### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FBXL4) # 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}}" "FBXL4" "F-box and leucine-rich repeat protein 4" "6" "q16.1-q16.3" "unknown" "NG_033903.1" "UD_132610421310" "" "https://www.LOVD.nl/FBXL4" "" "1" "13601" "26235" "605654" "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/FBXL4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-07-21 12:12:50" "00006" "2024-09-25 11:51:01" ## 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}}" "00024299" "FBXL4" "transcript variant 1" "002" "NM_012160.4" "" "NP_036292.2" "" "" "" "-391" "2419" "1866" "99395882" "99321601" "00006" "2017-07-21 12:16:16" "" "" ## 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" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03958" "MTDPS13" "mitochondrial DNA depletion syndrome, type 13 (MTDPS-13, encephalomyopathic type)" "AR" "615471" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05374" "MTDPS" "mitochondrial DNA depletion syndrome (MTDPS)" "" "" "" "" "" "00006" "2018-01-01 15:41:06" "" "" "05534" "mitochondrial" "mitochondrial disorder" "" "" "" "maternal mitochondrial" "" "00006" "2018-12-22 14:29:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "FBXL4" "03958" ## Individuals ## Do not remove or alter this header ## ## Count = 69 "{{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}}" "00080866" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00080914" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00080957" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00080989" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00103904" "" "" "" "1" "" "00006" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "United States" "" "0" "" "" "" "28327206-PatBH6041_1" "00107940" "" "" "" "2" "" "02179" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "2-generation family, 2 affecteds (2F), unaffected parents" "F" "" "" "" "0" "" "" "Arab" "28940506-Fam1PatS1" "00107941" "" "" "" "1" "" "02179" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "M" "yes" "" "" "0" "" "" "Arab" "28940506-Fam2PatS3" "00107943" "" "" "" "1" "" "02179" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "M" "" "" "" "0" "" "" "Arab" "28940506-Fam3PatS4" "00107944" "" "" "" "1" "" "02179" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "F" "yes" "" "" "0" "" "" "Arab" "28940506-Fam4PatS5" "00107952" "" "" "" "1" "" "02179" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "M" "yes" "" "" "0" "" "" "Arab" "28940506-Fam5PatS6" "00107953" "" "" "" "1" "" "02179" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "F" "yes" "" "" "0" "" "" "Arab" "28940506-Fam6PatS7" "00107954" "" "" "" "1" "" "02179" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "M" "yes" "" "" "0" "" "" "Arab" "28940506-Fam7PatS8" "00107955" "" "" "" "1" "" "02179" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "M" "yes" "" "" "0" "" "" "Arab" "28940506-Fam8PatS9" "00107956" "" "" "" "1" "" "02179" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "M" "yes" "" "" "0" "" "" "Arab" "28940506-Fam9PatS10" "00107957" "" "" "" "1" "" "02179" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "M" "yes" "" "" "0" "" "" "Arab" "28940506-Fam10PatS11" "00107958" "" "" "" "1" "" "02179" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "F" "no" "" "" "0" "" "" "Arab" "28940506-Fam20PatS26" "00107959" "" "" "" "1" "" "02179" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "F" "yes" "" "" "0" "" "" "Arab" "28940506-Fam21PatS27" "00107960" "" "" "" "1" "" "02179" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "F" "no" "" "" "0" "" "" "Hispanic/white" "28940506-Fam22PatS28" "00107961" "" "" "" "1" "" "02179" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "F" "no" "India" "" "0" "" "" "Indian" "28940506-Fam23PatS29" "00107962" "" "" "" "1" "" "02179" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "M" "?" "" "" "0" "" "" "Hispanic" "28940506-Fam24Pat30" "00107963" "" "" "" "1" "" "02179" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "F" "no" "United States" "" "0" "" "" "white" "28940506-Fam25PatS31" "00107964" "" "" "" "1" "" "02179" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "M" "no" "United States" "" "0" "" "" "white" "28940506-Fam26PatS32" "00107965" "" "" "" "1" "" "02179" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "M" "no" "United States" "" "0" "" "" "white" "28940506-Fam27PatS33" "00107966" "" "" "" "1" "" "02179" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "M" "no" "" "" "0" "" "" "Arab" "28940506-Fam28PatS35" "00107967" "" "" "" "1" "" "02179" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "F" "yes" "" "" "0" "" "" "Arab" "28940506-Fam31PatS37" "00110536" "" "" "" "1" "" "00006" "{PMID:Dai 2017:27743463}, {DOI:Dai 2017:10.1111/cge.12894}" "" "M" "" "United States" "" "0" "" "" "Arab" "27743463-PatS1" "00110537" "" "" "" "1" "" "00006" "{PMID:Dai 2017:27743463}, {DOI:Dai 2017:10.1111/cge.12894}" "" "F" "" "Canada" "" "0" "" "" "French Canadian" "27743463-PatS2" "00110538" "" "" "" "1" "" "00006" "{PMID:Dai 2017:27743463}, {DOI:Dai 2017:10.1111/cge.12894}" "" "M" "" "United States" "" "0" "" "" "Arab" "27743463-PatS3" "00110539" "" "" "" "1" "" "00006" "{PMID:Dai 2017:27743463}, {DOI:Dai 2017:10.1111/cge.12894}" "" "F" "" "United States" "" "0" "" "" "" "27743463-PatS4" "00110540" "" "" "" "1" "" "00006" "{PMID:Dai 2017:27743463}, {DOI:Dai 2017:10.1111/cge.12894}" "" "F" "" "United States" "" "0" "" "" "Hispanic" "27743463-PatS5" "00110541" "" "" "" "1" "" "00006" "{PMID:Dai 2017:27743463}, {DOI:Dai 2017:10.1111/cge.12894}" "" "F" "" "United States" "" "0" "" "" "white" "27743463-PatS6" "00110542" "" "" "" "1" "" "00006" "{PMID:Dai 2017:27743463}, {DOI:Dai 2017:10.1111/cge.12894}" "" "M" "" "United States" "" "0" "" "" "Arab" "27743463-PatS7" "00110543" "" "" "" "1" "" "00006" "{PMID:Dai 2017:27743463}, {DOI:Dai 2017:10.1111/cge.12894}" "" "M" "" "United States" "" "0" "" "" "Arab" "27743463-PatS8" "00110544" "" "" "" "1" "" "00006" "{PMID:Dai 2017:27743463}, {DOI:Dai 2017:10.1111/cge.12894}" "" "M" "" "United States" "" "0" "" "" "Hispanic" "27743463-PatS9" "00110545" "" "" "" "1" "" "00006" "{PMID:Dai 2017:27743463}, {DOI:Dai 2017:10.1111/cge.12894}" "" "M" "" "United States" "" "0" "" "" "white" "27743463-PatS10" "00147089" "" "" "" "1" "" "00006" "23993194-Fam1" "4-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "{PMID:Gai 2013:23993194}" "00147090" "" "" "" "3" "" "00006" "23993194-Fam2" "4-generation family, 3 affecteds (3M), unaffected heterozygous carrier parents" "M" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "{PMID:Gai 2013:23993194}" "00147091" "" "" "" "1" "" "00006" "23993194-Fam3" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "Europe" "{PMID:Gai 2013:23993194}" "00147092" "" "" "" "1" "" "00006" "23993194-Fam4" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Albania" "" "0" "" "" "" "{PMID:Gai 2013:23993194}" "00147093" "" "" "" "1" "" "00006" "23993194-Fam5" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Bahrain" "" "0" "" "" "Arab" "{PMID:Gai 2013:23993194}" "00147094" "" "" "" "1" "" "00006" "23993194-Fam6" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Germany" "" "0" "" "" "" "{PMID:Gai 2013:23993194}" "00147095" "" "" "" "1" "" "00006" "23993194-Fam7" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Turkey" "" "0" "" "" "" "{PMID:Gai 2013:23993194}" "00147096" "" "" "" "5" "" "00006" "23993193-Fam1" "4-generation family, 5 affecteds (F, 4M), unaffected heterozygous carrier parents" "F;M" "yes" "" "" "0" "" "" "Arab" "{PMID:Bonnen 2013:23993193}" "00147097" "" "" "" "5" "" "00006" "23993193-Fam2" "4-generation family, 5 affecteds (3F, 2M), unaffected heterozygous carrier parents" "F;M" "yes" "" "" "0" "" "" "Arab" "{PMID:Bonnen 2013:23993193}" "00147098" "" "" "" "1" "" "00006" "23993193-Fam3" "3-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "" "" "0" "" "" "Arab" "{PMID:Bonnen 2013:23993193}" "00147099" "" "" "" "1" "" "00006" "25868664-Pat1" "" "F" "" "" "" "0" "" "" "" "{PMID:Huemer 2015:25868664}" "00147100" "" "" "" "1" "" "00006" "25868664-Pat2" "" "M" "" "" "" "0" "" "" "" "{PMID:Huemer 2015:25868664}" "00147101" "" "" "" "1" "" "00006" "25868664-Pat5" "" "M" "" "" "" "0" "" "" "" "{PMID:Huemer 2015:25868664}" "00147102" "" "" "" "1" "" "00006" "25868664-Pat10" "" "F" "" "" "" "0" "" "" "" "{PMID:Huemer 2015:25868664}" "00147103" "" "" "" "1" "" "00006" "25868664-Pat13" "" "M" "" "" "" "0" "" "" "" "{PMID:Huemer 2015:25868664}" "00147104" "" "" "" "1" "" "00006" "25868664-Pat16" "" "M" "" "" "" "0" "" "" "" "{PMID:Huemer 2015:25868664}" "00147105" "" "" "" "1" "" "00006" "25868664-Pat21" "" "F" "" "" "" "0" "" "" "" "{PMID:Huemer 2015:25868664}" "00147106" "" "" "" "1" "" "00006" "25868664-Pat17" "" "M" "" "" "" "0" "" "" "" "{PMID:Huemer 2015:25868664}" "00147107" "" "" "" "1" "" "00006" "25868664-Pat20" "" "F" "" "" "" "0" "" "" "" "{PMID:Huemer 2015:25868664}" "00147108" "" "" "" "1" "" "00006" "25868664-Pat3" "" "M" "" "" "" "0" "" "" "" "{PMID:Huemer 2015:25868664}" "00147109" "" "" "" "1" "" "00006" "25868664-Pat19" "" "M" "" "" "" "0" "" "" "" "{PMID:Huemer 2015:25868664}" "00147110" "" "" "" "1" "" "00006" "25868664-Pat14" "" "M" "" "" "" "0" "" "" "" "{PMID:Huemer 2015:25868664}" "00147111" "" "" "" "1" "" "00006" "25868664-Pat6" "" "M" "" "" "" "0" "" "" "" "{PMID:Huemer 2015:25868664}" "00147112" "" "" "" "1" "" "00006" "25868664-Pat18" "" "M" "" "" "" "0" "" "" "" "{PMID:Huemer 2015:25868664}" "00147113" "" "" "" "1" "" "00006" "25868664-Pat15" "" "F" "" "" "" "0" "" "" "" "{PMID:Huemer 2015:25868664}" "00147114" "" "" "" "1" "" "00006" "25868664-Pat11" "" "M" "" "" "" "0" "" "" "" "{PMID:Huemer 2015:25868664}" "00147115" "" "" "" "1" "" "00006" "25868664-Pat8" "" "F" "" "" "" "0" "" "" "" "{PMID:Huemer 2015:25868664}" "00147116" "" "" "" "1" "" "00006" "27099744-Pat1" "" "F" "" "Netherlands" "" "0" "" "" "" "{PMID:van Rij 2016:27099744}" "00164348" "" "" "" "1" "" "00719" "Jansen, submitted" "" "F" "" "" "" "0" "" "" "" "Jansen et al. Patient 10" "00274141" "" "" "" "1" "" "00006" "{PMID:Pronicka 2016:27290639}" "miscarriage" "M" "" "Poland" "" "0" "" "" "" "Pat3" "00274180" "" "" "" "1" "" "00006" "{PMID:Pronicka 2016:27290639}" "empty ovum" "F" "" "Poland" "" "0" "" "" "" "Pat52" "00274183" "" "" "" "1" "" "00006" "{PMID:Pronicka 2016:27290639}" "" "F" "" "Poland" "" "0" "" "" "" "Pat55" "00361567" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "11DG0298" "00454703" "" "" "" "1" "" "00095" "{PMID:Legati 2016:26968897}" "" "M" "" "" "" "0" "" "" "" "NGSP70" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 69 "{{individualid}}" "{{diseaseid}}" "00080866" "03958" "00080914" "03958" "00080957" "03958" "00080989" "03958" "00103904" "00198" "00107940" "03958" "00107941" "03958" "00107943" "03958" "00107944" "03958" "00107952" "03958" "00107953" "03958" "00107954" "03958" "00107955" "03958" "00107956" "03958" "00107957" "03958" "00107958" "03958" "00107959" "03958" "00107960" "03958" "00107961" "03958" "00107962" "03958" "00107963" "03958" "00107964" "03958" "00107965" "03958" "00107966" "03958" "00107967" "03958" "00110536" "03958" "00110537" "03958" "00110538" "03958" "00110539" "03958" "00110540" "03958" "00110541" "03958" "00110542" "03958" "00110543" "03958" "00110544" "03958" "00110545" "03958" "00147089" "05374" "00147090" "05374" "00147091" "05374" "00147092" "05374" "00147093" "05374" "00147094" "05374" "00147095" "05374" "00147096" "05374" "00147097" "05374" "00147098" "05374" "00147099" "05374" "00147100" "05374" "00147101" "05374" "00147102" "05374" "00147103" "05374" "00147104" "05374" "00147105" "05374" "00147106" "05374" "00147107" "05374" "00147108" "05374" "00147109" "05374" "00147110" "05374" "00147111" "05374" "00147112" "05374" "00147113" "05374" "00147114" "05374" "00147115" "05374" "00147116" "05374" "00164348" "00139" "00274141" "00198" "00274180" "00198" "00274183" "00198" "00361567" "00139" "00454703" "05534" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 03958, 05374, 05534 ## Count = 70 "{{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}}" "0000060435" "03958" "00080866" "01758" "Familial, autosomal recessive" "" "m DNA depletion syndrome 13 (encephalomyopathic type) (OMIM:615471)" "" "" "" "" "" "" "" "" "" "" "" "0000060483" "03958" "00080914" "01758" "Familial, autosomal recessive" "" "m DNA depletion syndrome 13 (encephalomyopathic type) (OMIM:615471)" "" "" "" "" "" "" "" "" "" "" "" "0000060526" "03958" "00080957" "01758" "Familial, autosomal recessive" "" "m DNA depletion syndrome 13 (encephalomyopathic type) (OMIM:615471)" "" "" "" "" "" "" "" "" "" "" "" "0000060558" "03958" "00080989" "01758" "Familial, autosomal recessive" "" "m DNA depletion syndrome 13 (encephalomyopathic type) (OMIM:615471)" "" "" "" "" "" "" "" "" "" "" "" "0000081831" "00198" "00103904" "00006" "Familial, autosomal recessive" "" "mitochondrial disorder: developmental delay, hypotonia, muscle weakness, autistic features, RTA, lactic acidosis" "" "" "" "" "" "" "" "" "" "" "" "0000085684" "03385" "00107940" "02179" "Familial, autosomal recessive" "" "short stature,developmental delay, hypotonia, feeding difficulties, inguinal/umbilical hernia,lactic acidemia, hyperammonemia," "" "" "" "" "" "" "" "" "" "" "" "0000085685" "03385" "00107941" "02179" "Familial, autosomal recessive" "" "IUGR,SGA,FTT, short stature, DD,hypotonia,feeding difficulties, lactic acidemia, hyperammonemia, dysmorphic" "" "" "" "" "" "" "" "" "" "" "" "0000085687" "03958" "00107943" "02179" "Familial, autosomal recessive" "" "FTT , Short stature, Microcephaly, Developmental delay, Hypotonia, Seizure, Movement disorder, Ataxia, White matter abnormalities, Cerebral atrophy, Peri/paraventricualr cysts, Thin corpus callosum, Cerebellar hypoplasia, Brain stem atrophy, Feeding difficulties, Lactic acidemia, Hyperammonemia , Depressed nasal bridge, Small feet" "" "" "" "" "" "" "" "" "" "" "" "0000085688" "03958" "00107944" "02179" "Familial, autosomal recessive" "" "SGA, FTT , Microcephaly, Developmental delay, Hypotonia, Seizure, Movement disorder, Nystagmus, Optic atrophy, Feeding difficulties, Liver dysfunction, Recurrent infections, Lactic acidemia, Hyperammonemia , Smooth philtrum, Short palpebral fissures, Epicanthus, Depressed nasal bridge, Narrow forehead, Small feet, Long eyelashes, Small hands" "" "" "" "" "" "" "" "" "" "" "" "0000085696" "03958" "00107952" "02179" "Familial, autosomal recessive" "" "Developmental delay, Hypotonia, Seizure, Movement disorder, White matter abnormalities, Cerebral atrophy, Basal ganglia abnormalities , Thin corpus callosum, Cerebellar hypoplasia, Arachnoid cyst, Brain stem atrophy, Lactate peak in MRS, Cardiomyopathy, Congenital heart disease, Nystagmus, Strabismus, Optic atrophy, Feeding difficulties, Inguinal / umbilical hernia, Undescended testis, Recurrent infections, Lactic acidemia, Hyperammonemia , Broad nasal bridge, Low set ears, Synophrys, Epicanthus, Long philtrum, Depressed nasal bridge, Narrow forehead, Long eyelashes" "" "" "" "" "" "" "" "" "" "" "" "0000085697" "03958" "00107953" "02179" "Familial, autosomal recessive" "" "FTT , Short stature, Developmental delay, Hypotonia, Peri/paraventricualr cysts, Enlarged cisterna magna, Congenital heart disease, Arrhythmia, Feeding difficulties, Inguinal / umbilical hernia, Lactic acidemia, Hyperammonemia" "" "" "" "" "" "" "" "" "" "" "" "0000085699" "03958" "00107955" "02179" "Familial, autosomal recessive" "" "FTT , Short stature, Developmental delay, Hypotonia, Peri/paraventricualr cysts, Enlarged cisterna magna, Congenital heart disease, Arrhythmia, Feeding difficulties, Inguinal / umbilical hernia, Lactic acidemia, Hyperammonemia" "" "" "" "" "" "" "" "" "" "" "" "0000085704" "03958" "00107954" "02179" "Familial, autosomal recessive" "" "FTT , Short stature, Developmental delay, Hypotonia, Peri/paraventricualr cysts, Enlarged cisterna magna, Congenital heart disease, Arrhythmia, Feeding difficulties, Inguinal / umbilical hernia, Lactic acidemia, Hyperammonemia" "" "" "" "" "" "" "" "" "" "" "" "0000085705" "03958" "00107955" "02179" "Familial, autosomal recessive" "" "FTT , Microcephaly, Developmental delay, Hypotonia, Seizure, White matter abnormalities, Cerebral atrophy, Arachnoid cyst, Cardiomyopathy, Congenital heart disease, Pulmonary hypertension, Nystagmus, , Feeding difficulties, Hypospadias, Undescended testis, Lactic acidemia, Hyperammonemia" "" "" "" "" "" "" "" "" "" "" "" "0000085706" "03958" "00107954" "02179" "Familial, autosomal recessive" "" "FTT , Microcephaly, Developmental delay, Hypotonia, White matter abnormalities, Basal ganglia abnormalities , Thin corpus callosum, Hypospadias" "" "" "" "" "" "" "" "" "" "" "" "0000085707" "03958" "00107956" "02179" "Familial, autosomal recessive" "" "FTT , Short stature, Microcephaly, Developmental delay, Hypotonia, Arrhythmia, Feeding difficulties, Lactic acidemia" "" "" "" "" "" "" "" "" "" "" "" "0000085708" "03958" "00107957" "02179" "Familial, autosomal recessive" "" "Microcephaly, Developmental delay, Hypotonia, Nystagmus, Strabismus" "" "" "" "" "" "" "" "" "" "" "" "0000085709" "03958" "00107958" "02179" "Familial, autosomal recessive" "" "SGA, FTT , Short stature, Microcephaly, Developmental delay, Hypotonia, Seizure, Movement disorder, Stroke-like episodes, White matter abnormalities, Cerebral atrophy, Lactate peak in MRS, Strabismus, Optic atrophy, Feeding difficulties, Recurrent infections, Neutropenia, Lactic acidemia, Thick eyebrows, Synophrys, Ptosis" "" "" "" "" "" "" "" "" "" "" "" "0000085710" "03958" "00107959" "02179" "Familial, autosomal recessive" "" "SGA, FTT , Short stature, Developmental delay, Hypotonia, White matter abnormalities, Hydrocephalus/ dilated ventricles, Lactate peak in MRS, Cardiomyopathy, Congenital heart disease, Nystagmus, Strabismus, Optic atrophy, Feeding difficulties, Recurrent infections, Lactic acidemia, Hyperammonemia , Broad nasal bridge, Low set ears, Short palpebral fissures, Epicanthus, Long philtrum, Prominent forehead, Depressed nasal bridge, High arched palate, Protruding ears, Small feet, Thin vermilion of upper lip, Wide nasal base, Long eyelashes, Almond shaped eyes, Broad forehead, Small hands, Brachycephaly, Syndactyly" "" "" "" "" "" "" "" "" "" "" "" "0000085711" "03958" "00107960" "02179" "Familial, autosomal recessive" "" "SGA, FTT , Short stature, Microcephaly, Developmental delay, Hypotonia, White matter abnormalities, Lactate peak in MRS, Feeding difficulties, Inguinal / umbilical hernia, Lactic acidemia, Hyperammonemia , Synophrys, Prominent forehead, Depressed nasal bridge, Upslanted palpebral fissure" "" "" "" "" "" "" "" "" "" "" "" "0000085713" "03958" "00107961" "02179" "Familial, autosomal recessive" "" "SGA, FTT , Short stature, Microcephaly, Developmental delay, Hypotonia, White matter abnormalities, Lactate peak in MRS, Cardiomyopathy, , Feeding difficulties, Lactic acidemia, Prominent forehead" "" "" "" "" "" "" "" "" "" "" "" "0000085714" "03958" "00107963" "02179" "Familial, autosomal recessive" "" "White matter abnormalities, Peri/paraventricualr cysts, Thin corpus callosum, Cerebellar hypoplasia, Hydrocephalus/ dilated ventricles, Strabismus, Feeding difficulties, Lactic acidemia, Hyperammonemia , Epicanthus, Long philtrum, Prominent forehead, Depressed nasal bridge, Plagiocephaly, Small feet, Thin vermilion of upper lip, Wide nasal base, Long eyelashes, Broad forehead, Small hands" "" "" "" "" "" "" "" "" "" "" "" "0000085715" "03958" "00107964" "02179" "Familial, autosomal recessive" "" "White matter abnormalities, Cerebral atrophy, Hydrocephalus/ dilated ventricles, Brain stem atrophy, Enlarged cisterna magna, Feeding difficulties, Liver dysfunction, Undescended testis, Recurrent infections, Lactic acidemia, Hyperammonemia" "" "" "" "" "" "" "" "" "" "" "" "0000085716" "03958" "00107965" "02179" "Familial, autosomal recessive" "" "White matter abnormalities, Cerebral atrophy, Cerebellar hypoplasia, Hydrocephalus/ dilated ventricles, Feeding difficulties, Undescended testis, Recurrent infections, Lactic acidemia, Broad nasal bridge, Low set ears, Prominent forehead, Hypertelorism, Depressed nasal bridge, High arched palate, Thin vermilion of upper lip, Wide nasal base, Long eyelashes, Broad forehead" "" "" "" "" "" "" "" "" "" "" "" "0000085717" "03958" "00107966" "02179" "Familial, autosomal recessive" "" "White matter abnormalities, Cerebral atrophy, Peri/paraventricualr cysts, Hydrocephalus/ dilated ventricles, Brain stem atrophy, Lactate peak in MRS, Cardiomyopathy, Congenital heart disease, , Feeding difficulties, Lactic acidemia, Hyperammonemia" "" "" "" "" "" "" "" "" "" "" "" "0000087164" "03958" "00110536" "00006" "Familial, autosomal recessive" "1y7m" "see paper; …" "2m" "" "" "" "" "" "" "" "" "" "" "0000087165" "03958" "00110537" "00006" "Familial, autosomal recessive" "10m" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000087166" "03958" "00110538" "00006" "Familial, autosomal recessive" "1y2m" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000087167" "03958" "00110539" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000087168" "03958" "00110540" "00006" "Familial, autosomal recessive" "1y11m" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000087169" "03958" "00110541" "00006" "Familial, autosomal recessive" "1y10m" "see paper; …" "4m" "" "" "" "" "" "" "" "" "" "" "0000087170" "03958" "00110542" "00006" "Familial, autosomal recessive" "5y" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000087171" "03958" "00110543" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000087172" "03958" "00110544" "00006" "Familial, autosomal recessive" "7m" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000087173" "03958" "00110545" "00006" "Familial, autosomal recessive" "12y" "see paper; …" "2y" "" "" "" "" "" "" "" "" "" "" "0000116452" "03958" "00107962" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000119805" "05374" "00147089" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000119806" "05374" "00147090" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000119807" "05374" "00147091" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000119808" "05374" "00147092" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000119809" "05374" "00147093" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000119810" "05374" "00147094" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000119811" "05374" "00147095" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000119812" "05374" "00147096" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000119813" "05374" "00147097" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000119814" "05374" "00147098" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000119815" "05374" "00147099" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000119816" "05374" "00147100" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000119817" "05374" "00147101" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000119818" "05374" "00147102" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000119819" "05374" "00147103" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000119820" "05374" "00147104" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000119821" "05374" "00147105" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000119822" "05374" "00147106" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000119823" "05374" "00147107" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000119824" "05374" "00147108" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000119825" "05374" "00147109" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000119826" "05374" "00147110" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000119827" "05374" "00147111" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000119828" "05374" "00147112" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000119829" "05374" "00147113" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000119830" "05374" "00147114" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000119831" "05374" "00147115" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000119832" "05374" "00147116" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000129453" "00139" "00164348" "00719" "Isolated (sporadic)" "16y05m" "Diabetes mellitus (HP:0100651); intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "" "" "" "0000209086" "00198" "00274141" "00006" "Familial, autosomal recessive" "" "neonatal onset; mitochondrial disease criteria score 5; muscle biopsy" "0d" "" "" "" "" "" "" "" "" "expected mitochondrial disorder" "" "0000209125" "00198" "00274180" "00006" "Familial, autosomal recessive" "" "neonatal onset; mitochondrial disease criteria score 5" "0d" "" "" "" "" "" "" "" "" "expected mitochondrial disorder" "" "0000209128" "00198" "00274183" "00006" "Familial, autosomal recessive" "" "mitochondrial disease criteria score 4; muscle biopsy" "" "" "" "" "" "" "" "" "" "expected mitochondrial disorder" "" "0000256972" "00139" "00361567" "00006" "Familial, autosomal recessive" "9y" "not syndromic; global developmental delay, mitochondrial encephalomyopathy" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000343331" "05534" "00454703" "00095" "Familial, autosomal recessive" "" "pshycomotor delay, respiratory distress, epilepsy, leukoencephalopathy" "<0y" "" "" "" "" "" "" "" "" "mtDNA depletion" "" ## Screenings ## Do not remove or alter this header ## ## Count = 69 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000080978" "00080866" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000081026" "00080914" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000081069" "00080957" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000081101" "00080989" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000104362" "00103904" "1" "00006" "00006" "2017-04-22 16:52:53" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000108409" "00107940" "1" "02179" "02179" "2017-07-20 15:02:31" "" "" "SEQ" "DNA" "" "" "0000108410" "00107941" "1" "02179" "02179" "2017-07-20 15:16:30" "" "" "SEQ" "DNA" "" "" "0000108411" "00107943" "1" "02179" "02179" "2017-07-20 15:34:41" "" "" "?" "DNA" "" "" "0000108419" "00107944" "1" "02179" "02179" "2017-07-20 15:50:26" "" "" "SEQ" "DNA" "" "" "0000108420" "00107952" "1" "02179" "02179" "2017-07-20 15:55:47" "" "" "SEQ" "DNA" "" "" "0000108421" "00107953" "1" "02179" "02179" "2017-07-20 15:59:48" "" "" "SEQ" "DNA" "" "" "0000108422" "00107954" "1" "02179" "02179" "2017-07-20 16:03:50" "" "" "SEQ" "DNA" "" "" "0000108423" "00107955" "1" "02179" "02179" "2017-07-20 16:07:35" "" "" "SEQ" "DNA" "" "" "0000108424" "00107956" "1" "02179" "02179" "2017-07-20 16:11:06" "" "" "SEQ" "DNA" "" "" "0000108425" "00107957" "1" "02179" "02179" "2017-07-20 16:14:02" "" "" "SEQ" "DNA" "" "" "0000108426" "00107958" "1" "02179" "02179" "2017-07-20 16:25:53" "" "" "SEQ" "DNA" "" "" "0000108427" "00107959" "1" "02179" "02179" "2017-07-20 16:31:01" "" "" "SEQ" "DNA" "" "" "0000108428" "00107960" "1" "02179" "02179" "2017-07-20 16:33:50" "" "" "SEQ" "DNA" "" "" "0000108429" "00107961" "1" "02179" "02179" "2017-07-20 18:15:47" "" "" "SEQ" "DNA" "" "" "0000108430" "00107963" "1" "02179" "02179" "2017-07-20 18:31:30" "" "" "SEQ" "DNA" "" "" "0000108431" "00107964" "1" "02179" "02179" "2017-07-20 18:35:14" "" "" "SEQ" "DNA" "" "" "0000108432" "00107965" "1" "02179" "02179" "2017-07-20 18:37:56" "" "" "SEQ" "DNA" "" "" "0000108433" "00107966" "1" "02179" "02179" "2017-07-20 18:41:54" "" "" "SEQ" "DNA" "" "" "0000108434" "00107967" "1" "02179" "02179" "2017-07-20 18:47:54" "" "" "SEQ" "DNA" "" "" "0000111002" "00110536" "1" "00006" "00006" "2017-07-30 23:12:47" "" "" "SEQ" "DNA" "" "" "0000111003" "00110537" "1" "00006" "00006" "2017-07-30 23:12:47" "" "" "SEQ" "DNA" "" "" "0000111004" "00110538" "1" "00006" "00006" "2017-07-30 23:12:47" "" "" "SEQ" "DNA" "" "" "0000111005" "00110539" "1" "00006" "00006" "2017-07-30 23:12:47" "" "" "SEQ" "DNA" "" "" "0000111006" "00110540" "1" "00006" "00006" "2017-07-30 23:12:47" "" "" "SEQ" "DNA" "" "" "0000111007" "00110541" "1" "00006" "00006" "2017-07-30 23:12:47" "" "" "SEQ" "DNA" "" "" "0000111008" "00110542" "1" "00006" "00006" "2017-07-30 23:12:47" "" "" "SEQ" "DNA" "" "" "0000111009" "00110543" "1" "00006" "00006" "2017-07-30 23:12:47" "" "" "SEQ" "DNA" "" "" "0000111010" "00110544" "1" "00006" "00006" "2017-07-30 23:12:47" "" "" "SEQ" "DNA" "" "" "0000111011" "00110545" "1" "00006" "00006" "2017-07-30 23:12:47" "" "" "SEQ" "DNA" "" "" "0000144548" "00107962" "1" "00006" "00006" "2017-12-04 15:06:02" "" "" "SEQ" "DNA" "" "" "0000147944" "00147089" "1" "00006" "00006" "2018-01-01 15:58:51" "" "" "SEQ" "DNA" "" "" "0000147945" "00147090" "1" "00006" "00006" "2018-01-01 15:58:51" "" "" "SEQ" "DNA" "" "" "0000147946" "00147091" "1" "00006" "00006" "2018-01-01 15:58:51" "" "" "SEQ" "DNA" "" "" "0000147947" "00147092" "1" "00006" "00006" "2018-01-01 15:58:51" "" "" "SEQ" "DNA" "" "" "0000147948" "00147093" "1" "00006" "00006" "2018-01-01 15:58:51" "" "" "SEQ" "DNA" "" "" "0000147949" "00147094" "1" "00006" "00006" "2018-01-01 15:58:51" "" "" "SEQ" "DNA" "" "" "0000147950" "00147095" "1" "00006" "00006" "2018-01-01 15:58:51" "" "" "SEQ" "DNA" "" "" "0000147951" "00147096" "1" "00006" "00006" "2018-01-01 15:58:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000147952" "00147097" "1" "00006" "00006" "2018-01-01 15:58:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000147953" "00147098" "1" "00006" "00006" "2018-01-01 15:58:51" "" "" "SEQ" "DNA" "" "" "0000147954" "00147099" "1" "00006" "00006" "2018-01-01 15:58:51" "" "" "SEQ" "DNA" "" "" "0000147955" "00147100" "1" "00006" "00006" "2018-01-01 15:58:51" "" "" "SEQ" "DNA" "" "" "0000147956" "00147101" "1" "00006" "00006" "2018-01-01 15:58:51" "" "" "SEQ" "DNA" "" "" "0000147957" "00147102" "1" "00006" "00006" "2018-01-01 15:58:51" "" "" "SEQ" "DNA" "" "" "0000147958" "00147103" "1" "00006" "00006" "2018-01-01 15:58:51" "" "" "SEQ" "DNA" "" "" "0000147959" "00147104" "1" "00006" "00006" "2018-01-01 15:58:51" "" "" "SEQ" "DNA" "" "" "0000147960" "00147105" "1" "00006" "00006" "2018-01-01 15:58:51" "" "" "SEQ" "DNA" "" "" "0000147961" "00147106" "1" "00006" "00006" "2018-01-01 15:58:51" "" "" "SEQ" "DNA" "" "" "0000147962" "00147107" "1" "00006" "00006" "2018-01-01 15:58:51" "" "" "SEQ" "DNA" "" "" "0000147963" "00147108" "1" "00006" "00006" "2018-01-01 15:58:51" "" "" "SEQ" "DNA" "" "" "0000147964" "00147109" "1" "00006" "00006" "2018-01-01 15:58:51" "" "" "SEQ" "DNA" "" "" "0000147965" "00147110" "1" "00006" "00006" "2018-01-01 15:58:51" "" "" "SEQ" "DNA" "" "" "0000147966" "00147111" "1" "00006" "00006" "2018-01-01 15:58:51" "" "" "SEQ" "DNA" "" "" "0000147967" "00147112" "1" "00006" "00006" "2018-01-01 15:58:51" "" "" "SEQ" "DNA" "" "" "0000147968" "00147113" "1" "00006" "00006" "2018-01-01 15:58:51" "" "" "SEQ" "DNA" "" "" "0000147969" "00147114" "1" "00006" "00006" "2018-01-01 15:58:51" "" "" "SEQ" "DNA" "" "" "0000147970" "00147115" "1" "00006" "00006" "2018-01-01 15:58:51" "" "" "SEQ" "DNA" "" "" "0000147971" "00147116" "1" "00006" "00006" "2018-01-01 15:58:51" "" "" "SEQ" "DNA" "" "" "0000165215" "00164348" "1" "00719" "00719" "2018-05-14 20:20:51" "" "" "SEQ-NG" "DNA" "" "" "0000275296" "00274141" "1" "00006" "00006" "2019-12-24 17:05:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000275335" "00274180" "1" "00006" "00006" "2019-12-24 17:05:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000275338" "00274183" "1" "00006" "00006" "2019-12-24 17:05:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000362795" "00361567" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000456316" "00454703" "1" "00095" "00006" "2024-09-25 11:50:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 67 "{{screeningid}}" "{{geneid}}" "0000080978" "FBXL4" "0000081026" "FBXL4" "0000081069" "FBXL4" "0000081101" "FBXL4" "0000104362" "FBXL4" "0000108409" "FBXL4" "0000108410" "FBXL4" "0000108411" "FBXL4" "0000108419" "FBXL4" "0000108420" "FBXL4" "0000108421" "FBXL4" "0000108422" "FBXL4" "0000108423" "FBXL4" "0000108424" "FBXL4" "0000108425" "FBXL4" "0000108426" "FBXL4" "0000108427" "FBXL4" "0000108428" "FBXL4" "0000108429" "FBXL4" "0000108430" "FBXL4" "0000108431" "FBXL4" "0000108432" "FBXL4" "0000108433" "FBXL4" "0000108434" "FBXL4" "0000111002" "FBXL4" "0000111003" "FBXL4" "0000111004" "FBXL4" "0000111005" "FBXL4" "0000111006" "FBXL4" "0000111007" "FBXL4" "0000111008" "FBXL4" "0000111009" "FBXL4" "0000111010" "FBXL4" "0000111011" "FBXL4" "0000144548" "FBXL4" "0000147944" "FBXL4" "0000147945" "FBXL4" "0000147946" "FBXL4" "0000147947" "FBXL4" "0000147948" "FBXL4" "0000147949" "FBXL4" "0000147950" "FBXL4" "0000147951" "FBXL4" "0000147952" "FBXL4" "0000147953" "FBXL4" "0000147954" "FBXL4" "0000147955" "FBXL4" "0000147956" "FBXL4" "0000147957" "FBXL4" "0000147958" "FBXL4" "0000147959" "FBXL4" "0000147960" "FBXL4" "0000147961" "FBXL4" "0000147962" "FBXL4" "0000147963" "FBXL4" "0000147964" "FBXL4" "0000147965" "FBXL4" "0000147966" "FBXL4" "0000147967" "FBXL4" "0000147968" "FBXL4" "0000147969" "FBXL4" "0000147970" "FBXL4" "0000147971" "FBXL4" "0000275296" "FBXL4" "0000275335" "FBXL4" "0000275338" "FBXL4" "0000362795" "FBXL4" ## 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 = 431 "{{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}}" "0000130064" "3" "70" "6" "99323345" "99323346" "del" "0" "01758" "FBXL4_000003" "g.99323345_99323346del" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.98875469_98875470del" "" "likely pathogenic" "ACMG" "0000130112" "3" "70" "6" "99365492" "99365492" "subst" "0" "01758" "FBXL4_000002" "g.99365492G>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.98917616G>A" "" "likely pathogenic" "ACMG" "0000130155" "3" "70" "6" "99374573" "99374573" "subst" "0" "01758" "FBXL4_000001" "g.99374573G>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.98926697G>A" "" "likely pathogenic" "ACMG" "0000130187" "3" "70" "6" "99374573" "99374573" "subst" "0" "01758" "FBXL4_000001" "g.99374573G>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.98926697G>A" "" "likely pathogenic" "ACMG" "0000169042" "3" "90" "6" "99374446" "99374446" "subst" "1.21858E-5" "00006" "FBXL4_000004" "g.99374446A>G" "" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "Germline" "" "" "0" "" "" "g.98926570A>G" "" "pathogenic" "" "0000174357" "3" "90" "6" "99365492" "99365492" "subst" "0" "02179" "FBXL4_000002" "g.99365492G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "yes" "" "0" "" "" "g.98917616G>A" "" "pathogenic" "ACMG" "0000174360" "3" "70" "6" "99322270" "99322270" "subst" "0" "02179" "FBXL4_000016" "g.99322270A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98874394A>G" "" "likely pathogenic" "ACMG" "0000174363" "3" "70" "6" "99322317" "99322317" "subst" "0" "02179" "FBXL4_000017" "g.99322317C>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98874441C>G" "" "likely pathogenic" "ACMG" "0000174373" "3" "90" "6" "99323438" "99323438" "subst" "0" "02179" "FBXL4_000012" "g.99323438G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875562G>A" "" "pathogenic" "ACMG" "0000174374" "3" "90" "6" "99374646" "99374646" "subst" "0" "02179" "FBXL4_000005" "g.99374646A>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926770A>T" "" "pathogenic" "ACMG" "0000174375" "3" "90" "6" "99374573" "99374573" "subst" "0" "02179" "FBXL4_000001" "g.99374573G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926697G>A" "" "pathogenic" "ACMG" "0000174376" "3" "90" "6" "99323295" "99323295" "subst" "0" "02179" "FBXL4_000015" "g.99323295T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875419T>C" "" "pathogenic" "ACMG" "0000174377" "3" "70" "6" "99347144" "99347144" "subst" "0" "02179" "FBXL4_000014" "g.99347144C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98899268C>T" "" "pathogenic" "ACMG" "0000174378" "3" "90" "6" "99323438" "99323438" "subst" "0" "02179" "FBXL4_000012" "g.99323438G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875562G>A" "" "pathogenic" "ACMG" "0000174379" "3" "90" "6" "99323295" "99323295" "subst" "0" "02179" "FBXL4_000015" "g.99323295T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875419T>C" "" "pathogenic" "ACMG" "0000174380" "2" "90" "6" "99374549" "99374549" "subst" "0" "02179" "FBXL4_000009" "g.99374549G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926673G>A" "" "pathogenic" "ACMG" "0000174381" "1" "70" "6" "99322317" "99322317" "subst" "0" "02179" "FBXL4_000017" "g.99322317C>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98874441C>G" "" "likely pathogenic" "ACMG" "0000174382" "3" "90" "6" "99323345" "99323346" "del" "0" "02179" "FBXL4_000003" "g.99323345_99323346del" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "1648_1649delGA" "" "Germline" "" "" "0" "" "" "g.98875469_98875470del" "" "pathogenic" "ACMG" "0000174383" "1" "90" "6" "99323357" "99323358" "del" "0" "02179" "FBXL4_000010" "g.99323357_99323358del" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "1641_1642delTG" "" "Germline" "" "" "0" "" "" "g.98875481_98875482del" "" "pathogenic" "ACMG" "0000174384" "2" "70" "6" "99374446" "99374446" "subst" "1.21858E-5" "02179" "FBXL4_000004" "g.99374446A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926570A>G" "" "likely pathogenic" "ACMG" "0000174385" "3" "90" "6" "99347251" "99347251" "subst" "4.06934E-6" "02179" "FBXL4_000006" "g.99347251G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98899375G>A" "" "pathogenic" "ACMG" "0000174386" "2" "90" "6" "99365488" "99365491" "dup" "0" "02179" "FBXL4_000007" "g.99365488_99365491dup" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "618_621dupACTG" "" "Germline" "" "" "0" "" "" "g.98917612_98917615dup" "" "pathogenic" "ACMG" "0000174387" "1" "90" "6" "99323357" "99323358" "del" "0" "02179" "FBXL4_000010" "g.99323357_99323358del" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "1641_1642delTG" "" "Germline" "" "" "0" "" "" "g.98875481_98875482del" "" "pathogenic" "ACMG" "0000174388" "3" "70" "6" "99323453" "99323453" "subst" "4.06868E-6" "02179" "FBXL4_000013" "g.99323453A>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875577A>C" "" "likely pathogenic" "ACMG" "0000174389" "2" "90" "6" "99374539" "99374539" "del" "4.06279E-6" "02179" "FBXL4_000008" "g.99374539del" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "326delG" "" "Germline" "" "" "0" "" "" "g.98926663del" "" "pathogenic" "ACMG" "0000174390" "1" "70" "6" "99323371" "99323371" "subst" "0" "02179" "FBXL4_000011" "g.99323371G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875495G>A" "" "likely pathogenic" "ACMG" "0000174391" "3" "90" "6" "99323299" "99323299" "subst" "0" "02179" "FBXL4_000018" "g.99323299T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875423T>C" "" "pathogenic" "ACMG" "0000177985" "3" "90" "6" "99374646" "99374646" "subst" "0" "00006" "FBXL4_000005" "g.99374646A>T" "" "{PMID:Dai 2017:27743463}, {DOI:Dai 2017:10.1111/cge.12894}" "" "" "" "Germline" "" "" "0" "" "" "g.98926770A>T" "" "pathogenic" "" "0000177986" "3" "90" "6" "99323357" "99323358" "del" "0" "00006" "FBXL4_000010" "g.99323357_99323358del" "" "{PMID:Dai 2017:27743463}, {DOI:Dai 2017:10.1111/cge.12894}" "" "1641_1642del" "" "Germline" "" "" "0" "" "" "g.98875481_98875482del" "" "pathogenic" "" "0000177987" "3" "90" "6" "99323357" "99323358" "del" "0" "00006" "FBXL4_000010" "g.99323357_99323358del" "" "{PMID:Dai 2017:27743463}, {DOI:Dai 2017:10.1111/cge.12894}" "" "1641_1642del" "" "Germline" "" "" "0" "" "" "g.98875481_98875482del" "" "pathogenic" "" "0000177988" "1" "90" "6" "99323306" "99323306" "subst" "0" "00006" "FBXL4_000024" "g.99323306G>A" "" "{PMID:Dai 2017:27743463}, {DOI:Dai 2017:10.1111/cge.12894}" "" "" "" "Germline" "" "" "0" "" "" "g.98875430G>A" "" "pathogenic" "" "0000177989" "1" "90" "6" "99328425" "99328428" "del" "0" "00006" "FBXL4_000019" "g.99328425_99328428del" "" "{PMID:Dai 2017:27743463}, {DOI:Dai 2017:10.1111/cge.12894}" "" "1389+3_+6delAAGT" "" "Germline" "" "" "0" "" "" "g.98880549_98880552del" "" "pathogenic" "" "0000177990" "1" "90" "6" "99374801" "99374801" "subst" "6.10103E-5" "00006" "FBXL4_000022" "g.99374801G>A" "" "{PMID:Dai 2017:27743463}, {DOI:Dai 2017:10.1111/cge.12894}" "" "" "" "Germline" "" "" "0" "" "" "g.98926925G>A" "" "pathogenic" "" "0000177991" "3" "90" "6" "99322317" "99322317" "subst" "0" "00006" "FBXL4_000017" "g.99322317C>G" "" "{PMID:Dai 2017:27743463}, {DOI:Dai 2017:10.1111/cge.12894}" "" "" "" "Germline" "" "" "0" "" "" "g.98874441C>G" "" "pathogenic" "" "0000177992" "3" "90" "6" "99374588" "99374592" "del" "4.06174E-6" "00006" "FBXL4_000021" "g.99374588_99374592del" "" "{PMID:Dai 2017:27743463}, {DOI:Dai 2017:10.1111/cge.12894}" "" "" "" "Germline" "" "" "0" "" "" "g.98926712_98926716del" "" "pathogenic" "" "0000177993" "11" "90" "6" "99323357" "99323358" "del" "0" "00006" "FBXL4_000010" "g.99323357_99323358del" "" "{PMID:Dai 2017:27743463}, {DOI:Dai 2017:10.1111/cge.12894}" "" "1641_1642delTG" "" "Germline" "" "" "0" "" "" "g.98875481_98875482del" "" "pathogenic" "" "0000177994" "1" "90" "6" "99374801" "99374801" "subst" "6.10103E-5" "00006" "FBXL4_000022" "g.99374801G>A" "" "{PMID:Dai 2017:27743463}, {DOI:Dai 2017:10.1111/cge.12894}" "" "" "" "Germline" "" "" "0" "" "" "g.98926925G>A" "" "pathogenic" "" "0000177995" "2" "90" "6" "99323371" "99323371" "subst" "0" "00006" "FBXL4_000011" "g.99323371G>A" "" "{PMID:Dai 2017:27743463}, {DOI:Dai 2017:10.1111/cge.12894}" "" "" "" "Germline" "" "" "0" "" "" "g.98875495G>A" "" "pathogenic" "" "0000177996" "2" "90" "6" "99322182" "99322182" "subst" "0" "00006" "FBXL4_000023" "g.99322182A>T" "" "{PMID:Dai 2017:27743463}, {DOI:Dai 2017:10.1111/cge.12894}" "" "" "" "Germline" "" "" "0" "" "" "g.98874306A>T" "" "pathogenic" "" "0000177997" "2" "90" "6" "99323549" "99323549" "subst" "2.45505E-5" "00006" "FBXL4_000025" "g.99323549G>A" "" "{PMID:Dai 2017:27743463}, {DOI:Dai 2017:10.1111/cge.12894}" "" "" "" "Germline" "" "" "0" "" "" "g.98875673G>A" "" "pathogenic" "" "0000177998" "21" "90" "6" "99347229" "99347229" "subst" "8.13478E-6" "00006" "FBXL4_000020" "g.99347229C>T" "" "{PMID:Dai 2017:27743463}, {DOI:Dai 2017:10.1111/cge.12894}" "" "" "" "Germline" "" "" "0" "" "" "g.98899353C>T" "" "pathogenic" "" "0000177999" "2" "90" "6" "99323357" "99323358" "del" "0" "00006" "FBXL4_000010" "g.99323357_99323358del" "" "{PMID:Dai 2017:27743463}, {DOI:Dai 2017:10.1111/cge.12894}" "" "1641_1642del" "" "Germline" "" "" "0" "" "" "g.98875481_98875482del" "" "pathogenic" "" "0000235018" "3" "70" "6" "99374446" "99374446" "subst" "1.21858E-5" "00006" "FBXL4_000004" "g.99374446A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926570A>G" "" "likely pathogenic" "ACMG" "0000235019" "0" "90" "6" "99365249" "99375699" "del" "0" "00006" "FBXL4_000026" "g.(99353547_99365249)_(99375699_99395681)del" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000235081" "0" "50" "6" "99374879" "99374879" "subst" "4.11946E-6" "00006" "FBXL4_000352" "g.99374879T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "c.1-15A>G" "" "Germline" "" "" "0" "" "" "g.98927003T>C" "" "VUS" "ACMG" "0000235082" "0" "50" "6" "99374880" "99374880" "subst" "1.64912E-5" "00006" "FBXL4_000353" "g.99374880G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "c.1-16C>T" "" "Germline" "" "" "0" "" "" "g.98927004G>A" "" "VUS" "ACMG" "0000235083" "0" "30" "6" "99353396" "99353396" "subst" "8.12764E-6" "00006" "FBXL4_000184" "g.99353396G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905520G>A" "" "likely benign" "ACMG" "0000235084" "0" "50" "6" "99353394" "99353394" "subst" "1.62559E-5" "00006" "FBXL4_000183" "g.99353394C>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905518C>A" "" "VUS" "ACMG" "0000235085" "0" "30" "6" "99353385" "99353385" "subst" "4.87571E-5" "00006" "FBXL4_000182" "g.99353385T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905509T>C" "" "likely benign" "ACMG" "0000235086" "0" "50" "6" "99353380" "99353380" "subst" "9.7515E-5" "00006" "FBXL4_000181" "g.99353380G>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905504G>C" "" "VUS" "ACMG" "0000235087" "0" "50" "6" "99353378" "99353378" "subst" "3.65711E-5" "00006" "FBXL4_000180" "g.99353378G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905502G>A" "" "VUS" "ACMG" "0000235088" "0" "50" "6" "99374762" "99374762" "subst" "4.06312E-6" "00006" "FBXL4_000325" "g.99374762G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926886G>A" "" "VUS" "ACMG" "0000235089" "0" "50" "6" "99374761" "99374761" "subst" "8.93822E-5" "00006" "FBXL4_000324" "g.99374761T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926885T>C" "" "VUS" "ACMG" "0000235090" "0" "30" "6" "99353349" "99353349" "subst" "8.12539E-6" "00006" "FBXL4_000178" "g.99353349T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905473T>C" "" "likely benign" "ACMG" "0000235091" "0" "50" "6" "99353349" "99353349" "subst" "8.12539E-6" "00006" "FBXL4_000179" "g.99353349T>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905473T>A" "" "VUS" "ACMG" "0000235092" "0" "10" "6" "99374760" "99374760" "subst" "0.0218939" "00006" "FBXL4_000322" "g.99374760A>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926884A>T" "" "benign" "ACMG" "0000235093" "0" "50" "6" "99374760" "99374760" "subst" "8.12539E-6" "00006" "FBXL4_000323" "g.99374760A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926884A>G" "" "VUS" "ACMG" "0000235094" "0" "50" "6" "99353338" "99353338" "subst" "4.06273E-6" "00006" "FBXL4_000177" "g.99353338C>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905462C>G" "" "VUS" "ACMG" "0000235095" "0" "50" "6" "99353336" "99353336" "subst" "1.62504E-5" "00006" "FBXL4_000176" "g.99353336T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905460T>C" "" "VUS" "ACMG" "0000235096" "0" "50" "6" "99353335" "99353335" "subst" "0" "00006" "FBXL4_000175" "g.99353335T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905459T>C" "" "VUS" "ACMG" "0000235097" "0" "50" "6" "99353334" "99353334" "subst" "4.06279E-6" "00006" "FBXL4_000174" "g.99353334A>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905458A>C" "" "VUS" "ACMG" "0000235098" "0" "50" "6" "99353332" "99353332" "subst" "0.000154384" "00006" "FBXL4_000173" "g.99353332C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905456C>T" "" "VUS" "ACMG" "0000235099" "0" "30" "6" "99353322" "99353322" "subst" "5.6881E-5" "00006" "FBXL4_000172" "g.99353322G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905446G>A" "" "likely benign" "ACMG" "0000235100" "0" "50" "6" "99353318" "99353318" "subst" "8.12599E-6" "00006" "FBXL4_000171" "g.99353318C>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905442C>A" "" "VUS" "ACMG" "0000235101" "0" "50" "6" "99374756" "99374756" "subst" "8.12532E-6" "00006" "FBXL4_000321" "g.99374756C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926880C>T" "" "VUS" "ACMG" "0000235102" "0" "50" "6" "99353290" "99353290" "subst" "1.21981E-5" "00006" "FBXL4_000168" "g.99353290C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905414C>T" "" "VUS" "ACMG" "0000235103" "0" "50" "6" "99353289" "99353289" "subst" "1.21977E-5" "00006" "FBXL4_000166" "g.99353289G>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905413G>C" "" "VUS" "ACMG" "0000235104" "0" "50" "6" "99353289" "99353289" "subst" "3.65931E-5" "00006" "FBXL4_000167" "g.99353289G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905413G>A" "" "VUS" "ACMG" "0000235105" "0" "50" "6" "99353295" "99353295" "subst" "4.06408E-6" "00006" "FBXL4_000169" "g.99353295T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905419T>C" "" "VUS" "ACMG" "0000235106" "0" "50" "6" "99353302" "99353302" "subst" "1.62546E-5" "00006" "FBXL4_000170" "g.99353302C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905426C>T" "" "VUS" "ACMG" "0000235107" "0" "50" "6" "99347370" "99347370" "subst" "8.29579E-6" "00006" "FBXL4_000164" "g.99347370C>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98899494C>A" "" "VUS" "ACMG" "0000235108" "0" "50" "6" "99347376" "99347376" "subst" "3.38596E-5" "00006" "FBXL4_000165" "g.99347376A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98899500A>G" "" "VUS" "ACMG" "0000235109" "0" "50" "6" "99347361" "99347361" "subst" "2.07287E-5" "00006" "FBXL4_000162" "g.99347361C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98899485C>T" "" "VUS" "ACMG" "0000235110" "0" "50" "6" "99347361" "99347361" "subst" "1.65829E-5" "00006" "FBXL4_000163" "g.99347361C>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98899485C>A" "" "VUS" "ACMG" "0000235111" "0" "50" "6" "99347348" "99347348" "subst" "2.05066E-5" "00006" "FBXL4_000161" "g.99347348C>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98899472C>G" "" "VUS" "ACMG" "0000235112" "0" "50" "6" "99347346" "99347346" "subst" "4.1029E-6" "00006" "FBXL4_000160" "g.99347346A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98899470A>G" "" "VUS" "ACMG" "0000235113" "0" "10" "6" "99347336" "99347336" "subst" "3.67758E-5" "00006" "FBXL4_000159" "g.99347336G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98899460G>A" "" "benign" "ACMG" "0000235114" "0" "50" "6" "99347335" "99347335" "subst" "4.07897E-5" "00006" "FBXL4_000158" "g.99347335C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98899459C>T" "" "VUS" "ACMG" "0000235115" "0" "50" "6" "99374753" "99374753" "subst" "8.12493E-6" "00006" "FBXL4_000320" "g.99374753T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926877T>C" "" "VUS" "ACMG" "0000235116" "0" "50" "6" "99347326" "99347326" "subst" "2.44672E-5" "00006" "FBXL4_000157" "g.99347326G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98899450G>A" "" "VUS" "ACMG" "0000235117" "0" "50" "6" "99347325" "99347325" "subst" "1.2231E-5" "00006" "FBXL4_000156" "g.99347325C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98899449C>T" "" "VUS" "ACMG" "0000235118" "0" "50" "6" "99347322" "99347322" "subst" "0" "00006" "FBXL4_000155" "g.99347322A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98899446A>G" "" "VUS" "ACMG" "0000235119" "0" "30" "6" "99347312" "99347312" "subst" "8.14777E-6" "00006" "FBXL4_000154" "g.99347312A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98899436A>G" "" "likely benign" "ACMG" "0000235120" "0" "50" "6" "99347308" "99347308" "subst" "4.07385E-6" "00006" "FBXL4_000153" "g.99347308T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98899432T>C" "" "VUS" "ACMG" "0000235121" "0" "50" "6" "99347305" "99347305" "subst" "4.07388E-6" "00006" "FBXL4_000152" "g.99347305G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98899429G>A" "" "VUS" "ACMG" "0000235122" "0" "50" "6" "99347295" "99347295" "subst" "4.07292E-6" "00006" "FBXL4_000151" "g.99347295T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98899419T>C" "" "VUS" "ACMG" "0000235123" "0" "50" "6" "99347289" "99347289" "subst" "2.03656E-5" "00006" "FBXL4_000149" "g.99347289G>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98899413G>C" "" "VUS" "ACMG" "0000235124" "0" "50" "6" "99347289" "99347289" "subst" "1.22194E-5" "00006" "FBXL4_000150" "g.99347289G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98899413G>A" "" "VUS" "ACMG" "0000235125" "0" "50" "6" "99347271" "99347271" "subst" "4.07173E-6" "00006" "FBXL4_000148" "g.99347271G>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98899395G>T" "" "VUS" "ACMG" "0000235126" "0" "30" "6" "99347267" "99347267" "subst" "8.14273E-6" "00006" "FBXL4_000147" "g.99347267C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98899391C>T" "" "likely benign" "ACMG" "0000235127" "0" "50" "6" "99347266" "99347266" "subst" "4.07053E-6" "00006" "FBXL4_000146" "g.99347266T>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98899390T>A" "" "VUS" "ACMG" "0000235128" "0" "30" "6" "99347252" "99347252" "subst" "3.6622E-5" "00006" "FBXL4_000145" "g.99347252T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98899376T>C" "" "likely benign" "ACMG" "0000235129" "0" "50" "6" "99347248" "99347248" "subst" "4.06904E-6" "00006" "FBXL4_000144" "g.99347248C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98899372C>T" "" "VUS" "ACMG" "0000235130" "0" "50" "6" "99347247" "99347247" "subst" "5.69666E-5" "00006" "FBXL4_000143" "g.99347247G>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98899371G>T" "" "VUS" "ACMG" "0000235131" "0" "30" "6" "99347237" "99347237" "subst" "4.06828E-6" "00006" "FBXL4_000142" "g.99347237G>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98899361G>C" "" "likely benign" "ACMG" "0000235132" "0" "50" "6" "99347235" "99347235" "subst" "4.06772E-6" "00006" "FBXL4_000141" "g.99347235G>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98899359G>T" "" "VUS" "ACMG" "0000235133" "0" "50" "6" "99347217" "99347217" "subst" "2.03336E-5" "00006" "FBXL4_000140" "g.99347217G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98899341G>A" "" "VUS" "ACMG" "0000235134" "0" "50" "6" "99347214" "99347214" "subst" "4.06699E-6" "00006" "FBXL4_000139" "g.99347214G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98899338G>A" "" "VUS" "ACMG" "0000235135" "0" "50" "6" "99347210" "99347210" "subst" "0.000614091" "00006" "FBXL4_000138" "g.99347210T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98899334T>C" "" "VUS" "ACMG" "0000235136" "0" "50" "6" "99347209" "99347209" "subst" "8.13365E-6" "00006" "FBXL4_000137" "g.99347209C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98899333C>T" "" "VUS" "ACMG" "0000235137" "0" "30" "6" "99347207" "99347207" "subst" "4.06653E-6" "00006" "FBXL4_000136" "g.99347207A>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98899331A>T" "" "likely benign" "ACMG" "0000235138" "0" "50" "6" "99374740" "99374740" "subst" "1.2187E-5" "00006" "FBXL4_000319" "g.99374740C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926864C>T" "" "VUS" "ACMG" "0000235139" "0" "30" "6" "99347201" "99347201" "subst" "1.62665E-5" "00006" "FBXL4_000135" "g.99347201G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98899325G>A" "" "likely benign" "ACMG" "0000235140" "0" "50" "6" "99347176" "99347176" "subst" "0" "00006" "FBXL4_000134" "g.99347176T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98899300T>C" "" "VUS" "ACMG" "0000235141" "0" "50" "6" "99347172" "99347172" "subst" "1.62746E-5" "00006" "FBXL4_000133" "g.99347172C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98899296C>T" "" "VUS" "ACMG" "0000235142" "0" "50" "6" "99347167" "99347167" "subst" "2.03424E-5" "00006" "FBXL4_000132" "g.99347167C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98899291C>T" "" "VUS" "ACMG" "0000235143" "0" "50" "6" "99374736" "99374736" "subst" "8.12427E-6" "00006" "FBXL4_000318" "g.99374736C>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926860C>G" "" "VUS" "ACMG" "0000235144" "0" "50" "6" "99374735" "99374735" "subst" "8.12414E-6" "00006" "FBXL4_000317" "g.99374735T>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926859T>A" "" "VUS" "ACMG" "0000235145" "0" "50" "6" "99347150" "99347150" "subst" "8.14147E-6" "00006" "FBXL4_000131" "g.99347150T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98899274T>C" "" "VUS" "ACMG" "0000235146" "0" "50" "6" "99347131" "99347131" "subst" "8.16513E-6" "00006" "FBXL4_000130" "g.99347131G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98899255G>A" "" "VUS" "ACMG" "0000235147" "0" "10" "6" "99347130" "99347130" "subst" "0.000985733" "00006" "FBXL4_000129" "g.99347130T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98899254T>C" "" "benign" "ACMG" "0000235148" "0" "50" "6" "99347127" "99347127" "subst" "4.09018E-6" "00006" "FBXL4_000128" "g.99347127T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98899251T>C" "" "VUS" "ACMG" "0000235149" "0" "30" "6" "99347125" "99347125" "subst" "5.73E-5" "00006" "FBXL4_000127" "g.99347125A>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98899249A>C" "" "likely benign" "ACMG" "0000235150" "0" "50" "6" "99328510" "99328510" "subst" "0" "00006" "FBXL4_000123" "g.99328510G>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98880634G>T" "" "VUS" "ACMG" "0000235151" "0" "50" "6" "99328510" "99328510" "subst" "4.07478E-6" "00006" "FBXL4_000124" "g.99328510G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98880634G>A" "" "VUS" "ACMG" "0000235152" "0" "50" "6" "99328515" "99328515" "subst" "1.22312E-5" "00006" "FBXL4_000125" "g.99328515C>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98880639C>G" "" "VUS" "ACMG" "0000235153" "0" "50" "6" "99328516" "99328516" "subst" "4.07741E-6" "00006" "FBXL4_000126" "g.99328516A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98880640A>G" "" "VUS" "ACMG" "0000235154" "0" "50" "6" "99328500" "99328500" "subst" "0" "00006" "FBXL4_000122" "g.99328500G>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98880624G>C" "" "VUS" "ACMG" "0000235155" "0" "50" "6" "99374734" "99374734" "subst" "0.000142183" "00006" "FBXL4_000316" "g.99374734G>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926858G>T" "" "VUS" "ACMG" "0000235156" "0" "50" "6" "99328482" "99328482" "subst" "8.13968E-6" "00006" "FBXL4_000121" "g.99328482T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98880606T>C" "" "VUS" "ACMG" "0000235157" "0" "30" "6" "99328479" "99328479" "subst" "4.06901E-6" "00006" "FBXL4_000120" "g.99328479A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98880603A>G" "" "likely benign" "ACMG" "0000235158" "0" "50" "6" "99328474" "99328474" "subst" "4.06924E-6" "00006" "FBXL4_000119" "g.99328474G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98880598G>A" "" "VUS" "ACMG" "0000235159" "0" "50" "6" "99328469" "99328469" "subst" "4.06835E-6" "00006" "FBXL4_000118" "g.99328469C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98880593C>T" "" "VUS" "ACMG" "0000235160" "0" "30" "6" "99328465" "99328465" "subst" "0" "00006" "FBXL4_000117" "g.99328465T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98880589T>C" "" "likely benign" "ACMG" "0000235161" "0" "30" "6" "99328462" "99328462" "subst" "4.06795E-6" "00006" "FBXL4_000116" "g.99328462C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98880586C>T" "" "likely benign" "ACMG" "0000235162" "0" "30" "6" "99374730" "99374730" "subst" "4.0624E-6" "00006" "FBXL4_000315" "g.99374730G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926854G>A" "" "likely benign" "ACMG" "0000235163" "0" "50" "6" "99328448" "99328448" "subst" "4.06749E-6" "00006" "FBXL4_000115" "g.99328448C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98880572C>T" "" "VUS" "ACMG" "0000235164" "0" "50" "6" "99328439" "99328439" "subst" "1.22031E-5" "00006" "FBXL4_000114" "g.99328439C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98880563C>T" "" "VUS" "ACMG" "0000235165" "0" "50" "6" "99374728" "99374728" "subst" "1.62497E-5" "00006" "FBXL4_000313" "g.99374728G>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926852G>C" "" "VUS" "ACMG" "0000235166" "0" "50" "6" "99374728" "99374728" "subst" "1.21873E-5" "00006" "FBXL4_000314" "g.99374728G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926852G>A" "" "VUS" "ACMG" "0000235167" "0" "50" "6" "99328430" "99328430" "subst" "0.0003214" "00006" "FBXL4_000113" "g.99328430A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98880554A>G" "" "VUS" "ACMG" "0000235168" "0" "50" "6" "99328416" "99328416" "subst" "1.22135E-5" "00006" "FBXL4_000109" "g.99328416C>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98880540C>G" "" "VUS" "ACMG" "0000235169" "0" "50" "6" "99328411" "99328411" "subst" "4.07242E-6" "00006" "FBXL4_000108" "g.99328411G>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98880535G>T" "" "VUS" "ACMG" "0000235170" "0" "50" "6" "99328425" "99328425" "subst" "4.06871E-6" "00006" "FBXL4_000111" "g.99328425T>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98880549T>A" "" "VUS" "ACMG" "0000235171" "0" "50" "6" "99328424" "99328424" "subst" "4.06908E-6" "00006" "FBXL4_000110" "g.99328424C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98880548C>T" "" "VUS" "ACMG" "0000235172" "0" "50" "6" "99328429" "99328429" "subst" "4.06871E-6" "00006" "FBXL4_000112" "g.99328429C>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98880553C>G" "" "VUS" "ACMG" "0000235173" "0" "50" "6" "99323620" "99323620" "subst" "4.15783E-6" "00006" "FBXL4_000107" "g.99323620T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875744T>C" "" "VUS" "ACMG" "0000235174" "0" "50" "6" "99323603" "99323603" "subst" "4.13763E-5" "00006" "FBXL4_000106" "g.99323603T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875727T>C" "" "VUS" "ACMG" "0000235175" "0" "50" "6" "99323597" "99323597" "subst" "4.13107E-6" "00006" "FBXL4_000105" "g.99323597C>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875721C>G" "" "VUS" "ACMG" "0000235176" "0" "50" "6" "99323594" "99323594" "subst" "4.12718E-6" "00006" "FBXL4_000104" "g.99323594A>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875718A>T" "" "VUS" "ACMG" "0000235177" "0" "50" "6" "99323593" "99323593" "subst" "0.000103177" "00006" "FBXL4_000103" "g.99323593T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875717T>C" "" "VUS" "ACMG" "0000235178" "0" "50" "6" "99323571" "99323571" "subst" "8.21693E-6" "00006" "FBXL4_000102" "g.99323571T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875695T>C" "" "VUS" "ACMG" "0000235179" "0" "30" "6" "99323565" "99323565" "subst" "1.64117E-5" "00006" "FBXL4_000101" "g.99323565G>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875689G>T" "" "likely benign" "ACMG" "0000235180" "0" "50" "6" "99323553" "99323553" "subst" "4.09477E-6" "00006" "FBXL4_000100" "g.99323553T>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875677T>A" "" "VUS" "ACMG" "0000235181" "0" "50" "6" "99323548" "99323548" "subst" "0.000404842" "00006" "FBXL4_000099" "g.99323548C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875672C>T" "" "VUS" "ACMG" "0000235182" "0" "30" "6" "99323544" "99323544" "subst" "1.22605E-5" "00006" "FBXL4_000098" "g.99323544G>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875668G>C" "" "likely benign" "ACMG" "0000235183" "0" "30" "6" "99323529" "99323529" "subst" "2.03721E-5" "00006" "FBXL4_000097" "g.99323529T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875653T>C" "" "likely benign" "ACMG" "0000235184" "0" "50" "6" "99323525" "99323525" "subst" "4.07219E-6" "00006" "FBXL4_000096" "g.99323525T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875649T>C" "" "VUS" "ACMG" "0000235185" "0" "50" "6" "99323510" "99323510" "subst" "3.25645E-5" "00006" "FBXL4_000095" "g.99323510T>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875634T>G" "" "VUS" "ACMG" "0000235186" "0" "50" "6" "99323485" "99323485" "subst" "8.14153E-6" "00006" "FBXL4_000094" "g.99323485C>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875609C>A" "" "VUS" "ACMG" "0000235187" "0" "30" "6" "99323475" "99323475" "subst" "4.06921E-6" "00006" "FBXL4_000093" "g.99323475T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875599T>C" "" "likely benign" "ACMG" "0000235188" "0" "50" "6" "99323467" "99323467" "subst" "4.06891E-6" "00006" "FBXL4_000092" "g.99323467T>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875591T>G" "" "VUS" "ACMG" "0000235189" "0" "50" "6" "99323465" "99323465" "subst" "4.06904E-6" "00006" "FBXL4_000091" "g.99323465G>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875589G>C" "" "VUS" "ACMG" "0000235190" "0" "50" "6" "99323460" "99323460" "subst" "4.06901E-6" "00006" "FBXL4_000090" "g.99323460G>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875584G>T" "" "VUS" "ACMG" "0000235191" "0" "50" "6" "99323447" "99323447" "subst" "1.62741E-5" "00006" "FBXL4_000089" "g.99323447G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875571G>A" "" "VUS" "ACMG" "0000235192" "0" "50" "6" "99323444" "99323444" "subst" "4.06822E-6" "00006" "FBXL4_000088" "g.99323444T>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875568T>G" "" "VUS" "ACMG" "0000235193" "0" "50" "6" "99323440" "99323440" "subst" "4.06865E-6" "00006" "FBXL4_000087" "g.99323440A>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875564A>C" "" "VUS" "ACMG" "0000235194" "0" "50" "6" "99323429" "99323429" "subst" "2.44105E-5" "00006" "FBXL4_000086" "g.99323429T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875553T>C" "" "VUS" "ACMG" "0000235195" "0" "10" "6" "99323427" "99323427" "subst" "0.000244149" "00006" "FBXL4_000085" "g.99323427G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875551G>A" "" "benign" "ACMG" "0000235196" "0" "50" "6" "99323426" "99323426" "subst" "4.06891E-6" "00006" "FBXL4_000084" "g.99323426C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875550C>T" "" "VUS" "ACMG" "0000235197" "0" "10" "6" "99323424" "99323424" "subst" "0.0565434" "00006" "FBXL4_000082" "g.99323424C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875548C>T" "" "benign" "ACMG" "0000235198" "0" "50" "6" "99323424" "99323424" "subst" "2.03437E-5" "00006" "FBXL4_000083" "g.99323424C>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875548C>G" "" "VUS" "ACMG" "0000235199" "0" "50" "6" "99323413" "99323413" "subst" "1.62747E-5" "00006" "FBXL4_000081" "g.99323413C>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875537C>A" "" "VUS" "ACMG" "0000235200" "0" "50" "6" "99374707" "99374707" "subst" "4.06204E-6" "00006" "FBXL4_000312" "g.99374707T>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926831T>A" "" "VUS" "ACMG" "0000235201" "0" "50" "6" "99323401" "99323401" "subst" "8.13683E-6" "00006" "FBXL4_000080" "g.99323401T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875525T>C" "" "VUS" "ACMG" "0000235202" "0" "50" "6" "99323399" "99323399" "subst" "2.84796E-5" "00006" "FBXL4_000079" "g.99323399G>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875523G>C" "" "VUS" "ACMG" "0000235203" "0" "50" "6" "99374850" "99374850" "subst" "2.03643E-5" "00006" "FBXL4_000348" "g.99374850A>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926974A>T" "" "VUS" "ACMG" "0000235204" "0" "50" "6" "99374847" "99374849" "del" "8.14472E-6" "00006" "FBXL4_000347" "g.99374847_99374849del" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "c.16_18delCCC" "" "Germline" "" "" "0" "" "" "g.98926971_98926973del" "" "VUS" "ACMG" "0000235205" "0" "50" "6" "99323376" "99323376" "subst" "4.06851E-6" "00006" "FBXL4_000078" "g.99323376A>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875500A>C" "" "VUS" "ACMG" "0000235206" "0" "30" "6" "99323367" "99323367" "subst" "0" "00006" "FBXL4_000077" "g.99323367A>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875491A>C" "" "likely benign" "ACMG" "0000235207" "0" "50" "6" "99323365" "99323365" "subst" "4.06901E-6" "00006" "FBXL4_000076" "g.99323365T>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875489T>G" "" "VUS" "ACMG" "0000235208" "0" "50" "6" "99323362" "99323362" "subst" "4.06914E-6" "00006" "FBXL4_000075" "g.99323362C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875486C>T" "" "VUS" "ACMG" "0000235209" "0" "30" "6" "99323337" "99323337" "subst" "4.07256E-6" "00006" "FBXL4_000074" "g.99323337A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875461A>G" "" "likely benign" "ACMG" "0000235210" "0" "30" "6" "99323331" "99323331" "subst" "4.07508E-6" "00006" "FBXL4_000073" "g.99323331C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875455C>T" "" "likely benign" "ACMG" "0000235211" "0" "50" "6" "99323323" "99323323" "subst" "1.22288E-5" "00006" "FBXL4_000072" "g.99323323T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875447T>C" "" "VUS" "ACMG" "0000235212" "0" "50" "6" "99323321" "99323321" "subst" "8.15395E-6" "00006" "FBXL4_000071" "g.99323321A>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875445A>C" "" "VUS" "ACMG" "0000235213" "0" "50" "6" "99374698" "99374698" "subst" "0" "00006" "FBXL4_000311" "g.99374698T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926822T>C" "" "VUS" "ACMG" "0000235214" "0" "50" "6" "99323312" "99323312" "subst" "1.22415E-5" "00006" "FBXL4_000070" "g.99323312A>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875436A>T" "" "VUS" "ACMG" "0000235215" "0" "50" "6" "99323308" "99323308" "subst" "4.08163E-6" "00006" "FBXL4_000069" "g.99323308T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875432T>C" "" "VUS" "ACMG" "0000235216" "0" "30" "6" "99323304" "99323304" "subst" "4.08483E-6" "00006" "FBXL4_000068" "g.99323304C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875428C>T" "" "likely benign" "ACMG" "0000235217" "0" "30" "6" "99323294" "99323294" "subst" "5.31541E-5" "00006" "FBXL4_000067" "g.99323294A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875418A>G" "" "likely benign" "ACMG" "0000235218" "0" "50" "6" "99323293" "99323293" "subst" "4.08878E-6" "00006" "FBXL4_000066" "g.99323293A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875417A>G" "" "VUS" "ACMG" "0000235219" "0" "50" "6" "99323280" "99323280" "subst" "4.10065E-6" "00006" "FBXL4_000064" "g.99323280T>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875404T>A" "" "VUS" "ACMG" "0000235220" "0" "50" "6" "99323273" "99323273" "subst" "4.10897E-6" "00006" "FBXL4_000063" "g.99323273T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875397T>C" "" "VUS" "ACMG" "0000235221" "0" "50" "6" "99323285" "99323285" "subst" "1.22893E-5" "00006" "FBXL4_000065" "g.99323285C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98875409C>T" "" "VUS" "ACMG" "0000235222" "0" "50" "6" "99322327" "99322327" "subst" "4.35973E-6" "00006" "FBXL4_000061" "g.99322327G>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98874451G>T" "" "VUS" "ACMG" "0000235223" "0" "50" "6" "99322331" "99322331" "subst" "1.36504E-5" "00006" "FBXL4_000062" "g.99322331A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98874455A>G" "" "VUS" "ACMG" "0000235224" "0" "50" "6" "99322326" "99322326" "subst" "0" "00006" "FBXL4_000060" "g.99322326G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98874450G>A" "" "VUS" "ACMG" "0000235225" "0" "50" "6" "99322307" "99322307" "subst" "1.7101E-5" "00006" "FBXL4_000059" "g.99322307C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98874431C>T" "" "VUS" "ACMG" "0000235226" "0" "50" "6" "99322299" "99322299" "subst" "4.19133E-6" "00006" "FBXL4_000057" "g.99322299G>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98874423G>T" "" "VUS" "ACMG" "0000235227" "0" "50" "6" "99322299" "99322299" "subst" "3.35306E-5" "00006" "FBXL4_000058" "g.99322299G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98874423G>A" "" "VUS" "ACMG" "0000235228" "0" "10" "6" "99322298" "99322298" "subst" "2.09795E-5" "00006" "FBXL4_000056" "g.99322298C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98874422C>T" "" "benign" "ACMG" "0000235229" "0" "50" "6" "99322297" "99322297" "subst" "4.19741E-6" "00006" "FBXL4_000054" "g.99322297C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98874421C>T" "" "VUS" "ACMG" "0000235230" "0" "50" "6" "99322297" "99322297" "subst" "8.81457E-5" "00006" "FBXL4_000055" "g.99322297C>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98874421C>A" "" "VUS" "ACMG" "0000235231" "0" "30" "6" "99322291" "99322291" "subst" "0" "00006" "FBXL4_000053" "g.99322291A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98874415A>G" "" "likely benign" "ACMG" "0000235232" "0" "50" "6" "99322281" "99322281" "subst" "4.16032E-6" "00006" "FBXL4_000051" "g.99322281A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98874405A>G" "" "VUS" "ACMG" "0000235233" "0" "50" "6" "99322281" "99322281" "subst" "8.32064E-6" "00006" "FBXL4_000052" "g.99322281A>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98874405A>C" "" "VUS" "ACMG" "0000235234" "0" "50" "6" "99322275" "99322275" "subst" "4.13268E-6" "00006" "FBXL4_000049" "g.99322275T>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98874399T>G" "" "VUS" "ACMG" "0000235235" "0" "50" "6" "99322275" "99322275" "subst" "1.2398E-5" "00006" "FBXL4_000050" "g.99322275T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98874399T>C" "" "VUS" "ACMG" "0000235236" "0" "50" "6" "99322272" "99322272" "subst" "4.11353E-6" "00006" "FBXL4_000048" "g.99322272G>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98874396G>C" "" "VUS" "ACMG" "0000235237" "0" "50" "6" "99322269" "99322269" "subst" "1.63551E-5" "00006" "FBXL4_000047" "g.99322269C>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98874393C>A" "" "VUS" "ACMG" "0000235238" "0" "50" "6" "99322260" "99322260" "subst" "4.08968E-6" "00006" "FBXL4_000046" "g.99322260A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98874384A>G" "" "VUS" "ACMG" "0000235239" "0" "30" "6" "99322256" "99322256" "subst" "8.1638E-6" "00006" "FBXL4_000045" "g.99322256A>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98874380A>C" "" "likely benign" "ACMG" "0000235240" "0" "50" "6" "99374689" "99374689" "subst" "3.24955E-5" "00006" "FBXL4_000310" "g.99374689A>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926813A>C" "" "VUS" "ACMG" "0000235241" "0" "50" "6" "99322248" "99322248" "subst" "4.07857E-6" "00006" "FBXL4_000044" "g.99322248T>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98874372T>G" "" "VUS" "ACMG" "0000235242" "0" "30" "6" "99322247" "99322247" "subst" "8.15854E-6" "00006" "FBXL4_000043" "g.99322247A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98874371A>G" "" "likely benign" "ACMG" "0000235243" "0" "50" "6" "99322242" "99322242" "subst" "8.15634E-6" "00006" "FBXL4_000042" "g.99322242G>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98874366G>C" "" "VUS" "ACMG" "0000235244" "0" "30" "6" "99322241" "99322241" "subst" "4.07914E-6" "00006" "FBXL4_000041" "g.99322241G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98874365G>A" "" "likely benign" "ACMG" "0000235245" "0" "50" "6" "99322233" "99322233" "subst" "8.15887E-6" "00006" "FBXL4_000040" "g.99322233G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98874357G>A" "" "VUS" "ACMG" "0000235246" "0" "30" "6" "99322232" "99322232" "subst" "1.63243E-5" "00006" "FBXL4_000038" "g.99322232C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98874356C>T" "" "likely benign" "ACMG" "0000235247" "0" "30" "6" "99322232" "99322232" "subst" "4.08107E-6" "00006" "FBXL4_000039" "g.99322232C>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98874356C>A" "" "likely benign" "ACMG" "0000235248" "0" "50" "6" "99322224" "99322224" "subst" "1.63324E-5" "00006" "FBXL4_000037" "g.99322224T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98874348T>C" "" "VUS" "ACMG" "0000235249" "0" "50" "6" "99322194" "99322194" "subst" "2.08354E-5" "00006" "FBXL4_000036" "g.99322194C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98874318C>T" "" "VUS" "ACMG" "0000235250" "0" "50" "6" "99322161" "99322161" "subst" "8.78457E-6" "00006" "FBXL4_000035" "g.99322161G>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98874285G>C" "" "VUS" "ACMG" "0000235251" "0" "50" "6" "99322143" "99322143" "subst" "3.36471E-5" "00006" "FBXL4_000029" "g.99322143C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.98874267C>T" "" "VUS" "ACMG" "0000235252" "0" "50" "6" "99322136" "99322136" "subst" "5.02598E-6" "00006" "FBXL4_000028" "g.99322136T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.98874260T>C" "" "VUS" "ACMG" "0000235253" "0" "50" "6" "99322149" "99322151" "delins" "0" "00006" "FBXL4_000032" "g.99322149_99322151delinsCTG" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "c.1866+3_+5delTAAinsCAG" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.98874273_98874275delinsCTG" "" "VUS" "ACMG" "0000235254" "0" "10" "6" "99322151" "99322151" "subst" "0.00403455" "00006" "FBXL4_000034" "g.99322151A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.98874275A>G" "" "benign" "ACMG" "0000235255" "0" "50" "6" "99322150" "99322150" "subst" "9.19819E-6" "00006" "FBXL4_000033" "g.99322150T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.98874274T>C" "" "VUS" "ACMG" "0000235256" "0" "10" "6" "99322149" "99322149" "subst" "0.00087382" "00006" "FBXL4_000031" "g.99322149T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.98874273T>C" "" "benign" "ACMG" "0000235257" "0" "30" "6" "99322145" "99322145" "subst" "0.000987643" "00006" "FBXL4_000030" "g.99322145T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.98874269T>C" "" "likely benign" "ACMG" "0000235258" "0" "30" "6" "99374847" "99374847" "subst" "8.1479E-6" "00006" "FBXL4_000346" "g.99374847G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926971G>A" "" "likely benign" "ACMG" "0000235259" "0" "50" "6" "99374671" "99374671" "subst" "4.06154E-6" "00006" "FBXL4_000309" "g.99374671T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926795T>C" "" "VUS" "ACMG" "0000235260" "0" "50" "6" "99374664" "99374664" "subst" "8.12255E-6" "00006" "FBXL4_000308" "g.99374664A>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926788A>C" "" "VUS" "ACMG" "0000235261" "0" "50" "6" "99374656" "99374656" "subst" "4.06121E-6" "00006" "FBXL4_000307" "g.99374656C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926780C>T" "" "VUS" "ACMG" "0000235262" "0" "50" "6" "99374845" "99374845" "subst" "1.22146E-5" "00006" "FBXL4_000345" "g.99374845A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926969A>G" "" "VUS" "ACMG" "0000235263" "0" "30" "6" "99374649" "99374649" "subst" "4.06124E-6" "00006" "FBXL4_000306" "g.99374649G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926773G>A" "" "likely benign" "ACMG" "0000235264" "0" "30" "6" "99374646" "99374646" "subst" "8.12236E-6" "00006" "FBXL4_000305" "g.99374646A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926770A>G" "" "likely benign" "ACMG" "0000235265" "0" "50" "6" "99374644" "99374644" "subst" "4.06118E-6" "00006" "FBXL4_000304" "g.99374644G>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926768G>C" "" "VUS" "ACMG" "0000235266" "0" "50" "6" "99374635" "99374635" "subst" "4.06118E-6" "00006" "FBXL4_000303" "g.99374635T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926759T>C" "" "VUS" "ACMG" "0000235267" "0" "50" "6" "99374842" "99374842" "subst" "4.0711E-6" "00006" "FBXL4_000344" "g.99374842A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926966A>G" "" "VUS" "ACMG" "0000235268" "0" "30" "6" "99374616" "99374616" "subst" "1.62454E-5" "00006" "FBXL4_000301" "g.99374616A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926740A>G" "" "likely benign" "ACMG" "0000235269" "0" "50" "6" "99374616" "99374616" "subst" "2.84294E-5" "00006" "FBXL4_000302" "g.99374616A>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926740A>C" "" "VUS" "ACMG" "0000235270" "0" "50" "6" "99374613" "99374613" "subst" "2.43681E-5" "00006" "FBXL4_000300" "g.99374613T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926737T>C" "" "VUS" "ACMG" "0000235271" "0" "50" "6" "99374572" "99374572" "subst" "1.21869E-5" "00006" "FBXL4_000299" "g.99374572C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926696C>T" "" "VUS" "ACMG" "0000235272" "0" "30" "6" "99374565" "99374565" "subst" "8.93699E-5" "00006" "FBXL4_000298" "g.99374565A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926689A>G" "" "likely benign" "ACMG" "0000235273" "0" "50" "6" "99374533" "99374533" "subst" "1.62534E-5" "00006" "FBXL4_000297" "g.99374533G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926657G>A" "" "VUS" "ACMG" "0000235274" "0" "50" "6" "99374530" "99374530" "subst" "4.06256E-5" "00006" "FBXL4_000296" "g.99374530A>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926654A>C" "" "VUS" "ACMG" "0000235275" "0" "30" "6" "99374832" "99374832" "subst" "4.06884E-6" "00006" "FBXL4_000343" "g.99374832C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926956C>T" "" "likely benign" "ACMG" "0000235276" "0" "50" "6" "99374515" "99374515" "subst" "4.06283E-6" "00006" "FBXL4_000295" "g.99374515G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926639G>A" "" "VUS" "ACMG" "0000235277" "0" "10" "6" "99374514" "99374514" "subst" "0.000150344" "00006" "FBXL4_000294" "g.99374514C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926638C>T" "" "benign" "ACMG" "0000235278" "0" "50" "6" "99374512" "99374512" "subst" "3.25016E-5" "00006" "FBXL4_000293" "g.99374512G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926636G>A" "" "VUS" "ACMG" "0000235279" "0" "50" "6" "99374830" "99374830" "subst" "4.06904E-6" "00006" "FBXL4_000342" "g.99374830G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926954G>A" "" "VUS" "ACMG" "0000235280" "0" "30" "6" "99374829" "99374829" "subst" "4.06911E-6" "00006" "FBXL4_000341" "g.99374829G>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926953G>C" "" "likely benign" "ACMG" "0000235281" "0" "50" "6" "99374494" "99374494" "subst" "4.06207E-6" "00006" "FBXL4_000292" "g.99374494T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926618T>C" "" "VUS" "ACMG" "0000235282" "0" "30" "6" "99374484" "99374484" "subst" "8.1246E-6" "00006" "FBXL4_000291" "g.99374484C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926608C>T" "" "likely benign" "ACMG" "0000235283" "0" "50" "6" "99374471" "99374471" "subst" "1.62479E-5" "00006" "FBXL4_000290" "g.99374471C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926595C>T" "" "VUS" "ACMG" "0000235284" "0" "30" "6" "99374469" "99374469" "subst" "4.062E-6" "00006" "FBXL4_000289" "g.99374469T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926593T>C" "" "likely benign" "ACMG" "0000235285" "0" "50" "6" "99374466" "99374466" "subst" "4.06184E-6" "00006" "FBXL4_000288" "g.99374466T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926590T>C" "" "VUS" "ACMG" "0000235286" "0" "50" "6" "99374862" "99374862" "subst" "4.08253E-6" "00006" "FBXL4_000027" "g.99374862C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926986C>T" "" "VUS" "ACMG" "0000235287" "0" "50" "6" "99374463" "99374463" "subst" "8.12414E-6" "00006" "FBXL4_000287" "g.99374463C>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926587C>A" "" "VUS" "ACMG" "0000235288" "0" "30" "6" "99374460" "99374460" "subst" "1.21874E-5" "00006" "FBXL4_000286" "g.99374460C>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926584C>G" "" "likely benign" "ACMG" "0000235289" "0" "50" "6" "99374449" "99374449" "subst" "4.062E-6" "00006" "FBXL4_000285" "g.99374449G>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926573G>C" "" "VUS" "ACMG" "0000235290" "0" "50" "6" "99374447" "99374447" "subst" "4.06237E-6" "00006" "FBXL4_000284" "g.99374447C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926571C>T" "" "VUS" "ACMG" "0000235291" "0" "10" "6" "99374436" "99374436" "subst" "0.00114167" "00006" "FBXL4_000283" "g.99374436T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926560T>C" "" "benign" "ACMG" "0000235292" "0" "50" "6" "99374431" "99374431" "subst" "8.12671E-6" "00006" "FBXL4_000282" "g.99374431G>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926555G>C" "" "VUS" "ACMG" "0000235293" "0" "50" "6" "99374425" "99374425" "subst" "1.21917E-5" "00006" "FBXL4_000281" "g.99374425T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926549T>C" "" "VUS" "ACMG" "0000235294" "0" "50" "6" "99374423" "99374423" "subst" "8.12783E-6" "00006" "FBXL4_000280" "g.99374423G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926547G>A" "" "VUS" "ACMG" "0000235295" "0" "50" "6" "99374422" "99374422" "subst" "4.06412E-6" "00006" "FBXL4_000279" "g.99374422G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926546G>A" "" "VUS" "ACMG" "0000235296" "0" "50" "6" "99374411" "99374411" "subst" "4.06765E-6" "00006" "FBXL4_000278" "g.99374411T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926535T>C" "" "VUS" "ACMG" "0000235297" "0" "30" "6" "99374820" "99374820" "subst" "8.13617E-6" "00006" "FBXL4_000340" "g.99374820A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926944A>G" "" "likely benign" "ACMG" "0000235298" "0" "10" "6" "99374400" "99374400" "subst" "0.0601309" "00006" "FBXL4_000277" "g.99374400G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926524G>A" "" "benign" "ACMG" "0000235299" "0" "10" "6" "99374397" "99374397" "subst" "0.00171555" "00006" "FBXL4_000276" "g.99374397A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926521A>G" "" "benign" "ACMG" "0000235300" "0" "50" "6" "99374819" "99374819" "subst" "4.06815E-6" "00006" "FBXL4_000339" "g.99374819A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926943A>G" "" "VUS" "ACMG" "0000235301" "0" "50" "6" "99374395" "99374395" "subst" "4.07824E-6" "00006" "FBXL4_000275" "g.99374395C>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926519C>A" "" "VUS" "ACMG" "0000235302" "0" "30" "6" "99374817" "99374817" "subst" "4.88166E-5" "00006" "FBXL4_000338" "g.99374817A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926941A>G" "" "likely benign" "ACMG" "0000235303" "0" "50" "6" "99374374" "99374374" "subst" "8.19592E-6" "00006" "FBXL4_000274" "g.99374374G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926498G>A" "" "VUS" "ACMG" "0000235304" "0" "50" "6" "99374372" "99374372" "subst" "1.23002E-5" "00006" "FBXL4_000273" "g.99374372T>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926496T>G" "" "VUS" "ACMG" "0000235305" "0" "50" "6" "99374816" "99374816" "subst" "2.44051E-5" "00006" "FBXL4_000336" "g.99374816T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926940T>C" "" "VUS" "ACMG" "0000235306" "0" "50" "6" "99374816" "99374816" "subst" "1.22026E-5" "00006" "FBXL4_000337" "g.99374816T>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926940T>A" "" "VUS" "ACMG" "0000235307" "0" "50" "6" "99374359" "99374359" "subst" "4.14147E-6" "00006" "FBXL4_000272" "g.99374359T>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926483T>G" "" "VUS" "ACMG" "0000235308" "0" "50" "6" "99365608" "99365608" "subst" "4.92388E-6" "00006" "FBXL4_000269" "g.99365608G>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917732G>T" "" "VUS" "ACMG" "0000235309" "0" "50" "6" "99365608" "99365608" "subst" "4.92388E-6" "00006" "FBXL4_000270" "g.99365608G>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917732G>C" "" "VUS" "ACMG" "0000235310" "0" "50" "6" "99365611" "99365611" "subst" "9.97665E-6" "00006" "FBXL4_000271" "g.99365611A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917735A>G" "" "VUS" "ACMG" "0000235311" "0" "50" "6" "99365582" "99365582" "subst" "5.32585E-5" "00006" "FBXL4_000268" "g.99365582A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917706A>G" "" "VUS" "ACMG" "0000235312" "0" "50" "6" "99365581" "99365581" "subst" "0.000208441" "00006" "FBXL4_000267" "g.99365581C>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917705C>G" "" "VUS" "ACMG" "0000235313" "0" "50" "6" "99365579" "99365579" "subst" "8.80088E-6" "00006" "FBXL4_000266" "g.99365579A>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917703A>T" "" "VUS" "ACMG" "0000235314" "0" "50" "6" "99365576" "99365576" "subst" "0" "00006" "FBXL4_000265" "g.99365576C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917700C>T" "" "VUS" "ACMG" "0000235315" "0" "30" "6" "99365568" "99365568" "subst" "5.01706E-5" "00006" "FBXL4_000264" "g.99365568A>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917692A>C" "" "likely benign" "ACMG" "0000235316" "0" "50" "6" "99365567" "99365567" "subst" "0.0002885" "00006" "FBXL4_000263" "g.99365567T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917691T>C" "" "VUS" "ACMG" "0000235317" "0" "50" "6" "99365566" "99365566" "subst" "1.2488E-5" "00006" "FBXL4_000262" "g.99365566G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917690G>A" "" "VUS" "ACMG" "0000235318" "0" "50" "6" "99365561" "99365561" "subst" "4.13288E-6" "00006" "FBXL4_000261" "g.99365561C>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917685C>G" "" "VUS" "ACMG" "0000235319" "0" "30" "6" "99365550" "99365550" "subst" "8.22071E-6" "00006" "FBXL4_000260" "g.99365550G>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917674G>C" "" "likely benign" "ACMG" "0000235320" "0" "50" "6" "99365549" "99365549" "subst" "0" "00006" "FBXL4_000259" "g.99365549G>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917673G>T" "" "VUS" "ACMG" "0000235321" "0" "50" "6" "99365543" "99365543" "subst" "8.20681E-5" "00006" "FBXL4_000258" "g.99365543G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917667G>A" "" "VUS" "ACMG" "0000235322" "0" "50" "6" "99365542" "99365542" "subst" "0" "00006" "FBXL4_000257" "g.99365542C>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917666C>A" "" "VUS" "ACMG" "0000235323" "0" "30" "6" "99365541" "99365541" "subst" "8.20385E-6" "00006" "FBXL4_000256" "g.99365541G>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917665G>T" "" "likely benign" "ACMG" "0000235324" "0" "50" "6" "99365538" "99365538" "subst" "4.0938E-6" "00006" "FBXL4_000255" "g.99365538C>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917662C>G" "" "VUS" "ACMG" "0000235325" "0" "50" "6" "99374807" "99374807" "subst" "4.88071E-5" "00006" "FBXL4_000335" "g.99374807G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926931G>A" "" "VUS" "ACMG" "0000235326" "0" "50" "6" "99365518" "99365518" "subst" "8.15248E-6" "00006" "FBXL4_000254" "g.99365518T>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917642T>G" "" "VUS" "ACMG" "0000235327" "0" "50" "6" "99365507" "99365507" "subst" "4.07239E-6" "00006" "FBXL4_000253" "g.99365507G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917631G>A" "" "VUS" "ACMG" "0000235328" "0" "50" "6" "99365501" "99365501" "subst" "8.14021E-6" "00006" "FBXL4_000252" "g.99365501T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917625T>C" "" "VUS" "ACMG" "0000235329" "0" "50" "6" "99374804" "99374804" "subst" "3.65979E-5" "00006" "FBXL4_000334" "g.99374804G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926928G>A" "" "VUS" "ACMG" "0000235330" "0" "50" "6" "99374803" "99374803" "subst" "4.0663E-6" "00006" "FBXL4_000333" "g.99374803C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926927C>T" "" "VUS" "ACMG" "0000235331" "0" "50" "6" "99365474" "99365474" "subst" "4.06507E-6" "00006" "FBXL4_000251" "g.99365474A>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917598A>C" "" "VUS" "ACMG" "0000235332" "0" "50" "6" "99365471" "99365471" "subst" "4.06521E-6" "00006" "FBXL4_000250" "g.99365471G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917595G>A" "" "VUS" "ACMG" "0000235333" "0" "50" "6" "99365465" "99365465" "subst" "0" "00006" "FBXL4_000249" "g.99365465C>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917589C>G" "" "VUS" "ACMG" "0000235334" "0" "50" "6" "99365463" "99365463" "subst" "4.06504E-6" "00006" "FBXL4_000247" "g.99365463T>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917587T>G" "" "VUS" "ACMG" "0000235335" "0" "30" "6" "99365463" "99365463" "subst" "4.06504E-6" "00006" "FBXL4_000248" "g.99365463T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917587T>C" "" "likely benign" "ACMG" "0000235336" "0" "50" "6" "99374800" "99374800" "subst" "0.000146369" "00006" "FBXL4_000331" "g.99374800C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926924C>T" "" "VUS" "ACMG" "0000235337" "0" "50" "6" "99374800" "99374800" "subst" "6.91186E-5" "00006" "FBXL4_000332" "g.99374800C>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926924C>G" "" "VUS" "ACMG" "0000235338" "0" "30" "6" "99365442" "99365442" "subst" "4.06448E-6" "00006" "FBXL4_000246" "g.99365442T>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917566T>G" "" "likely benign" "ACMG" "0000235339" "0" "50" "6" "99365440" "99365440" "subst" "4.06441E-6" "00006" "FBXL4_000245" "g.99365440A>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917564A>C" "" "VUS" "ACMG" "0000235340" "0" "30" "6" "99365436" "99365436" "subst" "8.53534E-5" "00006" "FBXL4_000244" "g.99365436C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917560C>T" "" "likely benign" "ACMG" "0000235341" "0" "30" "6" "99365435" "99365435" "subst" "4.06455E-6" "00006" "FBXL4_000243" "g.99365435G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917559G>A" "" "likely benign" "ACMG" "0000235342" "0" "50" "6" "99365432" "99365432" "subst" "4.06405E-6" "00006" "FBXL4_000242" "g.99365432G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917556G>A" "" "VUS" "ACMG" "0000235343" "0" "50" "6" "99365426" "99365426" "subst" "1.62569E-5" "00006" "FBXL4_000241" "g.99365426C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917550C>T" "" "VUS" "ACMG" "0000235344" "0" "30" "6" "99374859" "99374859" "subst" "4.07631E-6" "00006" "FBXL4_000351" "g.99374859T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926983T>C" "" "likely benign" "ACMG" "0000235345" "0" "10" "6" "99365406" "99365406" "subst" "0" "00006" "FBXL4_000240" "g.99365406A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917530A>G" "" "benign" "ACMG" "0000235346" "0" "50" "6" "99374795" "99374795" "subst" "1.62591E-5" "00006" "FBXL4_000330" "g.99374795T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926919T>C" "" "VUS" "ACMG" "0000235347" "0" "30" "6" "99365394" "99365394" "subst" "2.03188E-5" "00006" "FBXL4_000239" "g.99365394A>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917518A>C" "" "likely benign" "ACMG" "0000235348" "0" "50" "6" "99365386" "99365386" "subst" "1.62555E-5" "00006" "FBXL4_000238" "g.99365386A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917510A>G" "" "VUS" "ACMG" "0000235349" "0" "50" "6" "99365384" "99365384" "subst" "3.65788E-5" "00006" "FBXL4_000237" "g.99365384C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917508C>T" "" "VUS" "ACMG" "0000235350" "0" "50" "6" "99365383" "99365383" "subst" "4.06395E-6" "00006" "FBXL4_000236" "g.99365383T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917507T>C" "" "VUS" "ACMG" "0000235351" "0" "50" "6" "99365378" "99365378" "subst" "1.62537E-5" "00006" "FBXL4_000235" "g.99365378T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917502T>C" "" "VUS" "ACMG" "0000235352" "0" "50" "6" "99365377" "99365377" "subst" "4.06362E-6" "00006" "FBXL4_000234" "g.99365377T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917501T>C" "" "VUS" "ACMG" "0000235353" "0" "30" "6" "99365373" "99365373" "subst" "1.62549E-5" "00006" "FBXL4_000233" "g.99365373A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917497A>G" "" "likely benign" "ACMG" "0000235354" "0" "50" "6" "99365372" "99365372" "subst" "4.06342E-6" "00006" "FBXL4_000232" "g.99365372T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917496T>C" "" "VUS" "ACMG" "0000235355" "0" "50" "6" "99365371" "99365371" "subst" "0.000642062" "00006" "FBXL4_000231" "g.99365371A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917495A>G" "" "VUS" "ACMG" "0000235356" "0" "10" "6" "99365364" "99365364" "subst" "2.03178E-5" "00006" "FBXL4_000230" "g.99365364A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917488A>G" "" "benign" "ACMG" "0000235357" "0" "50" "6" "99365361" "99365361" "subst" "8.93982E-5" "00006" "FBXL4_000228" "g.99365361A>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917485A>T" "" "VUS" "ACMG" "0000235358" "0" "30" "6" "99365361" "99365361" "subst" "8.12711E-6" "00006" "FBXL4_000229" "g.99365361A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917485A>G" "" "likely benign" "ACMG" "0000235359" "0" "50" "6" "99365359" "99365359" "subst" "4.06395E-6" "00006" "FBXL4_000227" "g.99365359G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917483G>A" "" "VUS" "ACMG" "0000235360" "0" "50" "6" "99365356" "99365356" "subst" "5.68856E-5" "00006" "FBXL4_000226" "g.99365356T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917480T>C" "" "VUS" "ACMG" "0000235361" "0" "50" "6" "99365353" "99365353" "subst" "8.12698E-6" "00006" "FBXL4_000225" "g.99365353G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917477G>A" "" "VUS" "ACMG" "0000235362" "0" "50" "6" "99365342" "99365342" "subst" "9.34405E-5" "00006" "FBXL4_000224" "g.99365342C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917466C>T" "" "VUS" "ACMG" "0000235363" "0" "50" "6" "99365335" "99365335" "subst" "4.06283E-6" "00006" "FBXL4_000223" "g.99365335C>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917459C>A" "" "VUS" "ACMG" "0000235364" "0" "50" "6" "99365332" "99365332" "subst" "1.21898E-5" "00006" "FBXL4_000222" "g.99365332A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917456A>G" "" "VUS" "ACMG" "0000235365" "0" "50" "6" "99365326" "99365326" "subst" "1.62582E-5" "00006" "FBXL4_000221" "g.99365326C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917450C>T" "" "VUS" "ACMG" "0000235366" "0" "30" "6" "99374787" "99374787" "subst" "6.09627E-5" "00006" "FBXL4_000329" "g.99374787A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926911A>G" "" "likely benign" "ACMG" "0000235367" "0" "50" "6" "99374786" "99374786" "subst" "0.000386041" "00006" "FBXL4_000328" "g.99374786T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926910T>C" "" "VUS" "ACMG" "0000235368" "0" "30" "6" "99365295" "99365295" "subst" "3.6741E-5" "00006" "FBXL4_000220" "g.99365295G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917419G>A" "" "likely benign" "ACMG" "0000235369" "0" "50" "6" "99365294" "99365294" "subst" "3.67449E-5" "00006" "FBXL4_000219" "g.99365294C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917418C>T" "" "VUS" "ACMG" "0000235370" "0" "50" "6" "99365290" "99365290" "subst" "4.08667E-6" "00006" "FBXL4_000218" "g.99365290T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917414T>C" "" "VUS" "ACMG" "0000235371" "0" "50" "6" "99365286" "99365286" "subst" "4.10846E-6" "00006" "FBXL4_000217" "g.99365286C>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917410C>A" "" "VUS" "ACMG" "0000235372" "0" "30" "6" "99365274" "99365274" "subst" "8.26521E-6" "00006" "FBXL4_000216" "g.99365274C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917398C>T" "" "likely benign" "ACMG" "0000235373" "0" "30" "6" "99365259" "99365259" "subst" "0" "00006" "FBXL4_000215" "g.99365259T>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98917383T>G" "" "likely benign" "ACMG" "0000235374" "0" "50" "6" "99353552" "99353552" "subst" "8.16587E-6" "00006" "FBXL4_000214" "g.99353552T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905676T>C" "" "VUS" "ACMG" "0000235375" "0" "50" "6" "99353534" "99353534" "subst" "1.22185E-5" "00006" "FBXL4_000213" "g.99353534T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905658T>C" "" "VUS" "ACMG" "0000235376" "0" "50" "6" "99353533" "99353533" "subst" "4.07173E-6" "00006" "FBXL4_000212" "g.99353533A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905657A>G" "" "VUS" "ACMG" "0000235377" "0" "50" "6" "99353531" "99353531" "subst" "8.14657E-6" "00006" "FBXL4_000211" "g.99353531G>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905655G>C" "" "VUS" "ACMG" "0000235378" "0" "30" "6" "99353526" "99353526" "subst" "4.0714E-6" "00006" "FBXL4_000210" "g.99353526A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905650A>G" "" "likely benign" "ACMG" "0000235379" "0" "30" "6" "99374778" "99374778" "subst" "4.06299E-6" "00006" "FBXL4_000327" "g.99374778T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926902T>C" "" "likely benign" "ACMG" "0000235380" "0" "30" "6" "99353514" "99353514" "subst" "1.62719E-5" "00006" "FBXL4_000209" "g.99353514T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905638T>C" "" "likely benign" "ACMG" "0000235381" "0" "50" "6" "99353512" "99353512" "subst" "4.06722E-6" "00006" "FBXL4_000208" "g.99353512G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905636G>A" "" "VUS" "ACMG" "0000235382" "0" "50" "6" "99374857" "99374857" "subst" "4.48504E-5" "00006" "FBXL4_000350" "g.99374857G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926981G>A" "" "VUS" "ACMG" "0000235383" "0" "50" "6" "99353504" "99353504" "subst" "1.62635E-5" "00006" "FBXL4_000207" "g.99353504A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905628A>G" "" "VUS" "ACMG" "0000235384" "0" "50" "6" "99353501" "99353501" "subst" "8.13187E-6" "00006" "FBXL4_000206" "g.99353501T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905625T>C" "" "VUS" "ACMG" "0000235385" "0" "10" "6" "99353499" "99353499" "subst" "4.06593E-5" "00006" "FBXL4_000205" "g.99353499T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905623T>C" "" "benign" "ACMG" "0000235386" "0" "50" "6" "99353492" "99353492" "subst" "1.62614E-5" "00006" "FBXL4_000204" "g.99353492G>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905616G>C" "" "VUS" "ACMG" "0000235387" "0" "50" "6" "99353486" "99353486" "subst" "4.06474E-6" "00006" "FBXL4_000203" "g.99353486A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905610A>G" "" "VUS" "ACMG" "0000235388" "0" "50" "6" "99374774" "99374774" "subst" "7.71969E-5" "00006" "FBXL4_000326" "g.99374774T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926898T>C" "" "VUS" "ACMG" "0000235389" "0" "50" "6" "99353482" "99353482" "subst" "4.06458E-6" "00006" "FBXL4_000202" "g.99353482T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905606T>C" "" "VUS" "ACMG" "0000235390" "0" "50" "6" "99353472" "99353472" "subst" "4.06464E-6" "00006" "FBXL4_000201" "g.99353472G>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905596G>C" "" "VUS" "ACMG" "0000235391" "0" "30" "6" "99353469" "99353469" "subst" "3.25142E-5" "00006" "FBXL4_000200" "g.99353469C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905593C>T" "" "likely benign" "ACMG" "0000235392" "0" "50" "6" "99353468" "99353468" "subst" "4.06428E-6" "00006" "FBXL4_000199" "g.99353468G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905592G>A" "" "VUS" "ACMG" "0000235393" "0" "50" "6" "99353461" "99353461" "subst" "4.06332E-6" "00006" "FBXL4_000198" "g.99353461C>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905585C>A" "" "VUS" "ACMG" "0000235394" "0" "50" "6" "99353459" "99353459" "subst" "4.06342E-6" "00006" "FBXL4_000197" "g.99353459C>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905583C>A" "" "VUS" "ACMG" "0000235395" "0" "50" "6" "99353456" "99353456" "subst" "4.06355E-6" "00006" "FBXL4_000196" "g.99353456G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905580G>A" "" "VUS" "ACMG" "0000235396" "0" "50" "6" "99353452" "99353452" "subst" "8.12625E-6" "00006" "FBXL4_000195" "g.99353452A>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905576A>C" "" "VUS" "ACMG" "0000235397" "0" "30" "6" "99353451" "99353451" "subst" "4.06329E-6" "00006" "FBXL4_000194" "g.99353451C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905575C>T" "" "likely benign" "ACMG" "0000235398" "0" "50" "6" "99353444" "99353444" "subst" "4.06296E-6" "00006" "FBXL4_000192" "g.99353444T>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905568T>G" "" "VUS" "ACMG" "0000235399" "0" "50" "6" "99353444" "99353444" "subst" "1.21889E-5" "00006" "FBXL4_000193" "g.99353444T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905568T>C" "" "VUS" "ACMG" "0000235400" "0" "50" "6" "99353434" "99353434" "subst" "8.12665E-6" "00006" "FBXL4_000191" "g.99353434T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905558T>C" "" "VUS" "ACMG" "0000235401" "0" "10" "6" "99353427" "99353427" "subst" "0.00555429" "00006" "FBXL4_000190" "g.99353427T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905551T>C" "" "benign" "ACMG" "0000235402" "0" "50" "6" "99353423" "99353423" "subst" "4.06342E-6" "00006" "FBXL4_000189" "g.99353423A>G" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905547A>G" "" "VUS" "ACMG" "0000235403" "0" "50" "6" "99353417" "99353417" "subst" "8.12803E-6" "00006" "FBXL4_000188" "g.99353417C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905541C>T" "" "VUS" "ACMG" "0000235404" "0" "50" "6" "99353416" "99353416" "subst" "2.03201E-5" "00006" "FBXL4_000186" "g.99353416G>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905540G>C" "" "VUS" "ACMG" "0000235405" "0" "50" "6" "99353416" "99353416" "subst" "4.06402E-6" "00006" "FBXL4_000187" "g.99353416G>A" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905540G>A" "" "VUS" "ACMG" "0000235406" "0" "50" "6" "99353414" "99353414" "subst" "2.03189E-5" "00006" "FBXL4_000185" "g.99353414T>C" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98905538T>C" "" "VUS" "ACMG" "0000235407" "0" "30" "6" "99374856" "99374856" "subst" "1.63086E-5" "00006" "FBXL4_000349" "g.99374856C>T" "" "{PMID:El-Hattab 2017:28940506}, {DOI:El-Hattab 2017:10.1002/humu.23341}" "" "" "" "Germline" "" "" "0" "" "" "g.98926980C>T" "" "likely benign" "ACMG" "0000241216" "3" "90" "6" "99322317" "99322317" "subst" "0" "00006" "FBXL4_000017" "g.99322317C>G" "" "{PMID:Gai 2013:23993194}" "" "" "" "Germline" "" "" "0" "" "" "g.98874441C>G" "" "pathogenic" "" "0000241217" "3" "90" "6" "99323549" "99323549" "subst" "2.45505E-5" "00006" "FBXL4_000025" "g.99323549G>A" "" "{PMID:Gai 2013:23993194}" "" "" "" "Germline" "" "" "0" "" "" "g.98875673G>A" "" "pathogenic" "" "0000241218" "2" "90" "6" "99322230" "99322230" "subst" "2.03927E-5" "00006" "FBXL4_000354" "g.99322230T>G" "" "{PMID:Gai 2013:23993194}" "" "" "" "Germline" "" "" "0" "" "" "g.98874354T>G" "" "pathogenic" "" "0000241219" "3" "90" "6" "99323299" "99323299" "subst" "0" "00006" "FBXL4_000018" "g.99323299T>C" "" "{PMID:Gai 2013:23993194}" "" "" "" "Germline" "" "" "0" "" "" "g.98875423T>C" "" "pathogenic" "" "0000241220" "3" "90" "6" "99323341" "99323341" "subst" "0" "00006" "FBXL4_000356" "g.99323341A>T" "" "{PMID:Gai 2013:23993194}" "" "" "" "Germline" "" "" "0" "" "" "g.98875465A>T" "" "pathogenic" "" "0000241221" "2" "90" "6" "99374759" "99374759" "subst" "8.12513E-6" "00006" "FBXL4_000369" "g.99374759T>A" "" "{PMID:Gai 2013:23993194}" "" "" "" "Germline" "" "" "0" "" "" "g.98926883T>A" "" "pathogenic" "" "0000241222" "3" "90" "6" "99347232" "99347232" "subst" "0" "00006" "FBXL4_000362" "g.99347232G>A" "" "{PMID:Gai 2013:23993194}" "" "" "" "Germline" "" "" "0" "" "" "g.98899356G>A" "" "pathogenic" "" "0000241223" "3" "90" "6" "99323438" "99323438" "subst" "0" "00006" "FBXL4_000012" "g.99323438G>A" "" "{PMID:Bonnen 2013:23993193}" "" "" "" "Germline" "" "" "0" "" "" "g.98875562G>A" "" "pathogenic" "" "0000241224" "3" "90" "6" "99347158" "99347158" "subst" "3.25547E-5" "00006" "FBXL4_000361" "g.99347158G>A" "" "{PMID:Bonnen 2013:23993193}" "" "" "" "Germline" "" "" "0" "" "" "g.98899282G>A" "" "pathogenic" "" "0000241225" "3" "90" "6" "99322317" "99322317" "subst" "0" "00006" "FBXL4_000017" "g.99322317C>G" "" "{PMID:Bonnen 2013:23993193}" "" "" "" "Germline" "" "" "0" "" "" "g.98874441C>G" "" "pathogenic" "" "0000241226" "3" "90" "6" "99347157" "99347157" "subst" "0" "00006" "FBXL4_000359" "g.99347157C>A" "" "{PMID:Huemer 2015:25868664}" "" "" "" "Germline" "" "" "0" "" "" "g.98899281C>A" "" "pathogenic" "" "0000241227" "3" "90" "6" "99365596" "99365596" "subst" "0" "00006" "FBXL4_000367" "g.99365596C>T" "" "{PMID:Huemer 2015:25868664}" "" "" "" "Germline" "" "" "0" "" "" "g.98917720C>T" "" "pathogenic" "" "0000241228" "3" "90" "6" "99328457" "99328457" "subst" "4.06752E-6" "00006" "FBXL4_000358" "g.99328457T>G" "" "{PMID:Huemer 2015:25868664}" "" "" "" "Germline" "" "" "0" "" "" "g.98880581T>G" "" "pathogenic" "" "0000241229" "3" "90" "6" "99365446" "99365446" "subst" "0" "00006" "FBXL4_000364" "g.99365446T>A" "" "{PMID:Huemer 2015:25868664}" "" "" "" "Germline" "" "" "0" "" "" "g.98917570T>A" "" "pathogenic" "" "0000241230" "3" "90" "6" "99347158" "99347158" "subst" "3.25547E-5" "00006" "FBXL4_000361" "g.99347158G>A" "" "{PMID:Huemer 2015:25868664}" "" "" "" "Germline" "" "" "0" "" "" "g.98899282G>A" "" "pathogenic" "" "0000241231" "2" "90" "6" "99347157" "99347157" "subst" "1.62798E-5" "00006" "FBXL4_000360" "g.99347157C>T" "" "{PMID:Huemer 2015:25868664}" "" "" "" "Germline" "" "" "0" "" "" "g.98899281C>T" "" "pathogenic" "" "0000241232" "2" "90" "6" "99322317" "99322317" "subst" "0" "00006" "FBXL4_000017" "g.99322317C>G" "" "{PMID:Huemer 2015:25868664}" "" "" "" "Germline" "" "" "0" "" "" "g.98874441C>G" "" "pathogenic" "" "0000241233" "2" "90" "6" "99365447" "99365447" "subst" "0" "00006" "FBXL4_000365" "g.99365447C>G" "" "{PMID:Huemer 2015:25868664}" "" "" "" "Germline" "" "" "0" "" "" "g.98917571C>G" "" "pathogenic" "" "0000241234" "3" "90" "6" "99322248" "99322248" "subst" "4.07857E-6" "00006" "FBXL4_000355" "g.99322248T>C" "" "{PMID:Huemer 2015:25868664}" "" "" "" "Germline" "" "" "0" "" "" "g.98874372T>C" "" "pathogenic" "" "0000241235" "3" "90" "6" "99323438" "99323438" "subst" "0" "00006" "FBXL4_000012" "g.99323438G>A" "" "{PMID:Huemer 2015:25868664}" "" "" "" "Germline" "" "" "0" "" "" "g.98875562G>A" "" "pathogenic" "" "0000241236" "3" "90" "6" "99353339" "99353339" "del" "0" "00006" "FBXL4_000363" "g.99353339del" "" "{PMID:Huemer 2015:25868664}" "" "1067delG" "" "Germline" "" "" "0" "" "" "g.98905463del" "" "pathogenic" "" "0000241237" "2" "90" "6" "99347157" "99347157" "subst" "1.62798E-5" "00006" "FBXL4_000360" "g.99347157C>T" "" "{PMID:Huemer 2015:25868664}" "" "" "" "Germline" "" "" "0" "" "" "g.98899281C>T" "" "pathogenic" "" "0000241238" "3" "90" "6" "99347229" "99347229" "subst" "8.13478E-6" "00006" "FBXL4_000020" "g.99347229C>T" "" "{PMID:Huemer 2015:25868664}" "" "" "" "Germline" "" "" "0" "" "" "g.98899353C>T" "" "pathogenic" "" "0000241239" "3" "90" "6" "99322317" "99322317" "subst" "0" "00006" "FBXL4_000017" "g.99322317C>G" "" "{PMID:Huemer 2015:25868664}" "" "" "" "Germline" "" "" "0" "" "" "g.98874441C>G" "" "pathogenic" "" "0000241240" "2" "90" "6" "99323432" "99323449" "del" "0" "00006" "FBXL4_000357" "g.99323432_99323449del" "" "{PMID:Huemer 2015:25868664}" "" "" "" "Germline" "" "" "0" "" "" "g.98875556_98875573del" "" "pathogenic" "" "0000241241" "3" "90" "6" "99323438" "99323438" "subst" "0" "00006" "FBXL4_000012" "g.99323438G>A" "" "{PMID:Huemer 2015:25868664}" "" "" "" "Germline" "" "" "0" "" "" "g.98875562G>A" "" "pathogenic" "" "0000241242" "3" "90" "6" "99374420" "99374420" "subst" "4.06488E-6" "00006" "FBXL4_000368" "g.99374420C>T" "" "{PMID:Huemer 2015:25868664}" "" "" "" "Germline" "" "" "0" "" "" "g.98926544C>T" "" "pathogenic" "" "0000241243" "2" "90" "6" "99374573" "99374573" "subst" "0" "00006" "FBXL4_000001" "g.99374573G>A" "" "{PMID:van Rij 2016:27099744}" "" "" "" "Germline" "" "" "0" "" "" "g.98926697G>A" "" "pathogenic" "" "0000241244" "1" "90" "6" "99353339" "99353339" "del" "0" "00006" "FBXL4_000363" "g.99353339del" "" "{PMID:Gai 2013:23993194}" "" "1067delG" "" "Germline" "" "" "0" "" "" "g.98905463del" "" "pathogenic" "" "0000241245" "1" "90" "6" "99347229" "99347229" "subst" "8.13478E-6" "00006" "FBXL4_000020" "g.99347229C>T" "" "{PMID:Huemer 2015:25868664}" "" "" "" "Germline" "" "" "0" "" "" "g.98899353C>T" "" "pathogenic" "" "0000241246" "1" "90" "6" "99347229" "99347229" "subst" "8.13478E-6" "00006" "FBXL4_000020" "g.99347229C>T" "" "{PMID:Huemer 2015:25868664}" "" "" "" "Germline" "" "" "0" "" "" "g.98899353C>T" "" "pathogenic" "" "0000241247" "1" "90" "6" "99347158" "99347158" "subst" "3.25547E-5" "00006" "FBXL4_000361" "g.99347158G>A" "" "{PMID:van Rij 2016:27099744}" "" "" "" "Germline" "" "" "0" "" "" "g.98899282G>A" "" "pathogenic" "" "0000241248" "1" "90" "6" "99323549" "99323549" "subst" "2.45505E-5" "00006" "FBXL4_000025" "g.99323549G>A" "" "{PMID:Huemer 2015:25868664}" "" "" "" "Germline" "" "" "0" "" "" "g.98875673G>A" "" "pathogenic" "" "0000241249" "1" "90" "6" "99323357" "99323358" "del" "0" "00006" "FBXL4_000010" "g.99323357_99323358del" "" "{PMID:Huemer 2015:25868664}" "" "1641_1642delTG" "" "Germline" "" "" "0" "" "" "g.98875481_98875482del" "" "pathogenic" "" "0000241250" "1" "90" "6" "99374549" "99374549" "subst" "0" "00006" "FBXL4_000009" "g.99374549G>A" "" "{PMID:Huemer 2015:25868664}" "" "" "" "Germline" "" "" "0" "" "" "g.98926673G>A" "" "pathogenic" "" "0000241251" "1" "90" "6" "99365494" "99365494" "subst" "0" "00006" "FBXL4_000366" "g.99365494A>G" "" "{PMID:Gai 2013:23993194}" "" "" "" "Germline" "" "" "0" "" "" "g.98917618A>G" "" "pathogenic" "" "0000341432" "0" "50" "6" "99347209" "99347209" "subst" "0" "02327" "FBXL4_000376" "g.99347209C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98899333C>G" "" "VUS" "" "0000342287" "0" "70" "6" "99374801" "99374801" "subst" "6.10103E-5" "02327" "FBXL4_000022" "g.99374801G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98926925G>A" "" "likely pathogenic" "" "0000343997" "0" "70" "6" "99365446" "99365446" "subst" "0" "02327" "FBXL4_000364" "g.99365446T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98917570T>A" "" "likely pathogenic" "" "0000346164" "0" "70" "6" "99322317" "99322317" "subst" "0" "02327" "FBXL4_000017" "g.99322317C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98874441C>G" "" "likely pathogenic" "" "0000368860" "21" "70" "6" "99323357" "99323358" "del" "0" "00719" "FBXL4_000010" "g.99323357_99323358del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.98875481_98875482del" "" "likely pathogenic" "" "0000530016" "0" "90" "6" "99323593" "99323594" "del" "0" "02327" "FBXL4_000377" "g.99323593_99323594del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98875717_98875718del" "" "pathogenic" "" "0000530018" "0" "90" "6" "99347157" "99347157" "subst" "0" "02327" "FBXL4_000359" "g.99347157C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98899281C>A" "" "pathogenic" "" "0000530019" "0" "30" "6" "99374760" "99374760" "subst" "0.0218939" "01804" "FBXL4_000322" "g.99374760A>T" "" "" "" "FBXL4(NM_001278716.2):c.105T>A (p.(His35Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98926884A>T" "" "likely benign" "" "0000629260" "11" "90" "6" "99365249" "99365249" "subst" "0" "00006" "FBXL4_000378" "g.99365249C>A" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "" "" "Germline" "" "" "0" "" "" "g.98917373C>A" "" "pathogenic" "" "0000629299" "0" "90" "6" "99347158" "99347158" "subst" "3.25547E-5" "00006" "FBXL4_000361" "g.99347158G>A" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "" "moderate genotype/phenotype correlation" "Germline/De novo (untested)" "" "" "0" "" "" "g.98899282G>A" "" "pathogenic" "" "0000629302" "3" "90" "6" "99374801" "99374801" "subst" "6.10103E-5" "00006" "FBXL4_000022" "g.99374801G>A" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "" "" "Germline" "" "" "0" "" "" "g.98926925G>A" "" "pathogenic" "" "0000629329" "21" "90" "6" "99365518" "99365518" "subst" "0" "00006" "FBXL4_000379" "g.99365518C>G" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.98917642C>G" "" "pathogenic" "" "0000629347" "21" "90" "6" "99374801" "99374801" "subst" "6.10103E-5" "00006" "FBXL4_000022" "g.99374801G>A" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "" "" "Germline" "" "" "0" "" "" "g.98926925G>A" "" "pathogenic" "" "0000655675" "0" "30" "6" "99374945" "99374946" "ins" "0" "02330" "FBXL4_000380" "g.99374945_99374946insAAAAAAAAA" "" "" "" "FBXL4(NM_001278716.1):c.-72-3_-72-2insTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98927069_98927070insAAAAAAAAA" "" "likely benign" "" "0000721143" "0" "30" "6" "99365568" "99365568" "subst" "5.01706E-5" "02326" "FBXL4_000264" "g.99365568A>C" "" "" "" "FBXL4(NM_012160.4):c.540T>G (p.P180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000763169" "3" "70" "6" "99323549" "99323549" "subst" "2.45505E-5" "00006" "FBXL4_000025" "g.99323549G>A" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PS1, PM2, PP1" "Germline" "" "" "0" "" "" "g.98875673G>A" "" "likely pathogenic" "ACMG" "0000802772" "0" "30" "6" "99365295" "99365295" "subst" "3.6741E-5" "01943" "FBXL4_000220" "g.99365295G>A" "" "" "" "FBXL4(NM_001278716.1):c.813C>T (p.L271=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964302" "0" "50" "6" "99328457" "99328457" "subst" "4.06752E-6" "02329" "FBXL4_000358" "g.99328457T>G" "" "" "" "FBXL4(NM_012160.5):c.1361A>C (p.Q454P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964303" "0" "50" "6" "99365543" "99365543" "subst" "8.20681E-5" "02329" "FBXL4_000258" "g.99365543G>A" "" "" "" "FBXL4(NM_012160.5):c.565C>T (p.R189C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964304" "0" "30" "6" "99374945" "99374946" "ins" "0" "02329" "FBXL4_000380" "g.99374945_99374946insAAAAAAAAA" "" "" "" "FBXL4(NM_001278716.2):c.-72-2_-72-1insTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977402" "0" "50" "6" "99365582" "99365582" "subst" "5.32585E-5" "01804" "FBXL4_000268" "g.99365582A>G" "" "" "" "FBXL4(NM_001278716.2):c.526T>C (p.(Trp176Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977403" "0" "30" "6" "99374436" "99374436" "subst" "0.00114167" "01804" "FBXL4_000283" "g.99374436T>C" "" "" "" "FBXL4(NM_001278716.2):c.429A>G (p.(Leu143=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001008562" "0" "90" "6" "99323357" "99323358" "del" "0" "00095" "FBXL4_000010" "g.99323357_99323358del" "" "{PMID:Legati 2016:26968897}" "" "C547*" "" "Germline" "" "" "0" "" "" "g.98875481_98875482del" "" "pathogenic" "" "0001008587" "2" "90" "6" "99347251" "99347251" "subst" "4.06934E-6" "00095" "FBXL4_000006" "g.99347251G>A" "" "{PMID:Legati 2016:26968897}" "" "Q404*" "" "Germline" "" "" "0" "" "" "g.98899375G>A" "" "pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes FBXL4 ## Count = 431 "{{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}}" "0000130064" "00024299" "70" "1648" "0" "1649" "0" "c.1648_1649del" "r.(?)" "p.(Asp550Hisfs*2)" "" "0000130112" "00024299" "70" "616" "0" "616" "0" "c.616C>T" "r.(?)" "p.(Arg206*)" "" "0000130155" "00024299" "70" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98*)" "" "0000130187" "00024299" "70" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98*)" "" "0000169042" "00024299" "90" "419" "0" "419" "0" "c.419T>C" "r.(?)" "p.(Val140Ala)" "3" "0000174357" "00024299" "90" "616" "0" "616" "0" "c.616C>T" "r.(?)" "p.(Arg206*)" "4" "0000174360" "00024299" "70" "1750" "0" "1750" "0" "c.1750T>C" "r.(?)" "p.(Cys584Arg)" "9" "0000174363" "00024299" "70" "1703" "0" "1703" "0" "c.1703G>C" "r.(spl?)" "p.(Gly568Ala)" "9" "0000174373" "00024299" "90" "1555" "0" "1555" "0" "c.1555C>T" "r.(?)" "p.(Gln519*)" "8" "0000174374" "00024299" "90" "219" "0" "219" "0" "c.219T>A" "r.(?)" "p.(Tyr73*)" "3" "0000174375" "00024299" "90" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98*)" "3" "0000174376" "00024299" "90" "1698" "0" "1698" "0" "c.1698A>G" "r.(?)" "p.(Ile566Met)" "8" "0000174377" "00024299" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.spl" "p.(Glu439=)" "6" "0000174378" "00024299" "90" "1555" "0" "1555" "0" "c.1555C>T" "r.(?)" "p.(Gln519*)" "8" "0000174379" "00024299" "90" "1698" "0" "1698" "0" "c.1698A>G" "r.(?)" "p.(Ile566Met)" "8" "0000174380" "00024299" "90" "316" "0" "316" "0" "c.316C>T" "r.(?)" "p.(Gln106*)" "3" "0000174381" "00024299" "70" "1703" "0" "1703" "0" "c.1703G>C" "r.spl?" "p.(Gly568Ala)" "9" "0000174382" "00024299" "90" "1648" "0" "1649" "0" "c.1648_1649del" "r.(?)" "p.(Asp550Hisfs*2)" "8" "0000174383" "00024299" "90" "1641" "0" "1642" "0" "c.1641_1642del" "r.(?)" "p.(Cys547*)" "8" "0000174384" "00024299" "70" "419" "0" "419" "0" "c.419T>C" "r.(?)" "p.(Val140Ala)" "3" "0000174385" "00024299" "90" "1210" "0" "1210" "0" "c.1210C>T" "r.(?)" "p.(Gln404*)" "6" "0000174386" "00024299" "90" "618" "0" "621" "0" "c.618_621dup" "r.(?)" "p.(Glu208Thrfs*5)" "4" "0000174387" "00024299" "90" "1641" "0" "1642" "0" "c.1641_1642del" "r.(?)" "p.(Cys547*)" "8" "0000174388" "00024299" "70" "1540" "0" "1540" "0" "c.1540T>G" "r.(?)" "p.(Trp514Gly)" "8" "0000174389" "00024299" "90" "326" "0" "326" "0" "c.326del" "r.(?)" "p.(Ser109Metfs*35)" "3" "0000174390" "00024299" "70" "1622" "0" "1622" "0" "c.1622C>T" "r.(?)" "p.(Thr541Ile)" "8" "0000174391" "00024299" "90" "1694" "0" "1694" "0" "c.1694A>G" "r.(?)" "p.(Asp565Gly)" "8" "0000177985" "00024299" "90" "219" "0" "219" "0" "c.219T>A" "r.(?)" "p.(Tyr73*)" "3" "0000177986" "00024299" "90" "1641" "0" "1642" "0" "c.1641_1642del" "r.(?)" "p.(Cys547*)" "8" "0000177987" "00024299" "90" "1641" "0" "1642" "0" "c.1641_1642del" "r.(?)" "p.(Cys547*)" "8" "0000177988" "00024299" "90" "1687" "0" "1687" "0" "c.1687C>T" "r.(?)" "p.(Gln563*)" "8" "0000177989" "00024299" "90" "1389" "3" "1389" "6" "c.1389+3_1389+6del" "r.spl?" "p.?" "7i" "0000177990" "00024299" "90" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Arg22*)" "3" "0000177991" "00024299" "90" "1703" "0" "1703" "0" "c.1703G>C" "r.(?)" "p.(Gly568Ala)" "9" "0000177992" "00024299" "90" "273" "0" "277" "0" "c.273_277del" "r.(?)" "p.(Phe91Leufs*17)" "3" "0000177993" "00024299" "90" "1641" "0" "1642" "0" "c.1641_1642del" "r.(?)" "p.(Cys547*)" "8" "0000177994" "00024299" "90" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Arg22*)" "3" "0000177995" "00024299" "90" "1622" "0" "1622" "0" "c.1622C>T" "r.(?)" "p.(Thr541Ile)" "8" "0000177996" "00024299" "90" "1838" "0" "1838" "0" "c.1838T>A" "r.(?)" "p.(Val613Glu)" "9" "0000177997" "00024299" "90" "1444" "0" "1444" "0" "c.1444C>T" "r.(?)" "p.(Arg482Trp)" "8" "0000177998" "00024299" "90" "1232" "0" "1232" "0" "c.1232G>A" "r.(?)" "p.(Cys411Tyr)" "6" "0000177999" "00024299" "90" "1641" "0" "1642" "0" "c.1641_1642del" "r.(?)" "p.(Cys547*)" "8" "0000235018" "00024299" "70" "419" "0" "419" "0" "c.419T>C" "r.(?)" "p.(Val140Ala)" "3" "0000235019" "00024299" "90" "-190" "-1" "858" "1" "c.(-191+1_-190-1)_(858+1_859-1)del" "r.?" "p.?" "1i_4i" "0000235081" "00024299" "50" "-15" "0" "-15" "0" "c.-15A>G" "r.(?)" "p.(=)" "3" "0000235082" "00024299" "50" "-16" "0" "-16" "0" "c.-16C>T" "r.(?)" "p.(=)" "3" "0000235083" "00024299" "30" "1009" "0" "1009" "0" "c.1009C>T" "r.(?)" "p.(=)" "5" "0000235084" "00024299" "50" "1011" "0" "1011" "0" "c.1011G>T" "r.(?)" "p.(=)" "5" "0000235085" "00024299" "30" "1020" "0" "1020" "0" "c.1020A>G" "r.(?)" "p.(=)" "5" "0000235086" "00024299" "50" "1025" "0" "1025" "0" "c.1025C>G" "r.(?)" "p.(Ser342Cys)" "5" "0000235087" "00024299" "50" "1027" "0" "1027" "0" "c.1027C>T" "r.(?)" "p.(Arg343Cys)" "5" "0000235088" "00024299" "50" "103" "0" "103" "0" "c.103C>T" "r.(?)" "p.(His35Tyr)" "3" "0000235089" "00024299" "50" "104" "0" "104" "0" "c.104A>G" "r.(?)" "p.(His35Arg)" "3" "0000235090" "00024299" "30" "1056" "0" "1056" "0" "c.1056A>G" "r.(?)" "p.(=)" "5" "0000235091" "00024299" "50" "1056" "0" "1056" "0" "c.1056A>T" "r.(?)" "p.(Leu352Phe)" "5" "0000235092" "00024299" "10" "105" "0" "105" "0" "c.105T>A" "r.(?)" "p.(His35Gln)" "3" "0000235093" "00024299" "50" "105" "0" "105" "0" "c.105T>C" "r.(?)" "p.(=)" "3" "0000235094" "00024299" "50" "1067" "0" "1067" "0" "c.1067G>C" "r.(?)" "p.(Gly356Ala)" "5" "0000235095" "00024299" "50" "1069" "0" "1069" "0" "c.1069A>G" "r.(?)" "p.(Asn357Asp)" "5" "0000235096" "00024299" "50" "1070" "0" "1070" "0" "c.1070A>G" "r.(?)" "p.(Asn357Ser)" "5" "0000235097" "00024299" "50" "1071" "0" "1071" "0" "c.1071T>G" "r.(?)" "p.(Asn357Lys)" "5" "0000235098" "00024299" "50" "1073" "0" "1073" "0" "c.1073G>A" "r.(?)" "p.(Arg358Lys)" "5" "0000235099" "00024299" "30" "1083" "0" "1083" "0" "c.1083C>T" "r.(?)" "p.(=)" "5" "0000235100" "00024299" "50" "1087" "0" "1087" "0" "c.1087G>T" "r.(?)" "p.(Val363Phe)" "5" "0000235101" "00024299" "50" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Ala37Thr)" "3" "0000235102" "00024299" "50" "1103" "12" "1103" "12" "c.1103+12G>A" "r.(?)" "p.(=)" "5i" "0000235103" "00024299" "50" "1103" "13" "1103" "13" "c.1103+13C>G" "r.(?)" "p.(=)" "5i" "0000235104" "00024299" "50" "1103" "13" "1103" "13" "c.1103+13C>T" "r.(?)" "p.(=)" "5i" "0000235105" "00024299" "50" "1103" "7" "1103" "7" "c.1103+7A>G" "r.(?)" "p.(=)" "5i" "0000235106" "00024299" "50" "1103" "0" "1103" "0" "c.1103G>A" "r.(?)" "p.(Arg368Lys)" "5" "0000235107" "00024299" "50" "1104" "-13" "1104" "-13" "c.1104-13G>T" "r.(?)" "p.(=)" "5i" "0000235108" "00024299" "50" "1104" "-19" "1104" "-19" "c.1104-19T>C" "r.(?)" "p.(=)" "5i" "0000235109" "00024299" "50" "1104" "-4" "1104" "-4" "c.1104-4G>A" "r.(?)" "p.(=)" "5i" "0000235110" "00024299" "50" "1104" "-4" "1104" "-4" "c.1104-4G>T" "r.(?)" "p.(=)" "5i" "0000235111" "00024299" "50" "1113" "0" "1113" "0" "c.1113G>C" "r.(?)" "p.(Lys371Asn)" "6" "0000235112" "00024299" "50" "1115" "0" "1115" "0" "c.1115T>C" "r.(?)" "p.(Val372Ala)" "6" "0000235113" "00024299" "10" "1125" "0" "1125" "0" "c.1125C>T" "r.(?)" "p.(=)" "6" "0000235114" "00024299" "50" "1126" "0" "1126" "0" "c.1126G>A" "r.(?)" "p.(Glu376Lys)" "6" "0000235115" "00024299" "50" "112" "0" "112" "0" "c.112A>G" "r.(?)" "p.(Ile38Val)" "3" "0000235116" "00024299" "50" "1135" "0" "1135" "0" "c.1135C>T" "r.(?)" "p.(Arg379Cys)" "6" "0000235117" "00024299" "50" "1136" "0" "1136" "0" "c.1136G>A" "r.(?)" "p.(Arg379His)" "6" "0000235118" "00024299" "50" "1139" "0" "1139" "0" "c.1139T>C" "r.(?)" "p.(Leu380Pro)" "6" "0000235119" "00024299" "30" "1149" "0" "1149" "0" "c.1149T>C" "r.(?)" "p.(=)" "6" "0000235120" "00024299" "50" "1153" "0" "1153" "0" "c.1153A>G" "r.(?)" "p.(Ser385Gly)" "6" "0000235121" "00024299" "50" "1156" "0" "1156" "0" "c.1156C>T" "r.(?)" "p.(His386Tyr)" "6" "0000235122" "00024299" "50" "1166" "0" "1166" "0" "c.1166A>G" "r.(?)" "p.(Asn389Ser)" "6" "0000235123" "00024299" "50" "1172" "0" "1172" "0" "c.1172C>G" "r.(?)" "p.(Thr391Ser)" "6" "0000235124" "00024299" "50" "1172" "0" "1172" "0" "c.1172C>T" "r.(?)" "p.(Thr391Ile)" "6" "0000235125" "00024299" "50" "1190" "0" "1190" "0" "c.1190C>A" "r.(?)" "p.(Ser397Tyr)" "6" "0000235126" "00024299" "30" "1194" "0" "1194" "0" "c.1194G>A" "r.(?)" "p.(=)" "6" "0000235127" "00024299" "50" "1195" "0" "1195" "0" "c.1195A>T" "r.(?)" "p.(Met399Leu)" "6" "0000235128" "00024299" "30" "1209" "0" "1209" "0" "c.1209A>G" "r.(?)" "p.(=)" "6" "0000235129" "00024299" "50" "1213" "0" "1213" "0" "c.1213G>A" "r.(?)" "p.(Ala405Thr)" "6" "0000235130" "00024299" "50" "1214" "0" "1214" "0" "c.1214C>A" "r.(?)" "p.(Ala405Asp)" "6" "0000235131" "00024299" "30" "1224" "0" "1224" "0" "c.1224C>G" "r.(?)" "p.(=)" "6" "0000235132" "00024299" "50" "1226" "0" "1226" "0" "c.1226C>A" "r.(?)" "p.(Ser409Tyr)" "6" "0000235133" "00024299" "50" "1244" "0" "1244" "0" "c.1244C>T" "r.(?)" "p.(Pro415Leu)" "6" "0000235134" "00024299" "50" "1247" "0" "1247" "0" "c.1247C>T" "r.(?)" "p.(Pro416Leu)" "6" "0000235135" "00024299" "50" "1251" "0" "1251" "0" "c.1251A>G" "r.(?)" "p.(=)" "6" "0000235136" "00024299" "50" "1252" "0" "1252" "0" "c.1252G>A" "r.(?)" "p.(Ala418Thr)" "6" "0000235137" "00024299" "30" "1254" "0" "1254" "0" "c.1254T>A" "r.(?)" "p.(=)" "6" "0000235138" "00024299" "50" "125" "0" "125" "0" "c.125G>A" "r.(?)" "p.(Ser42Asn)" "3" "0000235139" "00024299" "30" "1260" "0" "1260" "0" "c.1260C>T" "r.(?)" "p.(=)" "6" "0000235140" "00024299" "50" "1285" "0" "1285" "0" "c.1285A>G" "r.(?)" "p.(Lys429Glu)" "6" "0000235141" "00024299" "50" "1289" "0" "1289" "0" "c.1289G>A" "r.(?)" "p.(Arg430Gln)" "6" "0000235142" "00024299" "50" "1294" "0" "1294" "0" "c.1294G>A" "r.(?)" "p.(Val432Ile)" "6" "0000235143" "00024299" "50" "129" "0" "129" "0" "c.129G>C" "r.(?)" "p.(Gln43His)" "3" "0000235144" "00024299" "50" "130" "0" "130" "0" "c.130A>T" "r.(?)" "p.(Thr44Ser)" "3" "0000235145" "00024299" "50" "1311" "0" "1311" "0" "c.1311A>G" "r.(?)" "p.(=)" "6" "0000235146" "00024299" "50" "1317" "13" "1317" "13" "c.1317+13C>T" "r.(?)" "p.(=)" "6i" "0000235147" "00024299" "10" "1317" "14" "1317" "14" "c.1317+14A>G" "r.(?)" "p.(=)" "6i" "0000235148" "00024299" "50" "1317" "17" "1317" "17" "c.1317+17A>G" "r.(?)" "p.(=)" "6i" "0000235149" "00024299" "30" "1317" "19" "1317" "19" "c.1317+19T>G" "r.(?)" "p.(=)" "6i" "0000235150" "00024299" "50" "1318" "-10" "1318" "-10" "c.1318-10C>A" "r.(?)" "p.(=)" "6i" "0000235151" "00024299" "50" "1318" "-10" "1318" "-10" "c.1318-10C>T" "r.(?)" "p.(=)" "6i" "0000235152" "00024299" "50" "1318" "-15" "1318" "-15" "c.1318-15G>C" "r.(?)" "p.(=)" "6i" "0000235153" "00024299" "50" "1318" "-16" "1318" "-16" "c.1318-16T>C" "r.(?)" "p.(=)" "6i" "0000235154" "00024299" "50" "1318" "0" "1318" "0" "c.1318C>G" "r.(?)" "p.(Gln440Glu)" "7" "0000235155" "00024299" "50" "131" "0" "131" "0" "c.131C>A" "r.(?)" "p.(Thr44Asn)" "3" "0000235156" "00024299" "50" "1336" "0" "1336" "0" "c.1336A>G" "r.(?)" "p.(Ile446Val)" "7" "0000235157" "00024299" "30" "1339" "0" "1339" "0" "c.1339T>C" "r.(?)" "p.(=)" "7" "0000235158" "00024299" "50" "1344" "0" "1344" "0" "c.1344C>T" "r.(?)" "p.(=)" "7" "0000235159" "00024299" "50" "1349" "0" "1349" "0" "c.1349G>A" "r.(?)" "p.(Cys450Tyr)" "7" "0000235160" "00024299" "30" "1353" "0" "1353" "0" "c.1353A>G" "r.(?)" "p.(=)" "7" "0000235161" "00024299" "30" "1356" "0" "1356" "0" "c.1356G>A" "r.(?)" "p.(=)" "7" "0000235162" "00024299" "30" "135" "0" "135" "0" "c.135C>T" "r.(?)" "p.(=)" "3" "0000235163" "00024299" "50" "1370" "0" "1370" "0" "c.1370G>A" "r.(?)" "p.(Ser457Asn)" "7" "0000235164" "00024299" "50" "1379" "0" "1379" "0" "c.1379G>A" "r.(?)" "p.(Ser460Asn)" "7" "0000235165" "00024299" "50" "137" "0" "137" "0" "c.137C>G" "r.(?)" "p.(Pro46Arg)" "3" "0000235166" "00024299" "50" "137" "0" "137" "0" "c.137C>T" "r.(?)" "p.(Pro46Leu)" "3" "0000235167" "00024299" "50" "1388" "0" "1388" "0" "c.1388T>C" "r.(?)" "p.(Met463Thr)" "7" "0000235168" "00024299" "50" "1389" "13" "1389" "13" "c.1389+13G>C" "r.(?)" "p.(=)" "7i" "0000235169" "00024299" "50" "1389" "18" "1389" "18" "c.1389+18C>A" "r.(?)" "p.(=)" "7i" "0000235170" "00024299" "50" "1389" "4" "1389" "4" "c.1389+4A>T" "r.spl?" "p.(=)" "7i" "0000235171" "00024299" "50" "1389" "5" "1389" "5" "c.1389+5G>A" "r.spl?" "p.(=)" "7i" "0000235172" "00024299" "50" "1389" "0" "1389" "0" "c.1389G>C" "r.(?)" "p.(Met463Ile)" "7" "0000235173" "00024299" "50" "1390" "-17" "1390" "-17" "c.1390-17A>G" "r.(?)" "p.(=)" "7i" "0000235174" "00024299" "50" "1390" "0" "1390" "0" "c.1390A>G" "r.(?)" "p.(Ile464Val)" "8" "0000235175" "00024299" "50" "1396" "0" "1396" "0" "c.1396G>C" "r.(?)" "p.(Asp466His)" "8" "0000235176" "00024299" "50" "1399" "0" "1399" "0" "c.1399T>A" "r.(?)" "p.(Tyr467Asn)" "8" "0000235177" "00024299" "50" "1400" "0" "1400" "0" "c.1400A>G" "r.(?)" "p.(Tyr467Cys)" "8" "0000235178" "00024299" "50" "1422" "0" "1422" "0" "c.1422A>G" "r.(?)" "p.(Ile474Met)" "8" "0000235179" "00024299" "30" "1428" "0" "1428" "0" "c.1428C>A" "r.(?)" "p.(=)" "8" "0000235180" "00024299" "50" "1440" "0" "1440" "0" "c.1440A>T" "r.(?)" "p.(Lys480Asn)" "8" "0000235181" "00024299" "50" "1445" "0" "1445" "0" "c.1445G>A" "r.(?)" "p.(Arg482Gln)" "8" "0000235182" "00024299" "30" "1449" "0" "1449" "0" "c.1449C>G" "r.(?)" "p.(=)" "8" "0000235183" "00024299" "30" "1464" "0" "1464" "0" "c.1464A>G" "r.(?)" "p.(=)" "8" "0000235184" "00024299" "50" "1468" "0" "1468" "0" "c.1468A>G" "r.(?)" 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"p.(Gln519*)" "8" "0000241236" "00024299" "90" "1067" "0" "1067" "0" "c.1067del" "r.(?)" "p.(Gly356Alafs*15)" "5" "0000241237" "00024299" "90" "1304" "0" "1304" "0" "c.1304G>A" "r.(?)" "p.(Arg435Gln)" "6" "0000241238" "00024299" "90" "1232" "0" "1232" "0" "c.1232G>A" "r.(?)" "p.(Cys411Tyr)" "6" "0000241239" "00024299" "90" "1703" "0" "1703" "0" "c.1703G>C" "r.(?)" "p.(Gly568Ala)" "9" "0000241240" "00024299" "90" "1546" "0" "1563" "0" "c.1546_1563del" "r.(?)" "p.(Pro516_Ser521del)" "8" "0000241241" "00024299" "90" "1555" "0" "1555" "0" "c.1555C>T" "r.(?)" "p.(Gln519*)" "8" "0000241242" "00024299" "90" "445" "0" "445" "0" "c.445G>A" "r.(?)" "p.(Gly149Arg)" "3" "0000241243" "00024299" "90" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98*)" "3" "0000241244" "00024299" "90" "1067" "0" "1067" "0" "c.1067del" "r.(?)" "p.(Gly356Alafs*15)" "5" "0000241245" "00024299" "90" "1232" "0" "1232" "0" "c.1232G>A" "r.(?)" "p.(Cys411Tyr)" "6" "0000241246" "00024299" "90" "1232" "0" "1232" "0" "c.1232G>A" "r.(?)" "p.(Cys411Tyr)" "6" "0000241247" "00024299" "90" "1303" "0" "1303" "0" "c.1303C>T" "r.(?)" "p.(Arg435*)" "6" "0000241248" "00024299" "90" "1444" "0" "1444" "0" "c.1444C>T" "r.(?)" "p.(Arg482Trp)" "8" "0000241249" "00024299" "90" "1641" "0" "1642" "0" "c.1641_1642del" "r.(?)" "p.(Cys547*)" "8" "0000241250" "00024299" "90" "316" "0" "316" "0" "c.316C>T" "r.(?)" "p.(Gln106*)" "3" "0000241251" "00024299" "90" "614" "0" "614" "0" "c.614T>C" "r.(?)" "p.(Ile205Thr)" "4" "0000341432" "00024299" "50" "1252" "0" "1252" "0" "c.1252G>C" "r.(?)" "p.(Ala418Pro)" "" "0000342287" "00024299" "70" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Arg22Ter)" "" "0000343997" "00024299" "70" "662" "0" "662" "0" "c.662A>T" "r.(?)" "p.(Asp221Val)" "" "0000346164" "00024299" "70" "1703" "0" "1703" "0" "c.1703G>C" "r.(?)" "p.(Gly568Ala)" "" "0000368860" "00024299" "70" "1641" "0" "1642" "0" "c.1641_1642del" "r.(?)" "p.(Cys547*)" "" "0000530016" "00024299" "90" "1400" "0" "1401" "0" "c.1400_1401del" "r.(?)" "p.(Tyr467Ter)" "" "0000530018" "00024299" "90" "1304" "0" "1304" "0" "c.1304G>T" "r.(?)" "p.(Arg435Leu)" "" "0000530019" "00024299" "30" "105" "0" "105" "0" "c.105T>A" "r.(?)" "p.(His35Gln)" "" "0000629260" "00024299" "90" "858" "1" "858" "1" "c.858+1G>T" "r.spl?" "p.?" "" "0000629299" "00024299" "90" "1303" "0" "1303" "0" "c.1303C>T" "r.(?)" "p.(Arg435*)" "" "0000629302" "00024299" "90" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Arg22*)" "" "0000629329" "00024299" "90" "590" "0" "590" "0" "c.590G>C" "" "" "" "0000629347" "00024299" "90" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Arg22*)" "" "0000655675" "00024299" "30" "-72" "-3" "-72" "-2" "c.-72-3_-72-2insTTTTTTTTT" "r.spl?" "p.?" "" "0000721143" "00024299" "30" "540" "0" "540" "0" "c.540T>G" "r.(?)" "p.(Pro180=)" "" "0000763169" "00024299" "70" "1444" "0" "1444" "0" "c.1444C>T" "r.(?)" "p.(Arg482Trp)" "" "0000802772" "00024299" "30" "813" "0" "813" "0" "c.813C>T" "r.(?)" "p.(Leu271=)" "" "0000964302" "00024299" "50" "1361" "0" "1361" "0" "c.1361A>C" "r.(?)" "p.(Gln454Pro)" "" "0000964303" "00024299" "50" "565" "0" "565" "0" "c.565C>T" "r.(?)" "p.(Arg189Cys)" "" "0000964304" "00024299" "30" "-72" "-3" "-72" "-2" "c.-72-3_-72-2insTTTTTTTTT" "r.spl?" "p.?" "" "0000977402" "00024299" "50" "526" "0" "526" "0" "c.526T>C" "r.(?)" "p.(Trp176Arg)" "" "0000977403" "00024299" "30" "429" "0" "429" "0" "c.429A>G" "r.(?)" "p.(=)" "" "0001008562" "00024299" "90" "1641" "0" "1642" "0" "c.1641_1642del" "r.(?)" "p.(Cys547Ter)" "" "0001008587" "00024299" "90" "1210" "0" "1210" "0" "c.1210C>T" "r.(?)" "p.(Gln404Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 89 "{{screeningid}}" "{{variantid}}" "0000080978" "0000130064" "0000081026" "0000130112" "0000081069" "0000130155" "0000081101" "0000130187" "0000104362" "0000169042" "0000108409" "0000174357" "0000108410" "0000174360" "0000108411" "0000174363" "0000108419" "0000174373" "0000108420" "0000174374" "0000108421" "0000174375" "0000108422" "0000174376" "0000108423" "0000174377" "0000108424" "0000174378" "0000108425" "0000174379" "0000108426" "0000174380" "0000108426" "0000174381" "0000108427" "0000174382" "0000108428" "0000174383" "0000108428" "0000174384" "0000108429" "0000174385" "0000108430" "0000174386" "0000108430" "0000174387" "0000108431" "0000174388" "0000108432" "0000174389" "0000108432" "0000174390" "0000108433" "0000174391" "0000108434" "0000235019" "0000111002" "0000177985" "0000111003" "0000177986" "0000111004" "0000177987" "0000111005" "0000177988" "0000111005" "0000177995" "0000111006" "0000177989" "0000111006" "0000177996" "0000111007" "0000177990" "0000111007" "0000177997" "0000111008" "0000177991" "0000111009" "0000177992" "0000111010" "0000177993" "0000111010" "0000177998" "0000111011" "0000177994" "0000111011" "0000177999" "0000144548" "0000235018" "0000147944" "0000241216" "0000147945" "0000241217" "0000147946" "0000241218" "0000147946" "0000241244" "0000147947" "0000241219" "0000147948" "0000241220" "0000147949" "0000241221" "0000147949" "0000241251" "0000147950" "0000241222" "0000147951" "0000241223" "0000147952" "0000241224" "0000147953" "0000241225" "0000147954" "0000241226" "0000147955" "0000241227" "0000147956" "0000241228" "0000147957" "0000241229" "0000147958" "0000241230" "0000147959" "0000241231" "0000147959" "0000241245" "0000147960" "0000241232" "0000147960" "0000241250" "0000147961" "0000241233" "0000147961" "0000241249" "0000147962" "0000241234" "0000147963" "0000241235" "0000147964" "0000241236" "0000147965" "0000241237" "0000147965" "0000241246" "0000147966" "0000241238" "0000147967" "0000241239" "0000147968" "0000241240" "0000147968" "0000241248" "0000147969" "0000241241" "0000147970" "0000241242" "0000147971" "0000241243" "0000147971" "0000241247" "0000165215" "0000368860" "0000275296" "0000629260" "0000275296" "0000629329" "0000275335" "0000629299" "0000275335" "0000629347" "0000275338" "0000629302" "0000362795" "0000763169" "0000456316" "0001008562" "0000456316" "0001008587"