### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = VEGFC) # 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}}" "VEGFC" "vascular endothelial growth factor C" "4" "q34.3" "unknown" "NG_034216.1" "UD_132612649631" "" "https://www.LOVD.nl/VEGFC" "" "1" "12682" "7424" "601528" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/VEGFC_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-09-07 13:12:50" "00000" "2023-01-11 15:44:22" ## 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}}" "00022588" "VEGFC" "vascular endothelial growth factor C" "001" "NM_005429.2" "" "NP_005420.1" "" "" "" "-430" "1649" "1263" "177713895" "177604691" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00277" "DWFP" "dwarfism, primordial (DWFP)" "" "" "" "" "" "00006" "2013-11-22 16:21:08" "00006" "2015-12-07 07:11:25" "04128" "LMPHM4" "lymphatic malformation 4" "AD" "615907" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05327" "LMPH" "lymphedema (LMPH)" "IC" "" "" "" "" "00006" "2017-09-07 10:22:15" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "VEGFC" "04128" "VEGFC" "05327" ## Individuals ## Do not remove or alter this header ## ## Count = 16 "{{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}}" "00001618" "" "" "" "1" "" "00099" "{PMID:Balboa-Beltran 2014:24744435}" "4-generation family, 7 affecteds (6F, M)" "F" "no" "Spain" "" "0" "" "" "" "24744435-FamPatIV" "00004054" "" "" "" "4" "" "00549" "{PMID:Shaheen 2014:24389050}, {DOI:Shaheen 2014:10.1101/gr.160572.113}" "4-generation family, unaffected heterozygous carrier parents, deceased sister" "F" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00119069" "" "" "" "1" "" "00034" "{PMID:Gordon 2013:23410910}" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "Patient II:4" "00119070" "" "" "" "3" "" "00034" "" "" "F" "no" "Northern Ireland" "" "0" "" "" "" "II:1" "00361998" "" "" "" "1" "" "00000" "{PMID:Duvvari 2016:27007659}" "patient" "" "" "Netherlands" "" "0" "" "" "white" "Pat1AB" "00361999" "" "" "" "1" "" "00000" "{PMID:Duvvari 2016:27007659}" "patient" "" "" "Netherlands" "" "0" "" "" "white" "Pat2AB" "00362000" "" "" "" "1" "" "00000" "{PMID:Duvvari 2016:27007659}" "patient" "" "" "Netherlands" "" "0" "" "" "white" "Pat3AB" "00362001" "" "" "" "1" "" "00000" "{PMID:Duvvari 2016:27007659}" "patient" "" "" "Netherlands" "" "0" "" "" "white" "Pat4AB" "00362002" "" "" "" "1" "" "00000" "{PMID:Duvvari 2016:27007659}" "patient" "" "" "Netherlands" "" "0" "" "" "white" "Pat5AB" "00362003" "" "" "" "1" "" "00000" "{PMID:Duvvari 2016:27007659}" "patient" "" "" "Netherlands" "" "0" "" "" "white" "Pat6AB" "00362004" "" "" "" "1" "" "00000" "{PMID:Duvvari 2016:27007659}" "patient" "" "" "Netherlands" "" "0" "" "" "white" "Pat7AB" "00362005" "" "" "" "1" "" "00000" "{PMID:Duvvari 2016:27007659}" "patient" "" "" "Netherlands" "" "0" "" "" "white" "Pat8AB" "00362006" "" "" "" "1" "" "00000" "{PMID:Duvvari 2016:27007659}" "patient" "" "" "Netherlands" "" "0" "" "" "white" "Pat9AB" "00362007" "" "" "" "1" "" "00000" "{PMID:Duvvari 2016:27007659}" "patient" "" "" "Netherlands" "" "0" "" "" "white" "Pat10AB" "00362008" "" "" "" "1" "" "00000" "{PMID:Duvvari 2016:27007659}" "patient" "" "" "Netherlands" "" "0" "" "" "white" "Pat11AB" "00362009" "" "" "" "1" "" "00000" "{PMID:Duvvari 2016:27007659}" "patient" "" "" "Netherlands" "" "0" "" "" "white" "Pat12AB" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{individualid}}" "{{diseaseid}}" "00001618" "00198" "00004054" "00277" "00119069" "05327" "00119070" "05327" "00361998" "04214" "00361999" "04214" "00362000" "04214" "00362001" "04214" "00362002" "04214" "00362003" "04214" "00362004" "04214" "00362005" "04214" "00362006" "04214" "00362007" "04214" "00362008" "04214" "00362009" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00277, 04128, 04214, 05327 ## Count = 16 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Growth/Height_SDS}}" "{{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}}" "0000041489" "00277" "00004054" "00549" "Familial, autosomal recessive" "" "normal motor development, speech delay, triangular bird-like face, and short philtrum" "" "weight 1.35 (-3.9), length ?, OFC ?" "4y weight 5.4 (-6.3), length 71 (-7.1), OFC 36.8 (-8.3)" "" "" "" "" "" "" "" "" "" "" "0000092618" "00198" "00001618" "00099" "Familial, autosomal dominant" "" "Milroy-like disease, see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094088" "05327" "00119069" "00034" "Familial, autosomal dominant" "" "family has Milroy-like Primary Lymphoedema (OMIM#615907)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094089" "05327" "00119070" "00034" "Familial, autosomal dominant" "" "Milroy-like primary lymphoedema (OMIM#615907)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000257391" "04214" "00361998" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration, cuticular drusen" "" "0000257392" "04214" "00361999" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration, cuticular drusen" "" "0000257393" "04214" "00362000" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration, cuticular drusen" "" "0000257394" "04214" "00362001" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration, cuticular drusen" "" "0000257395" "04214" "00362002" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration, cuticular drusen" "" "0000257396" "04214" "00362003" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration, cuticular drusen" "" "0000257397" "04214" "00362004" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration, cuticular drusen" "" "0000257398" "04214" "00362005" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration, cuticular drusen" "" "0000257399" "04214" "00362006" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration, cuticular drusen" "" "0000257400" "04214" "00362007" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration, cuticular drusen" "" "0000257401" "04214" "00362008" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration, cuticular drusen" "" "0000257402" "04214" "00362009" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration, cuticular drusen" "" ## Screenings ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000001419" "00001618" "1" "00099" "00099" "2013-07-11 17:36:38" "" "" "SEQ" "DNA" "" "" "0000003976" "00004054" "1" "00549" "00549" "2013-11-21 21:34:10" "00006" "2015-11-26 12:10:07" "SEQ-NG" "DNA" "" "" "0000119532" "00119069" "1" "00034" "00034" "2017-09-05 23:39:53" "" "" "SEQ;SEQ-NG-I" "DNA" "" "WES" "0000119533" "00119070" "1" "00034" "00034" "2017-09-05 23:46:47" "" "" "SEQ" "DNA" "" "" "0000363226" "00361998" "1" "00000" "00006" "2021-04-13 14:21:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000363227" "00361999" "1" "00000" "00006" "2021-04-13 14:21:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000363228" "00362000" "1" "00000" "00006" "2021-04-13 14:21:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000363229" "00362001" "1" "00000" "00006" "2021-04-13 14:21:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000363230" "00362002" "1" "00000" "00006" "2021-04-13 14:21:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000363231" "00362003" "1" "00000" "00006" "2021-04-13 14:21:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000363232" "00362004" "1" "00000" "00006" "2021-04-13 14:21:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000363233" "00362005" "1" "00000" "00006" "2021-04-13 14:21:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000363234" "00362006" "1" "00000" "00006" "2021-04-13 14:21:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000363235" "00362007" "1" "00000" "00006" "2021-04-13 14:21:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000363236" "00362008" "1" "00000" "00006" "2021-04-13 14:21:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000363237" "00362009" "1" "00000" "00006" "2021-04-13 14:21:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000001419" "VEGFC" "0000003976" "AKAP11" "0000003976" "VEGFC" "0000003976" "XRCC4" "0000119532" "FLT4" "0000119532" "VEGFC" "0000119533" "FLT4" "0000119533" "VEGFC" ## 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 = 24 "{{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}}" "0000019156" "11" "90" "4" "177632729" "177632729" "subst" "0" "00099" "VEGFC_000001" "g.177632729G>A" "" "{PMID:Balboa-Beltran 2014:24744435}" "" "" "" "Germline" "yes" "" "0" "" "" "g.176711575G>A" "" "pathogenic" "" "0000084795" "3" "50" "4" "177605081" "177605083" "del" "0.000822368" "00006" "VEGFC_000002" "g.177605081_177605083del" "" "{PMID:Shaheen 2014:24389050}, {DOI:Shaheen 2014:10.1101/gr.160572.113}" "" "" "variant probably not associated with phenotype\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000195637" "21" "90" "4" "177632785" "177632786" "ins" "0" "00034" "VEGFC_000005" "g.177632785_177632786insAA" "" "{PMID:Gordon et al. 2013:23410910}" "" "" "" "Germline" "yes" "" "0" "" "" "g.176711631_176711632insAA" "" "pathogenic" "" "0000195638" "21" "90" "4" "177650682" "177650682" "subst" "0" "00034" "VEGFC_000006" "g.177650682C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.176729528C>T" "" "pathogenic" "" "0000311312" "0" "10" "4" "177605086" "177605088" "del" "0" "02330" "VEGFC_000009" "g.177605086_177605088del" "" "" "" "VEGFC(NM_005429.5):c.1256_1258delTGA (p.S419delins20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000311313" "0" "10" "4" "177650866" "177650866" "subst" "0.0114206" "02330" "VEGFC_000010" "g.177650866C>T" "" "" "" "VEGFC(NM_005429.5):c.182G>A (p.R61Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.176729712C>T" "" "benign" "" "0000311314" "0" "10" "4" "177713387" "177713389" "del" "0" "02330" "VEGFC_000008" "g.177713387_177713389del" "" "" "" "VEGFC(NM_005429.5):c.91_93delGCC (p.A31del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.176792233_176792235del" "" "benign" "" "0000330190" "0" "30" "4" "177713326" "177713326" "subst" "0.00795095" "01804" "VEGFC_000007" "g.177713326T>A" "" "" "" "VEGFC(NM_005429.2):c.140A>T (p.(Glu47Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.176792172T>A" "" "likely benign" "" "0000621376" "0" "10" "4" "177713430" "177713430" "subst" "0.00130739" "02330" "VEGFC_000014" "g.177713430A>T" "" "" "" "VEGFC(NM_005429.5):c.36T>A (p.S12=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.176792276A>T" "" "benign" "" "0000719830" "0" "50" "4" "177648994" "177648994" "subst" "0" "02330" "VEGFC_000015" "g.177648994C>A" "" "" "" "VEGFC(NM_005429.5):c.490G>T (p.G164C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000763701" "0" "50" "4" "177605077" "177605079" "del" "0" "00000" "VEGFC_000016" "g.177605077_177605079del" "" "{PMID:Duvvari 2016:27007659}" "" "1258_1260del" "" "Germline" "" "rs5864401" "0" "" "" "g.176683926_176683928del" "" "VUS" "" "0000763706" "0" "50" "4" "177605077" "177605079" "del" "0" "00000" "VEGFC_000016" "g.177605077_177605079del" "" "{PMID:Duvvari 2016:27007659}" "" "1258_1260del" "" "Germline" "" "rs5864401" "0" "" "" "g.176683926_176683928del" "" "VUS" "" "0000763714" "0" "50" "4" "177605077" "177605079" "del" "0" "00000" "VEGFC_000016" "g.177605077_177605079del" "" "{PMID:Duvvari 2016:27007659}" "" "1258_1260del" "" "Germline" "" "rs5864401" "0" "" "" "g.176683926_176683928del" "" "VUS" "" "0000763726" "0" "50" "4" "177605077" "177605079" "del" "0" "00000" "VEGFC_000016" "g.177605077_177605079del" "" "{PMID:Duvvari 2016:27007659}" "" "1258_1260del" "" "Germline" "" "rs5864401" "0" "" "" "g.176683926_176683928del" "" "VUS" "" "0000763736" "0" "50" "4" "177605077" "177605079" "del" "0" "00000" "VEGFC_000016" "g.177605077_177605079del" "" "{PMID:Duvvari 2016:27007659}" "" "1258_1260del" "" "Germline" "" "rs5864401" "0" "" "" "g.176683926_176683928del" "" "VUS" "" "0000763742" "0" "50" "4" "177605077" "177605079" "del" "0" "00000" "VEGFC_000016" "g.177605077_177605079del" "" "{PMID:Duvvari 2016:27007659}" "" "1258_1260del" "" "Germline" "" "rs5864401" "0" "" "" "g.176683926_176683928del" "" "VUS" "" "0000763750" "0" "50" "4" "177605077" "177605079" "del" "0" "00000" "VEGFC_000016" "g.177605077_177605079del" "" "{PMID:Duvvari 2016:27007659}" "" "1258_1260del" "" "Germline" "" "rs5864401" "0" "" "" "g.176683926_176683928del" "" "VUS" "" "0000763758" "0" "50" "4" "177605077" "177605079" "del" "0" "00000" "VEGFC_000016" "g.177605077_177605079del" "" "{PMID:Duvvari 2016:27007659}" "" "1258_1260del" "" "Germline" "" "rs5864401" "0" "" "" "g.176683926_176683928del" "" "VUS" "" "0000763766" "0" "50" "4" "177605077" "177605079" "del" "0" "00000" "VEGFC_000016" "g.177605077_177605079del" "" "{PMID:Duvvari 2016:27007659}" "" "1258_1260del" "" "Germline" "" "rs5864401" "0" "" "" "g.176683926_176683928del" "" "VUS" "" "0000763775" "0" "50" "4" "177605077" "177605079" "del" "0" "00000" "VEGFC_000016" "g.177605077_177605079del" "" "{PMID:Duvvari 2016:27007659}" "" "1258_1260del" "" "Germline" "" "rs5864401" "0" "" "" "g.176683926_176683928del" "" "VUS" "" "0000763786" "0" "50" "4" "177605077" "177605079" "del" "0" "00000" "VEGFC_000016" "g.177605077_177605079del" "" "{PMID:Duvvari 2016:27007659}" "" "1258_1260del" "" "Germline" "" "rs5864401" "0" "" "" "g.176683926_176683928del" "" "VUS" "" "0000763794" "0" "50" "4" "177605077" "177605079" "del" "0" "00000" "VEGFC_000016" "g.177605077_177605079del" "" "{PMID:Duvvari 2016:27007659}" "" "1258_1260del" "" "Germline" "" "rs5864401" "0" "" "" "g.176683926_176683928del" "" "VUS" "" "0000801581" "0" "10" "4" "177650824" "177650824" "subst" "0.000284988" "02330" "VEGFC_000017" "g.177650824G>C" "" "" "" "VEGFC(NM_005429.5):c.224C>G (p.P75R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886187" "0" "70" "4" "177650726" "177650727" "del" "0" "02330" "VEGFC_000018" "g.177650726_177650727del" "" "" "" "VEGFC(NM_005429.5):c.323_324delAA (p.K108Ifs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes VEGFC ## Count = 24 "{{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}}" "0000019156" "00022588" "90" "628" "0" "628" "0" "c.628C>T" "r.(?)" "p.(Arg210*)" "4" "0000084795" "00022588" "50" "1257" "0" "1259" "0" "c.1257_1259del" "r.(?)" "p.(Met419_Ser420delinsIle)" "7" "0000195637" "00022588" "90" "571" "0" "572" "0" "c.571_572insTT" "r.(?)" "p.(Pro191Leufs*10)" "4" "0000195638" "00022588" "90" "361" "5" "361" "5" "c.361+5G>A" "r.148_361del" "p.Ala50ValfsTer18" "2i" "0000311312" "00022588" "10" "1250" "0" "1252" "0" "c.1250_1252=" "r.(=)" "p.(Gln417=)" "" "0000311313" "00022588" "10" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Arg61Gln)" "" "0000311314" "00022588" "10" "91" "0" "93" "0" "c.91_93del" "r.(?)" "p.(Ala31del)" "" "0000330190" "00022588" "30" "140" "0" "140" "0" "c.140A>T" "r.(?)" "p.(Glu47Val)" "" "0000621376" "00022588" "10" "36" "0" "36" "0" "c.36T>A" "r.(?)" "p.(Ser12=)" "" "0000719830" "00022588" "50" "490" "0" "490" "0" "c.490G>T" "r.(?)" "p.(Gly164Cys)" "" "0000763701" "00022588" "50" "1258" "0" "1260" "0" "c.1258_1260del" "r.(?)" "p.(Ter420AspextTer19)" "" "0000763706" "00022588" "50" "1258" "0" "1260" "0" "c.1258_1260del" "r.(?)" "p.(Ter420AspextTer19)" "" "0000763714" "00022588" "50" "1258" "0" "1260" "0" "c.1258_1260del" "r.(?)" "p.(Ter420AspextTer19)" "" "0000763726" "00022588" "50" "1258" "0" "1260" "0" "c.1258_1260del" "r.(?)" "p.(Ter420AspextTer19)" "" "0000763736" "00022588" "50" "1258" "0" "1260" "0" "c.1258_1260del" "r.(?)" "p.(Ter420AspextTer19)" "" "0000763742" "00022588" "50" "1258" "0" "1260" "0" "c.1258_1260del" "r.(?)" "p.(Ter420AspextTer19)" "" "0000763750" "00022588" "50" "1258" "0" "1260" "0" "c.1258_1260del" "r.(?)" "p.(Ter420AspextTer19)" "" "0000763758" "00022588" "50" "1258" "0" "1260" "0" "c.1258_1260del" "r.(?)" "p.(Ter420AspextTer19)" "" "0000763766" "00022588" "50" "1258" "0" "1260" "0" "c.1258_1260del" "r.(?)" "p.(Ter420AspextTer19)" "" "0000763775" "00022588" "50" "1258" "0" "1260" "0" "c.1258_1260del" "r.(?)" "p.(Ter420AspextTer19)" "" "0000763786" "00022588" "50" "1258" "0" "1260" "0" "c.1258_1260del" "r.(?)" "p.(Ter420AspextTer19)" "" "0000763794" "00022588" "50" "1258" "0" "1260" "0" "c.1258_1260del" "r.(?)" "p.(Ter420AspextTer19)" "" "0000801581" "00022588" "10" "224" "0" "224" "0" "c.224C>G" "r.(?)" "p.(Pro75Arg)" "" "0000886187" "00022588" "70" "323" "0" "324" "0" "c.323_324del" "r.(?)" "p.(Lys108Ilefs*7)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{variantid}}" "0000001419" "0000019156" "0000003976" "0000084795" "0000119532" "0000195637" "0000119533" "0000195638" "0000363226" "0000763701" "0000363227" "0000763706" "0000363228" "0000763714" "0000363229" "0000763726" "0000363230" "0000763736" "0000363231" "0000763742" "0000363232" "0000763750" "0000363233" "0000763758" "0000363234" "0000763766" "0000363235" "0000763775" "0000363236" "0000763786" "0000363237" "0000763794"