chromosomes" "De novo" "" "" "0" "" "" "g.39022774T>C" "" "pathogenic" "" "0000436889" "1" "95" "2" "39249915" "39249915" "subst" "0.0000040707" "00000" "SOS1_000017" "g.39249915T>C" "" "{PMID:Roberts 2007:17143285}, {OMIM182530:0004}" "" "" "" "Germline" "" "" "0" "" "" "g.39022774T>C" "" "pathogenic" "" "0000436890" "1" "95" "2" "39249915" "39249915" "subst" "0.0000040707" "00000" "SOS1_000017" "g.39249915T>C" "" "{PMID:Roberts 2007:17143285}, {OMIM182530:0004}" "" "" "" "Germline" "" "" "0" "" "" "g.39022774T>C" "" "pathogenic" "" "0000436891" "21" "95" "2" "39249915" "39249915" "subst" "0.0000040707" "00000" "SOS1_000017" "g.39249915T>C" "" "{PMID:Zenker 2007:17586837}" "" "" "" "Unknown" "" "" "0" "" "" "g.39022774T>C" "" "pathogenic" "" "0000436892" "21" "95" "2" "39249915" "39249915" "subst" "0.0000040707" "00000" "SOS1_000017" "g.39249915T>C" "" "{PMID:Zenker 2007:17586837}" "" "" "" "Unknown" "" "" "0" "" "" "g.39022774T>C" "" "pathogenic" "" "0000436893" "21" "95" "2" "39249915" "39249915" "subst" "0.0000040707" "00000" "SOS1_000017" "g.39249915T>C" "" "{PMID:Zenker 2007:17586837}" "" "" "" "Germline" "" "" "0" "" "" "g.39022774T>C" "" "pathogenic" "" "0000436894" "0" "99" "2" "39249914" "39249914" "subst" "0" "00000" "SOS1_000018" "g.39249914C>T" "" "{PMID:Lepri et al 2011:21387466}" "" "" "Original exon: 11" "Unknown" "" "" "0" "" "" "g.39022773C>T" "" "pathogenic" "" "0000436895" "1" "95" "2" "39249914" "39249914" "subst" "0" "00000" "SOS1_000018" "g.39249914C>T" "" "{PMID:Tartaglia 2007:17143282}" "" "" "not in 310 control chromosomes" "De novo" "" "" "0" "" "" "g.39022773C>T" "" "pathogenic" "" "0000436896" "1" "95" "2" "39249914" "39249914" "subst" "0" "00000" "SOS1_000018" "g.39249914C>T" "" "{PMID:Zenker 2007:17586837}" "" "" "" "De novo" "" "" "0" "" "" "g.39022773C>T" "" "pathogenic" "" "0000436897" "1" "95" "2" "39249914" "39249914" "subst" "0" "00000" "SOS1_000018" "g.39249914C>T" "" "{PMID:Zenker 2007:17586837}" "" "" "" "Germline" "" "" "0" "" "" "g.39022773C>T" "" "pathogenic" "" "0000436898" "0" "99" "2" "39249914" "39249914" "subst" "0" "00000" "SOS1_000020" "g.39249914C>G" "" "{PMID:Lepri et al 2011:21387466}" "" "" "Original exon: 11" "Unknown" "" "" "0" "" "" "g.39022773C>G" "" "pathogenic" "" "0000436899" "1" "95" "2" "39249914" "39249914" "subst" "0" "00000" "SOS1_000020" "g.39249914C>G" "" "{PMID:Beneteau 2009:19352411}" "" "" "" "Unknown" "" "" "0" "" "" "g.39022773C>G" "" "pathogenic" "" "0000436900" "0" "99" "2" "39249914" "39249914" "subst" "0.000004071" "00000" "SOS1_000019" "g.39249914C>A" "" "{PMID:Lepri et al 2011:21387466}" "" "" "unavailable parent DNA samples; aa change predicted to be probably damaging by PolyPhen; aa change predicted to affect protein function by SIFT; variant at a conserved residue/ Original exon: 11" "Unknown" "" "" "0" "" "" "g.39022773C>A" "" "pathogenic" "" "0000436901" "0" "99" "2" "39249913" "39249913" "subst" "0" "00000" "SOS1_000021" "g.39249913C>G" "" "{PMID:Lepri et al 2011:21387466}" "" "" "Original exon: 11" "Unknown" "" "" "0" "" "" "g.39022772C>G" "" "pathogenic" "" "0000436902" "1" "95" "2" "39249913" "39249913" "subst" "0" "00000" "SOS1_000021" "g.39249913C>G" "" "{PMID:Tartaglia 2007:17143282}" "" "" "not in 310 control chromosomes" "De novo" "" "" "0" "" "" "g.39022772C>G" "" "pathogenic" "" "0000436903" "1" "95" "2" "39249913" "39249913" "subst" "0" "00000" "SOS1_000021" "g.39249913C>G" "" "{PMID:Tartaglia 2007:17143282}" "" "" "not in 310 control chromosomes" "De novo" "" "" "0" "" "" "g.39022772C>G" "" "pathogenic" "" "0000436904" "1" "95" "2" "39249913" "39249913" "subst" "0" "00000" "SOS1_000053" "g.39249913C>A" "" "{PMID:Zenker 2007:17586837}" "" "" "" "De novo" "" "" "0" "" "" "g.39022772C>A" "" "pathogenic" "" "0000436905" "1" "95" "2" "39249913" "39249913" "subst" "0" "00000" "SOS1_000053" "g.39249913C>A" "" "{PMID:Zenker 2007:17586837}" "" "" "" "Germline" "" "" "0" "" "" "g.39022772C>A" "" "pathogenic" "" "0000436906" "1" "95" "2" "39249913" "39249913" "subst" "0" "00000" "SOS1_000053" "g.39249913C>A" "" "{PMID:Mascheroni 2008:18925667}, {OMIM182530:0005}" "" "" "" "De novo" "" "" "0" "" "" "g.39022772C>A" "" "pathogenic" "" "0000436907" "0" "99" "2" "39249896" "39249909" "delins" "0" "00000" "SOS1_000022" "g.39249896_39249909delinsTT" "" "{PMID:Lepri et al 2011:21387466}" "" "" "Original exon: 11" "Unknown" "" "" "0" "" "" "g.39022755_39022768delinsTT" "" "pathogenic" "" "0000436908" "1" "95" "2" "39241979" "39241979" "subst" "0" "00000" "SOS1_000054" "g.39241979A>T" "" "{PMID:Zenker 2007:17586837}" "" "" "" "De novo" "" "" "0" "" "" "g.39014838A>T" "" "pathogenic" "" "0000436909" "1" "15" "2" "39241107" "39241107" "subst" "0.00750777" "00000" "SOS1_000040" "g.39241107G>A" "" "{PMID:Tartaglia 2007:17143282}" "" "" "" "Unknown" "" "" "0" "" "" "g.39013966G>A" "" "benign" "" "0000436910" "1" "15" "2" "39241107" "39241107" "subst" "0.00750777" "00000" "SOS1_000040" "g.39241107G>A" "1/310" "{PMID:Tartaglia 2007:17143282}" "" "" "1/310 control chromosomes" "Unknown" "" "" "0" "" "" "g.39013966G>A" "" "benign" "" "0000436911" "0" "55" "2" "39241107" "39241107" "subst" "0.00750777" "00000" "SOS1_000040" "g.39241107G>A" "" "" "" "" "" "Unknown" "" "rs56219475" "0" "" "" "g.39013966G>A" "" "VUS" "" "0000436912" "1" "55" "2" "39241107" "39241107" "subst" "0.00750777" "00000" "SOS1_000040" "g.39241107G>A" "" "{PMID:Roberts 2007:17143285}" "" "" "" "Germline" "" "" "0" "" "" "g.39013966G>A" "" "VUS" "" "0000436913" "1" "15" "2" "39241107" "39241107" "subst" "0.00750777" "00000" "SOS1_000040" "g.39241107G>A" "" "{PMID:Zenker 2007:17586837}" "" "" "found in 4 sporadic cases" "Unknown" "" "" "0" "" "" "g.39013966G>A" "" "benign" "" "0000436914" "1" "15" "2" "39241107" "39241107" "subst" "0.00750777" "00000" "SOS1_000040" "g.39241107G>A" "" "Gunnar Houge (Bergen, Norway)" "" "" "found in patient with pathogenic PTPN11 variant" "Unknown" "" "" "0" "" "" "g.39013966G>A" "" "benign" "" "0000436915" "1" "15" "2" "39241107" "39241107" "subst" "0.00750777" "00000" "SOS1_000040" "g.39241107G>A" "4/380" "Gunnar Houge (Bergen, Norway)" "" "" "380 control chromosomes tested" "Unknown" "" "" "0" "" "" "g.39013966G>A" "" "benign" "" "0000436916" "1" "15" "2" "39241107" "39241107" "subst" "0.00750777" "00000" "SOS1_000040" "g.39241107G>A" "1/380" "Gunnar Houge (Bergen, Norway)" "" "" "381 control chromosomes tested" "Unknown" "" "" "0" "" "" "g.39013966G>A" "" "benign" "" "0000436917" "2" "15" "2" "39241107" "39241107" "subst" "0.00750777" "00000" "SOS1_000040" "g.39241107G>A" "1/380" "Gunnar Houge (Bergen, Norway)" "" "" "382 control chromosomes tested" "Unknown" "" "" "0" "" "" "g.39013966G>A" "" "benign" "" "0000436918" "1" "95" "2" "39240664" "39240664" "subst" "0.00000407024" "00000" "SOS1_000044" "g.39240664A>G" "" "{PMID:Tartaglia 2007:17143282}" "" "" "not in 310 control chromosomes" "Germline" "" "" "0" "" "" "g.39013523A>G" "" "pathogenic" "" "0000436919" "1" "95" "2" "39240664" "39240664" "subst" "0.00000407024" "00000" "SOS1_000044" "g.39240664A>G" "" "{PMID:Zenker 2007:17586837}" "" "" "" "De novo" "" "" "0" "" "" "g.39013523A>G" "" "pathogenic" "" "0000436920" "1" "95" "2" "39239474" "39239474" "subst" "0" "00000" "SOS1_000058" "g.39239474T>A" "" "{PMID:Jongmans 2010:20461756}" "" "" "" "Unknown" "" "" "0" "" "" "g.39012333T>A" "" "pathogenic" "" "0000436921" "1" "95" "2" "39239471" "39239471" "subst" "0" "00000" "SOS1_000045" "g.39239471C>A" "" "{PMID:Tartaglia 2007:17143282}" "" "" "not in 310 control chromosomes" "De novo" "" "" "0" "" "" "g.39012330C>A" "" "pathogenic" "" "0000436922" "0" "99" "2" "39239460" "39239460" "subst" "0" "00000" "SOS1_000023" "g.39239460T>A" "" "{PMID:Lepri et al 2011:21387466}" "" "" "Original exon: 15" "Unknown" "" "" "0" "" "" "g.39012319T>A" "" "pathogenic" "" "0000436923" "1" "95" "2" "39239460" "39239460" "subst" "0" "00000" "SOS1_000023" "g.39239460T>A" "" "{PMID:Tartaglia 2007:17143282}" "" "" "not in 310 control chromosomes" "De novo" "" "" "0" "" "" "g.39012319T>A" "" "pathogenic" "" "0000436924" "0" "95" "2" "39239306" "39239306" "subst" "0" "00000" "SOS1_000036" "g.39239306A>G" "" "{PMID:Lepri et al 2011:21387466}" "" "" "aa change predicted to be probably damaging by PolyPhen; aa change predicted to affect protein function by SIFT; variant at a conserved residue; variant concomitant with the disease-causing p.Met269Arg change/ Original exon: 15" "Unknown" "" "" "0" "" "" "g.39012165A>G" "" "pathogenic" "" "0000436925" "0" "99" "2" "39234309" "39234309" "subst" "0" "00000" "SOS1_000024" "g.39234309C>T" "" "{PMID:Lepri et al 2011:21387466}" "" "" "Original exon: 17" "Unknown" "" "" "0" "" "" "g.39007168C>T" "" "pathogenic" "" "0000436926" "1" "95" "2" "39234309" "39234309" "subst" "0" "00000" "SOS1_000024" "g.39234309C>T" "" "{PMID:Tartaglia 2007:17143282}" "" "" "not in 310 control chromosomes" "Unknown" "" "" "0" "" "" "g.39007168C>T" "" "pathogenic" "" "0000436927" "1" "95" "2" "39234309" "39234309" "subst" "0" "00000" "SOS1_000024" "g.39234309C>T" "" "{PMID:Roberts 2007:17143285}" "" "" "" "Germline" "" "" "0" "" "" "g.39007168C>T" "" "pathogenic" "" "0000436928" "1" "95" "2" "39234309" "39234309" "subst" "0" "00000" "SOS1_000024" "g.39234309C>T" "" "{PMID:Roberts 2007:17143285}" "" "" "" "Unknown" "" "" "0" "" "" "g.39007168C>T" "" "pathogenic" "" "0000436929" "1" "95" "2" "39234309" "39234309" "subst" "0" "00000" "SOS1_000024" "g.39234309C>T" "" "{PMID:Roberts 2007:17143285}" "" "" "" "Unknown" "" "" "0" "" "" "g.39007168C>T" "" "pathogenic" "" "0000436930" "1" "95" "2" "39234309" "39234309" "subst" "0" "00000" "SOS1_000024" "g.39234309C>T" "" "{PMID:Zenker 2007:17586837}" "" "" "" "Unknown" "" "" "0" "" "" "g.39007168C>T" "" "pathogenic" "" "0000436931" "1" "95" "2" "39234309" "39234309" "subst" "0" "00000" "SOS1_000024" "g.39234309C>T" "" "{PMID:Zenker 2007:17586837}" "" "" "" "Unknown" "" "" "0" "" "" "g.39007168C>T" "" "pathogenic" "" "0000436932" "1" "95" "2" "39234309" "39234309" "subst" "0" "00000" "SOS1_000024" "g.39234309C>T" "" "{PMID:Zenker 2007:17586837}" "" "" "" "Unknown" "" "" "0" "" "" "g.39007168C>T" "" "pathogenic" "" "0000436933" "1" "95" "2" "39234309" "39234309" "subst" "0" "00000" "SOS1_000024" "g.39234309C>T" "" "{PMID:Zenker 2007:17586837}" "" "" "" "Unknown" "" "" "0" "" "" "g.39007168C>T" "" "pathogenic" "" "0000436934" "0" "99" "2" "39233663" "39233663" "subst" "0" "00000" "SOS1_000025" "g.39233663G>C" "" "{PMID:Lepri et al 2011:21387466}" "" "" "variant not occurring in over 300 population-matched unaffected subjects; aa change predicted to be possibly damaging by PolyPhen; aa change predicted to tolerated by SIFT; variant at a conserved residue/ Original exon: 18" "Unknown" "" "" "0" "" "" "g.39006522G>C" "" "pathogenic" "" "0000436935" "1" "15" "2" "39224428" "39224428" "subst" "0" "00000" "SOS1_000046" "g.39224428T>C" "" "{PMID:Tartaglia 2007:17143282}" "" "" "not in 310 control chromosomes" "Unknown" "" "" "0" "" "" "g.38997287T>C" "" "benign" "" "0000436936" "11" "35" "2" "39224145" "39224145" "subst" "0" "00000" "SOS1_000055" "g.39224145C>T" "" "{PMID:Zenker 2007:17586837}" "" "" "probable polymorphism" "De novo" "" "" "0" "" "" "g.38997004C>T" "" "likely benign" "" "0000436937" "1" "95" "2" "39222363" "39222363" "dup" "0" "00000" "SOS1_000041" "g.39222363dup" "" "{PMID:Hart 2002:11868160}, {OMIM182530:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.38995222dup" "" "pathogenic" "" "0000436938" "0" "95" "2" "39214732" "39214732" "subst" "0.00000855805" "00000" "SOS1_000037" "g.39214732C>T" "" "{PMID:Lepri et al 2011:21387466}" "" "" "aa change predicted to be benign by PolyPhen; aa change predicted to be tolerated by SIFT; variant at a conserved residue/ Original exon: 23" "Unknown" "" "" "0" "" "" "g.38987591C>T" "" "pathogenic" "" "0000436939" "0" "95" "2" "39214706" "39214706" "subst" "0.0000210174" "00000" "SOS1_000038" "g.39214706A>T" "" "{PMID:Lepri et al 2011:21387466}" "" "" "aa change predicted to be benign by PolyPhen; aa change predicted to be tolerated by SIFT; variant at a conserved residue/ Original exon: 23" "Unknown" "" "" "0" "" "" "g.38987565A>T" "" "pathogenic" "" "0000436940" "0" "95" "2" "39213198" "39213198" "subst" "0.0000284921" "00000" "SOS1_000039" "g.39213198T>C" "" "{PMID:Lepri et al 2011:21387466}" "" "" "aa change predicted to be benign by PolyPhen; aa change predicted to be tolerated by SIFT; variant at a conserved residue/ Original exon: 24" "Unknown" "" "" "0" "" "" "g.38986057T>C" "" "pathogenic" "" "0000436941" "1" "35" "2" "39213008" "39213008" "subst" "0" "00000" "SOS1_000047" "g.39213008T>C" "" "{PMID:Tartaglia 2007:17143282}" "" "" "not in 310 control chromosomes; possible polymorphism (or invcomplete penetrance)" "Unknown" "" "" "0" "" "" "g.38985867T>C" "" "likely benign" "" "0000438771" "0" "90" "2" "39249915" "39249915" "subst" "0.0000040707" "01164" "SOS1_000017" "g.39249915T>C" "" "" "" "" "ACMG grading: PM1,PM5,PM2,PP3,PS2; Calcagni ; 2016. Am J Med Genet A 170: 665 Noonan syndrome with coronary artery ectasia Tartaglia ; 2007. Nat Genet 39: 75 identified in PTPN11 and KRAS negative patient with Noonan syndrome Tafazoli ; 2017. Adv Med Sci 63: 87 confirmed de novo status in patient with Noonan syndrome" "Germline" "" "rs137852814" "0" "" "" "g.39022774T>C" "" "pathogenic" "ACMG" "0000438842" "0" "50" "2" "39347500" "39347500" "subst" "0.0000407107" "01164" "SOS1_000156" "g.39347500G>C" "" "" "" "" "" "Germline" "" "rs773916713" "0" "" "" "g.39120359G>C" "" "VUS" "ACMG" "0000515782" "0" "30" "2" "39216404" "39216404" "subst" "0.000725725" "01943" "SOS1_000104" "g.39216404T>C" "" "" "" "SOS1(NM_005633.3):c.3391+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38989263T>C" "" "likely benign" "" "0000515784" "0" "30" "2" "39224145" "39224145" "subst" "0" "01804" "SOS1_000055" "g.39224145C>T" "" "" "" "SOS1(NM_005633.3):c.2999G>A (p.(Ser1000Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38997004C>T" "" "likely benign" "" "0000515785" "0" "30" "2" "39224148" "39224148" "subst" "0.00000814379" "02326" "SOS1_000157" "g.39224148T>C" "" "" "" "SOS1(NM_005633.3):c.2996A>G (p.(Asn999Ser), p.N999S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38997007T>C" "" "likely benign" "" "0000515786" "0" "30" "2" "39234158" "39234158" "subst" "0.00201089" "02327" "SOS1_000110" "g.39234158A>G" "" "" "" "SOS1(NM_005633.3):c.2673+14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39007017A>G" "" "likely benign" "" "0000515787" "0" "50" "2" "39239286" "39239286" "subst" "0.000586052" "01943" "SOS1_000158" "g.39239286G>T" "" "" "" "SOS1(NM_005633.3):c.2371C>A (p.L791I, p.(Leu791Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39012145G>T" "" "VUS" "" "0000515788" "0" "30" "2" "39239286" "39239286" "subst" "0.000586052" "01804" "SOS1_000158" "g.39239286G>T" "" "" "" "SOS1(NM_005633.3):c.2371C>A (p.L791I, p.(Leu791Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39012145G>T" "" "likely benign" "" "0000515789" "0" "50" "2" "39239286" "39239286" "subst" "0.000586052" "02325" "SOS1_000158" "g.39239286G>T" "" "" "" "SOS1(NM_005633.3):c.2371C>A (p.L791I, p.(Leu791Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39012145G>T" "" "VUS" "" "0000515790" "0" "50" "2" "39239450" "39239450" "subst" "0" "02327" "SOS1_000159" "g.39239450A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39012309A>C" "" "VUS" "" "0000515791" "0" "10" "2" "39240595" "39240595" "subst" "0.00110216" "02330" "SOS1_000113" "g.39240595A>C" "" "" "" "SOS1(NM_005633.3):c.2167+6T>G (, p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39013454A>C" "" "benign" "" "0000515792" "0" "10" "2" "39240595" "39240595" "dup" "0" "02330" "SOS1_000160" "g.39240595dup" "" "" "" "SOS1(NM_005633.3):c.2167+16dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39013454dup" "" "benign" "" "0000515793" "0" "30" "2" "39240595" "39240595" "dup" "0" "02329" "SOS1_000160" "g.39240595dup" "" "" "" "SOS1(NM_005633.3):c.2167+16dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39013454dup" "" "likely benign" "" "0000515794" "0" "50" "2" "39240663" "39240663" "subst" "0.00000814007" "02327" "SOS1_000161" "g.39240663T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39013522T>C" "" "VUS" "" "0000515795" "0" "30" "2" "39249864" "39249864" "subst" "0.00032153" "02327" "SOS1_000117" "g.39249864G>C" "" "" "" "SOS1(NM_005633.3):c.1705C>G (p.L569V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39022723G>C" "" "likely benign" "" "0000515796" "0" "90" "2" "39249913" "39249913" "subst" "0" "02327" "SOS1_000021" "g.39249913C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39022772C>G" "" "pathogenic" "" "0000515797" "0" "90" "2" "39250259" "39250259" "subst" "0" "02327" "SOS1_000012" "g.39250259A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39023118A>G" "" "pathogenic" "" "0000515798" "0" "70" "2" "39250275" "39250275" "subst" "0" "02327" "SOS1_000162" "g.39250275A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39023134A>T" "" "likely pathogenic" "" "0000515799" "0" "10" "2" "39262348" "39262348" "subst" "0.00666952" "02330" "SOS1_000146" "g.39262348C>G" "" "" "" "SOS1(NM_005633.3):c.1074+5G>C (, p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39035207C>G" "" "benign" "" "0000515800" "0" "30" "2" "39262348" "39262348" "subst" "0.00666952" "01804" "SOS1_000146" "g.39262348C>G" "" "" "" "SOS1(NM_005633.3):c.1074+5G>C (, p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39035207C>G" "" "likely benign" "" "0000515801" "0" "30" "2" "39262348" "39262348" "subst" "0.00666952" "02326" "SOS1_000146" "g.39262348C>G" "" "" "" "SOS1(NM_005633.3):c.1074+5G>C (, p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39035207C>G" "" "likely benign" "" "0000515802" "0" "10" "2" "39262348" "39262348" "subst" "0.00666952" "02329" "SOS1_000146" "g.39262348C>G" "" "" "" "SOS1(NM_005633.3):c.1074+5G>C (, p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39035207C>G" "" "benign" "" "0000515803" "0" "30" "2" "39278328" "39278328" "subst" "0" "01804" "SOS1_000163" "g.39278328C>A" "" "" "" "SOS1(NM_005633.3):c.821G>T (p.(Ser274Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39051187C>A" "" "likely benign" "" "0000515804" "0" "50" "2" "39281904" "39281904" "subst" "0" "02327" "SOS1_000164" "g.39281904C>T" "" "" "" "SOS1(NM_005633.3):c.571G>A (p.E191K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39054763C>T" "" "VUS" "" "0000515805" "0" "10" "2" "39281905" "39281905" "subst" "0.00245781" "02330" "SOS1_000123" "g.39281905G>A" "" "" "" "SOS1(NM_005633.3):c.570C>T (p.D190=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39054764G>A" "" "benign" "" "0000515806" "0" "30" "2" "39281905" "39281905" "subst" "0.00245781" "01943" "SOS1_000123" "g.39281905G>A" "" "" "" "SOS1(NM_005633.3):c.570C>T (p.D190=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39054764G>A" "" "likely benign" "" "0000515807" "0" "70" "2" "39281963" "39281963" "subst" "0" "02330" "SOS1_000165" "g.39281963A>C" "" "" "" "SOS1(NM_005633.3):c.512T>G (p.V171G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39054822A>C" "" "likely pathogenic" "" "0000515808" "0" "70" "2" "39283845" "39283845" "subst" "0" "01804" "SOS1_000002" "g.39283845T>C" "" "" "" "SOS1(NM_005633.3):c.508A>G (p.(Lys170Glu), p.K170E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39056704T>C" "" "likely pathogenic" "" "0000515809" "0" "90" "2" "39283845" "39283845" "subst" "0" "02325" "SOS1_000002" "g.39283845T>C" "" "" "" "SOS1(NM_005633.3):c.508A>G (p.(Lys170Glu), p.K170E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39056704T>C" "" "pathogenic" "" "0000515810" "0" "70" "2" "39285836" "39285836" "subst" "0" "02329" "SOS1_000166" "g.39285836T>C" "" "" "" "SOS1(NM_005633.3):c.323A>G (p.E108G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39058695T>C" "" "likely pathogenic" "" "0000515811" "0" "30" "2" "39285876" "39285876" "subst" "0" "02327" "SOS1_000167" "g.39285876C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39058735C>T" "" "likely benign" "" "0000515812" "0" "30" "2" "39294756" "39294758" "del" "0" "02330" "SOS1_000168" "g.39294756_39294758del" "" "" "" "SOS1(NM_005633.3):c.213+14_213+16delTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39067615_39067617del" "" "likely benign" "" "0000515813" "0" "10" "2" "39294787" "39294787" "subst" "0.0119057" "02330" "SOS1_000125" "g.39294787T>G" "" "" "" "SOS1(NM_005633.3):c.195A>C (p.R65=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39067646T>G" "" "benign" "" "0000515814" "0" "50" "2" "39294845" "39294845" "subst" "0" "02327" "SOS1_000169" "g.39294845T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39067704T>A" "" "VUS" "" "0000515815" "0" "30" "2" "39294873" "39294873" "subst" "0.000150282" "01943" "SOS1_000034" "g.39294873T>C" "" "" "" "SOS1(NM_005633.3):c.109A>G (p.T37A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39067732T>C" "" "likely benign" "" "0000515816" "0" "30" "2" "39347467" "39347467" "subst" "0" "02330" "SOS1_000170" "g.39347467T>C" "" "" "" "SOS1(NM_005633.3):c.87+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39120326T>C" "" "likely benign" "" "0000592567" "0" "70" "2" "39216456" "39216456" "subst" "0.000142873" "00006" "SOS1_000129" "g.39216456C>T" "" "{DOI:Fischer-Zirnsak 2019:10.1016/j.ajhg.2019.07.002}" "" "" "" "Germline" "" "rs141565234" "0" "" "" "g.38989315C>T" "" "VUS" "" "0000607921" "0" "30" "2" "39213198" "39213198" "subst" "0.0000284921" "02327" "SOS1_000039" "g.39213198T>C" "" "" "" "SOS1(NM_005633.3):c.3769A>G (p.T1257A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38986057T>C" "" "likely benign" "" "0000607922" "0" "30" "2" "39224112" "39224112" "subst" "0.00181332" "01804" "SOS1_000106" "g.39224112T>C" "" "" "" "SOS1(NM_005633.3):c.3032A>G (p.N1011S, p.(Asn1011Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38996971T>C" "" "likely benign" "" "0000607923" "0" "10" "2" "39224156" "39224156" "subst" "0.000318025" "02330" "SOS1_000172" "g.39224156C>T" "" "" "" "SOS1(NM_005633.3):c.2988G>A (p.P996=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38997015C>T" "" "benign" "" "0000607924" "0" "70" "2" "39224464" "39224464" "subst" "0" "02327" "SOS1_000173" "g.39224464G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38997323G>C" "" "likely pathogenic" "" "0000607925" "0" "30" "2" "39233686" "39233686" "del" "0" "02327" "SOS1_000174" "g.39233686del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39006545del" "" "likely benign" "" "0000607926" "0" "30" "2" "39241107" "39241107" "subst" "0.00750777" "01804" "SOS1_000040" "g.39241107G>A" "" "" "" "SOS1(NM_005633.3):c.1964C>T (p.P655L, p.(Pro655Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39013966G>A" "" "likely benign" "" "0000607927" "0" "50" "2" "39241981" "39241981" "subst" "0.00000407222" "02327" "SOS1_000176" "g.39241981T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39014840T>C" "" "VUS" "" "0000607928" "0" "90" "2" "39249920" "39249920" "subst" "0" "02327" "SOS1_000043" "g.39249920A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39022779A>G" "" "pathogenic" "" "0000607929" "0" "50" "2" "39249956" "39249956" "subst" "0" "02327" "SOS1_000178" "g.39249956A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39022815A>G" "" "VUS" "" "0000607930" "0" "90" "2" "39250275" "39250275" "subst" "0" "02325" "SOS1_000007" "g.39250275A>G" "" "" "" "SOS1(NM_005633.3):c.1294T>C (p.W432R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39023134A>G" "" "pathogenic" "" "0000607931" "0" "30" "2" "39262409" "39262409" "subst" "0.0000853284" "02327" "SOS1_000179" "g.39262409G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39035268G>A" "" "likely benign" "" "0000607932" "0" "50" "2" "39262442" "39262442" "subst" "0.00000406626" "02327" "SOS1_000180" "g.39262442C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39035301C>T" "" "VUS" "" "0000607933" "0" "70" "2" "39285854" "39285854" "subst" "0" "02327" "SOS1_000057" "g.39285854G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39058713G>C" "" "likely pathogenic" "" "0000607934" "0" "50" "2" "39294813" "39294813" "subst" "0.0000203098" "02327" "SOS1_000181" "g.39294813T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39067672T>A" "" "VUS" "" "0000621037" "0" "30" "2" "39213367" "39213367" "subst" "0.000154426" "01943" "SOS1_000128" "g.39213367G>C" "" "" "" "SOS1(NM_005633.3):c.3600C>G (p.D1200E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38986226G>C" "" "likely benign" "" "0000621038" "0" "30" "2" "39216445" "39216445" "subst" "0.0000693827" "01943" "SOS1_000171" "g.39216445G>A" "" "" "" "SOS1(NM_005633.3):c.3357C>T (p.T1119=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38989304G>A" "" "likely benign" "" "0000621039" "0" "30" "2" "39241069" "39241069" "subst" "0" "02326" "SOS1_000175" "g.39241069G>C" "" "" "" "SOS1(NM_005633.3):c.2002C>G (p.Q668E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39013928G>C" "" "likely benign" "" "0000621040" "0" "30" "2" "39249715" "39249715" "subst" "0.0000980352" "01943" "SOS1_000177" "g.39249715G>A" "" "" "" "SOS1(NM_005633.3):c.1854C>T (p.Y618=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39022574G>A" "" "likely benign" "" "0000650593" "1" "30" "2" "39211234" "39211234" "subst" "0" "03575" "SOS1_000182" "g.39211234T>C" "28/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "28 heterozygous; {DB:CLININrs79270739}" "Germline" "" "rs79270739" "0" "" "" "g.38984093T>C" "" "likely benign" "" "0000650594" "1" "50" "2" "39240663" "39240663" "subst" "0.00000814007" "03575" "SOS1_000161" "g.39240663T>C" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs757094189}" "Germline" "" "rs757094189" "0" "" "" "g.39013522T>C" "" "VUS" "" "0000650595" "1" "10" "2" "39241107" "39241107" "subst" "0.00750777" "03575" "SOS1_000040" "g.39241107G>A" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs56219475}" "Germline" "" "rs56219475" "0" "" "" "g.39013966G>A" "" "benign" "" "0000650596" "1" "90" "2" "39249913" "39249913" "subst" "0" "03575" "SOS1_000021" "g.39249913C>G" "1/2786 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs267607079}" "Germline" "" "rs267607079" "0" "" "" "g.39022772C>G" "" "pathogenic" "" "0000650598" "1" "10" "2" "39250339" "39250339" "subst" "0.00746043" "03575" "SOS1_000120" "g.39250339C>T" "15/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "15 heterozygous, no homozygous; {DB:CLININrs141390073}" "Germline" "" "rs141390073" "0" "" "" "g.39023198C>T" "" "benign" "" "0000650599" "1" "70" "2" "39251221" "39251221" "subst" "0" "03575" "SOS1_000183" "g.39251221T>C" "2/2740 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs397517146}" "Germline" "" "rs397517146" "0" "" "" "g.39024080T>C" "" "likely pathogenic" "" "0000650600" "1" "10" "2" "39262409" "39262409" "subst" "0.0000853284" "03575" "SOS1_000179" "g.39262409G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs190222208}" "Germline" "" "rs190222208" "0" "" "" "g.39035268G>A" "" "benign" "" "0000650601" "1" "90" "2" "39278352" "39278352" "subst" "0" "03575" "SOS1_000003" "g.39278352G>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs137852812}" "Germline" "" "rs137852812" "0" "" "" "g.39051211G>T" "" "pathogenic" "" "0000654628" "0" "30" "2" "39224112" "39224112" "subst" "0.00181332" "01943" "SOS1_000106" "g.39224112T>C" "" "" "" "SOS1(NM_005633.3):c.3032A>G (p.N1011S, p.(Asn1011Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38996971T>C" "" "likely benign" "" "0000654629" "0" "30" "2" "39233616" "39233616" "subst" "0.0000284977" "02330" "SOS1_000184" "g.39233616C>G" "" "" "" "SOS1(NM_005633.3):c.2728G>C (p.D910H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39006475C>G" "" "likely benign" "" "0000654630" "0" "50" "2" "39239313" "39239313" "subst" "0.0000122047" "02325" "SOS1_000185" "g.39239313T>C" "" "" "" "SOS1(NM_005633.3):c.2344A>G (p.I782V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39012172T>C" "" "VUS" "" "0000654631" "0" "30" "2" "39241094" "39241094" "subst" "0" "01943" "SOS1_000135" "g.39241094A>T" "" "" "" "SOS1(NM_005633.3):c.1977T>A (p.D659E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39013953A>T" "" "likely benign" "" "0000654632" "0" "50" "2" "39241933" "39241933" "subst" "0" "02327" "SOS1_000186" "g.39241933T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39014792T>C" "" "VUS" "" "0000654633" "0" "30" "2" "39249749" "39249749" "subst" "0.0000122265" "02330" "SOS1_000187" "g.39249749A>G" "" "" "" "SOS1(NM_005633.3):c.1820T>C (p.I607T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39022608A>G" "" "likely benign" "" "0000654635" "0" "70" "2" "39285837" "39285837" "subst" "0" "02327" "SOS1_000001" "g.39285837C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39058696C>T" "" "likely pathogenic" "" "0000665800" "0" "50" "2" "39249911" "39249911" "subst" "0" "01164" "SOS1_000188" "g.39249911A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.39022770A>G" "" "VUS" "" "0000665988" "21" "90" "2" "39249927" "39249927" "subst" "0" "03580" "SOS1_000016" "g.39249927T>G" "" "{PMID:Santoro 2018:28456002}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39022786T>G" "{CV:40678}" "pathogenic (dominant)" "" "0000676627" "0" "50" "2" "39262420" "39262420" "subst" "0.00000812651" "02330" "SOS1_000189" "g.39262420T>C" "" "" "" "SOS1(NM_005633.3):c.1007A>G (p.Q336R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676628" "0" "10" "2" "39278400" "39278400" "subst" "0.000154431" "01804" "SOS1_000190" "g.39278400A>G" "" "" "" "SOS1(NM_005633.3):c.749T>C (p.(Val250Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000688751" "0" "50" "2" "39213021" "39213021" "subst" "0.000113781" "02325" "SOS1_000191" "g.39213021G>C" "" "" "" "SOS1(NM_005633.3):c.3946C>G (p.H1316D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688752" "0" "30" "2" "39224148" "39224148" "subst" "0.00000814379" "01804" "SOS1_000157" "g.39224148T>C" "" "" "" "SOS1(NM_005633.3):c.2996A>G (p.(Asn999Ser), p.N999S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688753" "0" "90" "2" "39249914" "39249914" "subst" "0" "01804" "SOS1_000018" "g.39249914C>T" "" "" "" "SOS1(NM_005633.3):c.1655G>A (p.(Arg552Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000709016" "0" "70" "2" "39233616" "39233616" "subst" "0" "01602" "SOS1_000192" "g.39233616C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000718774" "0" "30" "2" "39224484" "39224484" "subst" "0" "01943" "SOS1_000193" "g.39224484A>G" "" "" "" "SOS1(NM_005633.3):c.2874T>C (p.F958=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718775" "0" "90" "2" "39249914" "39249914" "subst" "0.000004071" "02326" "SOS1_000019" "g.39249914C>A" "" "" "" "SOS1(NM_005633.3):c.1655G>T (p.R552M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000718776" "0" "50" "2" "39281904" "39281904" "subst" "0" "02329" "SOS1_000164" "g.39281904C>T" "" "" "" "SOS1(NM_005633.3):c.571G>A (p.E191K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718777" "0" "30" "2" "39285801" "39285802" "dup" "0" "02326" "SOS1_000194" "g.39285801_39285802dup" "" "" "" "SOS1(NM_005633.3):c.345+12_345+13dupCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718778" "0" "50" "2" "39285923" "39285923" "subst" "0.00000407169" "01804" "SOS1_000195" "g.39285923G>C" "" "" "" "SOS1(NM_005633.3):c.236C>G (p.(Pro79Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000787406" "0" "50" "2" "39240663" "39240663" "subst" "0.00000814007" "00006" "SOS1_000161" "g.39240663T>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs757094189" "0" "" "" "g.39013522T>C" "{CV-RCV:000171288.1}" "VUS" "" "0000800593" "0" "30" "2" "39213198" "39213198" "subst" "0.0000284921" "02325" "SOS1_000039" "g.39213198T>C" "" "" "" "SOS1(NM_005633.3):c.3769A>G (p.T1257A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800594" "0" "30" "2" "39216397" "39216397" "subst" "0.0000122385" "02326" "SOS1_000197" "g.39216397C>G" "" "" "" "SOS1(NM_005633.3):c.3391+14G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800595" "0" "30" "2" "39224156" "39224156" "subst" "0.000318025" "01943" "SOS1_000172" "g.39224156C>T" "" "" "" "SOS1(NM_005633.3):c.2988G>A (p.P996=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800596" "0" "50" "2" "39237776" "39237776" "subst" "0" "02327" "SOS1_000198" "g.39237776T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800597" "0" "30" "2" "39239389" "39239389" "subst" "0" "02326" "SOS1_000199" "g.39239389A>C" "" "" "" "SOS1(NM_005633.3):c.2268T>G (p.S756R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800598" "0" "50" "2" "39249842" "39249842" "subst" "0" "02327" "SOS1_000200" "g.39249842C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800599" "0" "50" "2" "39249903" "39249903" "subst" "0.0000081408" "02325" "SOS1_000201" "g.39249903C>T" "" "" "" "SOS1(NM_005633.3):c.1666G>A (p.V556I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800600" "0" "50" "2" "39250092" "39250092" "subst" "0" "02327" "SOS1_000202" "g.39250092T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800601" "0" "50" "2" "39250121" "39250121" "subst" "0" "01943" "SOS1_000203" "g.39250121G>A" "" "" "" "SOS1(NM_005633.3):c.1448C>T (p.A483V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800602" "0" "50" "2" "39278394" "39278394" "subst" "0.0000853284" "01943" "SOS1_000027" "g.39278394A>G" "" "" "" "SOS1(NM_005633.3):c.755T>C (p.I252T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800603" "0" "30" "2" "39281924" "39281924" "subst" "0" "01943" "SOS1_000204" "g.39281924T>C" "" "" "" "SOS1(NM_005633.3):c.551A>G (p.N184S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800604" "0" "10" "2" "39285799" "39285799" "subst" "0.000947586" "02330" "SOS1_000153" "g.39285799G>A" "" "" "" "SOS1(NM_005633.3):c.345+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000815862" "0" "70" "2" "39250217" "39250217" "subst" "0.00000813802" "00006" "SOS1_000205" "g.39250217G>T" "" "{PMID:Nair 2018:30293248}" "" "" "" "Germline/De novo (untested)" "" "rs730880218" "0" "" "" "g.39023076G>T" "" "likely pathogenic" "" "0000842126" "0" "50" "2" "39224171" "39224171" "subst" "0.00000409329" "03779" "SOS1_000206" "g.39224171A>C" "" "" "" "" "" "Unknown" "" "rs751274973" "0" "" "" "" "" "VUS" "" "0000849877" "0" "50" "2" "39234258" "39234258" "subst" "0.0000487936" "02327" "SOS1_000208" "g.39234258G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849878" "0" "50" "2" "39278342" "39278353" "del" "0" "02327" "SOS1_000212" "g.39278342_39278353del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849879" "0" "30" "2" "39281777" "39281777" "subst" "0.0000487975" "01943" "SOS1_000213" "g.39281777T>C" "" "" "" "SOS1(NM_005633.3):c.698A>G (p.N233S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858521" "0" "30" "2" "39234256" "39234256" "subst" "0.00000406633" "01943" "SOS1_000207" "g.39234256T>C" "" "" "" "SOS1(NM_005633.3):c.2589A>G (p.Q863=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858522" "0" "50" "2" "39240630" "39240630" "subst" "0.0000284998" "01943" "SOS1_000209" "g.39240630C>T" "" "" "" "SOS1(NM_005633.3):c.2138G>A (p.R713Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858523" "0" "70" "2" "39250248" "39250248" "subst" "0" "01943" "SOS1_000210" "g.39250248A>G" "" "" "" "SOS1(NM_005633.3):c.1321T>C (p.C441R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000858524" "0" "30" "2" "39262577" "39262577" "subst" "0.0000893662" "01943" "SOS1_000211" "g.39262577C>T" "" "" "" "SOS1(NM_005633.3):c.929G>A (p.R310H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SOS1 ## Count = 286 "{{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}}" "0000169334" "00020028" "00" "3709" "0" "3709" "0" "c.3709C>A" "r.(?)" "p.(Pro1237Thr)" "" "0000245741" "00020028" "10" "2673" "14" "2673" "14" "c.2673+14T>C" "r.(=)" "p.(=)" "" "0000245744" "00020028" "10" "1203" "-20" "1203" "-20" "c.1203-20T>C" "r.(=)" "p.(=)" "" "0000245853" "00020028" "10" "233" "0" "233" "0" "c.233T>G" "r.(?)" "p.(Phe78Cys)" "" "0000245943" "00020028" "10" "2167" "16" "2167" "16" "c.2167+16del" "r.(=)" "p.(=)" "" "0000248336" "00020028" "30" "1203" "-20" "1203" "-20" "c.1203-20T>C" "r.(=)" "p.(=)" "" "0000250071" "00020028" "10" "1203" "-20" "1203" "-20" "c.1203-20T>C" "r.(=)" "p.(=)" "" "0000250084" "00020028" "10" "2997" "0" "2997" "0" "c.2997T>C" "r.(?)" "p.(Asn999=)" "" "0000251741" "00020028" "30" "2673" "14" "2673" "14" "c.2673+14T>C" "r.(=)" "p.(=)" "" "0000296102" "00020028" "30" "1749" "0" "1749" "0" "c.1749A>G" "r.(?)" "p.(Glu583=)" "" "0000296103" "00020028" "10" "1964" "0" "1964" "0" "c.1964C>T" "r.(?)" "p.(Pro655Leu)" "" "0000296105" "00020028" "10" "3032" "0" "3032" "0" "c.3032A>G" "r.(?)" "p.(Asn1011Ser)" "" "0000296106" "00020028" "30" "3729" "0" "3729" "0" "c.3729C>G" "r.(?)" "p.(Asp1243Glu)" "" "0000296107" "00020028" "10" "3942" "0" "3942" "0" "c.3942C>T" "r.(?)" "p.(His1314=)" "" "0000298434" "00020028" "50" "1532" "0" "1532" "0" "c.1532A>G" "r.(?)" "p.(Lys511Arg)" "" "0000298435" "00020028" "30" "1705" "0" "1705" "0" "c.1705C>G" "r.(?)" "p.(Leu569Val)" "" "0000299666" "00020028" "30" "1230" "0" "1230" "0" "c.1230G>A" "r.(?)" "p.(Gln410=)" "" "0000299667" "00020028" "10" "195" "0" "195" "0" "c.195A>C" "r.(?)" "p.(Arg65=)" "" "0000299668" "00020028" "10" "1964" "0" "1964" "0" "c.1964C>T" "r.(?)" "p.(Pro655Leu)" "" "0000299670" "00020028" "30" "2964" "17" "2964" "17" "c.2964+17A>G" "r.(=)" "p.(=)" "" "0000299671" "00020028" "30" "3391" "7" "3391" "7" "c.3391+7A>G" "r.(=)" "p.(=)" "" "0000299672" "00020028" "30" "570" "0" "570" "0" "c.570C>T" "r.(?)" "p.(Asp190=)" "" "0000302395" "00020028" "10" "2122" "0" "2122" "0" "c.2122G>A" "r.(?)" "p.(Ala708Thr)" "" "0000302396" "00020028" "30" "3032" "0" "3032" "0" "c.3032A>G" "r.(?)" "p.(Asn1011Ser)" "" "0000302397" "00020028" "30" "3391" "7" "3391" "7" "c.3391+7A>G" "r.(=)" "p.(=)" "" "0000326945" "00020028" "50" "3391" "1" "3391" "1" "c.3391+1G>C" "r.spl?" "p.?" "" "0000326947" "00020028" "30" "2167" "6" "2167" "6" "c.2167+6T>G" "r.(=)" "p.(=)" "" "0000326948" "00020028" "30" "1454" "0" "1454" "0" "c.1454A>G" "r.(?)" "p.(Asn485Ser)" "" "0000337973" "00020028" "30" "511" "-18" "511" "-18" "c.511-18A>G" "r.(=)" "p.(=)" "" "0000337974" "00020028" "10" "345" "15" "345" "15" "c.345+15C>T" "r.(=)" "p.(=)" "" "0000340018" "00020028" "30" "798" "0" "798" "0" "c.798A>C" "r.(?)" "p.(Thr266=)" "" "0000343095" "00020028" "90" "1654" "0" "1654" "0" "c.1654A>G" "r.(?)" "p.(Arg552Gly)" "" "0000343096" "00020028" "90" "1655" "0" "1655" "0" "c.1655G>A" "r.(?)" "p.(Arg552Lys)" "" "0000343894" "00020028" "30" "3600" "0" "3600" "0" "c.3600C>G" "r.(?)" "p.(Asp1200Glu)" "" "0000344169" "00020028" "30" "1977" "0" "1977" "0" "c.1977T>A" "r.(?)" "p.(Asp659Glu)" "" "0000344837" "00020028" "50" "1277" "0" "1277" "0" "c.1277A>C" "r.(?)" "p.(Gln426Pro)" "" "0000345418" "00020028" "90" "1297" "0" "1297" "0" "c.1297G>A" "r.(?)" "p.(Glu433Lys)" "" "0000346185" "00020028" "90" "1811" "0" "1811" "0" "c.1811G>T" "r.(?)" "p.(Gly604Val)" "" "0000346459" "00020028" "30" "1055" "0" "1055" "0" "c.1055A>G" "r.(?)" "p.(His352Arg)" "" "0000346727" "00020028" "50" "1285" "0" "1285" "0" "c.1285A>G" "r.(?)" "p.(Ile429Val)" "" "0000346795" "00020028" "90" "2197" "0" "2197" "0" "c.2197A>T" "r.(?)" "p.(Ile733Phe)" "" "0000347439" "00020028" "90" "508" "0" "508" "0" "c.508A>G" "r.(?)" "p.(Lys170Glu)" "" "0000347634" "00020028" "70" "2183" "0" "2183" "0" "c.2183A>C" "r.(?)" "p.(Lys728Thr)" "" "0000347797" "00020028" "90" "806" "0" "806" "0" "c.806T>G" "r.(?)" "p.(Met269Arg)" "" "0000347799" "00020028" "90" "806" "0" "806" "0" "c.806T>C" "r.(?)" "p.(Met269Thr)" "" "0000348081" "00020028" "90" "1867" "0" "1867" "0" "c.1867T>A" "r.(?)" "p.(Phe623Ile)" "" "0000348118" "00020028" "70" "3134" "0" "3134" "0" "c.3134C>G" "r.(?)" "p.(Pro1045Arg)" "" "0000348163" "00020028" "50" "3709" "0" "3709" "0" "c.3709C>G" "r.(?)" "p.(Pro1237Ala)" "" "0000348542" "00020028" "10" "1964" "0" "1964" "0" "c.1964C>T" "r.(?)" "p.(Pro655Leu)" "" "0000349089" "00020028" "90" "1642" "0" "1642" "0" "c.1642A>C" "r.(?)" "p.(Ser548Arg)" "" "0000349399" "00020028" "90" "797" "0" "797" "0" "c.797C>A" "r.(?)" "p.(Thr266Lys)" "" "0000349483" "00020028" "30" "109" "0" "109" "0" "c.109A>G" "r.(?)" "p.(Thr37Ala)" "" "0000349848" "00020028" "90" "2186" "0" "2186" "0" "c.2186G>T" "r.(?)" "p.(Trp729Leu)" "" "0000350177" "00020028" "90" "2104" "0" "2104" "0" "c.2104T>C" "r.(?)" "p.(Tyr702His)" "" "0000350752" "00020028" "30" "3347" "-1" "3347" "-1" "c.3347-1G>A" "r.spl?" "p.?" "" "0000351165" "00020028" "30" "1074" "5" "1074" "5" "c.1074+5G>C" "r.spl?" "p.?" "" "0000351166" "00020028" "30" "345" "7" "345" "7" "c.345+7C>T" "r.(=)" "p.(=)" "" "0000400807" "00020028" "30" "1066" "0" "1066" "0" "c.1066C>A" "r.(?)" "p.(Leu356Ile)" "" "0000436819" "00020028" "95" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "?" "0000436820" "00020028" "95" "109" "0" "109" "0" "c.109A>G" "r.(?)" "p.(Thr37Ala)" "2" "0000436821" "00020028" "55" "233" "0" "233" "0" "c.233T>G" "r.(?)" "p.(Phe78Cys)" "3" "0000436822" "00020028" "95" "305" "0" "305" "0" "c.305C>G" "r.(?)" "p.(Pro102Arg)" "3" "0000436823" "00020028" "99" "322" "0" "322" "0" "c.322G>A" "r.(?)" "p.(Glu108Lys)" "3" "0000436824" "00020028" "95" "322" "0" "322" "0" "c.322G>A" "r.(?)" "p.(Glu108Lys)" "3" "0000436825" "00020028" "95" "322" "0" "322" "0" "c.322G>A" "r.(?)" "p.(Glu108Lys)" "3" "0000436826" "00020028" "97" "335" "0" "335" "0" "c.335C>G" "r.(?)" "p.(Pro112Arg)" "3" "0000436827" "00020028" "99" "508" "0" "508" "0" "c.508A>G" "r.(?)" "p.(Lys170Glu)" "4" "0000436828" "00020028" "95" "508" "0" "508" "0" "c.508A>G" "r.(?)" "p.(Lys170Glu)" "4" "0000436829" "00020028" "97" "755" "0" "755" "0" "c.755T>C" "r.(?)" "p.(Ile252Thr)" "6" "0000436830" "00020028" "75" "755" "0" "755" "0" "c.755T>C" "r.(?)" "p.(Ile252Thr)" "6" "0000436831" "00020028" "99" "797" "0" "797" "0" "c.797C>A" "r.(?)" "p.(Thr266Lys)" "6" "0000436832" "00020028" "95" "797" "0" "797" "0" "c.797C>A" "r.(?)" "p.(Thr266Lys)" "6" "0000436833" "00020028" "95" "797" "0" "797" "0" "c.797C>A" "r.(?)" "p.(Thr266Lys)" "6" "0000436834" "00020028" "99" "806" "0" "806" "0" "c.806T>C" "r.(?)" "p.(Met269Thr)" "6" "0000436835" "00020028" "95" "806" "0" "806" "0" "c.806T>C" "r.(?)" "p.(Met269Thr)" "6" "0000436836" "00020028" "99" "806" "0" "806" "0" "c.806T>G" "r.(?)" "p.(Met269Arg)" "6" "0000436837" "00020028" "95" "806" "0" "806" "0" "c.806T>G" "r.(?)" "p.(Met269Arg)" "6" "0000436838" "00020028" "95" "806" "0" "806" "0" "c.806T>G" "r.(?)" "p.(Met269Arg)" "6" "0000436839" "00020028" "95" "806" "0" "806" "0" "c.806T>G" "r.(?)" "p.(Met269Arg)" "6" "0000436840" "00020028" "95" "806" "0" "806" "0" "c.806T>G" "r.(?)" "p.(Met269Arg)" "6" "0000436841" "00020028" "95" "925" "0" "925" "0" "c.925G>T" "r.(?)" "p.(Asp309Tyr)" "7" "0000436842" "00020028" "95" "925" "0" "925" "0" "c.925G>T" "r.(?)" "p.(Asp309Tyr)" "7" "0000436843" "00020028" "95" "1010" "0" "1010" "0" "c.1010A>G" "r.(?)" "p.(Tyr337Cys)" "8" "0000436844" "00020028" "97" "1264" "0" "1264" "0" "c.1264A>G" "r.(?)" "p.(Met422Val)" "10" "0000436845" "00020028" "97" "1270" "0" "1270" "0" "c.1270G>A" "r.(?)" "p.(Glu424Lys)" "10" "0000436846" "00020028" "99" "1281" "0" "1289" "0" "c.1281_1289del" "r.(?)" "p.(Lys427_Asp430delinsAsn)" "10" "0000436847" "00020028" "99" "1294" "0" "1294" "0" "c.1294T>C" "r.(?)" "p.(Trp432Arg)" "10" "0000436848" "00020028" "95" "1294" "0" "1294" "0" "c.1294T>C" "r.(?)" "p.(Trp432Arg)" "10" "0000436849" "00020028" "95" "1294" "0" "1294" "0" "c.1294T>C" "r.(?)" "p.(Trp432Arg)" "10" "0000436850" "00020028" "95" "1294" "0" "1294" "0" "c.1294T>C" "r.(?)" "p.(Trp432Arg)" "10" "0000436851" "00020028" "99" "1294" "0" "1299" "0" "c.1294_1299del" "r.(?)" "p.(Trp432_Glu433del)" "10" "0000436852" "00020028" "99" "1297" "0" "1297" "0" "c.1297G>A" "r.(?)" "p.(Glu433Lys)" "10" "0000436853" "00020028" "95" "1297" "0" "1297" "0" "c.1297G>A" "r.(?)" "p.(Glu433Lys)" "10" "0000436854" "00020028" "95" "1297" "0" "1297" "0" "c.1297G>A" "r.(?)" "p.(Glu433Lys)" "10" "0000436855" "00020028" "95" "1297" "0" "1297" "0" "c.1297G>A" "r.(?)" "p.(Glu433Lys)" "10" "0000436856" "00020028" "99" "1300" "0" "1300" "0" "c.1300G>A" "r.(?)" "p.(Gly434Arg)" "10" "0000436857" "00020028" "95" "1300" "0" "1300" "0" "c.1300G>A" "r.(?)" "p.(Gly434Arg)" "10" "0000436858" "00020028" "95" "1300" "0" "1300" "0" "c.1300G>C" "r.(?)" "p.(Gly434Arg)" "10" "0000436859" "00020028" "99" "1300" "0" "1301" "0" "c.1300_1301delinsAA" "r.(?)" "p.(Gly434Lys)" "10" "0000436860" "00020028" "99" "1310" "0" "1310" "0" "c.1310T>C" "r.(?)" "p.(Ile437Thr)" "10" "0000436861" "00020028" "99" "1322" "0" "1322" "0" "c.1322G>A" "r.(?)" "p.(Cys441Tyr)" "10" "0000436862" "00020028" "95" "1322" "0" "1322" "0" "c.1322G>A" "r.(?)" "p.(Cys441Tyr)" "10" "0000436863" "00020028" "95" "1322" "0" "1322" "0" "c.1322G>A" "r.(?)" "p.(Cys441Tyr)" "10" "0000436864" "00020028" "99" "1430" "0" "1430" "0" "c.1430A>G" "r.(?)" "p.(Gln477Arg)" "10" "0000436865" "00020028" "95" "1430" "0" "1430" "0" "c.1430A>G" "r.(?)" "p.(Gln477Arg)" "10" "0000436866" "00020028" "95" "1431" "0" "1431" "0" "c.1431G>T" "r.(?)" "p.(Gln477His)" "10" "0000436867" "00020028" "99" "1433" "0" "1433" "0" "c.1433C>G" "r.(?)" "p.(Pro478Arg)" "10" "0000436868" "00020028" "95" "1433" "0" "1433" "0" "c.1433C>G" "r.(?)" "p.(Pro478Arg)" "10" "0000436869" "00020028" "95" "1433" "0" "1433" "0" "c.1433C>T" "r.(?)" "p.(Pro478Leu)" "10" "0000436870" "00020028" "95" "1433" "0" "1433" "0" "c.1433C>T" "r.(?)" "p.(Pro478Leu)" "10" "0000436871" "00020028" "95" "1434" "0" "1442" "0" "c.1434_1442dup" "r.(?)" "p.(Arg479_Pro481dup)" "10" "0000436872" "00020028" "97" "1444" "0" "1444" "0" "c.1444G>C" "r.(?)" "p.(Gly482Arg)" "10" "0000436873" "00020028" "97" "1469" "0" "1469" "0" "c.1469T>G" "r.(?)" "p.(Leu490Arg)" "10" "0000436874" "00020028" "97" "1490" "0" "1490" "0" "c.1490G>A" "r.(?)" "p.(Arg497Gln)" "10" "0000436875" "00020028" "95" "1490" "0" "1490" "0" "c.1490G>A" "r.(?)" "p.(Arg497Gln)" "10" "0000436876" "00020028" "99" "1642" "0" "1642" "0" "c.1642A>C" "r.(?)" "p.(Ser548Arg)" "10" "0000436877" "00020028" "95" "1642" "0" "1642" "0" "c.1642A>C" "r.(?)" "p.(Ser548Arg)" "10" "0000436878" "00020028" "95" "1642" "0" "1642" "0" "c.1642A>C" "r.(?)" "p.(Ser548Arg)" "10" "0000436879" "00020028" "95" "1642" "0" "1642" "0" "c.1642A>C" "r.(?)" "p.(Ser548Arg)" "10" "0000436880" "00020028" "95" "1644" "0" "1644" "0" "c.1644T>G" "r.(?)" "p.(Ser548Arg)" "10" "0000436881" "00020028" "97" "1646" "0" "1646" "0" "c.1646C>A" "r.(?)" "p.(Thr549Lys)" "10" "0000436882" "00020028" "95" "1649" "0" "1649" "0" "c.1649T>C" "r.(?)" "p.(Leu550Pro)" "10" "0000436883" "00020028" "99" "1654" "0" "1654" "0" "c.1654A>G" "r.(?)" "p.(Arg552Gly)" "10" "0000436884" "00020028" "95" "1654" "0" "1654" "0" "c.1654A>G" "r.(?)" "p.(Arg552Gly)" "10" "0000436885" "00020028" "95" "1654" "0" "1654" "0" "c.1654A>G" "r.(?)" "p.(Arg552Gly)" "10" "0000436886" "00020028" "95" "1654" "0" "1654" "0" "c.1654A>G" "r.(?)" "p.(Arg552Gly)" "10" "0000436887" "00020028" "95" "1654" "0" "1654" "0" "c.1654A>G" "r.(?)" "p.(Arg552Gly)" "10" "0000436888" "00020028" "95" "1654" "0" "1654" "0" "c.1654A>G" "r.(?)" "p.(Arg552Gly)" "10" "0000436889" "00020028" "95" "1654" "0" "1654" "0" "c.1654A>G" "r.(?)" "p.(Arg552Gly)" "10" "0000436890" "00020028" "95" "1654" "0" "1654" "0" "c.1654A>G" "r.(?)" "p.(Arg552Gly)" "10" "0000436891" "00020028" "95" "1654" "0" "1654" "0" "c.1654A>G" "r.(?)" "p.(Arg552Gly)" "10" "0000436892" "00020028" "95" "1654" "0" "1654" "0" "c.1654A>G" "r.(?)" "p.(Arg552Gly)" "10" "0000436893" "00020028" "95" "1654" "0" "1654" "0" "c.1654A>G" "r.(?)" "p.(Arg552Gly)" "10" "0000436894" "00020028" "99" "1655" "0" "1655" "0" "c.1655G>A" "r.(?)" "p.(Arg552Lys)" "10" "0000436895" "00020028" "95" "1655" "0" "1655" "0" "c.1655G>A" "r.(?)" "p.(Arg552Lys)" "10" "0000436896" "00020028" "95" "1655" "0" "1655" "0" "c.1655G>A" "r.(?)" "p.(Arg552Lys)" "10" "0000436897" "00020028" "95" "1655" "0" "1655" "0" "c.1655G>A" "r.(?)" "p.(Arg552Lys)" "10" "0000436898" "00020028" "99" "1655" "0" "1655" "0" "c.1655G>C" "r.(?)" "p.(Arg552Thr)" "10" "0000436899" "00020028" "95" "1655" "0" "1655" "0" "c.1655G>C" "r.(?)" "p.(Arg552Thr)" "10" "0000436900" "00020028" "99" "1655" "0" "1655" "0" "c.1655G>T" "r.(?)" "p.(Arg552Met)" "10" "0000436901" "00020028" "99" "1656" "0" "1656" "0" "c.1656G>C" "r.(?)" "p.(Arg552Ser)" "10" "0000436902" "00020028" "95" "1656" "0" "1656" "0" "c.1656G>C" "r.(?)" "p.(Arg552Ser)" "10" "0000436903" "00020028" "95" "1656" "0" "1656" "0" "c.1656G>C" "r.(?)" "p.(Arg552Ser)" "10" "0000436904" "00020028" "95" "1656" "0" "1656" "0" "c.1656G>T" "r.(?)" "p.(Arg552Ser)" "10" "0000436905" "00020028" "95" "1656" "0" "1656" "0" "c.1656G>T" "r.(?)" "p.(Arg552Ser)" "10" "0000436906" "00020028" "95" "1656" "0" "1656" "0" "c.1656G>T" "r.(?)" "p.(Arg552Ser)" "10" "0000436907" "00020028" "99" "1660" "0" "1673" "0" "c.1660_1673delinsAA" "r.(?)" "p.(Leu554_Met558delinsLys)" "10" "0000436908" "00020028" "95" "1867" "0" "1867" "0" "c.1867T>A" "r.(?)" "p.(Phe623Ile)" "11" "0000436909" "00020028" "15" "1964" "0" "1964" "0" "c.1964C>T" "r.(?)" "p.(Pro655Leu)" "12" "0000436910" "00020028" "15" "1964" "0" "1964" "0" "c.1964C>T" "r.(?)" "p.(Pro655Leu)" "12" "0000436911" "00020028" "55" "1964" "0" "1964" "0" "c.1964C>T" "r.(?)" "p.(Pro655Leu)" "12" "0000436912" "00020028" "55" "1964" "0" "1964" "0" "c.1964C>T" "r.(?)" "p.(Pro655Leu)" "12" "0000436913" "00020028" "15" "1964" "0" "1964" "0" "c.1964C>T" "r.(?)" "p.(Pro655Leu)" "12" "0000436914" "00020028" "15" "1964" "0" "1964" "0" "c.1964C>T" "r.(?)" "p.(Pro655Leu)" "12" "0000436915" "00020028" "15" "1964" "0" "1964" "0" "c.1964C>T" "r.(?)" "p.(Pro655Leu)" "12" "0000436916" "00020028" "15" "1964" "0" "1964" "0" "c.1964C>T" "r.(?)" "p.(Pro655Leu)" "12" "0000436917" "00020028" "15" "1964" "0" "1964" "0" "c.1964C>T" "r.(?)" "p.(Pro655Leu)" "12" "0000436918" "00020028" "95" "2104" "0" "2104" "0" "c.2104T>C" "r.(?)" "p.(Tyr702His)" "13" "0000436919" "00020028" "95" "2104" "0" "2104" "0" "c.2104T>C" "r.(?)" "p.(Tyr702His)" "13" "0000436920" "00020028" "95" "2183" "0" "2183" "0" "c.2183A>T" "r.(?)" "p.(Lys728Ile)" "14" "0000436921" "00020028" "95" "2186" "0" "2186" "0" "c.2186G>T" "r.(?)" "p.(Trp729Leu)" "14" "0000436922" "00020028" "99" "2197" "0" "2197" "0" "c.2197A>T" "r.(?)" "p.(Ile733Phe)" "14" "0000436923" "00020028" "95" "2197" "0" "2197" "0" "c.2197A>T" "r.(?)" "p.(Ile733Phe)" "14" "0000436924" "00020028" "95" "2351" "0" "2351" "0" "c.2351T>C" "r.(?)" "p.(Ile784Thr)" "14" "0000436925" "00020028" "99" "2536" "0" "2536" "0" "c.2536G>A" "r.(?)" "p.(Glu846Lys)" "16" "0000436926" "00020028" "95" "2536" "0" "2536" "0" "c.2536G>A" "r.(?)" "p.(Glu846Lys)" "16" "0000436927" "00020028" "95" "2536" "0" "2536" "0" "c.2536G>A" "r.(?)" "p.(Glu846Lys)" "16" "0000436928" "00020028" "95" "2536" "0" "2536" "0" "c.2536G>A" "r.(?)" "p.(Glu846Lys)" "16" "0000436929" "00020028" "95" "2536" "0" "2536" "0" "c.2536G>A" "r.(?)" "p.(Glu846Lys)" "16" "0000436930" "00020028" "95" "2536" "0" "2536" "0" "c.2536G>A" "r.(?)" "p.(Glu846Lys)" "16" "0000436931" "00020028" "95" "2536" "0" "2536" "0" "c.2536G>A" "r.(?)" "p.(Glu846Lys)" "16" "0000436932" "00020028" "95" "2536" "0" "2536" "0" "c.2536G>A" "r.(?)" "p.(Glu846Lys)" "16" "0000436933" "00020028" "95" "2536" "0" "2536" "0" "c.2536G>A" "r.(?)" "p.(Glu846Lys)" "16" "0000436934" "00020028" "99" "2681" "0" "2681" "0" "c.2681C>G" "r.(?)" "p.(Pro894Arg)" "17" "0000436935" "00020028" "15" "2930" "0" "2930" "0" "c.2930A>G" "r.(?)" "p.(Gln977Arg)" "17" "0000436936" "00020028" "35" "2999" "0" "2999" "0" "c.2999G>A" "r.(?)" "p.(Ser1000Asn)" "18" "0000436937" "00020028" "95" "3248" "0" "3248" "0" "c.3248dup" "r.3248dup" "p.(Arg1084Lysfs*23)" "20" "0000436938" "00020028" "95" "3392" "0" "3392" "0" "c.3392G>A" "r.(?)" "p.(Arg1131Lys)" "22" "0000436939" "00020028" "95" "3418" "0" "3418" "0" "c.3418T>A" "r.(?)" "p.(Leu1140Ile)" "22" "0000436940" "00020028" "95" "3769" "0" "3769" "0" "c.3769A>G" "r.(?)" "p.(Thr1257Ala)" "23" "0000436941" "00020028" "35" "3959" "0" "3959" "0" "c.3959A>G" "r.(?)" "p.(His1320Arg)" "23" "0000438771" "00020028" "90" "1654" "0" "1654" "0" "c.1654A>G" "r.(?)" "p.Arg552Gly" "" "0000438842" "00020028" "50" "64" "0" "64" "0" "c.64C>G" "r.(?)" "p.Leu22Val" "" "0000515782" "00020028" "30" "3391" "7" "3391" "7" "c.3391+7A>G" "r.(=)" "p.(=)" "" "0000515784" "00020028" "30" "2999" "0" "2999" "0" "c.2999G>A" "r.(?)" "p.(Ser1000Asn)" "" "0000515785" "00020028" "30" "2996" "0" "2996" "0" "c.2996A>G" "r.(?)" "p.(Asn999Ser)" "" "0000515786" "00020028" "30" "2673" "14" "2673" "14" "c.2673+14T>C" "r.(=)" "p.(=)" "" "0000515787" "00020028" "50" "2371" "0" "2371" "0" "c.2371C>A" "r.(?)" "p.(Leu791Ile)" "" "0000515788" "00020028" "30" "2371" "0" "2371" "0" "c.2371C>A" "r.(?)" "p.(Leu791Ile)" "" "0000515789" "00020028" "50" "2371" "0" "2371" "0" "c.2371C>A" "r.(?)" "p.(Leu791Ile)" "" "0000515790" "00020028" "50" "2207" "0" "2207" "0" "c.2207T>G" "r.(?)" "p.(Ile736Arg)" "" "0000515791" "00020028" "10" "2167" "6" "2167" "6" "c.2167+6T>G" "r.(=)" "p.(=)" "" "0000515792" "00020028" "10" "2167" "16" "2167" "16" "c.2167+16dup" "r.(=)" "p.(=)" "" "0000515793" "00020028" "30" "2167" "16" "2167" "16" "c.2167+16dup" "r.(=)" "p.(=)" "" "0000515794" "00020028" "50" "2105" "0" "2105" "0" "c.2105A>G" "r.(?)" "p.(Tyr702Cys)" "" "0000515795" "00020028" "30" "1705" "0" "1705" "0" "c.1705C>G" "r.(?)" "p.(Leu569Val)" "" "0000515796" "00020028" "90" "1656" "0" "1656" "0" "c.1656G>C" "r.(?)" "p.(Arg552Ser)" "" "0000515797" "00020028" "90" "1310" "0" "1310" "0" "c.1310T>C" "r.(?)" "p.(Ile437Thr)" "" "0000515798" "00020028" "70" "1294" "0" "1294" "0" "c.1294T>A" "r.(?)" "p.(Trp432Arg)" "" "0000515799" "00020028" "10" "1074" "5" "1074" "5" "c.1074+5G>C" "r.spl?" "p.?" "" "0000515800" "00020028" "30" "1074" "5" "1074" "5" "c.1074+5G>C" "r.spl?" "p.?" "" "0000515801" "00020028" "30" "1074" "5" "1074" "5" "c.1074+5G>C" "r.spl?" "p.?" "" "0000515802" "00020028" "10" "1074" "5" "1074" "5" "c.1074+5G>C" "r.spl?" "p.?" "" "0000515803" "00020028" "30" "821" "0" "821" "0" "c.821G>T" "r.(?)" "p.(Ser274Ile)" "" "0000515804" "00020028" "50" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "" "0000515805" "00020028" "10" "570" "0" "570" "0" "c.570C>T" "r.(?)" "p.(Asp190=)" "" "0000515806" "00020028" "30" "570" "0" "570" "0" "c.570C>T" "r.(?)" "p.(Asp190=)" "" "0000515807" "00020028" "70" "512" "0" "512" "0" "c.512T>G" "r.(?)" "p.(Val171Gly)" "" "0000515808" "00020028" "70" "508" "0" "508" "0" "c.508A>G" "r.(?)" "p.(Lys170Glu)" "" "0000515809" "00020028" "90" "508" "0" "508" "0" "c.508A>G" "r.(?)" "p.(Lys170Glu)" "" "0000515810" "00020028" "70" "323" "0" "323" "0" "c.323A>G" "r.(?)" "p.(Glu108Gly)" "" "0000515811" "00020028" "30" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Glu95Lys)" "" "0000515812" "00020028" "30" "213" "14" "213" "16" "c.213+14_213+16del" "r.(=)" "p.(=)" "" "0000515813" "00020028" "10" "195" "0" "195" "0" "c.195A>C" "r.(?)" "p.(Arg65=)" "" "0000515814" "00020028" "50" "137" "0" "137" "0" "c.137A>T" "r.(?)" "p.(Gln46Leu)" "" "0000515815" "00020028" "30" "109" "0" "109" "0" "c.109A>G" "r.(?)" "p.(Thr37Ala)" "" "0000515816" "00020028" "30" "87" "10" "87" "10" "c.87+10A>G" "r.(=)" "p.(=)" "" "0000592567" "00020028" "70" "3347" "-1" "3347" "-1" "c.3347-1G>A" "r.spl" "p.?" "" "0000607921" "00020028" "30" "3769" "0" "3769" "0" "c.3769A>G" "r.(?)" "p.(Thr1257Ala)" "" "0000607922" "00020028" "30" "3032" "0" "3032" "0" "c.3032A>G" "r.(?)" "p.(Asn1011Ser)" "" "0000607923" "00020028" "10" "2988" "0" "2988" "0" "c.2988G>A" "r.(?)" "p.(Pro996=)" "" "0000607924" "00020028" "70" "2894" "0" "2894" "0" "c.2894C>G" "r.(?)" "p.(Ala965Gly)" "" "0000607925" "00020028" "30" "2674" "-9" "2674" "-9" "c.2674-9del" "r.(=)" "p.(=)" "" "0000607926" "00020028" "30" "1964" "0" "1964" "0" "c.1964C>T" "r.(?)" "p.(Pro655Leu)" "" "0000607927" "00020028" "50" "1865" "0" "1865" "0" "c.1865A>G" "r.(?)" "p.(Asn622Ser)" "" "0000607928" "00020028" "90" "1649" "0" "1649" "0" "c.1649T>C" "r.(?)" "p.(Leu550Pro)" "" "0000607929" "00020028" "50" "1613" "0" "1613" "0" "c.1613T>C" "r.(?)" "p.(Met538Thr)" "" "0000607930" "00020028" "90" "1294" "0" "1294" "0" "c.1294T>C" "r.(?)" "p.(Trp432Arg)" "" "0000607931" "00020028" "30" "1018" "0" "1018" "0" "c.1018C>T" "r.(?)" "p.(Pro340Ser)" "" "0000607932" "00020028" "50" "985" "0" "985" "0" "c.985G>A" "r.(?)" "p.(Glu329Lys)" "" "0000607933" "00020028" "70" "305" "0" "305" "0" "c.305C>G" "r.(?)" "p.(Pro102Arg)" "" "0000607934" "00020028" "50" "169" "0" "169" "0" "c.169A>T" "r.(?)" "p.(Asn57Tyr)" "" "0000621037" "00020028" "30" "3600" "0" "3600" "0" "c.3600C>G" "r.(?)" "p.(Asp1200Glu)" "" "0000621038" "00020028" "30" "3357" "0" "3357" "0" "c.3357C>T" "r.(?)" "p.(Thr1119=)" "" "0000621039" "00020028" "30" "2002" "0" "2002" "0" "c.2002C>G" "r.(?)" "p.(Gln668Glu)" "" "0000621040" "00020028" "30" "1854" "0" "1854" "0" "c.1854C>T" "r.(?)" "p.(Tyr618=)" "" "0000650593" "00020028" "30" "5733" "0" "5733" "0" "c.*1731A>G" "r.(=)" "p.(=)" "" "0000650594" "00020028" "50" "2105" "0" "2105" "0" "c.2105A>G" "r.(?)" "p.(Tyr702Cys)" "" "0000650595" "00020028" "10" "1964" "0" "1964" "0" "c.1964C>T" "r.(?)" "p.(Pro655Leu)" "" "0000650596" "00020028" "90" "1656" "0" "1656" "0" "c.1656G>C" "r.(?)" "p.(Arg552Ser)" "" "0000650598" "00020028" "10" "1230" "0" "1230" "0" "c.1230G>A" "r.(=)" "p.(=)" "" "0000650599" "00020028" "70" "1132" "0" "1132" "0" "c.1132A>G" "r.(?)" "p.(Thr378Ala)" "" "0000650600" "00020028" "10" "1018" "0" "1018" "0" "c.1018C>T" "r.(?)" "p.(Pro340Ser)" "" "0000650601" "00020028" "90" "797" "0" "797" "0" "c.797C>A" "r.(?)" "p.(Thr266Lys)" "" "0000654628" "00020028" "30" "3032" "0" "3032" "0" "c.3032A>G" "r.(?)" "p.(Asn1011Ser)" "" "0000654629" "00020028" "30" "2728" "0" "2728" "0" "c.2728G>C" "r.(?)" "p.(Asp910His)" "" "0000654630" "00020028" "50" "2344" "0" "2344" "0" "c.2344A>G" "r.(?)" "p.(Ile782Val)" "" "0000654631" "00020028" "30" "1977" "0" "1977" "0" "c.1977T>A" "r.(?)" "p.(Asp659Glu)" "" "0000654632" "00020028" "50" "1913" "0" "1913" "0" "c.1913A>G" "r.(?)" "p.(Gln638Arg)" "" "0000654633" "00020028" "30" "1820" "0" "1820" "0" "c.1820T>C" "r.(?)" "p.(Ile607Thr)" "" "0000654635" "00020028" "70" "322" "0" "322" "0" "c.322G>A" "r.(?)" "p.(Glu108Lys)" "" "0000665800" "00020028" "50" "1658" "0" "1658" "0" "c.1658T>C" "r.(?)" "p.(Met553Thr)" "" "0000665988" "00020028" "90" "1642" "0" "1642" "0" "c.1642A>C" "r.(?)" "p.Ser548Arg" "10" "0000676627" "00020028" "50" "1007" "0" "1007" "0" "c.1007A>G" "r.(?)" "p.(Gln336Arg)" "" "0000676628" "00020028" "10" "749" "0" "749" "0" "c.749T>C" "r.(?)" "p.(Val250Ala)" "" "0000688751" "00020028" "50" "3946" "0" "3946" "0" "c.3946C>G" "r.(?)" "p.(His1316Asp)" "" "0000688752" "00020028" "30" "2996" "0" "2996" "0" "c.2996A>G" "r.(?)" "p.(Asn999Ser)" "" "0000688753" "00020028" "90" "1655" "0" "1655" "0" "c.1655G>A" "r.(?)" "p.(Arg552Lys)" "" "0000709016" "00020028" "70" "2728" "0" "2728" "0" "c.2728G>T" "r.(?)" "p.(Asp910Tyr)" "" "0000718774" "00020028" "30" "2874" "0" "2874" "0" "c.2874T>C" "r.(?)" "p.(Phe958=)" "" "0000718775" "00020028" "90" "1655" "0" "1655" "0" "c.1655G>T" "r.(?)" "p.(Arg552Met)" "" "0000718776" "00020028" "50" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "" "0000718777" "00020028" "30" "345" "12" "345" "13" "c.345+12_345+13dup" "r.(=)" "p.(=)" "" "0000718778" "00020028" "50" "236" "0" "236" "0" "c.236C>G" "r.(?)" "p.(Pro79Arg)" "" "0000787406" "00020028" "50" "2105" "0" "2105" "0" "c.2105A>G" "r.(?)" "p.(Tyr702Cys)" "13" "0000800593" "00020028" "30" "3769" "0" "3769" "0" "c.3769A>G" "r.(?)" "p.(Thr1257Ala)" "" "0000800594" "00020028" "30" "3391" "14" "3391" "14" "c.3391+14G>C" "r.(=)" "p.(=)" "" "0000800595" "00020028" "30" "2988" "0" "2988" "0" "c.2988G>A" "r.(?)" "p.(Pro996=)" "" "0000800596" "00020028" "50" "2459" "0" "2459" "0" "c.2459A>G" "r.(?)" "p.(Asn820Ser)" "" "0000800597" "00020028" "30" "2268" "0" "2268" "0" "c.2268T>G" "r.(?)" "p.(Ser756Arg)" "" "0000800598" "00020028" "50" "1727" "0" "1727" "0" "c.1727G>T" "r.(?)" "p.(Arg576Ile)" "" "0000800599" "00020028" "50" "1666" "0" "1666" "0" "c.1666G>A" "r.(?)" "p.(Val556Ile)" "" "0000800600" "00020028" "50" "1477" "0" "1477" "0" "c.1477A>G" "r.(?)" "p.(Lys493Glu)" "" "0000800601" "00020028" "50" "1448" "0" "1448" "0" "c.1448C>T" "r.(?)" "p.(Ala483Val)" "" "0000800602" "00020028" "50" "755" "0" "755" "0" "c.755T>C" "r.(?)" "p.(Ile252Thr)" "" "0000800603" "00020028" "30" "551" "0" "551" "0" "c.551A>G" "r.(?)" "p.(Asn184Ser)" "" "0000800604" "00020028" "10" "345" "15" "345" "15" "c.345+15C>T" "r.(=)" "p.(=)" "" "0000815862" "00020028" "70" "1352" "0" "1352" "0" "c.1352C>A" "r.(?)" "p.(Thr451Lys)" "" "0000842126" "00020028" "50" "2973" "0" "2973" "0" "c.2973T>G" "r.(?)" "p.(Phe991Leu)" "" "0000849877" "00020028" "50" "2587" "0" "2587" "0" "c.2587C>A" "r.(?)" "p.(Gln863Lys)" "" "0000849878" "00020028" "50" "800" "0" "811" "0" "c.800_811del" "r.(?)" "p.(Val267_Thr270del)" "" "0000849879" "00020028" "30" "698" "0" "698" "0" "c.698A>G" "r.(?)" "p.(Asn233Ser)" "" "0000858521" "00020028" "30" "2589" "0" "2589" "0" "c.2589A>G" "r.(?)" "p.(Gln863=)" "" "0000858522" "00020028" "50" "2138" "0" "2138" "0" "c.2138G>A" "r.(?)" "p.(Arg713Gln)" "" "0000858523" "00020028" "70" "1321" "0" "1321" "0" "c.1321T>C" "r.(?)" "p.(Cys441Arg)" "" "0000858524" "00020028" "30" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Arg310His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 141 "{{screeningid}}" "{{variantid}}" "0000104480" "0000169334" "0000177906" "0000400807" "0000207172" "0000436819" "0000207173" "0000436820" "0000207174" "0000436821" "0000207175" "0000436822" "0000207176" "0000436823" "0000207177" "0000436824" "0000207178" "0000436825" "0000207179" "0000436826" "0000207180" "0000436827" "0000207181" "0000436828" "0000207182" "0000436829" "0000207183" "0000436830" "0000207184" "0000436831" "0000207185" "0000436832" "0000207186" "0000436833" "0000207187" "0000436834" "0000207188" "0000436835" "0000207189" "0000436836" "0000207190" "0000436837" "0000207191" "0000436838" "0000207192" "0000436839" "0000207193" "0000436840" "0000207194" "0000436841" "0000207195" "0000436842" "0000207196" "0000436843" "0000207197" "0000436844" "0000207198" "0000436845" "0000207199" "0000436846" "0000207200" "0000436847" "0000207201" "0000436848" "0000207202" "0000436849" "0000207203" "0000436850" "0000207204" "0000436851" "0000207205" "0000436852" "0000207206" "0000436853" "0000207207" "0000436854" "0000207208" "0000436855" "0000207209" "0000436856" "0000207210" "0000436857" "0000207211" "0000436858" "0000207212" "0000436859" "0000207213" "0000436860" "0000207214" "0000436861" "0000207215" "0000436862" "0000207216" "0000436863" "0000207217" "0000436864" "0000207218" "0000436865" "0000207219" "0000436866" "0000207219" "0000436870" "0000207220" "0000436867" "0000207221" "0000436868" "0000207222" "0000436869" "0000207223" "0000436871" "0000207224" "0000436872" "0000207225" "0000436873" "0000207226" "0000436874" "0000207227" "0000436875" "0000207228" "0000436876" "0000207229" "0000436877" "0000207230" "0000436878" "0000207231" "0000436879" "0000207232" "0000436880" "0000207233" "0000436881" "0000207234" "0000436882" "0000207235" "0000436883" "0000207236" "0000436884" "0000207237" "0000436885" "0000207238" "0000436886" "0000207239" "0000436887" "0000207240" "0000436888" "0000207241" "0000436889" "0000207242" "0000436890" "0000207243" "0000436891" "0000207244" "0000436892" "0000207245" "0000436893" "0000207246" "0000436894" "0000207247" "0000436895" "0000207248" "0000436896" "0000207249" "0000436897" "0000207250" "0000436898" "0000207251" "0000436899" "0000207252" "0000436900" "0000207253" "0000436901" "0000207254" "0000436902" "0000207255" "0000436903" "0000207256" "0000436904" "0000207257" "0000436905" "0000207258" "0000436906" "0000207259" "0000436907" "0000207260" "0000436908" "0000207261" "0000436909" "0000207262" "0000436910" "0000207263" "0000436911" "0000207264" "0000436912" "0000207265" "0000436913" "0000207266" "0000436914" "0000207267" "0000436915" "0000207268" "0000436916" "0000207268" "0000436917" "0000207269" "0000436918" "0000207270" "0000436919" "0000207271" "0000436920" "0000207272" "0000436921" "0000207273" "0000436922" "0000207274" "0000436923" "0000207275" "0000436924" "0000207276" "0000436925" "0000207277" "0000436926" "0000207278" "0000436927" "0000207279" "0000436928" "0000207280" "0000436929" "0000207281" "0000436930" "0000207282" "0000436931" "0000207283" "0000436932" "0000207284" "0000436933" "0000207285" "0000436934" "0000207286" "0000436935" "0000207287" "0000436936" "0000207288" "0000436937" "0000207289" "0000436938" "0000207290" "0000436939" "0000207291" "0000436940" "0000207292" "0000436941" "0000208799" "0000438771" "0000208846" "0000438842" "0000262271" "0000592567" "0000293904" "0000650593" "0000293905" "0000650594" "0000293906" "0000650595" "0000293907" "0000650596" "0000293909" "0000650598" "0000293910" "0000650599" "0000293911" "0000650600" "0000293912" "0000650601" "0000302511" "0000665800" "0000302643" "0000665988" "0000325862" "0000709016" "0000376055" "0000787406" "0000387728" "0000815862"