### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SPRED1) # 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}}" "SPRED1" "sprouty-related, EVH1 domain containing 1" "15" "q14" "unknown" "NG_008980.1" "UD_132084530347" "" "http://www.LOVD.nl/SPRED1" "" "1" "20249" "161742" "609291" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2016-09-28 16:03:52" "00000" "2025-07-08 13:22:38" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00020222" "SPRED1" "sprouty-related, EVH1 domain containing 1" "001" "NM_152594.2" "" "NP_689807.1" "" "" "" "-335" "6920" "1335" "38545052" "38649450" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00439" "NF1" "neurofibromatosis, type 1 (NF1)" "AD" "162200" "" "" "" "00006" "2014-06-30 13:51:32" "00006" "2021-10-05 14:37:45" "00724" "NFNS" "neurofibromatosis-Noonan syndrome (NFNS)" "AD" "601321" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01159" "NF2" "neurofibromatosis, type 2 (NF-2)" "" "101000" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03028" "LGSS" "Legius syndrome (LGSS)" "AD" "611431" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05509" "-" "cafe-au-lait spots, multiple" "" "114030" "" "" "" "00008" "2018-11-10 16:28:16" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SPRED1" "00139" "SPRED1" "03028" ## Individuals ## Do not remove or alter this header ## ## Count = 285 "{{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}}" "00037166" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037167" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037168" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037169" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037170" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037171" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00205875" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "F" "" "" "" "0" "" "" "" "" "00205876" "" "" "" "1" "" "02253" "{PMID:Spencer 2011:21548021}" "phenotype of affected parent and sibling of the proband described in {PMID21548021:Spencer 2011}" "F" "" "" "" "0" "" "" "" "" "00205877" "" "" "" "1" "" "02253" "{PMID:Pasmant 2009:19366998}" "phenotype of affected parent and 2 siblings of the proband described in {PMID:Pasmant 2009:19366998}" "" "" "" "" "0" "" "" "" "" "00205878" "" "" "" "1" "" "02253" "{PMID:Messiaen 2009:19920235}" "phenotype of affected parent of the proband described in {PMID:Messiaen 2009:19920235}" "M" "" "" "" "0" "" "" "" "" "00205879" "" "" "" "1" "" "02253" "{PMID:Messiaen 2009:19920235}" "phenotype of affected parent of the proband described in {PMID:Messiaen 2009:19920235}" "F" "" "" "" "0" "" "" "" "" "00205880" "" "" "" "1" "" "02253" "Pasmant, Paris" "" "M" "" "" "" "0" "" "" "" "" "00205881" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "M" "" "" "" "0" "" "" "" "" "00205882" "" "" "" "1" "" "02253" "Brems et al, 2012" "" "M" "" "" "" "0" "" "" "" "" "00205883" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "also carries NF1 mutation c.3708G>A; also found in her brother who has NO signs" "F" "" "" "" "0" "" "" "" "" "00205884" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "F" "" "" "" "0" "" "" "" "" "00205885" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "F" "" "" "" "0" "" "" "" "" "00205886" "" "" "" "1" "" "00235" "Eva Trevisson, University of Padova, Italy" "" "F" "no" "Italy" "" "0" "" "" "" "" "00205887" "" "" "" "1" "" "02253" "Brems et al, 2012" "" "M" "" "" "" "0" "" "" "" "" "00205888" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "M" "" "" "" "0" "" "" "white" "" "00205889" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "F" "" "" "" "0" "" "" "" "" "00205890" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "M" "" "" "" "0" "" "" "" "" "00205891" "" "" "" "1" "" "02253" "{PMID:Spencer 2011:21548021}" "phenotype of affected parent of the proband described in {PMID21548021:Spencer 2011}" "F" "" "" "" "0" "" "" "" "" "00205892" "" "" "" "1" "" "02253" "Van Minkelen, Erasmus U, Rotterdam" "" "M" "" "" "" "0" "" "" "" "" "00205893" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "M" "" "" "" "0" "" "" "" "" "00205894" "" "" "" "1" "" "02253" "{PMID:Messiaen 2009:19920235}" "" "" "" "" "" "0" "" "" "" "" "00205895" "" "" "" "1" "" "02253" "{PMID:Pasmant 2009:19366998}" "phenotype of affected parent and 1 sibling of the proband described in {PMID:Pasmant 2009:19366998}" "M" "" "" "" "0" "" "" "" "" "00205896" "" "" "" "1" "" "02253" "{PMID:Messiaen 2009:19920235}" "" "" "" "" "" "0" "" "" "" "" "00205897" "" "" "" "1" "" "02253" "{PMID:Spurlock 2009:19443465}" "phenotype of affected child of proband described in {PMID:Spurlock 2009:19443465}" "F" "" "" "" "0" "" "" "" "" "00205898" "" "" "" "1" "" "02253" "{PMID:Spencer 2011:21548021}" "" "M" "" "" "" "0" "" "" "" "" "00205899" "" "" "" "1" "" "02253" "{PMID:Spencer 2011:21548021}" "" "M" "" "" "" "0" "" "" "" "" "00205900" "" "" "" "1" "" "02253" "{PMID:Spencer 2011:21548021}" "" "F" "" "" "" "0" "" "" "" "" "00205901" "" "" "" "1" "" "02253" "Wimmer, MUI" "" "F" "" "" "" "0" "" "" "" "" "00205902" "" "" "" "1" "" "00697" "{PMID:Pasmant 2014:25074460}" "phenotype of affected parent and 1 sibling of the proband described in {PMID:Pasmant 2009:19366998}; no additional second somatic mutation found in the tumor cells of the proband" "" "" "" "" "0" "" "" "" "" "00205903" "" "" "" "1" "" "00697" "{PMID:Pasmant 2014:25074460}" "phenotype of affected parent and 1 sibling of the proband described in {PMID:Pasmant 2009:19366998}; no additional second somatic mutation found in the tumor cells of the proband" "" "" "" "" "0" "" "" "" "" "00205904" "" "" "" "1" "" "00697" "{PMID:Pasmant 2014:25074460}" "phenotype of affected parent and 1 sibling of the proband described in {PMID:Pasmant 2009:19366998}; no additional second somatic mutation found in the tumor cells of the proband" "" "" "" "" "0" "" "" "" "" "00205906" "" "" "" "1" "" "02253" "{PMID:Messiaen 2009:19920235}" "" "M" "" "" "" "0" "" "" "" "" "00205907" "" "" "" "1" "" "02253" "{PMID:Messiaen 2009:19920235}" "" "M" "" "" "" "0" "" "" "" "" "00205908" "" "" "" "1" "" "02253" "{PMID:Muram-Zborovski 2010:20179001}" "" "M" "" "" "" "0" "" "" "" "" "00205909" "" "" "" "1" "" "02253" "{PMID:Denayer 2011a:21089071}" "" "F" "" "" "" "0" "" "" "" "" "00205910" "" "" "" "1" "" "02253" "{PMID:Spencer 2011:21548021}" "" "M" "" "" "" "0" "" "" "" "" "00205911" "" "" "" "1" "" "02253" "{PMID:Spencer 2011:21548021}" "" "F" "" "" "" "0" "" "" "" "" "00205912" "" "" "" "1" "" "02253" "Brems et al, 2012" "" "" "" "" "" "0" "" "" "" "" "00205913" "" "" "" "1" "" "02253" "Brems et al, 2012" "" "F" "" "" "" "0" "" "" "" "" "00205914" "" "" "" "1" "" "02253" "{PMID:Messiaen 2009:19920235}" "unknown (father unavailable)" "F" "" "" "" "0" "" "" "" "" "00205915" "" "" "" "1" "" "02253" "{PMID:Brems 2007:17704776}" "phenotype of 6 affected relatives is debribed in {PMID:Brems 2007:17704776}" "M" "" "" "" "0" "" "" "" "" "00205916" "" "" "" "1" "" "02253" "{PMID:Messiaen 2009:19920235}" "" "F" "" "" "" "0" "" "" "" "" "00205917" "" "" "" "1" "" "02253" "{PMID:Messiaen 2009:19920235}" "phenotype of 2 affected siblings of the proband described in {PMID:Messiaen 2009:19920235}" "F" "" "" "" "0" "" "" "" "" "00205918" "" "" "" "1" "" "02253" "{PMID:Denayer 2011a:21089071}" "phenotype of affected child of the proband described in {PMID21089071:Denayer 2011a}" "M" "" "" "" "0" "" "" "" "" "00205919" "" "" "" "1" "" "02253" "{PMID:Spencer 2011:21548021}" "" "F" "" "" "" "0" "" "" "" "" "00205920" "" "" "" "1" "" "02253" "{PMID:Spencer 2011:21548021}" "" "" "" "" "" "0" "" "" "" "" "00205921" "" "" "" "1" "" "02253" "{PMID:Spencer 2011:21548021}" "" "" "" "" "" "0" "" "" "" "" "00205922" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "F" "" "" "" "0" "" "" "" "" "00205923" "" "" "" "1" "" "00697" "{PMID:Pasmant 2014:25074460}" "" "" "" "" "" "0" "" "" "" "" "00205924" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "F" "" "" "" "0" "" "" "" "" "00205925" "" "" "" "1" "" "02253" "{PMID:Spencer 2011:21548021}" "" "F" "" "" "" "0" "" "" "" "" "00205926" "" "" "" "1" "" "02253" "{PMID:Spencer 2011:21548021}" "" "M" "" "" "" "0" "" "" "" "" "00205927" "" "" "" "1" "" "02253" "{PMID:Spencer 2011:21548021}" "" "F" "" "" "" "0" "" "" "" "" "00205928" "" "" "" "1" "" "02253" "{PMID:Spencer 2011:21548021}" "" "" "" "" "" "0" "" "" "" "" "00205929" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "F" "" "" "" "0" "" "" "" "" "00205930" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "M" "" "" "" "0" "" "" "" "" "00205931" "" "" "" "1" "" "02253" "{PMID:Denayer 2011a:21089071}" "" "M" "" "" "" "0" "" "" "" "" "00205932" "" "" "" "1" "" "02253" "{PMID:Denayer 2011a:21089071}" "" "M" "" "" "" "0" "" "" "" "" "00205933" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "F" "" "" "" "0" "" "" "" "" "00205934" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "M" "" "" "" "0" "" "" "" "" "00205935" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "M" "" "" "" "0" "" "" "" "" "00205936" "" "" "" "1" "" "02253" "{PMID:Spencer 2011:21548021}" "carries a pathogenic NF2 mutation" "" "" "India" "" "0" "" "" "Indian" "" "00205937" "" "" "" "1" "" "02253" "{PMID:Spencer 2011:21548021}" "" "M" "" "" "" "0" "" "" "" "" "00205938" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "F" "" "" "" "0" "" "" "" "" "00205939" "" "" "" "1" "" "02253" "{PMID:Spurlock 2009:19443465}" "phenotype of affected son and 2 grandchildren of proband described in {PMID:Spurlock 2009:19443465} dbSNP: rs121434318" "M" "" "" "" "0" "" "" "" "" "00205940" "" "" "" "1" "" "02253" "Brems et al, 2012" "" "" "" "" "" "0" "" "" "" "" "00205941" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "F" "" "" "" "0" "" "" "" "" "00205942" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "F" "" "" "" "0" "" "" "" "" "00205943" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "F" "" "" "" "0" "" "" "" "" "00205944" "" "" "" "1" "" "02253" "{PMID:Brems 2007:17704776}" "" "-" "" "" "" "0" "" "" "" "" "00205945" "" "" "" "1" "" "02253" "{PMID:Pasmant 2009:19366998}" "; phenotype of 4 affected first- and second-degree relatives of proband described in {PMID:Pasmant 2009:19366998}" "M" "" "" "" "0" "" "" "" "" "00205946" "" "" "" "1" "" "02253" "{PMID:Denayer 2011a:21089071}" "phenotype of affected son of proband described in {PMID21089071:Denayer 2011a}" "F" "" "" "" "0" "" "" "" "" "00205947" "" "" "" "1" "" "02253" "{PMID:Denayer 2011a:21089071}" "" "M" "" "" "" "0" "" "" "" "" "00205948" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "M" "" "" "" "0" "" "" "" "" "00205949" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "F" "" "" "" "0" "" "" "" "" "00205950" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "F" "" "" "" "0" "" "" "" "" "00205951" "" "" "" "1" "" "02253" "Wimmer, MUI" "" "M" "" "" "" "0" "" "" "" "" "00205952" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "M" "" "" "" "0" "" "" "" "" "00205953" "" "" "" "1" "" "02253" "{PMID:Spurlock 2009:19443465}" "phenotype of affected child of proband described in {PMID:Spurlock 2009:19443465}" "M" "" "" "" "0" "" "" "" "" "00205954" "" "" "" "1" "" "02253" "{PMID:Messiaen 2009:19920235}" "" "" "" "" "" "0" "" "" "" "" "00205955" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "M" "" "" "" "0" "" "" "" "" "00205956" "" "" "" "1" "" "02253" "{PMID:Spencer 2011:21548021}" "" "M" "" "" "" "0" "" "" "" "" "00205957" "" "" "" "1" "" "02253" "{PMID:Messiaen 2009:19920235}" "" "M" "" "" "" "0" "" "" "" "" "00205958" "" "" "" "1" "" "02253" "Pasmant, Paris" "" "M" "" "" "" "0" "" "" "" "" "00205959" "" "" "" "1" "" "02253" "Brems et al, 2012" "" "M" "" "" "" "0" "" "" "" "" "00205960" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "also carries NF1 mutation c.5944-2A>G . Both inherited from affected parent! Not clear if SPRED1 makes any contribution." "M" "" "" "" "0" "" "" "" "" "00205961" "" "" "" "1" "" "02253" "{PMID:Messiaen 2009:19920235}" "" "" "" "" "" "0" "" "" "" "" "00205963" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "M" "" "" "" "0" "" "" "" "" "00205964" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "F" "" "" "" "0" "" "" "" "" "00205965" "" "" "" "1" "" "02253" "Brems et al, 2012" "" "F" "" "" "" "0" "" "" "" "" "00205966" "" "" "" "1" "" "02253" "Pasmant, Paris" "" "M" "" "" "" "0" "" "" "" "" "00205967" "" "" "" "1" "" "02253" "{PMID:Denayer 2011a:21089071}" "" "F" "" "" "" "0" "" "" "" "" "00205968" "" "" "" "1" "" "02253" "{PMID:Spencer 2011:21548021}" "" "M" "" "" "" "0" "" "" "" "" "00205969" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "F" "" "" "" "0" "" "" "" "" "00205970" "" "" "" "1" "" "02253" "{PMID:Spencer 2011:21548021}" "" "" "" "" "" "0" "" "" "" "" "00205971" "" "" "" "1" "" "02253" "Brems et al, 2012" "" "M" "" "" "" "0" "" "" "" "" "00205972" "" "" "" "1" "" "02253" "{PMID:Messiaen 2009:19920235}" "phenotype of affected parent of the proband described in {PMID:Messiaen 2009:19920235}" "M" "" "" "" "0" "" "" "" "" "00205973" "" "" "" "1" "" "02253" "{PMID:Spencer 2011:21548021}" "" "F" "" "" "" "0" "" "" "" "" "00205974" "" "" "" "1" "" "02253" "{PMID:Spencer 2011:21548021}" "" "F" "" "" "" "0" "" "" "" "" "00205975" "" "" "" "1" "" "02253" "{PMID:Messiaen 2009:19920235}" "phenotype of 2 affected relatives of the proband described in {PMID:Messiaen 2009:19920235}" "M" "" "" "" "0" "" "" "" "" "00205976" "" "" "" "1" "" "02253" "{PMID:Messiaen 2009:19920235}" "" "" "" "" "" "0" "" "" "" "" "00205977" "" "" "" "1" "" "02253" "{PMID:Denayer 2011a:21089071}" "phenotype of affected daughter and granddaughter of the proband described in {PMID21089071:Denayer 2011a}" "F" "" "" "" "0" "" "" "" "" "00205978" "" "" "" "1" "" "02253" "Brems et al, 2012" "" "" "" "" "" "0" "" "" "" "" "00205979" "" "" "" "1" "" "02253" "{PMID:Spencer 2011:21548021}" "" "F" "" "" "" "0" "" "" "" "" "00205980" "" "" "" "1" "" "00697" "{PMID:Pasmant 2014:25074460}" "" "" "" "" "" "0" "" "" "" "" "00205981" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "F" "" "" "" "0" "" "" "" "" "00205982" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "also carries p.Ile116Asn" "M" "" "" "" "0" "" "" "" "" "00205983" "" "" "" "1" "" "02253" "{PMID:Brems 2007:17704776}" "phenotype of 20 affected relatives of the proband described in {PMID:Brems 2007:17704776}" "M" "" "" "" "0" "" "" "" "" "00205984" "" "" "" "1" "" "02253" "{PMID:Brems 2007:17704776}" "phenotype of 1 affected child of the proband described in {PMID:Brems 2007:17704776}" "M" "" "" "" "0" "" "" "" "" "00205985" "" "" "" "1" "" "02253" "{PMID:Messiaen 2009:19920235}" "" "" "" "" "" "0" "" "" "" "" "00205986" "" "" "" "1" "" "02253" "{PMID:Denayer 2011a:21089071}" "phenotype of 3 affected relatives of the proband described in {PMID21089071:Denayer 2011a}" "F" "" "" "" "0" "" "" "" "" "00205987" "" "" "" "1" "" "02253" "{PMID:Laycock-van Spyk 2011:21649642}" "" "M" "" "" "" "0" "" "" "" "" "00205988" "" "" "" "1" "" "02253" "Brems et al, 2012" "" "M" "" "" "" "0" "" "" "" "" "00205989" "" "" "" "1" "" "02253" "{PMID:Spencer 2011:21548021}" "" "M" "" "" "" "0" "" "" "" "" "00205990" "" "" "" "1" "" "02253" "{PMID:Spencer 2011:21548021}" "" "M" "" "" "" "0" "" "" "" "" "00205991" "" "" "" "1" "" "02253" "Messiaen, UAB" "" "M" "" "" "" "0" "" "" "" "" "00205992" "" "" "" "1" "" "02253" "Van Minkelen, Erasmus U, Rotterdam" "phenotype of 20 affected relatives of the proband described in {PMID:Brems 2007:17704776}" "M" "" "" "" "0" "" "" "" "" "00205993" "" "" "" "1" "" "00697" "{PMID:Pasmant 2014:25074460}" "phenotype of 20 affected relatives of the proband described in {PMID:Brems 2007:17704776}" "" "" "" "" "0" "" "" "" "" "00205994" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "phenotype of 20 affected relatives of the proband described in {PMID:Brems 2007:17704776}" "M" "" "" "" "0" "" "" "" "" "00205995" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "phenotype of 20 affected relatives of the proband described in {PMID:Brems 2007:17704776}" "F" "" "" "" "0" "" "" "" "" "00205996" "" "" "" "1" "" "02253" "{PMID:Denayer 2011a:21089071}" "proband also has marfan syndrome, FBN1 mutation positive." "M" "" "" "" "0" "" "" "" "" "00205997" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "F" "" "" "" "0" "" "" "" "" "00205998" "" "" "" "1" "" "00697" "{PMID:Pasmant 2014:25074460}" "" "" "" "" "" "0" "" "" "" "" "00205999" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "F" "" "" "" "0" "" "" "" "" "00206000" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "M" "" "" "" "0" "" "" "" "" "00206001" "" "" "" "1" "" "02253" "Van Minkelen, Erasmus U, Rotterdam" "" "F" "" "" "" "0" "" "" "" "" "00206002" "" "" "" "1" "" "02253" "Brems et al, 2012" "" "" "" "" "" "0" "" "" "" "" "00206003" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "F" "" "" "" "0" "" "" "" "" "00206004" "" "" "" "1" "" "02253" "Brems et al, 2012" "this patient also carries a duplication on 15q26.1 encompassing at least 857kb including 18 annotated genes (aCGH)" "" "" "" "" "0" "" "" "" "" "00206005" "" "" "" "1" "" "02253" "Pasmant, Paris" "" "F" "" "" "" "0" "" "" "" "" "00206006" "" "" "" "1" "" "02253" "Pasmant, Paris" "" "F" "" "" "" "0" "" "" "" "" "00206007" "" "" "" "1" "" "00697" "{PMID:Pasmant 2014:25074460}" "" "" "" "" "" "0" "" "" "" "" "00206008" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "F" "" "" "" "0" "" "" "" "" "00206009" "" "" "" "1" "" "02253" "Pasmant, Paris" "" "F" "" "" "" "0" "" "" "" "" "00206011" "" "" "" "1" "" "02253" "{PMID:Brems 2007:17704776}" "phenotype of 3 affected children of the proband described in {PMID:Brems 2007:17704776}" "F" "" "" "" "0" "" "" "" "" "00206012" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "M" "" "" "" "0" "" "" "" "" "00206013" "" "" "" "1" "" "02253" "Messiaen, UAB" "" "F" "" "" "" "0" "" "" "" "" "00206014" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "" "" "" "" "0" "" "" "" "" "00206015" "" "" "" "1" "" "02253" "Messiaen, UAB" "" "M" "" "" "" "0" "" "" "" "" "00206016" "" "" "" "1" "" "02253" "{PMID:Messiaen 2009:19920235}" "" "-" "" "" "" "0" "" "" "" "" "00206017" "" "" "" "1" "" "02253" "{PMID:Messiaen 2009:19920235}" "" "" "" "" "" "0" "" "" "" "" "00206018" "" "" "" "1" "" "02253" "Brems et al, 2012" "" "" "" "" "" "0" "" "" "" "" "00206019" "" "" "" "1" "" "02253" "{PMID:Laycock-van Spyk 2011:21649642}" "" "M" "" "" "" "0" "" "" "" "" "00206020" "" "" "" "1" "" "02253" "{PMID:Messiaen 2009:19920235}" "" "" "" "" "" "0" "" "" "" "" "00206021" "" "" "" "1" "" "02253" "{PMID:Spencer 2011:21548021}" "" "M" "" "" "" "0" "" "" "" "" "00206022" "" "" "" "1" "" "02253" "{PMID:Laycock-van Spyk 2011:21649642}" "" "M" "" "" "" "0" "" "" "" "" "00206023" "" "" "" "1" "" "02253" "Messiaen, UAB" "" "M" "" "" "" "0" "" "" "" "" "00206024" "" "" "" "1" "" "02253" "{PMID:Spencer 2011:21548021}" "" "F" "" "" "" "0" "" "" "" "" "00206025" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "M" "" "" "" "0" "" "" "" "" "00206026" "" "" "" "1" "" "02253" "{PMID:Messiaen 2009:19920235}" "" "" "" "" "" "0" "" "" "" "" "00206027" "" "" "" "1" "" "02253" "{PMID:Messiaen 2009:19920235}" "" "" "" "" "" "0" "" "" "" "" "00206028" "" "" "" "1" "" "02253" "{PMID:Denayer 2011a:21089071}" "phenotype of 3 affected siblings of the proband described in {PMID21089071:Denayer 2011a}" "M" "" "" "" "0" "" "" "" "" "00206029" "" "" "" "1" "" "02253" "{PMID:Muram-Zborovski 2010:20179001}" "" "-" "" "" "" "0" "" "" "" "" "00206030" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "F" "" "" "" "0" "" "" "" "" "00206031" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished novel mutation" "" "" "" "" "" "0" "" "" "" "" "00206032" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "M" "" "" "" "0" "" "" "" "" "00206033" "" "" "" "1" "" "02253" "{PMID:Messiaen 2009:19920235}" "" "" "" "" "" "0" "" "" "" "" "00206034" "" "" "" "1" "" "02253" "{PMID:Messiaen 2009:19920235}" "" "" "" "" "" "0" "" "" "" "" "00206035" "" "" "" "1" "" "02253" "{PMID:Spencer 2011:21548021}" "" "F" "" "" "" "0" "" "" "" "" "00206036" "" "" "" "1" "" "02253" "{PMID:Messiaen 2009:19920235}" "" "F" "" "" "" "0" "" "" "" "" "00206037" "" "" "" "1" "" "02253" "{PMID:Spencer 2011:21548021}" "" "M" "" "" "" "0" "" "" "" "" "00206038" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "patient carries a mosaic NF1 truncating mutation" "" "" "" "" "0" "" "" "" "" "00206039" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "patient carries an NF1 pathogenic missense mutation" "" "" "" "" "0" "" "" "" "" "00206040" "" "" "" "1" "" "02253" "{PMID:Pasmant 2009:19366998}" "phenotype of 6 affected first- and second-degree relatives of the proband described in {PMID:Pasmant 2009:19366998}" "M" "" "" "" "0" "" "" "" "" "00206041" "" "" "" "1" "" "02253" "{PMID:Brems 2007:17704776}" "phenotype of 2 affected children of the proband described in {PMID:Brems 2007:17704776}" "M" "" "" "" "0" "" "" "" "" "00206042" "" "" "" "1" "" "02253" "{PMID:Spencer 2011:21548021}" "" "" "" "" "" "0" "" "" "" "" "00206043" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "-" "" "" "" "0" "" "" "" "" "00206044" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "M" "" "" "" "0" "" "" "" "" "00206045" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "M" "" "" "" "0" "" "" "" "" "00206046" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "F" "" "" "" "0" "" "" "" "" "00206047" "" "" "" "1" "" "02253" "{PMID:Messiaen 2009:19920235}" "" "" "" "" "" "0" "" "" "" "" "00206048" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "M" "" "" "" "0" "" "" "" "" "00206049" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "M" "" "" "" "0" "" "" "" "" "00206050" "" "" "" "1" "" "02253" "Pasmant, Paris" "" "F" "" "" "" "0" "" "" "" "" "00206051" "" "" "" "1" "" "02253" "Brems et al, 2012" "" "" "" "" "" "0" "" "" "" "" "00206052" "" "" "" "1" "" "02253" "Brems et al, 2012" "" "M" "" "" "" "0" "" "" "" "" "00206053" "" "" "" "1" "" "02253" "Messiaen, UAB" "" "M" "" "" "" "0" "" "" "" "" "00206054" "" "" "" "1" "" "02253" "Pasmant, Paris" "" "M" "" "" "" "0" "" "" "" "" "00206055" "" "" "" "1" "" "02253" "Van Minkelen, Erasmus U, Rotterdam" "" "M" "" "" "" "0" "" "" "" "" "00206056" "" "" "" "1" "" "02253" "Messiaen, UAB" "" "M" "" "" "" "0" "" "" "" "" "00206057" "" "" "" "1" "" "02253" "{PMID:Spurlock 2009:19443465}" "phenotype of affected child of the proband described in {PMID:Spurlock 2009:19443465}" "M" "" "" "" "0" "" "" "" "" "00206058" "" "" "" "1" "" "02253" "{PMID:Messiaen 2009:19920235}" "" "" "" "" "" "0" "" "" "" "" "00206059" "" "" "" "1" "" "00697" "{PMID:Pasmant 2014:25074460}" "" "" "" "" "" "0" "" "" "" "" "00206060" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "F" "" "" "" "0" "" "" "" "" "00206061" "" "" "" "1" "" "02253" "Brems et al, 2012" "" "" "" "" "" "0" "" "" "" "" "00206062" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "F" "" "" "" "0" "" "" "" "" "00206063" "" "" "" "1" "" "02253" "Van Minkelen, Erasmus U, Rotterdam" "" "M" "" "" "" "0" "" "" "" "" "00206064" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "F" "" "" "" "0" "" "" "" "" "00206065" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "M" "" "" "" "0" "" "" "" "" "00206066" "" "" "" "1" "" "02253" "{PMID:Messiaen 2009:19920235}" "phenotype of affected parent of the proband described in {PMID:Messiaen 2009:19920235}" "F" "" "" "" "0" "" "" "" "" "00206067" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "M" "" "" "" "0" "" "" "" "" "00206068" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "F" "" "" "" "0" "" "" "" "" "00206069" "" "" "" "1" "" "02253" "{PMID:Spencer 2011:21548021}" "" "F" "" "" "" "0" "" "" "" "" "00206070" "" "" "" "1" "" "02253" "{PMID:Spencer 2011:21548021}" "" "" "" "" "" "0" "" "" "" "" "00206071" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "" "" "" "" "0" "" "" "" "" "00206072" "" "" "" "1" "" "02253" "Van Minkelen, Erasmus U, Rotterdam" "" "M" "" "" "" "0" "" "" "" "" "00206073" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "M" "" "" "" "0" "" "" "" "" "00206074" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "Carries a pathogenic truncating NF1 mutation" "M" "" "" "" "0" "" "" "" "" "00206075" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "F" "" "" "" "0" "" "" "" "" "00206076" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "M" "" "" "" "0" "" "" "" "" "00206077" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "F" "" "" "" "0" "" "" "" "" "00206078" "" "" "" "1" "" "02253" "{PMID:Messiaen 2009:19920235}" "" "F" "" "" "" "0" "" "" "" "" "00206079" "" "" "" "1" "" "02253" "{PMID:Denayer 2011a:21089071}" "" "F" "" "" "" "0" "" "" "" "" "00206080" "" "" "" "1" "" "02253" "{PMID:Messiaen 2009:19920235}" "phenotype of affected parent and greatparent of the proband described in {PMID:Messiaen 2009:19920235}" "F" "" "" "" "0" "" "" "" "" "00206081" "" "" "" "1" "" "02253" "{PMID:Messiaen 2009:19920235}" "" "F" "" "" "" "0" "" "" "" "" "00206082" "" "" "" "1" "" "02253" "{PMID:Messiaen 2009:19920235}" "phenotype of affected sibling of the proband described in {PMID:Messiaen 2009:19920235}" "F" "" "" "" "0" "" "" "" "" "00206083" "" "" "" "1" "" "02253" "{PMID:Messiaen 2009:19920235}" "" "" "" "" "" "0" "" "" "" "" "00206084" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "M" "" "" "" "0" "" "" "" "" "00206085" "" "" "" "1" "" "02253" "{PMID:Laycock-van Spyk 2011:21649642}" "" "" "" "" "" "0" "" "" "" "" "00206086" "" "" "" "1" "" "02253" "{PMID:Spencer 2011:21548021}" "" "" "" "" "" "0" "" "" "" "" "00206087" "" "" "" "1" "" "02253" "Pasmant, Paris" "" "M" "" "" "" "0" "" "" "" "" "00206088" "" "" "" "1" "" "02253" "Wimmer, MUI" "" "F" "" "" "" "0" "" "" "" "" "00206089" "" "" "" "1" "" "02253" "{PMID:Spencer 2011:21548021}" "" "F" "" "" "" "0" "" "" "" "" "00206090" "" "" "" "1" "" "02253" "{PMID:Denayer 2011a:21089071}" "phenotype of 2 affected children of proband described in {PMID21089071:Denayer 2011a}" "M" "" "" "" "0" "" "" "" "" "00206091" "" "" "" "1" "" "02253" "{PMID:Laycock-van Spyk 2011:21649642}" "phenotype of 4 affected children of the proband described in {PMID21649642:Laycock-van Spyk 2011}" "F" "" "" "" "0" "" "" "" "" "00206092" "" "" "" "1" "" "02253" "Van Minkelen, Erasmus U, Rotterdam" "" "M" "" "" "" "0" "" "" "" "" "00206093" "" "" "" "1" "" "02253" "{PMID:Spurlock 2009:19443465}" "" "M" "" "" "" "0" "" "" "" "" "00206094" "" "" "" "1" "" "02253" "{PMID:Pasmant 2009:19366998}" "" "F" "" "" "" "0" "" "" "" "" "00206095" "" "" "" "1" "" "02253" "{PMID:Messiaen 2009:19920235}" "" "" "" "" "" "0" "" "" "" "" "00206096" "" "" "" "1" "" "02253" "{PMID:Denayer 2011a:21089071}" "phenotype of affected child of proband described in {PMID21089071:Denayer 2011a}" "M" "" "" "" "0" "" "" "" "" "00206097" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "F" "" "" "" "0" "" "" "" "" "00206098" "" "" "" "1" "" "02253" "{PMID:Spencer 2011:21548021}" "" "F" "" "" "" "0" "" "" "" "" "00206099" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "M" "" "" "" "0" "" "" "" "" "00206100" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "M" "" "" "" "0" "" "" "" "" "00206101" "" "" "" "1" "" "02253" "{PMID:Spencer 2011:21548021}" "" "F" "" "" "" "0" "" "" "" "" "00206102" "" "" "" "1" "" "02253" "{PMID:Spencer 2011:21548021}" "" "" "" "" "" "0" "" "" "" "" "00206103" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "M" "" "" "" "0" "" "" "" "" "00206104" "" "" "" "1" "" "02253" "{PMID:Messiaen 2009:19920235}" "" "-" "" "" "" "0" "" "" "" "" "00206105" "" "" "" "1" "" "02253" "{PMID:Spurlock 2009:19443465}" "" "M" "" "" "" "0" "" "" "" "" "00206106" "" "" "" "1" "" "02253" "{PMID:Messiaen 2009:19920235}" "phenotype of affected child of the proband described in{PMID:Messiaen 2009:19920235}" "F" "" "" "" "0" "" "" "" "" "00206107" "" "" "" "1" "" "02253" "{PMID:Messiaen 2009:19920235}" "phenotype of affected parent and greatparent of the proband described in {PMID:Messiaen 2009:19920235}" "F" "" "" "" "0" "" "" "" "" "00206108" "" "" "" "1" "" "02253" "{PMID:Denayer 2011a:21089071}" "phenotype of affected child of proband described in {PMID21089071:Denayer 2011a}" "F" "" "" "" "0" "" "" "" "" "00206109" "" "" "" "1" "" "02253" "Brems et al, 2012" "" "M" "" "" "" "0" "" "" "" "" "00206110" "" "" "" "1" "" "02253" "Brems et al, 2012" "" "F" "" "" "" "0" "" "" "" "" "00206111" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "F" "" "" "" "0" "" "" "" "" "00206112" "" "" "" "1" "" "00697" "{PMID:Pasmant 2014:25074460}" "" "" "" "" "" "0" "" "" "" "" "00206113" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "F" "" "" "" "0" "" "" "" "" "00206114" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "F" "" "" "" "0" "" "" "" "" "00206115" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "M" "" "" "" "0" "" "" "" "" "00206116" "" "" "" "1" "" "02253" "{PMID:Messiaen 2009:19920235}" "" "" "" "" "" "0" "" "" "" "" "00206117" "" "" "" "1" "" "02253" "{PMID:Spencer 2011:21548021}" "both families Hispanic" "M" "" "" "" "0" "" "" "" "" "00206118" "" "" "" "1" "" "02253" "{PMID:Messiaen 2009:19920235}" "" "F" "" "" "" "0" "" "" "" "" "00206119" "" "" "" "1" "" "02253" "Brems et al, 2012" "" "" "" "" "" "0" "" "" "" "" "00206120" "" "" "" "1" "" "02253" "{PMID:Messiaen 2009:19920235}" "" "M" "" "" "" "0" "" "" "" "" "00206121" "" "" "" "1" "" "02253" "{PMID:Messiaen 2009:19920235}" "phenotype of affected parent of the proband described in {PMID:Messiaen 2009:19920235}" "M" "" "" "" "0" "" "" "" "" "00206122" "" "" "" "1" "" "02253" "{PMID:Spencer 2011:21548021}" "" "F" "" "" "" "0" "" "" "" "" "00206123" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "" "M" "" "" "" "0" "" "" "" "" "00206124" "" "" "" "1" "" "02253" "{PMID:Messiaen 2009:19920235}" "phenotype of affected parent of the proband described in {PMID:Messiaen 2009:19920235}" "F" "" "" "" "0" "" "" "" "" "00206125" "" "" "" "1" "" "02253" "{PMID:Messiaen 2009:19920235}" "phenotype of sibling and affected parent of the proband described in{PMID:Messiaen 2009:19920235}" "M" "" "" "" "0" "" "" "" "" "00206126" "" "" "" "1" "" "02253" "{PMID:Spencer 2011:21548021}" "" "F" "" "" "" "0" "" "" "" "" "00206127" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished novel mutation" "" "M" "" "" "" "0" "" "" "" "" "00206128" "" "" "" "1" "" "02253" "Brems et al, 2012" "" "M" "" "" "" "0" "" "" "" "" "00206129" "" "" "" "1" "" "02253" "Brems et al, 2012" "SPRED1 mutation was found in a father and son who both also carried a clearcut pathogenic and recurrent NF1 mutation" "M" "" "" "" "0" "" "" "" "" "00206130" "" "" "" "1" "" "02253" "{PMID:Laycock-van Spyk 2011:21649642}" "" "M" "" "" "" "0" "" "" "" "" "00206131" "" "" "" "1" "" "02253" "{PMID:Messiaen 2009:19920235}" "" "" "" "" "" "0" "" "" "" "" "00206132" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished" "Fam. Also carries NF1 c.4769G>T; p.R1590Leu - mom is 38y with multiple CALMs and skin fold freckling and also carries BOTH the NF1 and SPRED1 variant" "M" "" "" "" "0" "" "" "" "" "00206133" "" "" "" "1" "" "03012" "cornel.popovici@ap-hm.fr" "" "M" "" "" "" "0" "" "" "" "" "00206134" "" "" "" "1" "" "02253" "Messiaen UAB, unpublished novel mutation" "" "" "" "" "" "0" "" "" "" "" "00206135" "" "" "" "1" "" "02253" "{PMID:Spencer 2011:21548021}" "" "M" "" "" "" "0" "" "" "" "" "00206136" "" "" "" "1" "" "02253" "Brems et al, 2012" "" "" "" "" "" "0" "" "" "" "" "00206137" "" "" "" "1" "" "02253" "Brems et al, 2012" "" "" "" "" "" "0" "" "" "" "" "00206138" "" "" "" "1" "" "02253" "{PMID:Spencer 2011:21548021}" "" "M" "" "" "" "0" "" "" "" "" "00206139" "" "" "" "1" "" "02253" "Brems et al, 2012" "" "F" "" "" "" "0" "" "" "" "" "00291186" "" "" "" "18" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00324495" "" "" "" "1" "" "01164" "" "" "F" "?" "" "" "0" "" "" "" "173925" "00377163" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "181704" "00383051" "" "" "" "1" "" "04161" "" "" "" "" "" "" "" "" "" "" "" "00408072" "" "" "" "1" "" "01164" "" "" "M" "?" "Germany" "" "0" "" "" "" "190948" "00451583" "" "" "" "1" "" "03565" "{PMID:Chelleri 2024:39031930}" "" "M" "" "Italy" "" "0" "" "" "" "PatI-1" "00451584" "" "" "" "1" "" "03565" "{PMID:Chelleri 2024:39031930}" "" "F" "" "Italy" "" "" "" "" "" "PatII-2" "00451585" "" "" "" "1" "" "03565" "{PMID:Chelleri 2024:39031930}" "" "M" "" "Italy" "" "" "" "" "" "PatIII-3" "00451586" "" "" "" "1" "" "03565" "{PMID:Chelleri 2024:39031930}" "" "F" "" "Italy" "" "" "" "" "" "PatIV-4" "00451587" "" "" "" "1" "" "03565" "{PMID:Chelleri 2024:39031930}" "" "M" "" "Italy" "" "" "" "" "" "PatV-5" "00451588" "" "" "" "1" "" "03565" "{PMID:Chelleri 2024:39031930}" "" "F" "" "Italy" "" "0" "" "" "" "PatVI-6" "00451589" "" "" "" "1" "" "03565" "{PMID:Chelleri 2024:39031930}" "" "M" "" "Italy" "" "" "" "" "" "PatVII-7" "00451590" "" "" "" "1" "" "03565" "{PMID:Chelleri 2024:39031930}" "" "F" "" "Italy" "" "" "" "" "" "PatVIII-8" "00451591" "" "" "" "1" "" "03565" "{PMID:Chelleri 2024:39031930}" "" "F" "" "Italy" "" "" "" "" "" "PatIX-9" "00451592" "" "" "" "1" "" "03565" "{PMID:Chelleri 2024:39031930}" "" "F" "" "Italy" "" "" "" "" "" "PatX-10" "00451593" "" "" "" "1" "" "03565" "{PMID:Chelleri 2024:39031930}" "" "M" "" "Italy" "" "" "" "" "" "PatXI-11" "00451594" "" "" "" "1" "" "03565" "{PMID:Chelleri 2024:39031930}" "" "F" "" "Italy" "" "" "" "" "" "PatXIII-12" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 282 "{{individualid}}" "{{diseaseid}}" "00037167" "00198" "00037168" "00198" "00037170" "00198" "00205875" "03028" "00205876" "03028" "00205877" "03028" "00205878" "03028" "00205879" "03028" "00205880" "03028" "00205881" "03028" "00205882" "05509" "00205883" "00439" "00205884" "05509" "00205885" "00198" "00205886" "05509" "00205887" "00198" "00205888" "00198" "00205889" "03028" "00205890" "00198" "00205891" "03028" "00205892" "03028" "00205893" "03028" "00205894" "00198" "00205895" "03028" "00205896" "03028" "00205897" "03028" "00205898" "03028" "00205899" "03028" "00205900" "03028" "00205901" "03028" "00205902" "03028" "00205903" "03028" "00205904" "03028" "00205906" "03028" "00205907" "03028" "00205908" "03028" "00205909" "03028" "00205910" "03028" "00205911" "03028" "00205912" "03028" "00205913" "03028" "00205914" "03028" "00205915" "03028" "00205916" "03028" "00205917" "03028" "00205918" "03028" "00205919" "03028" "00205920" "03028" "00205921" "03028" "00205922" "03028" "00205923" "03028" "00205924" "03028" "00205925" "00198" "00205926" "00198" "00205927" "03028" "00205928" "00198" "00205929" "00198" "00205930" "03028" "00205931" "03028" "00205932" "03028" "00205933" "03028" "00205934" "03028" "00205935" "03028" "00205936" "01159" "00205937" "03028" "00205938" "05509" "00205939" "03028" "00205940" "03028" "00205941" "03028" "00205942" "03028" "00205943" "03028" "00205944" "03028" "00205945" "03028" "00205946" "03028" "00205947" "03028" "00205948" "03028" "00205949" "03028" "00205950" "03028" "00205951" "03028" "00205952" "00198" "00205953" "03028" "00205954" "03028" "00205955" "03028" "00205956" "03028" "00205957" "03028" "00205958" "03028" "00205959" "03028" "00205960" "00439" "00205961" "03028" "00205963" "03028" "00205964" "03028" "00205965" "03028" "00205966" "03028" "00205967" "03028" "00205968" "03028" "00205969" "03028" "00205970" "03028" "00205971" "03028" "00205972" "03028" "00205973" "03028" "00205974" "03028" "00205975" "03028" "00205976" "03028" "00205977" "03028" "00205978" "03028" "00205979" "03028" "00205980" "03028" "00205981" "03028" "00205982" "03028" "00205983" "03028" "00205984" "03028" "00205985" "03028" "00205986" "03028" "00205987" "03028" "00205988" "03028" "00205989" "03028" "00205990" "03028" "00205991" "03028" "00205992" "03028" "00205993" "03028" "00205994" "03028" "00205995" "03028" "00205996" "03028" "00205997" "03028" "00205998" "03028" "00205999" "00198" "00206000" "05509" "00206001" "03028" "00206002" "03028" "00206003" "00198" "00206004" "03028" "00206005" "03028" "00206006" "03028" "00206007" "03028" "00206008" "03028" "00206009" "03028" "00206011" "03028" "00206012" "03028" "00206013" "00198" "00206014" "00198" "00206015" "00198" "00206016" "00198" "00206017" "00198" "00206018" "00198" "00206019" "03028" "00206020" "03028" "00206021" "03028" "00206022" "03028" "00206023" "03028" "00206024" "03028" "00206025" "00198" "00206026" "00198" "00206027" "00198" "00206028" "03028" "00206029" "03028" "00206030" "00198" "00206031" "00198" "00206032" "03028" "00206033" "00198" "00206034" "00198" "00206035" "00198" "00206036" "03028" "00206037" "00198" "00206038" "00198" "00206039" "00198" "00206040" "03028" "00206041" "03028" "00206042" "03028" "00206043" "00198" "00206044" "00198" "00206045" "03028" "00206046" "03028" "00206047" "03028" "00206048" "00198" "00206049" "00198" "00206050" "03028" "00206051" "00198" "00206052" "03028" "00206053" "03028" "00206054" "03028" "00206055" "03028" "00206056" "03028" "00206057" "03028" "00206058" "03028" "00206059" "03028" "00206060" "03028" "00206061" "03028" "00206062" "03028" "00206063" "03028" "00206064" "03028" "00206065" "03028" "00206066" "03028" "00206067" "03028" "00206068" "03028" "00206069" "00198" "00206070" "00198" "00206071" "00198" "00206072" "00198" "00206073" "00198" "00206074" "00439" "00206075" "03028" "00206076" "03028" "00206077" "05509" "00206078" "00198" "00206079" "03028" "00206080" "03028" "00206081" "03028" "00206082" "03028" "00206083" "03028" "00206084" "03028" "00206085" "03028" "00206086" "03028" "00206087" "03028" "00206088" "00198" "00206089" "00198" "00206090" "03028" "00206091" "03028" "00206092" "03028" "00206093" "03028" "00206094" "03028" "00206095" "03028" "00206096" "03028" "00206097" "03028" "00206098" "03028" "00206099" "05509" "00206100" "03028" "00206101" "03028" "00206102" "03028" "00206103" "03028" "00206104" "03028" "00206105" "03028" "00206106" "03028" "00206107" "03028" "00206108" "03028" "00206109" "03028" "00206110" "03028" "00206111" "03028" "00206112" "03028" "00206113" "03028" "00206114" "03028" "00206115" "03028" "00206116" "00198" "00206117" "00198" "00206118" "03028" "00206119" "00198" "00206120" "03028" "00206121" "03028" "00206122" "00198" "00206123" "00198" "00206124" "03028" "00206125" "03028" "00206126" "03028" "00206127" "03028" "00206128" "03028" "00206129" "00439" "00206130" "03028" "00206131" "00198" "00206132" "00198" "00206133" "03028" "00206134" "03028" "00206135" "03028" "00206136" "03028" "00206137" "03028" "00206138" "03028" "00206139" "03028" "00291186" "00198" "00324495" "03028" "00377163" "00724" "00383051" "00198" "00408072" "03028" "00451583" "00198" "00451584" "00198" "00451585" "00198" "00451586" "00198" "00451587" "00198" "00451588" "00198" "00451589" "00198" "00451590" "00198" "00451591" "00198" "00451592" "00198" "00451593" "00198" "00451594" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00439, 00724, 01159, 03028, 05509 ## Count = 280 "{{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}}" "0000060851" "00198" "00037168" "01164" "Unknown" "" "no signs of Legius syndrome, no cafe au lait spots (-HP:0000957)" "" "" "" "" "" "" "" "" "" "" "" "0000154016" "03028" "00205875" "02253" "Unknown" "" ">6 CALMs / bilateral inguinal freckling / acrocyanosis" "" "2y6m" "" "" "" "" "" "" "" "" "" "0000154017" "03028" "00205876" "02253" "Familial" "" "6 CALM / posteriorly rotated ears / ptosis left eye / no freckling / normal speech and motor development" "" "4y" "" "" "" "" "" "" "" "" "" "0000154018" "03028" "00205877" "02253" "Familial" "" "20 CALM / bilateral axillary and inguinal freckling / learning disability: dyslexia / dysgraphia / attention deficit / cephalalgia" "10y" "14y" "" "" "" "" "" "" "" "" "" "0000154019" "03028" "00205878" "02253" "Familial" "" ">6 CALM / no freckling / hyperactive" "" "6y" "" "" "" "" "" "" "" "" "" "0000154020" "03028" "00205879" "02253" "Familial" "" ">6 CALM / axillary and inguinal freckling / clinodactyly 5th finger" "" "3y6m" "" "" "" "" "" "" "" "" "" "0000154021" "03028" "00205880" "02253" "Isolated (sporadic)" "" ">6 CALMs larger than 5 mm diameter / some inguinal lentigines / normal cognitive development" "" "10y" "" "" "" "" "" "" "" "" "" "0000154022" "03028" "00205881" "02253" "Unknown" "" ">6 CALMs / faint L axillary freckling / 1R axillary freckle / family history unknown" "" "7y6m" "" "" "" "" "" "" "" "" "" "0000154023" "05509" "00205882" "02253" "Unknown" "" ">6 CALMs" "" "5y6m" "" "" "" "" "" "" "" "" "" "0000154024" "00439" "00205883" "02253" "Familial" "" ">6 CALMs / BI&A / 100-500 cNFs / hist confirmed subdermal NFs / plexiform neurofibroma R leg and R foot / asymptomatic optic glioma by MRI" "" "36y" "" "" "" "" "" "" "" "" "" "0000154025" "05509" "00205884" "02253" "Unknown" "" "8 typical CALMs / numerous smaller macules and R axillary freckling; father reportedly has freckling" "" "10y" "" "" "" "" "" "" "" "" "" "0000154026" "00198" "00205885" "02253" "Unknown" "" "no CALMs / diffuse histological confirmed gastric neurofibromas / bone cysts on wrist and scoliosis / segmental NF is possible / unknown family history. NF1 testing on blood negative" "" "37y" "" "" "" "" "" "" "" "" "" "0000154027" "05509" "00205886" "00235" "Familial" "" "> 6 CALS" "" "" "First months" "" "" "" "" "" "" "" "" "0000154028" "00198" "00205887" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154029" "00198" "00205888" "02253" "Isolated (sporadic)" "" "2 CALMs R upper quadrant / 7 cm hyperpigmented region on R neck / 4-5 freckles R neck / R axillary freckling / abnormal development. Segmental NF is possible." "" "2y" "" "" "" "" "" "" "" "" "" "0000154030" "03028" "00205889" "02253" "Familial" "" ">6 CALMs / bilateral axillary freckling / familial" "" "7y6m" "" "" "" "" "" "" "" "" "" "0000154031" "00198" "00205890" "02253" "Isolated (sporadic)" "" "6 CAL-spots predominantly on L side / ? asymptomatic paraspinal nodules by MRI / and abnormal dev. with abnormal behaviors" "" "8y" "" "" "" "" "" "" "" "" "" "0000154032" "03028" "00205891" "02253" "Familial" "" ">6 CALM / bilateral axillary and inguinal freckling / ADHD" "" "7y6m" "" "" "" "" "" "" "" "" "" "0000154033" "03028" "00205892" "02253" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154034" "03028" "00205893" "02253" "Unknown" "" "20typical CALMs / possible Noonan phenotype with coarse features and short stature" "" "12y" "" "" "" "" "" "" "" "" "" "0000154035" "00198" "00205894" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154036" "03028" "00205895" "02253" "Familial" "" "13 CALM / no freckling / monoblastic acute leukemia / learning disability" "" "4y" "" "" "" "" "" "" "" "" "" "0000154037" "03028" "00205896" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154038" "03028" "00205897" "02253" "Familial" "" "CALM present / punctate dots in right groin" "30y" "38y" "" "" "" "" "" "" "" "" "" "0000154039" "03028" "00205898" "02253" "Unknown" "" ">6 CALMs / R inguinal freckling / hypertelorism" "" "6y" "" "" "" "" "" "" "" "" "" "0000154040" "03028" "00205899" "02253" "Unknown" "" ">6 CALMs / bilateral inguinal and axillary freckling / ADD / unknown family history" "" "8y" "" "" "" "" "" "" "" "" "" "0000154041" "03028" "00205900" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154042" "03028" "00205901" "02253" "Familial" "" "multiple CALMs and macrocephaly" "" "12m" "" "" "" "" "" "" "" "" "" "0000154043" "03028" "00205902" "00697" "Familial" "" ">5 CALs" "" "" "" "" "" "" "" "" "" "" "" "0000154044" "03028" "00205903" "00697" "Isolated (sporadic)" "" ">5 CALs and Learning disabilities" "" "" "" "" "" "" "" "" "" "" "" "0000154045" "03028" "00205904" "00697" "Isolated (sporadic)" "" "> 5 CALs" "" "" "" "" "" "" "" "" "" "" "" "0000154047" "03028" "00205906" "02253" "Isolated (sporadic)" "" "22 CALM / thoracic freckling / speech delay / meatal stenosis / hypertelorism / mild hearing loss Lear / low posterior hairline / mild pterygium colli / pectus carinatum/excavatum / motor and language delay / ADHD" "" "9y6m" "" "" "" "" "" "" "" "" "" "0000154048" "03028" "00205907" "02253" "Familial" "" ">6 CALMs / 2 freckles in R axilla" "" "7y6m" "" "" "" "" "" "" "" "" "" "0000154049" "03028" "00205908" "02253" "Unknown" "" "10-20 CALM / subtle axillary and inguinal freckling / learning disabilities requiring intervention" "" "12y" "" "" "" "" "" "" "" "" "" "0000154050" "03028" "00205909" "02253" "Unknown" "" ">5 CALM / inguinal freckling / hypertelorism / dyslexia / congenital hypothyroidism" "" "12y" "" "" "" "" "" "" "" "" "" "0000154051" "03028" "00205910" "02253" "Unknown" "" ">6 CALMs / freckling R neck / learning disability" "" "12y" "" "" "" "" "" "" "" "" "" "0000154052" "03028" "00205911" "02253" "Unknown" "" ">6 CALMs / bilateral inguinal and axillary freckling" "" "7y" "" "" "" "" "" "" "" "" "" "0000154053" "03028" "00205912" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154054" "03028" "00205913" "02253" "Isolated (sporadic)" "" ">6 CALMs / freckling" "" "34y" "" "" "" "" "" "" "" "" "" "0000154055" "03028" "00205914" "02253" "Unknown" "" "14 CALM / 1 CALM in left axilla / hyperactive / mild pectus excavatum / mild retrognatia / simple ears" "" "2y" "" "" "" "" "" "" "" "" "" "0000154056" "03028" "00205915" "02253" "Familial" "" "no CALM / no freckling / multiple lipomas" "" "60y" "" "" "" "" "" "" "" "" "" "0000154057" "03028" "00205916" "02253" "Isolated (sporadic)" "" "14 CALM / no freckling / hyperactive" "" "4y" "" "" "" "" "" "" "" "" "" "0000154058" "03028" "00205917" "02253" "Familial" "" ">6 CALM / bilateral axillary freckling" "" "9y" "" "" "" "" "" "" "" "" "" "0000154059" "03028" "00205918" "02253" "Unknown" "" ">5 CALM / no freckling / generalized epilepsy since age 39-y / Parkinson disease since age 45-y" "" "51y" "" "" "" "" "" "" "" "" "" "0000154060" "03028" "00205919" "02253" "Unknown" "" ">6 CALMs / adopted" "" "7m" "" "" "" "" "" "" "" "" "" "0000154061" "03028" "00205920" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154062" "03028" "00205921" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154063" "03028" "00205922" "02253" "Unknown" "" ">6 CALMs / left inguinal freckling" "" "12m" "" "" "" "" "" "" "" "" "" "0000154064" "03028" "00205923" "00697" "Familial" "" "> 5 CALs" "" "" "" "" "" "" "" "" "" "" "" "0000154065" "03028" "00205924" "02253" "Familial" "" ">6 CALMs / familial" "" "4y" "" "" "" "" "" "" "" "" "" "0000154066" "00198" "00205925" "02253" "Unknown" "" ">6 CALMs / bilateral axillary freckling / congenital left ventricular aneurysm" "" "20y" "" "" "" "" "" "" "" "" "" "0000154067" "00198" "00205926" "02253" "Unknown" "" ">6 typical CALMs / bilateral axillary freckling / 2-6 possible neurofibromas and comprehensive NF1 testing negative; daughter reportedly also has NF1 and NF1 testing negative" "" "37y" "" "" "" "" "" "" "" "" "" "0000154068" "03028" "00205927" "02253" "Unknown" "" ">6 CALMs / bilateral axillary and inguinal freckling" "" "5y" "" "" "" "" "" "" "" "" "" "0000154069" "00198" "00205928" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154070" "00198" "00205929" "02253" "Familial" "" ">6 typical CALMs / 1L axillary freckle / spor; not found in mom who has 1 hyperpigmented macule on L hip with freckling within the margins / and lipoma on L shoulder; dad is 38y with 2 hypopigmented areas on arms and hypertension carries mutation" "" "10m" "" "" "" "" "" "" "" "" "" "0000154071" "03028" "00205930" "02253" "Unknown" "" "8 CALMs / mild thoracic scoliosis / abnormal development with heart murmur / possible Noonan phenotype with short stature and midface hypoplasia. Familial" "" "5y6m" "" "" "" "" "" "" "" "" "" "0000154072" "03028" "00205931" "02253" "Isolated (sporadic)" "" ">5 CALMs / no freckling / hypertelorism / downslanting palpebral fissues / ptosis / low implanted postriorly rotated ears" "" "15y" "" "" "" "" "" "" "" "" "" "0000154073" "03028" "00205932" "02253" "Unknown" "" "multiple CALMs" "" "13m" "" "" "" "" "" "" "" "" "" "0000154074" "03028" "00205933" "02253" "Unknown" "" ">6 CALMs / bilateral axillary and inguinal freckling / learning disability / unknown FH" "" "8y" "" "" "" "" "" "" "" "" "" "0000154075" "03028" "00205934" "02253" "Unknown" "" ">6 CALMs / bilateral axillary freckling" "" "18m" "" "" "" "" "" "" "" "" "" "0000154076" "03028" "00205935" "02253" "Unknown" "" ">6 CAL-spots" "" "6y6m" "" "" "" "" "" "" "" "" "" "0000154077" "01159" "00205936" "02253" "Unknown" "" "6-10 CAL-spots / spinal tumors and bilateral vestibular schwannomas / NF1 testing negative" "" "8y" "" "" "" "" "" "" "" "" "" "0000154078" "03028" "00205937" "02253" "Unknown" "" ">6 CALMs" "" "9m" "" "" "" "" "" "" "" "" "" "0000154079" "05509" "00205938" "02253" "Isolated (sporadic)" "" ">6 CALMs" "" "8y" "" "" "" "" "" "" "" "" "" "0000154080" "03028" "00205939" "02253" "Familial" "" "CALM present / freckling present / macrocephaly" "" "68y" "" "" "" "" "" "" "" "" "" "0000154081" "03028" "00205940" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154082" "03028" "00205941" "02253" "Isolated (sporadic)" "" ">6 typical CALMsmild bilateral inguinal freckling / minimal bil ax freckling / 1 subcutaneous lump on R torso / LD (psychiatric disease)" "" "17y" "" "" "" "" "" "" "" "" "" "0000154083" "03028" "00205942" "02253" "Familial" "" ">6 typical CALMs / BI&A / familial" "" "13y" "" "" "" "" "" "" "" "" "" "0000154084" "03028" "00205943" "02253" "Familial" "" ">6 typical CALMs. Father and paternal grandmother reported to have multiple CALMs" "" "18m" "" "" "" "" "" "" "" "" "" "0000154085" "03028" "00205944" "02253" "Unknown" "" ">6 CALM / no freckling" "" "10y" "" "" "" "" "" "" "" "" "" "0000154086" "03028" "00205945" "02253" "Familial" "" "11 CALM / bilateral axillary and inguinal freckling / cephalgia" "" "14y" "" "" "" "" "" "" "" "" "" "0000154087" "03028" "00205946" "02253" "Familial" "" ">5 CALM / no freckling / 5 spontaneous abortions / 1 still birth at 6m pregnancy / unilateral postaxial polydactyly foot" "" "36y" "" "" "" "" "" "" "" "" "" "0000154088" "03028" "00205947" "02253" "Unknown" "" ">5 CALM / axillary and inguinal freckling / hypertelorism / pectus excavatum / delayed motor milestones / non-verbal learning disorder" "" "11y" "" "" "" "" "" "" "" "" "" "0000154089" "03028" "00205948" "02253" "Unknown" "" ">6 CALMs / no freckling / normal development" "" "46y" "" "" "" "" "" "" "" "" "" "0000154090" "03028" "00205949" "02253" "Familial" "" ">6 CALMs / abnormal development / learning difficulties" "" "9y" "" "" "" "" "" "" "" "" "" "0000154091" "03028" "00205950" "02253" "Familial" "" ">6 typical CALMs / BI&A / familial" "" "8y" "" "" "" "" "" "" "" "" "" "0000154092" "03028" "00205951" "02253" "Familial" "" "multiple CALMs" "" "1y" "" "" "" "" "" "" "" "" "" "0000154093" "00198" "00205952" "02253" "Unknown" "" ">6 typical CAL-spots / history of ataxia and hypotonia causing gait abnormality. Sporadic case" "" "3y6m" "" "" "" "" "" "" "" "" "" "0000154094" "03028" "00205953" "02253" "Familial" "" "CALM present / no freckling" "" "26y" "" "" "" "" "" "" "" "" "" "0000154095" "03028" "00205954" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154096" "03028" "00205955" "02253" "Familial" "" "6 irregular CALMs and BI&A freckling / familial" "" "18y" "" "" "" "" "" "" "" "" "" "0000154097" "03028" "00205956" "02253" "Unknown" "" ">6 CALMs" "" "11y" "" "" "" "" "" "" "" "" "" "0000154098" "03028" "00205957" "02253" "Isolated (sporadic)" "" ">15 CALM / 1 in left axilla and 1 in right inguinal region / pectus excavatum" "" "4y" "" "" "" "" "" "" "" "" "" "0000154099" "03028" "00205958" "02253" "Familial" "" "numerous CALMs / axillary and inguinal freckling; mutation also present in mother with numerous CALMs" "" "7y" "" "" "" "" "" "" "" "" "" "0000154100" "03028" "00205959" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154101" "00439" "00205960" "02253" "Familial" "" "8 CALMs and 2 neurofibromas" "" "19y" "" "" "" "" "" "" "" "" "" "0000154102" "03028" "00205961" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154104" "03028" "00205963" "02253" "Familial" "" "also found in the proband\'s mother with 1 hyperpigmented region on the abdomen" "" "" "" "" "" "" "" "" "" "" "" "0000154105" "03028" "00205964" "02253" "Unknown" "" "7 CALMs family history unknwon" "" "4y6m" "" "" "" "" "" "" "" "" "" "0000154106" "03028" "00205965" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154107" "03028" "00205966" "02253" "Unknown" "" ">6 CALMs larger than 15mm diameter / axillary freckling / normal cognitive development / no scoliosis. Mother and older brother have multiple CALMs but no molecular testing available" "" "14y" "" "" "" "" "" "" "" "" "" "0000154108" "03028" "00205967" "02253" "Unknown" "" ">5 CALM / unknown status for freckling / learning difficulties / desmoid tumor abdominal wall" "" "40y" "" "" "" "" "" "" "" "" "" "0000154109" "03028" "00205968" "02253" "Isolated (sporadic)" "" ">6 CALMs / freckling on L side of neck" "" "4y" "" "" "" "" "" "" "" "" "" "0000154110" "03028" "00205969" "02253" "Isolated (sporadic)" "" ">6 CALs / L inguinal and axillary freckling. sporadic" "" "20y" "" "" "" "" "" "" "" "" "" "0000154111" "03028" "00205970" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154112" "03028" "00205971" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154113" "03028" "00205972" "02253" "Familial" "" ">6 CALM / bilateral inguinal freckling / 2-3 freckles in left axilla / large right temporal venous anomaly in brain / progressive dystonia of unexplained etiology" "" "17y" "" "" "" "" "" "" "" "" "" "0000154114" "03028" "00205973" "02253" "Unknown" "" ">6 CALMs / mother with multiple CALMs also carries this mutation" "" "1y" "" "" "" "" "" "" "" "" "" "0000154115" "03028" "00205974" "02253" "Unknown" "" ">6 CALMs / right inguinal freckling." "" "3y" "" "" "" "" "" "" "" "" "" "0000154116" "03028" "00205975" "02253" "Familial" "" ">6 CALM / bilateral axillary and inguinal freckling / freckling right neck / macrocephaly" "" "6y6m" "" "" "" "" "" "" "" "" "" "0000154117" "03028" "00205976" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154118" "03028" "00205977" "02253" "Familial" "" "no CALM / no freckling / low implanted ears / prooptosis / coarse facial features" "" "58y" "" "" "" "" "" "" "" "" "" "0000154119" "03028" "00205978" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154120" "03028" "00205979" "02253" "Unknown" "" ">6 CALMs / bilateral inguinal and axillary freckling / scoliosis" "" "39y" "" "" "" "" "" "" "" "" "" "0000154121" "03028" "00205980" "00697" "Isolated (sporadic)" "" "> 5 CALs and Lentigines" "" "" "" "" "" "" "" "" "" "" "" "0000154122" "03028" "00205981" "02253" "Unknown" "" "multiple CALMs / ADD / area of telangiectasia over right thigh and LD / FH??" "" "13y" "" "" "" "" "" "" "" "" "" "0000154123" "03028" "00205982" "02253" "Unknown" "" ">6 CALMs / fading mongolian spot; 35-yo father >6 CALMs and bilateral inguinal freckling" "" "21m" "" "" "" "" "" "" "" "" "" "0000154124" "03028" "00205983" "02253" "Familial" "" ">6 CALM, mild freckling, macrocephaly, 3 lipomas" "" "66y" "" "" "" "" "" "" "" "" "" "0000154125" "03028" "00205984" "02253" "Familial" "" "39-y, 7 CALM, 1 freckle, Noonan-like face, loose integument, 2 lipomas" "" "39y" "" "" "" "" "" "" "" "" "" "0000154126" "03028" "00205985" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154127" "03028" "00205986" "02253" "Familial" "" "39-y, >5 CALM, no freckling, mild synophris, normal development, migraine, some skintags in neck and face" "" "39y" "" "" "" "" "" "" "" "" "" "0000154128" "03028" "00205987" "02253" "Familial" "" "several small CALM / mild axillary freckling" "" "30y" "" "" "" "" "" "" "" "" "" "0000154129" "03028" "00205988" "02253" "Unknown" "" ">6 CALMs" "" "18y" "" "" "" "" "" "" "" "" "" "0000154130" "03028" "00205989" "02253" "Unknown" "" ">6 CALMs / 1 axillary freckle" "" "4y" "" "" "" "" "" "" "" "" "" "0000154131" "03028" "00205990" "02253" "Unknown" "" ">6 CALMs / bilateral inguinal and axillary freckling / mother CALMs only" "" "12y" "" "" "" "" "" "" "" "" "" "0000154132" "03028" "00205991" "02253" "Isolated (sporadic)" "" ">6 CALMs" "" "5y" "" "" "" "" "" "" "" "" "" "0000154133" "03028" "00205992" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154134" "03028" "00205993" "00697" "Familial" "" "> 5 CALs and Developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000154135" "03028" "00205994" "02253" "Isolated (sporadic)" "" ">6 typical CALMs,bilateral inguinal freckIing, heart murmur, abnormal development, speech delay. Sporadic" "" "4y" "" "" "" "" "" "" "" "" "" "0000154136" "03028" "00205995" "02253" "Isolated (sporadic)" "" "4 typical CALMs; bilateral axillary freckling / possible Lisch nodules. Sporadic" "" "29y" "" "" "" "" "" "" "" "" "" "0000154137" "03028" "00205996" "02253" "Unknown" "" ">5 CALMs, no freckling, epicanthal folds, ptosis, pectus carinatum, learning difficulties" "" "6y" "" "" "" "" "" "" "" "" "" "0000154138" "03028" "00205997" "02253" "Isolated (sporadic)" "" ">6 CAL-spots; Linguinal and bilateral axillary freckling" "" "2y6m" "" "" "" "" "" "" "" "" "" "0000154139" "03028" "00205998" "00697" "Unknown" "" "> 5 CALs" "" "" "" "" "" "" "" "" "" "" "" "0000154140" "00198" "00205999" "02253" "Isolated (sporadic)" "" "1-5 CALMs; symptomatic optic chiasm glioma / spor" "" "9y" "" "" "" "" "" "" "" "" "" "0000154141" "05509" "00206000" "02253" "Unknown" "" ">6 typical CALMs and a hyperpigmented region on L buttock dbSNP: rs376134678" "" "2y6m" "" "" "" "" "" "" "" "" "" "0000154142" "03028" "00206001" "02253" "Familial" "" "CALMs / no neurofibromas / no Lisch noduli" "" "4y" "" "" "" "" "" "" "" "" "" "0000154143" "03028" "00206002" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154144" "00198" "00206003" "02253" "Isolated (sporadic)" "" ">6 irregular CALMs" "" "33y" "" "" "" "" "" "" "" "" "" "0000154145" "03028" "00206004" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154146" "03028" "00206005" "02253" "Unknown" "" "19-yo, numerous CALMs including 8 with diameter >15mm, lentigines, primary amenorrhea. Brother, father and paternal grandfather with multiple CALMs but no molecular testing available" "" "19y" "" "" "" "" "" "" "" "" "" "0000154147" "03028" "00206006" "02253" "Familial" "" "multiple CALMs / axillary and inguinal freckling. Paternal halfbrother with multiple CALMs and axillary and inguinal freckling / carries the SPRED1 mutation." "" "10y" "" "" "" "" "" "" "" "" "" "0000154148" "03028" "00206007" "00697" "Isolated (sporadic)" "" "> 5 CALs" "" "" "" "" "" "" "" "" "" "" "" "0000154149" "03028" "00206008" "02253" "Isolated (sporadic)" "" ">6 CALMs; bilateral inguinal and axillary freckling / spor" "" "17y" "" "" "" "" "" "" "" "" "" "0000154150" "03028" "00206009" "02253" "Unknown" "" "15-20 CALMs, primary bone B lymphome (femur) at age 5-yo. No mutation found in MLH1, MSH2, MSH6 or PMS2. 20-yo brother with 5-10 CALMs and father with 2 CALMs, both not molecularly tested" "" "13y" "" "" "" "" "" "" "" "" "" "0000154152" "03028" "00206011" "02253" "Familial" "" "6-7 CALM / freckling / learning problems" "" "41y" "" "" "" "" "" "" "" "" "" "0000154153" "03028" "00206012" "02253" "Familial" "" ">6 typical CALs. Mother reportedly has >6 CALMs and axillary freckling" "" "13m" "" "" "" "" "" "" "" "" "" "0000154154" "00198" "00206013" "02253" "Isolated (sporadic)" "" ">6 typical CAL-spots; a large Mongolian spot / and low set ears" "" "3m" "" "" "" "" "" "" "" "" "" "0000154155" "00198" "00206014" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154156" "00198" "00206015" "02253" "Isolated (sporadic)" "" "3 typical CALs on L lower quadrant; Linguinal freckling and autism; Segmental NF is possible" "" "7y6m" "" "" "" "" "" "" "" "" "" "0000154157" "00198" "00206016" "02253" "Unknown" "" ">6 CALM / no freckling" "" "5y" "" "" "" "" "" "" "" "" "" "0000154158" "00198" "00206017" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154159" "00198" "00206018" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154160" "03028" "00206019" "02253" "Familial" "" "6 CALM / no freckling / macrocephaly" "" "6y" "" "" "" "" "" "" "" "" "" "0000154161" "03028" "00206020" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154162" "03028" "00206021" "02253" "Unknown" "" ">6 CALMs / learning disability (autism)" "" "4y6m" "" "" "" "" "" "" "" "" "" "0000154163" "03028" "00206022" "02253" "Isolated (sporadic)" "" "6 CALM / no freckling" "" "6y" "" "" "" "" "" "" "" "" "" "0000154164" "03028" "00206023" "02253" "Unknown" "" ">6 CALMs, left inguinal and right axillary freckling, abnormal development, ADD, learning disabillity, mutation positive Becker muscular dystrophy" "" "12y" "" "" "" "" "" "" "" "" "" "0000154165" "03028" "00206024" "02253" "Unknown" "" ">6 CALMs / bilateral axillary freckling" "" "31y" "" "" "" "" "" "" "" "" "" "0000154166" "00198" "00206025" "02253" "Unknown" "" "1-5 CALMs; 6-99 cutaneous neurofibromas and 2-6 subdermal neurofibromas / FH? NF1 testing in blood was negative / might have mosaic NF" "" "26y" "" "" "" "" "" "" "" "" "" "0000154167" "00198" "00206026" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154168" "00198" "00206027" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154169" "03028" "00206028" "02253" "Familial" "" "several CALM, no freckling, maxillary and malar hypoplasia, prognatism, downslanting palpebral fissures, required speech therapy, mild learning difficulties" "" "19y" "" "" "" "" "" "" "" "" "" "0000154170" "03028" "00206029" "02253" "Familial" "" ">10 CALM / axillary and inguinal freckling / learning disabilities requiring intervention" "" "10y" "" "" "" "" "" "" "" "" "" "0000154171" "00198" "00206030" "02253" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154172" "00198" "00206031" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154173" "03028" "00206032" "02253" "Familial" "" ">6 typical CALMs; mild scoliosis; father is reported to have multiple CALMs and a learning disability." "" "17y" "" "" "" "" "" "" "" "" "" "0000154174" "00198" "00206033" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154175" "00198" "00206034" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154176" "00198" "00206035" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154177" "03028" "00206036" "02253" "Isolated (sporadic)" "" ">6 CALM / no freckling / normal development (bright)" "" "7y6m" "" "" "" "" "" "" "" "" "" "0000154178" "00198" "00206037" "02253" "Unknown" "" "segmental phenotype / >6 CALMs all on left side" "" "3m" "" "" "" "" "" "" "" "" "" "0000154179" "00198" "00206038" "02253" "Unknown" "" "mosaic NF1" "" "" "" "" "" "" "" "" "" "" "" "0000154180" "00198" "00206039" "02253" "Unknown" "" "1 cafe-au-lait spot" "" "" "" "" "" "" "" "" "" "" "" "0000154181" "03028" "00206040" "02253" "Familial" "" "5 CALM / unilateral axillary and inguinal freckling" "55y" "59y" "" "" "" "" "" "" "" "" "" "0000154182" "03028" "00206041" "02253" "Familial" "" "3 CALM, no freckling, Wilms tumor, tubular colonadenoma, paroxysmal atrial tachycardia, 2 lipomas" "" "46y" "" "" "" "" "" "" "" "" "" "0000154183" "03028" "00206042" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154184" "00198" "00206043" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154185" "00198" "00206044" "02253" "Isolated (sporadic)" "" "5 typical CALMs, 1 irregular CAL, R inguinal, bilateral axillary, blue eyes, skeletal abnormality" "" "9m" "" "" "" "" "" "" "" "" "" "0000154186" "03028" "00206045" "02253" "Familial" "" ">6 CALMs; BI / familial" "" "9y" "" "" "" "" "" "" "" "" "" "0000154187" "03028" "00206046" "02253" "Unknown" "" ">6 CALMs / possibly familial" "" "6y" "" "" "" "" "" "" "" "" "" "0000154188" "03028" "00206047" "02253" "Isolated (sporadic)" "" "12-15 CALM mostly <5mm diameter / no freckling" "" "1y6m" "" "" "" "" "" "" "" "" "" "0000154189" "00198" "00206048" "02253" "Unknown" "" "1-5 irregular CALs; L axillary freckling / family history unknown / African American" "" "<12y" "" "" "" "" "" "" "" "" "" "0000154190" "00198" "00206049" "02253" "Isolated (sporadic)" "" ">6 typical CALMs over anterior aspect and a large hyperpigmented patch over L buttock spor." "" "2y6m" "" "" "" "" "" "" "" "" "" "0000154191" "03028" "00206050" "02253" "Unknown" "" "8 CALMs diameter >15mm / numerous lentigines / hypoacusis" "" "37y" "" "" "" "" "" "" "" "" "" "0000154192" "00198" "00206051" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154193" "03028" "00206052" "02253" "Unknown" "" "3 CALMs" "" "4y" "" "" "" "" "" "" "" "" "" "0000154194" "03028" "00206053" "02253" "Unknown" "" "13 typical CALMs; bilateral inguinal freckling" "" "3y" "" "" "" "" "" "" "" "" "" "0000154195" "03028" "00206054" "02253" "Unknown" "" ">10 CALMs, inguinal freckling, macrocephaly, learning disabilities, bilateral Unidentified bright objects" "" "8y" "" "" "" "" "" "" "" "" "" "0000154196" "03028" "00206055" "02253" "Isolated (sporadic)" "" "no signs in both parents" "" "" "" "" "" "" "" "" "" "" "" "0000154197" "03028" "00206056" "02253" "Unknown" "" "5.5-yo, >6 CALMs, right axillary freckling, right ptosis, epicanthus folds, abnormal development, language and motor delay, short stature, hypertelorism and low set ears" "" "5y6m" "" "" "" "" "" "" "" "" "" "0000154198" "03028" "00206057" "02253" "Familial" "" "CALM present / axillary freckling / congenital soft tissue swelling scalp" "" "28y" "" "" "" "" "" "" "" "" "" "0000154199" "03028" "00206058" "02253" "Familial" "" "4 CALM / no freckling" "" "4y" "" "" "" "" "" "" "" "" "" "0000154200" "03028" "00206059" "00697" "Familial" "" "> 5 CALS and Learning Disabilities" "" "" "" "" "" "" "" "" "" "" "" "0000154201" "03028" "00206060" "02253" "Isolated (sporadic)" "" ">6 CALMs and abnormal development. Sporadic" "" "18m" "" "" "" "" "" "" "" "" "" "0000154202" "03028" "00206061" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154203" "03028" "00206062" "02253" "Unknown" "" "5-6 typical CALMs; possible asymmetry of lower legs (extra crease at ankles)." "" "5m" "" "" "" "" "" "" "" "" "" "0000154204" "03028" "00206063" "02253" "Familial" "" "multiple CALMs" "" "" "" "" "" "" "" "" "" "" "" "0000154205" "03028" "00206064" "02253" "Unknown" "" "6 typicalCALs / right axillary freckling / learning difficulties" "" "33y" "" "" "" "" "" "" "" "" "" "0000154206" "03028" "00206065" "02253" "Unknown" "" ">6 CALMs; father, paternal aunt and paternal GF with CALMs only" "" "7y" "" "" "" "" "" "" "" "" "" "0000154207" "03028" "00206066" "02253" "Familial" "" "10 CALM / no freckling" "" "4y" "" "" "" "" "" "" "" "" "" "0000154208" "03028" "00206067" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154209" "03028" "00206068" "02253" "Unknown" "" ">6 CALMs at age of 5y6m" "" "10y" "" "" "" "" "" "" "" "" "" "0000154210" "00198" "00206069" "02253" "Isolated (sporadic)" "" ">6 CALMs; bilateral axillary freckling / pulmonic stenosis" "" "3y6m" "" "" "" "" "" "" "" "" "" "0000154211" "00198" "00206070" "02253" "Unknown" "" "6 CALMs / juvenile xanthogranulomas" "" "19m" "" "" "" "" "" "" "" "" "" "0000154212" "00198" "00206071" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154213" "00198" "00206072" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154214" "00198" "00206073" "02253" "Familial" "" "3 typical CALMs and ADD; familial" "" "8y6m" "" "" "" "" "" "" "" "" "" "0000154215" "00439" "00206074" "02253" "Unknown" "" "multiple CALMs/ FH?" "" "7m" "" "" "" "" "" "" "" "" "" "0000154216" "03028" "00206075" "02253" "Isolated (sporadic)" "" ">6 CALMs / bilateral axillary and inguinal freckling / scoliosis" "" "20y" "" "" "" "" "" "" "" "" "" "0000154217" "03028" "00206076" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154218" "05509" "00206077" "02253" "Familial" "" "4 typical CALMs predominantly on R arm / segmental NF is possible / spor. Same missense mutation was found in the unaffected father" "" "5y" "" "" "" "" "" "" "" "" "" "0000154219" "00198" "00206078" "02253" "Unknown" "" ">6 CALMs / bilateral axillary and inguinal freckling / mild pectus excavatum" "" "40y" "" "" "" "" "" "" "" "" "" "0000154220" "03028" "00206079" "02253" "Unknown" "" ">5 CALM" "" "39y" "" "" "" "" "" "" "" "" "" "0000154221" "03028" "00206080" "02253" "Familial" "" "9 CALM" "" "3y6m" "" "" "" "" "" "" "" "" "" "0000154222" "03028" "00206081" "02253" "Familial" "" "7 CALM" "" "40y" "" "" "" "" "" "" "" "" "" "0000154223" "03028" "00206082" "02253" "Familial" "" "10 CALM" "" "8y6m" "" "" "" "" "" "" "" "" "" "0000154224" "03028" "00206083" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154225" "03028" "00206084" "02253" "Familial" "" ">6 CALs / BI&A / histologically confirmed symptomatic unilateral spinal neurofibromas / familial." "" "47y" "" "" "" "" "" "" "" "" "" "0000154226" "03028" "00206085" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154227" "03028" "00206086" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154228" "03028" "00206087" "02253" "Familial" "" "multiple CALMs; mutation also present in 5-yo sister with numerous CALMs. Mother and maternal grandfather have multiple CALMs but not molecularly tested" "" "1y" "" "" "" "" "" "" "" "" "" "0000154229" "00198" "00206088" "02253" "Familial" "" "familial CALM and freckling / 1 CALM / MRI T2-weighted hyperintense globus pallidus left; mother carries same SPRED1 mutation and no signs" "" "5y6m" "" "" "" "" "" "" "" "" "" "0000154230" "00198" "00206089" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154231" "03028" "00206090" "02253" "Familial" "" ">5 CALM / general freckling" "" "38y" "" "" "" "" "" "" "" "" "" "0000154232" "03028" "00206091" "02253" "Familial" "" "perioral and ocular hyperpigmentation / hypertelorism / mild ptosis" "" "39y" "" "" "" "" "" "" "" "" "" "0000154233" "03028" "00206092" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154234" "03028" "00206093" "02253" "Unknown" "" "30-y, 6 CALM, extensive freckling upper trunk, bilateral axillary and inguinal freckling, excessive periorbital pigmentation" "" "30y" "" "" "" "" "" "" "" "" "" "0000154235" "03028" "00206094" "02253" "Familial" "" "19 CALM >15mm / diffuse freckling" "" "39y" "" "" "" "" "" "" "" "" "" "0000154236" "03028" "00206095" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154237" "03028" "00206096" "02253" "Familial" "" ">5 CALM, no freckling, hypertelorism, ptosis, low implanted posteriorly rotated ears, widely spaced nipples, pectus excavatum, lipomas" "" "48y" "" "" "" "" "" "" "" "" "" "0000154238" "03028" "00206097" "02253" "Familial" "" ">100 typical CALMs / bilateral inguinal and axillary freckling" "" "29y" "" "" "" "" "" "" "" "" "" "0000154239" "03028" "00206098" "02253" "Unknown" "" ">6 CALMs / familial" "" "1y" "" "" "" "" "" "" "" "" "" "0000154240" "05509" "00206099" "02253" "Familial" "" ">6 typical CALMs / father with 2 CALMs / who has NO signs at all" "" "2y" "" "" "" "" "" "" "" "" "" "0000154241" "03028" "00206100" "02253" "Familial" "" ">6 typical CALMs / faint L axillary freckling / fam" "" "15y" "" "" "" "" "" "" "" "" "" "0000154242" "03028" "00206101" "02253" "Unknown" "" ">6 CALMs / few bilateral axillary freckles / adopted" "" "15y" "" "" "" "" "" "" "" "" "" "0000154243" "03028" "00206102" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154244" "03028" "00206103" "02253" "Unknown" "" ">6 typical CALMs / bilateral axillary and inguinal freckling" "" "10y" "" "" "" "" "" "" "" "" "" "0000154245" "03028" "00206104" "02253" "Unknown" "" "CALM present / mild freckling" "" "4y" "" "" "" "" "" "" "" "" "" "0000154246" "03028" "00206105" "02253" "Unknown" "" "CALM present / no freckling" "" "59y" "" "" "" "" "" "" "" "" "" "0000154247" "03028" "00206106" "02253" "Familial" "" ">6 CALM, bilateral axillary and inguinal freckling, normal development, angiolipoma on left forearm, tenosynovial giant cell tumor localized type on left index finger" "" "35y" "" "" "" "" "" "" "" "" "" "0000154248" "03028" "00206107" "02253" "Familial" "" "16 CALM, no freckling, postaxial polydactyly hands and feet, anal stenosis" "" "11m" "" "" "" "" "" "" "" "" "" "0000154249" "03028" "00206108" "02253" "Familial" "" ">5 CALM / axillary and inguinal freckling / asymptomatic arachnoid cyst on right temporal lobe on brain MRI" "" "48y" "" "" "" "" "" "" "" "" "" "0000154250" "03028" "00206109" "02253" "Unknown" "" ">6 CALMs" "" "1y" "" "" "" "" "" "" "" "" "" "0000154251" "03028" "00206110" "02253" "Unknown" "" ">6 CALMs" "" "9m" "" "" "" "" "" "" "" "" "" "0000154252" "03028" "00206111" "02253" "Isolated (sporadic)" "" ">6 CALMs and bilateral inguinal freckling" "" "8y6m" "" "" "" "" "" "" "" "" "" "0000154253" "03028" "00206112" "00697" "Unknown" "" "> 5 CALs and Lentigines" "" "" "" "" "" "" "" "" "" "" "" "0000154254" "03028" "00206113" "02253" "Unknown" "" "1-5 CALMsfamily history unknown" "" "3y" "" "" "" "" "" "" "" "" "" "0000154255" "03028" "00206114" "02253" "Familial" "" ">6 typical CALMs / bilateral axillary freckling familial" "" "22y" "" "" "" "" "" "" "" "" "" "0000154256" "03028" "00206115" "02253" "Familial" "" ">6 CALMs / L inguinal freckling" "" "14y" "" "" "" "" "" "" "" "" "" "0000154257" "00198" "00206116" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154258" "00198" "00206117" "02253" "Unknown" "" ">6 CALMs / unknown family history" "" "1y" "" "" "" "" "" "" "" "" "" "0000154259" "03028" "00206118" "02253" "Isolated (sporadic)" "" "6 CALM / no freckling / normal development" "" "7y" "" "" "" "" "" "" "" "" "" "0000154260" "00198" "00206119" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154261" "03028" "00206120" "02253" "Familial" "" "12 CALM / 7 mm diameter CAL in axilla / language delay" "" "4y" "" "" "" "" "" "" "" "" "" "0000154262" "03028" "00206121" "02253" "Familial" "" ">6 CALM / no freckling" "" "12y" "" "" "" "" "" "" "" "" "" "0000154263" "00198" "00206122" "02253" "Unknown" "" ">6 CALMs / left inguinal freckling; mother also has CALMs and freckling" "" "5y" "" "" "" "" "" "" "" "" "" "0000154264" "00198" "00206123" "02253" "Unknown" "" ">6 CALMs / R inguinal freckling / FH?? Mother was tested and does not carry C416R although she has 1-5 typical CALs / father not yet tested" "" "17y" "" "" "" "" "" "" "" "" "" "0000154265" "03028" "00206124" "02253" "Familial" "" ">6 CALM / no freckling" "" "21m" "" "" "" "" "" "" "" "" "" "0000154266" "03028" "00206125" "02253" "Familial" "" "10 CALM, few left inguinal freckles, macrocephaly, language delay, pervasive developmental delay, hypotonia, lack of coordination, behavior and attention problems, seizures" "" "5y" "" "" "" "" "" "" "" "" "" "0000154267" "03028" "00206126" "02253" "Unknown" "" ">6 CALMs / bilateral inguinal / few axillary freckles" "" "19y" "" "" "" "" "" "" "" "" "" "0000154268" "03028" "00206127" "02253" "Familial" "" ">6 typical CALMs / right axillary freckling / abnormal development; mother and maternal grandmom also reportedly have CALMs" "" "4m" "" "" "" "" "" "" "" "" "" "0000154269" "03028" "00206128" "02253" "Unknown" "" ">6 CALMs / bilateral inguinal / atypical right axillary freckling" "" "10y" "" "" "" "" "" "" "" "" "" "0000154270" "00439" "00206129" "02253" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154271" "03028" "00206130" "02253" "Familial" "" "multiple CALM, freckling, macrocephaly, epilepsy, speech and developmental delay, autistic spectrum disorder" "" "34y" "" "" "" "" "" "" "" "" "" "0000154272" "00198" "00206131" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154273" "00198" "00206132" "02253" "Familial" "" ">6 CALMs and skin fold freckling." "" "7y" "" "" "" "" "" "" "" "" "" "0000154274" "03028" "00206133" "03012" "Unknown" "" "" "" "4y" "" "" "" "" "" "" "" "" "" "0000154275" "03028" "00206134" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154276" "03028" "00206135" "02253" "Unknown" "" ">6 CALM / left axillary freckling / normal development" "" "9y" "" "" "" "" "" "" "" "" "" "0000154277" "03028" "00206136" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154278" "03028" "00206137" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154279" "03028" "00206138" "02253" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154280" "03028" "00206139" "02253" "Isolated (sporadic)" "" "2-y, 8-10 CALM, speech delay, mild developmental delay, isolated cleft palate , short stature" "" "2y" "" "" "" "" "" "" "" "" "" "0000156823" "00198" "00037167" "01164" "Familial" "" "family history: father and his brothers and sisters are also affected; father: Lipome, no hearing problems" "" "" "" "" "" "" "" "" "" "heasring problems?" "" "0000156824" "00198" "00037170" "01164" "Unknown" "" "plexiformes Neurofibrom, suspected bone tumour; daughters: substdermal lumps" "" "" "" "" "" "" "" "" "" "neurofibromatosis" "" "0000243038" "03028" "00324495" "01164" "Familial" "25y" "6 large Cafe-au-lait spots, positive family history regarding Cafe-au-lait spots" "" "" "" "" "" "" "" "" "" "" "" "0000272321" "00724" "00377163" "01164" "Familial, autosomal dominant" "" "Cafe-au-lait spot, Hypermelanotic macule, Multiple cafe-au-lait spots; Father and Grandmother also with multiple cafe-au-lait spots" "" "" "" "" "" "" "" "" "2y" "" "" "0000300200" "03028" "00408072" "01164" "Familial, autosomal dominant" "" "Short femur, Macrocephaly, Dolichocephaly, Abnormality of calvarial morphology, Short long bone, Aplasia/hypoplasia of the femur" "" "" "" "" "" "" "" "" "" "" "" "0000340258" "00198" "00451583" "03565" "Isolated (sporadic)" "" "café-au-lait macules, no freckling, horseshoe kidneys" "" "" "" "" "" "" "" "" "LGSS" "Legius syndrome" "" "0000340259" "00198" "00451584" "03565" "Isolated (sporadic)" "" "café-au-lait macules, freckling, Arnold-Chiari type 1 malformation" "" "" "" "" "" "" "" "" "LGSS" "Legius syndrome" "" "0000340260" "00198" "00451585" "03565" "Isolated (sporadic)" "" "café-au-lait macules, freckling" "" "" "" "" "" "" "" "" "LGSS" "Legius syndrome" "" "0000340261" "00198" "00451586" "03565" "Isolated (sporadic)" "" "café-au-lait macules, freckling" "" "" "" "" "" "" "" "" "LGSS" "Legius syndrome" "" "0000340262" "00198" "00451587" "03565" "Isolated (sporadic)" "" "café-au-lait macules, freckling, scoliosis" "" "" "" "" "" "" "" "" "LGSS" "Legius syndrome" "" "0000340263" "00198" "00451588" "03565" "Isolated (sporadic)" "" "café-au-lait macules, freckling" "" "" "" "" "" "" "" "" "LGSS" "Legius syndrome" "" "0000340264" "00198" "00451589" "03565" "Isolated (sporadic)" "" "café-au-lait macules, no freckling" "" "" "" "" "" "" "" "" "LGSS" "Legius syndrome" "" "0000340265" "00198" "00451590" "03565" "Isolated (sporadic)" "" "café-au-lait macules, freckling" "" "" "" "" "" "" "" "" "LGSS" "Legius syndrome" "" "0000340266" "00198" "00451591" "03565" "Isolated (sporadic)" "" "café-au-lait macules, freckling" "" "" "" "" "" "" "" "" "LGSS" "Legius syndrome" "" "0000340267" "00198" "00451592" "03565" "Isolated (sporadic)" "" "café-au-lait macules, freckling" "" "" "" "" "" "" "" "" "LGSS" "Legius syndrome" "" "0000340268" "00198" "00451593" "03565" "Isolated (sporadic)" "" "café-au-lait macules, freckling, vitiligo" "" "" "" "" "" "" "" "" "LGSS" "Legius syndrome" "" "0000340269" "00198" "00451594" "03565" "Isolated (sporadic)" "" "café-au-lait macules, freckling, Moyamoya disease" "" "" "" "" "" "" "" "" "LGSS" "Legius syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 287 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000037236" "00037166" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037237" "00037167" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037238" "00037168" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037239" "00037169" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037240" "00037170" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037241" "00037171" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000206905" "00205875" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "MLPA" "DNA;RNA" "blood" "" "0000206906" "00205876" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "MLPA;arrayCGH" "DNA;RNA" "blood" "" "0000206907" "00205877" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206908" "00205878" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206909" "00205879" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206910" "00205880" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206911" "00205881" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206912" "00205882" "1" "02253" "02253" "2014-08-29 17:44:01" "" "2018-11-13 10:57:39" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000206913" "00205883" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206914" "00205884" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206915" "00205885" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206916" "00205886" "1" "00235" "00235" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206917" "00205887" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000206918" "00205888" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000206919" "00205889" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;MLPA" "DNA;RNA" "blood" "" "0000206920" "00205890" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000206921" "00205891" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ;MLPA" "DNA;RNA" "blood" "" "0000206922" "00205892" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;MLPA" "DNA" "blood" "" "0000206923" "00205893" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ;MLPA" "DNA;RNA" "blood" "" "0000206924" "00205894" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA" "blood" "" "0000206925" "00205895" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206926" "00205896" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206927" "00205897" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206928" "00205898" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000206929" "00205899" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000206930" "00205900" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000206931" "00205901" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206932" "00205902" "1" "00697" "00697" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206933" "00205903" "1" "00697" "00697" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206934" "00205904" "1" "00697" "00697" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206936" "00205906" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206937" "00205907" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206938" "00205908" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206939" "00205909" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206940" "00205910" "1" "02253" "02253" "2014-08-29 17:44:01" "" "2018-11-13 10:57:39" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000206941" "00205911" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000206942" "00205912" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000206943" "00205913" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000206944" "00205914" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206945" "00205915" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206946" "00205916" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206947" "00205917" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206948" "00205918" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206949" "00205919" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000206950" "00205920" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000206951" "00205921" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000206952" "00205922" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000206953" "00205923" "1" "00697" "00697" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206954" "00205924" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206955" "00205925" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000206956" "00205926" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ;MLPA" "DNA;RNA" "blood" "" "0000206957" "00205927" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000206958" "00205928" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000206959" "00205929" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206960" "00205930" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000206961" "00205931" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206962" "00205932" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206963" "00205933" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206964" "00205934" "1" "02253" "02253" "2014-08-29 17:44:00" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000206965" "00205935" "1" "02253" "02253" "2014-08-29 17:44:00" "" "" "SEQ;MLPA" "DNA" "blood" "" "0000206966" "00205936" "1" "02253" "02253" "2014-08-29 17:44:00" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000206967" "00205937" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000206968" "00205938" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206969" "00205939" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206970" "00205940" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000206971" "00205941" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206972" "00205942" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206973" "00205943" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206974" "00205944" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206975" "00205945" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206976" "00205946" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206977" "00205947" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206978" "00205948" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000206979" "00205949" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000206980" "00205950" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206981" "00205951" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000206982" "00205952" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206983" "00205953" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206984" "00205954" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206985" "00205955" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;MLPA" "DNA" "blood" "" "0000206986" "00205956" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000206987" "00205957" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206988" "00205958" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206989" "00205959" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000206990" "00205960" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206991" "00205961" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206993" "00205963" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ;MLPA" "DNA;RNA" "blood" "" "0000206994" "00205964" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206995" "00205965" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000206996" "00205966" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206997" "00205967" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000206998" "00205968" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000206999" "00205969" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207000" "00205970" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207001" "00205971" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207002" "00205972" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207003" "00205973" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207004" "00205974" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207005" "00205975" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207006" "00205976" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207007" "00205977" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207008" "00205978" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207009" "00205979" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207010" "00205980" "1" "00697" "00697" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "Blood" "" "0000207011" "00205981" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;MLPA" "DNA" "blood" "" "0000207012" "00205982" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ;MLPA" "DNA;RNA" "blood" "" "0000207013" "00205983" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207014" "00205984" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207015" "00205985" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207016" "00205986" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207017" "00205987" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207018" "00205988" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207019" "00205989" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207020" "00205990" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207021" "00205991" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207022" "00205992" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207023" "00205993" "1" "00697" "00697" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207024" "00205994" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207025" "00205995" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207026" "00205996" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207027" "00205997" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;MLPA" "DNA" "blood" "" "0000207028" "00205998" "1" "00697" "00697" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "Blood" "" "0000207029" "00205999" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;MLPA" "DNA" "blood" "" "0000207030" "00206000" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207031" "00206001" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207032" "00206002" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207033" "00206003" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207034" "00206004" "1" "02253" "02253" "2014-08-29 17:44:00" "" "" "MLPA;arrayCGH" "DNA;RNA" "blood" "" "0000207035" "00206005" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207036" "00206006" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207037" "00206007" "1" "00697" "00697" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "Blood" "" "0000207038" "00206008" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207039" "00206009" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207041" "00206011" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207042" "00206012" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207043" "00206013" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;MLPA" "DNA" "blood" "" "0000207044" "00206014" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207045" "00206015" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;MLPA" "DNA" "blood" "" "0000207046" "00206016" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207047" "00206017" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207048" "00206018" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207049" "00206019" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207050" "00206020" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207051" "00206021" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207052" "00206022" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207053" "00206023" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207054" "00206024" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207055" "00206025" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207056" "00206026" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207057" "00206027" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207058" "00206028" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207059" "00206029" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207060" "00206030" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207061" "00206031" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ;MLPA" "DNA;RNA" "blood" "" "0000207062" "00206032" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;MLPA" "DNA" "blood" "" "0000207063" "00206033" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207064" "00206034" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207065" "00206035" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207066" "00206036" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207067" "00206037" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207068" "00206038" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207069" "00206039" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207070" "00206040" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207071" "00206041" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207072" "00206042" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207073" "00206043" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207074" "00206044" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;MLPA" "DNA" "blood" "" "0000207075" "00206045" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207076" "00206046" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207077" "00206047" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207078" "00206048" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;MLPA" "DNA" "blood" "" "0000207079" "00206049" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207080" "00206050" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207081" "00206051" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207082" "00206052" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207083" "00206053" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207084" "00206054" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207085" "00206055" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207086" "00206056" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207087" "00206057" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207088" "00206058" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207089" "00206059" "1" "00697" "00697" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207090" "00206060" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207091" "00206061" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207092" "00206062" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207093" "00206063" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207094" "00206064" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207095" "00206065" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207096" "00206066" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207097" "00206067" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207098" "00206068" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207099" "00206069" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207100" "00206070" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207101" "00206071" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207102" "00206072" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207103" "00206073" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207104" "00206074" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207105" "00206075" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207106" "00206076" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;MLPA" "DNA" "blood" "" "0000207107" "00206077" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207108" "00206078" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207109" "00206079" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207110" "00206080" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207111" "00206081" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207112" "00206082" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207113" "00206083" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207114" "00206084" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;MLPA" "DNA" "blood" "" "0000207115" "00206085" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207116" "00206086" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207117" "00206087" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207118" "00206088" "1" "02253" "02253" "2014-08-29 17:44:00" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207119" "00206089" "1" "02253" "02253" "2014-08-29 17:44:00" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207120" "00206090" "1" "02253" "02253" "2014-08-29 17:44:00" "" "" "SEQ" "DNA" "blood" "" "0000207121" "00206091" "1" "02253" "02253" "2014-08-29 17:44:00" "" "" "SEQ" "DNA" "blood" "" "0000207122" "00206092" "1" "02253" "02253" "2014-08-29 17:44:00" "" "" "SEQ" "DNA" "blood" "" "0000207123" "00206093" "1" "02253" "02253" "2014-08-29 17:44:00" "" "" "SEQ" "DNA" "blood" "" "0000207124" "00206094" "1" "02253" "02253" "2014-08-29 17:44:00" "" "" "SEQ" "DNA" "blood" "" "0000207125" "00206095" "1" "02253" "02253" "2014-08-29 17:44:00" "" "" "SEQ" "DNA" "blood" "" "0000207126" "00206096" "1" "02253" "02253" "2014-08-29 17:44:00" "" "" "SEQ" "DNA" "blood" "" "0000207127" "00206097" "1" "02253" "02253" "2014-08-29 17:44:00" "" "" "SEQ" "DNA" "blood" "" "0000207128" "00206098" "1" "02253" "02253" "2014-08-29 17:44:00" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207129" "00206099" "1" "02253" "02253" "2014-08-29 17:44:00" "" "" "SEQ" "DNA" "blood" "" "0000207130" "00206100" "1" "02253" "02253" "2014-08-29 17:44:00" "" "" "SEQ" "DNA" "blood" "" "0000207131" "00206101" "1" "02253" "02253" "2014-08-29 17:44:00" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207132" "00206102" "1" "02253" "02253" "2014-08-29 17:44:00" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207133" "00206103" "1" "02253" "02253" "2014-08-29 17:44:00" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207134" "00206104" "1" "02253" "02253" "2014-08-29 17:44:00" "" "" "SEQ" "DNA" "blood" "" "0000207135" "00206105" "1" "02253" "02253" "2014-08-29 17:44:00" "" "" "SEQ" "DNA" "blood" "" "0000207136" "00206106" "1" "02253" "02253" "2014-08-29 17:44:00" "" "" "SEQ" "DNA" "blood" "" "0000207137" "00206107" "1" "02253" "02253" "2014-08-29 17:44:00" "" "" "SEQ" "DNA" "blood" "" "0000207138" "00206108" "1" "02253" "02253" "2014-08-29 17:44:00" "" "" "SEQ" "DNA" "blood" "" "0000207139" "00206109" "1" "02253" "02253" "2014-08-29 17:44:00" "" "" "SEQ" "DNA" "blood" "" "0000207140" "00206110" "1" "02253" "02253" "2014-08-29 17:44:00" "" "" "SEQ" "DNA" "blood" "" "0000207141" "00206111" "1" "02253" "02253" "2014-08-29 17:44:00" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207142" "00206112" "1" "00697" "00697" "2014-08-29 17:44:00" "" "" "SEQ" "DNA" "Blood" "" "0000207143" "00206113" "1" "02253" "02253" "2014-08-29 17:44:00" "" "" "SEQ" "DNA" "blood" "" "0000207144" "00206114" "1" "02253" "02253" "2014-08-29 17:44:00" "" "" "SEQ" "DNA" "blood" "" "0000207145" "00206115" "1" "02253" "02253" "2014-08-29 17:44:00" "" "" "SEQ" "DNA" "blood" "" "0000207146" "00206116" "1" "02253" "02253" "2014-08-29 17:44:00" "" "" "SEQ" "DNA" "blood" "" "0000207147" "00206117" "1" "02253" "02253" "2014-08-29 17:44:00" "" "" "SEQ" "DNA" "blood" "" "0000207148" "00206118" "1" "02253" "02253" "2014-08-29 17:44:00" "" "" "SEQ" "DNA" "blood" "" "0000207149" "00206119" "1" "02253" "02253" "2014-08-29 17:44:00" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207150" "00206120" "1" "02253" "02253" "2014-08-29 17:44:00" "" "" "SEQ" "DNA" "blood" "" "0000207151" "00206121" "1" "02253" "02253" "2014-08-29 17:44:00" "" "" "SEQ" "DNA" "blood" "" "0000207152" "00206122" "1" "02253" "02253" "2014-08-29 17:44:00" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207153" "00206123" "1" "02253" "02253" "2014-08-29 17:44:00" "" "" "SEQ;MLPA" "DNA" "blood" "" "0000207154" "00206124" "1" "02253" "02253" "2014-08-29 17:44:00" "" "" "SEQ" "DNA" "blood" "" "0000207155" "00206125" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207156" "00206126" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207157" "00206127" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207158" "00206128" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207159" "00206129" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;SEQ" "DNA;RNA" "blood" "" "0000207160" "00206130" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207161" "00206131" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207162" "00206132" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "blood" "" "0000207163" "00206133" "1" "03012" "03012" "2014-08-29 17:44:01" "" "" "arrayCGH" "DNA" "blood" "" "0000207164" "00206134" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ;MLPA" "DNA" "blood" "" "0000207165" "00206135" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "MLPA;arrayCGH" "DNA;RNA" "blood" "" "0000207166" "00206136" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "MLPA;arrayCGH" "DNA;RNA" "blood" "" "0000207167" "00206137" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "MLPA;arrayCGH" "DNA;RNA" "blood" "" "0000207168" "00206138" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "MLPA;arrayCGH" "DNA;RNA" "blood" "" "0000207169" "00206139" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "MLPA;arrayCGH" "DNA;RNA" "blood" "" "0000207170" "00205915" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "melanocytes, cultured from a cafe-au-lait macule" "" "0000207171" "00205923" "1" "02253" "02253" "2014-08-29 17:44:01" "" "" "SEQ" "DNA" "melanocytes, cultured from a cafe-au-lait macule" "" "0000292354" "00291186" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000325686" "00324495" "1" "01164" "01164" "2020-12-15 12:20:13" "" "" "SEQ-NG-I" "DNA" "" "" "0000378368" "00377163" "1" "01164" "01164" "2021-07-16 11:30:01" "" "" "SEQ-NG-I" "DNA" "" "" "0000384275" "00383051" "1" "04161" "04161" "2021-09-20 13:22:37" "" "" "SEQ-NG" "DNA" "" "" "0000409327" "00408072" "1" "01164" "01164" "2022-04-13 14:09:08" "" "" "SEQ-NG-I" "DNA" "Blood" "WES" "0000453184" "00451583" "1" "03565" "03565" "2024-06-11 18:56:49" "" "" "SEQ-NG" "DNA" "" "" "0000453185" "00451584" "1" "03565" "03565" "2024-06-11 19:03:39" "" "" "SEQ-NG" "DNA" "" "" "0000453186" "00451585" "1" "03565" "03565" "2024-06-11 19:05:15" "" "" "SEQ-NG" "DNA" "" "" "0000453187" "00451586" "1" "03565" "03565" "2024-06-11 19:06:48" "" "" "SEQ-NG" "DNA" "" "" "0000453188" "00451587" "1" "03565" "03565" "2024-06-11 19:08:25" "" "" "SEQ-NG" "DNA" "" "" "0000453189" "00451588" "1" "03565" "03565" "2024-06-11 19:09:50" "" "" "SEQ-NG" "DNA" "" "" "0000453190" "00451589" "1" "03565" "03565" "2024-06-11 19:11:14" "" "" "SEQ-NG" "DNA" "" "" "0000453191" "00451590" "1" "03565" "03565" "2024-06-11 19:12:54" "" "" "SEQ-NG" "DNA" "" "" "0000453192" "00451591" "1" "03565" "03565" "2024-06-11 19:15:00" "" "" "SEQ-NG" "DNA" "" "" "0000453193" "00451592" "1" "03565" "03565" "2024-06-11 19:16:25" "" "" "SEQ-NG" "DNA" "" "" "0000453194" "00451593" "1" "03565" "03565" "2024-06-11 19:18:04" "" "" "SEQ-NG" "DNA" "" "" "0000453195" "00451594" "1" "03565" "03565" "2024-06-11 19:19:31" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 273 "{{screeningid}}" "{{geneid}}" "0000037236" "SPRED1" "0000037237" "SPRED1" "0000037238" "SPRED1" "0000037239" "SPRED1" "0000037240" "SPRED1" "0000037241" "SPRED1" "0000206905" "SPRED1" "0000206906" "SPRED1" "0000206907" "SPRED1" "0000206908" "SPRED1" "0000206909" "SPRED1" "0000206910" "SPRED1" "0000206911" "SPRED1" "0000206912" "SPRED1" "0000206913" "SPRED1" "0000206914" "SPRED1" "0000206915" "SPRED1" "0000206916" "SPRED1" "0000206917" "SPRED1" "0000206918" "SPRED1" "0000206919" "SPRED1" "0000206920" 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"0000207059" "SPRED1" "0000207060" "SPRED1" "0000207061" "SPRED1" "0000207062" "SPRED1" "0000207063" "SPRED1" "0000207064" "SPRED1" "0000207065" "SPRED1" "0000207066" "SPRED1" "0000207067" "SPRED1" "0000207068" "SPRED1" "0000207069" "SPRED1" "0000207070" "SPRED1" "0000207071" "SPRED1" "0000207072" "SPRED1" "0000207073" "SPRED1" "0000207074" "SPRED1" "0000207075" "SPRED1" "0000207076" "SPRED1" "0000207077" "SPRED1" "0000207078" "SPRED1" "0000207079" "SPRED1" "0000207080" "SPRED1" "0000207081" "SPRED1" "0000207082" "SPRED1" "0000207083" "SPRED1" "0000207084" "SPRED1" "0000207085" "SPRED1" "0000207086" "SPRED1" "0000207087" "SPRED1" "0000207088" "SPRED1" "0000207089" "SPRED1" "0000207090" "SPRED1" "0000207091" "SPRED1" "0000207092" "SPRED1" "0000207093" "SPRED1" "0000207094" "SPRED1" "0000207095" "SPRED1" "0000207096" "SPRED1" "0000207097" "SPRED1" "0000207098" "SPRED1" "0000207099" "SPRED1" "0000207100" "SPRED1" "0000207101" "SPRED1" "0000207102" "SPRED1" "0000207103" "SPRED1" "0000207104" "SPRED1" "0000207105" "SPRED1" "0000207106" "SPRED1" "0000207107" "SPRED1" "0000207108" "SPRED1" "0000207109" "SPRED1" "0000207110" "SPRED1" "0000207111" "SPRED1" "0000207112" "SPRED1" "0000207113" "SPRED1" "0000207114" "SPRED1" "0000207115" "SPRED1" "0000207116" "SPRED1" "0000207117" "SPRED1" "0000207118" "SPRED1" "0000207119" "SPRED1" "0000207120" "SPRED1" "0000207121" "SPRED1" "0000207122" "SPRED1" "0000207123" "SPRED1" "0000207124" "SPRED1" "0000207125" "SPRED1" "0000207126" "SPRED1" "0000207127" "SPRED1" "0000207128" "SPRED1" "0000207129" "SPRED1" "0000207130" "SPRED1" "0000207131" "SPRED1" "0000207132" "SPRED1" "0000207133" "SPRED1" "0000207134" "SPRED1" "0000207135" "SPRED1" "0000207136" "SPRED1" "0000207137" "SPRED1" "0000207138" "SPRED1" "0000207139" "SPRED1" "0000207140" "SPRED1" "0000207141" "SPRED1" "0000207142" "SPRED1" "0000207143" "SPRED1" "0000207144" "SPRED1" "0000207145" "SPRED1" "0000207146" "SPRED1" "0000207147" "SPRED1" "0000207148" "SPRED1" "0000207149" "SPRED1" "0000207150" "SPRED1" "0000207151" "SPRED1" "0000207152" "SPRED1" "0000207153" "SPRED1" "0000207154" "SPRED1" "0000207155" "SPRED1" "0000207156" "SPRED1" "0000207157" "SPRED1" "0000207158" "SPRED1" "0000207159" "SPRED1" "0000207160" "SPRED1" "0000207161" "SPRED1" "0000207162" "SPRED1" "0000207163" "SPRED1" "0000207164" "SPRED1" "0000207165" "SPRED1" "0000207166" "SPRED1" "0000207167" "SPRED1" "0000207168" "SPRED1" "0000207169" "SPRED1" "0000207170" "SPRED1" "0000207171" "SPRED1" "0000325686" "SPRED1" "0000378368" "SPRED1" "0000409327" "SPRED1" ## 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 = 374 "{{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}}" "0000064361" "1" "10" "15" "38632148" "38632148" "subst" "0" "01164" "SPRED1_000175" "g.38632148A>G" "" "" "" "" "" "Germline" "" "rs7181472" "0" "" "" "g.38339947A>G" "" "benign" "" "0000064362" "1" "90" "15" "38591611" "38591611" "subst" "0" "01164" "SPRED1_000014" "g.38591611C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38299410C>T" "" "pathogenic" "" "0000064363" "3" "50" "15" "38641774" "38641777" "delins" "0" "01164" "SPRED1_000171" "g.38641774_38641777delinsTTAAATTAGTA" "" "" "" "" "no signs of legius syndrome, no cafe au lait spots" "Germline" "" "" "0" "" "" "g.38349573_38349576delinsTTAAATTAGTA" "" "VUS" "" "0000064364" "1" "10" "15" "38631920" "38631920" "subst" "0.223507" "01164" "SPRED1_000172" "g.38631920G>A" "" "" "" "" "" "Germline" "" "rs7179118" "0" "" "" "g.38339719G>A" "" "benign" "" "0000064365" "1" "50" "15" "38643970" "38643970" "subst" "0" "01164" "SPRED1_000173" "g.38643970A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38351769A>G" "" "VUS" "" "0000064366" "1" "10" "15" "38617062" "38617062" "subst" "0" "01164" "SPRED1_000174" "g.38617062C>A" "" "" "" "" "" "Germline" "" "rs12595839" "0" "" "" "g.38324861C>A" "" "benign" "" "0000253882" "0" "10" "15" "38591763" "38591763" "subst" "0.000130904" "01943" "SPRED1_000181" "g.38591763A>G" "" "" "" "SPRED1(NM_152594.2):c.207+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38299562A>G" "" "benign" "" "0000253883" "0" "10" "15" "38616954" "38616954" "subst" "4.40902E-5" "01943" "SPRED1_000188" "g.38616954A>G" "" "" "" "SPRED1(NM_152594.2):c.377-10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38324753A>G" "" "benign" "" "0000253885" "0" "10" "15" "38641616" "38641616" "subst" "0.00162532" "01943" "SPRED1_000192" "g.38641616A>G" "" "" "" "SPRED1(NM_152594.2):c.583-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38349415A>G" "" "benign" "" "0000308795" "0" "10" "15" "38643574" "38643574" "subst" "0.866242" "02330" "SPRED1_000201" "g.38643574T>C" "" "" "" "SPRED1(NM_152594.3):c.1044T>C (p.V348=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38351373T>C" "" "benign" "" "0000308796" "0" "10" "15" "38614525" "38614525" "subst" "0.866411" "02330" "SPRED1_000183" "g.38614525G>A" "" "" "" "SPRED1(NM_152594.3):c.291G>A (p.K97=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38322324G>A" "" "benign" "" "0000308797" "0" "10" "15" "38631920" "38631920" "subst" "0.223507" "02330" "SPRED1_000172" "g.38631920G>A" "" "" "" "SPRED1(NM_152594.2):c.424-18G>A, SPRED1(NM_152594.3):c.424-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38339719G>A" "" "benign" "" "0000308798" "0" "10" "15" "38631930" "38631930" "subst" "0.866318" "02330" "SPRED1_000191" "g.38631930C>A" "" "" "" "SPRED1(NM_152594.3):c.424-8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38339729C>A" "" "benign" "" "0000308799" "0" "10" "15" "38643469" "38643469" "subst" "0.000544848" "02330" "SPRED1_000199" "g.38643469G>A" "" "" "" "SPRED1(NM_152594.3):c.939G>A (p.T313=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38351268G>A" "" "benign" "" "0000311525" "0" "10" "15" "38643574" "38643574" "subst" "0.866242" "02325" "SPRED1_000201" "g.38643574T>C" "" "" "" "SPRED1(NM_152594.3):c.1044T>C (p.V348=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38351373T>C" "" "benign" "" "0000311526" "0" "10" "15" "38614525" "38614525" "subst" "0.866411" "02325" "SPRED1_000183" "g.38614525G>A" "" "" "" "SPRED1(NM_152594.3):c.291G>A (p.K97=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38322324G>A" "" "benign" "" "0000311527" "0" "10" "15" "38631920" "38631920" "subst" "0.223507" "02325" "SPRED1_000172" "g.38631920G>A" "" "" "" "SPRED1(NM_152594.2):c.424-18G>A, SPRED1(NM_152594.3):c.424-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38339719G>A" "" "benign" "" "0000311528" "0" "10" "15" "38631930" "38631930" "subst" "0.866318" "02325" "SPRED1_000191" "g.38631930C>A" "" "" "" "SPRED1(NM_152594.3):c.424-8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38339729C>A" "" "benign" "" "0000315614" "0" "10" "15" "38643547" "38643547" "subst" "0" "01943" "SPRED1_000200" "g.38643547G>T" "" "" "" "SPRED1(NM_152594.2):c.1017G>T (p.Q339H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38351346G>T" "" "benign" "" "0000315616" "0" "90" "15" "38643575" "38643576" "del" "0" "01943" "SPRED1_000203" "g.38643575_38643576del" "" "" "" "SPRED1(NM_152594.2):c.1045_1046delAG (p.R349Gfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38351374_38351375del" "" "pathogenic" "" "0000315617" "0" "90" "15" "38643578" "38643590" "del" "0" "01943" "SPRED1_000204" "g.38643578_38643590del" "" "" "" "SPRED1(NM_152594.2):c.1048_1060delGGAAAATGTCAGG (p.G350Mfs*52)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38351377_38351389del" "" "pathogenic" "" "0000315618" "0" "90" "15" "38591731" "38591731" "subst" "0" "01943" "SPRED1_000179" "g.38591731C>T" "" "" "" "SPRED1(NM_152594.2):c.190C>T (p.R64*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38299530C>T" "" "pathogenic" "" "0000315619" "0" "90" "15" "38591749" "38591749" "subst" "0" "01943" "SPRED1_000180" "g.38591749G>A" "" "" "" "SPRED1(NM_152594.2):c.207+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38299548G>A" "" "pathogenic" "" "0000315620" "0" "90" "15" "38614539" "38614539" "del" "0" "01943" "SPRED1_000184" "g.38614539del" "" "" "" "SPRED1(NM_152594.2):c.305delC (p.T102Sfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38322338del" "" "pathogenic" "" "0000315621" "0" "10" "15" "38545438" "38545438" "subst" "0.000274768" "01943" "SPRED1_000176" "g.38545438C>T" "" "" "" "SPRED1(NM_152594.2):c.32+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38253237C>T" "" "benign" "" "0000315622" "0" "90" "15" "38614579" "38614598" "del" "0" "01943" "SPRED1_000185" "g.38614579_38614598del" "" "" "" "SPRED1(NM_152594.2):c.345_364delTATCCGAAGAGCTATAGAGG (p.I116Yfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38322378_38322397del" "" "pathogenic" "" "0000315623" "0" "90" "15" "38614583" "38614583" "subst" "0" "01943" "SPRED1_000186" "g.38614583C>T" "" "" "" "SPRED1(NM_152594.2):c.349C>T (p.R117*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38322382C>T" "" "pathogenic" "" "0000315625" "0" "50" "15" "38616955" "38616955" "subst" "0" "01943" "SPRED1_000189" "g.38616955T>G" "" "" "" "SPRED1(NM_152594.2):c.377-9T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38324754T>G" "" "VUS" "" "0000315626" "0" "10" "15" "38631920" "38631920" "subst" "0.223507" "01943" "SPRED1_000172" "g.38631920G>A" "" "" "" "SPRED1(NM_152594.2):c.424-18G>A, SPRED1(NM_152594.3):c.424-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38339719G>A" "" "benign" "" "0000315627" "0" "90" "15" "38591593" "38591593" "subst" "0" "01943" "SPRED1_000177" "g.38591593C>T" "" "" "" "SPRED1(NM_152594.2):c.52C>T (p.R18*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38299392C>T" "" "pathogenic" "" "0000315628" "0" "30" "15" "38641627" "38641627" "subst" "0.000113982" "01943" "SPRED1_000193" "g.38641627C>T" "" "" "" "SPRED1(NM_152594.2):c.587C>T (p.T196I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38349426C>T" "" "likely benign" "" "0000315629" "0" "30" "15" "38641715" "38641715" "subst" "0.00103098" "01943" "SPRED1_000194" "g.38641715C>T" "" "" "" "SPRED1(NM_152594.2):c.675C>T (p.S225=, p.(=)), SPRED1(NM_152594.3):c.675C>T (p.S225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38349514C>T" "" "likely benign" "" "0000315630" "0" "90" "15" "38591611" "38591611" "subst" "0" "01943" "SPRED1_000014" "g.38591611C>T" "" "" "" "SPRED1(NM_152594.2):c.70C>T (p.R24*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38299410C>T" "" "pathogenic" "" "0000315631" "0" "50" "15" "38643264" "38643264" "subst" "0" "01943" "SPRED1_000195" "g.38643264T>A" "" "" "" "SPRED1(NM_152594.2):c.734T>A (p.I245N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38351063T>A" "" "VUS" "" "0000315632" "0" "90" "15" "38643311" "38643311" "subst" "0" "01943" "SPRED1_000196" "g.38643311T>G" "" "" "" "SPRED1(NM_152594.2):c.781T>G (p.Y261D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38351110T>G" "" "pathogenic" "" "0000315633" "0" "10" "15" "38643456" "38643456" "subst" "0.000471522" "01943" "SPRED1_000198" "g.38643456T>C" "" "" "" "SPRED1(NM_152594.2):c.926T>C (p.V309A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38351255T>C" "" "benign" "" "0000315634" "0" "90" "15" "38591634" "38591634" "subst" "0" "01943" "SPRED1_000178" "g.38591634G>T" "" "" "" "SPRED1(NM_152594.2):c.93G>T (p.W31C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38299433G>T" "" "pathogenic" "" "0000323977" "0" "30" "15" "38643362" "38643362" "subst" "0" "01804" "SPRED1_000197" "g.38643362T>G" "" "" "" "SPRED1(NM_152594.2):c.832T>G (p.(Ser278Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38351161T>G" "" "likely benign" "" "0000337941" "0" "10" "15" "38631920" "38631920" "subst" "0.223507" "02327" "SPRED1_000172" "g.38631920G>A" "" "" "" "SPRED1(NM_152594.2):c.424-18G>A, SPRED1(NM_152594.3):c.424-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38339719G>A" "" "benign" "" "0000337942" "0" "10" "15" "38631930" "38631930" "subst" "0.866318" "02327" "SPRED1_000191" "g.38631930C>A" "" "" "" "SPRED1(NM_152594.3):c.424-8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38339729C>A" "" "benign" "" "0000337943" "0" "30" "15" "38643207" "38643207" "subst" "0.000140916" "02327" "SPRED1_000209" "g.38643207T>C" "" "" "" "SPRED1(NM_152594.2):c.685-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38351006T>C" "" "likely benign" "" "0000339942" "0" "10" "15" "38614525" "38614525" "subst" "0.866411" "02327" "SPRED1_000183" "g.38614525G>A" "" "" "" "SPRED1(NM_152594.3):c.291G>A (p.K97=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38322324G>A" "" "benign" "" "0000339943" "0" "30" "15" "38641715" "38641715" "subst" "0.00103098" "02327" "SPRED1_000194" "g.38641715C>T" "" "" "" "SPRED1(NM_152594.2):c.675C>T (p.S225=, p.(=)), SPRED1(NM_152594.3):c.675C>T (p.S225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38349514C>T" "" "likely benign" "" "0000339944" "0" "30" "15" "38643469" "38643469" "subst" "0.000544848" "02327" "SPRED1_000199" "g.38643469G>A" "" "" "" "SPRED1(NM_152594.3):c.939G>A (p.T313=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38351268G>A" "" "likely benign" "" "0000339945" "0" "10" "15" "38643574" "38643574" "subst" "0.866242" "02327" "SPRED1_000201" "g.38643574T>C" "" "" "" "SPRED1(NM_152594.3):c.1044T>C (p.V348=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38351373T>C" "" "benign" "" "0000340958" "0" "30" "15" "38643481" "38643481" "subst" "4.06739E-6" "02327" "SPRED1_000210" "g.38643481A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38351280A>T" "" "likely benign" "" "0000342010" "0" "90" "15" "38591587" "38591587" "subst" "0" "02327" "SPRED1_000206" "g.38591587C>T" "" "" "" "SPRED1(NM_152594.2):c.46C>T (p.(Arg16*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38299386C>T" "" "pathogenic" "" "0000347934" "0" "70" "15" "38614569" "38614569" "subst" "0" "02327" "SPRED1_000207" "g.38614569T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38322368T>C" "" "likely pathogenic" "" "0000348728" "0" "30" "15" "38631960" "38631960" "subst" "0.000846988" "02327" "SPRED1_000208" "g.38631960G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38339759G>A" "" "likely benign" "" "0000436553" "0" "99" "15" "0" "0" "" "0" "02253" "SPRED1_000098" "g.?" "" "Messiaen UAB, unpublished novel mutation" "" "c.1-845-?_c.32+8517+?del" "~9.4-41.4kb deletion / Domain: EVH-1" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000436554" "0" "99" "15" "0" "0" "" "0" "02253" "SPRED1_000084" "g.?" "" "{PMID:Spencer 2011:21548021}" "" "c.1-800-?_c.32+?del" "deletion with minimum size of 111; maximum size of 203.8 kb / Domain: EVH-1" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000436555" "0" "77" "15" "38545388" "38545388" "subst" "0" "02253" "SPRED1_000002" "g.38545388T>C" "" "{PMID:Pasmant 2009:19366998}" "" "" "" "Germline" "" "" "0" "" "" "g.38253187T>C" "" "likely pathogenic" "" "0000436556" "0" "99" "15" "38545393" "38545393" "subst" "0" "02253" "SPRED1_000005" "g.38545393G>T" "" "{PMID:Messiaen 2009:19920235}" "" "" "" "Germline" "" "" "0" "" "" "g.38253192G>T" "" "pathogenic" "" "0000436557" "0" "99" "15" "38545393" "38545406" "del" "0" "02253" "SPRED1_000004" "g.38545393_38545406del" "" "{PMID:Messiaen 2009:19920235}" "" "" "Domain: EVH-1" "Germline" "" "" "0" "" "" "g.38253192_38253205del" "" "pathogenic" "" "0000436558" "0" "99" "15" "38545404" "38545404" "del" "0" "02253" "SPRED1_000102" "g.38545404del" "" "Messiaen UAB, unpublished novel mutation" "" "" "novel / Domain: EVH-1" "De novo" "" "" "0" "" "" "g.38253203del" "" "pathogenic" "" "0000436559" "0" "99" "15" "38545408" "38545408" "del" "0" "02253" "SPRED1_000139" "g.38545408del" "" "Messiaen UAB, unpublished novel mutation" "" "" "novel / Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38253207del" "" "pathogenic" "" "0000436560" "0" "55" "15" "38545412" "38545412" "subst" "0.000702581" "02253" "SPRED1_000001" "g.38545412A>T" "" "{PMID:Brems et al, 2012:22753041}" "" "" "Domain: EVH-1" "Unknown" "" "rs200157475" "0" "" "" "g.38253211A>T" "" "VUS" "" "0000436561" "0" "55" "15" "38545412" "38545412" "subst" "0.000702581" "02253" "SPRED1_000001" "g.38545412A>T" "" "{PMID:Brems et al, 2012:22753041}" "" "" "description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline mutation and studied at the DNA and RNA level / EvolCons: B_taurus:yes ; C_jacchus:yes; D_melanogaster:yes; D_rerio:no; M_musculus:yes; O_cuniculus:no; R_norvegicus:yes; X_tropicalis:yes / Domain: EVH-1" "Germline" "" "rs200157475" "0" "" "" "g.38253211A>T" "" "VUS" "" "0000436562" "0" "55" "15" "38545412" "38545412" "subst" "0.000702581" "02253" "SPRED1_000001" "g.38545412A>T" "" "{PMID:Brems et al, 2012:22753041}" "" "" "description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline mutation and studied at the DNA and RNA level / EvolCons: B_taurus:yes ; C_jacchus:yes; D_melanogaster:yes; D_rerio:no; M_musculus:yes; O_cuniculus:no; R_norvegicus:yes; X_tropicalis:yes / Domain: EVH-1" "Unknown" "" "rs200157475" "0" "" "" "g.38253211A>T" "" "VUS" "" "0000436563" "0" "55" "15" "38545412" "38545412" "subst" "0.000702581" "02253" "SPRED1_000001" "g.38545412A>T" "" "{PMID:Brems et al, 2012:22753041}" "" "" "description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline mutation and studied at the DNA and RNA level / EvolCons: B_taurus:yes ; C_jacchus:yes; D_melanogaster:yes; D_rerio:no; M_musculus:yes; O_cuniculus:no; R_norvegicus:yes; X_tropicalis:yes / Domain: EVH-1" "Unknown" "" "rs200157475" "0" "" "" "g.38253211A>T" "" "VUS" "" "0000436564" "11" "35" "15" "38545413" "38545413" "subst" "0" "00235" "SPRED1_000134" "g.38545413C>A" "" "Trevisson, University of Padova, unpublished novel mutation" "" "" "Domain: EVH-1" "Germline" "" "" "0" "" "" "g.38253212C>A" "" "likely benign" "" "0000436565" "0" "33" "15" "38545416" "38545416" "subst" "0.000635331" "02253" "SPRED1_000003" "g.38545416C>A" "" "{PMID:Brems et al, 2012:22753041}" "" "" "Domain: EVH-1" "Unknown" "" "rs201692618" "0" "" "" "g.38253215C>A" "" "likely benign" "" "0000436566" "0" "33" "15" "38545416" "38545416" "subst" "0.000635331" "02253" "SPRED1_000003" "g.38545416C>A" "" "{PMID:Brems et al, 2012:22753041}" "" "" "Domain: EVH-1" "De novo" "" "rs201692618" "0" "" "" "g.38253215C>A" "" "likely benign" "" "0000436567" "0" "77" "15" "38545420" "38545420" "subst" "0" "02253" "SPRED1_000117" "g.38545420T>C" "" "Messiaen UAB, unpublished novel mutation" "" "" "novel / Domain: EVH-1" "Germline" "" "" "0" "" "" "g.38253219T>C" "" "likely pathogenic" "" "0000436568" "0" "33" "15" "38545461" "38545461" "subst" "0.000436784" "02253" "SPRED1_000118" "g.38545461A>G" "" "" "" "" "Domain: EVH-1" "De novo" "" "rs189604029" "0" "" "" "g.38253260A>G" "" "likely benign" "" "0000436569" "0" "99" "15" "38570970" "38642125" "delins" "0" "02253" "SPRED1_000082" "g.38570970_38642125delinsGAAA" "" "{PMID:Spencer 2011:21548021}" "" "" "71 kb deletion / Domain: EVH-1" "Germline" "" "" "0" "" "" "g.38278769_38349924delinsGAAA" "" "pathogenic" "" "0000436570" "0" "99" "15" "0" "0" "delins" "0" "02253" "SPRED1_000103" "g.?" "" "Messiaen UAB, unpublished novel mutation" "" "c.33-17014_423+568delins5" "43 kb deletion / Domain: EVH-1" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000436571" "0" "99" "15" "0" "0" "" "0" "02253" "SPRED1_000094" "g.?" "" "Messiaen UAB, unpublished novel mutation" "" "c.33-5928-?_423+19+?del" "~31.4-73.7kb deletion / Domain: EVH-1" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000436572" "0" "33" "15" "38591583" "38591583" "subst" "1.62648E-5" "02253" "SPRED1_000010" "g.38591583T>C" "" "{PMID:Messiaen 2009:19920235}" "" "" "Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38299382T>C" "" "likely benign" "" "0000436573" "0" "99" "15" "38591587" "38591587" "subst" "0" "02253" "SPRED1_000011" "g.38591587C>T" "" "{PMID:Pasmant 2009:19366998}" "" "" "description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S56; UAB-S81; UAB-S89-2); no additional second somatic mutation found in the tumor cells of the proband / Domain: EVH-1" "Germline" "" "" "0" "" "" "g.38299386C>T" "" "pathogenic" "" "0000436574" "0" "99" "15" "38591587" "38591587" "subst" "0" "02253" "SPRED1_000011" "g.38591587C>T" "" "{PMID:Pasmant 2009:19366998}" "" "" "description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S56; UAB-S81; UAB-S89-2) / Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38299386C>T" "" "pathogenic" "" "0000436575" "0" "99" "15" "38591587" "38591587" "subst" "0" "02253" "SPRED1_000011" "g.38591587C>T" "" "{PMID:Pasmant 2009:19366998}" "" "" "description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S56; UAB-S81; UAB-S89-2) / Domain: EVH-1" "Germline" "" "" "0" "" "" "g.38299386C>T" "" "pathogenic" "" "0000436576" "0" "99" "15" "38591587" "38591587" "subst" "0" "02253" "SPRED1_000011" "g.38591587C>T" "" "{PMID:Pasmant 2009:19366998}" "" "" "Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38299386C>T" "" "pathogenic" "" "0000436577" "0" "99" "15" "38591587" "38591587" "subst" "0" "02253" "SPRED1_000011" "g.38591587C>T" "" "{PMID:Pasmant 2009:19366998}" "" "" "Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38299386C>T" "" "pathogenic" "" "0000436578" "0" "99" "15" "38591587" "38591587" "subst" "0" "02253" "SPRED1_000011" "g.38591587C>T" "" "{PMID:Pasmant 2009:19366998}" "" "" "Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38299386C>T" "" "pathogenic" "" "0000436579" "0" "99" "15" "38591587" "38591587" "subst" "0" "02253" "SPRED1_000011" "g.38591587C>T" "" "{PMID:Pasmant 2009:19366998}" "" "" "Domain: EVH-1" "Germline" "" "" "0" "" "" "g.38299386C>T" "" "pathogenic" "" "0000436580" "0" "59" "15" "38591587" "38591587" "subst" "0" "00697" "SPRED1_000011" "g.38591587C>T" "" "{PMID:Pasmant 2009:19366998}" "" "" "description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S56; UAB-S81; UAB-S89-2) / Domain: EVH-1" "Germline" "" "" "0" "" "" "g.38299386C>T" "" "VUS" "" "0000436581" "0" "59" "15" "38591587" "38591587" "subst" "0" "00697" "SPRED1_000011" "g.38591587C>T" "" "{PMID:Pasmant 2009:19366998}" "" "" "description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S56; UAB-S81; UAB-S89-2) / Domain: EVH-1" "Germline" "" "" "0" "" "" "g.38299386C>T" "" "VUS" "" "0000436582" "0" "59" "15" "38591587" "38591587" "subst" "0" "00697" "SPRED1_000011" "g.38591587C>T" "" "{PMID:Pasmant 2009:19366998}" "" "" "description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S56; UAB-S81; UAB-S89-2) / Domain: EVH-1" "Germline" "" "" "0" "" "" "g.38299386C>T" "" "VUS" "" "0000436584" "0" "99" "15" "38591593" "38591593" "subst" "0" "02253" "SPRED1_000012" "g.38591593C>T" "" "{PMID:Messiaen 2009:19920235}" "" "" "description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S45; UAB-S59; UAB-S86; UAB-S94) / Domain: EVH-1" "De novo" "" "" "0" "" "" "g.38299392C>T" "" "pathogenic" "" "0000436585" "0" "99" "15" "38591593" "38591593" "subst" "0" "02253" "SPRED1_000012" "g.38591593C>T" "" "{PMID:Messiaen 2009:19920235}" "" "" "description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S45; UAB-S59; UAB-S86; UAB-S94) / Domain: EVH-1" "Germline" "" "" "0" "" "" "g.38299392C>T" "" "pathogenic" "" "0000436586" "0" "99" "15" "38591593" "38591593" "subst" "0" "02253" "SPRED1_000012" "g.38591593C>T" "" "{PMID:Messiaen 2009:19920235}" "" "" "description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S45; UAB-S59; UAB-S86; UAB-S94) / Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38299392C>T" "" "pathogenic" "" "0000436587" "0" "99" "15" "38591593" "38591593" "subst" "0" "02253" "SPRED1_000012" "g.38591593C>T" "" "{PMID:Messiaen 2009:19920235}" "" "" "description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S45; UAB-S59; UAB-S86; UAB-S94) / Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38299392C>T" "" "pathogenic" "" "0000436588" "0" "99" "15" "38591593" "38591593" "subst" "0" "02253" "SPRED1_000012" "g.38591593C>T" "" "{PMID:Messiaen 2009:19920235}" "" "" "Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38299392C>T" "" "pathogenic" "" "0000436589" "0" "99" "15" "38591593" "38591593" "subst" "0" "02253" "SPRED1_000012" "g.38591593C>T" "" "{PMID:Messiaen 2009:19920235}" "" "" "Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38299392C>T" "" "pathogenic" "" "0000436590" "0" "99" "15" "38591593" "38591593" "subst" "0" "02253" "SPRED1_000012" "g.38591593C>T" "" "{PMID:Messiaen 2009:19920235}" "" "" "Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38299392C>T" "" "pathogenic" "" "0000436591" "0" "99" "15" "38591593" "38591593" "subst" "0" "02253" "SPRED1_000012" "g.38591593C>T" "" "{PMID:Messiaen 2009:19920235}" "" "" "Domain: EVH-1" "De novo" "" "" "0" "" "" "g.38299392C>T" "" "pathogenic" "" "0000436592" "0" "99" "15" "38591601" "38591602" "ins" "0" "02253" "SPRED1_000013" "g.38591601_38591602insC" "" "{PMID:Messiaen 2009:19920235}" "" "" "Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38299400_38299401insC" "" "pathogenic" "" "0000436593" "0" "99" "15" "38591611" "38591611" "subst" "0" "02253" "SPRED1_000014" "g.38591611C>T" "" "{PMID:Brems 2007:17704776}" "" "" "description of c.70C>T at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S63; UAB-S73; UAB-S90-2; UAB-S109) / Domain: EVH-1" "Germline" "" "" "0" "" "" "g.38299410C>T" "" "pathogenic" "" "0000436594" "0" "99" "15" "38591611" "38591611" "subst" "0" "02253" "SPRED1_000014" "g.38591611C>T" "" "{PMID:Brems 2007:17704776}" "" "" "description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S63; UAB-S73; UAB-S90-2; UAB-S109) / Domain: EVH-1" "De novo" "" "" "0" "" "" "g.38299410C>T" "" "pathogenic" "" "0000436595" "0" "99" "15" "38591611" "38591611" "subst" "0" "02253" "SPRED1_000014" "g.38591611C>T" "" "{PMID:Brems 2007:17704776}" "" "" "description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S63; UAB-S73; UAB-S90-2; UAB-S109) / Domain: EVH-1" "Germline" "" "" "0" "" "" "g.38299410C>T" "" "pathogenic" "" "0000436596" "0" "99" "15" "38591611" "38591611" "subst" "0" "02253" "SPRED1_000014" "g.38591611C>T" "" "{PMID:Brems 2007:17704776}" "" "" "description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S63; UAB-S73; UAB-S90-2; UAB-S109) / Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38299410C>T" "" "pathogenic" "" "0000436597" "0" "99" "15" "38591611" "38591611" "subst" "0" "02253" "SPRED1_000014" "g.38591611C>T" "" "{PMID:Brems 2007:17704776}" "" "" "Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38299410C>T" "" "pathogenic" "" "0000436598" "0" "99" "15" "38591611" "38591611" "subst" "0" "02253" "SPRED1_000014" "g.38591611C>T" "" "{PMID:Brems 2007:17704776}" "" "" "Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38299410C>T" "" "pathogenic" "" "0000436599" "0" "99" "15" "38591611" "38591611" "subst" "0" "02253" "SPRED1_000014" "g.38591611C>T" "" "{PMID:Brems 2007:17704776}" "" "" "Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38299410C>T" "" "pathogenic" "" "0000436600" "0" "99" "15" "38591611" "38591611" "subst" "0" "02253" "SPRED1_000014" "g.38591611C>T" "" "{PMID:Brems 2007:17704776}" "" "" "Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38299410C>T" "" "pathogenic" "" "0000436601" "0" "59" "15" "38591611" "38591611" "subst" "0" "00697" "SPRED1_000014" "g.38591611C>T" "" "{PMID:Brems 2007:17704776}" "" "" "description of c.70C>T at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S63; UAB-S73; UAB-S90-2; UAB-S109) / Domain: EVH-1" "Germline" "" "" "0" "" "" "g.38299410C>T" "" "VUS" "" "0000436602" "0" "99" "15" "38591611" "38591611" "subst" "0" "02253" "SPRED1_000014" "g.38591611C>T" "" "{PMID:Brems 2007:17704776}" "" "" "Domain: EVH-1" "Germline" "" "" "0" "" "" "g.38299410C>T" "" "pathogenic" "" "0000436603" "0" "55" "15" "38591612" "38591612" "subst" "0" "02253" "SPRED1_000015" "g.38591612G>A" "" "{PMID:Spencer 2011:21548021}" "" "" "Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38299411G>A" "" "VUS" "" "0000436604" "0" "55" "15" "38591612" "38591612" "subst" "0" "02253" "SPRED1_000015" "g.38591612G>A" "" "{PMID:Spencer 2011:21548021}" "" "" "Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38299411G>A" "" "VUS" "" "0000436605" "0" "99" "15" "38591628" "38591629" "dup" "0" "02253" "SPRED1_000016" "g.38591628_38591629dup" "" "{PMID:Spencer 2011 S54:21548021}" "" "" "Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38299427_38299428dup" "" "pathogenic" "" "0000436606" "0" "55" "15" "38591629" "38591629" "subst" "0" "02253" "SPRED1_000017" "g.38591629G>A" "" "{PMID:Spencer 2011 S46:21548021}" "" "" "Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38299428G>A" "" "VUS" "" "0000436607" "0" "55" "15" "38591632" "38591632" "subst" "0" "02253" "SPRED1_000140" "g.38591632T>A" "" "Messiaen UAB, unpublished novel mutation" "" "" "Domain: EVH-1" "De novo" "" "" "0" "" "" "g.38299431T>A" "" "VUS" "" "0000436608" "0" "77" "15" "38591633" "38591633" "subst" "0" "02253" "SPRED1_000119" "g.38591633G>T" "" "Messiaen UAB, unpublished novel mutation" "" "" "novel / EvolCons: B_taurus:yes ; C_jacchus:yes; D_melanogaster:yes; D_rerio:yes; M_musculus:yes; O_cuniculus:yes; R_norvegicus:yes; X_tropicalis:yes / Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38299432G>T" "" "likely pathogenic" "" "0000436609" "0" "99" "15" "38591634" "38591634" "subst" "0" "02253" "SPRED1_000018" "g.38591634G>T" "" "{PMID:Denayer 2011a:21089071}" "" "" "Domain: EVH-1" "De novo" "" "" "0" "" "" "g.38299433G>T" "" "pathogenic" "" "0000436610" "0" "99" "15" "38591634" "38591634" "subst" "0" "02253" "SPRED1_000018" "g.38591634G>T" "" "{PMID:Denayer 2011a:21089071}" "" "" "Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38299433G>T" "" "pathogenic" "" "0000436611" "0" "99" "15" "38591634" "38591634" "subst" "0" "02253" "SPRED1_000018" "g.38591634G>T" "" "{PMID:Denayer 2011a:21089071}" "" "" "Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38299433G>T" "" "pathogenic" "" "0000436612" "0" "99" "15" "38591648" "38591651" "del" "0" "02253" "SPRED1_000096" "g.38591648_38591651del" "" "Messiaen UAB, unpublished novel mutation" "" "" "novel / Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38299447_38299450del" "" "pathogenic" "" "0000436613" "0" "99" "15" "38591649" "38591649" "del" "0" "02253" "SPRED1_000120" "g.38591649del" "" "Messiaen UAB, unpublished novel mutation" "" "" "novel / Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38299448del" "" "pathogenic" "" "0000436614" "0" "55" "15" "38591665" "38591665" "subst" "0.000630297" "02253" "SPRED1_000006" "g.38591665G>A" "" "{PMID:Spencer 2011:21548021}" "" "" "Domain: EVH-1" "Unknown" "" "rs147204964" "0" "" "" "g.38299464G>A" "" "VUS" "" "0000436615" "0" "55" "15" "38591665" "38591665" "subst" "0.000630297" "02253" "SPRED1_000006" "g.38591665G>A" "" "{PMID:Spencer 2011:21548021}" "" "" "Domain: EVH-1" "Unknown" "" "rs147204964" "0" "" "" "g.38299464G>A" "" "VUS" "" "0000436616" "0" "55" "15" "38591665" "38591665" "subst" "0.000630297" "02253" "SPRED1_000006" "g.38591665G>A" "" "{PMID:Spencer 2011:21548021}" "" "" "variant also present in the mother who has no signs / EvolCons: B_taurus:yes ; C_jacchus:yes; D_melanogaster:yes; D_rerio:yes; M_musculus:yes; O_cuniculus:yes; R_norvegicus:yes; X_tropicalis:yes / Domain: EVH-1" "Germline" "" "rs147204964" "0" "" "" "g.38299464G>A" "" "VUS" "" "0000436617" "0" "55" "15" "38591672" "38591672" "subst" "0" "02253" "SPRED1_000007" "g.38591672T>A" "" "{PMID:Spurlock 2009:19443465}" "" "" "Domain: EVH-1" "Germline" "" "" "0" "" "" "g.38299471T>A" "" "VUS" "" "0000436618" "0" "99" "15" "38591689" "38591689" "subst" "0" "02253" "SPRED1_000008" "g.38591689C>T" "" "{PMID:Brems et al, 2012:22753041}" "" "" "Domain: EVH-1" "Unknown" "" "rs148646547" "0" "" "" "g.38299488C>T" "" "pathogenic" "" "0000436619" "0" "99" "15" "38591689" "38591689" "subst" "0" "02253" "SPRED1_000009" "g.38591689C>T" "" "{PMID:Brems et al, 2012:22753041}" "" "" "Domain: EVH-1" "De novo" "" "rs148646547" "0" "" "" "g.38299488C>T" "" "pathogenic" "" "0000436620" "0" "99" "15" "38591689" "38591689" "subst" "0" "02253" "SPRED1_000009" "g.38591689C>T" "" "{PMID:Brems et al, 2012:22753041}" "" "" "Domain: EVH-1" "Germline" "" "rs148646547" "0" "" "" "g.38299488C>T" "" "pathogenic" "" "0000436621" "0" "99" "15" "38591718" "38591718" "del" "0" "02253" "SPRED1_000141" "g.38591718del" "" "Messiaen UAB, unpublished novel mutation" "" "" "novel / Domain: EVH-1" "Germline" "" "" "0" "" "" "g.38299517del" "" "pathogenic" "" "0000436622" "0" "99" "15" "38591731" "38591731" "subst" "0" "02253" "SPRED1_000009" "g.38591731C>T" "" "{PMID:Brems 2007:17704776}" "" "" "description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S113) / Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38299530C>T" "" "pathogenic" "" "0000436623" "0" "99" "15" "38591731" "38591731" "subst" "0" "02253" "SPRED1_000009" "g.38591731C>T" "" "{PMID:Brems 2007:17704776}" "" "" "description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S113) / Domain: EVH-1" "Germline" "" "" "0" "" "" "g.38299530C>T" "" "pathogenic" "" "0000436624" "0" "99" "15" "38591731" "38591731" "subst" "0" "02253" "SPRED1_000009" "g.38591731C>T" "" "{PMID:Brems 2007:17704776}" "" "" "description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S113) / Domain: EVH-1" "Germline" "" "" "0" "" "" "g.38299530C>T" "" "pathogenic" "" "0000436625" "0" "99" "15" "38591731" "38591731" "subst" "0" "02253" "SPRED1_000009" "g.38591731C>T" "" "{PMID:Brems 2007:17704776}" "" "" "description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S113) / Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38299530C>T" "" "pathogenic" "" "0000436626" "0" "99" "15" "38591731" "38591731" "subst" "0" "02253" "SPRED1_000009" "g.38591731C>T" "" "{PMID:Brems 2007:17704776}" "" "" "Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38299530C>T" "" "pathogenic" "" "0000436627" "0" "99" "15" "38591731" "38591731" "subst" "0" "02253" "SPRED1_000009" "g.38591731C>T" "" "{PMID:Brems 2007:17704776}" "" "" "Domain: EVH-1" "Germline" "" "" "0" "" "" "g.38299530C>T" "" "pathogenic" "" "0000436628" "0" "99" "15" "38591731" "38591731" "subst" "0" "02253" "SPRED1_000009" "g.38591731C>T" "" "{PMID:Brems 2007:17704776}" "" "" "description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline mutation and studied at the DNA and RNA level / Domain: EVH-1" "Germline" "" "" "0" "" "" "g.38299530C>T" "" "pathogenic" "" "0000436629" "0" "99" "15" "38591749" "38591749" "subst" "0" "02253" "SPRED1_000100" "g.38591749G>T" "" "Messiaen UAB, unpublished novel mutation" "" "" "novel / Domain: EVH-1" "Germline" "" "" "0" "" "" "g.38299548G>T" "" "pathogenic" "" "0000436630" "0" "33" "15" "38591766" "38591766" "subst" "0" "02253" "SPRED1_000142" "g.38591766T>C" "" "Messiaen UAB, unpublished novel mutation" "" "" "novel / Domain: EVH-1" "De novo" "" "" "0" "" "" "g.38299565T>C" "" "likely benign" "" "0000436631" "0" "99" "15" "38614451" "38614451" "subst" "0" "02253" "SPRED1_000019" "g.38614451G>T" "" "{PMID:Spurlock 2009:19443465}" "" "" "Domain: EVH-1" "Germline" "" "" "0" "" "" "g.38322250G>T" "" "pathogenic" "" "0000436632" "0" "33" "15" "38614455" "38614455" "subst" "0" "02253" "SPRED1_000020" "g.38614455G>T" "" "{PMID:Messiaen 2009:19920235}" "" "" "Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38322254G>T" "" "likely benign" "" "0000436633" "0" "99" "15" "38614463" "38614463" "subst" "0" "02253" "SPRED1_000121" "g.38614463A>T" "" "Messiaen UAB, unpublished novel mutation" "" "" "novel / Domain: EVH-1" "Germline" "" "" "0" "" "" "g.38322262A>T" "" "pathogenic" "" "0000436634" "0" "55" "15" "38614473" "38614473" "subst" "0" "02253" "SPRED1_000021" "g.38614473T>G" "" "{PMID:Spencer 2011:21548021}" "" "" "Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38322272T>G" "" "VUS" "" "0000436635" "0" "99" "15" "38614476" "38614490" "del" "0" "02253" "SPRED1_000022" "g.38614476_38614490del" "" "{PMID:Brems 2007:17704776}" "" "" "5 amino acid deletion: Y82, K84 and V85 are evolutionary conserved / Domain: EVH-1" "De novo" "" "" "0" "" "" "g.38322275_38322289del" "" "pathogenic" "" "0000436636" "0" "55" "15" "38614497" "38614497" "subst" "0" "02253" "SPRED1_000104" "g.38614497C>A" "" "Messiaen UAB, unpublished novel mutation" "" "" "novel / EvolCons: B_taurus:yes ; C_jacchus:yes; D_melanogaster:yes; D_rerio:no; M_musculus:yes; O_cuniculus:yes; R_norvegicus:yes; X_tropicalis:yes / Domain: EVH-1" "Germline" "" "" "0" "" "" "g.38322296C>A" "" "VUS" "" "0000436637" "0" "99" "15" "38614503" "38614503" "del" "0" "02253" "SPRED1_000091" "g.38614503del" "" "{PMID:Brems et al, 2012:22753041}" "" "" "Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38322302del" "" "pathogenic" "" "0000436638" "0" "55" "15" "38614504" "38614504" "subst" "4.06567E-6" "02253" "SPRED1_000143" "g.38614504C>G" "" "Messiaen UAB, unpublished novel mutation" "" "" "Domain: EVH-1" "Germline" "" "" "0" "" "" "g.38322303C>G" "" "VUS" "" "0000436639" "0" "99" "15" "38614505" "38614505" "del" "0" "02253" "SPRED1_000092" "g.38614505del" "" "{PMID:Messiaen 2009:19920235}" "" "" "Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38322304del" "" "pathogenic" "" "0000436641" "0" "55" "15" "38614508" "38614508" "subst" "0" "02253" "SPRED1_000105" "g.38614508T>C" "" "Messiaen UAB, unpublished novel mutation" "" "" "novel / EvolCons: B_taurus:yes ; C_jacchus:yes; D_melanogaster:yes; D_rerio:yes; M_musculus:yes; O_cuniculus:yes; R_norvegicus:yes; X_tropicalis:yes / Domain: EVH-1" "Germline" "" "" "0" "" "" "g.38322307T>C" "" "VUS" "" "0000436642" "0" "99" "15" "38614517" "38614517" "del" "0" "02253" "SPRED1_000144" "g.38614517del" "" "Messiaen UAB, unpublished novel mutation" "" "" "Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38322316del" "" "pathogenic" "" "0000436643" "0" "55" "15" "38614533" "38614533" "subst" "0" "02253" "SPRED1_000093" "g.38614533G>A" "" "{PMID:Brems et al, 2012:22753041}" "" "" "Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38322332G>A" "" "VUS" "" "0000436644" "0" "99" "15" "38614537" "38614537" "dup" "0" "02253" "SPRED1_000106" "g.38614537dup" "" "Messiaen UAB, unpublished novel mutation" "" "" "novel / Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38322336dup" "" "pathogenic" "" "0000436645" "0" "99" "15" "38614538" "38614538" "dup" "0" "02253" "SPRED1_000023" "g.38614538dup" "" "{PMID:Spencer 2011:21548021}" "" "" "description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S66) / Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38322337dup" "" "pathogenic" "" "0000436646" "0" "99" "15" "38614538" "38614538" "dup" "0" "02253" "SPRED1_000023" "g.38614538dup" "" "{PMID:Spencer 2011:21548021}" "" "" "Domain: EVH-1" "De novo" "" "" "0" "" "" "g.38322337dup" "" "pathogenic" "" "0000436647" "0" "99" "15" "38614538" "38614538" "dup" "0" "02253" "SPRED1_000023" "g.38614538dup" "" "{PMID:Spencer 2011:21548021}" "" "" "description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S66) / Domain: EVH-1" "De novo" "" "" "0" "" "" "g.38322337dup" "" "pathogenic" "" "0000436648" "0" "77" "15" "38614539" "38614539" "subst" "0" "02253" "SPRED1_000024" "g.38614539C>A" "" "{PMID:Spencer 2011:21548021}" "" "" "Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38322338C>A" "" "likely pathogenic" "" "0000436649" "0" "77" "15" "38614539" "38614539" "subst" "0" "02253" "SPRED1_000024" "g.38614539C>A" "" "{PMID:Spencer 2011:21548021}" "" "" "Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38322338C>A" "" "likely pathogenic" "" "0000436650" "0" "99" "15" "38614539" "38614539" "subst" "0" "02253" "SPRED1_000025" "g.38614539C>G" "" "{PMID:Messiaen 2009:19920235}" "" "" "Domain: EVH-1" "Germline" "" "" "0" "" "" "g.38322338C>G" "" "pathogenic" "" "0000436651" "0" "77" "15" "38614539" "38614539" "subst" "4.06706E-6" "02253" "SPRED1_000026" "g.38614539C>T" "" "{PMID:Spencer 2011:21548021}" "" "" "Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38322338C>T" "" "likely pathogenic" "" "0000436652" "0" "99" "15" "38614539" "38614539" "del" "0" "02253" "SPRED1_000027" "g.38614539del" "" "{PMID:Spencer 2011:21548021}" "" "" "Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38322338del" "" "pathogenic" "" "0000436653" "0" "99" "15" "38614554" "38614567" "del" "0" "02253" "SPRED1_000028" "g.38614554_38614567del" "" "{PMID:Messiaen 2009:19920235}" "" "" "Domain: EVH-1" "Germline" "" "" "0" "" "" "g.38322353_38322366del" "" "pathogenic" "" "0000436654" "0" "99" "15" "38614560" "38614563" "dup" "0" "02253" "SPRED1_000029" "g.38614560_38614563dup" "" "{PMID:Messiaen 2009:19920235}" "" "" "description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S48) / Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38322359_38322362dup" "" "pathogenic" "" "0000436655" "0" "99" "15" "38614560" "38614563" "dup" "0" "02253" "SPRED1_000029" "g.38614560_38614563dup" "" "{PMID:Messiaen 2009:19920235}" "" "" "description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S48); / Domain: EVH-1" "Germline" "" "" "0" "" "" "g.38322359_38322362dup" "" "pathogenic" "" "0000436656" "0" "99" "15" "38614560" "38614563" "dup" "0" "02253" "SPRED1_000029" "g.38614560_38614563dup" "" "{PMID:Messiaen 2009:19920235}" "" "" "description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S48) / Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38322359_38322362dup" "" "pathogenic" "" "0000436657" "0" "99" "15" "38614560" "38614563" "dup" "0" "02253" "SPRED1_000029" "g.38614560_38614563dup" "" "{PMID:Messiaen 2009:19920235}" "" "" "Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38322359_38322362dup" "" "pathogenic" "" "0000436658" "0" "59" "15" "38614565" "38614565" "dup" "0" "00697" "SPRED1_000135" "g.38614565dup" "" "{PMID:Pasmant 2014:25074460}" "" "" "Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38322364dup" "" "VUS" "" "0000436659" "0" "99" "15" "38614574" "38614574" "dup" "0" "02253" "SPRED1_000122" "g.38614574dup" "" "Messiaen UAB, unpublished novel mutation" "" "" "novel / Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38322373dup" "" "pathogenic" "" "0000436660" "0" "55" "15" "38614581" "38614581" "subst" "0" "02253" "SPRED1_000095" "g.38614581T>A" "" "Messiaen UAB, unpublished novel mutation" "" "" "novel / EvolCons: B_taurus:yes ; C_jacchus:yes; D_melanogaster:no; D_rerio:yes; M_musculus:yes; O_cuniculus:yes; R_norvegicus:yes; X_tropicalis:yes / Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38322380T>A" "" "VUS" "" "0000436661" "0" "99" "15" "38614583" "38614583" "subst" "0" "02253" "SPRED1_000030" "g.38614583C>T" "" "{PMID:Brems 2007:17704776}" "" "" "description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S47; UAB-S60; UAB-S116) / Domain: EVH-1" "Germline" "" "" "0" "" "" "g.38322382C>T" "" "pathogenic" "" "0000436662" "0" "99" "15" "38614583" "38614583" "subst" "0" "02253" "SPRED1_000030" "g.38614583C>T" "" "{PMID:Brems 2007:17704776}" "" "" "description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S47; UAB-S60; UAB-S116) / Domain: EVH-1" "Germline" "" "" "0" "" "" "g.38322382C>T" "" "pathogenic" "" "0000436663" "0" "99" "15" "38614583" "38614583" "subst" "0" "02253" "SPRED1_000030" "g.38614583C>T" "" "{PMID:Brems 2007:17704776}" "" "" "description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S47; UAB-S60; UAB-S116) / Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38322382C>T" "" "pathogenic" "" "0000436664" "0" "99" "15" "38614583" "38614583" "subst" "0" "02253" "SPRED1_000030" "g.38614583C>T" "" "{PMID:Brems 2007:17704776}" "" "" "description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S47; UAB-S60; UAB-S116) / Domain: EVH-1" "Germline" "" "" "0" "" "" "g.38322382C>T" "" "pathogenic" "" "0000436665" "0" "99" "15" "38614583" "38614583" "subst" "0" "02253" "SPRED1_000030" "g.38614583C>T" "" "{PMID:Brems 2007:17704776}" "" "" "description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S47; UAB-S60; UAB-S116) / Domain: EVH-1" "Germline" "" "" "0" "" "" "g.38322382C>T" "" "pathogenic" "" "0000436666" "0" "99" "15" "38614583" "38614583" "subst" "0" "02253" "SPRED1_000030" "g.38614583C>T" "" "{PMID:Brems 2007:17704776}" "" "" "description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S47; UAB-S60; UAB-S116) / Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38322382C>T" "" "pathogenic" "" "0000436667" "0" "99" "15" "38614583" "38614583" "subst" "0" "02253" "SPRED1_000030" "g.38614583C>T" "" "{PMID:Brems 2007:17704776}" "" "" "Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38322382C>T" "" "pathogenic" "" "0000436668" "0" "99" "15" "38614583" "38614583" "subst" "0" "02253" "SPRED1_000030" "g.38614583C>T" "" "{PMID:Brems 2007:17704776}" "" "" "Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38322382C>T" "" "pathogenic" "" "0000436669" "0" "99" "15" "38614583" "38614583" "subst" "0" "02253" "SPRED1_000030" "g.38614583C>T" "" "{PMID:Brems 2007:17704776}" "" "" "Domain: EVH-1" "De novo" "" "" "0" "" "" "g.38322382C>T" "" "pathogenic" "" "0000436670" "0" "99" "15" "38614583" "38614583" "subst" "0" "02253" "SPRED1_000030" "g.38614583C>T" "" "{PMID:Brems 2007:17704776}" "" "" "description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S47; UAB-S60; UAB-S116) / Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38322382C>T" "" "pathogenic" "" "0000436671" "0" "59" "15" "38614583" "38614583" "subst" "0" "00697" "SPRED1_000030" "g.38614583C>T" "" "{PMID:Brems 2007:17704776}" "" "" "description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S47; UAB-S60; UAB-S116) / Domain: EVH-1" "Germline" "" "" "0" "" "" "g.38322382C>T" "" "VUS" "" "0000436672" "0" "99" "15" "38614583" "38614583" "subst" "0" "02253" "SPRED1_000030" "g.38614583C>T" "" "{PMID:Brems 2007:17704776}" "" "" "description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S47; UAB-S60; UAB-S116) / Domain: EVH-1" "De novo" "" "" "0" "" "" "g.38322382C>T" "" "pathogenic" "" "0000436673" "0" "99" "15" "38614583" "38614583" "subst" "0" "02253" "SPRED1_000030" "g.38614583C>T" "" "{PMID:Brems 2007:17704776}" "" "" "description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S47; UAB-S60; UAB-S116) / Domain: EVH-1" "De novo" "" "" "0" "" "" "g.38322382C>T" "" "pathogenic" "" "0000436674" "0" "99" "15" "38614594" "38614594" "dup" "0" "02253" "SPRED1_000031" "g.38614594dup" "" "{PMID:Denayer 2011a, family 9:21089071}" "" "" "Domain: EVH-1" "Unknown" "" "" "0" "" "" "g.38322393dup" "" "pathogenic" "" "0000436675" "0" "99" "15" "38614595" "38614595" "del" "0" "02253" "SPRED1_000123" "g.38614595del" "" "Messiaen UAB, unpublished novel mutation" "" "" "novel / Domain: EVH-1" "De novo" "" "" "0" "" "" "g.38322394del" "" "pathogenic" "" "0000436676" "0" "59" "15" "38614609" "38614609" "del" "0" "00697" "SPRED1_000136" "g.38614609del" "" "{PMID:Pasmant 2014:25074460}" "" "" "" "Unknown" "" "" "0" "" "" "g.38322408del" "" "VUS" "" "0000436677" "0" "33" "15" "38616933" "38616933" "subst" "0" "02253" "SPRED1_000124" "g.38616933A>G" "" "Messiaen UAB, unpublished novel mutation" "" "" "novel" "De novo" "" "" "0" "" "" "g.38324732A>G" "" "likely benign" "" "0000436678" "0" "33" "15" "38616954" "38616954" "subst" "4.40902E-5" "02253" "SPRED1_000145" "g.38616954A>G" "" "Messiaen UAB, unpublished novel mutation" "" "" "" "Unknown" "" "" "0" "" "" "g.38324753A>G" "" "likely benign" "" "0000436679" "0" "77" "15" "38616955" "38616955" "subst" "0" "02253" "SPRED1_000107" "g.38616955T>G" "" "Messiaen UAB, unpublished novel mutation" "" "" "novel" "Germline" "" "" "0" "" "" "g.38324754T>G" "" "likely pathogenic" "" "0000436680" "0" "99" "15" "38616962" "38616962" "subst" "0" "02253" "SPRED1_000080" "g.38616962G>A" "" "{PMID:Brems et al, 2012:22753041}" "" "c.377-2G>A" "Variant Error [EREF/ESYNTAX]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000436681" "0" "55" "15" "38643948" "38643948" "subst" "0" "02253" "SPRED1_000138" "g.38643948A>G" "" "Messiaen UAB, unpublished novel mutation" "" "" "" "Unknown" "" "" "0" "" "" "g.38351747A>G" "" "VUS" "" "0000436682" "0" "99" "15" "0" "0" "" "0" "02253" "SPRED1_000083" "g.?" "" "{PMID:Brems et al, 2012:22753041}" "" "c.1-1175-?_423+19+?del" "Domain: EVH-1" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000436683" "0" "99" "15" "38616968" "38616968" "subst" "0" "02253" "SPRED1_000108" "g.38616968C>A" "" "Messiaen UAB, unpublished novel mutation" "" "" "novel" "Unknown" "" "" "0" "" "" "g.38324767C>A" "" "pathogenic" "" "0000436684" "0" "99" "15" "38616976" "38616976" "subst" "0" "02253" "SPRED1_000109" "g.38616976C>A" "" "Messiaen UAB, unpublished novel mutation" "" "" "novel" "Germline" "" "" "0" "" "" "g.38324775C>A" "" "pathogenic" "" "0000436685" "0" "99" "15" "38616976" "38616976" "subst" "0" "00697" "SPRED1_000137" "g.38616976C>G" "" "{PMID:Pasmant 2014:25074460}" "" "" "" "Unknown" "" "" "0" "" "" "g.38324775C>G" "" "pathogenic" "" "0000436686" "0" "99" "15" "38616976" "38616976" "subst" "0" "02253" "SPRED1_000137" "g.38616976C>G" "" "Messiaen UAB, unpublished novel mutation" "" "" "" "De novo" "" "" "0" "" "" "g.38324775C>G" "" "pathogenic" "" "0000436687" "0" "99" "15" "38616982" "38616982" "dup" "0" "02253" "SPRED1_000110" "g.38616982dup" "" "Messiaen UAB, unpublished novel mutation" "" "" "novel" "Unknown" "" "" "0" "" "" "g.38324781dup" "" "pathogenic" "" "0000436689" "0" "99" "15" "38617011" "38617011" "subst" "0" "02253" "SPRED1_000081" "g.38617011G>A" "" "{PMID:Brems 2007:17704776}" "" "" "" "Germline" "" "" "0" "" "" "g.38324810G>A" "" "pathogenic" "" "0000436690" "0" "99" "15" "38617015" "38617015" "subst" "0" "02253" "SPRED1_000125" "g.38617015G>A" "" "Messiaen UAB, unpublished novel mutation" "" "" "novel" "Germline" "" "" "0" "" "" "g.38324814G>A" "" "pathogenic" "" "0000436691" "0" "33" "15" "38631924" "38631924" "subst" "0" "02253" "SPRED1_000126" "g.38631924G>A" "" "Messiaen UAB, unpublished novel mutation" "" "" "novel" "De novo" "" "" "0" "" "" "g.38339723G>A" "" "likely benign" "" "0000436692" "0" "55" "15" "38545363" "38545363" "subst" "0.000168411" "02253" "SPRED1_000158" "g.38545363A>G" "" "Messiaen UAB, unpublished novel mutation" "" "" "" "Unknown" "" "" "0" "" "" "g.38253162A>G" "" "VUS" "" "0000436693" "0" "33" "15" "38631940" "38631940" "subst" "2.44051E-5" "02253" "SPRED1_000127" "g.38631940A>G" "" "Messiaen UAB, unpublished novel mutation" "" "" "novel" "De novo" "" "" "0" "" "" "g.38339739A>G" "" "likely benign" "" "0000436694" "0" "11" "15" "38631960" "38631960" "subst" "0.000846988" "02253" "SPRED1_000032" "g.38631960G>A" "" "{PMID:Brems 2007:17704776}" "" "" "description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline alteration and studied at the DNA and RNA level (pt-ID UAB-S65/UAB-SB1) / EvolCons: B_taurus:yes ; C_jacchus:yes; D_melanogaster:no; D_rerio:no; M_musculus:no; O_cuniculus:no; R_norvegicus:no; X_tropicalis:yes" "Unknown" "" "" "0" "" "" "g.38339759G>A" "" "benign" "" "0000436695" "0" "11" "15" "38631960" "38631960" "subst" "0.000846988" "02253" "SPRED1_000032" "g.38631960G>A" "" "{PMID:Brems 2007:17704776}" "" "" "description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline alteration and studied at the DNA and RNA level (pt-ID UAB-S65/UAB-SB1) / EvolCons: B_taurus:yes ; C_jacchus:yes; D_melanogaster:no; D_rerio:no; M_musculus:no; O_cuniculus:no; R_norvegicus:no; X_tropicalis:yes" "Unknown" "" "" "0" "" "" "g.38339759G>A" "" "benign" "" "0000436696" "0" "11" "15" "38631960" "38631960" "subst" "0.000846988" "02253" "SPRED1_000032" "g.38631960G>A" "" "{PMID:Brems 2007:17704776}" "" "" "" "Unknown" "" "" "0" "" "" "g.38339759G>A" "" "benign" "" "0000436697" "0" "99" "15" "38631974" "38631977" "dup" "0" "02253" "SPRED1_000033" "g.38631974_38631977dup" "" "{PMID:Laycock-van Spyk 2011:21649642}" "" "" "" "Germline" "" "" "0" "" "" "g.38339773_38339776dup" "" "pathogenic" "" "0000436698" "0" "99" "15" "38631982" "38631983" "ins" "0" "02253" "SPRED1_000034" "g.38631982_38631983insGA" "" "{PMID:Messiaen 2009:19920235}" "" "" "description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline alteration and studied at the DNA and RNA level (pt-ID UAB-S51))" "Unknown" "" "" "0" "" "" "g.38339781_38339782insGA" "" "pathogenic" "" "0000436699" "0" "99" "15" "38631982" "38631983" "ins" "0" "02253" "SPRED1_000034" "g.38631982_38631983insGA" "" "{PMID:Messiaen 2009:19920235}" "" "" "" "Unknown" "" "" "0" "" "" "g.38339781_38339782insGA" "" "pathogenic" "" "0000436700" "0" "99" "15" "38631989" "38631989" "subst" "0" "02253" "SPRED1_000035" "g.38631989C>T" "" "{PMID:Laycock-van Spyk 2011:21649642}" "" "" "description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline alteration and studied at the DNA and RNA level (pt-ID UAB-S126)" "De novo" "" "" "0" "" "" "g.38339788C>T" "" "pathogenic" "" "0000436701" "0" "99" "15" "38631989" "38631989" "subst" "0" "02253" "SPRED1_000035" "g.38631989C>T" "" "{PMID:Laycock-van Spyk 2011:21649642}" "" "" "" "Unknown" "" "" "0" "" "" "g.38339788C>T" "" "pathogenic" "" "0000436702" "0" "99" "15" "38632007" "38632007" "del" "0" "02253" "SPRED1_000036" "g.38632007del" "" "{PMID:Spencer 2011:21548021}" "" "" "" "Unknown" "" "" "0" "" "" "g.38339806del" "" "pathogenic" "" "0000436703" "0" "55" "15" "38632025" "38632025" "subst" "2.03477E-5" "02253" "SPRED1_000147" "g.38632025T>C" "" "Messiaen UAB, unpublished novel mutation" "" "" "" "Unknown" "" "" "0" "" "" "g.38339824T>C" "" "VUS" "" "0000436704" "0" "33" "15" "38632078" "38632078" "subst" "3.66694E-5" "02253" "SPRED1_000037" "g.38632078G>A" "" "{PMID:Messiaen 2009:19920235}" "" "" "" "Unknown" "" "rs202092705" "0" "" "" "g.38339877G>A" "" "likely benign" "" "0000436705" "0" "33" "15" "38632078" "38632078" "subst" "3.66694E-5" "02253" "SPRED1_000037" "g.38632078G>A" "" "{PMID:Messiaen 2009:19920235}" "" "" "" "Unknown" "" "rs202092705" "0" "" "" "g.38339877G>A" "" "likely benign" "" "0000436706" "0" "99" "15" "38632090" "38632094" "dup" "0" "02253" "SPRED1_000038" "g.38632090_38632094dup" "" "{PMID:Denayer 2011a:21089071}" "" "" "" "Germline" "" "" "0" "" "" "g.38339889_38339893dup" "" "pathogenic" "" "0000436707" "0" "99" "15" "38632094" "38632094" "subst" "0" "02253" "SPRED1_000039" "g.38632094C>T" "" "{PMID:Muram-Zborovski 2010:20179001}" "" "" "" "Germline" "" "" "0" "" "" "g.38339893C>T" "" "pathogenic" "" "0000436708" "0" "33" "15" "38641616" "38641616" "subst" "0.00162532" "02253" "SPRED1_000111" "g.38641616A>G" "" "" "" "" "description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline alteration and studied at the DNA and RNA level (pt-ID UAB-SB)" "Germline" "" "rs115970207" "0" "" "" "g.38349415A>G" "" "likely benign" "" "0000436709" "0" "33" "15" "38641616" "38641616" "subst" "0.00162532" "02253" "SPRED1_000111" "g.38641616A>G" "" "" "" "" "" "Unknown" "" "rs115970207" "0" "" "" "g.38349415A>G" "" "likely benign" "" "0000436710" "0" "99" "15" "0" "0" "" "0" "02253" "SPRED1_000128" "g.?" "" "Messiaen UAB, unpublished novel mutation" "" "c.583-2851-?_*80+?del" "novel / 5.2kb->11.9kb deletion" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000436711" "0" "11" "15" "38641627" "38641627" "subst" "0.000113982" "02253" "SPRED1_000040" "g.38641627C>T" "" "{PMID:Messiaen 2009:19920235}" "" "" "description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline alteration and studied at the DNA and RNA level (pt-ID UAB-S92-2) / EvolCons: B_taurus:no ; C_jacchus:no; D_melanogaster:no; D_rerio:no; M_musculus:no; O_cuniculus:yes; R_norvegicus:no; X_tropicalis:no; FunctAssayELK1: behaves as wild-type; FunctAssayPC12: behaves as wild-type" "Unknown" "" "rs147474792" "0" "" "" "g.38349426C>T" "" "benign" "" "0000436712" "0" "11" "15" "38641627" "38641627" "subst" "0.000113982" "02253" "SPRED1_000040" "g.38641627C>T" "" "{PMID:Messiaen 2009:19920235}" "" "" "description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline alteration and studied at the DNA and RNA level (pt-ID UAB-S92-2) / EvolCons: B_taurus:no ; C_jacchus:no; D_melanogaster:no; D_rerio:no; M_musculus:no; O_cuniculus:yes; R_norvegicus:no; X_tropicalis:no; FunctAssayELK1: behaves as wild-type; FunctAssayPC12: behaves as wild-type" "Unknown" "" "rs147474792" "0" "" "" "g.38349426C>T" "" "benign" "" "0000436713" "0" "11" "15" "38641627" "38641627" "subst" "0.000113982" "02253" "SPRED1_000040" "g.38641627C>T" "" "{PMID:Messiaen 2009:19920235}" "" "" "" "Unknown" "" "rs147474792" "0" "" "" "g.38349426C>T" "" "benign" "" "0000436714" "0" "99" "15" "38641645" "38641645" "subst" "0" "02253" "SPRED1_000041" "g.38641645T>A" "" "{PMID:Messiaen 2009:19920235}" "" "" "" "De novo" "" "" "0" "" "" "g.38349444T>A" "" "pathogenic" "" "0000436715" "0" "33" "15" "38641674" "38641674" "subst" "0.000130169" "02253" "SPRED1_000042" "g.38641674G>A" "" "{PMID:Spencer 2011:21548021}" "" "" "" "Unknown" "" "" "0" "" "" "g.38349473G>A" "" "likely benign" "" "0000436716" "0" "33" "15" "38641674" "38641674" "subst" "0.000130169" "02253" "SPRED1_000042" "g.38641674G>A" "" "{PMID:Spencer 2011:21548021}" "" "" "" "Unknown" "" "" "0" "" "" "g.38349473G>A" "" "likely benign" "" "0000436717" "0" "33" "15" "38641674" "38641674" "subst" "0.000130169" "02253" "SPRED1_000042" "g.38641674G>A" "" "{PMID:Spencer 2011:21548021}" "" "" "" "Unknown" "" "" "0" "" "" "g.38349473G>A" "" "likely benign" "" "0000436718" "0" "99" "15" "38641677" "38641677" "subst" "0" "02253" "SPRED1_000043" "g.38641677C>T" "" "{PMID:Pasmant 2009:19366998}" "" "" "" "Germline" "" "" "0" "" "" "g.38349476C>T" "" "pathogenic" "" "0000436719" "0" "99" "15" "38641683" "38641683" "subst" "0" "02253" "SPRED1_000044" "g.38641683C>T" "" "{PMID:Brems 2007:17704776}" "" "" "" "Germline" "" "" "0" "" "" "g.38349482C>T" "" "pathogenic" "" "0000436720" "0" "99" "15" "38641707" "38641707" "del" "0" "02253" "SPRED1_000045" "g.38641707del" "" "{PMID:Spencer 2011:21548021}" "" "" "" "Unknown" "" "" "0" "" "" "g.38349506del" "" "pathogenic" "" "0000436721" "0" "99" "15" "38641713" "38641713" "del" "0" "02253" "SPRED1_000148" "g.38641713del" "" "Messiaen UAB, unpublished novel mutation" "" "" "" "Unknown" "" "" "0" "" "" "g.38349512del" "" "pathogenic" "" "0000436722" "0" "33" "15" "38641715" "38641715" "subst" "0.00103098" "02253" "SPRED1_000129" "g.38641715C>T" "" "" "" "" "" "De novo" "" "rs144764225" "0" "" "" "g.38349514C>T" "" "likely benign" "" "0000436723" "0" "99" "15" "38643228" "38643228" "subst" "0" "02253" "SPRED1_000149" "g.38643228C>A" "" "Messiaen UAB, unpublished novel mutation" "" "" "" "Germline" "" "" "0" "" "" "g.38351027C>A" "" "pathogenic" "" "0000436724" "0" "99" "15" "38643230" "38643230" "dup" "0" "02253" "SPRED1_000063" "g.38643230dup" "" "Messiaen UAB, unpublished novel mutation" "" "" "novel / Domain: KBD" "Unknown" "" "" "0" "" "" "g.38351029dup" "" "pathogenic" "" "0000436725" "0" "99" "15" "38643230" "38643233" "del" "0" "02253" "SPRED1_000064" "g.38643230_38643233del" "" "{PMID:Messiaen 2009:19920235}" "" "" "Domain: KBD" "De novo" "" "" "0" "" "" "g.38351029_38351032del" "" "pathogenic" "" "0000436726" "0" "55" "15" "38643232" "38643232" "subst" "0.000200073" "02253" "SPRED1_000130" "g.38643232C>G" "" "" "" "" "Domain: KBD" "Unknown" "" "rs138553244" "0" "" "" "g.38351031C>G" "" "VUS" "" "0000436727" "0" "55" "15" "38643232" "38643232" "subst" "0.000200073" "02253" "SPRED1_000130" "g.38643232C>G" "" "Messiaen UAB, unpublished novel mutation" "" "" "Domain: KBD" "De novo" "" "rs138553244" "0" "" "" "g.38351031C>G" "" "VUS" "" "0000436728" "0" "99" "15" "38643281" "38643281" "subst" "0" "02253" "SPRED1_000112" "g.38643281C>T" "" "Messiaen UAB, unpublished novel mutation" "" "" "novel / Domain: KBD" "Unknown" "" "" "0" "" "" "g.38351080C>T" "" "pathogenic" "" "0000436729" "0" "55" "15" "38643297" "38643297" "subst" "8.1355E-6" "02253" "SPRED1_000065" "g.38643297G>A" "" "{PMID:Brems et al, 2012:22753041}" "" "" "Domain: KBD" "Unknown" "" "" "0" "" "" "g.38351096G>A" "" "VUS" "" "0000436730" "0" "55" "15" "38643299" "38643299" "subst" "4.06706E-6" "02253" "SPRED1_000066" "g.38643299C>T" "" "{PMID:Brems et al, 2012:22753041}" "" "" "Domain: KBD" "Unknown" "" "" "0" "" "" "g.38351098C>T" "" "VUS" "" "0000436731" "0" "55" "15" "38643303" "38643303" "subst" "0" "02253" "SPRED1_000067" "g.38643303A>G" "" "Messiaen UAB, unpublished novel mutation" "" "" "novel / EvolCons: B_taurus:yes ; C_jacchus:yes; D_melanogaster:no; D_rerio:yes; M_musculus:yes; O_cuniculus:yes; R_norvegicus:yes; X_tropicalis:yes / Domain: KBD" "Unknown" "" "" "0" "" "" "g.38351102A>G" "" "VUS" "" "0000436732" "0" "55" "15" "38643303" "38643303" "subst" "0" "02253" "SPRED1_000067" "g.38643303A>G" "" "Messiaen UAB, unpublished novel mutation" "" "" "novel / EvolCons: B_taurus:yes ; C_jacchus:yes; D_melanogaster:no; D_rerio:yes; M_musculus:yes; O_cuniculus:yes; R_norvegicus:yes; X_tropicalis:yes / Domain: KBD" "Unknown" "" "" "0" "" "" "g.38351102A>G" "" "VUS" "" "0000436733" "0" "77" "15" "38643311" "38643311" "subst" "0" "02253" "SPRED1_000114" "g.38643311T>G" "" "Messiaen UAB, unpublished novel mutation" "" "" "novel / EvolCons: B_taurus:yes ; C_jacchus:yes; D_melanogaster:no; D_rerio:yes; M_musculus:yes; O_cuniculus:yes; R_norvegicus:yes; X_tropicalis:yes / Domain: KBD" "De novo" "" "" "0" "" "" "g.38351110T>G" "" "likely pathogenic" "" "0000436734" "0" "99" "15" "38643311" "38643317" "del" "0" "02253" "SPRED1_000097" "g.38643311_38643317del" "" "Messiaen UAB, unpublished novel mutation" "" "" "novel / Domain: KBD" "Unknown" "" "" "0" "" "" "g.38351110_38351116del" "" "pathogenic" "" "0000436735" "0" "99" "15" "38643314" "38643314" "subst" "0" "02253" "SPRED1_000068" "g.38643314A>T" "" "{PMID:Spurlock 2009:19443465}" "" "" "Domain: KBD" "Germline" "" "" "0" "" "" "g.38351113A>T" "" "pathogenic" "" "0000436736" "0" "99" "15" "38643326" "38643327" "del" "0" "02253" "SPRED1_000069" "g.38643326_38643327del" "" "{PMID:Brems 2007:17704776}" "" "" "Domain: KBD" "Germline" "" "" "0" "" "" "g.38351125_38351126del" "" "pathogenic" "" "0000436737" "0" "59" "15" "38643326" "38643327" "del" "0" "00697" "SPRED1_000069" "g.38643326_38643327del" "" "{PMID:Brems 2007:17704776}" "" "" "Domain: KBD" "Germline" "" "" "0" "" "" "g.38351125_38351126del" "" "VUS" "" "0000436738" "0" "99" "15" "38643326" "38643327" "del" "0" "02253" "SPRED1_000069" "g.38643326_38643327del" "" "{PMID:Brems 2007:17704776}" "" "" "Domain: KBD" "De novo" "" "" "0" "" "" "g.38351125_38351126del" "" "pathogenic" "" "0000436739" "0" "99" "15" "38643362" "38643362" "dup" "0" "02253" "SPRED1_000070" "g.38643362dup" "" "{PMID:Brems et al, 2012:22753041}" "" "" "Domain: KBD" "Unknown" "" "" "0" "" "" "g.38351161dup" "" "pathogenic" "" "0000436740" "0" "99" "15" "38643397" "38643397" "del" "0" "02253" "SPRED1_000131" "g.38643397del" "" "Messiaen UAB, unpublished novel mutation" "" "" "novel / Domain: KBD" "Unknown" "" "" "0" "" "" "g.38351196del" "" "pathogenic" "" "0000436741" "0" "99" "15" "38643397" "38643397" "dup" "0" "02253" "SPRED1_000113" "g.38643397dup" "" "Messiaen UAB, unpublished novel mutation" "" "" "novel / Domain: KBD" "Germline" "" "" "0" "" "" "g.38351196dup" "" "pathogenic" "" "0000436742" "0" "99" "15" "38643404" "38643404" "dup" "0" "02253" "SPRED1_000071" "g.38643404dup" "" "Messiaen UAB, unpublished novel mutation" "" "" "novel" "Unknown" "" "" "0" "" "" "g.38351203dup" "" "pathogenic" "" "0000436743" "0" "99" "15" "38643422" "38643422" "dup" "0" "02253" "SPRED1_000151" "g.38643422dup" "" "Messiaen UAB, unpublished novel mutation" "" "" "" "Unknown" "" "" "0" "" "" "g.38351221dup" "" "pathogenic" "" "0000436744" "0" "99" "15" "38643453" "38643454" "del" "0" "02253" "SPRED1_000072" "g.38643453_38643454del" "" "{PMID:Messiaen 2009:19920235}" "" "" "" "Germline" "" "" "0" "" "" "g.38351252_38351253del" "" "pathogenic" "" "0000436745" "0" "99" "15" "38643453" "38643454" "del" "0" "02253" "SPRED1_000072" "g.38643453_38643454del" "" "{PMID:Messiaen 2009:19920235}" "" "" "" "Unknown" "" "" "0" "" "" "g.38351252_38351253del" "" "pathogenic" "" "0000436746" "0" "99" "15" "38643453" "38643454" "del" "0" "02253" "SPRED1_000072" "g.38643453_38643454del" "" "{PMID:Messiaen 2009:19920235}" "" "" "" "Unknown" "" "" "0" "" "" "g.38351252_38351253del" "" "pathogenic" "" "0000436747" "0" "33" "15" "38643456" "38643456" "subst" "0.000471522" "02253" "SPRED1_000073" "g.38643456T>C" "" "{PMID:Spencer 2011:21548021}" "" "" "" "De novo" "" "rs114636635" "0" "" "" "g.38351255T>C" "" "likely benign" "" "0000436748" "0" "33" "15" "38643456" "38643456" "subst" "0.000471522" "02253" "SPRED1_000073" "g.38643456T>C" "" "{PMID:Spencer 2011:21548021}" "" "" "" "Unknown" "" "rs114636635" "0" "" "" "g.38351255T>C" "" "likely benign" "" "0000436749" "0" "33" "15" "38643456" "38643456" "subst" "0.000471522" "02253" "SPRED1_000073" "g.38643456T>C" "" "{PMID:Spencer 2011:21548021}" "" "" "" "Unknown" "" "rs114636635" "0" "" "" "g.38351255T>C" "" "likely benign" "" "0000436750" "0" "33" "15" "38643456" "38643456" "subst" "0.000471522" "02253" "SPRED1_000073" "g.38643456T>C" "" "{PMID:Spencer 2011:21548021}" "" "" "description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline alteration and studied at the DNA and RNA level (pt-ID UAB-S55, UAB-S58 and UAB-S115) / EvolCons: B_taurus:yes ; C_jacchus:yes; D_melanogaster:no; D_rerio:yes; M_musculus:yes; O_cuniculus:yes; R_norvegicus:yes; X_tropicalis:no" "Unknown" "" "rs114636635" "0" "" "" "g.38351255T>C" "" "likely benign" "" "0000436751" "0" "33" "15" "38643456" "38643456" "subst" "0.000471522" "02253" "SPRED1_000073" "g.38643456T>C" "" "{PMID:Spencer 2011:21548021}" "" "" "novel / EvolCons: B_taurus:yes ; C_jacchus:yes; D_melanogaster:no; D_rerio:yes; M_musculus:yes; O_cuniculus:yes; R_norvegicus:yes; X_tropicalis:no" "Germline" "" "rs375700452" "0" "" "" "g.38351255T>C" "" "likely benign" "" "0000436752" "0" "33" "15" "38643456" "38643456" "subst" "0.000471522" "02253" "SPRED1_000073" "g.38643456T>C" "" "{PMID:Spencer 2011:21548021}" "" "" "novel / EvolCons: B_taurus:yes ; C_jacchus:yes; D_melanogaster:no; D_rerio:yes; M_musculus:yes; O_cuniculus:yes; R_norvegicus:yes; X_tropicalis:no" "Unknown" "" "rs375700452" "0" "" "" "g.38351255T>C" "" "likely benign" "" "0000436753" "0" "99" "15" "38643456" "38643457" "del" "0" "02253" "SPRED1_000099" "g.38643456_38643457del" "" "Messiaen UAB, unpublished novel mutation" "" "" "novel" "De novo" "" "" "0" "" "" "g.38351255_38351256del" "" "pathogenic" "" "0000436754" "0" "99" "15" "38643456" "38643457" "del" "0" "02253" "SPRED1_000132" "g.38643456_38643457del" "" "Messiaen UAB, unpublished novel mutation" "" "" "description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline alteration and studied at the DNA and RNA level (pt-ID UAB-S125)" "Unknown" "" "" "0" "" "" "g.38351255_38351256del" "" "pathogenic" "" "0000436755" "0" "33" "15" "38643461" "38643461" "subst" "4.06521E-6" "02253" "SPRED1_000153" "g.38643461T>C" "" "Messiaen UAB, unpublished novel mutation" "" "" "novel / EvolCons: B_taurus:yes ; C_jacchus:yes; D_melanogaster:no; D_rerio:unknown; M_musculus:yes; O_cuniculus:yes; R_norvegicus:yes; X_tropicalis:no" "Germline" "" "rs375700452" "0" "" "" "g.38351260T>C" "" "likely benign" "" "0000436756" "0" "33" "15" "38643468" "38643468" "subst" "2.84608E-5" "02253" "SPRED1_000074" "g.38643468C>T" "" "{PMID:Messiaen 2009:19920235}" "" "" "" "Unknown" "" "" "0" "" "" "g.38351267C>T" "" "likely benign" "" "0000436757" "0" "99" "15" "38643470" "38643470" "subst" "0" "02253" "SPRED1_000075" "g.38643470C>T" "" "{PMID:Denayer 2011a:21089071}" "" "" "" "Unknown" "" "" "0" "" "" "g.38351269C>T" "" "pathogenic" "" "0000436758" "0" "99" "15" "38643494" "38643494" "subst" "0" "02253" "SPRED1_000076" "g.38643494A>T" "" "{PMID:Brems 2007:17704776}" "" "" "" "Germline" "" "" "0" "" "" "g.38351293A>T" "" "pathogenic" "" "0000436759" "0" "99" "15" "38643503" "38643503" "subst" "0" "02253" "SPRED1_000077" "g.38643503C>T" "" "{PMID:Brems 2007:17704776}" "" "" "" "Germline" "" "" "0" "" "" "g.38351302C>T" "" "pathogenic" "" "0000436760" "0" "99" "15" "38643503" "38643503" "subst" "0" "02253" "SPRED1_000077" "g.38643503C>T" "" "{PMID:Brems 2007:17704776}" "" "" "" "Germline" "" "" "0" "" "" "g.38351302C>T" "" "pathogenic" "" "0000436761" "0" "99" "15" "38643503" "38643503" "subst" "0" "02253" "SPRED1_000077" "g.38643503C>T" "" "{PMID:Brems 2007:17704776}" "" "" "" "Unknown" "" "" "0" "" "" "g.38351302C>T" "" "pathogenic" "" "0000436762" "0" "99" "15" "38643503" "38643503" "subst" "0" "02253" "SPRED1_000077" "g.38643503C>T" "" "{PMID:Brems 2007:17704776}" "" "" "Brems" "Germline" "" "" "0" "" "" "g.38351302C>T" "" "pathogenic" "" "0000436763" "0" "99" "15" "38643519" "38643519" "del" "0" "02253" "SPRED1_000078" "g.38643519del" "" "{PMID:Laycock-van Spyk 2011:21649642}" "" "" "erroneously named c.988del in Laycock-van Spyk" "Unknown" "" "" "0" "" "" "g.38351318del" "" "pathogenic" "" "0000436764" "0" "99" "15" "38643521" "38643521" "subst" "0" "02253" "SPRED1_000079" "g.38643521G>T" "" "{PMID:Spencer 2011:21548021}" "" "" "" "Unknown" "" "" "0" "" "" "g.38351320G>T" "" "pathogenic" "" "0000436765" "0" "99" "15" "38643529" "38643530" "del" "0" "02253" "SPRED1_000115" "g.38643529_38643530del" "" "Messiaen UAB, unpublished novel mutation" "" "c.998_999delCT" "novel / Domain: SPR" "Germline" "" "" "0" "" "" "g.38351328_38351329del" "" "pathogenic" "" "0000436766" "0" "55" "15" "38643530" "38643530" "subst" "8.13464E-6" "02253" "SPRED1_000101" "g.38643530C>T" "" "Messiaen UAB, unpublished novel mutation" "" "" "novel / EvolCons: B_taurus:yes ; C_jacchus:yes; D_melanogaster:yes; D_rerio:yes; M_musculus:yes; O_cuniculus:yes; R_norvegicus:yes; X_tropicalis:no / Domain: SPR" "Germline" "" "" "0" "" "" "g.38351329C>T" "" "VUS" "" "0000436767" "0" "55" "15" "38643561" "38643561" "subst" "8.13101E-6" "02253" "SPRED1_000046" "g.38643561A>G" "" "{PMID:Spencer 2011:21548021}" "" "" "Domain: SPR" "Unknown" "" "" "0" "" "" "g.38351360A>G" "" "VUS" "" "0000436768" "0" "99" "15" "38643575" "38643576" "del" "0" "02253" "SPRED1_000047" "g.38643575_38643576del" "" "{PMID:Denayer 2011a:21089071}" "" "" "Domain: SPR" "Germline" "" "" "0" "" "" "g.38351374_38351375del" "" "pathogenic" "" "0000436769" "0" "99" "15" "38643575" "38643576" "del" "0" "02253" "SPRED1_000047" "g.38643575_38643576del" "" "{PMID:Denayer 2011a:21089071}" "" "" "Domain: SPR" "Germline" "" "" "0" "" "" "g.38351374_38351375del" "" "pathogenic" "" "0000436770" "0" "99" "15" "38643575" "38643576" "del" "0" "02253" "SPRED1_000047" "g.38643575_38643576del" "" "{PMID:Denayer 2011a:21089071}" "" "" "Domain: SPR" "Unknown" "" "" "0" "" "" "g.38351374_38351375del" "" "pathogenic" "" "0000436771" "0" "99" "15" "38643578" "38643579" "del" "0" "02253" "SPRED1_000048" "g.38643578_38643579del" "" "{PMID:Spurlock 2009:19443465}" "" "" "Domain: SPR" "Unknown" "" "" "0" "" "" "g.38351377_38351378del" "" "pathogenic" "" "0000436772" "0" "99" "15" "38643578" "38643590" "del" "0" "02253" "SPRED1_000049" "g.38643578_38643590del" "" "{PMID:Pasmant 2009:19366998}" "" "" "Domain: SPR" "Germline" "" "" "0" "" "" "g.38351377_38351389del" "" "pathogenic" "" "0000436773" "0" "99" "15" "38643578" "38643590" "del" "0" "02253" "SPRED1_000049" "g.38643578_38643590del" "" "{PMID:Pasmant 2009:19366998}" "" "" "Domain: SPR" "Unknown" "" "" "0" "" "" "g.38351377_38351389del" "" "pathogenic" "" "0000436774" "0" "99" "15" "38643578" "38643590" "del" "0" "02253" "SPRED1_000049" "g.38643578_38643590del" "" "{PMID:Pasmant 2009:19366998}" "" "" "Domain: SPR" "Germline" "" "" "0" "" "" "g.38351377_38351389del" "" "pathogenic" "" "0000436775" "0" "99" "15" "38643578" "38643590" "dup" "0" "02253" "SPRED1_000154" "g.38643578_38643590dup13" "" "Messiaen UAB, unpublished novel mutation" "" "" "novel / Domain: SPR\r\nVariant Error [ESYNTAX]: This genomic variant has an error (char 35: expected EOF). Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000436776" "0" "99" "15" "38643603" "38643603" "del" "0" "02253" "SPRED1_000050" "g.38643603del" "" "{PMID:Spencer 2011:21548021}" "" "" "Domain: SPR" "Unknown" "" "" "0" "" "" "g.38351402del" "" "pathogenic" "" "0000436777" "0" "55" "15" "38643640" "38643640" "subst" "8.13167E-6" "02253" "SPRED1_000155" "g.38643640C>T" "" "Messiaen UAB, unpublished novel mutation" "" "" "novel / Variant identified in mom / EvolCons: B_taurus:yes ; C_jacchus:yes; D_melanogaster:no; D_rerio:yes; M_musculus:yes; O_cuniculus:yes; R_norvegicus:yes; X_tropicalis:yes / Domain: SPR" "Germline" "" "" "0" "" "" "g.38351439C>T" "" "VUS" "" "0000436778" "0" "99" "15" "38643657" "38643657" "del" "0" "02253" "SPRED1_000156" "g.38643657del" "" "Messiaen UAB, unpublished novel mutation" "" "" "Domain: SPR" "Germline" "" "" "0" "" "" "g.38351456del" "" "pathogenic" "" "0000436779" "0" "99" "15" "38643679" "38643682" "del" "0" "02253" "SPRED1_000051" "g.38643679_38643682del" "" "{PMID:Brems 2007:17704776}" "" "" "Domain: SPR" "Unknown" "" "" "0" "" "" "g.38351478_38351481del" "" "pathogenic" "" "0000436780" "0" "99" "15" "38643679" "38643682" "del" "0" "02253" "SPRED1_000051" "g.38643679_38643682del" "" "{PMID:Brems 2007:17704776}" "" "" "Domain: SPR" "Unknown" "" "" "0" "" "" "g.38351478_38351481del" "" "pathogenic" "" "0000436781" "0" "99" "15" "38643679" "38643682" "del" "0" "02253" "SPRED1_000051" "g.38643679_38643682del" "" "{PMID:Brems 2007:17704776}" "" "" "Domain: SPR" "Unknown" "" "" "0" "" "" "g.38351478_38351481del" "" "pathogenic" "" "0000436782" "0" "99" "15" "38643679" "38643682" "del" "0" "02253" "SPRED1_000051" "g.38643679_38643682del" "" "{PMID:Brems 2007:17704776}" "" "" "description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S72; UAB-S91-2; UAB-S117) / Domain: SPR" "Unknown" "" "" "0" "" "" "g.38351478_38351481del" "" "pathogenic" "" "0000436783" "0" "99" "15" "38643679" "38643682" "del" "0" "02253" "SPRED1_000051" "g.38643679_38643682del" "" "{PMID:Brems 2007:17704776}" "" "" "description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S72; UAB-S91-2; UAB-S117) / Domain: SPR" "Unknown" "" "" "0" "" "" "g.38351478_38351481del" "" "pathogenic" "" "0000436784" "0" "99" "15" "38643679" "38643682" "del" "0" "02253" "SPRED1_000051" "g.38643679_38643682del" "" "{PMID:Brems 2007:17704776}" "" "" "description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S72; UAB-S91-2; UAB-S117) / Domain: SPR" "Germline" "" "" "0" "" "" "g.38351478_38351481del" "" "pathogenic" "" "0000436785" "0" "99" "15" "38643679" "38643682" "del" "0" "02253" "SPRED1_000051" "g.38643679_38643682del" "" "{PMID:Brems 2007:17704776}" "" "" "description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S72; UAB-S91-2; UAB-S117) / Domain: SPR" "Germline" "" "" "0" "" "" "g.38351478_38351481del" "" "pathogenic" "" "0000436786" "0" "99" "15" "38643679" "38643682" "del" "0" "02253" "SPRED1_000051" "g.38643679_38643682del" "" "{PMID:Brems 2007:17704776}" "" "" "description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S72; UAB-S91-2; UAB-S117) / Domain: SPR" "Germline" "" "" "0" "" "" "g.38351478_38351481del" "" "pathogenic" "" "0000436787" "0" "99" "15" "38643679" "38643682" "del" "0" "02253" "SPRED1_000051" "g.38643679_38643682del" "" "{PMID:Brems 2007:17704776}" "" "" "description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S72; UAB-S91-2; UAB-S117) / Domain: SPR" "Unknown" "" "" "0" "" "" "g.38351478_38351481del" "" "pathogenic" "" "0000436788" "0" "99" "15" "38643679" "38643682" "del" "0" "02253" "SPRED1_000051" "g.38643679_38643682del" "" "{PMID:Brems 2007:17704776}" "" "" "description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S72; UAB-S91-2; UAB-S117) / Domain: SPR" "Unknown" "" "" "0" "" "" "g.38351478_38351481del" "" "pathogenic" "" "0000436789" "0" "99" "15" "38643679" "38643682" "del" "0" "02253" "SPRED1_000051" "g.38643679_38643682del" "" "{PMID:Brems 2007:17704776}" "" "" "Domain: SPR" "De novo" "" "" "0" "" "" "g.38351478_38351481del" "" "pathogenic" "" "0000436790" "0" "59" "15" "38643679" "38643682" "del" "0" "00697" "SPRED1_000051" "g.38643679_38643682del" "" "{PMID:Brems 2007:17704776}" "" "" "Domain: SPR" "Unknown" "" "" "0" "" "" "g.38351478_38351481del" "" "VUS" "" "0000436791" "0" "99" "15" "38643679" "38643682" "del" "0" "02253" "SPRED1_000051" "g.38643679_38643682del" "" "{PMID:Brems 2007:17704776}" "" "" "Domain: SPR" "Unknown" "" "" "0" "" "" "g.38351478_38351481del" "" "pathogenic" "" "0000436792" "0" "99" "15" "38643679" "38643682" "del" "0" "02253" "SPRED1_000051" "g.38643679_38643682del" "" "{PMID:Brems 2007:17704776}" "" "" "Domain: SPR" "Germline" "" "" "0" "" "" "g.38351478_38351481del" "" "pathogenic" "" "0000436793" "0" "99" "15" "38643679" "38643682" "del" "0" "02253" "SPRED1_000051" "g.38643679_38643682del" "" "{PMID:Brems 2007:17704776}" "" "" "Domain: SPR" "Germline" "" "" "0" "" "" "g.38351478_38351481del" "" "pathogenic" "" "0000436794" "0" "33" "15" "38643722" "38643722" "subst" "0.00043088" "02253" "SPRED1_000052" "g.38643722G>A" "" "{PMID:Messiaen 2009:19920235}" "" "" "Domain: SPR" "Unknown" "" "" "0" "" "" "g.38351521G>A" "" "likely benign" "" "0000436795" "0" "33" "15" "38643722" "38643722" "subst" "0.00043088" "02253" "SPRED1_000052" "g.38643722G>A" "" "{PMID:Messiaen 2009:19920235}" "" "" "Domain: SPR" "Unknown" "" "" "0" "" "" "g.38351521G>A" "" "likely benign" "" "0000436796" "0" "99" "15" "38643734" "38643737" "dup" "0" "02253" "SPRED1_000053" "g.38643734_38643737dup" "" "{PMID:Messiaen 2009:19920235}" "" "" "Domain: SPR" "De novo" "" "" "0" "" "" "g.38351533_38351536dup" "" "pathogenic" "" "0000436797" "0" "55" "15" "38643753" "38643753" "subst" "0" "02253" "SPRED1_000090" "g.38643753T>A" "" "{PMID:Brems et al, 2012:22753041}" "" "" "Domain: SPR" "Unknown" "" "" "0" "" "" "g.38351552T>A" "" "VUS" "" "0000436798" "0" "99" "15" "38643773" "38643773" "subst" "0" "02253" "SPRED1_000054" "g.38643773C>G" "" "{PMID:Messiaen 2009:19920235}" "" "" "Domain: SPR" "Germline" "" "" "0" "" "" "g.38351572C>G" "" "pathogenic" "" "0000436799" "0" "99" "15" "38643773" "38643773" "subst" "0" "02253" "SPRED1_000054" "g.38643773C>G" "" "{PMID:Messiaen 2009:19920235}" "" "" "Domain: SPR" "Germline" "" "" "0" "" "" "g.38351572C>G" "" "pathogenic" "" "0000436800" "0" "55" "15" "38643776" "38643776" "subst" "0" "02253" "SPRED1_000055" "g.38643776T>C" "" "{PMID:Spencer 2011:21548021}" "" "" "Domain: SPR" "Unknown" "" "" "0" "" "" "g.38351575T>C" "" "VUS" "" "0000436801" "0" "55" "15" "38643776" "38643776" "subst" "0" "02253" "SPRED1_000055" "g.38643776T>C" "" "{PMID:Spencer 2011:21548021}" "" "" "description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S76) / EvolCons: B_taurus:yes ; C_jacchus:yes; D_melanogaster:yes; D_rerio:yes; M_musculus:yes; O_cuniculus:yes; R_norvegicus:yes; X_tropicalis:yes / Domain: SPR" "Unknown" "" "" "0" "" "" "g.38351575T>C" "" "VUS" "" "0000436802" "0" "99" "15" "38643778" "38643778" "dup" "0" "02253" "SPRED1_000056" "g.38643778dup" "" "{PMID:Messiaen 2009:19920235}" "" "" "Domain: SPR" "Germline" "" "" "0" "" "" "g.38351577dup" "" "pathogenic" "" "0000436803" "0" "99" "15" "38643782" "38643782" "del" "0" "02253" "SPRED1_000058" "g.38643782del" "" "{PMID:Messiaen 2009:19920235}" "" "" "description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S74) / Domain: SPR" "Germline" "" "" "0" "" "" "g.38351581del" "" "pathogenic" "" "0000436804" "0" "99" "15" "38643782" "38643782" "del" "0" "02253" "SPRED1_000058" "g.38643782del" "" "{PMID:Messiaen 2009:19920235}" "" "" "Domain: SPR" "Unknown" "" "" "0" "" "" "g.38351581del" "" "pathogenic" "" "0000436805" "0" "55" "15" "38643782" "38643782" "subst" "0" "02253" "SPRED1_000057" "g.38643782T>C" "" "Messiaen UAB, unpublished novel mutation" "" "" "novel / EvolCons: B_taurus:yes ; C_jacchus:yes; D_melanogaster:no; D_rerio:yes; M_musculus:yes; O_cuniculus:yes; R_norvegicus:yes; X_tropicalis:yes / Domain: SPR" "Germline" "" "" "0" "" "" "g.38351581T>C" "" "VUS" "" "0000436806" "0" "55" "15" "38643803" "38643803" "subst" "2.8462E-5" "02253" "SPRED1_000059" "g.38643803A>G" "" "{PMID:Brems et al, 2012:22753041}" "" "" "Domain: SPR" "Unknown" "" "" "0" "" "" "g.38351602A>G" "" "VUS" "" "0000436807" "0" "55" "15" "38643819" "38643819" "subst" "2.0334E-5" "02253" "SPRED1_000061" "g.38643819G>C" "" "{PMID:Brems et al, 2012:22753041}" "" "" "Domain: SPR" "Germline" "" "" "0" "" "" "g.38351618G>C" "" "VUS" "" "0000436808" "0" "99" "15" "38643819" "38643828" "del" "0" "02253" "SPRED1_000060" "g.38643819_38643828del" "" "{PMID:Laycock-van Spyk 2011:21649642}" "" "" "Domain: SPR" "Germline" "" "" "0" "" "" "g.38351618_38351627del" "" "pathogenic" "" "0000436809" "0" "55" "15" "38643828" "38643828" "subst" "6.91366E-5" "02253" "SPRED1_000061" "g.38643828G>A" "" "{PMID:Messiaen 2009:19920235}" "" "" "Domain: SPR" "Unknown" "" "" "0" "" "" "g.38351627G>A" "" "VUS" "" "0000436810" "0" "55" "15" "38643854" "38643854" "subst" "1.22451E-5" "02253" "SPRED1_000157" "g.38643854G>A" "" "Messiaen UAB, unpublished novel mutation" "" "" "novel / EvolCons: B_taurus:yes ; C_jacchus:yes; D_melanogaster:no; D_rerio:yes; M_musculus:yes; O_cuniculus:yes; R_norvegicus:yes; X_tropicalis:yes / Domain: SPR" "Germline" "" "" "0" "" "" "g.38351653G>A" "" "VUS" "" "0000436811" "0" "99" "15" "38382250" "39350983" "del" "0" "03012" "SPRED1_000133" "g.38382250_39350983del" "" "Popovici C, Marseille, France" "" "" "novel" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000436812" "0" "99" "15" "38382250" "39350983" "del" "0" "02253" "SPRED1_000159" "g.38382250_39350983del" "" "Messiaen UAB, unpublished novel mutation" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000436813" "0" "99" "15" "37792304" "38786086" "del" "0" "02253" "SPRED1_000089" "g.37792304_38786086del" "" "{PMID:Spencer 2011:21548021}" "" "" "0.878-0.993Mb sized deletion" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000436814" "0" "99" "15" "0" "0" "" "0" "02253" "SPRED1_000085" "g.?" "" "{PMID:Brems et al, 2012:22753041}" "" "c.-335-u440077_*5585+d1377954del" "1.92Mb deletion" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000436815" "0" "99" "15" "0" "0" "" "0" "02253" "SPRED1_000087" "g.?" "" "{PMID:Brems et al, 2012:22753041}" "" "c.-335-u5075783_*5585+d793907del" "3.24Mb deletion" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000436816" "0" "99" "15" "0" "0" "" "0" "02253" "SPRED1_000088" "g.?" "" "{PMID:Spencer 2011:21548021}" "" "c.-335-u5366652_*5585+d1150216del" "5.97Mb deletion" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000436817" "0" "99" "15" "0" "0" "" "0" "02253" "SPRED1_000086" "g.?" "" "{PMID:Brems et al, 2012:22753041}" "" "c.-335-u581346_*5585+d2556852del" "6.6Mb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000436818" "0" "99" "15" "38614538" "38614538" "dup" "0" "02253" "SPRED1_000023" "g.38614538dup" "" "{PMID:Spencer 2011:21548021}" "" "" "description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S66) / Domain: EVH-1" "De novo" "" "" "0" "" "" "g.38322337dup" "" "pathogenic" "" "0000554110" "0" "30" "15" "38591568" "38591568" "subst" "0" "01804" "SPRED1_000211" "g.38591568T>C" "" "" "" "SPRED1(NM_152594.2):c.33-6T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38299367T>C" "" "likely benign" "" "0000554111" "0" "90" "15" "38591634" "38591634" "subst" "0" "01943" "SPRED1_000212" "g.38591634G>C" "" "" "" "SPRED1(NM_152594.2):c.93G>C (p.W31C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38299433G>C" "" "pathogenic" "" "0000554112" "0" "50" "15" "38591665" "38591665" "subst" "0.000630297" "01804" "SPRED1_000006" "g.38591665G>A" "" "" "" "SPRED1(NM_152594.2):c.124G>A (p.(Val42Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38299464G>A" "" "VUS" "" "0000554113" "0" "30" "15" "38591723" "38591723" "subst" "2.03361E-5" "01804" "SPRED1_000213" "g.38591723G>A" "" "" "" "SPRED1(NM_152594.2):c.182G>A (p.(Arg61His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38299522G>A" "" "likely benign" "" "0000554114" "0" "90" "15" "38614594" "38614594" "dup" "0" "01943" "SPRED1_000031" "g.38614594dup" "" "" "" "SPRED1(NM_152594.2):c.360dupA (p.E121Rfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38322393dup" "" "pathogenic" "" "0000554115" "0" "30" "15" "38614606" "38614606" "subst" "0" "02327" "SPRED1_000214" "g.38614606T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38322405T>A" "" "likely benign" "" "0000554118" "0" "10" "15" "38641616" "38641616" "subst" "0.00162532" "02327" "SPRED1_000111" "g.38641616A>G" "" "" "" "SPRED1(NM_152594.2):c.583-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38349415A>G" "" "benign" "" "0000554119" "0" "30" "15" "38641689" "38641689" "subst" "0" "01804" "SPRED1_000216" "g.38641689T>G" "" "" "" "SPRED1(NM_152594.2):c.649T>G (p.(Ser217Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38349488T>G" "" "likely benign" "" "0000554121" "0" "30" "15" "38643200" "38643201" "del" "0" "02330" "SPRED1_000218" "g.38643200_38643201del" "" "" "" "SPRED1(NM_152594.3):c.685-15_685-14delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38350999_38351000del" "" "likely benign" "" "0000554122" "0" "90" "15" "38643397" "38643397" "dup" "0" "01943" "SPRED1_000113" "g.38643397dup" "" "" "" "SPRED1(NM_152594.2):c.867dupA (p.S290Ifs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38351196dup" "" "pathogenic" "" "0000554123" "0" "30" "15" "38643493" "38643493" "subst" "0.000130192" "02327" "SPRED1_000219" "g.38643493G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38351292G>A" "" "likely benign" "" "0000554124" "0" "10" "15" "38643574" "38643574" "subst" "0.866242" "02326" "SPRED1_000201" "g.38643574T>C" "" "" "" "SPRED1(NM_152594.3):c.1044T>C (p.V348=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38351373T>C" "" "benign" "" "0000554125" "0" "30" "15" "38643730" "38643730" "subst" "0" "01804" "SPRED1_000220" "g.38643730C>G" "" "" "" "SPRED1(NM_152594.2):c.1200C>G (p.(Phe400Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38351529C>G" "" "likely benign" "" "0000615244" "0" "30" "15" "38643207" "38643207" "subst" "0.000140916" "01943" "SPRED1_000209" "g.38643207T>C" "" "" "" "SPRED1(NM_152594.2):c.685-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38351006T>C" "" "likely benign" "" "0000649043" "1" "30" "15" "38646750" "38646750" "subst" "0" "03575" "SPRED1_000221" "g.38646750G>A" "18/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "18 heterozygous, no homozygous; {DB:CLININrs79309779}" "Germline" "" "rs79309779" "0" "" "" "g.38354549G>A" "" "likely benign" "" "0000657555" "0" "10" "15" "38641715" "38641715" "subst" "0.00103098" "02330" "SPRED1_000129" "g.38641715C>T" "" "" "" "SPRED1(NM_152594.2):c.675C>T (p.S225=, p.(=)), SPRED1(NM_152594.3):c.675C>T (p.S225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38349514C>T" "" "benign" "" "0000657556" "0" "50" "15" "38643714" "38643714" "subst" "0" "01943" "SPRED1_000222" "g.38643714C>G" "" "" "" "SPRED1(NM_152594.2):c.1184C>G (p.T395S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38351513C>G" "" "VUS" "" "0000691783" "0" "90" "15" "38545387" "38545387" "subst" "0" "02327" "SPRED1_000223" "g.38545387A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000691784" "0" "10" "15" "38641715" "38641715" "subst" "0.00103098" "01804" "SPRED1_000129" "g.38641715C>T" "" "" "" "SPRED1(NM_152594.2):c.675C>T (p.S225=, p.(=)), SPRED1(NM_152594.3):c.675C>T (p.S225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000691785" "0" "30" "15" "38641728" "38641728" "subst" "0" "01943" "SPRED1_000224" "g.38641728A>C" "" "" "" "SPRED1(NM_152594.2):c.684+4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000708822" "0" "90" "15" "38591611" "38591611" "subst" "0" "01164" "SPRED1_000014" "g.38591611C>T" "" "PMID: 17704776, 19920235, 21089071" "" "" "ACMG: PVS1, PM2, PS4_SUP: class 5" "Germline" "?" "rs121434313" "" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000791123" "0" "70" "15" "38643488" "38643488" "dup" "0" "01164" "SPRED1_000225" "g.38643488dup" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "?" "" "0" "" "" "g.38351287dup" "" "likely pathogenic (dominant)" "ACMG" "0000806644" "0" "10" "15" "38631840" "38631840" "subst" "0" "02327" "SPRED1_000226" "g.38631840T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000806645" "0" "10" "15" "38632148" "38632148" "subst" "0" "02327" "SPRED1_000175" "g.38632148A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000806646" "0" "50" "15" "38643551" "38643551" "subst" "0" "02325" "SPRED1_000227" "g.38643551A>G" "" "" "" "SPRED1(NM_152594.3):c.1021A>G (p.R341G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806647" "0" "10" "15" "38646696" "38646696" "subst" "0" "02327" "SPRED1_000228" "g.38646696G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000806648" "0" "10" "15" "38647695" "38647695" "subst" "0" "02327" "SPRED1_000229" "g.38647695G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000806649" "0" "10" "15" "38647811" "38647811" "subst" "0" "02327" "SPRED1_000230" "g.38647811G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000806650" "0" "10" "15" "38648527" "38648527" "subst" "0" "02327" "SPRED1_000231" "g.38648527T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000806651" "0" "10" "15" "38648975" "38648975" "subst" "0" "02327" "SPRED1_000232" "g.38648975C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000810840" "0" "90" "15" "38591587" "38591587" "subst" "0" "04161" "SPRED1_000011" "g.38591587C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000846477" "0" "70" "15" "38643462" "38643463" "del" "0" "01164" "SPRED1_000233" "g.38643462_38643463del" "" "" "" "" "ACMG: PVS1, PM2_SUP\r\nDifferent frameshift variants (c.923_924del (p.Ser308Cysfs*4), c.1149_1152del (p.Gly385Ilefs*20)) , up- and downstream of this variant have been observed in individuals and families with Legius syndrome (PMID: 19920235, 17704776, 21089071)" "Germline" "" "" "0" "" "" "g.38351261_38351262del" "" "likely pathogenic (dominant)" "ACMG" "0000853995" "0" "50" "15" "38591711" "38591711" "subst" "4.06607E-6" "02325" "SPRED1_000234" "g.38591711A>G" "" "" "" "SPRED1(NM_152594.3):c.170A>G (p.D57G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892009" "0" "90" "15" "38591611" "38591611" "subst" "0" "02327" "SPRED1_000014" "g.38591611C>T" "" "" "" "SPRED1(NM_152594.2):c.70C>T (p.R24*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000930372" "0" "30" "15" "38591665" "38591665" "subst" "0.000630297" "02327" "SPRED1_000006" "g.38591665G>A" "" "" "" "SPRED1(NM_152594.2):c.124G>A (p.(Val42Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967741" "0" "90" "15" "38643489" "38643492" "del" "0" "02327" "SPRED1_000235" "g.38643489_38643492del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000981185" "0" "90" "15" "38632018" "38632018" "dup" "0" "02327" "SPRED1_000236" "g.38632018dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000981186" "0" "50" "15" "38643422" "38643422" "subst" "0" "01804" "SPRED1_000237" "g.38643422G>A" "" "" "" "SPRED1(NM_152594.3):c.892G>A (p.(Asp298Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981187" "0" "50" "15" "38643474" "38643474" "subst" "8.54006E-5" "01804" "SPRED1_000238" "g.38643474C>T" "" "" "" "SPRED1(NM_152594.3):c.944C>T (p.(Pro315Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000987704" "0" "70" "15" "38614538" "38614538" "dup" "0" "03565" "SPRED1_000240" "g.38614538dup" "" "{PMID:Chelleri 2024:39031930}" "" "303_304insA" "" "De novo" "" "" "0" "" "" "g.38322337dup" "" "likely pathogenic" "" "0000987705" "0" "70" "15" "38591587" "38591587" "subst" "0" "03565" "SPRED1_000011" "g.38591587C>T" "" "{PMID:Chelleri 2024:39031930}" "" "" "" "De novo" "" "" "0" "" "" "g.38299386C>T" "" "likely pathogenic" "" "0000987706" "0" "70" "15" "38591593" "38591593" "subst" "0" "03565" "SPRED1_000012" "g.38591593C>T" "" "{PMID:Chelleri 2024:39031930}" "" "" "" "De novo" "" "" "0" "" "" "g.38299392C>T" "" "likely pathogenic" "" "0000987707" "0" "70" "15" "38643579" "38643579" "del" "0" "03565" "SPRED1_000244" "g.38643579del" "" "{PMID:Chelleri 2024:39031930}" "" "" "" "De novo" "" "" "0" "" "" "g.38351378del" "" "likely pathogenic" "" "0000987708" "0" "70" "15" "38591731" "38591731" "subst" "0" "03565" "SPRED1_000009" "g.38591731C>T" "" "{PMID:Chelleri 2024:39031930}" "" "" "" "De novo" "" "" "0" "" "" "g.38299530C>T" "" "likely pathogenic" "" "0000987709" "0" "70" "15" "38591731" "38591731" "subst" "0" "03565" "SPRED1_000009" "g.38591731C>T" "" "{PMID:Chelleri 2024:39031930}" "" "" "" "De novo" "" "" "0" "" "" "g.38299530C>T" "" "likely pathogenic" "" "0000987710" "0" "70" "15" "38643453" "38643454" "del" "0" "03565" "SPRED1_000243" "g.38643453_38643454del" "" "{PMID:Chelleri 2024:39031930}" "" "" "" "De novo" "" "" "0" "" "" "g.38351252_38351253del" "" "likely pathogenic" "" "0000987711" "0" "70" "15" "38643296" "38643296" "subst" "4.06762E-6" "03565" "SPRED1_000242" "g.38643296C>T" "" "{PMID:Chelleri 2024:39031930}" "" "" "" "De novo" "" "" "0" "" "" "g.38351095C>T" "" "likely pathogenic" "" "0000987712" "0" "70" "15" "38643732" "38643732" "subst" "2.84539E-5" "03565" "SPRED1_000246" "g.38643732G>T" "" "{PMID:Chelleri 2024:39031930}" "" "" "" "De novo" "" "" "0" "" "" "g.38351531G>T" "" "likely pathogenic" "" "0000987713" "0" "70" "15" "38643611" "38643611" "del" "0" "03565" "SPRED1_000245" "g.38643611del" "" "{PMID:Chelleri 2024:39031930}" "" "" "" "De novo" "" "" "0" "" "" "g.38351410del" "" "likely pathogenic" "" "0000987714" "0" "70" "15" "38643679" "38643682" "del" "0" "03565" "SPRED1_000051" "g.38643679_38643682del" "" "{PMID:Chelleri 2024:39031930}" "" "" "" "De novo" "" "" "0" "" "" "g.38351478_38351481del" "" "likely pathogenic" "" "0000987715" "0" "70" "15" "38545419" "38545419" "subst" "0" "03565" "SPRED1_000239" "g.38545419G>C" "" "{PMID:Chelleri 2024:39031930}" "" "" "" "De novo" "" "" "0" "" "" "g.38253218G>C" "" "likely pathogenic" "" "0000987716" "0" "70" "15" "38614564" "38614565" "del" "0" "03565" "SPRED1_000241" "g.38614564_38614565del" "" "{PMID:Chelleri 2024:39031930}" "" "" "" "De novo" "" "" "0" "" "" "g.38322363_38322364del" "" "likely pathogenic" "" "0001001337" "0" "90" "15" "38591587" "38591587" "subst" "0" "01804" "SPRED1_000011" "g.38591587C>T" "" "" "" "SPRED1(NM_152594.2):c.46C>T (p.(Arg16*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001001338" "0" "30" "15" "38614475" "38614475" "subst" "0" "01804" "SPRED1_000247" "g.38614475A>G" "" "" "" "SPRED1(NM_152594.2):c.241A>G (p.(Ile81Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001339" "0" "50" "15" "38643353" "38643353" "subst" "4.06455E-6" "01804" "SPRED1_000248" "g.38643353G>T" "" "" "" "SPRED1(NM_152594.2):c.823G>T (p.(Asp275Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001340" "0" "30" "15" "38643791" "38643791" "subst" "4.06616E-5" "01804" "SPRED1_000249" "g.38643791G>A" "" "" "" "SPRED1(NM_152594.2):c.1261G>A (p.(Val421Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001341" "0" "30" "15" "38643812" "38643812" "subst" "8.13524E-6" "01804" "SPRED1_000250" "g.38643812C>T" "" "" "" "SPRED1(NM_152594.2):c.1282C>T (p.(Arg428Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001342" "0" "50" "15" "38643834" "38643834" "subst" "2.03427E-5" "01804" "SPRED1_000251" "g.38643834G>A" "" "" "" "SPRED1(NM_152594.2):c.1304G>A (p.(Cys435Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015193" "0" "70" "15" "38641695" "38641695" "subst" "0" "02327" "SPRED1_000252" "g.38641695G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001026429" "0" "90" "15" "38591718" "38591718" "dup" "0" "02327" "SPRED1_000253" "g.38591718dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001040300" "0" "50" "15" "38643828" "38643828" "subst" "0" "01804" "SPRED1_000254" "g.38643828G>T" "" "" "" "SPRED1(NM_152594.3):c.1298G>T (p.(Cys433Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046491" "0" "90" "15" "38614539" "38614539" "del" "0" "02327" "SPRED1_000027" "g.38614539del" "" "" "" "SPRED1(NM_152594.2):c.305delC (p.T102Sfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 SPRED1 ## Count = 374 "{{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}}" "0000064361" "00020222" "10" "582" "52" "582" "52" "c.582+52A>G" "r.(=)" "p.(=)" "5i" "0000064362" "00020222" "90" "70" "0" "70" "0" "c.70C>T" "r.(?)" "p.(Arg24*)" "2" "0000064363" "00020222" "50" "684" "50" "684" "53" "c.684+50_684+53delinsTTAAATTAGTA" "r.(=)" "p.(=)" "6i" "0000064364" "00020222" "10" "424" "-18" "424" "-18" "c.424-18G>A" "r.(=)" "p.(=)" "4i" "0000064365" "00020222" "50" "1440" "0" "1440" "0" "c.*105A>G" "r.(=)" "p.(=)" "7" "0000064366" "00020222" "10" "423" "52" "423" "52" "c.423+52C>A" "r.(=)" "p.(=)" "4i" "0000253882" "00020222" "10" "207" "15" "207" "15" "c.207+15A>G" "r.(=)" "p.(=)" "" "0000253883" "00020222" "10" "377" "-10" "377" "-10" "c.377-10A>G" "r.(=)" "p.(=)" "" "0000253885" "00020222" "10" "583" "-7" "583" "-7" "c.583-7A>G" "r.(=)" "p.(=)" "" "0000308795" "00020222" "10" "1044" "0" "1044" "0" "c.1044T>C" "r.(?)" "p.(Val348=)" "" "0000308796" "00020222" "10" "291" "0" "291" "0" "c.291G>A" "r.(?)" "p.(Lys97=)" "" "0000308797" "00020222" "10" "424" "-18" "424" "-18" "c.424-18G>A" "r.(=)" "p.(=)" "" "0000308798" "00020222" "10" "424" "-8" "424" "-8" "c.424-8C>A" "r.(=)" "p.(=)" "" "0000308799" "00020222" "10" "939" "0" "939" "0" "c.939G>A" "r.(?)" "p.(Thr313=)" "" "0000311525" "00020222" "10" "1044" "0" "1044" "0" "c.1044T>C" "r.(?)" "p.(Val348=)" "" "0000311526" "00020222" "10" "291" "0" "291" "0" "c.291G>A" "r.(?)" "p.(Lys97=)" "" "0000311527" "00020222" "10" "424" "-18" "424" "-18" "c.424-18G>A" "r.(=)" "p.(=)" "" "0000311528" "00020222" "10" "424" "-8" "424" "-8" "c.424-8C>A" "r.(=)" "p.(=)" "" "0000315614" "00020222" "10" "1017" "0" "1017" "0" "c.1017G>T" "r.(?)" "p.(Gln339His)" "" "0000315616" "00020222" "90" "1045" "0" "1046" "0" "c.1045_1046del" "r.(?)" "p.(Arg349GlyfsTer11)" "" "0000315617" "00020222" "90" "1048" "0" "1060" "0" "c.1048_1060del" "r.(?)" "p.(Gly350MetfsTer52)" "" "0000315618" "00020222" "90" "190" "0" "190" "0" "c.190C>T" "r.(?)" "p.(Arg64Ter)" "" "0000315619" "00020222" "90" "207" "1" "207" "1" "c.207+1G>A" "r.spl?" "p.?" "" "0000315620" "00020222" "90" "305" "0" "305" "0" "c.305del" "r.(?)" "p.(Thr102SerfsTer19)" "" "0000315621" "00020222" "10" "32" "20" "32" "20" "c.32+20C>T" "r.(=)" "p.(=)" "" "0000315622" "00020222" "90" "345" "0" "364" "0" "c.345_364del" "r.(?)" "p.(Ile116TyrfsTer11)" "" "0000315623" "00020222" "90" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(Arg117Ter)" "" "0000315625" "00020222" "50" "377" "-9" "377" "-9" "c.377-9T>G" "r.(=)" "p.(=)" "" "0000315626" "00020222" "10" "424" "-18" "424" "-18" "c.424-18G>A" "r.(=)" "p.(=)" "" "0000315627" "00020222" "90" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Ter)" "" "0000315628" "00020222" "30" "587" "0" "587" "0" "c.587C>T" "r.(?)" "p.(Thr196Ile)" "" "0000315629" "00020222" "30" "675" "0" "675" "0" "c.675C>T" "r.(?)" "p.(Ser225=)" "" "0000315630" "00020222" "90" "70" "0" "70" "0" "c.70C>T" "r.(?)" "p.(Arg24Ter)" "" "0000315631" "00020222" "50" "734" "0" "734" "0" "c.734T>A" "r.(?)" "p.(Ile245Asn)" "" "0000315632" "00020222" "90" "781" "0" "781" "0" "c.781T>G" "r.(?)" "p.(Tyr261Asp)" "" "0000315633" "00020222" "10" "926" "0" "926" "0" "c.926T>C" "r.(?)" "p.(Val309Ala)" "" "0000315634" "00020222" "90" "93" "0" "93" "0" "c.93G>T" "r.(?)" "p.(Trp31Cys)" "" "0000323977" "00020222" "30" "832" "0" "832" "0" "c.832T>G" "r.(?)" "p.(Ser278Ala)" "" "0000337941" "00020222" "10" "424" "-18" "424" "-18" "c.424-18G>A" "r.(=)" "p.(=)" "" "0000337942" "00020222" "10" "424" "-8" "424" "-8" "c.424-8C>A" "r.(=)" "p.(=)" "" "0000337943" "00020222" "30" "685" "-8" "685" "-8" "c.685-8T>C" "r.(=)" "p.(=)" "" "0000339942" "00020222" "10" "291" "0" "291" "0" "c.291G>A" "r.(?)" "p.(Lys97=)" "" "0000339943" "00020222" "30" "675" "0" "675" "0" "c.675C>T" "r.(?)" "p.(Ser225=)" "" "0000339944" "00020222" "30" "939" "0" "939" "0" "c.939G>A" "r.(?)" "p.(Thr313=)" "" "0000339945" "00020222" "10" "1044" "0" "1044" "0" "c.1044T>C" "r.(?)" "p.(Val348=)" "" "0000340958" "00020222" "30" "951" "0" "951" "0" "c.951A>T" "r.(?)" "p.(Ser317=)" "" "0000342010" "00020222" "90" "46" "0" "46" "0" "c.46C>T" "r.(?)" "p.(Arg16Ter)" "" "0000347934" "00020222" "70" "335" "0" "335" "0" "c.335T>C" "r.(?)" "p.(Phe112Ser)" "" "0000348728" "00020222" "30" "446" "0" "446" "0" "c.446G>A" "r.(?)" "p.(Ser149Asn)" "" "0000436553" "00020222" "99" "-845" "0" "32" "8517" "c.(?_-845)_(32+8517_?)del" "r.0?" "p.0?" "prom-1" "0000436554" "00020222" "99" "-800" "0" "32" "1" "c.(?_-800)_(32+1_?)del" "r.0?" "p.0?" "prom-1" "0000436555" "00020222" "77" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(?)" "1" "0000436556" "00020222" "99" "7" "0" "7" "0" "c.7G>T" "r.(?)" "p.(Glu3*)" "1" "0000436557" "00020222" "99" "7" "0" "20" "0" "c.7_20del" "r.(?)" "p.(Glu3Phefs*2)" "1" "0000436558" "00020222" "99" "18" "0" "18" "0" "c.18del" "r.(?)" "p.(Thr7Leufs*15)" "1" "0000436559" "00020222" "99" "22" "0" "22" "0" "c.22del" "r.(?)" "p.(Ser8Leufs*14)" "1" "0000436560" "00020222" "55" "26" "0" "26" "0" "c.26A>T" "r.26a>u" "p.Asp9Val" "1" "0000436561" "00020222" "55" "26" "0" "26" "0" "c.26A>T" "r.26a>u" "p.Asp9Val" "1" "0000436562" "00020222" "55" "26" "0" "26" "0" "c.26A>T" "r.26a>u" "p.Asp9Val" "1" "0000436563" "00020222" "55" "26" "0" "26" "0" "c.26A>T" "r.26a>u" "p.Asp9Val" "1" "0000436564" "00020222" "35" "27" "0" "27" "0" "c.27C>A" "r.(?)" "p.(Asp9Glu)" "1" "0000436565" "00020222" "33" "30" "0" "30" "0" "c.30C>A" "r.30c>a" "p.Asn10Lys" "1" "0000436566" "00020222" "33" "30" "0" "30" "0" "c.30C>A" "r.30c>a" "p.Asn10Lys" "1" "0000436567" "00020222" "77" "32" "2" "32" "2" "c.32+2T>C" "r.spl?" "p.(?)" "1" "0000436568" "00020222" "33" "32" "43" "32" "43" "c.32+43A>G" "r.=" "p.=" "1" "0000436569" "00020222" "99" "33" "-20604" "684" "401" "c.33-20604_684+401delinsGAAA" "r.33_684del" "p.Asp11Glufs*4" "2-6" "0000436570" "00020222" "99" "33" "-17014" "423" "568" "c.(?_33-17014)_(423+568)delins5" "r.(?)" 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"p.(Gln213*)" "6" "0000436719" "00020222" "99" "643" "0" "643" "0" "c.643C>T" "r.(?)" "p.(Gln215*)" "6" "0000436720" "00020222" "99" "667" "0" "667" "0" "c.667del" "r.667delc" "p.(Leu223*)" "6" "0000436721" "00020222" "99" "673" "0" "673" "0" "c.673del" "r.673del" "p.(Ser225Profs*7)" "6" "0000436722" "00020222" "33" "675" "0" "675" "0" "c.675C>T" "r.(?)" "p.(Ser225Ser)" "6" "0000436723" "00020222" "99" "698" "0" "698" "0" "c.698C>A" "r.698c>a" "p.Ser233*" "7" "0000436724" "00020222" "99" "700" "0" "700" "0" "c.700dup" "r.700dup" "p.Ile234Asnfs*9" "7" "0000436725" "00020222" "99" "700" "0" "703" "0" "c.700_703del" "r.(?)" "p.(Ile234Aspfs*14)" "7" "0000436726" "00020222" "55" "702" "0" "702" "0" "c.702C>G" "r.(?)" "p.(Ile234Met)" "7" "0000436727" "00020222" "55" "702" "0" "702" "0" "c.702C>G" "r.(?)" "p.(Ile234Met)" "7" "0000436728" "00020222" "99" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(Arg251*)" "7" "0000436729" "00020222" "55" "767" "0" "767" "0" "c.767G>A" "r.767g>a" "p.Arg256His" "7" "0000436730" "00020222" "55" "769" "0" "769" "0" "c.769C>T" "r.769c>u" "p.Arg257Cys" "7" "0000436731" "00020222" "55" "773" "0" "773" "0" "c.773A>G" "r.773a>g" "p.Tyr258Cys" "7" "0000436732" "00020222" "55" "773" "0" "773" "0" "c.773A>G" "r.773a>g" "p.Tyr258Cys" "7" "0000436733" "00020222" "77" "781" "0" "781" "0" "c.781T>G" "r.(?)" "p.(Tyr261Asp)" "7" "0000436734" "00020222" "99" "781" "0" "787" "0" "c.781_787del" "r.781_787del" "p.Tyr261Ilefs*40" "7" "0000436735" "00020222" "99" "784" "0" "784" "0" "c.784A>T" "r.(?)" "p.(Arg262*)" "7" "0000436736" "00020222" "99" "796" "0" "797" "0" "c.796_797del" "r.(?)" "p.(Met266Valfs*4)" "7" "0000436737" "00020222" "59" "796" "0" "797" "0" "c.796_797del" "r.(?)" "p.(Met266Valfs*4)" "7" "0000436738" "00020222" "99" "796" "0" "797" "0" "c.796_797del" "r.(?)" "p.(Met266Valfs*4)" "7" "0000436739" "00020222" "99" "832" "0" "832" "0" "c.832dup" "r.832dup" "p.Ser278Phefs*7" "7" "0000436740" "00020222" "99" "867" "0" "867" "0" "c.867del" "r.867del" "p.Lys289Asnfs*14" "7" "0000436741" "00020222" "99" "867" "0" "867" "0" "c.867dup" "r.(?)" "p.(Ser290Ilefs*10)" "7" "0000436742" "00020222" "99" "874" "0" "874" "0" "c.874dup" "r.874dupu" "p.Tyr292Leufs*8" "7" "0000436743" "00020222" "99" "892" "0" "892" "0" "c.892dup" "r.892dup" "p.(Asp298Glyfs*20" "7" "0000436744" "00020222" "99" "923" "0" "924" "0" "c.923_924del" "r.(?)" "p.(Ser308Cysfs*4)" "7" "0000436745" "00020222" "99" "923" "0" "924" "0" "c.923_924del" "r.(?)" "p.(Ser308Cysfs*4)" "7" "0000436746" "00020222" "99" "923" "0" "924" "0" "c.923_924del" "r.(?)" "p.(Ser308Cysfs*4)" "7" "0000436747" "00020222" "33" "926" "0" "926" "0" "c.926T>C" "r.926u>c" "p.Val309Ala" "7" "0000436748" "00020222" "33" "926" "0" "926" "0" "c.926T>C" "r.926u>c" "p.Val309Ala" "7" "0000436749" "00020222" "33" "926" "0" "926" "0" "c.926T>C" "r.926u>c" "p.Val309Ala" "7" "0000436750" "00020222" "33" "926" "0" "926" "0" "c.926T>C" "r.926u>c" "p.Val309Ala" "7" "0000436751" "00020222" "33" "926" "0" "926" "0" "c.926T>C" "r.926u>c" "p.Val309Ala" "7" "0000436752" "00020222" "33" "926" "0" "926" "0" "c.926T>C" "r.926u>c" "p.Val309Ala" "7" "0000436753" "00020222" "99" "926" "0" "927" "0" "c.926_927del" "r.926_927del" "p.Val309Glyfs*3" "7" "0000436754" "00020222" "99" "926" "0" "927" "0" "c.926_927del" "r.926_927del" "p.Val309Glyfs*3" "7" "0000436755" "00020222" "33" "931" "0" "931" "0" "c.931T>C" "r.931u>c" "p.Phe311Leu" "7" "0000436756" "00020222" "33" "938" "0" "938" "0" "c.938C>T" "r.(?)" "p.(Thr313Met)" "7" "0000436757" "00020222" "99" "940" "0" "940" "0" "c.940C>T" "r.(?)" "p.(Gln314*)" "7" "0000436758" "00020222" "99" "964" "0" "964" "0" "c.964A>T" "r.(?)" "p.(Lys322*)" "7" "0000436759" "00020222" "99" "973" "0" "973" "0" "c.973C>T" "r.(?)" "p.(Arg325*)" "7" "0000436760" "00020222" "99" "973" "0" "973" "0" "c.973C>T" "r.(?)" "p.(Arg325*)" "7" "0000436761" "00020222" "99" "973" "0" "973" "0" "c.973C>T" "r.(?)" "p.(Arg325*)" "7" "0000436762" "00020222" "99" "973" "0" "973" "0" "c.973C>T" "r.(?)" "p.(Arg325*)" "7" "0000436763" "00020222" "99" "989" "0" "989" "0" "c.989del" "r.(?)" "p.(Gly330Valfs*76)" "7" "0000436764" "00020222" "99" "991" "0" "991" "0" "c.991G>T" "r.991g>u" "p.Glu331*" "7" "0000436765" "00020222" "99" "999" "0" "1000" "0" "c.999_1000del" "r.(?)" "p.(Arg334Leufs*9)" "7" "0000436766" "00020222" "55" "1000" "0" "1000" "0" "c.1000C>T" "r.1000c>u" "p.Arg334Cys" "7" "0000436767" "00020222" "55" "1031" "0" "1031" "0" "c.1031A>G" "r.1031a>g" "p.His344Arg" "7" "0000436768" "00020222" "99" "1045" "0" "1046" "0" "c.1045_1046del" "r.(?)" "p.(Arg349Glyfs*11)" "7" "0000436769" "00020222" "99" "1045" "0" "1046" "0" "c.1045_1046del" "r.(?)" "p.(Arg349Glyfs*11)" "7" "0000436770" "00020222" "99" "1045" "0" "1046" "0" "c.1045_1046del" "r.(?)" "p.(Arg349Glyfs*11)" "7" "0000436771" "00020222" "99" "1048" "0" "1049" "0" "c.1048_1049del" "r.(?)" "p.(Gly350Glyfs*9)" "7" "0000436772" "00020222" "99" "1048" "0" "1060" "0" "c.1048_1060del" "r.(?)" "p.(Gly350Metfs*52)" "7" "0000436773" "00020222" "99" "1048" "0" "1060" "0" "c.1048_1060del" "r.(?)" "p.(Gly350Metfs*52)" "7" "0000436774" "00020222" "99" "1048" "0" "1060" "0" "c.1048_1060del" "r.(?)" "p.(Gly350Metfs*52)" "7" "0000436775" "00020222" "99" "1048" "0" "1060" "0" "c.1048_1060dup" "r.(1048_1060dup13)" "p.(Asn354Glyfs*11)" "7" "0000436776" "00020222" "99" "1073" "0" "1073" "0" "c.1073del" "r.1073delc" "p.Pro358Leufs*48" "7" "0000436777" "00020222" "55" "1110" "0" "1110" "0" "c.1110C>T" "r.1110c>t" "p.Leu370Leu" "7" "0000436778" "00020222" "99" "1127" "0" "1127" "0" "c.1127del" "r.(?)" "p.(Leu376Cysfs*30)" "7" "0000436779" "00020222" "99" "1149" "0" "1152" "0" "c.1149_1152del" "r.1149_1152del" "p.Gly385Ilefs*20" "7" "0000436780" "00020222" "99" "1149" "0" "1152" "0" "c.1149_1152del" "r.1149_1152del" "p.Gly385Ilefs*20" "7" "0000436781" "00020222" "99" "1149" "0" "1152" "0" "c.1149_1152del" "r.1149_1152del" "p.Gly385Ilefs*20" "7" "0000436782" "00020222" "99" "1149" "0" "1152" "0" "c.1149_1152del" "r.1149_1152del" "p.Gly385Ilefs*20" "7" "0000436783" "00020222" "99" "1149" "0" "1152" "0" "c.1149_1152del" "r.1149_1152del" "p.Gly385Ilefs*20" "7" "0000436784" "00020222" "99" "1149" "0" "1152" "0" "c.1149_1152del" "r.1149_1152del" "p.Gly385Ilefs*20" "7" "0000436785" "00020222" "99" "1149" "0" "1152" "0" "c.1149_1152del" "r.1149_1152del" "p.Gly385Ilefs*20" "7" "0000436786" "00020222" "99" "1149" "0" "1152" "0" "c.1149_1152del" "r.1149_1152del" "p.Gly385Ilefs*20" "7" "0000436787" "00020222" "99" "1149" "0" "1152" "0" "c.1149_1152del" "r.1149_1152del" "p.Gly385Ilefs*20" "7" "0000436788" "00020222" "99" "1149" "0" "1152" "0" "c.1149_1152del" "r.1149_1152del" "p.Gly385Ilefs*20" "7" "0000436789" "00020222" "99" "1149" "0" "1152" "0" "c.1149_1152del" "r.1149_1152del" "p.Gly385Ilefs*20" "7" "0000436790" "00020222" "59" "1149" "0" "1152" "0" "c.1149_1152del" "r.1149_1152del" "p.Gly385Ilefs*20" "7" "0000436791" "00020222" "99" "1149" "0" "1152" "0" "c.1149_1152del" "r.1149_1152del" "p.Gly385Ilefs*20" "7" "0000436792" "00020222" "99" "1149" "0" "1152" "0" "c.1149_1152del" "r.1149_1152del" "p.Gly385Ilefs*20" "7" "0000436793" "00020222" "99" "1149" "0" "1152" "0" "c.1149_1152del" "r.1149_1152del" "p.Gly385Ilefs*20" "7" "0000436794" "00020222" "33" "1192" "0" "1192" "0" "c.1192G>A" "r.(?)" "p.(Asp398Asn)" "7" "0000436795" "00020222" "33" "1192" "0" "1192" "0" "c.1192G>A" "r.(?)" "p.(Asp398Asn)" "7" "0000436796" "00020222" "99" "1204" "0" "1207" "0" "c.1204_1207dup" "r.(?)" "p.(Arg403Leufs*30)" "7" "0000436797" "00020222" "55" "1223" "0" "1223" "0" "c.1223T>A" "r.1223u>a" "p.Val408Glu" "7" "0000436798" "00020222" "99" "1243" "0" "1243" "0" "c.1243C>G" "r.(?)" "p.(Pro415Ala)" "7" "0000436799" "00020222" "99" "1243" "0" "1243" "0" "c.1243C>G" "r.(?)" "p.(Pro415Ala)" "7" "0000436800" "00020222" "55" "1246" "0" "1246" "0" "c.1246T>C" "r.1246u>c" "p.Cys416Arg" "7" "0000436801" "00020222" "55" "1246" "0" "1246" "0" "c.1246T>C" "r.1246u>c" "p.Cys416Arg" "7" "0000436802" "00020222" "99" "1248" "0" "1248" "0" "c.1248dup" "r.(?)" "p.(Met417Tyrfs*15)" "7" "0000436803" "00020222" "99" "1252" "0" "1252" "0" "c.1252del" "r.1252del" "p.Cys418Alafs*6" "7" "0000436804" "00020222" "99" "1252" "0" "1252" "0" "c.1252del" "r.1252del" "p.Cys418Alafs*6" "7" "0000436805" "00020222" "55" "1252" "0" "1252" "0" "c.1252T>C" "r.1252u>c" "p.Cys418Arg" "7" "0000436806" "00020222" "55" "1273" "0" "1273" "0" "c.1273A>G" "r.1273a>g" "p.Met425Val" "7" "0000436807" "00020222" "55" "1289" "0" "1289" "0" "c.1289G>C" "r.1289g>c" "p.Gly430Ala" "7" "0000436808" "00020222" "99" "1289" "0" "1298" "0" "c.1289_1298del" "r.(?)" "p.(Gly430Valfs*29)" "7" "0000436809" "00020222" "55" "1298" "0" "1298" "0" "c.1298G>A" "r.(?)" "p.(Cys433Tyr)" "7" "0000436810" "00020222" "55" "1324" "0" "1324" "0" "c.1324G>A" "r.1324g>a" "p.A442Thr" "7" "0000436811" "00020222" "99" "-163137" "0" "708453" "0" "c.-163137_*707118del" "r.0" "p.0" "TGD+flanking" "0000436812" "00020222" "99" "-163137" "0" "708453" "0" "c.-163137_*707118del" "r.0" "p.0" "TGD+flanking" "0000436813" "00020222" "99" "-753083" "0" "143556" "0" "c.-753083_*142221del" "r.0" "p.0" "TGD+flanking" "0000436814" "00020222" "99" "-440412" "0" "1384874" "0" "c.-440412_*1383539del" "r.0" "p.0" "TGD+flanking" "0000436815" "00020222" "99" "-5076117" "0" "800828" "0" "c.-5076117_*799493del" "r.0" "p.0" "TGD+flanking" "0000436816" "00020222" "99" "-5366987" "0" "1157136" "0" "c.-5366987_*1155801del" "r.0" "p.0" "TGD+flanking" "0000436817" "00020222" "99" "-581681" "0" "2563772" "0" "c.-581681_*2562437del" "r.0" "p.0" "TGD+flanking" "0000436818" "00020222" "99" "304" "0" "304" "0" "c.304dup" "r.304dup" "p.Thr102Asnfs*7" "3" "0000554110" "00020222" "30" "33" "-6" "33" "-6" "c.33-6T>C" "r.(=)" "p.(=)" "" "0000554111" "00020222" "90" "93" "0" "93" "0" "c.93G>C" "r.(?)" "p.(Trp31Cys)" "" "0000554112" "00020222" "50" "124" "0" "124" "0" "c.124G>A" "r.(?)" "p.(Val42Ile)" "" "0000554113" "00020222" "30" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Arg61His)" "" "0000554114" "00020222" "90" "360" "0" "360" "0" "c.360dup" "r.(?)" "p.(Glu121ArgfsTer13)" "" "0000554115" "00020222" "30" "372" "0" "372" "0" "c.372T>A" "r.(?)" "p.(Ser124=)" "" "0000554118" "00020222" "10" "583" "-7" "583" "-7" "c.583-7A>G" "r.(=)" "p.(=)" "" "0000554119" "00020222" "30" "649" "0" "649" "0" "c.649T>G" "r.(?)" "p.(Ser217Ala)" "" "0000554121" "00020222" "30" "685" "-15" "685" "-14" "c.685-15_685-14del" "r.(=)" "p.(=)" "" "0000554122" "00020222" "90" "867" "0" "867" "0" "c.867dup" "r.(?)" "p.(Ser290IlefsTer10)" "" "0000554123" "00020222" "30" "963" "0" "963" "0" "c.963G>A" "r.(?)" "p.(Lys321=)" "" "0000554124" "00020222" "10" "1044" "0" "1044" "0" "c.1044T>C" "r.(?)" "p.(Val348=)" "" "0000554125" "00020222" "30" "1200" "0" "1200" "0" "c.1200C>G" "r.(?)" "p.(Phe400Leu)" "" "0000615244" "00020222" "30" "685" "-8" "685" "-8" "c.685-8T>C" "r.(=)" "p.(=)" "" "0000649043" "00020222" "30" "4220" "0" "4220" "0" "c.*2885G>A" "r.(=)" "p.(=)" "" "0000657555" "00020222" "10" "675" "0" "675" "0" "c.675C>T" "r.(?)" "p.(Ser225=)" "" "0000657556" "00020222" "50" "1184" "0" "1184" "0" "c.1184C>G" "r.(?)" "p.(Thr395Ser)" "" "0000691783" "00020222" "90" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.(Met1?)" "" "0000691784" "00020222" "10" "675" "0" "675" "0" "c.675C>T" "r.(?)" "p.(Ser225=)" "" "0000691785" "00020222" "30" "684" "4" "684" "4" "c.684+4A>C" "r.spl?" "p.?" "" "0000708822" "00020222" "90" "70" "0" "70" "0" "c.70C>T" "r.(?)" "p.(Arg24*)" "2" "0000791123" "00020222" "70" "958" "0" "958" "0" "c.958dup" "r.(?)" "p.(Ile320Asnfs*2)" "" "0000806644" "00020222" "10" "424" "-98" "424" "-98" "c.424-98T>C" "r.(=)" "p.(=)" "" "0000806645" "00020222" "10" "582" "52" "582" "52" "c.582+52A>G" "r.(=)" "p.(=)" "" "0000806646" "00020222" "50" "1021" "0" "1021" "0" "c.1021A>G" "r.(?)" "p.(Arg341Gly)" "" "0000806647" "00020222" "10" "4166" "0" "4166" "0" "c.*2831G>A" "r.(=)" "p.(=)" "" "0000806648" "00020222" "10" "5165" "0" "5165" "0" "c.*3830G>A" "r.(=)" "p.(=)" "" "0000806649" "00020222" "10" "5281" "0" "5281" "0" "c.*3946G>A" "r.(=)" "p.(=)" "" "0000806650" "00020222" "10" "5997" "0" "5997" "0" "c.*4662T>A" "r.(=)" "p.(=)" "" "0000806651" "00020222" "10" "6445" "0" "6445" "0" "c.*5110C>T" "r.(=)" "p.(=)" "" "0000810840" "00020222" "90" "46" "0" "46" "0" "c.46C>T" "r.(?)" "p.(Arg16*)" "" "0000846477" "00020222" "70" "932" "0" "933" "0" "c.932_933del" "r.(?)" "p.(Phe311*)" "" "0000853995" "00020222" "50" "170" "0" "170" "0" "c.170A>G" "r.(?)" "p.(Asp57Gly)" "" "0000892009" "00020222" "90" "70" "0" "70" "0" "c.70C>T" "r.(?)" "p.(Arg24Ter)" "" "0000930372" "00020222" "30" "124" "0" "124" "0" "c.124G>A" "r.(?)" "p.(Val42Ile)" "" "0000967741" "00020222" "90" "959" "0" "962" "0" "c.959_962del" "r.(?)" "p.(Ile320Argfs*85)" "" "0000981185" "00020222" "90" "504" "0" "504" "0" "c.504dup" "r.(?)" "p.(Arg169*)" "" "0000981186" "00020222" "50" "892" "0" "892" "0" "c.892G>A" "r.(?)" "p.(Asp298Asn)" "" "0000981187" "00020222" "50" "944" "0" "944" "0" "c.944C>T" "r.(?)" "p.(Pro315Leu)" "" "0000987704" "00020222" "70" "304" "0" "304" "0" "c.304dup" "r.(?)" "p.(Thr102Asnfs*7)" "" "0000987705" "00020222" "70" "46" "0" "46" "0" "c.46C>T" "r.(?)" "p.(Arg16*)" "" "0000987706" "00020222" "70" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18*)" "" "0000987707" "00020222" "70" "1049" "0" "1049" "0" "c.1049del" "r.(?)" "p.(Gly350Glufs*56)" "" "0000987708" "00020222" "70" "190" "0" "190" "0" "c.190C>T" "r.(?)" "p.(Arg64*)" "" "0000987709" "00020222" "70" "190" "0" "190" "0" "c.190C>T" "r.(?)" "p.(Arg64*)" "" "0000987710" "00020222" "70" "921" "0" "922" "0" "c.921_922del" "r.(?)" "p.(Ser308Cysfs*4)" "" "0000987711" "00020222" "70" "766" "0" "766" "0" "c.766C>T" "r.(?)" "p.(Arg256Cys)" "" "0000987712" "00020222" "70" "1202" "0" "1202" "0" "c.1202G>T" "r.(?)" "p.(Cys401Phe)" "" "0000987713" "00020222" "70" "1078" "0" "1078" "0" "c.1078del" "r.(?)" "p.(Arg361Aspfs*45)" "" "0000987714" "00020222" "70" "1149" "0" "1152" "0" "c.1149_1152del" "r.(?)" "p.(Gly385Ilefs*20)" "" "0000987715" "00020222" "70" "32" "1" "32" "1" "c.32+1G>C" "r.spl" "p.?" "" "0000987716" "00020222" "70" "330" "0" "331" "0" "c.330_331del" "r.(?)" "p.(Arg110Serfs*3)" "" "0001001337" "00020222" "90" "46" "0" "46" "0" "c.46C>T" "r.(?)" "p.(Arg16Ter)" "" "0001001338" "00020222" "30" "241" "0" "241" "0" "c.241A>G" "r.(?)" "p.(Ile81Val)" "" "0001001339" "00020222" "50" "823" "0" "823" "0" "c.823G>T" "r.(?)" "p.(Asp275Tyr)" "" "0001001340" "00020222" "30" "1261" "0" "1261" "0" "c.1261G>A" "r.(?)" "p.(Val421Ile)" "" "0001001341" "00020222" "30" "1282" "0" "1282" "0" "c.1282C>T" "r.(?)" "p.(Arg428Cys)" "" "0001001342" "00020222" "50" "1304" "0" "1304" "0" "c.1304G>A" "r.(?)" "p.(Cys435Tyr)" "" "0001015193" "00020222" "70" "655" "0" "655" "0" "c.655G>T" "r.(?)" "p.(Glu219*)" "" "0001026429" "00020222" "90" "177" "0" "177" "0" "c.177dup" "r.(?)" "p.(Ile60Tyrfs*18)" "" "0001040300" "00020222" "50" "1298" "0" "1298" "0" "c.1298G>T" "r.(?)" "p.(Cys433Phe)" "" "0001046491" "00020222" "90" "305" "0" "305" "0" "c.305del" "r.(?)" "p.(Thr102SerfsTer19)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 288 "{{screeningid}}" "{{variantid}}" "0000037236" "0000064361" "0000037237" "0000064362" "0000037238" "0000064363" "0000037239" "0000064364" "0000037240" "0000064365" "0000037241" "0000064366" "0000206905" "0000436553" "0000206906" "0000436554" "0000206907" "0000436555" "0000206908" "0000436556" "0000206909" "0000436557" "0000206910" "0000436558" "0000206911" "0000436559" "0000206912" "0000436560" "0000206913" "0000436561" "0000206914" "0000436562" "0000206915" "0000436563" "0000206916" "0000436564" "0000206917" "0000436565" "0000206918" "0000436566" "0000206919" "0000436567" "0000206920" "0000436568" "0000206921" "0000436569" "0000206922" "0000436570" "0000206923" "0000436571" "0000206924" "0000436572" "0000206925" "0000436573" "0000206926" "0000436574" "0000206927" "0000436575" "0000206928" "0000436576" "0000206929" "0000436577" "0000206930" "0000436578" "0000206931" "0000436579" 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"0000207166" "0000436814" "0000207167" "0000436815" "0000207168" "0000436816" "0000207169" "0000436817" "0000207170" "0000436818" "0000207171" "0000436818" "0000292354" "0000649043" "0000325686" "0000708822" "0000378368" "0000791123" "0000384275" "0000810840" "0000409327" "0000846477" "0000453184" "0000987704" "0000453185" "0000987705" "0000453186" "0000987706" "0000453187" "0000987707" "0000453188" "0000987708" "0000453189" "0000987709" "0000453190" "0000987710" "0000453191" "0000987711" "0000453191" "0000987712" "0000453192" "0000987713" "0000453193" "0000987714" "0000453194" "0000987715" "0000453195" "0000987716"