### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FLT4) # 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}}" "FLT4" "fms-related tyrosine kinase 4" "5" "q34-q35" "unknown" "NG_011536.1" "UD_132118703724" "" "https://www.LOVD.nl/FLT4" "" "1" "3767" "2324" "136352" "1" "1" "1" "1" "Aliases for FLT4 include VEGFR3, PCL, FLT41, LMPH1A\r\n This database is one of the \"Vascular anomalies and lymphedema\" gene variant databases, curated by the Laboratory of Human Molecular Genetics, de Duve Institute, Brussels (Belgium).\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/FLT4_codingDNA.html" "1" "" "
This database is one of the \"Vascular anomalies and lymphedema\" gene variant databases." "-1" "" "-1" "00001" "2010-01-12 00:00:00" "00006" "2018-05-11 17:27:00" "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}}" "00024081" "FLT4" "transcript variant 1" "001" "NM_182925.4" "" "NP_891555.2" "" "" "" "-79" "5778" "4092" "180076624" "180028506" "00006" "2015-12-02 10:52:53" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01418" "LMPHM1" "lymphatic malformation, type 1" "AD" "153100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02415" "HCI" "hemangioma, capillary infantile (HCI)" "AD" "602089" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-06-12 11:46:00" "02737" "OHSS" "ovarian hyperstimulation syndrome" "AD" "608115" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-02-08 10:20:02" "04250" "-" "retinal degeneration" "" "" "" "" "" "00006" "2015-05-04 22:12:01" "" "" "05327" "LMPH" "lymphedema (LMPH)" "IC" "" "" "" "" "00006" "2017-09-07 10:22:15" "00006" "2021-12-10 21:51:32" "06685" "CHTD7" "Congenital heart defects, multiple types, 7" "AD" "618780" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "FLT4" "01418" "FLT4" "02415" "FLT4" "06685" ## Individuals ## Do not remove or alter this header ## ## Count = 118 "{{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}}" "00055186" "" "" "" "1" "" "00125" "{PMID:Ferrell 1998:9817924}, {PMID:Karkkainen 2000:10835628}" "" "" "no" "(United States)" "" "0" "" "" "white" "" "00055187" "" "" "" "1" "" "00125" "{PMID:Ferrell 1998:9817924}, {PMID:Karkkainen 2000:10835628}" "" "" "no" "(United States)" "" "0" "" "" "" "" "00055188" "" "" "" "1" "" "00125" "{PMID:Ferrell 1998:9817924}, {PMID:Karkkainen 2000:10835628}" "" "" "no" "(United States)" "" "0" "" "" "" "" "00055189" "" "" "" "1" "" "00125" "{PMID:Ferrell 1998:9817924}, {PMID:Karkkainen 2000:10835628}" "" "" "no" "(United States)" "" "0" "" "" "" "" "00055190" "" "" "" "1" "" "00125" "{PMID:Irrthum 2000:10856194}" "" "M" "no" "Afghanistan" "" "0" "" "" "" "" "00055191" "" "" "" "1" "" "00125" "{PMID:Evans 2003:12960217}" "" "" "no" "" "" "0" "" "" "" "" "00055192" "" "" "" "1" "" "00125" "{PMID:Evans 1999:9973292}, {PMID:Evans 2003:12960217}" "" "" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00055193" "" "" "" "1" "" "00125" "{PMID:Evans 1999:9973292}, {PMID:Evans 2003:12960217}" "" "" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "Irish" "" "00055194" "" "" "" "1" "" "00125" "{PMID:Evans 1999:9973292}, {PMID:Evans 2003:12960217}" "" "" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00055195" "" "" "" "1" "" "00125" "{PMID:Evans 2003:12960217}" "" "" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00055196" "" "" "" "1" "" "00125" "{PMID:Evans 2003:12960217}" "" "" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00055197" "" "" "" "1" "" "00125" "{PMID:Evans 1999:9973292}, {PMID:Evans 2003:12960217}" "" "" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "white?" "" "00055198" "" "" "" "1" "" "00125" "{PMID:Evans 2003:12960217}" "" "" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "white?" "" "00055199" "" "" "" "1" "" "00125" "{PMID:Spiegel 2005:16231305}, {PMID:Spiegel 2006:16924388}" "" "F" "?" "" "" "0" "" "" "Arabic" "" "00055200" "" "" "" "1" "" "00125" "{PMID:Lev-Sagie 2003:12528167}, {PMID:Ghalamkarpour 2006:16965327}" "" "F" "no" "(Belgium)" "" "0" "" "" "" "" "00055201" "" "" "" "1" "" "00125" "{PMID:Ghalamkarpour 2006:16965327}" "No FH." "M" "no" "(Belgium)" "" "0" "" "" "" "" "00055202" "" "" "" "1" "" "00125" "{PMID:Ghalamkarpour 2006:16965327}" "" "F" "no" "" "" "0" "" "" "" "" "00055203" "" "" "" "1" "" "00125" "{PMID:Ghalamkarpour 2006:16965327}" "No FH." "M" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00055204" "" "" "" "1" "" "00125" "{PMID:Butler 2007:17458866}" "" "M" "no" "(United States)" "" "0" "" "" "" "" "00055205" "" "" "" "1" "" "00125" "{PMID:Yu 2007:17945164}" "" "M" "no" "(China)" "" "0" "" "" "China" "" "00055206" "" "" "" "1" "" "00125" "{PMID:Futatani 2008:18279219}" "" "F" "no" "(Japan)" "" "0" "" "" "Japan" "" "00055207" "" "" "" "1" "" "00125" "{PMID:Futatani 2008:18279219}" "Positive family history." "M" "no" "(Japan)" "" "0" "" "" "Japan" "" "00055208" "" "" "" "2" "" "00125" "{PMID:Connell 2009:19002718}" "" "" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00055209" "" "" "" "2" "" "00125" "{PMID:Connell 2009:19002718}" "" "" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00055210" "" "" "" "2" "" "00125" "{PMID:Connell 2009:19002718}" "" "" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00055211" "" "" "" "2" "" "00125" "{PMID:Connell 2009:19002718}" "" "" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00055212" "" "" "" "3" "" "00125" "{PMID:Connell 2009:19002718}" "" "" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00055213" "" "" "" "2" "" "00125" "{PMID:Connell 2009:19002718}" "" "" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00055214" "" "" "" "1" "" "00125" "{PMID:Connell 2009:19002718}" "" "" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00055215" "" "" "" "3" "" "00125" "{PMID:Connell 2009:19002718}" "" "" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00055216" "" "" "" "2" "" "00125" "{PMID:Connell 2009:19002718}" "" "" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00055217" "" "" "" "2" "" "00125" "{PMID:Connell 2009:19002718}" "" "" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00055218" "" "" "" "2" "" "00125" "{PMID:Connell 2009:19002718}" "" "" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00055219" "" "" "" "1" "" "00125" "{PMID:Connell 2009:19002718}" "" "" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00055220" "" "" "" "2" "" "00125" "{PMID:Connell 2009:19002718}" "" "" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00055221" "" "" "" "2" "" "00125" "{PMID:Connell 2009:19002718}" "" "" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00055222" "" "" "" "1" "" "00125" "{PMID:Ghalamkarpour 2009:19289394}" "No FH, unaffected parents." "F" "yes" "(Belgium)" "" "0" "" "" "Hispanic" "" "00055223" "" "" "" "1" "" "00125" "{PMID:Ghalamkarpour 2009:19394045}" "" "M" "no" "(Belgium)" "" "0" "" "" "white" "" "00055768" "" "" "" "1" "" "00034" "{PMID:Evans 2003:12960217}" "" "" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "white?" "" "00055769" "" "" "" "4" "" "00034" "{PMID:Connell 2009:19002718}" "" "" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00055770" "" "" "" "1" "" "00034" "{PMID:Mizuno 2005:15904433}" "" "F" "no" "Japan" "" "0" "" "" "Japan" "" "00055771" "" "" "" "3" "" "00034" "{PMID:Verstraeten 2009:18719607}" "Both parents no clinically visible oedema, but mother confirmed asymptomatic carrier." "M" "no" "" "" "0" "" "" "white" "" "00055772" "" "" "" "2" "" "00034" "{PMID:Connell 2009:19002718}" "" "" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00055773" "" "" "" "2" "" "00034" "{PMID:Connell 2009:19002718}" "" "" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00055774" "" "" "" "2" "" "00034" "{PMID: Kitsiou-Tzeli 2010:20555004}" "FHx: father mutation positive but asymptomatic." "M" "no" "Greece" "" "0" "" "" "" "" "00055775" "" "" "" "1" "" "00034" "{PMID:Carver 2007:17250670}, {PMID:Connell 2009:19002718}" "" "" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00055776" "" "" "" "1" "" "00034" "{PMID:Carver 2007:17250670}, {PMID:Connell 2009:19002718}" "" "M" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00055777" "" "" "" "2" "" "00034" "{PMID:Connell 2009:19002718}" "" "" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00055778" "" "" "" "2" "" "00034" "{PMID:Ghalamkarpour 2006:16965327}" "" "M" "no" "" "" "0" "" "" "" "" "00055779" "" "" "" "4" "" "00034" "{PMID:Connell 2009:19002718}" "" "" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00055780" "" "" "" "1" "" "00034" "{PMID:Ghalamkarpour 2009:19394045}" "" "M" "?" "(Belgium)" "" "0" "" "" "African" "" "00055781" "" "" "" "1" "" "00034" "{PMID:Evans 1999:9973292}, {PMID:Evans 2003:12960217}" "" "" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "white?" "" "00055782" "" "" "" "7" "" "00034" "{PMID:Gordon 2012:23074044}" "Family history: two sisters, mother and maternal grandmother affected. Son and nephew have hydrocoeles." "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00055783" "" "" "" "4" "" "00034" "{PMID:Gordon 2012:23074044}" "Family history: son has congenital lymphoedema of the right foot. Her father had bilateral hydrocoeles. Paternal great-grandmother had bilateral lower limb lymphoedema." "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00055784" "" "" "" "2" "" "00034" "{PMID:Gordon 2012:23074044}" "His son has the same phenotype. Distant cousin of Ped 2." "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00055785" "" "" "" "1" "" "00034" "{PMID:Gordon 2012:23074044}" "Family history: his father is an asymptomatic carrier of VEGFR3 mutation." "M" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "white" "" "00055786" "" "" "" "2" "" "00034" "{PMID:Gordon 2012:23074044}" "" "F" "no" "Finland" "" "0" "" "" "white?" "" "00055787" "" "" "" "3" "" "00034" "{PMID:Gordon 2012:23074044}" "" "F" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "white" "" "00055788" "" "" "" "3" "" "00034" "{PMID:Gordon 2012:23074044}" "Family history: brother has congenital lymphoedema of both feet. Mother is an asymptomatic carrier." "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00055789" "" "" "" "5" "" "00034" "{PMID:Gordon 2012:23074044}" "Family history: two cousins with congenital lymphoedema of both feet. His mother and uncle are asymptomatic carriers." "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00055790" "" "" "" "4" "" "00034" "{PMID:Gordon 2012:23074044}" "Family history: mother is an asymptomatic carrier, but maternal grandmother and great-grandmother had bilateral lower limb lymphoedema." "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00055791" "" "" "" "1" "" "00034" "{PMID:Gordon 2012:23074044}" "" "F" "no" "Belgium" "" "0" "" "" "white?" "" "00055792" "" "" "" "1" "" "00034" "{PMID:Gordon 2012:23074044}" "" "M" "no" "Belgium" "" "0" "" "" "white?" "" "00055793" "" "" "" "5" "" "00034" "{PMID:Gordon 2012:23074044}" "Family history: son has congenital lymphoedema of both feet. Brother, uncle and grandfather also affected." "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00055794" "" "" "" "5" "" "00034" "{PMID:Gordon 2012:23074044}" "Family history: sister, nephew, uncle and grandfather have lower limb lymphoedema." "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00055795" "" "" "" "3" "" "00034" "{PMID:Gordon 2012:23074044}" "" "M" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "white" "" "00055796" "" "" "" "4" "" "00034" "{PMID:Gordon 2012:23074044}" "Family history: son, daughter and brother are similarly affected." "M" "no" "" "" "0" "" "" "" "" "00055797" "" "" "" "2" "" "00034" "{PMID:Gordon 2012:23074044}" "Family history: father has lymphoedema of left foot." "M" "no" "Lithuania" "" "0" "" "" "white" "" "00055798" "" "" "" "2" "" "00034" "{PMID:Gordon 2012:23074044}" "Family history: mother has congenital lymphoedema of both feet." "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00055799" "" "" "" "1" "" "00034" "{PMID:Gordon 2012:23074044}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "white?" "" "00055800" "" "" "" "1" "" "00034" "{PMID:Gordon 2012:23074044}" "" "?" "?" "Netherlands" "" "0" "" "" "white?" "" "00055801" "" "" "" "1" "" "00034" "{PMID:Gordon 2012:23074044}" "" "F" "?" "(Belgium)" "" "0" "" "" "white?" "" "00055802" "" "" "" "2" "" "00034" "{PMID:Gordon 2012:23074044}" "Family history: father has bilateral below-knee lymphoedema and hydrocoele." "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00055803" "" "" "" "1" "" "00034" "{PMID:Gordon 2012:23074044}" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00055804" "" "" "" "1" "" "00034" "{PMID:Gordon 2012:23074044}" "" "M" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "white/Indian" "" "00055805" "" "" "" "3" "" "00034" "{PMID:Gordon 2012:23074044}" "Family history: mother and maternal aunt both have bilateral lower limb lymphoedema with onset in childhood." "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "Indian" "" "00055806" "" "" "" "1" "" "00034" "{PMID:Gordon 2012:23074044}" "" "F" "no" "Spain" "" "0" "" "" "white?" "" "00055807" "" "" "" "1" "" "00034" "{PMID:Gordon 2012:23074044}" "" "?" "?" "Spain" "" "0" "" "" "white?" "" "00055808" "" "" "" "2" "" "00034" "{PMID:Gordon 2012:23074044}" "" "?" "?" "Spain" "" "0" "" "" "white?" "" "00055809" "" "" "" "3" "" "00034" "{PMID:Gordon 2012:23074044}" "family, 3 affected" "M" "no" "Spain" "" "0" "" "" "white?" "" "00055810" "" "" "" "1" "" "00034" "{PMID:Gordon 2012:23074044}" "" "M" "no" "Spain" "" "0" "" "" "white?" "" "00055811" "" "" "" "5" "" "00034" "{PMID:Gordon 2012:23074044}" "Family history: son has congenital below-knee lymphoedema and hydrocoele. Mother, aunt and grandmother also affected." "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00055812" "" "" "" "1" "" "00034" "{PMID:Gordon 2012:23074044}" "Family history: father has late-onset left below-knee lymphoedema." "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00055813" "" "" "" "3" "" "00034" "{PMID:Gordon 2012:23074044}" "Family history: sister has bilateral lower limb lymphoedema. Father is an asymptomatic carrier." "M" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "white?" "" "00055814" "" "" "" "2" "" "00034" "{PMID:Gordon 2012:23074044}" "family, 2 affected" "M" "no" "Spain" "" "0" "" "" "white?" "" "00055815" "" "" "" "2" "" "00034" "{PMID:Gordon 2012:23074044}" "Family history: son has congenital lymphoedema of both feet." "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00055816" "" "" "" "1" "" "00034" "{PMID:Gordon 2012:23074044}" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00055817" "" "" "" "2" "" "00034" "{PMID:Gordon 2012:23074044}" "" "F" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "Any other mixed background" "" "00055818" "" "" "" "3" "" "00034" "{PMID:Gordon 2012:23074044}" "Family history: her son has congenital lymphoedema of both feet, with large calibre veins and bilateral hydocoeles. Her brother has congenital lymphoedema of both feet." "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00055819" "" "" "" "1" "" "00034" "{PMID:Gordon 2012:23074044}" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00055820" "" "" "" "4" "" "00034" "{PMID:Gordon 2012:23074044}" "family, 4 affected" "M" "no" "Spain" "" "0" "" "" "white?" "" "00055821" "" "" "" "2" "" "00034" "{PMID:Gordon 2012:23074044}" "FHx: father also has mutation." "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00055822" "" "" "" "3" "" "00034" "{PMID:Gordon 2012:23074044}" "family, 3 affected" "F" "no" "Spain" "" "0" "" "" "white?" "" "00055823" "" "" "" "1" "" "00034" "{PMID:Gordon 2012:23074044}" "" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00055968" "" "" "" "1" "" "00034" "" "" "" "no" "" "" "0" "" "" "" "" "00055969" "" "" "" "1" "" "00034" "" "" "" "no" "" "" "0" "" "" "" "" "00055970" "" "" "" "1" "" "00034" "" "" "" "no" "" "" "0" "" "" "" "" "00055971" "" "" "" "1" "" "00034" "" "" "" "no" "" "" "0" "" "" "" "" "00055974" "" "" "" "1" "" "00034" "" "" "" "" "" "" "0" "" "" "" "" "00150113" "" "" "" "1" "" "02322" "" "" "" "no" "Turkey" "" "0" "" "" "" "" "00150114" "" "" "" "1" "" "02322" "" "" "" "no" "" "" "0" "" "" "" "" "00164208" "" "" "" "1" "" "01829" "{PMID:Mendola 2013:24167460}" "" "" "no" "Belgium" "" "0" "" "" "" "24167460-Fam8" "00164209" "" "" "" "1" "" "01829" "{PMID:Mendola 2013:24167460}" "" "" "no" "Belgium" "" "0" "" "" "" "24167460-Fam1" "00164210" "" "" "" "1" "" "01829" "{PMID:Mendola 2013:24167460}" "" "" "no" "Belgium" "" "0" "" "" "" "24167460-Fam2" "00164211" "" "" "" "1" "" "01829" "{PMID:Mendola 2013:24167460}" "" "" "no" "Belgium" "" "0" "" "" "" "24167460-Fam6" "00164212" "" "" "" "1" "" "01829" "{PMID:Mendola 2013:24167460}" "" "" "no" "Belgium" "" "0" "" "" "" "24167460-Pat1" "00164213" "" "" "" "1" "" "01829" "{PMID:Mendola 2013:24167460}" "" "" "no" "Belgium" "" "0" "" "" "" "24167460-Fam5" "00164214" "" "" "" "1" "" "01829" "{PMID:Mendola 2013:24167460}" "" "" "no" "Belgium" "" "0" "" "" "" "24167460-Pat3" "00164215" "" "" "" "1" "" "01829" "{PMID:Mendola 2013:24167460}" "" "" "no" "Belgium" "" "0" "" "" "" "24167460-Fam13" "00164216" "" "" "" "1" "" "01829" "{PMID:Mendola 2013:24167460}" "" "" "no" "Belgium" "" "0" "" "" "" "24167460-Pat6" "00275553" "" "" "" "1" "" "03466" "" "Prenatally detected case with fetal hydrops. Initial diagnosis was bilateral pleural effusions. Fetus developed hydrops (pleural effusions, nuchal edema, skin edema, and ascites) which was treated with in-utero shunts. Mother developed mirror syndrome at 32w0d GA and delivered prematurely. Baby lived approximately 7 hours." "F" "no" "United States" "<00y00m01d" "0" "" "In-utero shunts" "White" "" "00293833" "" "" "" "233" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293834" "" "" "" "102" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305029" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305030" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00327463" "" "" "" "2" "" "03980" "Doucette 2021, Submitted" "Affected sister in a 4 member family. Brother is reportedly affected however we were unable to examine him. Parents are both unaffected, presuming recessive inheritance pattern." "F" "" "Canada" "" "" "Yes" "" "Middle eastern origin" "M69 II-1" "00453782" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV975" "00453794" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV917" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 118 "{{individualid}}" "{{diseaseid}}" "00055186" "01418" "00055187" "01418" "00055188" "01418" "00055189" "01418" "00055190" "01418" "00055191" "01418" "00055192" "01418" "00055193" "01418" "00055194" "01418" "00055195" "01418" "00055196" "01418" "00055197" "01418" "00055198" "01418" "00055199" "01418" "00055200" "01418" "00055201" "01418" "00055202" "01418" "00055203" "01418" "00055204" "01418" "00055205" "01418" "00055206" "01418" "00055207" "01418" "00055208" "01418" "00055209" "01418" "00055210" "01418" "00055211" "01418" "00055212" "01418" "00055213" "01418" "00055214" "01418" "00055215" "01418" "00055216" "01418" "00055217" "01418" "00055218" "01418" "00055219" "01418" "00055220" "01418" "00055221" "01418" "00055222" "01418" "00055223" "01418" "00055768" "01418" "00055769" "01418" "00055770" "01418" "00055771" "01418" "00055772" "01418" "00055773" "01418" "00055774" "01418" "00055775" "01418" "00055776" "01418" "00055777" "01418" "00055778" "01418" "00055779" "01418" "00055780" "01418" "00055781" "01418" "00055782" "01418" "00055783" "01418" "00055784" "01418" "00055785" "01418" "00055786" "01418" "00055787" "01418" "00055788" "01418" "00055789" "01418" "00055790" "01418" "00055791" "01418" "00055792" "01418" "00055793" "01418" "00055794" "01418" "00055795" "01418" "00055796" "01418" "00055797" "01418" "00055798" "01418" "00055799" "01418" "00055800" "01418" "00055801" "01418" "00055802" "01418" "00055803" "01418" "00055804" "01418" "00055805" "01418" "00055806" "01418" "00055807" "01418" "00055808" "01418" "00055809" "01418" "00055810" "01418" "00055811" "01418" "00055812" "01418" "00055813" "01418" "00055814" "01418" "00055815" "01418" "00055816" "01418" "00055817" "01418" "00055818" "01418" "00055819" "01418" "00055820" "01418" "00055821" "01418" "00055822" "01418" "00055823" "01418" "00055968" "01418" "00055969" "01418" "00055970" "01418" "00055971" "01418" "00055974" "01418" "00150113" "01418" "00150114" "02737" "00164208" "05327" "00164209" "05327" "00164210" "05327" "00164211" "05327" "00164212" "05327" "00164213" "05327" "00164214" "05327" "00164215" "05327" "00164216" "05327" "00275553" "01418" "00293833" "00198" "00293834" "00198" "00305029" "00198" "00305030" "00198" "00327463" "04250" "00453782" "00152" "00453794" "00152" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00152, 00198, 01418, 02415, 02737, 04250, 05327, 06685 ## Count = 114 "{{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}}" "0000041841" "01418" "00055186" "00125" "Familial, autosomal dominant" "" "Milroy Disease, first described in Ferrell et al 1998; Early onset lymphoedema, variation in age of onset and in expression in family." "" "" "" "" "" "" "" "" "" "" "" "0000041842" "01418" "00055187" "00125" "Familial, autosomal dominant" "" "Milroy Disease, first described in Ferrell et al 1998; Early onset lymphoedema, variation in age of onset and in expression in family." "" "" "" "" "" "" "" "" "" "" "" "0000041843" "01418" "00055188" "00125" "Familial, autosomal dominant" "" "Milroy Disease, first described in Ferrell et al 1998; Early onset lymphoedema, variation in age of onset and in expression in family." "" "" "" "" "" "" "" "" "" "" "" "0000041844" "01418" "00055189" "00125" "Familial, autosomal dominant" "" "Milroy Disease, first described in Ferrell et al 1998; Early onset lymphoedema, variation in age of onset and in expression in family." "" "" "" "" "" "" "" "" "" "" "" "0000041845" "01418" "00055190" "00125" "Familial, autosomal dominant" "" "Milroy Disease; Bilateral congenital lymphoedema and frequent erysipelas." "0d" "" "" "" "" "" "" "" "" "" "" "0000041846" "01418" "00055191" "00125" "Familial, autosomal dominant" "" "Milroy Disease; Congenital lymphoedema" "" "" "" "" "" "" "" "" "" "" "" "0000041847" "01418" "00055192" "00125" "Familial, autosomal dominant" "" "Milroy Disease, first described in Evans et al 1999; Congenital lymphoedema" "0d" "" "" "" "" "" "" "" "" "" "" "0000041848" "01418" "00055193" "00125" "Familial, autosomal dominant" "" "Milroy Disease, first described in Evans et al 1999; Congenital lymphoedema. Variable expression within family; unilateral/bilateral oedema incl. skin thickening associated with hyperkeratosis and papillomatosis. No evidenc e of edema in hands, face, trunk or sacrum." "0d" "" "" "" "" "" "" "" "" "" "" "0000041849" "01418" "00055194" "00125" "Familial, autosomal dominant" "" "Milroy Disease, first described in Evans et al 1999; Congenital lymphoedema" "0d" "" "" "" "" "" "" "" "" "" "" "0000041850" "01418" "00055195" "00125" "Familial, autosomal dominant" "" "Milroy Disease; Congenital lymphoedema" "0d" "" "" "" "" "" "" "" "" "" "" "0000041851" "01418" "00055196" "00125" "Familial, autosomal dominant" "" "Milroy Disease; Congenital lymphoedema" "0d" "" "" "" "" "" "" "" "" "" "" "0000041852" "01418" "00055197" "00125" "Familial, autosomal dominant" "" "Milroy Disease, first described in Evans et al 1999; Congenital lymphoedema" "0d" "" "" "" "" "" "" "" "" "" "" "0000041853" "01418" "00055198" "00125" "Familial, autosomal dominant" "" "Milroy Disease; Congenital lymphoedema" "0d" "" "" "" "" "" "" "" "" "" "" "0000041854" "01418" "00055199" "00125" "Familial, autosomal dominant" "" "Milroy Disease; Bilateral profound foot edema to ankle level. Upslanting toe nails. In utero prenatal diagnosis of bilateral edema of feet at 15 weeks gestation. Hydrops fetalis, massive bilateral hydrothorax, skin and scal edema and minimal ascites. All resolved spontaneously after birth and at 12 months: only bilateral foot edema." "<0d" "<0d" "" "" "" "" "" "" "" "" "" "0000041855" "01418" "00055200" "00125" "Familial, autosomal dominant" "" "Milroy Disease, first described by Lev-Sagie et al 2003; pregnancy terminated; Bilateral leg oedema. Bilateral pleural effusion at 22wks gestation, pulmonary hypoplasia due to severe bilateral hydrothorax. FH of congenital oedema of legs with variable degree of severity." "<0d" "<0d" "" "" "" "" "" "" "" "" "" "0000041856" "01418" "00055201" "00125" "Isolated (sporadic)" "" "Milroy Disease; Sporadic, bilateral swelling below knees, upturned toe nails, mild hydrocele." "0d" "" "" "" "" "" "" "" "" "" "" "0000041857" "01418" "00055202" "00125" "Familial, autosomal dominant" "" "Milroy Disease; Bilateral elephantiasis with chronic venous ulcerations, cellulitis and papillomatosis. FH of congenital, uni- and bilateral leg oedema." "" "" "" "" "" "" "" "" "" "" "" "0000041858" "01418" "00055203" "00125" "Isolated (sporadic)" "" "Milroy Disease; Bilateral, below kneew lymphoedema. Recurrent cellulitis." "" "" "" "" "" "" "" "" "" "" "" "0000041859" "01418" "00055204" "00125" "Familial, autosomal dominant" "" "Milroy Disease; Bilateral, mild below knee lymphoedema. Hydrocele." "21y" "" "" "" "" "" "" "" "" "" "" "0000041860" "01418" "00055205" "00125" "Familial, autosomal dominant" "" "Milroy Disease; Bilateral, mild below knee lymphoedema." "19y" "" "" "" "" "" "" "" "" "" "" "0000041861" "01418" "00055206" "00125" "Familial, autosomal dominant" "" "Milroy Disease; Bilateral swelling of dorsum of foot from birth. Positive family history." "0d" "0d" "" "" "" "" "" "" "" "" "" "0000041862" "01418" "00055207" "00125" "Familial, autosomal dominant" "" "Milroy Disease; Bilateral swelling of dorsum of foot from birth." "0d" "0d" "" "" "" "" "" "" "" "" "" "0000041863" "01418" "00055208" "00125" "Familial, autosomal dominant" "" "Milroy Disease; Typical Milroy disease with positive family history. Daughter diagnosed in utero with pedal oedema and is mutation positive." "" "" "" "" "" "" "" "" "" "" "" "0000041864" "01418" "00055209" "00125" "Familial, autosomal dominant" "" "Milroy Disease; Typical Milroy disease with positive family history. Father affected." "" "" "" "" "" "" "" "" "" "" "" "0000041865" "01418" "00055210" "00125" "Familial, autosomal dominant" "" "Milroy Disease; Typical Milroy disease with positive family history. Affected daugther." "" "" "" "" "" "" "" "" "" "" "" "0000041866" "01418" "00055211" "00125" "Familial, autosomal dominant" "" "Milroy Disease; Typical Milroy disease with positive family history. Son mutation positive." "" "" "" "" "" "" "" "" "" "" "" "0000041867" "01418" "00055212" "00125" "Familial, autosomal dominant" "" "Milroy Disease; Typical Milroy Disease with positive family history (father and cousin are mutation positive)." "" "" "" "" "" "" "" "" "" "" "" "0000041868" "01418" "00055213" "00125" "Familial, autosomal dominant" "" "Milroy Disease; Typical Milroy disease with positive family history. Son affected." "" "" "" "" "" "" "" "" "" "" "" "0000041869" "01418" "00055214" "00125" "Familial, autosomal dominant" "" "Milroy Disease; Typical Milroy disease with positive family history. Brother mutation positive. Mother is clinically unaffected and mutation positive. Rare polymorphism P1008L found in trans in this family (present in the father)." "" "" "" "" "" "" "" "" "" "" "" "0000041870" "01418" "00055215" "00125" "Familial, autosomal dominant" "" "Milroy Disease; Typical Milroy disease with positive family history. Father and paternal grandmother affected." "" "" "" "" "" "" "" "" "" "" "" "0000041871" "01418" "00055216" "00125" "Familial, autosomal dominant" "" "Milroy Disease; Typical Milroy disease with positive family history. Daugther affected." "" "" "" "" "" "" "" "" "" "" "" "0000041872" "01418" "00055217" "00125" "Familial, autosomal dominant" "" "Milroy Disease; Typical Milroy disease with positive family history. Daugther mutation positive and has learning difficulties." "" "" "" "" "" "" "" "" "" "" "" "0000041873" "01418" "00055218" "00125" "Familial, autosomal dominant" "" "Milroy Disease; Typical Milroy disease with positive family history. Father mutation positive." "" "" "" "" "" "" "" "" "" "" "" "0000041874" "01418" "00055219" "00125" "Isolated (sporadic)" "" "Milroy Disease; Lymphoedema clinically typical of Milroy disease with congenital onset. Glaucoma and learning difficulties. No FH. Connell et al 2009 suggest that htis patient has two separate aetiologies." "" "" "" "" "" "" "" "" "" "" "" "0000041875" "01418" "00055220" "00125" "Familial, autosomal dominant" "" "Milroy Disease; Typical Milroy disease with positive family history. Daugther mutation positive." "" "" "" "" "" "" "" "" "" "" "" "0000041876" "01418" "00055221" "00125" "Familial, autosomal dominant" "" "Milroy Disease; Typical Milroy disease with positive family history. Daugther affected." "" "" "" "" "" "" "" "" "" "" "" "0000041877" "01418" "00055222" "00125" "Familial, autosomal recessive" "" "Milroy Disease; Born with bilateral lower limb lymphoedema, hypoplastic 4th toe on right foot." "0d" "0d" "" "" "" "" "" "" "" "" "" "0000041878" "01418" "00055223" "00125" "Isolated (sporadic)" "" "Milroy Disease; At 24 wk gestation: subcutaneous oedema involving prefrontal, upper lip, upper limbs, and lower limbs. In utero generalized oedema regressed prenatally. At 4 days of age: developed ascites, which resorbed spontaneously on fasting from days 25-36. Oedema limited to lower extremity by 2 months of age. No FH of lymphoedema or hydrops fetalis." "<0d" "<0d" "" "" "" "" "" "" "" "" "" "0000042423" "01418" "00055768" "00034" "Familial, autosomal dominant" "" "Milroy Disease; Congenital lymphoedema" "0d" "" "" "" "" "" "" "" "" "" "" "0000042424" "01418" "00055769" "00034" "Familial, autosomal dominant" "" "Milroy Disease; Typical Milroy disease with positive family history. Father (mutation positive) and two sons are affected." "" "" "" "" "" "" "" "" "" "" "" "0000042425" "01418" "00055770" "00034" "Familial, autosomal dominant" "" "Milroy Disease; Feet and lower extremeties bilaterally swollen. No other parts of the body affected." "0d" "0d" "" "" "" "" "" "" "" "" "" "0000042426" "01418" "00055771" "00034" "Familial, autosomal dominant" "" "Milroy Disease, half-sister, mutation positive. First seen at 11yr of age: bilateral lymphoedema of lower limbs and feet. Varicose veins. Venous ultrasound imaging revealed insufficiency of sapheno-femoral junction and greater saphenous vein.; First seen at 2 yr of age: unilateral lymphoedema of left lower limb and foot." "" "2y" "" "" "" "" "" "" "" "" "" "0000042427" "01418" "00055772" "00034" "Familial, autosomal dominant" "" "Milroy Disease; Typical Milroy disease with positive family history. Daugther affected (diagnosed in utero)." "" "" "" "" "" "" "" "" "" "" "" "0000042428" "01418" "00055773" "00034" "Familial, autosomal dominant" "" "Milroy Disease; Typical Milroy disease with positive family history. Father affected." "" "" "" "" "" "" "" "" "" "" "" "0000042429" "01418" "00055774" "00034" "Familial, autosomal dominant" "" "Milroy Disease; Bilateral, to knee level mild oedema. Upslanting toe nails." "0d" "" "" "" "" "" "" "" "" "" "" "0000042430" "01418" "00055775" "00034" "Isolated (sporadic)" "" "Milroy Disease, first described in Carver et al 2007; Bilateral, below knee lymphoedema. Upturned toenails, large calibre vein. Right leg more swollen than left. No FH" "0d" "21m" "" "" "" "" "" "" "" "" "" "0000042431" "01418" "00055776" "00034" "Isolated (sporadic)" "" "Milroy Disease, first described in Carver et al 2007; Left leg below knee lymphoedema from birth, right leg noted later. No FH. Grandmother with varicose veins." "0d" "21m" "" "" "" "" "" "" "" "" "" "0000042432" "01418" "00055777" "00034" "Familial, autosomal dominant" "" "Milroy Disease; Typical Milroy disease with positive family history. Affected son." "" "" "" "" "" "" "" "" "" "" "" "0000042433" "01418" "00055778" "00034" "Familial, autosomal dominant" "" "Milroy Disease; Bilateral oedema below knees most prominently below ankles. FH of congenital lower limb oedema. Oedema in father of patient spontaneously and permanently resorbed." "0d" "" "" "" "" "" "" "" "" "" "" "0000042434" "01418" "00055779" "00034" "Familial, autosomal dominant" "" "Milroy Disease; Typical Milroy disease with positive family history. Sister, mother and grandmother affected. Resolution of oedema at 2 months in sister." "" "" "" "" "" "" "" "" "" "" "" "0000042435" "01418" "00055780" "00034" "Isolated (sporadic)" "" "Milroy Disease; At 14wk gestation: hydrops fetalis with chylous ascites, lower limb oedema, thickening of subcutaneous folds. At 32wk the ascites had disappeared and oedema limited to lower limbs. After birth: bilateral below knee lymphoedema. No FH of hydrops fetalis nor lymphoedema" "<0d" "<0d" "" "" "" "" "" "" "" "" "" "0000042436" "01418" "00055781" "00034" "Familial, autosomal dominant" "" "Milroy Disease, first described in Evans et al 1999; Congenital lymphoedema" "0d" "" "" "" "" "" "" "" "" "" "" "0000042437" "01418" "00055782" "00034" "Familial, autosomal dominant" "" "Milroy Disease; Congenital right foot lymphoedema. Left foot swelling developed within two years. Upslanting toenails and prominent large calibre veins present. FHx: mother and maternal grandmother had childhood onset congenital lymphoedema of the feet. 2 affected sisters (one has a son with a hydrocele). Patients son also has a hydrocele." "0d" "" "" "" "" "" "" "" "" "" "" "0000042438" "01418" "00055783" "00034" "Familial, autosomal dominant" "" "Milroy Disease; Congenital lymphoedema of both feet." "0d" "" "" "" "" "" "" "" "" "" "" "0000042439" "01418" "00055784" "00034" "Familial, autosomal dominant" "" "Milroy Disease; Congenital right foot lymphoedema." "0d" "" "" "" "" "" "" "" "" "" "" "0000042440" "01418" "00055785" "00034" "Familial, autosomal dominant" "" "Milroy Disease; Congenital lymphoedema of both feet." "0d" "" "" "" "" "" "" "" "" "" "" "0000042441" "01418" "00055786" "00034" "Familial, autosomal dominant" "" "Milroy Disease; Bilateral lymphoedema of both feet since childhood." "" "" "" "" "" "" "" "" "" "" "" "0000042442" "01418" "00055787" "00034" "Unknown" "" "Milroy Disease; The patient has had two miscarriages with severely hydropic foetuses. Third pregnancy with pleural effusions which resolved." "" "" "" "" "" "" "" "" "" "" "" "0000042443" "01418" "00055788" "00034" "Familial, autosomal dominant" "" "Milroy Disease; Congenital lymphoedema of both feet, right worse than left. Prominent vein left foot. Epicanthic folds." "0d" "" "" "" "" "" "" "" "" "" "" "0000042444" "01418" "00055789" "00034" "Familial, autosomal dominant" "" "Milroy Disease; congenital lymphoedema of right foot." "0d" "" "" "" "" "" "" "" "" "" "" "0000042445" "01418" "00055790" "00034" "Familial, autosomal dominant" "" "Milroy Disease; Identical twins with congenital lymphoedema of both feet and ankles. Upslanting toenails and large calibre veins. Epicanthic folds." "0d" "" "" "" "" "" "" "" "" "" "" "0000042446" "01418" "00055791" "00034" "Unknown" "" "Milroy Disease" "" "" "" "" "" "" "" "" "" "" "" "0000042447" "01418" "00055792" "00034" "Unknown" "" "Milroy Disease" "0d" "" "" "" "" "" "" "" "" "" "" "0000042448" "01418" "00055793" "00034" "Familial, autosomal dominant" "" "Milroy Disease; congenital lymphoedema of both feet, right worse than the left. Upslanting toenails and large calibre veins. Lymphoscintigraphy showed typical findings of functional aplasia of lymphatics in right leg, but normal main lymph tracts were seen in left leg." "0d" "" "" "" "" "" "" "" "" "" "" "0000042449" "01418" "00055794" "00034" "Familial, autosomal dominant" "" "Milroy Disease; congenital bilateral lower limb lymphoedema up to the mid-calf. Bilateral large calibre veins. Warts on dorsum of both feet. Bilateral hydrocoeles, left worse than right." "0d" "" "" "" "" "" "" "" "" "" "" "0000042450" "01418" "00055795" "00034" "Familial, autosomal dominant" "" "Milroy Disease; Generalised congenital swelling when born prematurely at 32 weeks gestation. The generalised swelling rapidly resolved but he has residual lymphoedema of both feet. Family history: father has hydrocoele but no lymphoedema (has VEGFR3 mutation), cousin has congenital lymphoedema of one foot." "<0d" "" "" "" "" "" "" "" "" "" "" "0000042451" "01418" "00055796" "00034" "Familial, autosomal dominant" "" "Milroy Disease; Congenital lymphoedema of both feet. By the age of 30 years he developed moderate lymphoedema up to the knees, left worse than the right. Upslanting toenails and large calibre veins." "0d" "" "" "" "" "" "" "" "" "" "" "0000042452" "01418" "00055797" "00034" "Familial, autosomal dominant" "" "Milroy Disease; Congenital lymphoedema of both feet.Upslanting toenails and large calibre veins." "0d" "" "" "" "" "" "" "" "" "" "" "0000042453" "01418" "00055798" "00034" "Familial, autosomal dominant" "" "Milroy Disease; Congenital lymphoedema of both feet. Upslanting toenails." "0d" "" "" "" "" "" "" "" "" "" "" "0000042454" "01418" "00055799" "00034" "Unknown" "" "Milroy Disease" "" "" "" "" "" "" "" "" "" "" "" "0000042455" "01418" "00055800" "00034" "Unknown" "" "Milroy Disease" "" "" "" "" "" "" "" "" "" "" "" "0000042456" "01418" "00055801" "00034" "Unknown" "" "Milroy Disease" "0d" "" "" "" "" "" "" "" "" "" "" "0000042457" "01418" "00055802" "00034" "Familial, autosomal dominant" "" "Milroy Disease; Congenital lymphoedema of both feet. Swelling progressed up to both knees within two years. Upslanting toenails and large calibre veins." "0d" "" "" "" "" "" "" "" "" "" "" "0000042458" "01418" "00055803" "00034" "Isolated (sporadic)" "" "Milroy Disease; Mild congenital lymphoedema of both feet, right affected more than the left. Prominent large calibre veins present." "0d" "" "" "" "" "" "" "" "" "" "" "0000042459" "01418" "00055804" "00034" "Isolated (sporadic)" "" "Milroy Disease; Congenital lymphoedema of both feet and hydrocoele (which spontaneously resolved). Right foot more swollen than left. Upslanting toenails and large calibre veins." "0d" "10m" "" "" "" "" "" "" "" "" "" "0000042460" "01418" "00055805" "00034" "Familial, autosomal dominant" "" "Milroy Disease; Congenital lymphoedema of both feet with upslanting toenails." "0d" "8m" "" "" "" "" "" "" "" "" "" "0000042461" "01418" "00055806" "00034" "Familial, autosomal dominant" "" "Milroy Disease" "" "" "" "" "" "" "" "" "" "" "" "0000042462" "01418" "00055807" "00034" "Unknown" "" "Milroy Disease" "" "" "" "" "" "" "" "" "" "" "" "0000042463" "01418" "00055808" "00034" "Familial, autosomal dominant" "" "Milroy Disease" "" "" "" "" "" "" "" "" "" "" "" "0000042464" "01418" "00055809" "00034" "Familial, autosomal dominant" "" "Milroy Disease" "" "" "" "" "" "" "" "" "" "" "" "0000042465" "01418" "00055810" "00034" "Familial, autosomal dominant" "" "Milroy Disease" "" "" "" "" "" "" "" "" "" "" "" "0000042466" "01418" "00055811" "00034" "Familial, autosomal dominant" "" "Milroy Disease; congenital bilateral lower limb lymphoedema up to the knees, with upslanting toenails and large calibre veins." "0d" "4m" "" "" "" "" "" "" "" "" "" "0000042467" "01418" "00055812" "00034" "Familial" "" "Milroy Disease; Congenital lymphoedema of both feet and ankles. Upslanting toenails and large calibre veins." "0d" "1y" "" "" "" "" "" "" "" "" "" "0000042468" "01418" "00055813" "00034" "Familial, autosomal dominant" "" "Milroy Disease; Congenital lower limb lymphoedema, learning difficulties and behavioural problems." "" "" "" "" "" "" "" "" "" "" "" "0000042469" "01418" "00055814" "00034" "Familial, autosomal dominant" "" "Milroy Disease" "" "" "" "" "" "" "" "" "" "" "" "0000042470" "01418" "00055815" "00034" "Familial, autosomal dominant" "" "Milroy Disease; Congenital lymphoedema of both feet. Large calibre veins present. Two episodes of cellulitis. Lymphoscintigraphy showed atypical findings of reflux of lymph within main tracts of both lower limbs." "0d" "41y" "" "" "" "" "" "" "" "" "" "0000042471" "01418" "00055816" "00034" "Isolated (sporadic)" "" "Milroy Disease; Congenital bilateral lower limb lymphoedema up to the knees. Persistent plantar warts." "0d" "0d" "" "" "" "" "" "" "" "" "" "0000042472" "01418" "00055817" "00034" "Familial, autosomal dominant" "" "Milroy Disease; Congenital bilateral lymphoedema of the feet. One episode of cellulitis. Family history: father had bilateral lymphoedema of the feet." "0d" "0d" "" "" "" "" "" "" "" "" "" "0000042473" "01418" "00055818" "00034" "Familial, autosomal dominant" "" "Milroy Disease; Congenital lymphoedema of both feet. Upslanting toenails. Two episodes of cellulitis." "0d" "0d" "" "" "" "" "" "" "" "" "" "0000042474" "01418" "00055819" "00034" "Isolated (sporadic)" "" "Milroy Disease; Congenital left foot lymphoedema. Patient also has bilateral duplex kidneys." "0d" "5m" "" "" "" "" "" "" "" "" "" "0000042475" "01418" "00055820" "00034" "Familial, autosomal dominant" "" "Milroy Disease" "" "" "" "" "" "" "" "" "" "" "" "0000042476" "01418" "00055821" "00034" "Familial, autosomal dominant" "" "Milroy Disease; Congenital swelling of right foot. Swelling progressed over next 4 months up to the mid-calf. Upslanting toenails and large calibre veins of right leg. Very mild swelling of left foot with upslanting toenails." "0d" "0d" "" "" "" "" "" "" "" "" "" "0000042477" "01418" "00055822" "00034" "Familial, autosomal dominant" "" "Milroy Disease" "0d" "3m" "" "" "" "" "" "" "" "" "" "0000042478" "01418" "00055823" "00034" "Isolated (sporadic)" "" "Milroy Disease; ongenital bilateral lymphoedema of feet and ankles. Upslanting toenails and large calibre veins / prominent long saphenous veins. Mild epicanthic folds." "<0d" "0d" "" "" "" "" "" "" "" "" "" "0000042623" "01418" "00055968" "00034" "Familial" "" "Milroy Disease" "" "" "" "" "" "" "" "" "" "" "" "0000042624" "01418" "00055969" "00034" "Familial" "" "Milroy Disease" "" "" "" "" "" "" "" "" "" "" "" "0000042625" "01418" "00055970" "00034" "Familial" "" "Milroy Disease" "" "" "" "" "" "" "" "" "" "" "" "0000042626" "01418" "00055971" "00034" "Familial" "" "Milroy Disease" "" "" "" "" "" "" "" "" "" "" "" "0000042629" "01418" "00055974" "00034" "Isolated (sporadic)" "" "Milroy Disease" "" "" "" "" "" "" "" "" "" "" "" "0000122515" "01418" "00150113" "02322" "Unknown" "" "OHSS" "" "" "" "" "" "" "" "" "" "" "" "0000122526" "02737" "00150114" "02322" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000129318" "05327" "00164208" "01829" "Familial" "" "" "" "" "" "" "" "" "" "" "LMPH-1A" "lymphedema" "" "0000129319" "05327" "00164209" "01829" "Familial" "" "" "" "" "" "" "" "" "" "" "LMPH-1A" "lymphedema" "" "0000129320" "05327" "00164210" "01829" "Familial" "" "" "" "" "" "" "" "" "" "" "LMPH-1A" "lymphedema" "" "0000129321" "05327" "00164211" "01829" "Familial" "" "" "" "" "" "" "" "" "" "" "LMPH-1A" "lymphedema" "" "0000129322" "05327" "00164212" "01829" "Familial" "" "" "" "" "" "" "" "" "" "" "LMPH-1A" "lymphedema" "" "0000129323" "05327" "00164213" "01829" "Familial" "" "" "" "" "" "" "" "" "" "" "LMPH-1A" "lymphedema" "" "0000129324" "05327" "00164214" "01829" "Unknown" "" "" "" "" "" "" "" "" "" "" "LMPH-1A" "lymphedema" "" "0000129325" "05327" "00164215" "01829" "Familial" "" "" "" "" "" "" "" "" "" "" "LMPH-1A" "lymphedema" "" "0000129326" "05327" "00164216" "01829" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "LMPH-1A" "lymphedema" "" "0000210170" "01418" "00275553" "03466" "Isolated (sporadic)" "" "pleural effusion (HP:0002202); hydrops fetalis (HP:0001789); severe hydrops fetalis (HP:0005099); nonimmune hydrops fetalis (HP:0001790); fetal ascites (HP:0001791); edema (HP:0000969)" "" "" "Pleural effusion (HP:0002202)" "" "" "" "" "" "Fetal hydrops" "Bilateral pleural effusions" "" "0000245752" "05412" "00327463" "03980" "Familial, autosomal recessive" "29y" "Fundus findings: Circumscribed central retinal atrophy (Retinal atrophy HP:0001105)\r\n\r\nOcular coherence tomography (OCT): Atrophy of outer retina. Bruch\'s membrane is absent in the central fovea.\r\n\r\nElectroretinogram: Normal ffERG in the right eye; reduced cone flash and flicker in the left eye (Abnormal ERG HP:0000512)" "" "" "" "" "" "" "" "" "" "Retinopathy" "" "0000342439" "00152" "00453782" "00006" "Unknown" "" "aortic valve replacement, ascending aortic replacement; large ascending aneurysm" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000342451" "00152" "00453794" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" ## Screenings ## Do not remove or alter this header ## ## Count = 118 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000055139" "00055186" "1" "00125" "00125" "2011-10-21 19:42:08" "00034" "2012-07-13 13:19:30" "SEQ" "DNA" "" "" "0000055140" "00055187" "1" "00125" "00125" "2011-10-21 19:42:08" "00125" "2011-10-23 21:37:28" "SEQ" "DNA" "" "" "0000055141" "00055188" "1" "00125" "00125" "2011-10-21 19:42:08" "00125" "2011-10-23 22:43:23" "SEQ" "DNA" "" "" "0000055142" "00055189" "1" "00125" "00125" "2011-10-21 19:42:08" "00125" "2011-10-23 22:47:06" "SEQ" "DNA" "" "" "0000055143" "00055190" "1" "00125" "00125" "2011-10-21 19:42:08" "00125" "2011-10-23 22:27:55" "SEQ" "DNA" "" "" "0000055144" "00055191" "1" "00125" "00125" "2011-10-21 19:42:08" "00034" "2012-07-13 15:11:47" "SEQ" "DNA" "" "" "0000055145" "00055192" "1" "00125" "00125" "2011-10-21 19:42:08" "00125" "2011-10-23 21:45:52" "SEQ" "DNA" "" "" "0000055146" "00055193" "1" "00125" "00125" "2011-10-21 19:42:08" "00125" "2011-10-23 21:48:45" "SEQ" "DNA" "" "" "0000055147" "00055194" "1" "00125" "00125" "2011-10-21 19:42:08" "00034" "2012-07-13 15:28:23" "SEQ" "DNA" "" "" "0000055148" "00055195" "1" "00125" "00125" "2011-10-21 19:42:08" "00125" "2011-10-23 22:38:57" "SEQ" "DNA" "" "" "0000055149" "00055196" "1" "00125" "00125" "2011-10-21 19:42:08" "00125" "2011-10-23 22:40:52" "SEQ" "DNA" "" "" "0000055150" "00055197" "1" "00125" "00125" "2011-10-21 19:42:08" "00125" "2011-10-23 23:09:37" "SEQ" "DNA" "" "" "0000055151" "00055198" "1" "00125" "00125" "2011-10-21 19:42:08" "00125" "2011-10-23 23:21:22" "SEQ" "DNA" "" "" "0000055152" "00055199" "1" "00125" "00125" "2011-10-21 19:42:08" "00125" "2011-10-23 23:05:23" "SEQ" "DNA" "" "" "0000055153" "00055200" "1" "00125" "00125" "2011-10-21 19:42:08" "00125" "2011-10-23 21:38:23" "SEQ" "DNA" "" "" "0000055154" "00055201" "1" "00125" "00125" "2011-10-21 19:42:08" "00125" "2011-10-23 22:31:39" "SEQ" "DNA" "" "" "0000055155" "00055202" "1" "00125" "00125" "2011-10-21 19:42:08" "00125" "2011-10-23 23:01:46" "SEQ" "DNA" "" "" "0000055156" "00055203" "1" "00125" "00125" "2011-10-21 19:42:08" "00034" "2012-07-13 14:55:10" "SEQ" "DNA" "" "" "0000055157" "00055204" "1" "00125" "00125" "2011-10-21 19:42:08" "00125" "2011-10-23 21:59:57" "SEQ" "DNA" "" "" "0000055158" "00055205" "1" "00125" "00125" "2011-10-21 19:42:08" "00125" "2011-10-23 22:59:14" "SEQ" "DNA" "" "" "0000055159" "00055206" "1" "00125" "00125" "2011-10-21 19:42:08" "00034" "2012-07-12 15:04:32" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000055160" "00055207" "1" "00125" "00125" "2011-10-21 19:42:08" "00125" "2011-10-23 21:37:58" "SEQ" "DNA" "" "" "0000055161" "00055208" "1" "00125" "00125" "2011-10-21 19:42:08" "00125" "2011-10-23 21:33:32" "SEQ" "DNA" "" "" "0000055162" "00055209" "1" "00125" "00125" "2011-10-21 19:42:08" "00125" "2011-10-23 21:34:23" "SEQ" "DNA" "" "" "0000055163" "00055210" "1" "00125" "00125" "2011-10-21 19:42:08" "00125" "2011-10-23 21:35:04" "SEQ" "DNA" "" "" "0000055164" "00055211" "1" "00125" "00125" "2011-10-21 19:42:08" "00125" "2011-10-23 21:36:05" "SEQ" "DNA" "" "" "0000055165" "00055212" "1" "00125" "00125" "2011-10-21 19:42:08" "00125" "2011-10-23 21:56:27" "SEQ" "DNA" "" "" "0000055166" "00055213" "1" "00125" "00125" "2011-10-21 19:42:08" "00125" "2011-10-23 22:03:37" "SEQ" "DNA" "" "" "0000055167" "00055214" "1" "00125" "00125" "2011-10-21 19:42:08" "00034" "2012-07-13 15:36:46" "SEQ" "DNA" "" "" "0000055168" "00055215" "1" "00125" "00125" "2011-10-21 19:42:08" "00125" "2011-10-23 22:35:46" "SEQ" "DNA" "" "" "0000055169" "00055216" "1" "00125" "00125" "2011-10-21 19:42:08" "00125" "2011-10-23 22:37:17" "SEQ" "DNA" "" "" "0000055170" "00055217" "1" "00125" "00125" "2011-10-21 19:42:08" "00125" "2011-10-23 22:45:40" "SEQ" "DNA" "" "" "0000055171" "00055218" "1" "00125" "00125" "2011-10-21 19:42:08" "00125" "2011-10-23 22:48:44" "SEQ" "DNA" "" "" "0000055172" "00055219" "1" "00125" "00125" "2011-10-21 19:42:08" "00125" "2011-10-23 22:54:09" "SEQ" "DNA" "" "" "0000055173" "00055220" "1" "00125" "00125" "2011-10-21 19:42:08" "00125" "2011-10-23 23:18:07" "SEQ" "DNA" "" "" "0000055174" "00055221" "1" "00125" "00125" "2011-10-21 19:42:08" "00125" "2011-10-23 23:19:36" "SEQ" "DNA" "" "" "0000055175" "00055222" "1" "00125" "00125" "2011-10-21 19:42:08" "00034" "2012-07-13 14:52:17" "SEQ" "DNA" "" "" "0000055176" "00055223" "1" "00125" "00125" "2011-10-21 19:42:08" "00125" "2011-10-23 21:40:12" "SEQ" "DNA" "" "" "0000055721" "00055768" "1" "00034" "00034" "2012-07-13 15:09:01" "00034" "2012-07-13 15:13:38" "SEQ" "DNA" "" "" "0000055722" "00055769" "1" "00034" "00034" "2012-07-13 15:18:22" "00034" "2012-07-13 15:22:37" "SEQ" "DNA" "" "" "0000055723" "00055770" "1" "00034" "00034" "2012-07-13 15:22:08" "00034" "2012-07-13 15:22:37" "SEQ" "DNA" "" "" "0000055724" "00055771" "1" "00034" "00034" "2012-07-13 15:27:53" "00034" "2012-07-13 16:30:54" "SEQ" "DNA" "" "" "0000055725" "00055772" "1" "00034" "00034" "2012-07-13 15:32:59" "" "" "SEQ" "DNA" "" "" "0000055726" "00055773" "1" "00034" "00034" "2012-07-13 15:36:10" "" "" "SEQ" "DNA" "" "" "0000055727" "00055774" "1" "00034" "00034" "2012-07-13 15:43:57" "" "" "SEQ" "DNA" "" "" "0000055728" "00055775" "1" "00034" "00034" "2012-07-13 15:50:08" "" "" "SEQ" "DNA" "" "" "0000055729" "00055776" "1" "00034" "00034" "2012-07-13 15:54:45" "" "" "SEQ" "DNA" "" "" "0000055730" "00055777" "1" "00034" "00034" "2012-07-13 15:56:50" "00034" "2012-07-13 15:57:14" "SEQ" "DNA" "" "" "0000055731" "00055778" "1" "00034" "00034" "2012-07-13 16:01:16" "00034" "2012-07-13 16:03:57" "SEQ" "DNA" "" "" "0000055732" "00055779" "1" "00034" "00034" "2012-07-13 16:03:06" "00034" "2012-07-13 16:03:57" "SEQ" "DNA" "" "" "0000055733" "00055780" "1" "00034" "00034" "2012-07-13 16:08:38" "00034" "2012-07-13 16:10:10" "SEQ" "DNA" "" "" "0000055734" "00055781" "1" "00034" "00034" "2012-07-13 16:17:39" "" "" "SEQ" "DNA" "" "" "0000055735" "00055782" "1" "00034" "00034" "2012-09-13 09:42:58" "00034" "2012-09-13 09:51:05" "SEQ" "DNA" "" "" "0000055736" "00055783" "1" "00034" "00034" "2012-09-13 10:04:31" "00034" "2012-09-13 10:16:48" "SEQ" "DNA" "" "" "0000055737" "00055784" "1" "00034" "00034" "2012-09-13 10:11:21" "00034" "2012-09-13 10:16:48" "SEQ" "DNA" "" "" "0000055738" "00055785" "1" "00034" "00034" "2012-09-13 10:14:58" "00034" "2012-09-13 10:16:48" "SEQ" "DNA" "" "" "0000055739" "00055786" "1" "00034" "00034" "2012-09-13 10:30:00" "00034" "2012-09-13 11:46:43" "SEQ" "DNA" "" "" "0000055740" "00055787" "1" "00034" "00034" "2012-09-13 10:39:10" "00034" "2012-09-13 11:46:43" "SEQ" "DNA" "" "" "0000055741" "00055788" "1" "00034" "00034" "2012-09-13 10:48:13" "00034" "2012-09-13 11:46:43" "SEQ" "DNA" "" "" "0000055742" "00055789" "1" "00034" "00034" "2012-09-13 10:52:21" "00034" "2012-09-13 11:46:43" "SEQ" "DNA" "" "" "0000055743" "00055790" "1" "00034" "00034" "2012-09-13 10:54:43" "00034" "2012-09-13 11:46:43" "SEQ" "DNA" "" "" "0000055744" "00055791" "1" "00034" "00034" "2012-09-13 11:01:36" "00034" "2012-09-13 11:46:43" "SEQ" "DNA" "" "" "0000055745" "00055792" "1" "00034" "00034" "2012-09-13 11:07:22" "00034" "2012-09-13 11:46:43" "SEQ" "DNA" "" "" "0000055746" "00055793" "1" "00034" "00034" "2012-09-13 11:18:05" "00034" "2012-09-13 11:46:43" "SEQ" "DNA" "" "" "0000055747" "00055794" "1" "00034" "00034" "2012-09-13 11:21:13" "00034" "2012-09-13 11:46:43" "SEQ" "DNA" "" "" "0000055748" "00055795" "1" "00034" "00034" "2012-09-13 11:33:02" "00034" "2012-09-13 11:46:43" "SEQ" "DNA" "" "" "0000055749" "00055796" "1" "00034" "00034" "2012-09-13 11:34:50" "00034" "2012-09-13 11:46:43" "SEQ" "DNA" "" "" "0000055750" "00055797" "1" "00034" "00034" "2012-09-13 11:37:01" "00034" "2012-09-13 11:46:43" "SEQ" "DNA" "" "" "0000055751" "00055798" "1" "00034" "00034" "2012-09-13 11:41:51" "00034" "2012-09-13 11:46:43" "SEQ" "DNA" "" "" "0000055752" "00055799" "1" "00034" "00034" "2012-09-13 11:44:08" "00034" "2012-09-13 11:46:43" "SEQ" "DNA" "" "" "0000055753" "00055800" "1" "00034" "00034" "2012-09-13 11:45:30" "00034" "2012-09-13 11:46:43" "SEQ" "DNA" "" "" "0000055754" "00055801" "1" "00034" "00034" "2012-09-14 17:24:42" "00034" "2012-09-14 17:55:25" "SEQ" "DNA" "" "" "0000055755" "00055802" "1" "00034" "00034" "2012-09-14 17:30:55" "00034" "2012-09-14 17:55:25" "SEQ" "DNA" "" "" "0000055756" "00055803" "1" "00034" "00034" "2012-09-14 17:34:19" "00034" "2012-09-14 17:55:25" "SEQ" "DNA" "" "" "0000055757" "00055804" "1" "00034" "00034" "2012-09-14 17:37:17" "00034" "2012-09-14 17:55:25" "SEQ" "DNA" "" "" "0000055758" "00055805" "1" "00034" "00034" "2012-09-14 17:40:49" "00034" "2012-09-14 17:55:25" "SEQ" "DNA" "" "" "0000055759" "00055806" "1" "00034" "00034" "2012-09-14 17:43:05" "00034" "2012-09-14 17:55:25" "SEQ" "DNA" "" "" "0000055760" "00055807" "1" "00034" "00034" "2012-09-14 17:45:09" "00034" "2012-09-14 17:55:25" "SEQ" "DNA" "" "" "0000055761" "00055808" "1" "00034" "00034" "2012-09-14 17:47:58" "00034" "2012-09-14 17:55:25" "SEQ" "DNA" "" "" "0000055762" "00055809" "1" "00034" "00034" "2012-09-14 17:50:18" "00034" "2012-09-14 17:55:25" "SEQ" "DNA" "" "" "0000055763" "00055810" "1" "00034" "00034" "2012-09-14 17:52:39" "00034" "2012-09-14 17:55:25" "SEQ" "DNA" "" "" "0000055764" "00055811" "1" "00034" "00034" "2012-09-14 17:54:59" "00034" "2012-09-14 17:55:25" "SEQ" "DNA" "" "" "0000055765" "00055812" "1" "00034" "00034" "2012-09-14 18:01:13" "00034" "2012-09-14 18:18:08" "SEQ" "DNA" "" "" "0000055766" "00055813" "1" "00034" "00034" "2012-09-14 18:03:32" "00034" "2012-09-14 18:18:08" "SEQ" "DNA" "" "" "0000055767" "00055814" "1" "00034" "00034" "2012-09-14 18:06:28" "00034" "2012-09-14 18:18:08" "SEQ" "DNA" "" "" "0000055768" "00055815" "1" "00034" "00034" "2012-09-14 18:08:58" "00034" "2012-09-14 18:18:08" "SEQ" "DNA" "" "" "0000055769" "00055816" "1" "00034" "00034" "2012-09-14 18:11:39" "00034" "2012-09-14 18:18:08" "SEQ" "DNA" "" "" "0000055770" "00055817" "1" "00034" "00034" "2012-09-14 18:14:38" "00034" "2012-09-14 18:18:08" "SEQ" "DNA" "" "" "0000055771" "00055818" "1" "00034" "00034" "2012-09-14 18:17:49" "00034" "2012-09-14 18:18:08" "SEQ" "DNA" "" "" "0000055772" "00055819" "1" "00034" "00034" "2012-09-14 18:21:10" "00034" "2012-09-14 18:32:40" "SEQ" "DNA" "" "" "0000055773" "00055820" "1" "00034" "00034" "2012-09-14 18:23:45" "00034" "2012-09-14 18:32:40" "SEQ" "DNA" "" "" "0000055774" "00055821" "1" "00034" "00034" "2012-09-14 18:26:38" "00034" "2012-09-14 18:32:40" "SEQ" "DNA" "" "" "0000055775" "00055822" "1" "00034" "00034" "2012-09-14 18:28:47" "00034" "2012-09-14 18:32:40" "SEQ" "DNA" "" "" "0000055776" "00055823" "1" "00034" "00034" "2012-09-14 18:31:19" "00034" "2012-09-14 18:32:40" "SEQ" "DNA" "" "" "0000055921" "00055968" "1" "00034" "00034" "2014-12-02 11:34:16" "00034" "2014-12-02 11:56:22" "PCR" "DNA" "" "" "0000055922" "00055969" "1" "00034" "00034" "2014-12-02 11:37:27" "00034" "2014-12-02 11:49:20" "PCR" "DNA" "" "" "0000055923" "00055970" "1" "00034" "00034" "2014-12-02 11:38:55" "00034" "2014-12-02 11:49:56" "PCR" "DNA" "" "" "0000055924" "00055971" "1" "00034" "00034" "2014-12-02 11:42:13" "00034" "2014-12-02 11:49:56" "PCR" "DNA" "" "" "0000055927" "00055974" "1" "00034" "00034" "2014-12-02 12:04:13" "00034" "2014-12-02 12:08:01" "PCR" "DNA" "" "" "0000150968" "00150114" "1" "02322" "02322" "2018-01-11 11:01:28" "" "" "SEQ-NG-I" "DNA" "" "" "0000150969" "00150113" "1" "02322" "02322" "2018-01-11 11:07:05" "" "" "SEQ-NG-I" "DNA" "" "" "0000165075" "00164208" "1" "01829" "01829" "2013-04-29 17:08:29" "" "" "SEQ" "DNA" "" "" "0000165076" "00164209" "1" "01829" "01829" "2013-04-29 17:08:29" "" "" "SEQ" "DNA" "" "" "0000165077" "00164210" "1" "01829" "01829" "2013-04-29 17:08:29" "" "" "SEQ" "DNA" "" "" "0000165078" "00164211" "1" "01829" "01829" "2013-04-29 17:08:29" "" "" "SEQ" "DNA" "" "" "0000165079" "00164212" "1" "01829" "01829" "2013-04-29 17:08:29" "" "" "SEQ" "DNA" "" "" "0000165080" "00164213" "1" "01829" "01829" "2013-04-29 17:08:29" "" "" "SEQ" "DNA" "" "" "0000165081" "00164214" "1" "01829" "01829" "2013-04-29 17:08:29" "" "" "SEQ" "DNA" "" "" "0000165082" "00164215" "1" "01829" "01829" "2013-04-29 17:08:29" "" "" "SEQ" "DNA" "" "" "0000165083" "00164216" "1" "01829" "01829" "2013-04-29 17:08:29" "" "" "SEQ" "DNA" "" "" "0000276712" "00275553" "1" "03466" "03466" "2020-01-07 21:59:31" "" "" "arraySNP;SEQ;SEQ-NG-I" "DNA" "Amniotic fluid" "Whole exome sequencing (prenatal trio)" "0000295001" "00293833" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295002" "00293834" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306158" "00305029" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306159" "00305030" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000328676" "00327463" "1" "03980" "03980" "2021-01-21 22:19:35" "" "" "SEQ-NG" "DNA" "" "WES" "0000455394" "00453782" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455406" "00453794" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 108 "{{screeningid}}" "{{geneid}}" "0000055139" "FLT4" "0000055140" "FLT4" "0000055141" "FLT4" "0000055142" "FLT4" "0000055143" "FLT4" "0000055144" "FLT4" "0000055145" "FLT4" "0000055146" "FLT4" "0000055147" "FLT4" "0000055148" "FLT4" "0000055149" "FLT4" "0000055150" "FLT4" "0000055151" "FLT4" "0000055152" "FLT4" "0000055153" "FLT4" "0000055154" "FLT4" "0000055155" "FLT4" "0000055156" "FLT4" "0000055157" "FLT4" "0000055158" "FLT4" "0000055159" "FLT4" "0000055160" "FLT4" "0000055161" "FLT4" "0000055162" "FLT4" "0000055163" "FLT4" "0000055164" "FLT4" "0000055165" "FLT4" "0000055166" "FLT4" "0000055167" "FLT4" "0000055168" "FLT4" "0000055169" "FLT4" "0000055170" "FLT4" "0000055171" "FLT4" "0000055172" "FLT4" "0000055173" "FLT4" "0000055174" "FLT4" "0000055175" "FLT4" "0000055176" "FLT4" "0000055721" "FLT4" "0000055722" "FLT4" "0000055723" "FLT4" "0000055724" "FLT4" "0000055725" "FLT4" "0000055726" "FLT4" "0000055727" "FLT4" "0000055728" "FLT4" "0000055729" "FLT4" "0000055730" "FLT4" "0000055731" "FLT4" "0000055732" "FLT4" "0000055733" "FLT4" "0000055734" "FLT4" "0000055735" "FLT4" "0000055736" "FLT4" "0000055737" "FLT4" "0000055738" "FLT4" "0000055739" "FLT4" "0000055740" "FLT4" "0000055741" "FLT4" "0000055742" "FLT4" "0000055743" "FLT4" "0000055744" "FLT4" "0000055745" "FLT4" "0000055746" "FLT4" "0000055747" "FLT4" "0000055748" "FLT4" "0000055749" "FLT4" "0000055750" "FLT4" "0000055751" "FLT4" "0000055752" "FLT4" "0000055753" "FLT4" "0000055754" "FLT4" "0000055755" "FLT4" "0000055756" "FLT4" "0000055757" "FLT4" "0000055758" "FLT4" "0000055759" "FLT4" "0000055760" "FLT4" "0000055761" "FLT4" "0000055762" "FLT4" "0000055763" "FLT4" "0000055764" "FLT4" "0000055765" "FLT4" "0000055766" "FLT4" "0000055767" "FLT4" "0000055768" "FLT4" "0000055769" "FLT4" "0000055770" "FLT4" "0000055771" "FLT4" "0000055772" "FLT4" "0000055773" "FLT4" "0000055774" "FLT4" "0000055775" "FLT4" "0000055776" "FLT4" "0000055921" "FLT4" "0000055922" "FLT4" "0000055923" "FLT4" "0000055924" "FLT4" "0000055927" "FLT4" "0000165075" "FLT4" "0000165076" "FLT4" "0000165077" "FLT4" "0000165078" "FLT4" "0000165079" "FLT4" "0000165080" "FLT4" "0000165081" "FLT4" "0000165082" "FLT4" "0000165083" "FLT4" ## 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 = 290 "{{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}}" "0000085160" "1" "90" "5" "180040101" "180040101" "subst" "0" "00125" "FLT4_000001" "g.180040101G>A" "" "{PMID:Ferrell 1998:09817924}, {PMID:Karkkainen 2000:10835628}, {OMIM136352:0001}, {OMIM136352:0005}" "" "c.3360G>A (p.Pro1126Leu)" "" "Germline" "yes" "" "0" "" "" "g.180613101G>A" "" "pathogenic" "" "0000085161" "1" "90" "5" "180046743" "180046743" "subst" "0" "00125" "FLT4_000002" "g.180046743C>T" "" "{PMID:Karkkainen 2000:10835628}, {OMIM136352:0002}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180619743C>T" "" "pathogenic" "" "0000085162" "1" "90" "5" "180043464" "180043464" "subst" "0" "00125" "FLT4_000003" "g.180043464C>G" "" "{PMID:Karkkainen 2000:10835628}, {OMIM136352:0003}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180616464C>G" "" "pathogenic" "" "0000085163" "1" "90" "5" "180043455" "180043455" "subst" "0" "00125" "FLT4_000004" "g.180043455A>G" "" "{PMID:Karkkainen 2000:10835628}, {OMIM136352:0004}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180616455A>G" "" "pathogenic" "" "0000085164" "1" "90" "5" "180043482" "180043482" "subst" "0" "00125" "FLT4_000005" "g.180043482T>C" "" "{PMID:Irrthum 2000:10856194}, {OMIM136352:0006}" "" "c.3123A>G" "" "Germline" "yes" "" "0" "" "" "g.180616482T>C" "" "pathogenic" "" "0000085165" "1" "90" "5" "180046752" "180046752" "subst" "0" "00125" "FLT4_000006" "g.180046752C>T" "" "{PMID:Evans 2003:12960217}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180619752C>T" "" "pathogenic" "" "0000085166" "1" "90" "5" "180046271" "180046271" "subst" "0" "00125" "FLT4_000007" "g.180046271C>G" "" "{PMID:Evans 2003:12960217}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180619271C>G" "" "pathogenic" "" "0000085167" "1" "90" "5" "180046266" "180046266" "subst" "0" "00125" "FLT4_000008" "g.180046266G>C" "" "{PMID:Evans 2003:12960217}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180619266G>C" "" "pathogenic" "" "0000085168" "1" "90" "5" "180046074" "180046074" "subst" "0" "00125" "FLT4_000009" "g.180046074C>G" "" "{PMID:Evans 2003:12960217}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180619074C>G" "" "pathogenic" "" "0000085169" "1" "90" "5" "180043465" "180043465" "subst" "0" "00125" "FLT4_000010" "g.180043465G>A" "" "{PMID:Evans 2003:12960217}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180616465G>A" "" "pathogenic" "" "0000085170" "1" "90" "5" "180043464" "180043464" "subst" "0" "00125" "FLT4_000011" "g.180043464C>T" "" "{PMID:Evans 2003:12960217}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180616464C>T" "" "pathogenic" "" "0000085171" "1" "90" "5" "180041077" "180041079" "del" "0" "00125" "FLT4_000012" "g.180041077_180041079del" "" "{PMID:Evans 2003:12960217}, {OMIM136352:0011}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180614077_180614079del" "" "pathogenic" "" "0000085172" "1" "90" "5" "180040032" "180040032" "subst" "0" "00125" "FLT4_000013" "g.180040032G>A" "" "{PMID:Evans 2003:12960217}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180613032G>A" "" "pathogenic" "" "0000085173" "1" "90" "5" "180041083" "180041083" "subst" "0" "00125" "FLT4_000014" "g.180041083C>T" "" "{PMID:Spiegel 2005:16231305}, {OMIM136352:0010}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180614083C>T" "" "pathogenic" "" "0000085174" "1" "90" "5" "180046680" "180046680" "subst" "0" "00125" "FLT4_000015" "g.180046680C>T" "" "{PMID:Ghalamkarpour 2006:16965327}, {OMIM136352:0008}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180619680C>T" "" "pathogenic" "" "0000085175" "1" "90" "5" "180043481" "180043481" "subst" "0" "00125" "FLT4_000016" "g.180043481G>C" "" "{PMID:Ghalamkarpour 2006:16965327}" "" "" "de novo, in patient" "De novo" "" "" "0" "" "" "g.180616481G>C" "" "pathogenic" "" "0000085176" "1" "90" "5" "180041142" "180041142" "subst" "0" "00125" "FLT4_000017" "g.180041142A>G" "" "{PMID:Ghalamkarpour 2006:16965327}, {OMIM136352:0009}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180614142A>G" "" "pathogenic" "" "0000085177" "1" "90" "5" "180046275" "180046277" "del" "0" "00125" "FLT4_000018" "g.180046275_180046277del" "" "{PMID:Carver 2007:17250670}" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "g.180619275_180619277delAGG" "" "pathogenic" "" "0000085178" "1" "90" "5" "180043937" "180043937" "subst" "0" "00125" "FLT4_000019" "g.180043937T>A" "" "{PMID:Butler 2007:17458866}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180616937T>A" "" "pathogenic" "" "0000085179" "1" "90" "5" "180043422" "180043422" "subst" "0" "00125" "FLT4_000020" "g.180043422T>A" "" "{PMID:Yu 2007:17945164}" "" "c.3183A>T" "" "Germline" "yes" "" "0" "" "" "g.180616422T>A" "" "pathogenic" "" "0000085180" "21" "90" "5" "180047171" "180047171" "del" "0" "00125" "FLT4_000021" "g.180047171del" "" "{PMID:Futatani 2008:18279219}" "" "IVS17+2delT" "invariant sequence of a splice donor site leading to premature termination" "Germline" "yes" "" "0" "" "" "g.180620171del" "" "pathogenic" "" "0000085181" "1" "90" "5" "180046683" "180046683" "subst" "0" "00125" "FLT4_000022" "g.180046683C>T" "" "{PMID:Futatani 2008:18279219}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180619683C>T" "" "pathogenic" "" "0000085182" "1" "90" "5" "180047184" "180047184" "subst" "0" "00125" "FLT4_000023" "g.180047184C>G" "" "{PMID:Connell 2009:19002718}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180620184C>G" "" "pathogenic" "" "0000085183" "11" "90" "5" "180046758" "180046758" "subst" "0" "00125" "FLT4_000024" "g.180046758C>T" "" "{PMID:Connell 2009:19002718}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180619758C>T" "" "pathogenic" "" "0000085184" "1" "90" "5" "180046758" "180046758" "subst" "0" "00125" "FLT4_000025" "g.180046758C>G" "" "{PMID:Connell 2009:19002718}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180619758C>G" "" "pathogenic" "" "0000085185" "1" "90" "5" "180046752" "180046752" "subst" "0" "00125" "FLT4_000026" "g.180046752C>G" "" "{PMID:Connell 2009:19002718}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180619752C>G" "" "pathogenic" "" "0000085186" "1" "90" "5" "180046043" "180046043" "subst" "0" "00125" "FLT4_000027" "g.180046043C>G" "" "{PMID:Connell 2009:19002718}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180619043C>G" "" "pathogenic" "" "0000085187" "1" "90" "5" "180043926" "180043926" "subst" "0" "00125" "FLT4_000028" "g.180043926C>T" "" "{PMID:Connell 2009:19002718}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180616926C>T" "" "pathogenic" "" "0000085188" "1" "90" "5" "180043925" "180043925" "subst" "0" "00125" "FLT4_000029" "g.180043925C>T" "" "{PMID:Connell 2009:19002718}" "" "p.(Gly1024Gln)" "" "Germline" "yes" "" "0" "" "" "g.180616925C>T" "" "pathogenic" "" "0000085189" "1" "90" "5" "180043477" "180043477" "subst" "0" "00125" "FLT4_000030" "g.180043477C>G" "" "{PMID:Connell 2009:19002718}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180616477C>G" "" "pathogenic" "" "0000085190" "1" "90" "5" "180043477" "180043477" "subst" "0" "00125" "FLT4_000031" "g.180043477C>A" "" "{PMID:Connell 2009:19002718}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180616477C>A" "" "pathogenic" "" "0000085191" "1" "90" "5" "180043461" "180043461" "subst" "0" "00125" "FLT4_000032" "g.180043461T>C" "" "{PMID:Connell 2009:19002718}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180616461T>C" "" "pathogenic" "" "0000085192" "1" "90" "5" "180043435" "180043435" "subst" "0" "00125" "FLT4_000033" "g.180043435C>T" "" "{PMID:Connell 2009:19002718}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180616435C>T" "" "pathogenic" "" "0000085193" "1" "90" "5" "180043422" "180043422" "subst" "0" "00125" "FLT4_000034" "g.180043422T>G" "" "{PMID:Connell 2009:19002718}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.180616422T>G" "" "pathogenic" "" "0000085194" "1" "90" "5" "180040098" "180040098" "subst" "0" "00125" "FLT4_000035" "g.180040098T>C" "" "{PMID:Connell 2009:19002718}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180613098T>C" "" "pathogenic" "" "0000085195" "1" "90" "5" "180040051" "180040051" "subst" "0" "00125" "FLT4_000036" "g.180040051C>G" "" "{PMID:Connell 2009:19002718}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180613051C>G" "" "pathogenic" "" "0000085196" "0" "90" "5" "180046749" "180046749" "subst" "4.17115E-6" "00125" "FLT4_000037" "g.180046749C>T" "" "{PMID:Ghalamkarpour 2009:19289394}, {OMIM136352:0012}" "" "" "recessive inheritance. This missense mutation is possibly only causing an effect in the homozygous state." "Germline" "yes" "" "0" "" "" "g.180619749C>T" "" "pathogenic" "" "0000085197" "1" "90" "5" "180046337" "180046337" "subst" "0" "00125" "FLT4_000038" "g.180046337G>C" "" "{PMID:Ghalamkarpour 2009:19394045}" "" "" "de novo, in patient" "De novo" "" "" "0" "" "" "g.180619337G>C" "" "pathogenic" "" "0000085736" "0" "90" "5" "180046752" "180046752" "subst" "0" "00034" "FLT4_000006" "g.180046752C>T" "" "{PMID:Evans 2003:12960217}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180619752C>T" "" "pathogenic" "" "0000085737" "0" "90" "5" "180046743" "180046743" "subst" "0" "00034" "FLT4_000002" "g.180046743C>T" "" "{PMID:Karkkainen 2000:10835628}, {OMIM136352:0002}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180619743C>T" "" "pathogenic" "" "0000085738" "0" "97" "5" "180046743" "180046743" "subst" "0" "00034" "FLT4_000002" "g.180046743C>T" "" "{PMID:Karkkainen 2000:10835628}, {OMIM136352:0002}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180619743C>T" "" "pathogenic" "" "0000085739" "21" "90" "5" "180046074" "180046074" "subst" "0" "00034" "FLT4_000009" "g.180046074C>G" "" "{PMID:Evans 2003:12960217}" "" "" "change is confirmed de novo in mother." "Germline" "yes" "" "0" "" "" "g.180619074C>G" "" "pathogenic" "" "0000085740" "0" "90" "5" "180046074" "180046074" "subst" "0" "00034" "FLT4_000009" "g.180046074C>G" "" "{PMID:Evans 2003:12960217}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180619074C>G" "" "pathogenic" "" "0000085741" "0" "90" "5" "180043925" "180043925" "subst" "0" "00034" "FLT4_000029" "g.180043925C>T" "" "{PMID:Connell 2009:19002718}" "" "p.(Gly1024Gln)" "" "Germline" "yes" "" "0" "" "" "g.180616925C>T" "" "pathogenic" "" "0000085742" "11" "90" "5" "180043477" "180043477" "subst" "0" "00034" "FLT4_000030" "g.180043477C>G" "" "{PMID:Connell 2009:19002718}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180616477C>G" "" "pathogenic" "" "0000085743" "0" "90" "5" "180043465" "180043465" "subst" "0" "00034" "FLT4_000010" "g.180043465G>A" "" "{PMID:Evans 2003:12960217}" "" "" "" "De novo" "" "" "0" "" "" "g.180616465G>A" "" "pathogenic" "" "0000085744" "0" "90" "5" "180043464" "180043464" "subst" "0" "00034" "FLT4_000011" "g.180043464C>T" "" "{PMID:Evans 2003:12960217}" "" "" "" "De novo" "" "" "0" "" "" "g.180616464C>T" "" "pathogenic" "" "0000085745" "0" "90" "5" "180043464" "180043464" "subst" "0" "00034" "FLT4_000011" "g.180043464C>T" "" "{PMID:Evans 2003:12960217}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180616464C>T" "" "pathogenic" "" "0000085746" "0" "90" "5" "180041077" "180041079" "del" "0" "00034" "FLT4_000012" "g.180041077_180041079del" "" "{PMID:Evans 2003:12960217}, {OMIM136352:0011}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180614077_180614079del" "" "pathogenic" "" "0000085747" "0" "90" "5" "180041077" "180041079" "del" "0" "00034" "FLT4_000012" "g.180041077_180041079del" "" "{PMID:Evans 2003:12960217}, {OMIM136352:0011}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180614077_180614079del" "" "pathogenic" "" "0000085748" "0" "90" "5" "180040032" "180040032" "subst" "0" "00034" "FLT4_000013" "g.180040032G>A" "" "{PMID:Evans 2003:12960217}" "" "" "Parental DNA not available, so de novo status inferred." "De novo" "" "" "0" "" "" "g.180613032G>A" "" "pathogenic" "" "0000085749" "0" "90" "5" "180046074" "180046074" "subst" "0" "00034" "FLT4_000009" "g.180046074C>G" "" "{PMID:Evans 2003:12960217}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180619074C>G" "" "pathogenic" "" "0000085750" "21" "90" "5" "180046758" "180046758" "subst" "0" "00034" "FLT4_000025" "g.180046758C>G" "" "{PMID:Connell 2009:19002718}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180619758C>G" "" "pathogenic" "" "0000085751" "11" "90" "5" "180046758" "180046758" "subst" "0" "00034" "FLT4_000024" "g.180046758C>T" "" "{PMID:Connell 2009:19002718}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180619758C>T" "" "pathogenic" "" "0000085752" "0" "90" "5" "180046758" "180046758" "subst" "0" "00034" "FLT4_000024" "g.180046758C>T" "" "{PMID:Connell 2009:19002718}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180619758C>T" "" "pathogenic" "" "0000085753" "11" "90" "5" "180046758" "180046758" "subst" "0" "00034" "FLT4_000024" "g.180046758C>T" "" "{PMID:Connell 2009:19002718}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180619758C>T" "" "pathogenic" "" "0000085754" "0" "90" "5" "180046752" "180046752" "subst" "0" "00034" "FLT4_000026" "g.180046752C>G" "" "{PMID:Connell 2009:19002718}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180619752C>G" "" "pathogenic" "" "0000085755" "0" "90" "5" "180046743" "180046743" "subst" "0" "00034" "FLT4_000002" "g.180046743C>T" "" "{PMID:Karkkainen 2000:10835628}, {OMIM136352:0002}" "" "" "" "Unknown" "?" "" "0" "" "" "g.180619743C>T" "" "pathogenic" "" "0000085756" "21" "90" "5" "180046074" "180046074" "subst" "0" "00034" "FLT4_000009" "g.180046074C>G" "" "{PMID:Evans 2003:12960217}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180619074C>G" "" "pathogenic" "" "0000085757" "21" "90" "5" "180046043" "180046043" "subst" "0" "00034" "FLT4_000027" "g.180046043C>G" "" "{PMID:Connell 2009:19002718}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180619043C>G" "" "pathogenic" "" "0000085758" "21" "90" "5" "180046043" "180046043" "subst" "0" "00034" "FLT4_000027" "g.180046043C>G" "" "{PMID:Connell 2009:19002718}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180619043C>G" "" "pathogenic" "" "0000085759" "0" "90" "5" "180043482" "180043482" "subst" "0" "00034" "FLT4_000005" "g.180043482T>C" "" "{PMID:Irrthum 2000:10856194}, {OMIM136352:0006}" "" "c.3123A>G" "" "Unknown" "?" "" "0" "" "" "g.180616482T>C" "" "pathogenic" "" "0000085760" "0" "90" "5" "180043477" "180043477" "subst" "0" "00034" "FLT4_000030" "g.180043477C>G" "" "{PMID:Connell 2009:19002718}" "" "" "" "Unknown" "?" "" "0" "" "" "g.180616477C>G" "" "pathogenic" "" "0000085761" "0" "90" "5" "180043464" "180043464" "subst" "0" "00034" "FLT4_000003" "g.180043464C>G" "" "{PMID:Karkkainen 2000:10835628}, {OMIM136352:0003}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180616464C>G" "" "pathogenic" "" "0000085762" "0" "90" "5" "180043464" "180043464" "subst" "0" "00034" "FLT4_000003" "g.180043464C>G" "" "{PMID:Karkkainen 2000:10835628}, {OMIM136352:0003}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180616464C>G" "" "pathogenic" "" "0000085763" "11" "90" "5" "180041077" "180041079" "del" "0" "00034" "FLT4_000012" "g.180041077_180041079del" "" "{PMID:Evans 2003:12960217}, {OMIM136352:0011}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180614077_180614079del" "" "pathogenic" "" "0000085764" "0" "90" "5" "180041077" "180041079" "del" "0" "00034" "FLT4_000012" "g.180041077_180041079del" "" "{PMID:Evans 2003:12960217}, {OMIM136352:0011}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180614077_180614079del" "" "pathogenic" "" "0000085765" "11" "90" "5" "180041077" "180041079" "del" "0" "00034" "FLT4_000012" "g.180041077_180041079del" "" "{PMID:Evans 2003:12960217}, {OMIM136352:0011}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180614077_180614079del" "" "pathogenic" "" "0000085766" "21" "90" "5" "180040051" "180040051" "subst" "0" "00034" "FLT4_000036" "g.180040051C>G" "" "{PMID:Connell 2009:19002718}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180613051C>G" "" "pathogenic" "" "0000085767" "0" "90" "5" "180040051" "180040051" "subst" "0" "00034" "FLT4_000036" "g.180040051C>G" "" "{PMID:Connell 2009:19002718}" "" "" "" "Unknown" "?" "" "0" "" "" "g.180613051C>G" "" "pathogenic" "" "0000085768" "0" "90" "5" "180040051" "180040051" "subst" "0" "00034" "FLT4_000036" "g.180040051C>G" "" "{PMID:Connell 2009:19002718}" "" "" "" "Unknown" "?" "" "0" "" "" "g.180613051C>G" "" "pathogenic" "" "0000085769" "0" "90" "5" "180046757" "180046757" "subst" "0" "00034" "FLT4_000039" "g.180046757C>A" "" "{PMID:Gordon 2012:23074044}" "" "" "" "Unknown" "?" "" "0" "" "" "g.180619757C>A" "" "pathogenic" "" "0000085770" "11" "35" "5" "180039610" "180039610" "subst" "4.87837E-5" "00034" "FLT4_000041" "g.180039610G>A" "" "{PMID:Gordon 2012:23074044}" "" "" "Possibly non-pathogenic" "Germline" "yes" "" "0" "" "" "g.180612610G>A" "" "likely benign" "" "0000085771" "0" "90" "5" "180046274" "180046274" "subst" "0" "00034" "FLT4_000042" "g.180046274C>G" "" "{PMID:Gordon 2012:23074044}" "" "" "" "De novo" "" "" "0" "" "" "g.180619274C>G" "" "pathogenic" "" "0000085772" "0" "90" "5" "180046274" "180046274" "subst" "0" "00034" "FLT4_000042" "g.180046274C>G" "" "{PMID:Gordon 2012:23074044}" "" "" "" "De novo" "" "" "0" "" "" "g.180619274C>G" "" "pathogenic" "" "0000085773" "21" "90" "5" "180046270" "180046270" "subst" "0" "00034" "FLT4_000043" "g.180046270G>T" "" "{PMID:Gordon 2012:23074044}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180619270G>T" "" "pathogenic" "" "0000085774" "0" "90" "5" "180046265" "180046265" "subst" "0" "00034" "FLT4_000044" "g.180046265T>G" "" "{PMID:Gordon 2012:23074044}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180619265T>G" "" "pathogenic" "" "0000085775" "0" "90" "5" "180046071" "180046071" "subst" "0" "00034" "FLT4_000045" "g.180046071T>A" "" "{PMID:Gordon 2012:23074044}" "" "" "" "Unknown" "?" "" "0" "" "" "g.180619071T>A" "" "pathogenic" "" "0000085776" "0" "90" "5" "180043942" "180043942" "subst" "0" "00034" "FLT4_000046" "g.180043942G>T" "" "{PMID:Gordon 2012:23074044}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180616942G>T" "" "pathogenic" "" "0000085777" "0" "90" "5" "180043940" "180043940" "subst" "0" "00034" "FLT4_000047" "g.180043940A>G" "" "{PMID:Gordon 2012:23074044}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180616940A>G" "" "pathogenic" "" "0000085778" "0" "90" "5" "180043921" "180043921" "subst" "0" "00034" "FLT4_000048" "g.180043921C>T" "" "{PMID:Gordon 2012:23074044}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180616921C>T" "" "pathogenic" "" "0000085779" "0" "90" "5" "180043489" "180043489" "subst" "0" "00034" "FLT4_000049" "g.180043489A>C" "" "{PMID:Gordon 2012:23074044}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180616489A>C" "" "pathogenic" "" "0000085780" "11" "90" "5" "180043475" "180043475" "subst" "0" "00034" "FLT4_000050" "g.180043475G>T" "" "{PMID:Gordon 2012:23074044}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180616475G>T" "" "pathogenic" "" "0000085781" "11" "90" "5" "180043467" "180043467" "subst" "0" "00034" "FLT4_000051" "g.180043467G>T" "" "{PMID:Gordon 2012:23074044}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180616467G>T" "" "pathogenic" "" "0000085782" "21" "90" "5" "180043467" "180043467" "subst" "0" "00034" "FLT4_000051" "g.180043467G>T" "" "{PMID:Gordon 2012:23074044}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180616467G>T" "" "pathogenic" "" "0000085783" "0" "90" "5" "180043464" "180043464" "subst" "0" "00034" "FLT4_000011" "g.180043464C>T" "" "{PMID:Evans 2003:12960217}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180616464C>T" "" "pathogenic" "" "0000085784" "0" "90" "5" "180043429" "180043429" "subst" "0" "00034" "FLT4_000052" "g.180043429T>A" "" "{PMID:Gordon 2012:23074044}" "" "" "Chy mouse equivalent" "De novo" "" "" "0" "" "" "g.180616429T>A" "" "pathogenic" "" "0000085785" "11" "90" "5" "180043416" "180043416" "subst" "0" "00034" "FLT4_000053" "g.180043416C>T" "" "{PMID:Gordon 2012:23074044}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180616416C>T" "" "pathogenic" "" "0000085786" "0" "90" "5" "180041149" "180041149" "subst" "0" "00034" "FLT4_000054" "g.180041149C>T" "" "{PMID:Gordon 2012:23074044}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180614149C>T" "" "pathogenic" "" "0000085787" "0" "90" "5" "180041149" "180041149" "subst" "0" "00034" "FLT4_000054" "g.180041149C>T" "" "{PMID:Gordon 2012:23074044}" "" "" "" "De novo" "" "" "0" "" "" "g.180614149C>T" "" "pathogenic" "" "0000085788" "0" "90" "5" "180041091" "180041091" "subst" "0" "00034" "FLT4_000055" "g.180041091A>G" "" "{PMID:Gordon 2012:23074044}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180614091A>G" "" "pathogenic" "" "0000085789" "11" "90" "5" "180041089" "180041089" "subst" "0" "00034" "FLT4_000056" "g.180041089G>A" "" "{PMID:Gordon 2012:23074044}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180614089G>A" "" "pathogenic" "" "0000085790" "21" "90" "5" "180041081" "180041081" "subst" "0" "00034" "FLT4_000057" "g.180041081C>A" "" "{PMID:Gordon 2012:23074044}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180614081C>A" "" "pathogenic" "" "0000085791" "0" "90" "5" "180041076" "180041076" "subst" "0" "00034" "FLT4_000058" "g.180041076A>G" "" "{PMID:Gordon 2012:23074044}" "" "" "" "De novo" "" "" "0" "" "" "g.180614076A>G" "" "pathogenic" "" "0000085936" "0" "55" "5" "180046743" "180046743" "subst" "0" "00034" "FLT4_000064" "g.180046743C>G" "" "{PMID:Mendola 2013:24167460}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180619743C>G" "" "VUS" "" "0000085937" "0" "55" "5" "180046074" "180046074" "subst" "0" "00034" "FLT4_000009" "g.180046074C>G" "" "{PMID:Mendola 2013:24167460}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180619074C>G" "" "VUS" "" "0000085938" "0" "55" "5" "180043465" "180043465" "subst" "0" "00034" "FLT4_000010" "g.180043465G>A" "" "{PMID:Mendola 2013:24167460}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180616465G>A" "" "VUS" "" "0000085939" "0" "55" "5" "180043465" "180043465" "subst" "0" "00034" "FLT4_000010" "g.180043465G>A" "" "{PMID:Mendola 2013:24167460}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180616465G>A" "" "VUS" "" "0000085942" "0" "55" "5" "180040101" "180040101" "subst" "0" "00034" "FLT4_000001" "g.180040101G>A" "" "{PMID:Mendola 2013:24167460}" "" "c.3360G>A (p.Pro1126Leu)" "" "De novo" "" "" "0" "" "" "g.180613101G>A" "" "VUS" "" "0000086026" "11" "90" "5" "180046334" "180046336" "del" "0" "00034" "FLT4_000040" "g.180046334_180046336del" "" "{PMID:Gordon 2012:23074044}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180619334_180619336del" "" "pathogenic" "" "0000244115" "0" "50" "5" "180048577" "180048577" "subst" "0" "02322" "FLT4_000069" "g.180048577T>A" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.180621577T>A" "" "VUS" "" "0000244116" "0" "50" "5" "180030376" "180030376" "subst" "0.00328165" "02322" "FLT4_000068" "g.180030376C>G" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.180603376C>G" "" "VUS" "" "0000276820" "0" "10" "5" "180055947" "180055947" "subst" "0.000302552" "02330" "FLT4_000094" "g.180055947C>T" "" "" "" "FLT4(NM_182925.4):c.1038G>A (p.T346=), FLT4(NM_182925.5):c.1038G>A (p.T346=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180628947C>T" "" "benign" "" "0000276821" "0" "10" "5" "180055864" "180055864" "subst" "0.471018" "02330" "FLT4_000093" "g.180055864G>A" "" "" "" "FLT4(NM_182925.5):c.1103+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180628864G>A" "" "benign" "" "0000276822" "0" "10" "5" "180055862" "180055862" "subst" "0.61223" "02330" "FLT4_000091" "g.180055862T>G" "" "" "" "FLT4(NM_182925.5):c.1103+20A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180628862T>G" "" "benign" "" "0000276823" "0" "10" "5" "180055862" "180055862" "subst" "0.0725998" "02330" "FLT4_000092" "g.180055862T>C" "" "" "" "FLT4(NM_182925.5):c.1103+20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180628862T>C" "" "benign" "" "0000276824" "0" "10" "5" "180053097" "180053097" "subst" "0.0522604" "02330" "FLT4_000090" "g.180053097C>T" "" "" "" "FLT4(NM_182925.5):c.1258+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180626097C>T" "" "benign" "" "0000276825" "0" "10" "5" "180052946" "180052946" "subst" "0.0313836" "02330" "FLT4_000089" "g.180052946G>A" "" "" "" "FLT4(NM_182925.5):c.1344C>T (p.Y448=, p.(Tyr448=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180625946G>A" "" "benign" "" "0000276826" "0" "10" "5" "180052837" "180052855" "del" "0" "02330" "FLT4_000088" "g.180052837_180052855del" "" "" "" "FLT4(NM_182925.5):c.1421+19_1421+37delTCAGGTCCCCTGCACAGCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180625837_180625855del" "" "benign" "" "0000276827" "0" "50" "5" "180051054" "180051054" "subst" "2.45797E-5" "02330" "FLT4_000087" "g.180051054G>A" "" "" "" "FLT4(NM_182925.5):c.1429C>T (p.R477W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180624054G>A" "" "VUS" "" "0000276828" "0" "10" "5" "180051003" "180051003" "subst" "0.0891779" "02330" "FLT4_000086" "g.180051003T>C" "" "" "" "FLT4(NM_182925.5):c.1480A>G (p.T494A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180624003T>C" "" "benign" "" "0000276829" "0" "10" "5" "180049808" "180049808" "subst" "0.00567031" "02330" "FLT4_000085" "g.180049808T>C" "" "" "" "FLT4(NM_182925.5):c.1580A>G (p.N527S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180622808T>C" "" "benign" "" "0000276830" "0" "30" "5" "180048641" "180048641" "subst" "0.00380749" "02330" "FLT4_000084" "g.180048641G>A" "" "" "" "FLT4(NM_182925.4):c.1921C>T (p.P641S, p.(Pro641Ser)), FLT4(NM_182925.5):c.1921C>T (p.P641S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180621641G>A" "" "likely benign" "" "0000276831" "0" "10" "5" "180048554" "180048554" "subst" "4.10199E-6" "02330" "FLT4_000083" "g.180048554G>A" "" "" "" "FLT4(NM_182925.5):c.2008C>T (p.L670=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180621554G>A" "" "benign" "" "0000276832" "0" "10" "5" "180047863" "180047863" "subst" "0.990617" "02330" "FLT4_000082" "g.180047863C>G" "" "" "" "FLT4(NM_182925.5):c.2299+13G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180620863C>G" "" "benign" "" "0000276833" "0" "70" "5" "180046758" "180046758" "subst" "0" "02330" "FLT4_000024" "g.180046758C>T" "" "" "" "FLT4(NM_182925.5):c.2554G>A (p.G852S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180619758C>T" "" "likely pathogenic" "" "0000276834" "0" "70" "5" "180046680" "180046680" "subst" "0" "02330" "FLT4_000015" "g.180046680C>T" "" "" "" "FLT4(NM_182925.5):c.2632G>A (p.V878M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180619680C>T" "" "likely pathogenic" "" "0000276835" "0" "10" "5" "180046344" "180046344" "subst" "0.63013" "02330" "FLT4_000080" "g.180046344G>C" "" "" "" "FLT4(NM_182925.5):c.2670C>G (p.H890Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180619344G>C" "" "benign" "" "0000276836" "0" "90" "5" "180046274" "180046274" "subst" "0" "02330" "FLT4_000042" "g.180046274C>G" "" "" "" "FLT4(NM_182925.5):c.2740G>C (p.G914R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180619274C>G" "" "pathogenic" "" "0000276837" "0" "70" "5" "180046074" "180046074" "subst" "0" "02330" "FLT4_000079" "g.180046074C>A" "" "" "" "FLT4(NM_182925.5):c.2797G>T (p.G933C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180619074C>A" "" "likely pathogenic" "" "0000276838" "0" "70" "5" "180046043" "180046043" "subst" "0" "02330" "FLT4_000027" "g.180046043C>G" "" "" "" "FLT4(NM_182925.5):c.2828G>C (p.R943P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180619043C>G" "" "likely pathogenic" "" "0000276839" "0" "10" "5" "180045911" "180045911" "subst" "0.00352994" "02330" "FLT4_000078" "g.180045911G>A" "" "" "" "FLT4(NM_182925.5):c.2860C>T (p.P954S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180618911G>A" "" "benign" "" "0000276840" "0" "70" "5" "180043461" "180043461" "subst" "0" "02330" "FLT4_000032" "g.180043461T>C" "" "" "" "FLT4(NM_182925.5):c.3125A>G (p.N1042S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180616461T>C" "" "likely pathogenic" "" "0000276841" "0" "10" "5" "180043388" "180043388" "subst" "0.265955" "02330" "FLT4_000077" "g.180043388G>A" "" "" "" "FLT4(NM_182925.5):c.3198C>T (p.P1066=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180616388G>A" "" "benign" "" "0000276842" "0" "10" "5" "180039606" "180039606" "subst" "0.0750937" "02330" "FLT4_000075" "g.180039606C>T" "" "" "" "FLT4(NM_182925.5):c.3437G>A (p.R1146H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180612606C>T" "" "benign" "" "0000276843" "0" "10" "5" "180039492" "180039492" "subst" "0.000717424" "02330" "FLT4_000073" "g.180039492G>C" "" "" "" "FLT4(NM_182925.5):c.3537+14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180612492G>C" "" "benign" "" "0000276844" "0" "10" "5" "180038336" "180038336" "subst" "0.00243509" "02330" "FLT4_000072" "g.180038336G>A" "" "" "" "FLT4(NM_182925.4):c.3681C>T (p.A1227=), FLT4(NM_182925.5):c.3681C>T (p.A1227=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180611336G>A" "" "benign" "" "0000276845" "0" "10" "5" "180030322" "180030322" "subst" "0.00899934" "02330" "FLT4_000071" "g.180030322C>T" "" "" "" "FLT4(NM_182925.4):c.3962G>A (p.(Arg1321Gln)), FLT4(NM_182925.5):c.3962G>A (p.R1321Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180603322C>T" "" "benign" "" "0000276846" "0" "10" "5" "180030313" "180030313" "subst" "0.0787195" "02330" "FLT4_000070" "g.180030313C>A" "" "" "" "FLT4(NM_182925.5):c.3971G>T (p.R1324L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180603313C>A" "" "benign" "" "0000276847" "0" "10" "5" "180057538" "180057538" "subst" "0.0477789" "02330" "FLT4_000102" "g.180057538C>T" "" "" "" "FLT4(NM_182925.5):c.400+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180630538C>T" "" "benign" "" "0000276848" "0" "10" "5" "180057356" "180057356" "subst" "0.129881" "02330" "FLT4_000101" "g.180057356C>G" "" "" "" "FLT4(NM_182925.5):c.401-19G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180630356C>G" "" "benign" "" "0000276849" "0" "10" "5" "180057293" "180057293" "subst" "0.0742877" "02330" "FLT4_000100" "g.180057293T>C" "" "" "" "FLT4(NM_182925.5):c.445A>G (p.N149D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180630293T>C" "" "benign" "" "0000276850" "0" "10" "5" "180057249" "180057249" "subst" "0.0106411" "02330" "FLT4_000099" "g.180057249G>A" "" "" "" "FLT4(NM_182925.5):c.489C>T (p.P163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180630249G>A" "" "benign" "" "0000276851" "0" "30" "5" "180057234" "180057234" "subst" "0.000130457" "02330" "FLT4_000098" "g.180057234C>T" "" "" "" "FLT4(NM_182925.5):c.504G>A (p.T168=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180630234C>T" "" "likely benign" "" "0000276852" "0" "30" "5" "180057056" "180057056" "subst" "9.37207E-5" "02330" "FLT4_000097" "g.180057056C>T" "" "" "" "FLT4(NM_182925.4):c.563G>A (p.R188Q), FLT4(NM_182925.5):c.563G>A (p.R188Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180630056C>T" "" "likely benign" "" "0000276853" "0" "10" "5" "180056986" "180056986" "subst" "0.00905232" "02330" "FLT4_000096" "g.180056986T>C" "" "" "" "FLT4(NM_182925.5):c.633A>G (p.G211=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180629986T>C" "" "benign" "" "0000276854" "0" "10" "5" "180056925" "180056925" "subst" "0.000269423" "02330" "FLT4_000095" "g.180056925G>A" "" "" "" "FLT4(NM_182925.5):c.676+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180629925G>A" "" "benign" "" "0000280835" "0" "10" "5" "180047863" "180047863" "subst" "0.990617" "02325" "FLT4_000082" "g.180047863C>G" "" "" "" "FLT4(NM_182925.5):c.2299+13G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180620863C>G" "" "benign" "" "0000280836" "0" "10" "5" "180046495" "180046496" "del" "0" "02325" "FLT4_000081" "g.180046495_180046496del" "" "" "" "FLT4(NM_182925.5):c.2648-128_2648-127delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180619495_180619496del" "" "benign" "" "0000280837" "0" "10" "5" "180046344" "180046344" "subst" "0.63013" "02325" "FLT4_000080" "g.180046344G>C" "" "" "" "FLT4(NM_182925.5):c.2670C>G (p.H890Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180619344G>C" "" "benign" "" "0000280838" "0" "10" "5" "180043388" "180043388" "subst" "0.265955" "02325" "FLT4_000077" "g.180043388G>A" "" "" "" "FLT4(NM_182925.5):c.3198C>T (p.P1066=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180616388G>A" "" "benign" "" "0000330788" "0" "50" "5" "180039583" "180039583" "subst" "0.00190649" "01804" "FLT4_000074" "g.180039583C>T" "" "" "" "FLT4(NM_002020.4):c.3460G>A (p.(Gly1154Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180612583C>T" "" "VUS" "" "0000330789" "0" "50" "5" "180041190" "180041223" "del" "0" "01804" "FLT4_000076" "g.180041190_180041223del" "" "" "" "FLT4(NM_002020.4):c.3220-35_3220-2del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180614190_180614223del" "" "VUS" "" "0000368691" "0" "97" "5" "180046663" "180046663" "subst" "0" "01829" "FLT4_000062" "g.180046663A>G" "" "{PMID:Mendola 2013:24167460}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180619663A>G" "" "likely pathogenic" "" "0000368692" "0" "97" "5" "180046758" "180046758" "subst" "0" "01829" "FLT4_000059" "g.180046758C>A" "" "{PMID:Mendola 2013:24167460}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180619758C>A" "" "likely pathogenic" "" "0000368693" "0" "97" "5" "180046758" "180046758" "subst" "0" "01829" "FLT4_000059" "g.180046758C>A" "" "{PMID:Mendola 2013:24167460}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180619758C>A" "" "likely pathogenic" "" "0000368694" "21" "97" "5" "180046686" "180046686" "subst" "0" "01829" "FLT4_000061" "g.180046686C>A" "" "{PMID:Mendola 2013:24167460}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180619686C>A" "" "likely pathogenic" "" "0000368695" "0" "97" "5" "180046725" "180046725" "subst" "0" "01829" "FLT4_000065" "g.180046725A>G" "" "{PMID:Mendola 2013:24167460}" "" "" "" "De novo" "" "" "0" "" "" "g.180619725A>G" "" "likely pathogenic" "" "0000368696" "11" "97" "5" "180046727" "180046727" "subst" "0" "01829" "FLT4_000060" "g.180046727G>A" "" "{PMID:Mendola 2013:24167460}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180619727G>A" "" "likely pathogenic" "" "0000368697" "0" "97" "5" "180046052" "180046052" "subst" "0" "01829" "FLT4_000066" "g.180046052C>G" "" "{PMID:Mendola 2013:24167460}" "" "" "" "Unknown" "" "" "0" "" "" "g.180619052C>G" "" "likely pathogenic" "" "0000368698" "0" "97" "5" "180043465" "180043465" "subst" "0" "01829" "FLT4_000063" "g.180043465G>C" "" "{PMID:Mendola 2013:24167460}" "" "" "" "Germline" "" "" "0" "" "" "g.180616465G>C" "" "likely pathogenic" "" "0000368699" "0" "97" "5" "180040051" "180040051" "subst" "0" "01829" "FLT4_000067" "g.180040051C>T" "" "{PMID:Mendola 2013:24167460}" "" "" "" "De novo" "" "" "0" "" "" "g.180613051C>T" "" "likely pathogenic" "" "0000525435" "0" "30" "5" "180030221" "180030221" "subst" "0.00140909" "02330" "FLT4_000103" "g.180030221C>T" "" "" "" "FLT4(NM_182925.5):c.4063G>A (p.V1355M, p.(Val1355Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180603221C>T" "" "likely benign" "" "0000525436" "0" "30" "5" "180030221" "180030221" "subst" "0.00140909" "01804" "FLT4_000103" "g.180030221C>T" "" "" "" "FLT4(NM_182925.5):c.4063G>A (p.V1355M, p.(Val1355Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180603221C>T" "" "likely benign" "" "0000525438" "0" "30" "5" "180030313" "180030313" "subst" "0.000756123" "02330" "FLT4_000105" "g.180030313C>G" "" "" "" "FLT4(NM_182925.5):c.3971G>C (p.R1324P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180603313C>G" "" "likely benign" "" "0000525439" "0" "30" "5" "180030322" "180030322" "subst" "0.00899934" "01804" "FLT4_000071" "g.180030322C>T" "" "" "" "FLT4(NM_182925.4):c.3962G>A (p.(Arg1321Gln)), FLT4(NM_182925.5):c.3962G>A (p.R1321Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180603322C>T" "" "likely benign" "" "0000525440" "0" "10" "5" "180030325" "180030325" "subst" "0.00552261" "02330" "FLT4_000106" "g.180030325C>T" "" "" "" "FLT4(NM_182925.5):c.3959G>A (p.R1320Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180603325C>T" "" "benign" "" "0000525441" "0" "10" "5" "180030376" "180030376" "subst" "0.00328165" "02330" "FLT4_000068" "g.180030376C>G" "" "" "" "FLT4(NM_182925.5):c.3908G>C (p.G1303A, p.(Gly1303Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180603376C>G" "" "benign" "" "0000525442" "0" "10" "5" "180039606" "180039606" "subst" "0.0750937" "02327" "FLT4_000075" "g.180039606C>T" "" "" "" "FLT4(NM_182925.5):c.3437G>A (p.R1146H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180612606C>T" "" "benign" "" "0000525443" "0" "50" "5" "180040041" "180040041" "subst" "0" "02330" "FLT4_000107" "g.180040041A>C" "" "" "" "FLT4(NM_182925.5):c.3401T>G (p.M1134R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180613041A>C" "" "VUS" "" "0000525444" "0" "90" "5" "180040051" "180040051" "subst" "0" "02330" "FLT4_000036" "g.180040051C>G" "" "" "" "FLT4(NM_182925.5):c.3391G>C (p.G1131R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180613051C>G" "" "pathogenic" "" "0000525445" "0" "90" "5" "180040051" "180040051" "subst" "0" "02329" "FLT4_000036" "g.180040051C>G" "" "" "" "FLT4(NM_182925.5):c.3391G>C (p.G1131R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180613051C>G" "" "pathogenic" "" "0000525446" "0" "50" "5" "180040141" "180040141" "subst" "0" "02327" "FLT4_000108" "g.180040141G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180613141G>C" "" "VUS" "" "0000525447" "0" "50" "5" "180041097" "180041097" "subst" "0" "02330" "FLT4_000109" "g.180041097C>A" "" "" "" "FLT4(NM_182925.5):c.3302G>T (p.G1101V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180614097C>A" "" "VUS" "" "0000525448" "0" "50" "5" "180041208" "180041208" "subst" "0.721753" "02327" "FLT4_000110" "g.180041208T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180614208T>C" "" "VUS" "" "0000525449" "0" "10" "5" "180043388" "180043388" "subst" "0.265955" "02327" "FLT4_000077" "g.180043388G>A" "" "" "" "FLT4(NM_182925.5):c.3198C>T (p.P1066=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180616388G>A" "" "benign" "" "0000525450" "0" "50" "5" "180043407" "180043407" "subst" "0" "02330" "FLT4_000111" "g.180043407C>G" "" "" "" "FLT4(NM_182925.5):c.3179G>C (p.R1060P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180616407C>G" "" "VUS" "" "0000525451" "0" "10" "5" "180043439" "180043439" "subst" "0.00316865" "02330" "FLT4_000112" "g.180043439G>A" "" "" "" "FLT4(NM_182925.5):c.3147C>T (p.D1049=, p.(Asp1049=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180616439G>A" "" "benign" "" "0000525452" "0" "50" "5" "180043464" "180043464" "subst" "0" "02327" "FLT4_000011" "g.180043464C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180616464C>T" "" "VUS" "" "0000525453" "0" "70" "5" "180043465" "180043465" "subst" "0" "02327" "FLT4_000010" "g.180043465G>A" "" "" "" "FLT4(NM_182925.5):c.3121C>T (p.R1041W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180616465G>A" "" "likely pathogenic" "" "0000525454" "0" "50" "5" "180043926" "180043926" "subst" "0" "02327" "FLT4_000028" "g.180043926C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180616926C>T" "" "VUS" "" "0000525455" "0" "50" "5" "180043973" "180043973" "subst" "0.000487797" "02327" "FLT4_000113" "g.180043973G>A" "" "" "" "FLT4(NM_182925.4):c.3023C>T (p.P1008L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180616973G>A" "" "VUS" "" "0000525456" "0" "30" "5" "180043978" "180043978" "subst" "1.21969E-5" "02327" "FLT4_000114" "g.180043978C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180616978C>T" "" "likely benign" "" "0000525457" "0" "50" "5" "180045702" "180045703" "ins" "0" "02327" "FLT4_000115" "g.180045702_180045703insTTACCCTAGG" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180618702_180618703insTTACCCTAGG" "" "VUS" "" "0000525458" "0" "50" "5" "180045739" "180045739" "subst" "0.00419592" "02327" "FLT4_000116" "g.180045739A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180618739A>C" "" "VUS" "" "0000525459" "0" "30" "5" "180045782" "180045782" "subst" "0" "01943" "FLT4_000117" "g.180045782G>C" "" "" "" "FLT4(NM_182925.4):c.2989C>G (p.P997A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180618782G>C" "" "likely benign" "" "0000525460" "0" "50" "5" "180045875" "180045875" "subst" "0" "01804" "FLT4_000118" "g.180045875G>C" "" "" "" "FLT4(NM_182925.5):c.2896C>G (p.(Leu966Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180618875G>C" "" "VUS" "" "0000525461" "0" "10" "5" "180045911" "180045911" "subst" "0.00352994" "02325" "FLT4_000078" "g.180045911G>A" "" "" "" "FLT4(NM_182925.5):c.2860C>T (p.P954S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180618911G>A" "" "benign" "" "0000525462" "0" "50" "5" "180045920" "180045922" "del" "0" "02330" "FLT4_000119" "g.180045920_180045922del" "" "" "" "FLT4(NM_182925.5):c.2851_2853delGAG (p.E951del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180618920_180618922del" "" "VUS" "" "0000525463" "0" "70" "5" "180046055" "180046055" "subst" "0" "02327" "FLT4_000120" "g.180046055A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180619055A>C" "" "likely pathogenic" "" "0000525464" "0" "70" "5" "180046069" "180046069" "subst" "0" "02327" "FLT4_000121" "g.180046069G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180619069G>C" "" "likely pathogenic" "" "0000525465" "0" "90" "5" "180046074" "180046074" "subst" "0" "02327" "FLT4_000009" "g.180046074C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180619074C>G" "" "pathogenic" "" "0000525466" "0" "70" "5" "180046737" "180046737" "subst" "0" "02330" "FLT4_000122" "g.180046737C>G" "" "" "" "FLT4(NM_182925.4):c.2575G>C (p.(Val859Leu)), FLT4(NM_182925.5):c.2575G>C (p.V859L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180619737C>G" "" "likely pathogenic" "" "0000525467" "0" "50" "5" "180046758" "180046758" "subst" "0" "02327" "FLT4_000025" "g.180046758C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180619758C>G" "" "VUS" "" "0000525468" "0" "30" "5" "180046783" "180046783" "subst" "0.000151066" "02330" "FLT4_000123" "g.180046783G>A" "" "" "" "FLT4(NM_182925.5):c.2543-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180619783G>A" "" "likely benign" "" "0000525470" "0" "10" "5" "180055936" "180055936" "subst" "0.0010149" "01943" "FLT4_000125" "g.180055936T>A" "" "" "" "FLT4(NM_182925.4):c.1049A>T (p.E350V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180628936T>A" "" "benign" "" "0000525471" "0" "30" "5" "180057001" "180057001" "subst" "0.000175207" "01943" "FLT4_000126" "g.180057001G>A" "" "" "" "FLT4(NM_182925.4):c.618C>T (p.C206=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180630001G>A" "" "likely benign" "" "0000525472" "0" "10" "5" "180057231" "180057231" "subst" "0.0764596" "02330" "FLT4_000127" "g.180057231C>A" "" "" "" "FLT4(NM_182925.5):c.507G>T (p.L169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180630231C>A" "" "benign" "" "0000525473" "0" "30" "5" "180057642" "180057642" "subst" "7.32583E-5" "01943" "FLT4_000128" "g.180057642C>T" "" "" "" "FLT4(NM_182925.4):c.313G>A (p.D105N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180630642C>T" "" "likely benign" "" "0000525474" "0" "10" "5" "180058761" "180058761" "subst" "0.00163864" "01943" "FLT4_000129" "g.180058761A>C" "" "" "" "FLT4(NM_182925.4):c.76T>G (p.S26A), FLT4(NM_182925.5):c.76T>G (p.S26A, p.(Ser26Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180631761A>C" "" "benign" "" "0000609660" "0" "30" "5" "180030313" "180030313" "subst" "0.000756123" "02327" "FLT4_000105" "g.180030313C>G" "" "" "" "FLT4(NM_182925.5):c.3971G>C (p.R1324P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180603313C>G" "" "likely benign" "" "0000609661" "0" "70" "5" "180043430" "180043430" "subst" "0" "01804" "FLT4_000130" "g.180043430C>A" "" "" "" "FLT4(NM_182925.4):c.3156G>T (p.(Lys1052Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180616430C>A" "" "likely pathogenic" "" "0000609662" "0" "30" "5" "180045908" "180045908" "subst" "0.000132967" "02327" "FLT4_000132" "g.180045908C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180618908C>G" "" "likely benign" "" "0000609663" "0" "30" "5" "180046108" "180046108" "subst" "0" "01804" "FLT4_000133" "g.180046108G>C" "" "" "" "FLT4(NM_002020.4):c.2763C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180619108G>C" "" "likely benign" "" "0000609664" "0" "30" "5" "180048161" "180048161" "subst" "4.9253E-5" "02327" "FLT4_000134" "g.180048161C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180621161C>T" "" "likely benign" "" "0000609665" "0" "30" "5" "180048641" "180048641" "subst" "0.00380749" "02325" "FLT4_000084" "g.180048641G>A" "" "" "" "FLT4(NM_182925.4):c.1921C>T (p.P641S, p.(Pro641Ser)), FLT4(NM_182925.5):c.1921C>T (p.P641S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180621641G>A" "" "likely benign" "" "0000609666" "0" "10" "5" "180048641" "180048641" "subst" "0.00380749" "02327" "FLT4_000084" "g.180048641G>A" "" "" "" "FLT4(NM_182925.4):c.1921C>T (p.P641S, p.(Pro641Ser)), FLT4(NM_182925.5):c.1921C>T (p.P641S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180621641G>A" "" "benign" "" "0000609667" "0" "30" "5" "180051002" "180051002" "subst" "3.66259E-5" "01943" "FLT4_000135" "g.180051002G>A" "" "" "" "FLT4(NM_182925.4):c.1481C>T (p.T494M, p.(Thr494Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180624002G>A" "" "likely benign" "" "0000609668" "0" "30" "5" "180052982" "180052982" "subst" "0.000290824" "02327" "FLT4_000136" "g.180052982C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180625982C>T" "" "likely benign" "" "0000609669" "0" "30" "5" "180055897" "180055897" "subst" "8.21889E-5" "02327" "FLT4_000137" "g.180055897G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180628897G>A" "" "likely benign" "" "0000609670" "0" "30" "5" "180057042" "180057042" "subst" "8.15548E-6" "02327" "FLT4_000138" "g.180057042C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180630042C>G" "" "likely benign" "" "0000609671" "0" "30" "5" "180057053" "180057053" "subst" "8.14936E-6" "02327" "FLT4_000139" "g.180057053C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180630053C>T" "" "likely benign" "" "0000609672" "0" "30" "5" "180057055" "180057055" "subst" "0" "02327" "FLT4_000140" "g.180057055C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180630055C>T" "" "likely benign" "" "0000609673" "0" "50" "5" "180057220" "180057220" "subst" "9.79768E-5" "02327" "FLT4_000141" "g.180057220C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180630220C>T" "" "VUS" "" "0000621553" "0" "30" "5" "180045820" "180045820" "subst" "0.000128866" "02330" "FLT4_000131" "g.180045820C>T" "" "" "" "FLT4(NM_182925.5):c.2951G>A (p.R984Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180618820C>T" "" "likely benign" "" "0000621554" "0" "70" "5" "180058748" "180058748" "subst" "0" "02325" "FLT4_000142" "g.180058748G>A" "" "" "" "FLT4(NM_182925.5):c.89C>T (p.P30L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180631748G>A" "" "likely pathogenic" "" "0000630841" "0" "70" "5" "180036040" "180036040" "subst" "0" "03466" "FLT4_000143" "g.180036040T>A" "" "" "" "" "variant initially classified as VUS, once the fetus progressed to hydrops re-classified as likely pathogenic" "De novo" "yes" "" "0" "" "" "g.180609040T>A" "" "likely pathogenic (dominant)" "" "0000651690" "1" "10" "5" "180030313" "180030313" "subst" "0.0787195" "03575" "FLT4_000070" "g.180030313C>A" "233/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "233 heterozygous; {DB:CLININrs307821}" "Germline" "" "rs307821" "0" "" "" "g.180603313C>A" "" "benign" "" "0000651691" "1" "10" "5" "180056863" "180056863" "subst" "0.0315573" "03575" "FLT4_000144" "g.180056863C>T" "102/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "102 heterozygous; {DB:CLININrs56361806}" "Germline" "" "rs56361806" "0" "" "" "g.180629863C>T" "" "benign" "" "0000655364" "0" "30" "5" "180047711" "180047711" "subst" "3.26291E-5" "02330" "FLT4_000145" "g.180047711G>C" "" "" "" "FLT4(NM_182925.5):c.2304C>G (p.S768=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180620711G>C" "" "likely benign" "" "0000655365" "0" "30" "5" "180048641" "180048641" "subst" "0.00380749" "01943" "FLT4_000084" "g.180048641G>A" "" "" "" "FLT4(NM_182925.4):c.1921C>T (p.P641S, p.(Pro641Ser)), FLT4(NM_182925.5):c.1921C>T (p.P641S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180621641G>A" "" "likely benign" "" "0000655366" "0" "10" "5" "180058761" "180058761" "subst" "0.00163864" "02330" "FLT4_000129" "g.180058761A>C" "" "" "" "FLT4(NM_182925.4):c.76T>G (p.S26A), FLT4(NM_182925.5):c.76T>G (p.S26A, p.(Ser26Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180631761A>C" "" "benign" "" "0000669846" "3" "10" "5" "180030313" "180030313" "subst" "0.0787195" "03575" "FLT4_000070" "g.180030313C>A" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 homozygous; {DB:CLININrs307821}" "Germline" "" "rs307821" "0" "" "" "g.180603313C>A" "" "benign" "" "0000669847" "3" "10" "5" "180056863" "180056863" "subst" "0.0315573" "03575" "FLT4_000144" "g.180056863C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs56361806}" "Germline" "" "rs56361806" "0" "" "" "g.180629863C>T" "" "benign" "" "0000677493" "0" "70" "5" "180046725" "180046725" "subst" "0" "02330" "FLT4_000065" "g.180046725A>G" "" "" "" "FLT4(NM_182925.5):c.2587T>C (p.S863P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000689498" "0" "50" "5" "180043973" "180043973" "subst" "0.000487797" "01943" "FLT4_000113" "g.180043973G>A" "" "" "" "FLT4(NM_182925.4):c.3023C>T (p.P1008L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689499" "0" "30" "5" "180057056" "180057056" "subst" "9.37207E-5" "01943" "FLT4_000097" "g.180057056C>T" "" "" "" "FLT4(NM_182925.4):c.563G>A (p.R188Q), FLT4(NM_182925.5):c.563G>A (p.R188Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000712655" "3" "50" "5" "180030376" "180030376" "subst" "0.00328165" "03980" "FLT4_000068" "g.180030376C>G" "" "Doucette 2021, submitted" "" "" "" "Germline" "yes" "rs146806202" "" "" "" "" "{CV:263053}" "VUS" "" "0000720382" "0" "30" "5" "180040079" "180040079" "subst" "0.000234084" "01943" "FLT4_000147" "g.180040079A>G" "" "" "" "FLT4(NM_182925.4):c.3363T>C (p.N1121=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720383" "0" "70" "5" "180041149" "180041149" "subst" "0" "02330" "FLT4_000054" "g.180041149C>T" "" "" "" "FLT4(NM_182925.5):c.3250G>A (p.E1084K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000720384" "0" "50" "5" "180043407" "180043407" "subst" "9.34192E-5" "02330" "FLT4_000148" "g.180043407C>T" "" "" "" "FLT4(NM_182925.5):c.3179G>A (p.R1060Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720385" "0" "70" "5" "180056292" "180056292" "subst" "0" "02330" "FLT4_000149" "g.180056292G>A" "" "" "" "FLT4(NM_182925.5):c.952C>T (p.R318*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000720386" "0" "30" "5" "180057580" "180057580" "subst" "8.15149E-6" "01943" "FLT4_000150" "g.180057580G>A" "" "" "" "FLT4(NM_182925.4):c.375C>T (p.A125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802053" "0" "30" "5" "180038336" "180038336" "subst" "0.00243509" "01943" "FLT4_000072" "g.180038336G>A" "" "" "" "FLT4(NM_182925.4):c.3681C>T (p.A1227=), FLT4(NM_182925.5):c.3681C>T (p.A1227=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802054" "0" "30" "5" "180046356" "180046356" "subst" "4.18904E-6" "01943" "FLT4_000151" "g.180046356C>T" "" "" "" "FLT4(NM_182925.4):c.2658G>A (p.T886=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802055" "0" "10" "5" "180047976" "180047976" "subst" "0.000417673" "02330" "FLT4_000152" "g.180047976C>T" "" "" "" "FLT4(NM_182925.5):c.2199G>A (p.L733=, p.(Leu733=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802056" "0" "10" "5" "180048214" "180048214" "subst" "0.000531144" "02330" "FLT4_000153" "g.180048214G>C" "" "" "" "FLT4(NM_182925.5):c.2059C>G (p.L687V, p.(Leu687Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802057" "0" "10" "5" "180048651" "180048651" "subst" "0.000568271" "02330" "FLT4_000154" "g.180048651G>C" "" "" "" "FLT4(NM_182925.5):c.1911C>G (p.S637R, p.(Ser637Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802058" "0" "50" "5" "180056787" "180056787" "subst" "0" "01943" "FLT4_000155" "g.180056787A>T" "" "" "" "FLT4(NM_182925.4):c.725T>A (p.L242Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859898" "0" "30" "5" "180041189" "180041189" "subst" "0.000213405" "02330" "FLT4_000156" "g.180041189C>A" "" "" "" "FLT4(NM_182925.5):c.3220-10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859899" "0" "30" "5" "180055947" "180055947" "subst" "0.000302552" "01943" "FLT4_000094" "g.180055947C>T" "" "" "" "FLT4(NM_182925.4):c.1038G>A (p.T346=), FLT4(NM_182925.5):c.1038G>A (p.T346=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859900" "0" "30" "5" "180076513" "180076513" "subst" "0" "01943" "FLT4_000157" "g.180076513C>T" "" "" "" "FLT4(NM_182925.4):c.33G>A (p.L11=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886785" "0" "30" "5" "180043441" "180043441" "subst" "0.000430614" "02326" "FLT4_000158" "g.180043441C>T" "" "" "" "FLT4(NM_182925.5):c.3145G>A (p.D1049N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886786" "0" "50" "5" "180047960" "180047960" "subst" "4.16767E-6" "02325" "FLT4_000159" "g.180047960G>T" "" "" "" "FLT4(NM_182925.5):c.2215C>A (p.R739S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886787" "0" "70" "5" "180048182" "180048182" "dup" "0" "02327" "FLT4_000160" "g.180048182dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000912303" "0" "90" "5" "180043465" "180043465" "subst" "0" "02330" "FLT4_000010" "g.180043465G>A" "" "" "" "FLT4(NM_182925.5):c.3121C>T (p.R1041W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000912304" "0" "90" "5" "180043465" "180043465" "subst" "0" "02325" "FLT4_000010" "g.180043465G>A" "" "" "" "FLT4(NM_182925.5):c.3121C>T (p.R1041W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000912305" "0" "90" "5" "180046274" "180046274" "subst" "0" "02327" "FLT4_000042" "g.180046274C>G" "" "" "" "FLT4(NM_182925.5):c.2740G>C (p.G914R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000912306" "0" "10" "5" "180047754" "180047757" "dup" "0" "02325" "FLT4_000161" "g.180047754_180047757dup" "" "" "" "FLT4(NM_182925.5):c.2300-28_2300-25dupACAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912307" "0" "10" "5" "180048056" "180048056" "subst" "0.23093" "02325" "FLT4_000162" "g.180048056C>T" "" "" "" "FLT4(NM_182925.5):c.2168-49G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912308" "0" "10" "5" "180053307" "180053307" "subst" "0.984661" "02325" "FLT4_000163" "g.180053307A>G" "" "" "" "FLT4(NM_182925.5):c.1104-42T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912309" "0" "10" "5" "180056044" "180056044" "subst" "0.296676" "02325" "FLT4_000164" "g.180056044G>A" "" "" "" "FLT4(NM_182925.5):c.986-45C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948541" "0" "30" "5" "180045820" "180045820" "subst" "0.000128866" "02325" "FLT4_000131" "g.180045820C>T" "" "" "" "FLT4(NM_182925.5):c.2951G>A (p.R984Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948542" "0" "50" "5" "180057584" "180057584" "subst" "0" "02326" "FLT4_000165" "g.180057584G>A" "" "" "" "FLT4(NM_182925.5):c.371C>T (p.T124M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963585" "0" "30" "5" "180076535" "180076535" "subst" "2.58325E-5" "02327" "FLT4_000166" "g.180076535C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976757" "0" "70" "5" "180046743" "180046743" "subst" "0" "02330" "FLT4_000064" "g.180046743C>G" "" "" "" "FLT4(NM_182925.5):c.2569G>C (p.G857R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000976758" "0" "50" "5" "180047659" "180047659" "subst" "0" "01804" "FLT4_000167" "g.180047659C>T" "" "" "" "FLT4(NM_182925.5):c.2356G>A (p.(Ala786Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976759" "0" "30" "5" "180051071" "180051071" "subst" "0.0040022" "01804" "FLT4_000168" "g.180051071C>T" "" "" "" "FLT4(NM_182925.5):c.1422-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976760" "0" "50" "5" "180053190" "180053190" "subst" "4.88834E-5" "01804" "FLT4_000169" "g.180053190G>C" "" "" "" "FLT4(NM_182925.5):c.1179C>G (p.(Ser393Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976761" "0" "50" "5" "180057702" "180057702" "subst" "4.07375E-5" "01804" "FLT4_000170" "g.180057702C>G" "" "" "" "FLT4(NM_182925.5):c.253G>C (p.(Glu85Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994963" "0" "30" "5" "180030262" "180030262" "subst" "1.22682E-5" "01804" "FLT4_000171" "g.180030262G>A" "" "" "" "FLT4(NM_182925.4):c.4022C>T (p.(Ser1341Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994964" "0" "30" "5" "180030308" "180030308" "subst" "4.12831E-6" "01804" "FLT4_000172" "g.180030308C>G" "" "" "" "FLT4(NM_182925.4):c.3976G>C (p.(Ala1326Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994965" "0" "50" "5" "180030329" "180030331" "del" "0" "01804" "FLT4_000173" "g.180030329_180030331del" "" "" "" "FLT4(NM_182925.4):c.3962_3964delGGC (p.(Arg1321del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994966" "0" "50" "5" "180035995" "180035995" "subst" "0" "01804" "FLT4_000174" "g.180035995C>G" "" "" "" "FLT4(NM_182925.4):c.3866G>C (p.(Ser1289Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994967" "0" "30" "5" "180036959" "180036959" "subst" "3.65812E-5" "01804" "FLT4_000175" "g.180036959C>A" "" "" "" "FLT4(NM_182925.4):c.3753G>T (p.(Arg1251Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994968" "0" "30" "5" "180045802" "180045802" "subst" "3.02935E-5" "01804" "FLT4_000176" "g.180045802C>T" "" "" "" "FLT4(NM_182925.4):c.2969G>A (p.(Gly990Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994969" "0" "70" "5" "180046737" "180046737" "subst" "0" "01804" "FLT4_000122" "g.180046737C>G" "" "" "" "FLT4(NM_182925.4):c.2575G>C (p.(Val859Leu)), FLT4(NM_182925.5):c.2575G>C (p.V859L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000994970" "0" "50" "5" "180047241" "180047241" "subst" "0" "01804" "FLT4_000177" "g.180047241T>C" "" "" "" "FLT4(NM_182925.4):c.2474A>G (p.(Glu825Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994971" "0" "30" "5" "180047995" "180047995" "subst" "2.88779E-5" "01804" "FLT4_000178" "g.180047995G>A" "" "" "" "FLT4(NM_182925.4):c.2180C>T (p.(Ala727Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994972" "0" "30" "5" "180048169" "180048169" "subst" "4.10199E-5" "01804" "FLT4_000179" "g.180048169C>A" "" "" "" "FLT4(NM_182925.4):c.2104G>T (p.(Ala702Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994973" "0" "30" "5" "180048641" "180048641" "subst" "0.00380749" "01804" "FLT4_000084" "g.180048641G>A" "" "" "" "FLT4(NM_182925.4):c.1921C>T (p.P641S, p.(Pro641Ser)), FLT4(NM_182925.5):c.1921C>T (p.P641S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994974" "0" "50" "5" "180048658" "180048658" "subst" "4.14814E-6" "01804" "FLT4_000180" "g.180048658G>C" "" "" "" "FLT4(NM_182925.4):c.1904C>G (p.(Thr635Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994975" "0" "50" "5" "180049754" "180049754" "subst" "1.2203E-5" "01804" "FLT4_000181" "g.180049754C>T" "" "" "" "FLT4(NM_182925.4):c.1634G>A (p.(Arg545Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994976" "0" "30" "5" "180051002" "180051002" "subst" "3.66259E-5" "01804" "FLT4_000135" "g.180051002G>A" "" "" "" "FLT4(NM_182925.4):c.1481C>T (p.T494M, p.(Thr494Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994977" "0" "50" "5" "180051024" "180051024" "subst" "1.22193E-5" "01804" "FLT4_000182" "g.180051024G>A" "" "" "" "FLT4(NM_182925.4):c.1459C>T (p.(Arg487Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994978" "0" "50" "5" "180052909" "180052909" "subst" "4.11485E-6" "02327" "FLT4_000183" "g.180052909G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994979" "0" "50" "5" "180053195" "180053195" "subst" "8.14671E-6" "01804" "FLT4_000184" "g.180053195C>T" "" "" "" "FLT4(NM_182925.4):c.1174G>A (p.(Ala392Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994980" "0" "50" "5" "180053236" "180053236" "subst" "0" "01804" "FLT4_000185" "g.180053236C>G" "" "" "" "FLT4(NM_182925.4):c.1133G>C (p.(Arg378Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994981" "0" "30" "5" "180055937" "180055937" "subst" "1.63842E-5" "01804" "FLT4_000186" "g.180055937C>T" "" "" "" "FLT4(NM_182925.4):c.1048G>A (p.(Glu350Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994982" "0" "50" "5" "180056420" "180056420" "subst" "2.87493E-5" "01804" "FLT4_000187" "g.180056420C>T" "" "" "" "FLT4(NM_182925.4):c.824G>A (p.(Arg275Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994983" "0" "50" "5" "180057714" "180057714" "subst" "0" "01804" "FLT4_000188" "g.180057714C>T" "" "" "" "FLT4(NM_182925.4):c.241G>A (p.(Val81Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994984" "0" "30" "5" "180057729" "180057729" "subst" "0.00174084" "01804" "FLT4_000189" "g.180057729C>T" "" "" "" "FLT4(NM_182925.4):c.226G>A (p.(Glu76Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001007513" "0" "70" "5" "180055915" "180055915" "subst" "8.19028E-6" "00006" "FLT4_000191" "g.180055915T>A" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs1167847494" "0" "" "" "g.180628915T>A" "" "VUS" "" "0001007558" "0" "70" "5" "180046769" "180046769" "subst" "1.25551E-5" "00006" "FLT4_000190" "g.180046769C>T" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs368752216" "0" "" "" "g.180619769C>T" "" "VUS" "" "0001014118" "0" "70" "5" "180046043" "180046043" "subst" "0" "02329" "FLT4_000027" "g.180046043C>G" "" "" "" "FLT4(NM_182925.5):c.2828G>C (p.R943P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001035149" "0" "30" "5" "180030376" "180030376" "subst" "0.00328165" "01804" "FLT4_000068" "g.180030376C>G" "" "" "" "FLT4(NM_182925.5):c.3908G>C (p.G1303A, p.(Gly1303Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035150" "0" "30" "5" "180035167" "180035167" "subst" "0" "01804" "FLT4_000192" "g.180035167G>A" "" "" "" "FLT4(NM_001354989.2):c.3894-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035151" "0" "50" "5" "180038439" "180038439" "subst" "0" "01804" "FLT4_000193" "g.180038439C>A" "" "" "" "FLT4(NM_182925.5):c.3578G>T (p.(Ser1193Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035152" "0" "30" "5" "180038485" "180038485" "subst" "1.22847E-5" "01804" "FLT4_000194" "g.180038485G>A" "" "" "" "FLT4(NM_182925.5):c.3538-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035153" "0" "70" "5" "180041124" "180041124" "subst" "0" "02327" "FLT4_000195" "g.180041124G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001035154" "0" "30" "5" "180041189" "180041189" "subst" "0.000213405" "01804" "FLT4_000156" "g.180041189C>A" "" "" "" "FLT4(NM_182925.5):c.3220-10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035155" "0" "50" "5" "180043398" "180043398" "subst" "0" "01804" "FLT4_000196" "g.180043398T>C" "" "" "" "FLT4(NM_182925.5):c.3188A>G (p.(Tyr1063Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035156" "0" "30" "5" "180043439" "180043439" "subst" "0.00316865" "01804" "FLT4_000112" "g.180043439G>A" "" "" "" "FLT4(NM_182925.5):c.3147C>T (p.D1049=, p.(Asp1049=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035157" "0" "30" "5" "180047976" "180047976" "subst" "0.000417673" "01804" "FLT4_000152" "g.180047976C>T" "" "" "" "FLT4(NM_182925.5):c.2199G>A (p.L733=, p.(Leu733=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035158" "0" "30" "5" "180048214" "180048214" "subst" "0.000531144" "01804" "FLT4_000153" "g.180048214G>C" "" "" "" "FLT4(NM_182925.5):c.2059C>G (p.L687V, p.(Leu687Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035159" "0" "30" "5" "180048651" "180048651" "subst" "0.000568271" "01804" "FLT4_000154" "g.180048651G>C" "" "" "" "FLT4(NM_182925.5):c.1911C>G (p.S637R, p.(Ser637Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035160" "0" "30" "5" "180052946" "180052946" "subst" "0.0313836" "01804" "FLT4_000089" "g.180052946G>A" "" "" "" "FLT4(NM_182925.5):c.1344C>T (p.Y448=, p.(Tyr448=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035161" "0" "30" "5" "180057303" "180057303" "subst" "7.76817E-5" "01804" "FLT4_000197" "g.180057303C>T" "" "" "" "FLT4(NM_182925.5):c.435G>A (p.(Thr145=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035162" "0" "90" "5" "180057338" "180057338" "subst" "0" "02326" "FLT4_000198" "g.180057338C>G" "" "" "" "FLT4(NM_182925.5):c.401-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001035163" "0" "30" "5" "180058761" "180058761" "subst" "0.00163864" "01804" "FLT4_000129" "g.180058761A>C" "" "" "" "FLT4(NM_182925.4):c.76T>G (p.S26A), FLT4(NM_182925.5):c.76T>G (p.S26A, p.(Ser26Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes FLT4 ## Count = 290 "{{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}}" "0000085160" "00024081" "90" "3341" "0" "3341" "0" "c.3341C>T" "r.(?)" "p.(Pro1114Leu)" "25" "0000085161" "00024081" "90" "2569" "0" "2569" "0" "c.2569G>A" "r.(?)" "p.(Gly857Arg)" "18" "0000085162" "00024081" "90" "3122" "0" "3122" "0" "c.3122G>C" "r.(?)" "p.(Arg1041Pro)" "23" "0000085163" "00024081" "90" "3131" "0" "3131" "0" "c.3131T>C" "r.(?)" "p.(Leu1044Pro)" "23" "0000085164" "00024081" "90" "3104" "0" "3104" "0" "c.3104A>G" "r.(?)" "p.(His1035Arg)" "23" "0000085165" "00024081" "90" "2560" "0" "2560" "0" "c.2560G>A" "r.(?)" "p.(Gly854Ser)" "18" "0000085166" "00024081" "90" "2743" "0" "2743" "0" "c.2743G>C" "r.(?)" "p.(Ala915Pro)" "19" "0000085167" "00024081" "90" "2748" "0" "2748" "0" "c.2748C>G" "r.(?)" "p.(Cys916Trp)" "19" "0000085168" "00024081" "90" "2797" "0" "2797" "0" "c.2797G>C" "r.(?)" "p.(Gly933Arg)" "20" "0000085169" "00024081" "90" "3121" "0" "3121" "0" "c.3121C>T" "r.(?)" "p.(Arg1041Trp)" "23" "0000085170" "00024081" "90" "3122" "0" "3122" "0" "c.3122G>A" "r.(?)" "p.(Arg1041Gln)" "23" "0000085171" "00024081" "90" "3323" "0" "3325" "0" "c.3323_3325del" "r.(?)" "p.(Phe1108del)" "24" "0000085172" "00024081" "90" "3410" "0" "3410" "0" "c.3410C>T" "r.(?)" "p.(Pro1137Leu)" "25" "0000085173" "00024081" "90" "3316" "0" "3316" "0" "c.3316G>A" "r.(?)" "p.(Glu1106Lys)" "24" "0000085174" "00024081" "90" "2632" "0" "2632" "0" "c.2632G>A" "r.(?)" "p.(Val878Met)" "18" "0000085175" "00024081" "90" "3105" "0" "3105" "0" "c.3105C>G" "r.(?)" "p.(His1035Gln)" "23" "0000085176" "00024081" "90" "3257" "0" "3257" "0" "c.3257T>C" "r.(?)" "p.(Ile1086Thr)" "24" "0000085177" "00024081" "90" "2737" "0" "2739" "0" "c.2737_2739delCCT" "r.(?)" "p.(Leu913del)" "19" "0000085178" "00024081" "90" "3059" "0" "3059" "0" "c.3059A>T" "r.(?)" "p.(Gln1020Leu)" "22" "0000085179" "00024081" "90" "3164" "0" "3164" "0" "c.3164A>T" "r.(?)" "p.(Asp1055Val)" "23" "0000085180" "00024081" "90" "2542" "2" "2542" "2" "c.2542+2del" "r.spl?" "p.?" "17i" "0000085181" "00024081" "90" "2629" "0" "2629" "0" "c.2629G>A" "r.(?)" "p.(Ala877Thr)" "18" "0000085182" "00024081" "90" "2531" "0" "2531" "0" "c.2531G>C" "r.(?)" "p.(Arg844Pro)" "17" "0000085183" "00024081" "90" "2554" "0" "2554" "0" "c.2554G>A" "r.(?)" "p.(Gly852Ser)" "18" "0000085184" "00024081" "90" "2554" "0" "2554" "0" "c.2554G>C" "r.(?)" "p.(Gly852Arg)" "18" "0000085185" "00024081" "90" "2560" "0" "2560" "0" "c.2560G>C" "r.(?)" "p.(Gly854Arg)" "18" "0000085186" "00024081" "90" "2828" "0" "2828" "0" "c.2828G>C" "r.(?)" "p.(Arg943Pro)" "20" "0000085187" "00024081" "90" "3070" "0" "3070" "0" "c.3070G>A" "r.(?)" "p.(Gly1024Arg)" "22" "0000085188" "00024081" "90" "3071" "0" "3071" "0" "c.3071G>A" "r.(?)" "p.(Gly1024Glu)" "22" "0000085189" "00024081" "90" "3109" "0" "3109" "0" "c.3109G>C" "r.(?)" "p.(Asp1037His)" "23" "0000085190" "00024081" "90" "3109" "0" "3109" "0" "c.3109G>T" "r.(?)" "p.(Asp1037Tyr)" "23" "0000085191" "00024081" "90" "3125" "0" "3125" "0" "c.3125A>G" "r.(?)" "p.(Asn1042Ser)" "23" "0000085192" "00024081" "90" "3151" "0" "3151" "0" "c.3151G>A" "r.(?)" "p.(Val1051Met)" "23" "0000085193" "00024081" "90" "3164" "0" "3164" "0" "c.3164A>C" "r.(?)" "p.(Asp1055Ala)" "23" "0000085194" "00024081" "90" "3344" "0" "3344" "0" "c.3344A>G" "r.(?)" "p.(Tyr1115Cys)" "25" "0000085195" "00024081" "90" "3391" "0" "3391" "0" "c.3391G>C" "r.(?)" "p.(Gly1131Arg)" "25" "0000085196" "00024081" "90" "2563" "0" "2563" "0" "c.2563G>A" "r.(?)" "p.(Ala855Thr)" "18" "0000085197" "00024081" "90" "2677" "0" "2677" "0" "c.2677C>G" "r.(?)" "p.(Leu893Val)" "19" "0000085736" "00024081" "90" "2560" "0" "2560" "0" "c.2560G>A" "r.(?)" "p.(Gly854Ser)" "18" "0000085737" "00024081" "90" "2569" "0" "2569" "0" "c.2569G>A" "r.(?)" "p.(Gly857Arg)" "18" "0000085738" "00024081" "97" "2569" "0" "2569" "0" "c.2569G>A" "r.(?)" "p.(Gly857Arg)" "18" "0000085739" "00024081" "90" "2797" "0" "2797" "0" "c.2797G>C" "r.(?)" "p.(Gly933Arg)" "20" "0000085740" "00024081" "90" "2797" "0" "2797" "0" "c.2797G>C" "r.(?)" "p.(Gly933Arg)" "20" "0000085741" "00024081" "90" "3071" "0" "3071" "0" "c.3071G>A" "r.(?)" "p.(Gly1024Glu)" "22" "0000085742" "00024081" "90" "3109" "0" "3109" "0" "c.3109G>C" "r.(?)" "p.(Asp1037His)" "23" "0000085743" "00024081" "90" "3121" "0" "3121" "0" "c.3121C>T" "r.(?)" "p.(Arg1041Trp)" "23" "0000085744" "00024081" "90" "3122" "0" "3122" "0" "c.3122G>A" "r.(?)" "p.(Arg1041Gln)" "23" "0000085745" "00024081" "90" "3122" "0" "3122" "0" "c.3122G>A" "r.(?)" "p.(Arg1041Gln)" "23" "0000085746" "00024081" "90" "3323" "0" "3325" "0" "c.3323_3325del" "r.(?)" "p.(Phe1108del)" "24" "0000085747" "00024081" "90" "3323" "0" "3325" "0" "c.3323_3325del" "r.(?)" "p.(Phe1108del)" "24" "0000085748" "00024081" "90" "3410" "0" "3410" "0" "c.3410C>T" "r.(?)" "p.(Pro1137Leu)" "25" "0000085749" "00024081" "90" "2797" "0" "2797" "0" "c.2797G>C" "r.(?)" "p.(Gly933Arg)" "20" "0000085750" "00024081" "90" "2554" "0" "2554" "0" "c.2554G>C" "r.(?)" "p.(Gly852Arg)" "18" "0000085751" "00024081" "90" "2554" "0" "2554" "0" "c.2554G>A" "r.(?)" "p.(Gly852Ser)" "18" "0000085752" "00024081" "90" "2554" "0" "2554" "0" "c.2554G>A" "r.(?)" "p.(Gly852Ser)" "18" "0000085753" "00024081" "90" "2554" "0" "2554" "0" "c.2554G>A" "r.(?)" "p.(Gly852Ser)" "18" "0000085754" "00024081" "90" "2560" "0" "2560" "0" "c.2560G>C" "r.(?)" "p.(Gly854Arg)" "18" "0000085755" "00024081" "90" "2569" "0" "2569" "0" "c.2569G>A" "r.(?)" "p.(Gly857Arg)" "18" "0000085756" "00024081" "90" "2797" "0" "2797" "0" "c.2797G>C" "r.(?)" "p.(Gly933Arg)" "20" "0000085757" "00024081" "90" "2828" "0" "2828" "0" "c.2828G>C" "r.(?)" "p.(Arg943Pro)" "20" "0000085758" "00024081" "90" "2828" "0" "2828" "0" "c.2828G>C" "r.(?)" "p.(Arg943Pro)" "20" "0000085759" "00024081" "90" "3104" "0" "3104" "0" "c.3104A>G" "r.(?)" "p.(His1035Arg)" "23" "0000085760" "00024081" "90" "3109" "0" "3109" "0" "c.3109G>C" "r.(?)" "p.(Asp1037His)" "23" "0000085761" "00024081" "90" "3122" "0" "3122" "0" "c.3122G>C" "r.(?)" "p.(Arg1041Pro)" "23" "0000085762" "00024081" "90" "3122" "0" "3122" "0" "c.3122G>C" "r.(?)" "p.(Arg1041Pro)" "23" "0000085763" "00024081" "90" "3323" "0" "3325" "0" "c.3323_3325del" "r.(?)" "p.(Phe1108del)" "24" "0000085764" "00024081" "90" "3323" "0" "3325" "0" "c.3323_3325del" "r.(?)" "p.(Phe1108del)" "24" "0000085765" "00024081" "90" "3323" "0" "3325" "0" "c.3323_3325del" "r.(?)" "p.(Phe1108del)" "24" "0000085766" "00024081" "90" "3391" "0" "3391" "0" "c.3391G>C" "r.(?)" "p.(Gly1131Arg)" "25" "0000085767" "00024081" "90" "3391" "0" "3391" "0" "c.3391G>C" "r.(?)" "p.(Gly1131Arg)" "25" "0000085768" "00024081" "90" "3391" "0" "3391" "0" "c.3391G>C" "r.(?)" "p.(Gly1131Arg)" "25" "0000085769" "00024081" "90" "2555" "0" "2555" "0" "c.2555G>T" "r.(?)" "p.(Gly852Val)" "18" "0000085770" "00024081" "35" "3433" "0" "3433" "0" "c.3433C>T" "r.(?)" "p.(Arg1145Cys)" "26" "0000085771" "00024081" "90" "2740" "0" "2740" "0" "c.2740G>C" "r.(?)" "p.(Gly914Arg)" "19" "0000085772" "00024081" "90" "2740" "0" "2740" "0" "c.2740G>C" "r.(?)" "p.(Gly914Arg)" "19" "0000085773" "00024081" "90" "2744" "0" "2744" "0" "c.2744C>A" "r.(?)" "p.(Ala915Glu)" "19" "0000085774" "00024081" "90" "2749" "0" "2749" "0" "c.2749A>C" "r.(?)" "p.(Thr917Pro)" "19" "0000085775" "00024081" "90" "2800" "0" "2800" "0" "c.2800A>T" "r.(?)" "p.(Asn934Tyr)" "20" "0000085776" "00024081" "90" "3054" "0" "3054" "0" "c.3054C>A" "r.(?)" "p.(Ser1018Arg)" "22" "0000085777" "00024081" "90" "3056" "0" "3056" "0" "c.3056T>C" "r.(?)" "p.(Phe1019Ser)" "22" "0000085778" "00024081" "90" "3075" "0" "3075" "0" "c.3075G>A" "r.(?)" "p.(Met1025Ile)" "22" "0000085779" "00024081" "90" "3097" "0" "3097" "0" "c.3097T>G" "r.(?)" "p.(Cys1033Gly)" "23" "0000085780" "00024081" "90" "3111" "0" "3111" "0" "c.3111C>A" "r.(?)" "p.(Asp1037Glu)" "23" "0000085781" "00024081" "90" "3119" "0" "3119" "0" "c.3119C>A" "r.(?)" "p.(Ala1040Asp)" "23" "0000085782" "00024081" "90" "3119" "0" "3119" "0" "c.3119C>A" "r.(?)" "p.(Ala1040Asp)" "23" "0000085783" "00024081" "90" "3122" "0" "3122" "0" "c.3122G>A" "r.(?)" "p.(Arg1041Gln)" "23" "0000085784" "00024081" "90" "3157" "0" "3157" "0" "c.3157A>T" "r.(?)" "p.(Ile1053Phe)" "23" "0000085785" "00024081" "90" "3170" "0" "3170" "0" "c.3170G>A" "r.(?)" "p.(Gly1057Asp)" "23" "0000085786" "00024081" "90" "3250" "0" "3250" "0" "c.3250G>A" "r.(?)" "p.(Glu1084Lys)" "24" "0000085787" "00024081" "90" "3250" "0" "3250" "0" "c.3250G>A" "r.(?)" "p.(Glu1084Lys)" "24" "0000085788" "00024081" "90" "3308" "0" "3308" "0" "c.3308T>C" "r.(?)" "p.(Leu1103Pro)" "24" "0000085789" "00024081" "90" "3310" "0" "3310" "0" "c.3310C>T" "r.(?)" "p.(Leu1104Phe)" "24" "0000085790" "00024081" "90" "3318" "0" "3318" "0" "c.3318G>T" "r.(?)" "p.(Glu1106Asp)" "24" "0000085791" "00024081" "90" "3323" "0" "3323" "0" "c.3323T>C" "r.(?)" "p.(Phe1108Ser)" "24" "0000085936" "00024081" "55" "2569" "0" "2569" "0" "c.2569G>C" "r.(?)" "p.Gly857Arg" "18" "0000085937" "00024081" "55" "2797" "0" "2797" "0" "c.2797G>C" "r.(?)" "p.(Gly933Arg)" "20" "0000085938" "00024081" "55" "3121" "0" "3121" "0" "c.3121C>T" "r.(?)" "p.(Arg1041Trp)" "23" "0000085939" "00024081" "55" "3121" "0" "3121" "0" "c.3121C>T" "r.(?)" "p.(Arg1041Trp)" "23" "0000085942" "00024081" "55" "3341" "0" "3341" "0" "c.3341C>T" "r.(?)" "p.(Pro1114Leu)" "25" "0000086026" "00024081" "90" "2680" "0" "2682" "0" "c.2680_2682del" "r.(?)" "p.(Met894del)" "19" "0000244115" "00024081" "50" "1985" "0" "1985" "0" "c.1985A>T" "r.(1985a>u)" "p.(Asp662Val)" "13" "0000244116" "00024081" "50" "3908" "0" "3908" "0" "c.3908G>C" "r.(3980g>c)" "p.(Gly1303Ala)" "30" "0000276820" "00024081" "10" "1038" "0" "1038" "0" "c.1038G>A" "r.(?)" "p.(Thr346=)" "" "0000276821" "00024081" "10" "1103" "18" "1103" "18" "c.1103+18C>T" "r.(=)" "p.(=)" "" "0000276822" "00024081" "10" "1103" "20" "1103" "20" "c.1103+20A>C" "r.(=)" "p.(=)" "" "0000276823" "00024081" "10" "1103" "20" "1103" "20" "c.1103+20A>G" "r.(=)" "p.(=)" "" "0000276824" "00024081" "10" "1258" "14" "1258" "14" "c.1258+14G>A" "r.(=)" "p.(=)" "" "0000276825" "00024081" "10" "1344" "0" "1344" "0" "c.1344C>T" "r.(?)" "p.(Tyr448=)" "" "0000276826" "00024081" "10" "1421" "19" "1421" "37" "c.1421+19_1421+37del" "r.(=)" "p.(=)" "" "0000276827" "00024081" "50" "1429" "0" "1429" "0" "c.1429C>T" "r.(?)" "p.(Arg477Trp)" "" "0000276828" "00024081" "10" "1480" "0" "1480" "0" "c.1480A>G" "r.(?)" "p.(Thr494Ala)" "" "0000276829" "00024081" "10" "1580" "0" "1580" "0" "c.1580A>G" "r.(?)" "p.(Asn527Ser)" "" "0000276830" "00024081" "30" "1921" "0" "1921" "0" "c.1921C>T" "r.(?)" "p.(Pro641Ser)" "" "0000276831" "00024081" "10" "2008" "0" "2008" "0" "c.2008C>T" "r.(?)" "p.(Leu670=)" "" "0000276832" "00024081" "10" "2299" "13" "2299" "13" "c.2299+13G>C" "r.(=)" "p.(=)" "" "0000276833" "00024081" "70" "2554" "0" "2554" "0" "c.2554G>A" "r.(?)" "p.(Gly852Ser)" "" "0000276834" "00024081" "70" "2632" "0" "2632" "0" "c.2632G>A" "r.(?)" "p.(Val878Met)" "" "0000276835" "00024081" "10" "2670" "0" "2670" "0" "c.2670C>G" "r.(?)" "p.(His890Gln)" "" "0000276836" "00024081" "90" "2740" "0" "2740" "0" "c.2740G>C" "r.(?)" "p.(Gly914Arg)" "" "0000276837" "00024081" "70" "2797" "0" "2797" "0" "c.2797G>T" "r.(?)" "p.(Gly933Cys)" "" "0000276838" "00024081" "70" "2828" "0" "2828" "0" "c.2828G>C" "r.(?)" "p.(Arg943Pro)" "" "0000276839" "00024081" "10" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Pro954Ser)" "" "0000276840" "00024081" "70" "3125" "0" "3125" "0" "c.3125A>G" "r.(?)" "p.(Asn1042Ser)" "" "0000276841" "00024081" "10" "3198" "0" "3198" "0" "c.3198C>T" "r.(?)" "p.(Pro1066=)" "" "0000276842" "00024081" "10" "3437" "0" "3437" "0" "c.3437G>A" "r.(?)" "p.(Arg1146His)" "" "0000276843" "00024081" "10" "3537" "14" "3537" "14" "c.3537+14C>G" "r.(=)" "p.(=)" "" "0000276844" "00024081" "10" "3681" "0" "3681" "0" "c.3681C>T" "r.(?)" "p.(Ala1227=)" "" "0000276845" "00024081" "10" "3962" "0" "3962" "0" "c.3962G>A" "r.(?)" "p.(Arg1321Gln)" "" "0000276846" "00024081" "10" "3971" "0" "3971" "0" "c.3971G>T" "r.(?)" "p.(Arg1324Leu)" "" "0000276847" "00024081" "10" "400" "17" "400" "17" "c.400+17G>A" "r.(=)" "p.(=)" "" "0000276848" "00024081" "10" "401" "-19" "401" "-19" "c.401-19G>C" "r.(=)" "p.(=)" "" "0000276849" "00024081" "10" "445" "0" "445" "0" "c.445A>G" "r.(?)" "p.(Asn149Asp)" "" "0000276850" "00024081" "10" "489" "0" "489" "0" "c.489C>T" "r.(?)" "p.(Pro163=)" "" "0000276851" "00024081" "30" "504" "0" "504" "0" "c.504G>A" "r.(?)" "p.(Thr168=)" "" "0000276852" "00024081" "30" "563" "0" "563" "0" "c.563G>A" "r.(?)" "p.(Arg188Gln)" "" "0000276853" "00024081" "10" "633" "0" "633" "0" "c.633A>G" "r.(?)" "p.(Gly211=)" "" "0000276854" "00024081" "10" "676" "18" "676" "18" "c.676+18C>T" "r.(=)" "p.(=)" "" "0000280835" "00024081" "10" "2299" "13" "2299" "13" "c.2299+13G>C" "r.(=)" "p.(=)" "" "0000280836" "00024081" "10" "2648" "-128" "2648" "-127" "c.2648-128_2648-127del" "r.(=)" "p.(=)" "" "0000280837" "00024081" "10" "2670" "0" "2670" "0" "c.2670C>G" "r.(?)" "p.(His890Gln)" "" "0000280838" "00024081" "10" "3198" "0" "3198" "0" "c.3198C>T" "r.(?)" "p.(Pro1066=)" "" "0000330788" "00024081" "50" "3460" "0" "3460" "0" "c.3460G>A" "r.(?)" "p.(Gly1154Arg)" "" "0000330789" "00024081" "50" "3220" "-35" "3220" "-2" "c.3220-35_3220-2del" "r.spl?" "p.?" "" "0000368691" "00024081" "97" "2647" "2" "2647" "2" "c.2647+2T>C" "r.spl" "p.?" "18i" "0000368692" "00024081" "97" "2554" "0" "2554" "0" "c.2554G>T" "r.(?)" "p.Gly852Cys" "18" "0000368693" "00024081" "97" "2554" "0" "2554" "0" "c.2554G>T" "r.(?)" "p.Gly852Cys" "18" "0000368694" "00024081" "97" "2626" "0" "2626" "0" "c.2626G>T" "r.(?)" "p.Val876Leu" "18" "0000368695" "00024081" "97" "2587" "0" "2587" "0" "c.2587T>C" "r.(?)" "p.(Ser863Pro)" "18" "0000368696" "00024081" "97" "2585" "0" "2585" "0" "c.2585C>T" "r.(?)" "p.(Ala862Val)" "18" "0000368697" "00024081" "97" "2819" "0" "2819" "0" "c.2819G>C" "r.(?)" "p.(Arg940Pro)" "20" "0000368698" "00024081" "97" "3121" "0" "3121" "0" "c.3121C>G" "r.(?)" "p.Arg1041Gly" "23" "0000368699" "00024081" "97" "3391" "0" "3391" "0" "c.3391G>A" "r.(?)" "p.Gly1131Ser" "25" "0000525435" "00024081" "30" "4063" "0" "4063" "0" "c.4063G>A" "r.(?)" "p.(Val1355Met)" "" "0000525436" "00024081" "30" "4063" "0" "4063" "0" "c.4063G>A" "r.(?)" "p.(Val1355Met)" "" "0000525438" "00024081" "30" "3971" "0" "3971" "0" "c.3971G>C" "r.(?)" "p.(Arg1324Pro)" "" "0000525439" "00024081" "30" "3962" "0" "3962" "0" "c.3962G>A" "r.(?)" "p.(Arg1321Gln)" "" "0000525440" "00024081" "10" "3959" "0" "3959" "0" "c.3959G>A" "r.(?)" "p.(Arg1320Gln)" "" "0000525441" "00024081" "10" "3908" "0" "3908" "0" "c.3908G>C" "r.(?)" "p.(Gly1303Ala)" "" "0000525442" "00024081" "10" "3437" "0" "3437" "0" "c.3437G>A" "r.(?)" "p.(Arg1146His)" "" "0000525443" "00024081" "50" "3401" "0" "3401" "0" "c.3401T>G" "r.(?)" "p.(Met1134Arg)" "" "0000525444" "00024081" "90" "3391" "0" "3391" "0" "c.3391G>C" "r.(?)" "p.(Gly1131Arg)" "" "0000525445" "00024081" "90" "3391" "0" "3391" "0" "c.3391G>C" "r.(?)" "p.(Gly1131Arg)" "" "0000525446" "00024081" "50" "3332" "-31" "3332" "-31" "c.3332-31C>G" "r.(=)" "p.(=)" "" "0000525447" "00024081" "50" "3302" "0" "3302" "0" "c.3302G>T" "r.(?)" "p.(Gly1101Val)" "" "0000525448" "00024081" "50" "3220" "-29" "3220" "-29" "c.3220-29A>G" "r.(=)" "p.(=)" "" "0000525449" "00024081" "10" "3198" "0" "3198" "0" "c.3198C>T" "r.(?)" "p.(Pro1066=)" "" "0000525450" "00024081" "50" "3179" "0" "3179" "0" "c.3179G>C" "r.(?)" "p.(Arg1060Pro)" "" "0000525451" "00024081" "10" "3147" "0" "3147" "0" "c.3147C>T" "r.(?)" "p.(Asp1049=)" "" "0000525452" "00024081" "50" "3122" "0" "3122" "0" "c.3122G>A" "r.(?)" "p.(Arg1041Gln)" "" "0000525453" "00024081" "70" "3121" "0" "3121" "0" "c.3121C>T" "r.(?)" "p.(Arg1041Trp)" "" "0000525454" "00024081" "50" "3070" "0" "3070" "0" "c.3070G>A" "r.(?)" "p.(Gly1024Arg)" "" "0000525455" "00024081" "50" "3023" "0" "3023" "0" "c.3023C>T" "r.(?)" "p.(Pro1008Leu)" "" "0000525456" "00024081" "30" "3018" "0" "3018" "0" "c.3018G>A" "r.(?)" "p.(Leu1006=)" "" "0000525457" "00024081" "50" "3001" "69" "3001" "70" "c.3001+69_3001+70insTAGGGTAACC" "r.(=)" "p.(=)" "" "0000525458" "00024081" "50" "3001" "31" "3001" "31" "c.3001+31T>G" "r.(=)" "p.(=)" "" "0000525459" "00024081" "30" "2989" "0" "2989" "0" "c.2989C>G" "r.(?)" "p.(Pro997Ala)" "" "0000525460" "00024081" "50" "2896" "0" "2896" "0" "c.2896C>G" "r.(?)" "p.(Leu966Val)" "" "0000525461" "00024081" "10" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Pro954Ser)" "" "0000525462" "00024081" "50" "2851" "0" "2853" "0" "c.2851_2853del" "r.(?)" "p.(Glu951del)" "" "0000525463" "00024081" "70" "2816" "0" "2816" "0" "c.2816T>G" "r.(?)" "p.(Leu939Arg)" "" "0000525464" "00024081" "70" "2802" "0" "2802" "0" "c.2802C>G" "r.(?)" "p.(Asn934Lys)" "" "0000525465" "00024081" "90" "2797" "0" "2797" "0" "c.2797G>C" "r.(?)" "p.(Gly933Arg)" "" "0000525466" "00024081" "70" "2575" "0" "2575" "0" "c.2575G>C" "r.(?)" "p.(Val859Leu)" "" "0000525467" "00024081" "50" "2554" "0" "2554" "0" "c.2554G>C" "r.(?)" "p.(Gly852Arg)" "" "0000525468" "00024081" "30" "2543" "-14" "2543" "-14" "c.2543-14C>T" "r.(=)" "p.(=)" "" "0000525470" "00024081" "10" "1049" "0" "1049" "0" "c.1049A>T" "r.(?)" "p.(Glu350Val)" "" "0000525471" "00024081" "30" "618" "0" "618" "0" "c.618C>T" "r.(?)" "p.(Cys206=)" "" "0000525472" "00024081" "10" "507" "0" "507" "0" "c.507G>T" "r.(?)" "p.(Leu169=)" "" "0000525473" "00024081" "30" "313" "0" "313" "0" "c.313G>A" "r.(?)" "p.(Asp105Asn)" "" "0000525474" "00024081" "10" "76" "0" "76" "0" "c.76T>G" "r.(?)" "p.(Ser26Ala)" "" "0000609660" "00024081" "30" "3971" "0" "3971" "0" "c.3971G>C" "r.(?)" "p.(Arg1324Pro)" "" "0000609661" "00024081" "70" "3156" "0" "3156" "0" "c.3156G>T" "r.(?)" "p.(Lys1052Asn)" "" "0000609662" "00024081" "30" "2863" "0" "2863" "0" "c.2863G>C" "r.(?)" "p.(Glu955Gln)" "" "0000609663" "00024081" "30" "2763" "0" "2763" "0" "c.2763C>G" "r.(?)" "p.(Gly921=)" "" "0000609664" "00024081" "30" "2112" "0" "2112" "0" "c.2112G>A" "r.(?)" "p.(Ala704=)" "" "0000609665" "00024081" "30" "1921" "0" "1921" "0" "c.1921C>T" "r.(?)" "p.(Pro641Ser)" "" "0000609666" "00024081" "10" "1921" "0" "1921" "0" "c.1921C>T" "r.(?)" "p.(Pro641Ser)" "" "0000609667" "00024081" "30" "1481" "0" "1481" "0" "c.1481C>T" "r.(?)" "p.(Thr494Met)" "" "0000609668" "00024081" "30" "1308" "0" "1308" "0" "c.1308G>A" "r.(?)" "p.(Ser436=)" "" "0000609669" "00024081" "30" "1088" "0" "1088" "0" "c.1088C>T" "r.(?)" "p.(Pro363Leu)" "" "0000609670" "00024081" "30" "577" "0" "577" "0" "c.577G>C" "r.(?)" "p.(Val193Leu)" "" "0000609671" "00024081" "30" "566" "0" "566" "0" "c.566G>A" "r.(?)" "p.(Arg189Gln)" "" "0000609672" "00024081" "30" "564" "0" "564" "0" "c.564G>A" "r.(?)" "p.(Arg188=)" "" "0000609673" "00024081" "50" "513" "5" "513" "5" "c.513+5G>A" "r.spl?" "p.?" "" "0000621553" "00024081" "30" "2951" "0" "2951" "0" "c.2951G>A" "r.(?)" "p.(Arg984Gln)" "" "0000621554" "00024081" "70" "89" "0" "89" "0" "c.89C>T" "r.(?)" "p.(Pro30Leu)" "" "0000630841" "00024081" "70" "3821" "0" "3821" "0" "c.3821A>T" "r.(?)" "p.(Asp1274Val)" "29" "0000651690" "00024081" "10" "3971" "0" "3971" "0" "c.3971G>T" "r.(?)" "p.(Arg1324Leu)" "" "0000651691" "00024081" "10" "677" "-28" "677" "-28" "c.677-28G>A" "r.(=)" "p.(=)" "" "0000655364" "00024081" "30" "2304" "0" "2304" "0" "c.2304C>G" "r.(?)" "p.(Ser768=)" "" "0000655365" "00024081" "30" "1921" "0" "1921" "0" "c.1921C>T" "r.(?)" "p.(Pro641Ser)" "" "0000655366" "00024081" "10" "76" "0" "76" "0" "c.76T>G" "r.(?)" "p.(Ser26Ala)" "" "0000669846" "00024081" "10" "3971" "0" "3971" "0" "c.3971G>T" "r.(?)" "p.(Arg1324Leu)" "" "0000669847" "00024081" "10" "677" "-28" "677" "-28" "c.677-28G>A" "r.(=)" "p.(=)" "" "0000677493" "00024081" "70" "2587" "0" "2587" "0" "c.2587T>C" "r.(?)" "p.(Ser863Pro)" "" "0000689498" "00024081" "50" "3023" "0" "3023" "0" "c.3023C>T" "r.(?)" "p.(Pro1008Leu)" "" "0000689499" "00024081" "30" "563" "0" "563" "0" "c.563G>A" "r.(?)" "p.(Arg188Gln)" "" "0000712655" "00024081" "50" "3908" "0" "3908" "0" "c.3908G>C" "r.(?)" "p.(Gly1303Ala)" "" "0000720382" "00024081" "30" "3363" "0" "3363" "0" "c.3363T>C" "r.(?)" "p.(Asn1121=)" "" "0000720383" "00024081" "70" "3250" "0" "3250" "0" "c.3250G>A" "r.(?)" "p.(Glu1084Lys)" "" "0000720384" "00024081" "50" "3179" "0" "3179" "0" "c.3179G>A" "r.(?)" "p.(Arg1060Gln)" "" "0000720385" "00024081" "70" "952" "0" "952" "0" "c.952C>T" "r.(?)" "p.(Arg318*)" "" "0000720386" "00024081" "30" "375" "0" "375" "0" "c.375C>T" "r.(?)" "p.(Ala125=)" "" "0000802053" "00024081" "30" "3681" "0" "3681" "0" "c.3681C>T" "r.(?)" "p.(Ala1227=)" "" "0000802054" "00024081" "30" "2658" "0" "2658" "0" "c.2658G>A" "r.(?)" "p.(Thr886=)" "" "0000802055" "00024081" "10" "2199" "0" "2199" "0" "c.2199G>A" "r.(?)" "p.(Leu733=)" "" "0000802056" "00024081" "10" "2059" "0" "2059" "0" "c.2059C>G" "r.(?)" "p.(Leu687Val)" "" "0000802057" "00024081" "10" "1911" "0" "1911" "0" "c.1911C>G" "r.(?)" "p.(Ser637Arg)" "" "0000802058" "00024081" "50" "725" "0" "725" "0" "c.725T>A" "r.(?)" "p.(Leu242Gln)" "" "0000859898" "00024081" "30" "3220" "-10" "3220" "-10" "c.3220-10G>T" "r.(=)" "p.(=)" "" "0000859899" "00024081" "30" "1038" "0" "1038" "0" "c.1038G>A" "r.(?)" "p.(Thr346=)" "" "0000859900" "00024081" "30" "33" "0" "33" "0" "c.33G>A" "r.(?)" "p.(Leu11=)" "" "0000886785" "00024081" "30" "3145" "0" "3145" "0" "c.3145G>A" "r.(?)" "p.(Asp1049Asn)" "" "0000886786" "00024081" "50" "2215" "0" "2215" "0" "c.2215C>A" "r.(?)" "p.(Arg739Ser)" "" "0000886787" "00024081" "70" "2091" "0" "2091" "0" "c.2091dup" "r.(?)" "p.(Gln698Alafs*74)" "" "0000912303" "00024081" "90" "3121" "0" "3121" "0" "c.3121C>T" "r.(?)" "p.(Arg1041Trp)" "" "0000912304" "00024081" "90" "3121" "0" "3121" "0" "c.3121C>T" "r.(?)" "p.(Arg1041Trp)" "" "0000912305" "00024081" "90" "2740" "0" "2740" "0" "c.2740G>C" "r.(?)" "p.(Gly914Arg)" "" "0000912306" "00024081" "10" "2300" "-28" "2300" "-25" "c.2300-28_2300-25dup" "r.(=)" "p.(=)" "" "0000912307" "00024081" "10" "2168" "-49" "2168" "-49" "c.2168-49G>A" "r.(=)" "p.(=)" "" "0000912308" "00024081" "10" "1104" "-42" "1104" "-42" "c.1104-42T>C" "r.(=)" "p.(=)" "" "0000912309" "00024081" "10" "986" "-45" "986" "-45" "c.986-45C>T" "r.(=)" "p.(=)" "" "0000948541" "00024081" "30" "2951" "0" "2951" "0" "c.2951G>A" "r.(?)" "p.(Arg984Gln)" "" "0000948542" "00024081" "50" "371" "0" "371" "0" "c.371C>T" "r.(?)" "p.(Thr124Met)" "" "0000963585" "00024081" "30" "11" "0" "11" "0" "c.11G>C" "r.(?)" "p.(Gly4Ala)" "" "0000976757" "00024081" "70" "2569" "0" "2569" "0" "c.2569G>C" "r.(?)" "p.(Gly857Arg)" "" "0000976758" "00024081" "50" "2356" "0" "2356" "0" "c.2356G>A" "r.(?)" "p.(Ala786Thr)" "" "0000976759" "00024081" "30" "1422" "-10" "1422" "-10" "c.1422-10G>A" "r.(=)" "p.(=)" "" "0000976760" "00024081" "50" "1179" "0" "1179" "0" "c.1179C>G" "r.(?)" "p.(Ser393Arg)" "" "0000976761" "00024081" "50" "253" "0" "253" "0" "c.253G>C" "r.(?)" "p.(Glu85Gln)" "" "0000994963" "00024081" "30" "4022" "0" "4022" "0" "c.4022C>T" "r.(?)" "p.(Ser1341Leu)" "" "0000994964" "00024081" "30" "3976" "0" "3976" "0" "c.3976G>C" "r.(?)" "p.(Ala1326Pro)" "" "0000994965" "00024081" "50" "3962" "0" "3964" "0" "c.3962_3964del" "r.(?)" "p.(Arg1321del)" "" "0000994966" "00024081" "50" "3866" "0" "3866" "0" "c.3866G>C" "r.(?)" "p.(Ser1289Thr)" "" "0000994967" "00024081" "30" "3753" "0" "3753" "0" "c.3753G>T" "r.(?)" "p.(Arg1251Ser)" "" "0000994968" "00024081" "30" "2969" "0" "2969" "0" "c.2969G>A" "r.(?)" "p.(Gly990Asp)" "" "0000994969" "00024081" "70" "2575" "0" "2575" "0" "c.2575G>C" "r.(?)" "p.(Val859Leu)" "" "0000994970" "00024081" "50" "2474" "0" "2474" "0" "c.2474A>G" "r.(?)" "p.(Glu825Gly)" "" "0000994971" "00024081" "30" "2180" "0" "2180" "0" "c.2180C>T" "r.(?)" "p.(Ala727Val)" "" "0000994972" "00024081" "30" "2104" "0" "2104" "0" "c.2104G>T" "r.(?)" "p.(Ala702Ser)" "" "0000994973" "00024081" "30" "1921" "0" "1921" "0" "c.1921C>T" "r.(?)" "p.(Pro641Ser)" "" "0000994974" "00024081" "50" "1904" "0" "1904" "0" "c.1904C>G" "r.(?)" "p.(Thr635Arg)" "" "0000994975" "00024081" "50" "1634" "0" "1634" "0" "c.1634G>A" "r.(?)" "p.(Arg545Gln)" "" "0000994976" "00024081" "30" "1481" "0" "1481" "0" "c.1481C>T" "r.(?)" "p.(Thr494Met)" "" "0000994977" "00024081" "50" "1459" "0" "1459" "0" "c.1459C>T" "r.(?)" "p.(Arg487Cys)" "" "0000994978" "00024081" "50" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Arg461Trp)" "" "0000994979" "00024081" "50" "1174" "0" "1174" "0" "c.1174G>A" "r.(?)" "p.(Ala392Thr)" "" "0000994980" "00024081" "50" "1133" "0" "1133" "0" "c.1133G>C" "r.(?)" "p.(Arg378Pro)" "" "0000994981" "00024081" "30" "1048" "0" "1048" "0" "c.1048G>A" "r.(?)" "p.(Glu350Lys)" "" "0000994982" "00024081" "50" "824" "0" "824" "0" "c.824G>A" "r.(?)" "p.(Arg275Gln)" "" "0000994983" "00024081" "50" "241" "0" "241" "0" "c.241G>A" "r.(?)" "p.(Val81Met)" "" "0000994984" "00024081" "30" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Glu76Lys)" "" "0001007513" "00024081" "70" "1070" "0" "1070" "0" "c.1070A>T" "r.(?)" "p.(Lys357Met)" "" "0001007558" "00024081" "70" "2543" "0" "2543" "0" "c.2543G>A" "r.(?)" "p.(Gly848Glu)" "" "0001014118" "00024081" "70" "2828" "0" "2828" "0" "c.2828G>C" "r.(?)" "p.(Arg943Pro)" "" "0001035149" "00024081" "30" "3908" "0" "3908" "0" "c.3908G>C" "r.(?)" "p.(Gly1303Ala)" "" "0001035150" "00024081" "30" "3893" "801" "3893" "801" "c.3893+801C>T" "r.(=)" "p.(=)" "" "0001035151" "00024081" "50" "3578" "0" "3578" "0" "c.3578G>T" "r.(?)" "p.(Ser1193Ile)" "" "0001035152" "00024081" "30" "3538" "-6" "3538" "-6" "c.3538-6C>T" "r.(=)" "p.(=)" "" "0001035153" "00024081" "70" "3275" "0" "3275" "0" "c.3275C>T" "r.(?)" "p.(Thr1092Ile)" "" "0001035154" "00024081" "30" "3220" "-10" "3220" "-10" "c.3220-10G>T" "r.(=)" "p.(=)" "" "0001035155" "00024081" "50" "3188" "0" "3188" "0" "c.3188A>G" "r.(?)" "p.(Tyr1063Cys)" "" "0001035156" "00024081" "30" "3147" "0" "3147" "0" "c.3147C>T" "r.(?)" "p.(Asp1049=)" "" "0001035157" "00024081" "30" "2199" "0" "2199" "0" "c.2199G>A" "r.(?)" "p.(Leu733=)" "" "0001035158" "00024081" "30" "2059" "0" "2059" "0" "c.2059C>G" "r.(?)" "p.(Leu687Val)" "" "0001035159" "00024081" "30" "1911" "0" "1911" "0" "c.1911C>G" "r.(?)" "p.(Ser637Arg)" "" "0001035160" "00024081" "30" "1344" "0" "1344" "0" "c.1344C>T" "r.(?)" "p.(Tyr448=)" "" "0001035161" "00024081" "30" "435" "0" "435" "0" "c.435G>A" "r.(?)" "p.(=)" "" "0001035162" "00024081" "90" "401" "-1" "401" "-1" "c.401-1G>C" "r.spl?" "p.?" "" "0001035163" "00024081" "30" "76" "0" "76" "0" "c.76T>G" "r.(?)" "p.(Ser26Ala)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 119 "{{screeningid}}" "{{variantid}}" "0000055139" "0000085160" "0000055140" "0000085161" "0000055141" "0000085162" "0000055142" "0000085163" "0000055143" "0000085164" "0000055144" "0000085165" "0000055145" "0000085166" "0000055146" "0000085167" "0000055147" "0000085168" "0000055148" "0000085169" "0000055149" "0000085170" "0000055150" "0000085171" "0000055151" "0000085172" "0000055152" "0000085173" "0000055153" "0000085174" "0000055154" "0000085175" "0000055155" "0000085176" "0000055156" "0000085177" "0000055157" "0000085178" "0000055158" "0000085179" "0000055159" "0000085180" "0000055160" "0000085181" "0000055161" "0000085182" "0000055162" "0000085183" "0000055163" "0000085184" "0000055164" "0000085185" "0000055165" "0000085186" "0000055166" "0000085187" "0000055167" "0000085188" "0000055168" "0000085189" "0000055169" "0000085190" "0000055170" "0000085191" "0000055171" "0000085192" "0000055172" "0000085193" "0000055173" "0000085194" "0000055174" "0000085195" "0000055175" "0000085196" "0000055176" "0000085197" "0000055721" "0000085736" "0000055722" "0000085737" "0000055723" "0000085738" "0000055724" "0000085739" "0000055725" "0000085740" "0000055726" "0000085741" "0000055727" "0000085742" "0000055728" "0000085743" "0000055729" "0000085744" "0000055730" "0000085745" "0000055731" "0000085746" "0000055732" "0000085747" "0000055733" "0000085748" "0000055734" "0000085749" "0000055735" "0000085750" "0000055736" "0000085751" "0000055737" "0000085752" "0000055738" "0000085753" "0000055739" "0000085754" "0000055740" "0000085755" "0000055741" "0000085756" "0000055742" "0000085757" "0000055743" "0000085758" "0000055744" "0000085759" "0000055745" "0000085760" "0000055746" "0000085761" "0000055747" "0000085762" "0000055748" "0000085763" "0000055749" "0000085764" "0000055750" "0000085765" "0000055751" "0000085766" "0000055752" "0000085767" "0000055753" "0000085768" "0000055754" "0000085769" "0000055755" "0000085770" "0000055755" "0000086026" "0000055756" "0000085771" "0000055757" "0000085772" "0000055758" "0000085773" "0000055759" "0000085774" "0000055760" "0000085775" "0000055761" "0000085776" "0000055762" "0000085777" "0000055763" "0000085778" "0000055764" "0000085779" "0000055765" "0000085780" "0000055766" "0000085781" "0000055767" "0000085782" "0000055768" "0000085783" "0000055769" "0000085784" "0000055770" "0000085785" "0000055771" "0000085786" "0000055772" "0000085787" "0000055773" "0000085788" "0000055774" "0000085789" "0000055775" "0000085790" "0000055776" "0000085791" "0000055921" "0000085936" "0000055922" "0000085937" "0000055923" "0000085938" "0000055924" "0000085939" "0000055927" "0000085942" "0000150968" "0000244115" "0000150969" "0000244116" "0000165075" "0000368691" "0000165076" "0000368692" "0000165077" "0000368693" "0000165078" "0000368694" "0000165079" "0000368695" "0000165080" "0000368696" "0000165081" "0000368697" "0000165082" "0000368698" "0000165083" "0000368699" "0000276712" "0000630841" "0000295001" "0000651690" "0000295002" "0000651691" "0000306158" "0000669846" "0000306159" "0000669847" "0000328676" "0000712655" "0000455394" "0001007558" "0000455406" "0001007513"