### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TRAF7) # 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}}" "TRAF7" "TNF receptor-associated factor 7, E3 ubiquitin protein ligase" "16" "p13.3" "unknown" "NC_000016.9" "UD_136060824945" "" "https://www.LOVD.nl/TRAF7" "" "1" "20456" "84231" "606692" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/TRAF7_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-07-23 21:53:58" "00000" "2026-01-20 18:57:21" ## 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}}" "00021744" "TRAF7" "TNF receptor-associated factor 7, E3 ubiquitin protein ligase" "001" "NM_032271.2" "" "NP_115647.2" "" "" "" "-99" "3568" "2013" "2205799" "2228130" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "01222" "-" "tumor, carcinoid, intestinal" "" "114900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-10-23 12:42:02" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05952" "CAFDADD" "cardiac, facial, and digital anomalies with developmental delay (CAFDADD)" "AD" "618164" "" "" "" "00006" "2021-06-29 15:39:26" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TRAF7" "05952" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00170820" "" "" "" "1" "" "00006" "{PMID:Tokita 2018:29961569}, {DOI:Tokita 2018:10.1016/j.ajhg.2018.06.005}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "29961569-Pat1" "00170821" "" "" "" "1" "" "00006" "{PMID:Tokita 2018:29961569}, {DOI:Tokita 2018:10.1016/j.ajhg.2018.06.005}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "29961569-Pat2" "00170822" "" "" "" "1" "" "00006" "{PMID:Tokita 2018:29961569}, {DOI:Tokita 2018:10.1016/j.ajhg.2018.06.005}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "29961569-Pat3" "00170823" "" "" "" "1" "" "00006" "{PMID:Tokita 2018:29961569}, {DOI:Tokita 2018:10.1016/j.ajhg.2018.06.005}" "2-generation family, 1 affected, unaffected non-carrier mother" "F" "" "United States" "" "0" "" "" "" "29961569-Pat4" "00170824" "" "" "" "1" "" "00006" "{PMID:Tokita 2018:29961569}, {DOI:Tokita 2018:10.1016/j.ajhg.2018.06.005}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "29961569-Pat5" "00170825" "" "" "" "1" "" "00006" "{PMID:Tokita 2018:29961569}, {DOI:Tokita 2018:10.1016/j.ajhg.2018.06.005}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "29961569-Pat6" "00170826" "" "" "" "1" "" "00006" "{PMID:Tokita 2018:29961569}, {DOI:Tokita 2018:10.1016/j.ajhg.2018.06.005}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "29961569-Pat7" "00377049" "" "" "" "1" "" "04104" "" "" "" "" "Poland" "" "" "" "" "" "" "00455326" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00170820" "00198" "00170821" "00198" "00170822" "00198" "00170823" "00198" "00170824" "00198" "00170825" "00198" "00170826" "00198" "00377049" "01222" "00455326" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01222, 05611, 05952 ## Count = 8 "{{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}}" "0000135680" "00198" "00170820" "00006" "Isolated (sporadic)" "07y06m" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental delay, congenital heart defects, limb/digital anomalies, dysmorphic features" "" "0000135681" "00198" "00170821" "00006" "Isolated (sporadic)" "21d" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental delay, congenital heart defects, limb/digital anomalies, dysmorphic features" "" "0000135682" "00198" "00170822" "00006" "Isolated (sporadic)" "43y" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental delay, congenital heart defects, limb/digital anomalies, dysmorphic features" "" "0000135683" "00198" "00170823" "00006" "Isolated (sporadic)" "2y4m" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental delay, congenital heart defects, limb/digital anomalies, dysmorphic features" "" "0000135684" "00198" "00170824" "00006" "Isolated (sporadic)" "7d" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental delay, congenital heart defects, limb/digital anomalies, dysmorphic features" "" "0000135685" "00198" "00170825" "00006" "Isolated (sporadic)" "1y8m" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental delay, congenital heart defects, limb/digital anomalies, dysmorphic features" "" "0000135686" "00198" "00170826" "00006" "Isolated (sporadic)" "8y" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental delay, congenital heart defects, limb/digital anomalies, dysmorphic features" "" "0000343906" "05611" "00455326" "03544" "Isolated (sporadic)" "" "HP:0000252, HP:0000286, HP:0000316, HP:0000483, HP:0000508, HP:0000486, HP:0000545, HP:0001256, HP:0004322, HP:0010445, HP:0011446" "" "" "" "" "" "" "" "" "CAFDADD" "complex neurodevelopmental disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000171695" "00170820" "1" "00006" "00006" "2018-07-23 22:04:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000171702" "00170821" "1" "00006" "00006" "2018-07-23 22:04:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000171703" "00170822" "1" "00006" "00006" "2018-07-23 22:04:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000171704" "00170823" "1" "00006" "00006" "2018-07-23 22:04:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000171705" "00170824" "1" "00006" "00006" "2018-07-23 22:04:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000171706" "00170825" "1" "00006" "00006" "2018-07-23 22:04:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000171707" "00170826" "1" "00006" "00006" "2018-07-23 22:04:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000378254" "00377049" "1" "04104" "04104" "2021-06-29 12:50:42" "" "" "SEQ-NG" "DNA" "" "" "0000456940" "00455326" "1" "03544" "03544" "2024-10-07 11:16:01" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000171695" "TRAF7" "0000171702" "TRAF7" "0000171703" "TRAF7" "0000171704" "TRAF7" "0000171705" "TRAF7" "0000171706" "TRAF7" "0000171707" "TRAF7" "0000378254" "TRAF7" ## 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 = 64 "{{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}}" "0000272644" "0" "50" "16" "2240166" "2240166" "subst" "0" "01943" "CASKIN1_000005" "g.2240166G>A" "" "" "" "CASKIN1(NM_020764.3):c.152C>T (p.S51L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2190165G>A" "" "VUS" "" "0000272645" "0" "50" "16" "2230185" "2230185" "subst" "0" "01943" "CASKIN1_000001" "g.2230185G>A" "" "" "" "CASKIN1(NM_020764.3):c.3184C>T (p.R1062W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2180184G>A" "" "VUS" "" "0000324483" "0" "30" "16" "2230805" "2230805" "subst" "0.00162245" "01804" "CASKIN1_000002" "g.2230805G>A" "" "" "" "CASKIN1(NM_020764.3):c.2564C>T (p.(Pro855Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2180804G>A" "" "likely benign" "" "0000324485" "0" "50" "16" "2231837" "2231837" "subst" "0.000109733" "01804" "CASKIN1_000004" "g.2231837C>T" "" "" "" "CASKIN1(NM_020764.3):c.1723G>A (p.(Asp575Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2181836C>T" "" "VUS" "" "0000345758" "0" "70" "16" "2239249" "2239249" "subst" "0" "02327" "CASKIN1_000006" "g.2239249C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2189248C>G" "" "likely pathogenic" "" "0000391985" "0" "90" "16" "2226351" "2226351" "subst" "0" "00006" "TRAF7_000001" "g.2226351G>A" "" "{PMID:Tokita 2018:29961569}, {DOI:Tokita 2018:10.1016/j.ajhg.2018.06.005}" "" "" "" "De novo" "" "" "0" "" "" "g.2176350G>A" "" "pathogenic (dominant)" "" "0000391992" "0" "90" "16" "2226351" "2226351" "subst" "0" "00006" "TRAF7_000001" "g.2226351G>A" "" "{PMID:Tokita 2018:29961569}, {DOI:Tokita 2018:10.1016/j.ajhg.2018.06.005}" "" "" "" "De novo" "" "" "0" "" "" "g.2176350G>A" "" "pathogenic (dominant)" "" "0000391993" "0" "90" "16" "2226351" "2226351" "subst" "0" "00006" "TRAF7_000001" "g.2226351G>A" "" "{PMID:Tokita 2018:29961569}, {DOI:Tokita 2018:10.1016/j.ajhg.2018.06.005}" "" "" "" "De novo" "" "" "0" "" "" "g.2176350G>A" "" "pathogenic (dominant)" "" "0000391994" "0" "90" "16" "2226351" "2226351" "subst" "0" "00006" "TRAF7_000001" "g.2226351G>A" "" "{PMID:Tokita 2018:29961569}, {DOI:Tokita 2018:10.1016/j.ajhg.2018.06.005}" "" "" "father not available" "Germline/De novo (untested)" "" "" "0" "" "" "g.2176350G>A" "" "pathogenic (dominant)" "" "0000391995" "0" "90" "16" "2226104" "2226104" "subst" "0" "00006" "TRAF7_000002" "g.2226104A>G" "" "{PMID:Tokita 2018:29961569}, {DOI:Tokita 2018:10.1016/j.ajhg.2018.06.005}" "" "" "" "De novo" "" "" "0" "" "" "g.2176103A>G" "" "pathogenic (dominant)" "" "0000391996" "0" "90" "16" "2223505" "2223505" "subst" "0" "00006" "TRAF7_000003" "g.2223505A>G" "" "{PMID:Tokita 2018:29961569}, {DOI:Tokita 2018:10.1016/j.ajhg.2018.06.005}" "" "" "" "De novo" "" "" "0" "" "" "g.2173504A>G" "" "pathogenic (dominant)" "" "0000391997" "0" "90" "16" "2223813" "2223813" "subst" "0" "00006" "TRAF7_000004" "g.2223813C>G" "" "{PMID:Tokita 2018:29961569}, {DOI:Tokita 2018:10.1016/j.ajhg.2018.06.005}" "" "" "" "De novo" "" "" "0" "" "" "g.2173812C>G" "" "pathogenic (dominant)" "" "0000557496" "0" "30" "16" "2230812" "2230812" "subst" "0.022025" "01804" "CASKIN1_000010" "g.2230812G>A" "" "" "" "CASKIN1(NM_020764.3):c.2557C>T (p.(Pro853Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2180811G>A" "" "likely benign" "" "0000557497" "0" "30" "16" "2230928" "2230928" "subst" "0.0013936" "01804" "CASKIN1_000011" "g.2230928G>A" "" "" "" "CASKIN1(NM_020764.3):c.2441C>T (p.(Thr814Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2180927G>A" "" "likely benign" "" "0000557498" "0" "30" "16" "2231025" "2231025" "subst" "0.00384943" "01804" "CASKIN1_000012" "g.2231025T>C" "" "" "" "CASKIN1(NM_020764.3):c.2344A>G (p.(Lys782Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2181024T>C" "" "likely benign" "" "0000557500" "0" "50" "16" "2231297" "2231297" "subst" "0.000120202" "01943" "CASKIN1_000013" "g.2231297C>T" "" "" "" "CASKIN1(NM_020764.3):c.2072G>A (p.R691Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2181296C>T" "" "VUS" "" "0000557502" "0" "50" "16" "2234798" "2234798" "subst" "0" "01943" "CASKIN1_000014" "g.2234798C>A" "" "" "" "CASKIN1(NM_020764.3):c.1396G>T (p.E466*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2184797C>A" "" "VUS" "" "0000557503" "0" "50" "16" "2239121" "2239121" "subst" "8.16933E-6" "01943" "CASKIN1_000015" "g.2239121G>A" "" "" "" "CASKIN1(NM_020764.3):c.524C>T (p.A175V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2189120G>A" "" "VUS" "" "0000615867" "0" "70" "16" "2225929" "2225929" "subst" "0" "02327" "CASKIN1_000016" "g.2225929G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2175928G>A" "" "likely pathogenic" "" "0000657787" "0" "30" "16" "2222367" "2222367" "subst" "0.00020553" "02325" "CASKIN1_000017" "g.2222367C>T" "" "" "" "TRAF7(NM_032271.3):c.651C>T (p.S217=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2172366C>T" "" "likely benign" "" "0000657788" "0" "90" "16" "2226351" "2226351" "subst" "0" "02327" "TRAF7_000001" "g.2226351G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2176350G>A" "" "pathogenic" "" "0000790962" "0" "50" "16" "2225916" "2225916" "subst" "0" "04104" "TRAF7_000005" "g.2225916C>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.2175915C>G" "" "likely pathogenic" "" "0000807231" "0" "30" "16" "2224343" "2224367" "del" "0" "01804" "CASKIN1_000018" "g.2224343_2224367del" "" "" "" "TRAF7(NM_032271.2):c.1346+6_1346+30del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807232" "0" "50" "16" "2225387" "2225387" "subst" "8.12513E-6" "02325" "CASKIN1_000019" "g.2225387T>A" "" "" "" "TRAF7(NM_032271.3):c.1472T>A (p.V491E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807233" "0" "50" "16" "2226107" "2226107" "subst" "0" "02327" "CASKIN1_000020" "g.2226107G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807236" "0" "50" "16" "2230647" "2230647" "subst" "0" "01943" "CASKIN1_000021" "g.2230647C>T" "" "" "" "CASKIN1(NM_020764.3):c.2722G>A (p.A908T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807237" "0" "30" "16" "2239123" "2239123" "subst" "0.000490084" "01943" "CASKIN1_000022" "g.2239123C>T" "" "" "" "CASKIN1(NM_020764.3):c.522G>A (p.A174=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854399" "0" "30" "16" "2215942" "2215942" "subst" "0" "02325" "CASKIN1_000023" "g.2215942G>A" "" "" "" "TRAF7(NM_032271.3):c.139+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854400" "0" "50" "16" "2218125" "2218127" "del" "0" "02325" "CASKIN1_000024" "g.2218125_2218127del" "" "" "" "TRAF7(NM_032271.3):c.187_189del (p.(Ser64del)), TRAF7(NM_032271.3):c.187_189delTCC (p.S64del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854401" "0" "50" "16" "2225498" "2225498" "subst" "1.21986E-5" "02325" "CASKIN1_000025" "g.2225498C>T" "" "" "" "TRAF7(NM_032271.3):c.1504-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892803" "0" "50" "16" "2230574" "2230574" "subst" "0" "02327" "CASKIN1_000026" "g.2230574C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892804" "0" "50" "16" "2231391" "2231391" "subst" "1.29578E-5" "02327" "CASKIN1_000027" "g.2231391C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914562" "0" "70" "16" "2225881" "2225881" "subst" "0" "02327" "CASKIN1_000028" "g.2225881C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000926207" "0" "30" "16" "2220726" "2220728" "del" "0" "02325" "CASKIN1_000029" "g.2220726_2220728del" "" "" "" "TRAF7(NM_032271.3):c.343_345delGAG (p.E115del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930570" "0" "30" "16" "2221325" "2221325" "subst" "0" "02325" "CASKIN1_000030" "g.2221325G>A" "" "" "" "TRAF7(NM_032271.3):c.409G>A (p.V137I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930571" "0" "70" "16" "2224276" "2224276" "subst" "0" "02327" "CASKIN1_000031" "g.2224276A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000950588" "0" "30" "16" "2231210" "2231210" "subst" "0.00637948" "01804" "CASKIN1_000032" "g.2231210G>A" "" "" "" "CASKIN1(NM_020764.3):c.2159C>T (p.(Pro720Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968252" "0" "70" "16" "2223484" "2223484" "subst" "0" "02327" "CASKIN1_000033" "g.2223484G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000981770" "0" "30" "16" "2213937" "2213937" "subst" "0" "01804" "CASKIN1_000034" "g.2213937A>G" "" "" "" "TRAF7(NM_032271.3):c.16A>G (p.(Ser6Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981771" "0" "30" "16" "2215588" "2215588" "subst" "0" "01804" "CASKIN1_000035" "g.2215588G>A" "" "" "" "TRAF7(NM_032271.3):c.82-292G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981772" "0" "30" "16" "2215593" "2215593" "subst" "0" "01804" "CASKIN1_000036" "g.2215593G>T" "" "" "" "TRAF7(NM_032271.3):c.82-287G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981773" "0" "50" "16" "2223211" "2223211" "subst" "4.1425E-6" "01804" "CASKIN1_000037" "g.2223211T>C" "" "" "" "TRAF7(NM_032271.3):c.823T>C (p.(Tyr275His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981774" "0" "50" "16" "2223350" "2223350" "subst" "0" "01804" "CASKIN1_000038" "g.2223350A>G" "" "" "" "TRAF7(NM_032271.3):c.962A>G (p.(Lys321Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981775" "0" "30" "16" "2223823" "2223823" "subst" "0.000106494" "01804" "CASKIN1_000039" "g.2223823T>C" "" "" "" "TRAF7(NM_032271.3):c.1121T>C (p.(Met374Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002076" "0" "30" "16" "2214008" "2214008" "subst" "0" "02325" "CASKIN1_000040" "g.2214008G>A" "" "" "" "TRAF7(NM_032271.3):c.81+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002077" "0" "30" "16" "2218143" "2218143" "subst" "2.88313E-5" "01804" "CASKIN1_000041" "g.2218143T>C" "" "" "" "TRAF7(NM_032271.2):c.205T>C (p.(Ser69Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002078" "0" "50" "16" "2220636" "2220636" "subst" "4.25608E-5" "01804" "CASKIN1_000042" "g.2220636C>T" "" "" "" "TRAF7(NM_032271.2):c.253C>T (p.(Arg85Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002079" "0" "30" "16" "2223295" "2223295" "subst" "3.25351E-5" "01804" "CASKIN1_000043" "g.2223295G>A" "" "" "" "TRAF7(NM_032271.2):c.907G>A (p.(Val303Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002080" "0" "70" "16" "2223813" "2223813" "subst" "0" "01804" "CASKIN1_000044" "g.2223813C>T" "" "" "" "TRAF7(NM_032271.2):c.1111C>T (p.(Arg371Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001002081" "0" "30" "16" "2224297" "2224297" "subst" "1.62884E-5" "01804" "CASKIN1_000045" "g.2224297G>A" "" "" "" "TRAF7(NM_032271.2):c.1309G>A (p.(Gly437Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002082" "0" "50" "16" "2224298" "2224298" "subst" "0" "01804" "CASKIN1_000046" "g.2224298G>A" "" "" "" "TRAF7(NM_032271.2):c.1310G>A (p.(Gly437Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002083" "0" "50" "16" "2226176" "2226176" "subst" "0" "01804" "CASKIN1_000047" "g.2226176C>T" "" "" "" "TRAF7(NM_032271.2):c.1873C>T (p.(Leu625Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001011370" "0" "70" "16" "2226086" "2226086" "subst" "0" "03544" "TRAF7_000006" "g.2226086C>G" "" "{PMID:Tokita 2018:29961569}" "" "" "" "De novo" "-" "rs2141298490" "0" "" "" "g.2176085C>G" "{CV:1698784}" "likely pathogenic" "ACMG" "0001040947" "0" "30" "16" "2214161" "2214162" "ins" "0" "01804" "CASKIN1_000048" "g.2214161_2214162insGG" "" "" "" "TRAF7(NM_032271.3):c.81+159_81+160insGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040950" "0" "30" "16" "2220641" "2220641" "subst" "0.000382013" "01804" "CASKIN1_000049" "g.2220641C>T" "" "" "" "TRAF7(NM_032271.3):c.258C>T (p.(Ser86=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040951" "0" "30" "16" "2222286" "2222286" "subst" "0.0465378" "01804" "CASKIN1_000050" "g.2222286C>T" "" "" "" "TRAF7(NM_032271.3):c.570C>T (p.(His190=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040952" "0" "50" "16" "2222371" "2222371" "subst" "0" "01804" "CASKIN1_000051" "g.2222371C>T" "" "" "" "TRAF7(NM_032271.3):c.655C>T (p.(Arg219Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055378" "0" "50" "16" "2214006" "2214006" "subst" "8.4273E-6" "01804" "CASKIN1_000052" "g.2214006A>G" "" "" "" "TRAF7(NM_032271.3):c.81+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055379" "0" "30" "16" "2214160" "2214160" "subst" "0" "01804" "CASKIN1_000053" "g.2214160T>C" "" "" "" "TRAF7(NM_032271.3):c.81+158T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055380" "0" "50" "16" "2218125" "2218127" "del" "0" "01804" "CASKIN1_000024" "g.2218125_2218127del" "" "" "" "TRAF7(NM_032271.3):c.187_189del (p.(Ser64del)), TRAF7(NM_032271.3):c.187_189delTCC (p.S64del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055381" "0" "30" "16" "2220637" "2220637" "subst" "2.55174E-5" "01804" "CASKIN1_000054" "g.2220637G>A" "" "" "" "TRAF7(NM_032271.3):c.254G>A (p.(Arg85His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001066375" "0" "30" "16" "2218173" "2218173" "subst" "0" "01804" "CASKIN1_000055" "g.2218173G>A" "" "" "" "TRAF7(NM_032271.3):c.231+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001066376" "0" "50" "16" "2222270" "2222270" "subst" "0" "01804" "CASKIN1_000056" "g.2222270T>G" "" "" "" "TRAF7(NM_032271.3):c.554T>G (p.(Phe185Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066377" "0" "50" "16" "2225623" "2225623" "subst" "0" "02325" "CASKIN1_000057" "g.2225623G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 TRAF7 ## Count = 64 "{{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}}" "0000272644" "00021744" "50" "15604" "0" "15604" "0" "c.*13591G>A" "r.(=)" "p.(=)" "" "0000272645" "00021744" "50" "5623" "0" "5623" "0" "c.*3610G>A" "r.(=)" "p.(=)" "" "0000324483" "00021744" "30" "6243" "0" "6243" "0" "c.*4230G>A" "r.(=)" "p.(=)" "" "0000324485" "00021744" "50" "7275" "0" "7275" "0" "c.*5262C>T" "r.(=)" "p.(=)" "" "0000345758" "00021744" "70" "14687" "0" "14687" "0" "c.*12674C>G" "r.(=)" "p.(=)" "" "0000391985" "00021744" "90" "1964" "0" "1964" "0" "c.1964G>A" "r.(?)" "p.(Arg655Gln)" "" "0000391992" "00021744" "90" "1964" "0" "1964" "0" "c.1964G>A" "r.(?)" "p.(Arg655Gln)" "" "0000391993" "00021744" "90" "1964" "0" "1964" "0" "c.1964G>A" "r.(?)" "p.(Arg655Gln)" "" "0000391994" "00021744" "90" "1964" "0" "1964" "0" "c.1964G>A" "r.(?)" "p.(Arg655Gln)" "" "0000391995" "00021744" "90" "1801" "0" "1801" "0" "c.1801A>G" "r.(?)" "p.(Thr601Ala)" "" "0000391996" "00021744" "90" "1036" "0" "1036" "0" "c.1036A>G" "r.(?)" "p.(Lys346Glu)" "" "0000391997" "00021744" "90" "1111" "0" "1111" "0" "c.1111C>G" "r.(?)" "p.(Arg371Gly)" "" "0000557496" "00021744" "30" "6250" "0" "6250" "0" "c.*4237G>A" "r.(=)" "p.(=)" "" "0000557497" "00021744" "30" "6366" "0" "6366" "0" "c.*4353G>A" "r.(=)" "p.(=)" "" "0000557498" "00021744" "30" "6463" "0" "6463" "0" "c.*4450T>C" "r.(=)" "p.(=)" "" "0000557500" "00021744" "50" "6735" "0" "6735" "0" "c.*4722C>T" "r.(=)" "p.(=)" "" "0000557502" "00021744" "50" "10236" "0" "10236" "0" "c.*8223C>A" "r.(=)" "p.(=)" "" "0000557503" "00021744" "50" "14559" "0" "14559" "0" "c.*12546G>A" "r.(=)" "p.(=)" "" "0000615867" "00021744" "70" "1721" "0" "1721" "0" "c.1721G>A" "r.(?)" "p.(Cys574Tyr)" "" "0000657787" "00021744" "30" "651" "0" "651" "0" "c.651C>T" "r.(?)" "p.(Ser217=)" "" "0000657788" "00021744" "90" "1964" "0" "1964" "0" "c.1964G>A" "r.(?)" "p.(Arg655Gln)" "" "0000790962" "00021744" "50" "1708" "0" "1708" "0" "c.1708C>G" "r.(1708c>g)" "p.(His570Asp)" "" "0000807231" "00021744" "30" "1346" "9" "1346" "33" "c.1346+9_1346+33del" "r.(=)" "p.(=)" "" "0000807232" "00021744" "50" "1472" "0" "1472" "0" "c.1472T>A" "r.(?)" "p.(Val491Glu)" "" "0000807233" "00021744" "50" "1804" "0" "1804" "0" "c.1804G>A" "r.(?)" "p.(Val602Met)" "" "0000807236" "00021744" "50" "6085" "0" "6085" "0" "c.*4072C>T" "r.(=)" "p.(=)" "" "0000807237" "00021744" "30" "14561" "0" "14561" "0" "c.*12548C>T" "r.(=)" "p.(=)" "" "0000854399" "00021744" "30" "139" "5" "139" "5" "c.139+5G>A" "r.spl?" "p.?" "" "0000854400" "00021744" "50" "187" "0" "189" "0" "c.187_189del" "r.(?)" "p.(Ser64del)" "" "0000854401" "00021744" "50" "1504" "-3" "1504" "-3" "c.1504-3C>T" "r.spl?" "p.?" "" "0000892803" "00021744" "50" "6012" "0" "6012" "0" "c.*3999C>T" "r.(=)" "p.(=)" "" "0000892804" "00021744" "50" "6829" "0" "6829" "0" "c.*4816C>G" "r.(=)" "p.(=)" "" "0000914562" "00021744" "70" "1673" "0" "1673" "0" "c.1673C>G" "r.(?)" "p.(Ser558Cys)" "" "0000926207" "00021744" "30" "343" "0" "345" "0" "c.343_345del" "r.(?)" "p.(Glu115del)" "" "0000930570" "00021744" "30" "409" "0" "409" "0" "c.409G>A" "r.(?)" "p.(Val137Ile)" "" "0000930571" "00021744" "70" "1288" "0" "1288" "0" "c.1288A>G" "r.(?)" "p.(Lys430Glu)" "" "0000950588" "00021744" "30" "6648" "0" "6648" "0" "c.*4635G>A" "r.(=)" "p.(=)" "" "0000968252" "00021744" "70" "1015" "0" "1015" "0" "c.1015G>T" "r.(?)" "p.(Val339Phe)" "" "0000981770" "00021744" "30" "16" "0" "16" "0" "c.16A>G" "r.(?)" "p.(Ser6Gly)" "" "0000981771" "00021744" "30" "82" "-292" "82" "-292" "c.82-292G>A" "r.(=)" "p.(=)" "" "0000981772" "00021744" "30" "82" "-287" "82" "-287" "c.82-287G>T" "r.(=)" "p.(=)" "" "0000981773" "00021744" "50" "823" "0" "823" "0" "c.823T>C" "r.(?)" "p.(Tyr275His)" "" "0000981774" "00021744" "50" "962" "0" "962" "0" "c.962A>G" "r.(?)" "p.(Lys321Arg)" "" "0000981775" "00021744" "30" "1121" "0" "1121" "0" "c.1121T>C" "r.(?)" "p.(Met374Thr)" "" "0001002076" "00021744" "30" "81" "6" "81" "6" "c.81+6G>A" "r.(=)" "p.(=)" "" "0001002077" "00021744" "30" "205" "0" "205" "0" "c.205T>C" "r.(?)" "p.(Ser69Pro)" "" "0001002078" "00021744" "50" "253" "0" "253" "0" "c.253C>T" "r.(?)" "p.(Arg85Cys)" "" "0001002079" "00021744" "30" "907" "0" "907" "0" "c.907G>A" "r.(?)" "p.(Val303Met)" "" "0001002080" "00021744" "70" "1111" "0" "1111" "0" "c.1111C>T" "r.(?)" "p.(Arg371Trp)" "" "0001002081" "00021744" "30" "1309" "0" "1309" "0" "c.1309G>A" "r.(?)" "p.(Gly437Ser)" "" "0001002082" "00021744" "50" "1310" "0" "1310" "0" "c.1310G>A" "r.(?)" "p.(Gly437Asp)" "" "0001002083" "00021744" "50" "1873" "0" "1873" "0" "c.1873C>T" "r.(?)" "p.(Leu625Phe)" "" "0001011370" "00021744" "70" "1783" "0" "1783" "0" "c.1783C>G" "r.(?)" "p.(Leu595Val)" "19" "0001040947" "00021744" "30" "81" "159" "81" "160" "c.81+159_81+160insGG" "r.(=)" "p.(=)" "" "0001040950" "00021744" "30" "258" "0" "258" "0" "c.258C>T" "r.(?)" "p.(=)" "" "0001040951" "00021744" "30" "570" "0" "570" "0" "c.570C>T" "r.(?)" "p.(=)" "" "0001040952" "00021744" "50" "655" "0" "655" "0" "c.655C>T" "r.(?)" "p.(Arg219Trp)" "" "0001055378" "00021744" "50" "81" "4" "81" "4" "c.81+4A>G" "r.spl?" "p.?" "" "0001055379" "00021744" "30" "81" "158" "81" "158" "c.81+158T>C" "r.(=)" "p.(=)" "" "0001055380" "00021744" "50" "187" "0" "189" "0" "c.187_189del" "r.(?)" "p.(Ser64del)" "" "0001055381" "00021744" "30" "254" "0" "254" "0" "c.254G>A" "r.(?)" "p.(Arg85His)" "" "0001066375" "00021744" "30" "231" "4" "231" "4" "c.231+4G>A" "r.spl?" "p.?" "" "0001066376" "00021744" "50" "554" "0" "554" "0" "c.554T>G" "r.(?)" "p.(Phe185Cys)" "" "0001066377" "00021744" "50" "1626" "0" "1626" "0" "c.1626G>C" "r.(?)" "p.(Lys542Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000171695" "0000391985" "0000171702" "0000391992" "0000171703" "0000391993" "0000171704" "0000391994" "0000171705" "0000391995" "0000171706" "0000391996" "0000171707" "0000391997" "0000378254" "0000790962" "0000456940" "0001011370"