### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EPHB4) # 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}}" "EPHB4" "EPH receptor B4" "7" "q22" "unknown" "NC_000007.13" "UD_132465767968" "" "http://www.LOVD.nl/EPHB4" "" "1" "3395" "2050" "600011" "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/EPHB4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-04-29 17:17:26" "00000" "2025-11-01 13:22:20" ## 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}}" "00007167" "EPHB4" "EPH receptor B4" "001" "NM_004444.4" "" "NP_004435.3" "" "" "" "-491" "3860" "2964" "100425143" "100400187" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "02294" "VMCM" "venous malformations, multiple cutaneous and mucosal (VMCM)" "AD" "600195" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05780" "LMPHM" "lymphatic malformation (LMPHM)" "" "" "" "" "" "00006" "2020-07-09 16:12:34" "" "" "05781" "LMPHM7" "lymphatic malformation, type 7" "AD" "617300" "" "" "" "00006" "2020-07-09 16:13:23" "00006" "2022-03-01 16:57:07" "06763" "CMAVM2" "capillary malformation-arteriovenous malformation, type 2" "AD" "618196" "" "" "" "00006" "2021-12-10 23:20:41" "00006" "2022-03-01 16:56:47" "06904" "CMAVM" "capillary malformation-arteriovenous malformation" "" "" "" "" "" "00006" "2022-03-21 16:06:28" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "EPHB4" "05781" "EPHB4" "06763" "EPHB4" "06904" ## Individuals ## Do not remove or alter this header ## ## Count = 60 "{{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}}" "00064039" "" "" "" "1" "" "00034" "{PMID:Martin-Almedina 2016:27400125}" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064040" "" "" "" "1" "" "00034" "{PMID:Martin-Almedina 2016:27400125}" "" "F" "no" "Norway" "" "0" "" "" "" "" "00305893" "" "" "" "1" "" "03695" "" "" "M" "" "China" "" "0" "" "" "" "8" "00404493" "" "" "" "7" "" "04271" "{PMID:Amyere 2017:28687708}" "5-generation family, 7 affected/ (4F, 3M)" "" "" "" "" "0" "" "" "" "CM-13-HO-II-6A" "00404494" "" "" "" "4" "" "04271" "{PMID:Amyere 2017:28687708}" "family 3 affected/4 heterozygous carriers" "" "" "" "" "0" "" "" "" "CM-565-10" "00404495" "" "" "" "1" "" "04271" "{PMID:Amyere 2017:28687708}" "family 1 affected/1 heterozygous carriers" "" "" "" "" "0" "" "" "" "CM-415-10" "00404496" "" "" "" "2" "" "04271" "{PMID:Amyere 2017:28687708}" "family 2 affected/2 heterozygous carriers" "" "" "" "" "0" "" "" "" "CM-184-10" "00404497" "" "" "" "1" "" "04271" "{PMID:Amyere 2017:28687708}" "isolated case" "" "" "" "" "0" "" "" "" "CM-177-10" "00404498" "" "" "" "4" "" "04271" "{PMID:Amyere 2017:28687708}" "family 3 affected/4 heterozygous carriers" "" "" "" "" "0" "" "" "" "CM-219-10" "00404499" "" "" "" "3" "" "04271" "{PMID:Amyere 2017:28687708}" "family 2 affected/3 heterozygous carriers" "" "" "" "" "0" "" "" "" "CM-378-10" "00404500" "" "" "" "1" "" "04271" "{PMID:Amyere 2017:28687708}" "family, 1 case analysed" "" "" "" "" "0" "" "" "" "CM-348-10" "00404501" "" "" "" "1" "" "04271" "{PMID:Amyere 2017:28687708}" "family 1 affected/1 heterozygous carriers" "" "" "" "" "0" "" "" "" "CM-115-100" "00404502" "" "" "" "2" "" "04271" "{PMID:Amyere 2017:28687708}" "family 2 affected/2 heterozygous carriers" "" "" "" "" "0" "" "" "" "CM-291-10" "00404503" "" "" "" "3" "" "04271" "{PMID:Amyere 2017:28687708}" "family 3 affected/3 heterozygous carriers" "" "" "" "" "0" "" "" "" "CM-568-10" "00404504" "" "" "" "4" "" "04271" "{PMID:Amyere 2017:28687708}" "5-generation family, 4 affected (F, 3M)" "" "" "" "" "0" "" "" "" "CM-90-10" "00404505" "" "" "" "1" "" "04271" "{PMID:Amyere 2017:28687708}" "family 1 affected/1 heterozygous carriers" "" "" "" "" "0" "" "" "" "CM-302-10" "00404506" "" "" "" "2" "" "04271" "{PMID:Amyere 2017:28687708}" "2-generation family, affected father/daughter" "" "" "" "" "0" "" "" "" "CM-455-10" "00404507" "" "" "" "2" "" "04271" "{PMID:Amyere 2017:28687708}" "family 2 affected/2 heterozygous carriers" "" "" "" "" "0" "" "" "" "CM-558-10" "00404508" "" "" "" "2" "" "04271" "{PMID:Amyere 2017:28687708}" "family 2 affected/2 heterozygous carriers" "" "" "" "" "0" "" "" "" "CM-546-2" "00404509" "" "" "" "8" "" "04271" "{PMID:Amyere 2017:28687708}" "3-generation family, 8 affected (4F, 4M)" "" "" "" "" "0" "" "" "" "CM-337-106" "00404510" "" "" "" "1" "" "04271" "{PMID:Amyere 2017:28687708}" "family 1 affected/1 heterozygous carriers" "" "" "" "" "0" "" "" "" "CM-345-10" "00404511" "" "" "" "3" "" "04271" "{PMID:Amyere 2017:28687708}" "family 3 affected/3 heterozygous carriers" "" "" "" "" "0" "" "" "" "CM-391-100" "00404512" "" "" "" "4" "" "04271" "{PMID:Amyere 2017:28687708}" "family 4 affected/4 heterozygous carriers" "" "" "" "" "0" "" "" "" "CM-377-10" "00404513" "" "" "" "4" "" "04271" "{PMID:Amyere 2017:28687708}" "family 3 affected/4 heterozygous carriers" "" "" "" "" "0" "" "" "" "CM-120-10" "00404514" "" "" "" "2" "" "04271" "{PMID:Amyere 2017:28687708}" "family 1 affected/2 heterozygous carriers" "" "" "" "" "0" "" "" "" "CM-147-100" "00404515" "" "" "" "1" "" "04271" "{PMID:Amyere 2017:28687708}" "family 1 affected/1 heterozygous carriers" "" "" "" "" "0" "" "" "" "CM-162-100" "00404516" "" "" "" "2" "" "04271" "{PMID:Amyere 2017:28687708}" "family 2 affected/2 heterozygous carriers" "" "" "" "" "0" "" "" "" "CM-538-10" "00404517" "" "" "" "1" "" "04271" "{PMID:Amyere 2017:28687708}" "family 1 affected/1 heterozygous carriers" "" "" "" "" "0" "" "" "" "CM-487-10" "00404518" "" "" "" "1" "" "04271" "{PMID:Amyere 2017:28687708}" "family 1 affected/1 heterozygous carriers" "" "" "" "" "0" "" "" "" "CM-544-10" "00404519" "" "" "" "1" "" "04271" "{PMID:Amyere 2017:28687708}" "family, 1 case analysed" "" "" "" "" "0" "" "" "" "CM-470-10" "00404520" "" "" "" "3" "" "04271" "{PMID:Amyere 2017:28687708}" "family 3 affected/3 heterozygous carriers" "" "" "" "" "0" "" "" "" "CM-323-10" "00404521" "" "" "" "1" "" "04271" "{PMID:Amyere 2017:28687708}" "family, 1 case analysed" "" "" "" "" "0" "" "" "" "CM-131-101" "00404522" "" "" "" "2" "" "04271" "{PMID:Amyere 2017:28687708}" "family 2 affected/2 heterozygous carriers" "" "" "" "" "0" "" "" "" "CM-401-10" "00404523" "" "" "" "2" "" "04271" "{PMID:Amyere 2017:28687708}" "family 2 affected/2 heterozygous carriers" "" "" "" "" "0" "" "" "" "CM-224-11" "00404524" "" "" "" "2" "" "04271" "{PMID:Amyere 2017:28687708}" "family 1 affected/2 heterozygous carriers" "" "" "" "" "0" "" "" "" "CM-239-10" "00404525" "" "" "" "1" "" "04271" "{PMID:Amyere 2017:28687708}" "family 1 affected/1 heterozygous carriers" "" "" "" "" "0" "" "" "" "CM-298-10" "00404526" "" "" "" "4" "" "04271" "{PMID:Amyere 2017:28687708}" "family 3 affected/4 heterozygous carriers" "" "" "" "" "0" "" "" "" "CM-397-10" "00404527" "" "" "" "2" "" "04271" "{PMID:Amyere 2017:28687708}" "family 2 affected/2 heterozygous carriers" "" "" "" "" "0" "" "" "" "CM-105-11" "00404528" "" "" "" "1" "" "04271" "{PMID:Amyere 2017:28687708}" "family, 1 case analysed" "" "" "" "" "0" "" "" "" "CM-340-10" "00404529" "" "" "" "2" "" "04271" "{PMID:Amyere 2017:28687708}" "family 2 affected/2 heterozygous carriers" "" "" "" "" "0" "" "" "" "CM-459-10-1" "00404530" "" "" "" "1" "" "04271" "{PMID:Amyere 2017:28687708}" "family 1 affected/1 heterozygous carriers" "" "" "" "" "0" "" "" "" "CM-74-II-1" "00404531" "" "" "" "1" "" "04271" "{PMID:Amyere 2017:28687708}" "family, 1 case analysed" "" "" "" "" "0" "" "" "" "CM-297-2" "00404532" "" "" "" "4" "" "04271" "{PMID:Amyere 2017:28687708}" "family 4 affected/4 heterozygous carriers" "" "" "" "" "0" "" "" "" "CM-433-11" "00404533" "" "" "" "2" "" "04271" "{PMID:Amyere 2017:28687708}" "family 1 affected/2 heterozygous carriers" "" "" "" "" "0" "" "" "" "CM-236-10" "00404534" "" "" "" "2" "" "04271" "{PMID:Amyere 2017:28687708}" "family 2 affected/2 heterozygous carriers" "" "" "" "" "0" "" "" "" "CM-324-10" "00404535" "" "" "" "1" "" "04271" "{PMID:Amyere 2017:28687708}" "family 1 affected/1 heterozygous carriers" "" "" "" "" "0" "" "" "" "CM-488-10" "00404536" "" "" "" "3" "" "04271" "{PMID:Amyere 2017:28687708}" "family 3 affected/3 heterozygous carriers" "" "" "" "" "0" "" "" "" "CM-498-10" "00404537" "" "" "" "2" "" "04271" "{PMID:Amyere 2017:28687708}" "family 2 affected/2 heterozygous carriers" "" "" "" "" "0" "" "" "" "CM-373-10" "00404538" "" "" "" "2" "" "04271" "{PMID:Amyere 2017:28687708}" "family 2 affected/2 heterozygous carriers" "" "" "" "" "0" "" "" "" "CM-407-2" "00404539" "" "" "" "3" "" "04271" "{PMID:Amyere 2017:28687708}" "family 3 affected/3 heterozygous carriers" "" "" "" "" "0" "" "" "" "CM-567-10" "00404540" "" "" "" "1" "" "04271" "{PMID:Amyere 2017:28687708}" "family 1 affected/1 heterozygous carriers" "" "" "" "" "0" "" "" "" "CM-490-10" "00404541" "" "" "" "1" "" "04271" "{PMID:Amyere 2017:28687708}" "family 1 affected/1 heterozygous carriers" "" "" "" "" "0" "" "" "" "CM-444-10" "00404542" "" "" "" "1" "" "04271" "{PMID:Amyere 2017:28687708}" "family 1 affected/1 heterozygous carriers" "" "" "" "" "0" "" "" "" "CM-282-10" "00404543" "" "" "" "1" "" "04271" "{PMID:Amyere 2017:28687708}" "isolated case" "" "" "" "" "0" "" "" "" "CM-426-10" "00404544" "" "" "" "1" "" "04271" "{PMID:Amyere 2017:28687708}" "family, 1 case analysed" "" "" "" "" "0" "" "" "" "CM-110-101" "00404545" "" "" "" "2" "" "04271" "{PMID:Amyere 2017:28687708}" "family 2 affected/2 heterozygous carriers" "" "" "" "" "0" "" "" "" "CM-390-10" "00404546" "" "" "" "1" "" "04271" "{PMID:Amyere 2017:28687708}" "family, 1 case analysed" "" "" "" "" "0" "" "" "" "CM-157-10" "00405740" "" "" "" "1" "" "00006" "{PMID:Yu 2017:28730721}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "white" "patient" "00464517" "" "" "" "1" "" "04817" "{DOI:Romano 2025:10.3389/fgene.2025.1430657}" "" "" "no" "Italy" "" "0" "" "" "" "Pat3" "00464518" "" "" "" "1" "" "04817" "{DOI:Romano 2025:10.3389/fgene.2025.1430657}" "" "" "no" "Italy" "" "0" "" "" "" "Pat10" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 60 "{{individualid}}" "{{diseaseid}}" "00064039" "00198" "00064040" "00198" "00305893" "05780" "00404493" "00198" "00404494" "00198" "00404495" "00198" "00404496" "00198" "00404497" "00198" "00404498" "00198" "00404499" "00198" "00404500" "00198" "00404501" "00198" "00404502" "00198" "00404503" "00198" "00404504" "00198" "00404505" "00198" "00404506" "00198" "00404507" "00198" "00404508" "00198" "00404509" "00198" "00404510" "00198" "00404511" "00198" "00404512" "00198" "00404513" "00198" "00404514" "00198" "00404515" "00198" "00404516" "00198" "00404517" "00198" "00404518" "00198" "00404519" "00198" "00404520" "00198" "00404521" "00198" "00404522" "00198" "00404523" "00198" "00404524" "00198" "00404525" "00198" "00404526" "00198" "00404527" "00198" "00404528" "00198" "00404529" "00198" "00404530" "00198" "00404531" "00198" "00404532" "00198" "00404533" "00198" "00404534" "00198" "00404535" "00198" "00404536" "00198" "00404537" "00198" "00404538" "00198" "00404539" "00198" "00404540" "00198" "00404541" "00198" "00404542" "00198" "00404543" "00198" "00404544" "00198" "00404545" "00198" "00404546" "00198" "00405740" "06904" "00464517" "02294" "00464518" "02294" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02294, 05780, 05781, 06763, 06904 ## Count = 60 "{{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}}" "0000050556" "00198" "00064039" "00034" "Familial, autosomal dominant" "55y" "lymphatic-related non-immune hydrops fetalis" "15y" "" "" "" "" "" "" "" "" "" "" "0000050557" "00198" "00064040" "00034" "Familial, autosomal dominant" "37y" "autosomal dominant lymphatic-related hydrops fetalis" "00y" "" "" "" "" "" "" "" "" "" "" "0000232006" "05780" "00305893" "03695" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "LMPHM7" "lymphatic malformation" "" "0000297085" "00198" "00404493" "04271" "Familial, autosomal dominant" "" "capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297086" "00198" "00404494" "04271" "Familial, autosomal dominant" "" "capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297087" "00198" "00404495" "04271" "Familial" "" "capillary malformation, no arteriovenous malformation, Parkes Weber syndrome left arm" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297088" "00198" "00404496" "04271" "Familial, autosomal dominant" "" "capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297089" "00198" "00404497" "04271" "Isolated (sporadic)" "" "capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297090" "00198" "00404498" "04271" "Familial, autosomal dominant" "" "capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297091" "00198" "00404499" "04271" "Familial, autosomal dominant" "" "capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297092" "00198" "00404500" "04271" "Unknown" "" "capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297093" "00198" "00404501" "04271" "Familial" "" "capillary malformation, no arteriovenous malformation, Parkes Weber syndrome left leg" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297094" "00198" "00404502" "04271" "Familial, autosomal dominant" "" "capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297095" "00198" "00404503" "04271" "Familial, autosomal dominant" "" "capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297096" "00198" "00404504" "04271" "Familial, autosomal dominant" "" "capillary malformation, no arteriovenous malformation, Parkes Weber syndrome right leg" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297097" "00198" "00404505" "04271" "Familial" "" "capillary malformation, arteriovenous malformation right face, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297098" "00198" "00404506" "04271" "Familial, autosomal dominant" "" "capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297099" "00198" "00404507" "04271" "Familial, autosomal dominant" "" "capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297100" "00198" "00404508" "04271" "Familial, autosomal dominant" "" "capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297101" "00198" "00404509" "04271" "Familial, autosomal dominant" "" "capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297102" "00198" "00404510" "04271" "Familial" "" "capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297103" "00198" "00404511" "04271" "Familial, autosomal dominant" "" "capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297104" "00198" "00404512" "04271" "Familial, autosomal dominant" "" "capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297105" "00198" "00404513" "04271" "Familial, autosomal dominant" "" "capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297106" "00198" "00404514" "04271" "Familial" "" "capillary malformation, arteriovenous malformation left face and lip, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297107" "00198" "00404515" "04271" "Familial" "" "capillary malformation, arteriovenous malformation left face, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297108" "00198" "00404516" "04271" "Familial, autosomal dominant" "" "capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297109" "00198" "00404517" "04271" "Familial" "" "capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297110" "00198" "00404518" "04271" "Familial" "" "capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297111" "00198" "00404519" "04271" "Unknown" "" "capillary malformation, no arteriovenous malformation, Parkes Weber syndrome right arm" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297112" "00198" "00404520" "04271" "Familial, autosomal dominant" "" "capillary malformation, no arteriovenous malformation, Parkes Weber syndrome right leg" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297113" "00198" "00404521" "04271" "Unknown" "" "capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297114" "00198" "00404522" "04271" "Familial, autosomal dominant" "" "capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297115" "00198" "00404523" "04271" "Familial, autosomal dominant" "" "capillary malformation, no arteriovenous malformation, Parkes Weber syndrome left arm" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297116" "00198" "00404524" "04271" "Familial" "" "capillary malformation, arteriovenous malformation left face, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297117" "00198" "00404525" "04271" "Familial" "" "capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297118" "00198" "00404526" "04271" "Familial, autosomal dominant" "" "capillary malformation, vein of Galen aneurysmal malformation (2 affected), no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297119" "00198" "00404527" "04271" "Familial, autosomal dominant" "" "capillary malformation, arteriovenous malformation left arm, Parkes Weber syndrome right leg" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297120" "00198" "00404528" "04271" "Unknown" "" "capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297121" "00198" "00404529" "04271" "Familial, autosomal dominant" "" "capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297122" "00198" "00404530" "04271" "Familial" "" "capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297123" "00198" "00404531" "04271" "Unknown" "" "capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297124" "00198" "00404532" "04271" "Familial, autosomal dominant" "" "capillary malformation, no arteriovenous malformation, Parkes Weber syndrome right arm" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297125" "00198" "00404533" "04271" "Familial" "" "capillary malformation, arteriovenous malformation left face, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297126" "00198" "00404534" "04271" "Familial, autosomal dominant" "" "capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297127" "00198" "00404535" "04271" "Familial" "" "capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297128" "00198" "00404536" "04271" "Familial, autosomal dominant" "" "capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297129" "00198" "00404537" "04271" "Familial, autosomal dominant" "" "capillary malformation, arteriovenous malformation left ear, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297130" "00198" "00404538" "04271" "Familial, autosomal dominant" "" "capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297131" "00198" "00404539" "04271" "Familial, autosomal dominant" "" "capillary malformation, arteriovenous malformation lips, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297132" "00198" "00404540" "04271" "Familial" "" "capillary malformation, arteriovenous malformation D8-L1 perimedullar AVF, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297133" "00198" "00404541" "04271" "Familial" "" "capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297134" "00198" "00404542" "04271" "Familial" "" "capillary malformation, arteriovenous malformation face and upper lip, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297135" "00198" "00404543" "04271" "Isolated (sporadic)" "" "capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297136" "00198" "00404544" "04271" "Unknown" "" "capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297137" "00198" "00404545" "04271" "Familial, autosomal dominant" "" "capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000297138" "00198" "00404546" "04271" "Unknown" "" "capillary malformation, arteriovenous malformation left face, no Parkes Weber syndrome" "" "" "" "" "" "" "" "" "CMAVM2" "arteriovenous malformations" "" "0000298237" "06904" "00405740" "00006" "Isolated (sporadic)" "08y" "see paper; ..., capillary malformation, infancy on left cheek, round and oval vascular macules and patches, most lesions peripheral blanched halo located on head, neck, trunk, and extremities; no palpable thrill, no bruit; no temperature discordance with surrounding skin; no musculoskeletal overgrowth" "" "" "" "" "" "" "" "" "CMAVM2" "capillary malformation" "" "0000350517" "02294" "00464517" "04817" "Familial, autosomal dominant" "" "Vein of Galen malformation" "" "" "" "" "" "" "" "" "Vein of Galen aneurysmal malformation HP:0030713" "" "" "0000350518" "02294" "00464518" "04817" "Unknown" "" "" "" "" "" "" "" "" "" "" "Vein of Galen aneurysmal malformation HP:0030713" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 60 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000064171" "00064039" "1" "00034" "00034" "2016-04-20 12:51:00" "" "" "SEQ-NG-I" "DNA" "" "" "0000064172" "00064040" "1" "00034" "00034" "2016-04-20 12:58:09" "" "" "SEQ-NG-S" "DNA" "" "" "0000307024" "00305893" "1" "03695" "03695" "2020-07-05 14:01:55" "" "" "SEQ-NG" "DNA" "" "" "0000405732" "00404493" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405733" "00404494" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000405734" "00404495" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405735" "00404496" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405736" "00404497" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405737" "00404498" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405738" "00404499" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405739" "00404500" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405740" "00404501" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405741" "00404502" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405742" "00404503" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405743" "00404504" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405744" "00404505" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405745" "00404506" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405746" "00404507" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405747" "00404508" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405748" "00404509" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405749" "00404510" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405750" "00404511" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405751" "00404512" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405752" "00404513" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000405753" "00404514" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405754" "00404515" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405755" "00404516" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405756" "00404517" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405757" "00404518" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405758" "00404519" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405759" "00404520" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405760" "00404521" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405761" "00404522" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405762" "00404523" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405763" "00404524" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405764" "00404525" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405765" "00404526" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405766" "00404527" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405767" "00404528" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405768" "00404529" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405769" "00404530" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405770" "00404531" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405771" "00404532" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405772" "00404533" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405773" "00404534" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405774" "00404535" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405775" "00404536" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405776" "00404537" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405777" "00404538" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405778" "00404539" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405779" "00404540" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405780" "00404541" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405781" "00404542" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405782" "00404543" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405783" "00404544" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405784" "00404545" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000405785" "00404546" "1" "04271" "00006" "2022-03-03 09:44:09" "" "" "SEQ" "DNA" "" "" "0000406980" "00405740" "1" "00006" "00006" "2022-03-21 16:12:09" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical WES" "0000466155" "00464517" "1" "04817" "04817" "2025-03-20 10:52:03" "" "" "SEQ-NG" "DNA" "blood" "" "0000466156" "00464518" "1" "04817" "04817" "2025-03-20 11:35:06" "" "" "SEQ-NG" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 59 "{{screeningid}}" "{{geneid}}" "0000064171" "EPHB4" "0000064172" "EPHB4" "0000307024" "EPHB4" "0000405733" "EPHB4" "0000405734" "EPHB4" "0000405735" "EPHB4" "0000405736" "EPHB4" "0000405737" "EPHB4" "0000405738" "EPHB4" "0000405739" "EPHB4" "0000405740" "EPHB4" "0000405741" "EPHB4" "0000405742" "EPHB4" "0000405743" "EPHB4" "0000405744" "EPHB4" "0000405745" "EPHB4" "0000405746" "EPHB4" "0000405747" "EPHB4" "0000405748" "EPHB4" "0000405749" "EPHB4" "0000405750" "EPHB4" "0000405751" "EPHB4" "0000405752" "EPHB4" "0000405753" "EPHB4" "0000405754" "EPHB4" "0000405755" "EPHB4" "0000405756" "EPHB4" "0000405757" "EPHB4" "0000405758" "EPHB4" "0000405759" "EPHB4" "0000405760" "EPHB4" "0000405761" "EPHB4" "0000405762" "EPHB4" "0000405763" "EPHB4" "0000405764" "EPHB4" "0000405765" "EPHB4" "0000405766" "EPHB4" "0000405767" "EPHB4" "0000405768" "EPHB4" "0000405769" "EPHB4" "0000405770" "EPHB4" "0000405771" "EPHB4" "0000405772" "EPHB4" "0000405773" "EPHB4" "0000405774" "EPHB4" "0000405775" "EPHB4" "0000405776" "EPHB4" "0000405777" "EPHB4" "0000405778" "EPHB4" "0000405779" "EPHB4" "0000405780" "EPHB4" "0000405781" "EPHB4" "0000405782" "EPHB4" "0000405783" "EPHB4" "0000405784" "EPHB4" "0000405785" "EPHB4" "0000406980" "EPHB4" "0000466155" "EPHB4" "0000466156" "EPHB4" ## 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 = 126 "{{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}}" "0000095140" "0" "90" "7" "100405105" "100405105" "subst" "0" "00034" "EPHB4_000001" "g.100405105C>T" "" "{PMID:Martin-Almedina 2016:27400125}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.100807483C>T" "" "pathogenic" "" "0000095141" "0" "90" "7" "100404181" "100404181" "subst" "0" "00034" "EPHB4_000002" "g.100404181A>C" "" "{PMID:Martin-Almedina 2016:27400125}" "" "" "" "De novo" "yes" "" "0" "" "" "g.100806559A>C" "" "pathogenic" "" "0000246576" "0" "10" "7" "100416250" "100416250" "subst" "0.611171" "02330" "EPHB4_000008" "g.100416250A>G" "" "" "" "EPHB4(NM_004444.5):c.1314T>C (p.S438=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100818628A>G" "" "benign" "" "0000246577" "0" "10" "7" "100420155" "100420155" "subst" "0.0780451" "02330" "EPHB4_000009" "g.100420155A>G" "" "" "" "EPHB4(NM_004444.5):c.546T>C (p.G182=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100822533A>G" "" "benign" "" "0000265907" "0" "10" "7" "100416139" "100416139" "subst" "0.12527" "02330" "EPHB4_000005" "g.100416139T>C" "" "" "" "EPHB4(NM_004444.5):c.1422+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100818517T>C" "" "benign" "" "0000265908" "0" "10" "7" "100411278" "100411278" "subst" "0.613882" "02330" "EPHB4_000004" "g.100411278T>C" "" "" "" "EPHB4(NM_004444.5):c.1752A>G (p.G584=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100813656T>C" "" "benign" "" "0000265909" "0" "10" "7" "100410597" "100410597" "subst" "0.34102" "02330" "EPHB4_000003" "g.100410597G>A" "" "" "" "EPHB4(NM_004444.5):c.1890C>T (p.C630=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100812975G>A" "" "benign" "" "0000265910" "0" "10" "7" "100424587" "100424588" "del" "0" "02330" "EPHB4_000010" "g.100424587_100424588del" "" "" "" "EPHB4(NM_004444.5):c.52+14_52+15delCG, SLC12A9(NM_001363494.1):c.-64_-63delGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100826965_100826966del" "" "benign" "" "0000265911" "0" "10" "7" "100424587" "100424587" "subst" "0.339838" "02330" "EPHB4_000007" "g.100424587G>C" "" "" "" "EPHB4(NM_004444.5):c.52+14C>G, SLC12A9(NM_001363494.1):c.-64G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100826965G>C" "" "benign" "" "0000265912" "0" "10" "7" "100424587" "100424587" "del" "0.236829" "02330" "EPHB4_000011" "g.100424587del" "" "" "" "EPHB4(NM_004444.5):c.52+14delC, SLC12A9(NM_001363494.1):c.-64delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100826965del" "" "benign" "" "0000331750" "0" "50" "7" "100421391" "100421391" "subst" "4.08247E-6" "01804" "EPHB4_000006" "g.100421391C>T" "" "" "" "EPHB4(NM_004444.4):c.286G>A (p.(Glu96Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100823769C>T" "" "VUS" "" "0000530065" "0" "10" "7" "100403131" "100403131" "subst" "0.00557633" "02330" "EPHB4_000012" "g.100403131C>A" "" "" "" "EPHB4(NM_004444.5):c.2670G>T (p.E890D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100805509C>A" "" "benign" "" "0000530066" "0" "50" "7" "100414874" "100414874" "subst" "0" "01943" "EPHB4_000013" "g.100414874G>T" "" "" "" "EPHB4(NM_004444.4):c.1528C>A (p.R510S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100817252G>T" "" "VUS" "" "0000530067" "0" "30" "7" "100421340" "100421340" "subst" "0.000302564" "01943" "EPHB4_000014" "g.100421340C>T" "" "" "" "EPHB4(NM_004444.4):c.337G>A (p.V113I), EPHB4(NM_004444.5):c.337G>A (p.V113I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100823718C>T" "" "likely benign" "" "0000530068" "0" "30" "7" "100421340" "100421340" "subst" "0.000302564" "02325" "EPHB4_000014" "g.100421340C>T" "" "" "" "EPHB4(NM_004444.4):c.337G>A (p.V113I), EPHB4(NM_004444.5):c.337G>A (p.V113I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100823718C>T" "" "likely benign" "" "0000610566" "0" "30" "7" "100401064" "100401064" "subst" "0" "02330" "EPHB4_000015" "g.100401064G>A" "" "" "" "EPHB4(NM_004444.5):c.*19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100803442G>A" "" "likely benign" "" "0000610567" "0" "10" "7" "100401098" "100401098" "subst" "0.00718094" "02330" "EPHB4_000016" "g.100401098C>A" "" "" "" "EPHB4(NM_004444.5):c.2949G>T (p.P983=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100803476C>A" "" "benign" "" "0000610568" "0" "50" "7" "100404164" "100404164" "subst" "0" "01804" "EPHB4_000017" "g.100404164C>T" "" "" "" "EPHB4(NM_004444.4):c.2362G>A (p.(Ala788Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100806542C>T" "" "VUS" "" "0000610569" "0" "30" "7" "100417409" "100417409" "subst" "0.000279855" "02325" "EPHB4_000018" "g.100417409G>C" "" "" "" "EPHB4(NM_004444.5):c.1067C>G (p.T356S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100819787G>C" "" "likely benign" "" "0000621787" "0" "30" "7" "100417409" "100417409" "subst" "0.000279855" "02330" "EPHB4_000018" "g.100417409G>C" "" "" "" "EPHB4(NM_004444.5):c.1067C>G (p.T356S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100819787G>C" "" "likely benign" "" "0000655679" "0" "30" "7" "100411281" "100411281" "subst" "1.62466E-5" "02330" "EPHB4_000019" "g.100411281G>A" "" "" "" "EPHB4(NM_004444.5):c.1749C>T (p.I583=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100813659G>A" "" "likely benign" "" "0000655680" "0" "30" "7" "100420010" "100420010" "subst" "0.00111861" "02330" "EPHB4_000020" "g.100420010G>A" "" "" "" "EPHB4(NM_004444.5):c.691C>T (p.P231S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100822388G>A" "" "likely benign" "" "0000655681" "0" "30" "7" "100421317" "100421317" "subst" "3.69131E-5" "02330" "EPHB4_000021" "g.100421317C>T" "" "" "" "EPHB4(NM_004444.5):c.360G>A (p.A120=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100823695C>T" "" "likely benign" "" "0000655682" "0" "30" "7" "100421410" "100421410" "subst" "6.9545E-5" "02330" "EPHB4_000022" "g.100421410C>T" "" "" "" "EPHB4(NM_004444.5):c.267G>A (p.T89=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100823788C>T" "" "likely benign" "" "0000673561" "0" "90" "7" "100404172" "100404172" "subst" "0" "03695" "EPHB4_000023" "g.100404172C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.100806550C>T" "" "pathogenic (dominant)" "" "0000677911" "0" "50" "7" "100421278" "100421278" "subst" "0" "02325" "EPHB4_000024" "g.100421278G>T" "" "" "" "EPHB4(NM_004444.5):c.399C>A (p.N133K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721152" "0" "10" "7" "100404031" "100404031" "subst" "0.00110315" "02330" "EPHB4_000025" "g.100404031G>A" "" "" "" "EPHB4(NM_004444.5):c.2484+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802786" "0" "90" "7" "100404173" "100404173" "subst" "0" "02327" "EPHB4_000026" "g.100404173G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000802787" "0" "50" "7" "100410474" "100410474" "subst" "0" "02330" "EPHB4_000027" "g.100410474G>C" "" "" "" "EPHB4(NM_004444.5):c.2013C>G (p.F671L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802788" "0" "10" "7" "100411287" "100411287" "subst" "0.00222939" "02330" "EPHB4_000028" "g.100411287A>G" "" "" "" "EPHB4(NM_004444.5):c.1743T>C (p.Y581=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802789" "0" "30" "7" "100417495" "100417495" "subst" "2.12191E-5" "02325" "EPHB4_000029" "g.100417495C>T" "" "" "" "EPHB4(NM_004444.5):c.981G>A (p.P327=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802790" "0" "10" "7" "100420212" "100420212" "subst" "0.00665391" "02330" "EPHB4_000030" "g.100420212C>T" "" "" "" "EPHB4(NM_004444.5):c.489G>A (p.T163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000841848" "0" "90" "7" "100424620" "100424620" "del" "0" "04271" "EPHB4_000031" "g.100424620del" "" "{PMID:Amyere 2017:28687708}" "" "33delG" "" "Germline" "yes" "" "0" "" "" "g.100826998del" "" "pathogenic" "" "0000841849" "0" "90" "7" "100421822" "100421822" "subst" "0" "04271" "EPHB4_000042" "g.100421822C>G" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100824200C>G" "" "pathogenic" "" "0000841850" "0" "70" "7" "100421502" "100421502" "subst" "0" "04271" "EPHB4_000041" "g.100421502C>T" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "" "" "0" "" "" "g.100823880C>T" "691535" "likely pathogenic" "" "0000841851" "0" "70" "7" "100421456" "100421456" "subst" "4.12092E-6" "04271" "EPHB4_000040" "g.100421456C>G" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100823834C>G" "691548" "likely pathogenic" "" "0000841852" "0" "90" "7" "100421288" "100421288" "subst" "0" "04271" "EPHB4_000039" "g.100421288C>T" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100823666C>T" "691531" "pathogenic" "" "0000841853" "0" "90" "7" "100420290" "100420290" "subst" "0" "04271" "EPHB4_000038" "g.100420290C>A" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100822668C>A" "" "pathogenic" "" "0000841854" "0" "90" "7" "100420255" "100420258" "dup" "0" "04271" "EPHB4_000034" "g.100420255_100420258dup" "" "{PMID:Amyere 2017:28687708}" "" "447_448insGAAG" "" "Germline" "yes" "" "0" "" "" "g.100822633_100822636dup" "" "pathogenic" "" "0000841855" "0" "70" "7" "100420216" "100420220" "delins" "0" "04271" "EPHB4_000032" "g.100420216_100420220delinsAA" "" "{PMID:Amyere 2017:28687708}" "" "481_485delGTCAAinsTT" "" "Germline" "yes" "" "0" "" "" "g.100822594_100822598delinsAA" "" "likely pathogenic" "" "0000841856" "0" "70" "7" "100420141" "100420141" "subst" "0" "04271" "EPHB4_000037" "g.100420141A>G" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "" "" "0" "" "" "g.100822519A>G" "691541" "likely pathogenic" "" "0000841857" "0" "90" "7" "100420070" "100420071" "del" "0" "04271" "EPHB4_000033" "g.100420070_100420071del" "" "{PMID:Amyere 2017:28687708}" "" "632_633delTG" "" "Germline" "yes" "" "0" "" "" "g.100822448_100822449del" "590872" "pathogenic" "" "0000841858" "0" "90" "7" "100419971" "100419971" "subst" "0" "04271" "EPHB4_000036" "g.100419971G>A" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100822349G>A" "" "pathogenic" "" "0000841859" "0" "70" "7" "100419899" "100419899" "subst" "0" "04271" "EPHB4_000035" "g.100419899A>G" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100822277A>G" "590871" "likely pathogenic" "" "0000841860" "0" "70" "7" "100421333" "100421335" "del" "0" "04271" "EPHB4_000043" "g.100421333_100421335del" "" "{PMID:Amyere 2017:28687708}" "" "345_347delCTA" "" "Germline" "" "" "0" "" "" "g.100823711_100823713del" "" "likely pathogenic" "" "0000841861" "0" "90" "7" "100417422" "100417422" "subst" "0" "04271" "EPHB4_000044" "g.100417422G>A" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100819800G>A" "" "pathogenic" "" "0000841862" "0" "90" "7" "100417422" "100417422" "subst" "0" "04271" "EPHB4_000044" "g.100417422G>A" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100819800G>A" "" "pathogenic" "" "0000841863" "0" "90" "7" "100417397" "100417401" "del" "0" "04271" "EPHB4_000045" "g.100417397_100417401del" "" "{PMID:Amyere 2017:28687708}" "" "1077_1081delCCGCT" "" "Germline" "yes" "" "0" "" "" "g.100819775_100819779del" "" "pathogenic" "" "0000841864" "0" "90" "7" "100417353" "100417353" "subst" "0" "04271" "EPHB4_000046" "g.100417353C>A" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100819731C>A" "" "pathogenic" "" "0000841865" "0" "90" "7" "100417300" "100417300" "del" "0" "04271" "EPHB4_000047" "g.100417300del" "" "{PMID:Amyere 2017:28687708}" "" "1177_1177delG" "" "Germline" "" "" "0" "" "" "g.100819678del" "" "pathogenic" "" "0000841866" "0" "90" "7" "100417185" "100417185" "subst" "0" "04271" "EPHB4_000048" "g.100417185G>A" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100819563G>A" "" "pathogenic" "" "0000841867" "0" "70" "7" "100416158" "100416158" "subst" "0" "04271" "EPHB4_000049" "g.100416158A>C" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100818536A>C" "" "likely pathogenic" "" "0000841868" "0" "90" "7" "100414985" "100414985" "subst" "0" "04271" "EPHB4_000050" "g.100414985C>T" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100817363C>T" "" "pathogenic" "" "0000841869" "0" "70" "7" "100414856" "100414856" "subst" "1.29944E-5" "04271" "EPHB4_000051" "g.100414856C>T" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "" "" "0" "" "" "g.100817234C>T" "" "likely pathogenic" "" "0000841870" "0" "70" "7" "100414856" "100414856" "subst" "1.29944E-5" "04271" "EPHB4_000051" "g.100414856C>T" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "" "" "0" "" "" "g.100817234C>T" "" "likely pathogenic" "" "0000841871" "0" "70" "7" "100414856" "100414856" "subst" "1.29944E-5" "04271" "EPHB4_000051" "g.100414856C>T" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100817234C>T" "" "likely pathogenic" "" "0000841872" "0" "90" "7" "100414844" "100414844" "subst" "0" "04271" "EPHB4_000052" "g.100414844G>A" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "" "" "0" "" "" "g.100817222G>A" "" "pathogenic" "" "0000841873" "0" "90" "7" "100414844" "100414844" "subst" "0" "04271" "EPHB4_000052" "g.100414844G>A" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "" "" "0" "" "" "g.100817222G>A" "" "pathogenic" "" "0000841874" "0" "70" "7" "100414809" "100414809" "subst" "0" "04271" "EPHB4_000053" "g.100414809C>G" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100817187C>G" "" "likely pathogenic" "" "0000841875" "0" "90" "7" "100411618" "100411618" "del" "0" "04271" "EPHB4_000054" "g.100411618del" "" "{PMID:Amyere 2017:28687708}" "" "1615delG" "" "Germline" "yes" "" "0" "" "" "g.100813996del" "" "pathogenic" "" "0000841876" "0" "70" "7" "100411339" "100411339" "subst" "0" "04271" "EPHB4_000055" "g.100411339C>T" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100813717C>T" "" "likely pathogenic" "" "0000841877" "0" "90" "7" "100411297" "100411297" "dup" "0" "04271" "EPHB4_000056" "g.100411297dup" "" "{PMID:Amyere 2017:28687708}" "" "1733_1734insA (G579Rfs*10)" "" "Germline" "yes" "" "0" "" "" "g.100813675dup" "" "pathogenic" "" "0000841878" "0" "90" "7" "100410799" "100410799" "subst" "0" "04271" "EPHB4_000057" "g.100410799A>C" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100813177A>C" "" "pathogenic" "" "0000841879" "0" "70" "7" "100410715" "100410715" "subst" "0" "04271" "EPHB4_000058" "g.100410715A>G" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "" "" "0" "" "" "g.100813093A>G" "" "likely pathogenic" "" "0000841880" "0" "70" "7" "100410521" "100410521" "subst" "0" "04271" "EPHB4_000059" "g.100410521G>A" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "" "" "0" "" "" "g.100812899G>A" "" "likely pathogenic" "" "0000841881" "0" "70" "7" "100410497" "100410497" "subst" "0" "04271" "EPHB4_000060" "g.100410497C>T" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100812875C>T" "" "likely pathogenic" "" "0000841882" "0" "90" "7" "100410449" "100410450" "ins" "0" "04271" "EPHB4_000061" "g.100410449_100410450insA" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100812827_100812828insA" "" "pathogenic" "" "0000841883" "0" "70" "7" "100405148" "100405148" "subst" "4.06828E-6" "04271" "EPHB4_000062" "g.100405148C>T" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100807526C>T" "" "likely pathogenic" "" "0000841884" "0" "90" "7" "100405106" "100405106" "subst" "8.12374E-6" "04271" "EPHB4_000063" "g.100405106G>A" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100807484G>A" "" "pathogenic" "" "0000841885" "0" "90" "7" "100405106" "100405106" "subst" "8.12374E-6" "04271" "EPHB4_000063" "g.100405106G>A" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "" "" "0" "" "" "g.100807484G>A" "" "pathogenic" "" "0000841886" "0" "70" "7" "100405088" "100405088" "subst" "0" "04271" "EPHB4_000064" "g.100405088T>C" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100807466T>C" "" "likely pathogenic" "" "0000841887" "0" "70" "7" "100405088" "100405088" "subst" "0" "04271" "EPHB4_000064" "g.100405088T>C" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100807466T>C" "" "likely pathogenic" "" "0000841888" "0" "70" "7" "100404161" "100404161" "subst" "0" "04271" "EPHB4_000065" "g.100404161G>A" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "" "" "0" "" "" "g.100806539G>A" "" "likely pathogenic" "" "0000841889" "0" "70" "7" "100404160" "100404160" "subst" "0" "04271" "EPHB4_000066" "g.100404160G>C" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100806538G>C" "" "likely pathogenic" "" "0000841890" "0" "90" "7" "100404148" "100404148" "del" "0" "04271" "EPHB4_000067" "g.100404148del" "" "{PMID:Amyere 2017:28687708}" "" "2379delC" "" "Germline" "" "" "0" "" "" "g.100806526del" "" "pathogenic" "" "0000841891" "0" "90" "7" "100404108" "100404108" "subst" "0" "04271" "EPHB4_000068" "g.100404108G>C" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100806486G>C" "" "pathogenic" "" "0000841892" "0" "70" "7" "100404107" "100404107" "subst" "4.06118E-6" "04271" "EPHB4_000069" "g.100404107C>T" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100806485C>T" "" "likely pathogenic" "" "0000841893" "0" "70" "7" "100404068" "100404068" "subst" "0" "04271" "EPHB4_000070" "g.100404068G>T" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100806446G>T" "" "likely pathogenic" "" "0000841894" "0" "70" "7" "100404067" "100404067" "subst" "0" "04271" "EPHB4_000071" "g.100404067G>A" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100806445G>A" "" "likely pathogenic" "" "0000841895" "0" "70" "7" "100404041" "100404041" "subst" "4.08944E-6" "04271" "EPHB4_000072" "g.100404041C>T" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "" "" "0" "" "" "g.100806419C>T" "" "likely pathogenic" "" "0000841896" "0" "70" "7" "100403289" "100403289" "subst" "0" "04271" "EPHB4_000073" "g.100403289G>A" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "" "" "0" "" "" "g.100805667G>A" "" "likely pathogenic" "" "0000841897" "0" "70" "7" "100403268" "100403268" "subst" "0" "04271" "EPHB4_000074" "g.100403268A>G" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "" "" "0" "" "" "g.100805646A>G" "" "likely pathogenic" "" "0000841898" "0" "70" "7" "100403234" "100403234" "subst" "0" "04271" "EPHB4_000075" "g.100403234C>T" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100805612C>T" "" "likely pathogenic" "" "0000841899" "0" "70" "7" "100403211" "100403211" "subst" "0" "04271" "EPHB4_000076" "g.100403211G>A" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100805589G>A" "" "likely pathogenic" "" "0000841900" "0" "70" "7" "100403211" "100403211" "subst" "0" "04271" "EPHB4_000076" "g.100403211G>A" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100805589G>A" "" "likely pathogenic" "" "0000841901" "0" "70" "7" "100403180" "100403180" "subst" "0" "04271" "EPHB4_000077" "g.100403180A>G" "" "{PMID:Amyere 2017:28687708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100805558A>G" "" "likely pathogenic" "" "0000843412" "0" "90" "7" "100404121" "100404121" "subst" "4.06124E-6" "00006" "EPHB4_000078" "g.100404121T>C" "" "{PMID:Yu 2017:28730721}" "" "" "" "De novo" "" "" "0" "" "" "g.100806499T>C" "" "pathogenic (dominant)" "" "0000851342" "0" "50" "7" "100402794" "100402794" "subst" "0" "02330" "EPHB4_000079" "g.100402794G>A" "" "" "" "EPHB4(NM_004444.5):c.2828C>T (p.S943F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887515" "0" "50" "7" "100410418" "100410418" "subst" "0" "02325" "EPHB4_000080" "g.100410418A>G" "" "" "" "EPHB4(NM_004444.5):c.2069T>C (p.M690T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887516" "0" "50" "7" "100411294" "100411294" "subst" "4.06065E-6" "02325" "EPHB4_000081" "g.100411294C>A" "" "" "" "EPHB4(NM_004444.5):c.1736G>T (p.G579V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887517" "0" "50" "7" "100411629" "100411629" "subst" "3.672E-5" "02330" "EPHB4_000082" "g.100411629G>A" "" "" "" "EPHB4(NM_004444.5):c.1603C>T (p.R535W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887518" "0" "30" "7" "100417459" "100417459" "subst" "0.00017683" "02325" "EPHB4_000083" "g.100417459C>A" "" "" "" "EPHB4(NM_004444.5):c.1017G>T (p.L339=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887519" "0" "30" "7" "100420304" "100420304" "del" "0" "02330" "EPHB4_000084" "g.100420304del" "" "" "" "EPHB4(NM_004444.5):c.412-9delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887520" "0" "50" "7" "100421830" "100421830" "subst" "1.21855E-5" "02325" "EPHB4_000085" "g.100421830C>T" "" "" "" "EPHB4(NM_004444.5):c.118G>A (p.G40R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912608" "0" "30" "7" "100404066" "100404066" "subst" "2.03321E-5" "02325" "EPHB4_000086" "g.100404066C>T" "" "" "" "EPHB4(NM_004444.5):c.2460G>A (p.P820=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912609" "0" "50" "7" "100405144" "100405155" "dup" "0" "02330" "EPHB4_000087" "g.100405144_100405155dup" "" "" "" "EPHB4(NM_004444.5):c.2172_2183dupCGCCTCGGGCAT (p.I724_G727dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924602" "0" "50" "7" "100414856" "100414856" "subst" "1.29944E-5" "02330" "EPHB4_000051" "g.100414856C>T" "" "" "" "EPHB4(NM_004444.5):c.1546G>A (p.G516R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924603" "0" "50" "7" "100419931" "100419931" "subst" "3.50848E-5" "02330" "EPHB4_000088" "g.100419931G>A" "" "" "" "EPHB4(NM_004444.5):c.770C>T (p.P257L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948788" "0" "50" "7" "100420207" "100420207" "subst" "2.06225E-5" "02330" "EPHB4_000089" "g.100420207C>T" "" "" "" "EPHB4(NM_004444.5):c.494G>A (p.R165H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964310" "0" "50" "7" "100405111" "100405111" "subst" "0" "02325" "EPHB4_000090" "g.100405111A>C" "" "" "" "EPHB4(NM_004444.5):c.2210T>G (p.V737G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964311" "0" "50" "7" "100414973" "100414973" "subst" "6.34525E-5" "02330" "EPHB4_000091" "g.100414973C>T" "" "" "" "EPHB4(NM_004444.5):c.1429G>A (p.E477K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977424" "0" "50" "7" "100419907" "100419907" "subst" "0" "01804" "EPHB4_000092" "g.100419907T>C" "" "" "" "EPHB4(NM_004444.5):c.794A>G (p.(Asn265Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996030" "0" "30" "7" "100403136" "100403136" "subst" "5.62347E-6" "01804" "EPHB4_000093" "g.100403136G>C" "" "" "" "EPHB4(NM_004444.4):c.2665C>G (p.(Arg889Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996031" "0" "70" "7" "100405100" "100405100" "subst" "0" "01804" "EPHB4_000094" "g.100405100G>C" "" "" "" "EPHB4(NM_004444.4):c.2221C>G (p.(Leu741Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000996032" "0" "30" "7" "100410526" "100410526" "subst" "3.65634E-5" "02325" "EPHB4_000095" "g.100410526G>A" "" "" "" "EPHB4(NM_004444.5):c.1961C>T (p.T654M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996033" "0" "50" "7" "100417281" "100417281" "subst" "0" "02325" "EPHB4_000096" "g.100417281C>T" "" "" "" "EPHB4(NM_004444.5):c.1195G>A (p.D399N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996034" "0" "30" "7" "100417377" "100417377" "subst" "4.56075E-5" "01804" "EPHB4_000097" "g.100417377C>T" "" "" "" "EPHB4(NM_004444.4):c.1099G>A (p.(Gly367Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996035" "0" "30" "7" "100417397" "100417397" "subst" "0.000391079" "01804" "EPHB4_000098" "g.100417397C>T" "" "" "" "EPHB4(NM_004444.4):c.1079G>A (p.(Arg360His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996036" "0" "50" "7" "100417799" "100417799" "subst" "4.06603E-6" "01804" "EPHB4_000099" "g.100417799G>A" "" "" "" "EPHB4(NM_004444.4):c.928C>T (p.(Arg310Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996037" "0" "30" "7" "100417826" "100417826" "subst" "3.25179E-5" "01804" "EPHB4_000100" "g.100417826C>T" "" "" "" "EPHB4(NM_004444.4):c.901G>A (p.(Val301Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996038" "0" "30" "7" "100420232" "100420232" "subst" "4.24935E-6" "01804" "EPHB4_000101" "g.100420232C>T" "" "" "" "EPHB4(NM_004444.4):c.469G>A (p.(Gly157Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996039" "0" "50" "7" "100421438" "100421438" "subst" "8.21814E-6" "01804" "EPHB4_000102" "g.100421438C>T" "" "" "" "EPHB4(NM_004444.4):c.239G>A (p.(Arg80Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014252" "0" "10" "7" "100403143" "100403143" "subst" "0.00234892" "02330" "EPHB4_000103" "g.100403143G>A" "" "" "" "EPHB4(NM_004444.5):c.2658C>T (p.I886=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014253" "0" "10" "7" "100414994" "100414994" "subst" "0.000929537" "02330" "EPHB4_000104" "g.100414994T>C" "" "" "" "EPHB4(NM_004444.5):c.1423-15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025289" "0" "50" "7" "100403240" "100403240" "subst" "0" "02329" "EPHB4_000105" "g.100403240A>G" "" "" "" "EPHB4(NM_004444.5):c.2561T>C (p.L854P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025290" "0" "50" "7" "100403264" "100403264" "subst" "0" "02329" "EPHB4_000106" "g.100403264G>A" "" "" "" "EPHB4(NM_004444.5):c.2537C>T (p.P846L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025291" "0" "30" "7" "100416180" "100416180" "subst" "0.00047619" "02330" "EPHB4_000107" "g.100416180C>T" "" "" "" "EPHB4(NM_004444.5):c.1384G>A (p.G462R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025292" "0" "50" "7" "100421469" "100421469" "subst" "0" "02325" "EPHB4_000108" "g.100421469C>T" "" "" "" "EPHB4(NM_004444.5):c.208G>A (p.A70T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001030006" "0" "70" "7" "100405090" "100405090" "subst" "0" "04817" "EPHB4_000109" "g.100405090C>T" "" "{DOI:Romano 2025:10.3389/fgene.2025.1430657}" "" "" "" "Germline" "" "" "0" "" "" "g.100807468C>T" "No" "VUS" "ACMG" "0001030007" "0" "70" "7" "100424650" "100424650" "subst" "0" "04817" "EPHB4_000110" "g.100424650C>T" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.100827028C>T" "No" "likely pathogenic" "ACMG" "0001035993" "0" "50" "7" "100410536" "100410536" "subst" "4.0624E-6" "01804" "EPHB4_000111" "g.100410536C>G" "" "" "" "EPHB4(NM_004444.5):c.1951G>C (p.(Gly651Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035994" "0" "50" "7" "100410710" "100410710" "subst" "0" "01804" "EPHB4_000112" "g.100410710C>T" "" "" "" "EPHB4(NM_004444.5):c.1870+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035995" "0" "30" "7" "100411344" "100411344" "subst" "0.000678162" "02325" "EPHB4_000113" "g.100411344G>T" "" "" "" "EPHB4(NM_004444.5):c.1692-6C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044564" "0" "50" "7" "100417897" "100417897" "subst" "0" "03779" "EPHB4_000114" "g.100417897T>C" "" "" "" "" "" "Unknown" "" "rs1813192079" "0" "" "" "" "" "VUS" "" "0001052765" "0" "50" "7" "100410478" "100410478" "subst" "0" "01804" "EPHB4_000115" "g.100410478T>G" "" "" "" "EPHB4(NM_004444.5):c.2009A>C (p.(Gln670Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052766" "0" "30" "7" "100420078" "100420078" "subst" "2.90069E-5" "01804" "EPHB4_000116" "g.100420078G>T" "" "" "" "EPHB4(NM_004444.5):c.623C>A (p.(Pro208Gln))" "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 EPHB4 ## Count = 126 "{{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}}" "0000095140" "00007167" "90" "2216" "0" "2216" "0" "c.2216G>A" "r.(?)" "p.(Arg739Gln)" "13" "0000095141" "00007167" "90" "2345" "0" "2345" "0" "c.2345T>G" "r.(?)" "p.(Ile782Ser)" "14" "0000246576" "00007167" "10" "1314" "0" "1314" "0" "c.1314T>C" "r.(?)" "p.(Ser438=)" "" "0000246577" "00007167" "10" "546" "0" "546" "0" "c.546T>C" "r.(?)" "p.(Gly182=)" "" "0000265907" "00007167" "10" "1422" "3" "1422" "3" "c.1422+3A>G" "r.spl?" "p.?" "" "0000265908" "00007167" "10" "1752" "0" "1752" "0" "c.1752A>G" "r.(?)" "p.(Gly584=)" "" "0000265909" "00007167" "10" "1890" "0" "1890" "0" "c.1890C>T" "r.(?)" "p.(Cys630=)" "" "0000265910" "00007167" "10" "52" "14" "52" "15" "c.52+14_52+15del" "r.(=)" "p.(=)" "" "0000265911" "00007167" "10" "52" "14" "52" "14" "c.52+14C>G" "r.(=)" "p.(=)" "" "0000265912" "00007167" "10" "52" "14" "52" "14" "c.52+14del" "r.(=)" "p.(=)" "" "0000331750" "00007167" "50" "286" "0" "286" "0" "c.286G>A" "r.(?)" "p.(Glu96Lys)" "" "0000530065" "00007167" "10" "2670" "0" "2670" "0" "c.2670G>T" "r.(?)" "p.(Glu890Asp)" "" "0000530066" "00007167" "50" "1528" "0" "1528" "0" "c.1528C>A" "r.(?)" "p.(Arg510Ser)" "" "0000530067" "00007167" "30" "337" "0" "337" "0" "c.337G>A" "r.(?)" "p.(Val113Ile)" "" "0000530068" "00007167" "30" "337" "0" "337" "0" "c.337G>A" "r.(?)" "p.(Val113Ile)" "" "0000610566" "00007167" "30" "2983" "0" "2983" "0" "c.*19C>T" "r.(=)" "p.(=)" "" "0000610567" "00007167" "10" "2949" "0" "2949" "0" "c.2949G>T" "r.(?)" "p.(Pro983=)" "" "0000610568" "00007167" "50" "2362" "0" "2362" "0" "c.2362G>A" "r.(?)" "p.(Ala788Thr)" "" "0000610569" "00007167" "30" "1067" "0" "1067" "0" "c.1067C>G" "r.(?)" "p.(Thr356Ser)" "" "0000621787" "00007167" "30" "1067" "0" "1067" "0" "c.1067C>G" "r.(?)" "p.(Thr356Ser)" "" "0000655679" "00007167" "30" "1749" "0" "1749" "0" "c.1749C>T" "r.(?)" "p.(Ile583=)" "" "0000655680" "00007167" "30" "691" "0" "691" "0" "c.691C>T" "r.(?)" "p.(Pro231Ser)" "" "0000655681" "00007167" "30" "360" "0" "360" "0" "c.360G>A" "r.(?)" "p.(Ala120=)" "" "0000655682" "00007167" "30" "267" "0" "267" "0" "c.267G>A" "r.(?)" "p.(Thr89=)" "" "0000673561" "00007167" "90" "2354" "0" "2354" "0" "c.2354G>A" "r.(?)" "p.(Arg785Gln)" "" "0000677911" "00007167" "50" "399" "0" "399" "0" "c.399C>A" "r.(?)" "p.(Asn133Lys)" "" "0000721152" "00007167" "10" "2484" "11" "2484" "11" "c.2484+11C>T" "r.(=)" "p.(=)" "" "0000802786" "00007167" "90" "2353" "0" "2353" "0" "c.2353C>T" "r.(?)" "p.(Arg785*)" "" "0000802787" "00007167" "50" "2013" "0" "2013" "0" "c.2013C>G" "r.(?)" "p.(Phe671Leu)" "" "0000802788" "00007167" "10" "1743" "0" "1743" "0" "c.1743T>C" "r.(?)" "p.(Tyr581=)" "" "0000802789" "00007167" "30" "981" "0" "981" "0" "c.981G>A" "r.(?)" "p.(Pro327=)" "" "0000802790" "00007167" "10" "489" "0" "489" "0" "c.489G>A" "r.(?)" "p.(Thr163=)" "" "0000841848" "00007167" "90" "33" "0" "33" "0" "c.33del" "r.(?)" "p.(Leu12TrpfsTer10)" "" "0000841849" "00007167" "90" "123" "3" "123" "3" "c.123+3G>C" "r.123_411del" "p.Trp18Valfs*16" "" "0000841850" "00007167" "70" "175" "0" "175" "0" "c.175G>A" "r.(?)" "p.(Glu59Lys)" "" "0000841851" "00007167" "70" "221" "0" "221" "0" "c.221G>C" "r.(?)" "p.(Arg74Pro)" "" "0000841852" "00007167" "90" "389" "0" "389" "0" "c.389G>A" "r.(?)" "p.(Trp130Ter)" "" "0000841853" "00007167" "90" "412" "-1" "412" "-1" "c.412-1G>T" "r.spl" "p.?" "" "0000841854" "00007167" "90" "444" "0" "447" "0" "c.444_447dup" "r.(?)" "p.(Arg150GlufsTer74)" "" "0000841855" "00007167" "70" "481" "0" "485" "0" "c.481_485delinsTT" "r.(?)" "p.(Val161_Lys162delinsLeu)" "" "0000841856" "00007167" "70" "560" "0" "560" "0" "c.560T>C" "r.(?)" "p.(Leu187Pro)" "" "0000841857" "00007167" "90" "632" "0" "633" "0" "c.632_633del" "r.(?)" "p.(Val211AlafsTer11)" "" "0000841858" "00007167" "90" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(Gln244Ter)" "" "0000841859" "00007167" "70" "802" "0" "802" "0" "c.802T>C" "r.(?)" "p.(Cys268Arg)" "" "0000841860" "00007167" "70" "345" "0" "347" "0" "c.345_347del" "r.(?)" "p.(Tyr116del)" "" "0000841861" "00007167" "90" "1054" "0" "1054" "0" "c.1054C>T" "r.(?)" "p.(Arg352Ter)" "" "0000841862" "00007167" "90" "1054" "0" "1054" "0" "c.1054C>T" "r.(?)" "p.(Arg352Ter)" "" "0000841863" "00007167" "90" "1077" "0" "1081" "0" "c.1077_1081del" "r.(?)" "p.(Arg360ProfsTer19)" "" "0000841864" "00007167" "90" "1123" "0" "1123" "0" "c.1123G>T" "r.(?)" "p.(Gly375Ter)" "" "0000841865" "00007167" "90" "1177" "0" "1177" "0" "c.1177del" "r.(?)" "p.(Val393PhefsTer17)" "" "0000841866" "00007167" "90" "1291" "0" "1291" "0" "c.1291C>T" "r.(?)" "p.(Arg431Ter)" "" "0000841867" "00007167" "70" "1406" "0" "1406" "0" "c.1406T>G" "r.(?)" "p.(Val469Gly)" "" "0000841868" "00007167" "90" "1423" "-6" "1423" "-6" "c.1423-6G>A" "r.1422 1423insacag" "p.Gly475Thrfs*39" "" "0000841869" "00007167" "70" "1546" "0" "1546" "0" "c.1546G>A" "r.(?)" "p.(Gly516Arg)" "" "0000841870" "00007167" "70" "1546" "0" "1546" "0" "c.1546G>A" "r.(?)" "p.(Gly516Arg)" "" "0000841871" "00007167" "70" "1546" "0" "1546" "0" "c.1546G>A" "r.(?)" "p.(Gly516Arg)" "" "0000841872" "00007167" "90" "1558" "0" "1558" "0" "c.1558C>T" "r.(?)" "p.(Gln520Ter)" "" "0000841873" "00007167" "90" "1558" "0" "1558" "0" "c.1558C>T" "r.(?)" "p.(Gln520Ter)" "" "0000841874" "00007167" "70" "1588" "5" "1588" "5" "c.1588+5G>C" "r.spl" "p.?" "" "0000841875" "00007167" "90" "1615" "0" "1615" "0" "c.1615del" "r.(?)" "p.(Ala539ProfsTer2)" "" "0000841876" "00007167" "70" "1692" "-1" "1692" "-1" "c.1692-1G>A" "r.spl" "p.?" "" "0000841877" "00007167" "90" "1733" "0" "1733" "0" "c.1733dup" "r.(?)" "p.(His578GlnfsTer11)" "" "0000841878" "00007167" "90" "1788" "0" "1788" "0" "c.1788T>G" "r.(?)" "p.(Tyr596Ter)" "" "0000841879" "00007167" "70" "1870" "2" "1870" "2" "c.1870+2T>C" "r.spl" "p.?" "" "0000841880" "00007167" "70" "1966" "0" "1966" "0" "c.1966C>T" "r.(?)" "p.(Arg656Trp)" "" "0000841881" "00007167" "70" "1990" "0" "1990" "0" "c.1990G>A" "r.(?)" "p.(Glu664Lys)" "" "0000841882" "00007167" "90" "2037" "0" "2038" "0" "c.2037_2038insT" "r.(?)" "p.(Glu680Ter)" "" "0000841883" "00007167" "70" "2173" "0" "2173" "0" "c.2173G>A" "r.(?)" "p.(Ala725Thr)" "" "0000841884" "00007167" "90" "2215" "0" "2215" "0" "c.2215C>T" "r.(?)" "p.(Arg739Ter)" "" "0000841885" "00007167" "90" "2215" "0" "2215" "0" "c.2215C>T" "r.(?)" "p.(Arg739Ter)" "" "0000841886" "00007167" "70" "2233" "0" "2233" "0" "c.2233A>G" "r.(?)" "p.(Asn745Asp)" "" "0000841887" "00007167" "70" "2233" "0" "2233" "0" "c.2233A>G" "r.(?)" "p.(Asn745Asp)" "" "0000841888" "00007167" "70" "2365" "0" "2365" "0" "c.2365C>T" "r.(?)" "p.(Pro789Ser)" "" "0000841889" "00007167" "70" "2366" "0" "2366" "0" "c.2366C>G" "r.(?)" "p.(Pro789Arg)" "" "0000841890" "00007167" "90" "2379" "0" "2379" "0" "c.2379del" "r.(?)" "p.(Phe794SerfsTer16)" "" "0000841891" "00007167" "90" "2418" "0" "2418" "0" "c.2418C>G" "r.(?)" "p.(Tyr806Ter)" "" "0000841892" "00007167" "70" "2419" "0" "2419" "0" "c.2419G>A" "r.(?)" "p.(Gly807Arg)" "" "0000841893" "00007167" "70" "2458" "0" "2458" "0" "c.2458C>A" "r.(?)" "p.(Pro820Thr)" "" "0000841894" "00007167" "70" "2459" "0" "2459" "0" "c.2459C>T" "r.(?)" "p.(Pro820Leu)" "" "0000841895" "00007167" "70" "2484" "1" "2484" "1" "c.2484+1G>A" "r.spl" "p.?" "" "0000841896" "00007167" "70" "2512" "0" "2512" "0" "c.2512C>T" "r.(?)" "p.(Arg838Trp)" "" "0000841897" "00007167" "70" "2533" "0" "2533" "0" "c.2533T>C" "r.(?)" "p.(Cys845Arg)" "" "0000841898" "00007167" "70" "2567" "0" "2567" "0" "c.2567G>A" "r.(?)" "p.(Cys856Tyr)" "" "0000841899" "00007167" "70" "2590" "0" "2590" "0" "c.2590C>T" "r.(?)" "p.(Arg864Trp)" "" "0000841900" "00007167" "70" "2590" "0" "2590" "0" "c.2590C>T" "r.(?)" "p.(Arg864Trp)" "" "0000841901" "00007167" "70" "2621" "0" "2621" "0" "c.2621T>C" "r.(?)" "p.(Leu874Pro)" "" "0000843412" "00007167" "90" "2405" "0" "2405" "0" "c.2405A>G" "r.(?)" "p.(Asp802Gly)" "" "0000851342" "00007167" "50" "2828" "0" "2828" "0" "c.2828C>T" "r.(?)" "p.(Ser943Phe)" "" "0000887515" "00007167" "50" "2069" "0" "2069" "0" "c.2069T>C" "r.(?)" "p.(Met690Thr)" "" "0000887516" "00007167" "50" "1736" "0" "1736" "0" "c.1736G>T" "r.(?)" "p.(Gly579Val)" "" "0000887517" "00007167" "50" "1603" "0" "1603" "0" "c.1603C>T" "r.(?)" "p.(Arg535Trp)" "" "0000887518" "00007167" "30" "1017" "0" "1017" "0" "c.1017G>T" "r.(?)" "p.(Leu339=)" "" "0000887519" "00007167" "30" "412" "-9" "412" "-9" "c.412-9del" "r.(=)" "p.(=)" "" "0000887520" "00007167" "50" "118" "0" "118" "0" "c.118G>A" "r.(?)" "p.(Gly40Arg)" "" "0000912608" "00007167" "30" "2460" "0" "2460" "0" "c.2460G>A" "r.(?)" "p.(Pro820=)" "" "0000912609" "00007167" "50" "2172" "0" "2183" "0" "c.2172_2183dup" "r.(?)" "p.(Ile724_Gly727dup)" "" "0000924602" "00007167" "50" "1546" "0" "1546" "0" "c.1546G>A" "r.(?)" "p.(Gly516Arg)" "" "0000924603" "00007167" "50" "770" "0" "770" "0" "c.770C>T" "r.(?)" "p.(Pro257Leu)" "" "0000948788" "00007167" "50" "494" "0" "494" "0" "c.494G>A" "r.(?)" "p.(Arg165His)" "" "0000964310" "00007167" "50" "2210" "0" "2210" "0" "c.2210T>G" "r.(?)" "p.(Val737Gly)" "" "0000964311" "00007167" "50" "1429" "0" "1429" "0" "c.1429G>A" "r.(?)" "p.(Glu477Lys)" "" "0000977424" "00007167" "50" "794" "0" "794" "0" "c.794A>G" "r.(?)" "p.(Asn265Ser)" "" "0000996030" "00007167" "30" "2665" "0" "2665" "0" "c.2665C>G" "r.(?)" "p.(Arg889Gly)" "" "0000996031" "00007167" "70" "2221" "0" "2221" "0" "c.2221C>G" "r.(?)" "p.(Leu741Val)" "" "0000996032" "00007167" "30" "1961" "0" "1961" "0" "c.1961C>T" "r.(?)" "p.(Thr654Met)" "" "0000996033" "00007167" "50" "1195" "0" "1195" "0" "c.1195G>A" "r.(?)" "p.(Asp399Asn)" "" "0000996034" "00007167" "30" "1099" "0" "1099" "0" "c.1099G>A" "r.(?)" "p.(Gly367Arg)" "" "0000996035" "00007167" "30" "1079" "0" "1079" "0" "c.1079G>A" "r.(?)" "p.(Arg360His)" "" "0000996036" "00007167" "50" "928" "0" "928" "0" "c.928C>T" "r.(?)" "p.(Arg310Trp)" "" "0000996037" "00007167" "30" "901" "0" "901" "0" "c.901G>A" "r.(?)" "p.(Val301Ile)" "" "0000996038" "00007167" "30" "469" "0" "469" "0" "c.469G>A" "r.(?)" "p.(Gly157Arg)" "" "0000996039" "00007167" "50" "239" "0" "239" "0" "c.239G>A" "r.(?)" "p.(Arg80Gln)" "" "0001014252" "00007167" "10" "2658" "0" "2658" "0" "c.2658C>T" "r.(?)" "p.(=)" "" "0001014253" "00007167" "10" "1423" "-15" "1423" "-15" "c.1423-15A>G" "r.(=)" "p.(=)" "" "0001025289" "00007167" "50" "2561" "0" "2561" "0" "c.2561T>C" "r.(?)" "p.(Leu854Pro)" "" "0001025290" "00007167" "50" "2537" "0" "2537" "0" "c.2537C>T" "r.(?)" "p.(Pro846Leu)" "" "0001025291" "00007167" "30" "1384" "0" "1384" "0" "c.1384G>A" "r.(?)" "p.(Gly462Arg)" "" "0001025292" "00007167" "50" "208" "0" "208" "0" "c.208G>A" "r.(?)" "p.(Ala70Thr)" "" "0001030006" "00007167" "70" "2231" "0" "2231" "0" "c.2231G>A" "r.(?)" "p.(Arg744His)" "" "0001030007" "00007167" "70" "3" "0" "3" "0" "c.3G>A" "r.?" "p.?" "" "0001035993" "00007167" "50" "1951" "0" "1951" "0" "c.1951G>C" "r.(?)" "p.(Gly651Arg)" "" "0001035994" "00007167" "50" "1870" "7" "1870" "7" "c.1870+7G>A" "r.(=)" "p.(=)" "" "0001035995" "00007167" "30" "1692" "-6" "1692" "-6" "c.1692-6C>A" "r.(=)" "p.(=)" "" "0001044564" "00007167" "50" "830" "0" "830" "0" "c.830A>G" "r.(?)" "p.(Lys277Arg)" "" "0001052765" "00007167" "50" "2009" "0" "2009" "0" "c.2009A>C" "r.(?)" "p.(Gln670Pro)" "" "0001052766" "00007167" "30" "623" "0" "623" "0" "c.623C>A" "r.(?)" "p.(Pro208Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 60 "{{screeningid}}" "{{variantid}}" "0000064171" "0000095140" "0000064172" "0000095141" "0000307024" "0000673561" "0000405732" "0000841848" "0000405733" "0000841849" "0000405734" "0000841850" "0000405735" "0000841851" "0000405736" "0000841852" "0000405737" "0000841853" "0000405738" "0000841854" "0000405739" "0000841855" "0000405740" "0000841856" "0000405741" "0000841857" "0000405742" "0000841858" "0000405743" "0000841859" "0000405744" "0000841860" "0000405745" "0000841861" "0000405746" "0000841862" "0000405747" "0000841863" "0000405748" "0000841864" "0000405749" "0000841865" "0000405750" "0000841866" "0000405751" "0000841867" "0000405752" "0000841868" "0000405753" "0000841869" "0000405754" "0000841870" "0000405755" "0000841871" "0000405756" "0000841872" "0000405757" "0000841873" "0000405758" "0000841874" "0000405759" "0000841875" "0000405760" "0000841876" "0000405761" "0000841877" "0000405762" "0000841878" "0000405763" "0000841879" "0000405764" "0000841880" "0000405765" "0000841881" "0000405766" "0000841882" "0000405767" "0000841883" "0000405768" "0000841884" "0000405769" "0000841885" "0000405770" "0000841886" "0000405771" "0000841887" "0000405772" "0000841888" "0000405773" "0000841889" "0000405774" "0000841890" "0000405775" "0000841891" "0000405776" "0000841892" "0000405777" "0000841893" "0000405778" "0000841894" "0000405779" "0000841895" "0000405780" "0000841896" "0000405781" "0000841897" "0000405782" "0000841898" "0000405783" "0000841899" "0000405784" "0000841900" "0000405785" "0000841901" "0000406980" "0000843412" "0000466155" "0001030006" "0000466156" "0001030007"