### LOVD-version 3000-28d ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MAP3K15) # 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}}" "MAP3K15" "mitogen-activated protein kinase kinase kinase 15" "X" "p22.12" "unknown" "NG_021184.1" "UD_132119083021" "" "https://www.LOVD.nl/MAP3K15" "" "1" "31689" "389840" "300820" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/MAP3K15_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2017-03-05 17:34:57" "00000" "2023-01-11 15:44:22" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000558" "MAP3K15" "mitogen-activated protein kinase kinase kinase 15" "001" "NM_001001671.3" "" "NP_001001671.3" "" "" "" "1" "4633" "3942" "19378176" "19533379" "00000" "2012-09-13 12:32:25" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04282" "CVI" "cerebral visual impairment (CVI)" "" "" "" "" "" "00006" "2015-06-15 15:37:52" "00006" "2015-06-15 15:38:26" "05611" "NDD" "neurodevelopmental delay (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2019-08-07 19:22:28" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00039398" "" "" "" "1" "" "01158" "{PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00172305" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172306" "" "" "" "2" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172307" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172308" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00307082" "" "" "" "1" "" "00006" "{PMID:Motta 2020:32721402}, {DOI:Motta 2020:10.1016/j.ajhg.2020.06.018}" "" "M" "no" "Spain" "" "0" "" "" "white" "Pat7" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00039398" "00139" "00039398" "04282" "00172305" "00187" "00172306" "00187" "00172307" "00187" "00172308" "00187" "00307082" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 01157, 04282, 05611 ## Count = 8 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "0000078834" "04282" "00039398" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "0000137169" "00187" "00172305" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137170" "00187" "00172306" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137171" "00187" "00172307" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137172" "00187" "00172308" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000232900" "05611" "00307082" "00006" "Familial, autosomal recessive" "8y" "birth height 47 cm (-1.52 SD), weight 2,170 g (-2.75 SD), OFC 33.5 cm (-1.11 SD); height 111 cm (-2.88 SD), weight 18 kg (-2.65 SD), OFC 48 cm (-3.25 SD); developmental delay; intellectual disability; speech dealy; severe attention deficit hyperactivity disorder; learning disorder; hypotonia; 5y-epilepsy, generalized seizures, controlled with valproic acid; no cardiac defect; hyperlaxity, short and puffy hands and feet, tapered fingers, mild metatarsus varus; prominent metopic ridge, bitemporal narrowing, mild hypertelorism, downslanted palpebral fissures, ptosis, low-set posteriorly rotated ears, wide nasal bridge, high arched palate, widely spaced teeth, pointed chin, low posterior hairline, webbed/short neck; no skin anomalies; no cryptorchidism; no GER; no recurrent infections; no lymphatic involvement; no bleeding, no easy bruising; no hearing problems; normal MRI/CT" "" "" "" "" "" "" "" "" "" "neurodegeneration" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000039639" "00039398" "1" "01158" "01158" "2015-06-15 14:22:21" "" "" "SEQ-NG" "DNA" "" "" "0000173188" "00172305" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173189" "00172306" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000173190" "00172307" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173191" "00172308" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000308224" "00307082" "1" "00006" "00006" "2020-07-30 09:03:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000173188" "MAP3K15" "0000173189" "MAP3K15" "0000173190" "MAP3K15" "0000173191" "MAP3K15" "0000308224" "MAPK1" ## 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 = 105 "{{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}}" "0000001822" "20" "50" "X" "19478340" "19478340" "dup" "0" "00037" "MAP3K15_000010" "g.19478340dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.19460222dup" "" "VUS" "" "0000002833" "0" "50" "X" "19386959" "19386959" "del" "0" "00037" "MAP3K15_000016" "g.19386959del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.19368841del" "" "VUS" "" "0000002834" "0" "50" "X" "19416201" "19416201" "del" "0" "00037" "MAP3K15_000014" "g.19416201del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.19398083del" "" "VUS" "" "0000002835" "20" "50" "X" "19478340" "19478340" "dup" "0" "00037" "MAP3K15_000017" "g.19478340dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.19460222dup" "" "VUS" "" "0000006460" "20" "50" "X" "19475368" "19475368" "subst" "0" "00037" "MAP3K15_000011" "g.19475368A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.19457250A>G" "" "VUS" "" "0000006461" "20" "50" "X" "19478294" "19478294" "subst" "0.912411" "00037" "MAP3K15_000012" "g.19478294T>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.19460176T>A" "" "VUS" "" "0000006462" "20" "50" "X" "19482476" "19482476" "subst" "0.842645" "00037" "MAP3K15_000013" "g.19482476C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.19464358C>T" "" "VUS" "" "0000008512" "20" "50" "X" "19475368" "19475368" "subst" "0" "00037" "MAP3K15_000011" "g.19475368A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.19457250A>G" "" "VUS" "" "0000008513" "20" "50" "X" "19478294" "19478294" "subst" "0.912411" "00037" "MAP3K15_000012" "g.19478294T>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.19460176T>A" "" "VUS" "" "0000008514" "20" "50" "X" "19478340" "19478340" "dup" "0" "00037" "MAP3K15_000010" "g.19478340dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.19460222dup" "" "VUS" "" "0000008515" "20" "50" "X" "19482476" "19482476" "subst" "0.842645" "00037" "MAP3K15_000013" "g.19482476C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.19464358C>T" "" "VUS" "" "0000010835" "0" "50" "X" "19416201" "19416201" "del" "0" "00037" "MAP3K15_000014" "g.19416201del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.19398083del" "" "VUS" "" "0000010836" "20" "50" "X" "19478340" "19478340" "dup" "0" "00037" "MAP3K15_000017" "g.19478340dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.19460222dup" "" "VUS" "" "0000067247" "21" "30" "X" "19398315" "19398315" "subst" "0.00512904" "01158" "MAP3K15_000018" "g.19398315C>T" "" "{PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}" "" "" "" "Germline" "" "" "0" "" "" "g.19380197C>T" "" "likely benign" "" "0000251923" "0" "30" "X" "19375782" "19375782" "subst" "0.0204882" "02326" "PDHA1_000022" "g.19375782A>C" "" "" "" "PDHA1(NM_001173454.1):c.958A>C (p.M320L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19357664A>C" "" "likely benign" "" "0000253529" "0" "10" "X" "19377133" "19377133" "subst" "0.000319526" "01943" "PDHA1_000023" "g.19377133A>C" "" "" "" "PDHA1(NM_000284.3):c.999A>C (p.(Glu333Asp)), PDHA1(NM_001173454.1):c.1113A>C (p.E371D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19359015A>C" "" "benign" "" "0000291462" "0" "50" "X" "19444456" "19444456" "subst" "0" "01943" "MAP3K15_000044" "g.19444456C>T" "" "" "" "MAP3K15(NM_001001671.3):c.1172G>A (p.R391H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19426338C>T" "" "VUS" "" "0000291463" "0" "50" "X" "19443667" "19443667" "subst" "0.0000307195" "01943" "MAP3K15_000042" "g.19443667T>C" "" "" "" "MAP3K15(NM_001001671.3):c.1421A>G (p.K474R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19425549T>C" "" "VUS" "" "0000291464" "0" "50" "X" "19433338" "19433338" "subst" "0" "01943" "MAP3K15_000040" "g.19433338G>A" "" "" "" "MAP3K15(NM_001001671.3):c.1477C>T (p.R493W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19415220G>A" "" "VUS" "" "0000291465" "0" "50" "X" "19413327" "19413327" "subst" "0.0000169219" "01943" "MAP3K15_000036" "g.19413327C>G" "" "" "" "MAP3K15(NM_001001671.3):c.2067-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19395209C>G" "" "VUS" "" "0000291466" "0" "50" "X" "19533144" "19533144" "subst" "0.0000433576" "01943" "MAP3K15_000047" "g.19533144G>C" "" "" "" "MAP3K15(NM_001001671.3):c.236C>G (p.P79R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19515026G>C" "" "VUS" "" "0000291467" "0" "30" "X" "19398310" "19398310" "subst" "0" "01943" "MAP3K15_000034" "g.19398310G>A" "" "" "" "MAP3K15(NM_001001671.3):c.2517C>T (p.C839=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19380192G>A" "" "likely benign" "" "0000291468" "0" "10" "X" "19389113" "19389113" "subst" "0.00102241" "01943" "MAP3K15_000027" "g.19389113G>A" "" "" "" "MAP3K15(NM_001001671.3):c.3364C>T (p.R1122*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19370995G>A" "" "benign" "" "0000296865" "0" "50" "X" "19362136" "19362136" "subst" "0" "02325" "PDHA1_000013" "g.19362136G>A" "" "" "" "PDHA1(NM_000284.4):c.-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19344018G>A" "" "VUS" "" "0000296866" "0" "30" "X" "19367441" "19367441" "subst" "0.0000562234" "02325" "PDHA1_000017" "g.19367441G>A" "" "" "" "PDHA1(NM_001173454.2):c.183G>A (p.V61=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19349323G>A" "" "likely benign" "" "0000296867" "0" "30" "X" "19369513" "19369513" "subst" "0.0000563399" "02325" "PDHA1_000018" "g.19369513G>A" "" "" "" "PDHA1(NM_000284.3):c.406G>A (p.(Ala136Thr)), PDHA1(NM_000284.4):c.406G>A (p.A136T), PDHA1(NM_001173454.1):c.520G>A (p.A174T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19351395G>A" "" "likely benign" "" "0000296868" "0" "30" "X" "19371317" "19371317" "subst" "0.0000111971" "02325" "PDHA1_000019" "g.19371317T>C" "" "" "" "PDHA1(NM_000284.4):c.510+26T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19353199T>C" "" "likely benign" "" "0000296869" "0" "10" "X" "19363875" "19363875" "del" "0" "02325" "PDHA1_000014" "g.19363875del" "" "" "" "PDHA1(NM_000284.4):c.57+1663delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19345757del" "" "benign" "" "0000296870" "0" "50" "X" "19364725" "19364725" "subst" "0.0000783638" "02325" "PDHA1_000016" "g.19364725C>G" "" "" "" "PDHA1(NM_000284.4):c.57+2513C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19346607C>G" "" "VUS" "" "0000296871" "0" "30" "X" "19373890" "19373890" "subst" "0.00476001" "02325" "PDHA1_000006" "g.19373890C>T" "" "" "" "PDHA1(NM_001173454.2):c.945+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19355772C>T" "" "likely benign" "" "0000300685" "0" "30" "X" "19369513" "19369513" "subst" "0.0000563399" "02326" "PDHA1_000018" "g.19369513G>A" "" "" "" "PDHA1(NM_000284.3):c.406G>A (p.(Ala136Thr)), PDHA1(NM_000284.4):c.406G>A (p.A136T), PDHA1(NM_001173454.1):c.520G>A (p.A174T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19351395G>A" "" "likely benign" "" "0000305404" "0" "50" "X" "19373832" "19373832" "subst" "0" "01943" "PDHA1_000021" "g.19373832G>C" "" "" "" "PDHA1(NM_001173454.1):c.902G>C (p.R301P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19355714G>C" "" "VUS" "" "0000333352" "0" "30" "X" "19364694" "19364694" "subst" "0.00200108" "01804" "PDHA1_000015" "g.19364694G>A" "" "" "" "PDHA1(NM_000284.3):c.57+2482G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19346576G>A" "" "likely benign" "" "0000333354" "0" "50" "X" "19377133" "19377133" "subst" "0.000319526" "01804" "PDHA1_000023" "g.19377133A>C" "" "" "" "PDHA1(NM_000284.3):c.999A>C (p.(Glu333Asp)), PDHA1(NM_001173454.1):c.1113A>C (p.E371D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19359015A>C" "" "VUS" "" "0000333356" "0" "30" "X" "19379453" "19379453" "subst" "0.0105518" "01804" "MAP3K15_000020" "g.19379453T>C" "" "" "" "MAP3K15(NM_001001671.3):c.3857+4A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19361335T>C" "" "likely benign" "" "0000333358" "0" "50" "X" "19380991" "19380992" "del" "0" "01804" "MAP3K15_000022" "g.19380991_19380992del" "" "" "" "MAP3K15(NM_001001671.3):c.3567-9_3567-8del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19362873_19362874del" "" "VUS" "" "0000333359" "0" "50" "X" "19380988" "19380992" "del" "0" "01804" "MAP3K15_000023" "g.19380988_19380992del" "" "" "" "MAP3K15(NM_001001671.3):c.3567-12_3567-8del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19362870_19362874del" "" "VUS" "" "0000333360" "0" "50" "X" "19380992" "19380992" "del" "0" "01804" "MAP3K15_000024" "g.19380992del" "" "" "" "MAP3K15(NM_001001671.3):c.3567-9del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19362874del" "" "VUS" "" "0000333362" "0" "50" "X" "19387332" "19387332" "subst" "0.00218248" "01804" "MAP3K15_000026" "g.19387332G>A" "" "" "" "MAP3K15(NM_001001671.3):c.3406C>T (p.(Arg1136Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19369214G>A" "" "VUS" "" "0000333365" "0" "30" "X" "19389463" "19389463" "subst" "0.0000739388" "01804" "MAP3K15_000029" "g.19389463G>A" "" "" "" "MAP3K15(NM_001001671.3):c.3294C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19371345G>A" "" "likely benign" "" "0000333366" "0" "50" "X" "19390794" "19390794" "subst" "0.00229727" "01804" "MAP3K15_000030" "g.19390794T>G" "" "" "" "MAP3K15(NM_001001671.3):c.3085A>C (p.(Asn1029His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19372676T>G" "" "VUS" "" "0000333367" "0" "30" "X" "19390807" "19390807" "subst" "0" "01804" "MAP3K15_000031" "g.19390807G>C" "" "" "" "MAP3K15(NM_001001671.3):c.3072C>G (p.(Asn1024Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19372689G>C" "" "likely benign" "" "0000333370" "0" "50" "X" "19413216" "19413216" "subst" "0" "01804" "MAP3K15_000035" "g.19413216A>G" "" "" "" "MAP3K15(NM_001001671.3):c.2177T>C (p.(Met726Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19395098A>G" "" "VUS" "" "0000333372" "0" "50" "X" "19431519" "19431519" "subst" "0.000102206" "01804" "MAP3K15_000038" "g.19431519C>T" "" "" "" "MAP3K15(NM_001001671.3):c.1654G>A (p.(Glu552Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19413401C>T" "" "VUS" "" "0000333373" "0" "30" "X" "19433335" "19433335" "subst" "0.00632515" "01804" "MAP3K15_000039" "g.19433335G>A" "" "" "" "MAP3K15(NM_001001671.3):c.1480C>T (p.(Arg494Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19415217G>A" "" "likely benign" "" "0000333376" "0" "50" "X" "19504603" "19504603" "dup" "0" "01804" "MAP3K15_000045" "g.19504603dup" "" "" "" "MAP3K15(NM_001001671.3):c.522_523insC (p.(Thr175HisfsTer19))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19486485dup" "" "VUS" "" "0000333377" "0" "50" "X" "19533142" "19533142" "subst" "0" "01804" "MAP3K15_000046" "g.19533142C>A" "" "" "" "MAP3K15(NM_001001671.3):c.238G>T (p.(Glu80Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19515024C>A" "" "VUS" "" "0000341724" "0" "50" "X" "19368152" "19368152" "subst" "0" "02327" "PDHA1_000025" "g.19368152G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19350034G>A" "" "VUS" "" "0000349375" "0" "50" "X" "19373555" "19373555" "subst" "0" "02327" "PDHA1_000026" "g.19373555C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19355437C>A" "" "VUS" "" "0000393045" "1" "50" "X" "19392724" "19392724" "subst" "0.0000112137" "00124" "MAP3K15_000001" "g.19392724G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "1069C>T (R357*)" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.19374606G>A" "" "VUS" "" "0000393046" "1" "50" "X" "19379640" "19379640" "subst" "0.00365309" "00124" "MAP3K15_000003" "g.19379640G>C" "2/208 cases" "{PMID:Tarpey 2009:19377476}" "" "2176C>G (Q726E)" "recurrent, found 2 times" "Germline" "" "" "0" "" "" "g.19361522G>C" "" "VUS" "" "0000393047" "1" "50" "X" "19378903" "19378903" "subst" "0.0000746466" "00124" "MAP3K15_000004" "g.19378903C>G" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "2331G>C (R777S)" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.19360785C>G" "" "VUS" "" "0000393048" "1" "50" "X" "19389623" "19389623" "subst" "0.00174288" "00124" "MAP3K15_000002" "g.19389623A>G" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "1559T>C (V520A)" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.19371505A>G" "" "VUS" "" "0000575181" "0" "50" "X" "19364743" "19364743" "subst" "0" "02327" "MAP3K15_000049" "g.19364743T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19346625T>A" "" "VUS" "" "0000575183" "0" "30" "X" "19367495" "19367495" "subst" "0.00000565195" "01804" "MAP3K15_000051" "g.19367495A>C" "" "" "" "PDHA1(NM_000284.3):c.117+6A>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19349377A>C" "" "likely benign" "" "0000575184" "0" "50" "X" "19368144" "19368144" "subst" "0" "02325" "MAP3K15_000052" "g.19368144G>C" "" "" "" "PDHA1(NM_000284.4):c.207G>C (p.Q69H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19350026G>C" "" "VUS" "" "0000575185" "0" "70" "X" "19369471" "19369471" "subst" "0" "02327" "MAP3K15_000053" "g.19369471G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19351353G>C" "" "likely pathogenic" "" "0000575186" "0" "50" "X" "19369513" "19369513" "subst" "0.0000563399" "01804" "PDHA1_000018" "g.19369513G>A" "" "" "" "PDHA1(NM_000284.3):c.406G>A (p.(Ala136Thr)), PDHA1(NM_000284.4):c.406G>A (p.A136T), PDHA1(NM_001173454.1):c.520G>A (p.A174T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19351395G>A" "" "VUS" "" "0000575187" "0" "50" "X" "19372615" "19372615" "subst" "0" "02325" "MAP3K15_000054" "g.19372615C>G" "" "" "" "PDHA1(NM_000284.4):c.517C>G (p.L173V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19354497C>G" "" "VUS" "" "0000575188" "0" "10" "X" "19373457" "19373457" "subst" "0.00211606" "01943" "MAP3K15_000055" "g.19373457C>T" "" "" "" "PDHA1(NM_001173454.1):c.718-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19355339C>T" "" "benign" "" "0000575191" "0" "30" "X" "19377712" "19377712" "subst" "0.000139845" "01804" "MAP3K15_000058" "g.19377712G>A" "" "" "" "PDHA1(NM_000284.3):c.1114G>A (p.(Asp372Asn)), PDHA1(NM_001173454.1):c.1228G>A (p.D410N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19359594G>A" "" "likely benign" "" "0000575192" "0" "90" "X" "19377731" "19377731" "subst" "0" "02327" "MAP3K15_000059" "g.19377731G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19359613G>A" "" "pathogenic" "" "0000575198" "0" "30" "X" "19392615" "19392615" "subst" "0.0000955502" "01804" "MAP3K15_000064" "g.19392615C>T" "" "" "" "MAP3K15(NM_001001671.3):c.2753G>A (p.(Arg918Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19374497C>T" "" "likely benign" "" "0000575199" "0" "30" "X" "19398278" "19398278" "subst" "0.000539322" "01943" "MAP3K15_000033" "g.19398278G>A" "" "" "" "MAP3K15(NM_001001671.3):c.2549C>T (p.P850L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19380160G>A" "" "likely benign" "" "0000575200" "0" "30" "X" "19398315" "19398315" "subst" "0.00512904" "01804" "MAP3K15_000018" "g.19398315C>T" "" "" "" "MAP3K15(NM_001001671.3):c.2512G>A (p.(Gly838Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19380197C>T" "" "likely benign" "" "0000575201" "0" "50" "X" "19410478" "19410478" "subst" "0" "01943" "MAP3K15_000065" "g.19410478C>T" "" "" "" "MAP3K15(NM_001001671.3):c.2308G>A (p.V770M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19392360C>T" "" "VUS" "" "0000575202" "0" "50" "X" "19425322" "19425322" "subst" "0.0000814297" "01943" "MAP3K15_000037" "g.19425322C>T" "" "" "" "MAP3K15(NM_001001671.3):c.1828G>A (p.E610K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19407204C>T" "" "VUS" "" "0000575203" "0" "50" "X" "19433286" "19433286" "subst" "0" "01943" "MAP3K15_000066" "g.19433286T>C" "" "" "" "MAP3K15(NM_001001671.3):c.1529A>G (p.N510S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19415168T>C" "" "VUS" "" "0000575205" "0" "30" "X" "19443746" "19443746" "subst" "0.0000536653" "01943" "MAP3K15_000068" "g.19443746C>T" "" "" "" "MAP3K15(NM_001001671.3):c.1342G>A (p.D448N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19425628C>T" "" "likely benign" "" "0000575206" "0" "30" "X" "19475074" "19475074" "subst" "0.0000594227" "01943" "MAP3K15_000069" "g.19475074C>T" "" "" "" "MAP3K15(NM_001001671.3):c.952G>A (p.D318N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19456956C>T" "" "likely benign" "" "0000575207" "0" "50" "X" "19482440" "19482440" "subst" "0" "01943" "MAP3K15_000070" "g.19482440G>A" "" "" "" "MAP3K15(NM_001001671.3):c.610C>T (p.R204*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19464322G>A" "" "VUS" "" "0000575208" "0" "30" "X" "19482454" "19482454" "subst" "0.00542817" "01804" "MAP3K15_000071" "g.19482454C>T" "" "" "" "MAP3K15(NM_001001671.3):c.596G>A (p.(Ser199Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19464336C>T" "" "likely benign" "" "0000619382" "0" "30" "X" "19364667" "19364667" "subst" "0.0000154595" "01943" "MAP3K15_000072" "g.19364667T>A" "" "" "" "PDHA1(NM_001173454.1):c.97T>A (p.S33T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19346549T>A" "" "likely benign" "" "0000619383" "0" "30" "X" "19373556" "19373556" "subst" "0.000246115" "01943" "MAP3K15_000073" "g.19373556G>A" "" "" "" "PDHA1(NM_001173454.1):c.807G>A (p.T269=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19355438G>A" "" "likely benign" "" "0000619384" "0" "30" "X" "19373571" "19373571" "subst" "0.0000615281" "01943" "MAP3K15_000074" "g.19373571G>A" "" "" "" "PDHA1(NM_001173454.1):c.822G>A (p.A274=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19355453G>A" "" "likely benign" "" "0000619386" "0" "50" "X" "19377140" "19377165" "dup" "0" "01804" "MAP3K15_000076" "g.19377140_19377165dup" "" "" "" "PDHA1(NM_000284.3):c.1005_1006insAAGGTACAGTCACTTGTTCATGGTGG (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19359022_19359047dup" "" "VUS" "" "0000619387" "0" "30" "X" "19425363" "19425363" "subst" "0.000316232" "01943" "MAP3K15_000077" "g.19425363A>G" "" "" "" "MAP3K15(NM_001001671.3):c.1787T>C (p.V596A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19407245A>G" "" "likely benign" "" "0000619388" "0" "30" "X" "19475062" "19475062" "subst" "0.0000894294" "01943" "MAP3K15_000079" "g.19475062T>C" "" "" "" "MAP3K15(NM_001001671.3):c.964A>G (p.I322V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19456944T>C" "" "likely benign" "" "0000624550" "0" "30" "X" "19449715" "19449715" "subst" "0" "01943" "MAP3K15_000078" "g.19449715G>A" "" "" "" "MAP3K15(NM_001001671.3):c.1007C>T (p.T336I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19431597G>A" "" "likely benign" "" "0000675103" "21" "50" "X" "19478185" "19478185" "subst" "0.0000665497" "00006" "MAP3K15_000080" "g.19478185C>T" "" "{PMID:Pannone 2020:32721402}, {DOI:Pannone 2020:10.1016/j.ajhg.2020.06.018}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000682328" "0" "90" "X" "19375796" "19375799" "dup" "0" "02329" "PDHA1_000036" "g.19375796_19375799dup" "" "" "" "PDHA1(NM_000284.4):c.858_861dupTTAC (p.R288Lfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000682329" "0" "30" "X" "19377660" "19377660" "subst" "0.0000559391" "01943" "MAP3K15_000081" "g.19377660G>T" "" "" "" "PDHA1(NM_001173454.1):c.1176G>T (p.T392=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682330" "0" "30" "X" "19387194" "19387194" "subst" "0.0000236368" "01943" "MAP3K15_000082" "g.19387194C>T" "" "" "" "MAP3K15(NM_001001671.3):c.3544G>A (p.E1182K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693514" "0" "30" "X" "19369513" "19369513" "subst" "0.0000563399" "01943" "PDHA1_000018" "g.19369513G>A" "" "" "" "PDHA1(NM_000284.3):c.406G>A (p.(Ala136Thr)), PDHA1(NM_000284.4):c.406G>A (p.A136T), PDHA1(NM_001173454.1):c.520G>A (p.A174T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693515" "0" "50" "X" "19416408" "19416408" "subst" "0" "01943" "MAP3K15_000083" "g.19416408C>A" "" "" "" "MAP3K15(NM_001001671.3):c.2002G>T (p.A668S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693516" "0" "30" "X" "19433376" "19433376" "subst" "0.000566156" "01943" "MAP3K15_000041" "g.19433376C>A" "" "" "" "MAP3K15(NM_001001671.3):c.1440-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693517" "0" "30" "X" "19482393" "19482393" "subst" "0.0000648715" "01943" "MAP3K15_000084" "g.19482393C>G" "" "" "" "MAP3K15(NM_001001671.3):c.657G>C (p.P219=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693518" "0" "50" "X" "19482517" "19482517" "subst" "0" "01943" "MAP3K15_000085" "g.19482517C>G" "" "" "" "MAP3K15(NM_001001671.3):c.533G>C (p.S178T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728748" "0" "30" "X" "19373632" "19373632" "subst" "0.000117697" "01943" "MAP3K15_000086" "g.19373632C>G" "" "" "" "PDHA1(NM_001173454.1):c.873+10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728749" "0" "50" "X" "19375821" "19375821" "subst" "0" "02329" "MAP3K15_000056" "g.19375821A>G" "" "" "" "PDHA1(NM_001173454.1):c.997A>G (p.S333G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728750" "0" "90" "X" "19377070" "19377073" "del" "0" "02329" "MAP3K15_000075" "g.19377070_19377073del" "" "" "" "PDHA1(NM_001173454.2):c.1050_1053delTAAG (p.S350Rfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000810221" "0" "30" "X" "19373842" "19373842" "subst" "0.000447705" "01943" "MAP3K15_000087" "g.19373842A>G" "" "" "" "PDHA1(NM_001173454.1):c.912A>G (p.T304=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810222" "0" "30" "X" "19377712" "19377712" "subst" "0.000139845" "01943" "MAP3K15_000058" "g.19377712G>A" "" "" "" "PDHA1(NM_000284.3):c.1114G>A (p.(Asp372Asn)), PDHA1(NM_001173454.1):c.1228G>A (p.D410N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810223" "0" "30" "X" "19387250" "19387250" "subst" "0" "01943" "MAP3K15_000088" "g.19387250G>T" "" "" "" "MAP3K15(NM_001001671.3):c.3488C>A (p.T1163N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810224" "0" "30" "X" "19390913" "19390913" "subst" "0.0000170258" "01943" "MAP3K15_000089" "g.19390913C>T" "" "" "" "MAP3K15(NM_001001671.3):c.2966G>A (p.R989Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856511" "0" "30" "X" "19372611" "19372611" "subst" "0" "01943" "MAP3K15_000090" "g.19372611G>A" "" "" "" "PDHA1(NM_001173454.1):c.627G>A (p.V209=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856512" "0" "50" "X" "19431516" "19431516" "subst" "0" "01943" "MAP3K15_000095" "g.19431516C>G" "" "" "" "MAP3K15(NM_001001671.3):c.1657G>C (p.E553Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856513" "0" "50" "X" "19433368" "19433368" "subst" "0" "01943" "MAP3K15_000096" "g.19433368G>A" "" "" "" "MAP3K15(NM_001001671.3):c.1447C>T (p.R483*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867261" "0" "90" "X" "19372653" "19372653" "subst" "0" "01804" "MAP3K15_000091" "g.19372653A>G" "" "" "" "PDHA1(NM_000284.3):c.555A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000867263" "0" "30" "X" "19377768" "19377768" "subst" "0.0000671667" "01943" "MAP3K15_000092" "g.19377768T>C" "" "" "" "PDHA1(NM_001173454.1):c.1284T>C (p.S428=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867264" "0" "50" "X" "19378922" "19378922" "subst" "0" "01943" "MAP3K15_000093" "g.19378922G>A" "" "" "" "MAP3K15(NM_001001671.3):c.3887C>T (p.A1296V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867265" "0" "30" "X" "19431512" "19431512" "subst" "0.0000228496" "01943" "MAP3K15_000094" "g.19431512C>T" "" "" "" "MAP3K15(NM_001001671.3):c.1661G>A (p.R554K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896054" "0" "30" "X" "19369399" "19369399" "subst" "0" "02327" "MAP3K15_000097" "g.19369399G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896055" "0" "30" "X" "19369513" "19369513" "subst" "0.0000563399" "02327" "PDHA1_000018" "g.19369513G>A" "" "" "" "PDHA1(NM_000284.3):c.406G>A (p.(Ala136Thr)), PDHA1(NM_000284.4):c.406G>A (p.A136T), PDHA1(NM_001173454.1):c.520G>A (p.A174T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896056" "0" "30" "X" "19443725" "19443725" "subst" "0.000792336" "02326" "MAP3K15_000098" "g.19443725C>T" "" "" "" "MAP3K15(NM_001001671.3):c.1363G>A (p.V455I)" "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 MAP3K15 ## Count = 105 "{{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}}" "0000001822" "00000558" "50" "720" "-66" "720" "-66" "c.720-66dup" "r.(=)" "p.(=)" "" "0000002833" "00000558" "50" "3566" "213" "3566" "213" "c.3566+213del" "r.(=)" "p.(=)" "" "0000002834" "00000558" "50" "2066" "162" "2066" "162" "c.2066+162del" "r.(=)" "p.(=)" "" "0000002835" "00000558" "50" "720" "-66" "720" "-66" "c.720-66dup" "r.(=)" "p.(=)" "" "0000006460" "00000558" "50" "889" "-231" "889" "-231" "c.889-231T>C" "r.(=)" "p.(=)" "" "0000006461" "00000558" "50" "720" "-23" "720" "-23" "c.720-23A>T" "r.(=)" "p.(=)" "" "0000006462" "00000558" "50" "574" "0" "574" "0" "c.574G>A" "r.(?)" "p.(Ala192Thr)" "" "0000008512" "00000558" "50" "889" "-231" "889" "-231" "c.889-231T>C" "r.(=)" "p.(=)" "" "0000008513" "00000558" "50" "720" "-23" "720" "-23" "c.720-23A>T" "r.(=)" "p.(=)" "" "0000008514" "00000558" "50" "720" "-66" "720" "-66" "c.720-66dup" "r.(=)" "p.(=)" "" "0000008515" "00000558" "50" "574" "0" "574" "0" "c.574G>A" "r.(?)" "p.(Ala192Thr)" "" "0000010835" "00000558" "50" "2066" "162" "2066" "162" "c.2066+162del" "r.(=)" "p.(=)" "" "0000010836" "00000558" "50" "720" "-66" "720" "-66" "c.720-66dup" "r.(=)" "p.(=)" "" "0000067247" "00000558" "30" "2512" "0" "2512" "0" "c.2512G>A" "r.(?)" "p.(Gly838Ser)" "19" "0000251923" "00000558" "30" "7027" "0" "7027" "0" "c.*3085T>G" "r.(=)" "p.(=)" "" "0000253529" "00000558" "10" "5676" "0" "5676" "0" "c.*1734T>G" "r.(=)" "p.(=)" "" "0000291462" "00000558" "50" "1172" "0" "1172" "0" "c.1172G>A" "r.(?)" "p.(Arg391His)" "" "0000291463" "00000558" "50" "1421" "0" "1421" "0" "c.1421A>G" "r.(?)" "p.(Lys474Arg)" "" "0000291464" "00000558" "50" "1477" "0" "1477" "0" "c.1477C>T" "r.(?)" "p.(Arg493Trp)" "" "0000291465" "00000558" "50" "2067" "-1" "2067" "-1" "c.2067-1G>C" "r.spl?" "p.?" "" "0000291466" "00000558" "50" "236" "0" "236" "0" "c.236C>G" "r.(?)" "p.(Pro79Arg)" "" "0000291467" "00000558" "30" "2517" "0" "2517" "0" "c.2517C>T" "r.(?)" "p.(Cys839=)" "" "0000291468" "00000558" "10" "3364" "0" "3364" "0" "c.3364C>T" "r.(?)" "p.(Arg1122Ter)" "" "0000296865" "00000558" "50" "20673" "0" "20673" "0" "c.*16731C>T" "r.(=)" "p.(=)" "" "0000296866" "00000558" "30" "15368" "0" "15368" "0" "c.*11426C>T" "r.(=)" "p.(=)" "" "0000296867" "00000558" "30" "13296" "0" "13296" "0" "c.*9354C>T" "r.(=)" "p.(=)" "" "0000296868" "00000558" "30" "11492" "0" "11492" "0" "c.*7550A>G" "r.(=)" "p.(=)" "" "0000296869" "00000558" "10" "18945" "0" "18945" "0" "c.*15003del" "r.(?)" "p.(=)" "" "0000296870" "00000558" "50" "18084" "0" "18084" "0" "c.*14142G>C" "r.(=)" "p.(=)" "" "0000296871" "00000558" "30" "8919" "0" "8919" "0" "c.*4977G>A" "r.(=)" "p.(=)" "" "0000300685" "00000558" "30" "13296" "0" "13296" "0" "c.*9354C>T" "r.(=)" "p.(=)" "" "0000305404" "00000558" "50" "8977" "0" "8977" "0" "c.*5035C>G" "r.(=)" "p.(=)" "" "0000333352" "00000558" "30" "18115" "0" "18115" "0" "c.*14173C>T" "r.(=)" "p.(=)" "" "0000333354" "00000558" "50" "5676" "0" "5676" "0" "c.*1734T>G" "r.(=)" "p.(=)" "" "0000333356" "00000558" "30" "3857" "4" "3857" "4" "c.3857+4A>G" "r.spl?" "p.?" "" "0000333358" "00000558" "50" "3567" "-9" "3567" "-8" "c.3567-9_3567-8del" "r.(=)" "p.(=)" "" "0000333359" "00000558" "50" "3567" "-12" "3567" "-8" "c.3567-12_3567-8del" "r.(=)" "p.(=)" "" "0000333360" "00000558" "50" "3567" "-8" "3567" "-8" "c.3567-8del" "r.(=)" "p.(=)" "" "0000333362" "00000558" "50" "3406" "0" "3406" "0" "c.3406C>T" "r.(?)" "p.(Arg1136Ter)" "" "0000333365" "00000558" "30" "3294" "0" "3294" "0" "c.3294C>T" "r.(?)" "p.(Ala1098=)" "" "0000333366" "00000558" "50" "3085" "0" "3085" "0" "c.3085A>C" "r.(?)" "p.(Asn1029His)" "" "0000333367" "00000558" "30" "3072" "0" "3072" "0" "c.3072C>G" "r.(?)" "p.(Asn1024Lys)" "" "0000333370" "00000558" "50" "2177" "0" "2177" "0" "c.2177T>C" "r.(?)" "p.(Met726Thr)" "" "0000333372" "00000558" "50" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Glu552Lys)" "" "0000333373" "00000558" "30" "1480" "0" "1480" "0" "c.1480C>T" "r.(?)" "p.(Arg494Cys)" "" "0000333376" "00000558" "50" "522" "0" "522" "0" "c.522dup" "r.(?)" "p.(Thr175HisfsTer19)" "" "0000333377" "00000558" "50" "238" "0" "238" "0" "c.238G>T" "r.(?)" "p.(Glu80Ter)" "" "0000341724" "00000558" "50" "14657" "0" "14657" "0" "c.*10715C>T" "r.(=)" "p.(=)" "" "0000349375" "00000558" "50" "9254" "0" "9254" "0" "c.*5312G>T" "r.(=)" "p.(=)" "" "0000393045" "00000558" "50" "2644" "0" "2644" "0" "c.2644C>T" "r.(?)" "p.(Arg882*)" "" "0000393046" "00000558" "50" "3751" "0" "3751" "0" "c.3751C>G" "r.(?)" "p.(Gln1251Glu)" "" "0000393047" "00000558" "50" "3906" "0" "3906" "0" "c.3906G>C" "r.(?)" "p.(Arg1302Ser)" "" "0000393048" "00000558" "50" "3134" "0" "3134" "0" "c.3134T>C" "r.(?)" "p.(Val1045Ala)" "" "0000575181" "00000558" "50" "18066" "0" "18066" "0" "c.*14124A>T" "r.(=)" "p.(=)" "" "0000575183" "00000558" "30" "15314" "0" "15314" "0" "c.*11372T>G" "r.(=)" "p.(=)" "" "0000575184" "00000558" "50" "14665" "0" "14665" "0" "c.*10723C>G" "r.(=)" "p.(=)" "" "0000575185" "00000558" "70" "13338" "0" "13338" "0" "c.*9396C>G" "r.(=)" "p.(=)" "" "0000575186" "00000558" "50" "13296" "0" "13296" "0" "c.*9354C>T" "r.(=)" "p.(=)" "" "0000575187" "00000558" "50" "10194" "0" "10194" "0" "c.*6252G>C" "r.(=)" "p.(=)" "" "0000575188" "00000558" "10" "9352" "0" "9352" "0" "c.*5410G>A" "r.(=)" "p.(=)" "" "0000575191" "00000558" "30" "5097" "0" "5097" "0" "c.*1155C>T" "r.(=)" "p.(=)" "" "0000575192" "00000558" "90" "5078" "0" "5078" "0" "c.*1136C>T" "r.(=)" "p.(=)" "" "0000575198" "00000558" "30" "2753" "0" "2753" "0" "c.2753G>A" "r.(?)" "p.(Arg918Gln)" "" "0000575199" "00000558" "30" "2549" "0" "2549" "0" "c.2549C>T" "r.(?)" "p.(Pro850Leu)" "" "0000575200" "00000558" "30" "2512" "0" "2512" "0" "c.2512G>A" "r.(?)" "p.(Gly838Ser)" "" "0000575201" "00000558" "50" "2308" "0" "2308" "0" "c.2308G>A" "r.(?)" "p.(Val770Met)" "" "0000575202" "00000558" "50" "1828" "0" "1828" "0" "c.1828G>A" "r.(?)" "p.(Glu610Lys)" "" "0000575203" "00000558" "50" "1529" "0" "1529" "0" "c.1529A>G" "r.(?)" "p.(Asn510Ser)" "" "0000575205" "00000558" "30" "1342" "0" "1342" "0" "c.1342G>A" "r.(?)" "p.(Asp448Asn)" "" "0000575206" "00000558" "30" "952" "0" "952" "0" "c.952G>A" "r.(?)" "p.(Asp318Asn)" "" "0000575207" "00000558" "50" "610" "0" "610" "0" "c.610C>T" "r.(?)" "p.(Arg204Ter)" "" "0000575208" "00000558" "30" "596" "0" "596" "0" "c.596G>A" "r.(?)" "p.(Ser199Asn)" "" "0000619382" "00000558" "30" "18142" "0" "18142" "0" "c.*14200A>T" "r.(=)" "p.(=)" "" "0000619383" "00000558" "30" "9253" "0" "9253" "0" "c.*5311C>T" "r.(=)" "p.(=)" "" "0000619384" "00000558" "30" "9238" "0" "9238" "0" "c.*5296C>T" "r.(=)" "p.(=)" "" "0000619386" "00000558" "50" "5644" "0" "5669" "0" "c.*1702_*1727dup" "r.(=)" "p.(=)" "" "0000619387" "00000558" "30" "1787" "0" "1787" "0" "c.1787T>C" "r.(?)" "p.(Val596Ala)" "" "0000619388" "00000558" "30" "964" "0" "964" "0" "c.964A>G" "r.(?)" "p.(Ile322Val)" "" "0000624550" "00000558" "30" "1007" "0" "1007" "0" "c.1007C>T" "r.(?)" "p.(Thr336Ile)" "" "0000675103" "00000558" "50" "806" "0" "806" "0" "c.806G>A" "r.(?)" "p.(Arg269Gln)" "" "0000682328" "00000558" "90" "7012" "0" "7015" "0" "c.*3070_*3073dup" "r.(=)" "p.(=)" "" "0000682329" "00000558" "30" "5149" "0" "5149" "0" "c.*1207C>A" "r.(=)" "p.(=)" "" "0000682330" "00000558" "30" "3544" "0" "3544" "0" "c.3544G>A" "r.(?)" "p.(Glu1182Lys)" "" "0000693514" "00000558" "30" "13296" "0" "13296" "0" "c.*9354C>T" "r.(=)" "p.(=)" "" "0000693515" "00000558" "50" "2002" "0" "2002" "0" "c.2002G>T" "r.(?)" "p.(Ala668Ser)" "" "0000693516" "00000558" "30" "1440" "-1" "1440" "-1" "c.1440-1G>T" "r.spl?" "p.?" "" "0000693517" "00000558" "30" "657" "0" "657" "0" "c.657G>C" "r.(?)" "p.(Pro219=)" "" "0000693518" "00000558" "50" "533" "0" "533" "0" "c.533G>C" "r.(?)" "p.(Ser178Thr)" "" "0000728748" "00000558" "30" "9177" "0" "9177" "0" "c.*5235G>C" "r.(=)" "p.(=)" "" "0000728749" "00000558" "50" "6988" "0" "6988" "0" "c.*3046T>C" "r.(=)" "p.(=)" "" "0000728750" "00000558" "90" "5739" "0" "5742" "0" "c.*1797_*1800del" "r.(=)" "p.(=)" "" "0000810221" "00000558" "30" "8967" "0" "8967" "0" "c.*5025T>C" "r.(=)" "p.(=)" "" "0000810222" "00000558" "30" "5097" "0" "5097" "0" "c.*1155C>T" "r.(=)" "p.(=)" "" "0000810223" "00000558" "30" "3488" "0" "3488" "0" "c.3488C>A" "r.(?)" "p.(Thr1163Asn)" "" "0000810224" "00000558" "30" "2966" "0" "2966" "0" "c.2966G>A" "r.(?)" "p.(Arg989Gln)" "" "0000856511" "00000558" "30" "10198" "0" "10198" "0" "c.*6256C>T" "r.(=)" "p.(=)" "" "0000856512" "00000558" "50" "1657" "0" "1657" "0" "c.1657G>C" "r.(?)" "p.(Glu553Gln)" "" "0000856513" "00000558" "50" "1447" "0" "1447" "0" "c.1447C>T" "r.(?)" "p.(Arg483*)" "" "0000867261" "00000558" "90" "10156" "0" "10156" "0" "c.*6214T>C" "r.(=)" "p.(=)" "" "0000867263" "00000558" "30" "5041" "0" "5041" "0" "c.*1099A>G" "r.(=)" "p.(=)" "" "0000867264" "00000558" "50" "3887" "0" "3887" "0" "c.3887C>T" "r.(?)" "p.(Ala1296Val)" "" "0000867265" "00000558" "30" "1661" "0" "1661" "0" "c.1661G>A" "r.(?)" "p.(Arg554Lys)" "" "0000896054" "00000558" "30" "13410" "0" "13410" "0" "c.*9468C>T" "r.(=)" "p.(=)" "" "0000896055" "00000558" "30" "13296" "0" "13296" "0" "c.*9354C>T" "r.(=)" "p.(=)" "" "0000896056" "00000558" "30" "1363" "0" "1363" "0" "c.1363G>A" "r.(?)" "p.(Val455Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000000209" "0000001822" "0000000209" "0000002833" "0000000209" "0000002834" "0000000209" "0000002835" "0000000209" "0000006460" "0000000209" "0000006461" "0000000209" "0000006462" "0000000210" "0000008512" "0000000210" "0000008513" "0000000210" "0000008514" "0000000210" "0000008515" "0000000210" "0000010835" "0000000210" "0000010836" "0000039639" "0000067247" "0000173188" "0000393045" "0000173189" "0000393046" "0000173190" "0000393047" "0000173191" "0000393048" "0000308224" "0000675103"