### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FBXW7) # 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}}" "FBXW7" "F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase" "4" "q31.23" "unknown" "LRG_1141" "UD_134408241457" "" "https://www.LOVD.nl/FBXW7" "" "1" "16712" "55294" "606278" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-07-20 19:45:44" "00000" "2026-02-19 14:27:03" ## Transcripts ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00007828" "FBXW7" "transcript variant 3" "002" "NM_001013415.1" "" "NP_001013433.1" "" "" "" "-177" "3393" "1770" "153303664" "153242410" "" "0000-00-00 00:00:00" "" "" "00025447" "FBXW7" "transcript variant 1" "002" "NM_033632.3" "" "NP_361014.1" "" "" "" "-162" "3747" "2124" "153456185" "153242410" "00006" "2019-07-20 19:47:07" "" "" "00025830" "FBXW7" "transcript variant 5" "000" "NM_001349798.2" "" "NP_001336727.1" "" "" "" "-1178" "4461" "2124" "153457244" "153241696" "00006" "2023-04-07 16:24:07" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00318" "cancer, breast" "cancer, breast" "" "" "" "" "" "00006" "2014-02-02 14:42:53" "00006" "2019-08-28 08:24:47" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00248264" "" "" "" "1" "" "01474" "{PMID:Lhota 2016:26822949}" "analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2" "F" "no" "Czech Republic" "" "0" "" "" "" "" "00434851" "" "" "" "1" "" "00006" "{PMID:Gostain 2020:32960281}" "" "F" "" "Canada" "" "0" "" "" "" "CMC17" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00248264" "00318" "00434851" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00318 ## Count = 2 "{{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}}" "0000187273" "00318" "00248264" "01474" "Unknown" "" "27y ductal breast cancer, subtype luminal B" "27y" "" "" "" "" "" "" "" "" "breast cancer" "" "0000325090" "00198" "00434851" "00006" "Isolated (sporadic)" "" "global developmental delay or intellectual disability, seizures, constipation" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000249369" "00248264" "1" "01474" "00006" "2015-12-04 13:41:45" "" "" "SEQ-NG-S" "DNA" "blood" "581 gene panel" "0000436323" "00434851" "1" "00006" "00006" "2023-04-07 18:27:15" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 27 "{{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}}" "0000343269" "0" "50" "4" "153244092" "153244092" "subst" "0" "02327" "FBXW7_000002" "g.153244092G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152322940G>A" "" "VUS" "" "0000521834" "0" "30" "4" "153303354" "153303354" "subst" "0.000611899" "01804" "FBXW7_000004" "g.153303354A>C" "" "" "" "FBXW7(NM_001013415.1):c.134T>G (p.(Phe45Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152382202A>C" "" "likely benign" "" "0000578134" "0" "70" "4" "153332646" "153332646" "del" "0" "01474" "FBXW7_000003" "g.153332646del" "" "{PMID:Lhota 2016:26822949}" "" "NM_033632.3:c.310delC (His104Metfs*65)" "" "Germline" "" "" "0" "" "" "g.152411494del" "" "VUS" "" "0000719780" "0" "30" "4" "153273871" "153273871" "subst" "6.52891E-5" "01943" "FBXW7_000006" "g.153273871C>T" "" "" "" "FBXW7(NM_018315.5):c.12G>A (p.P4=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801535" "0" "70" "4" "153250822" "153250822" "subst" "0" "02329" "FBXW7_000007" "g.153250822A>T" "" "" "" "FBXW7(NM_001349798.2):c.1236+2T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000859262" "0" "50" "4" "153332658" "153332658" "subst" "0" "02329" "FBXW7_000008" "g.153332658C>A" "" "" "" "FBXW7(NM_001349798.2):c.298G>T (p.E100*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912071" "0" "30" "4" "153244137" "153244137" "subst" "0.000578105" "02326" "FBXW7_000009" "g.153244137G>T" "" "" "" "FBXW7(NM_033632.3):c.2020C>A (p.R674=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000922685" "0" "90" "4" "153244237" "153244237" "subst" "0" "00006" "FBXW7_000010" "g.153244237G>T" "" "{PMID:Gostain 2020:32960281}" "" "NM_033632.3:c.1920C>A" "" "De novo" "" "" "0" "" "" "g.152323085G>T" "" "pathogenic (dominant)" "" "0000928873" "0" "50" "4" "153332617" "153332619" "del" "0" "02325" "FBXW7_000011" "g.153332617_153332619del" "" "" "" "FBXW7(NM_033632.3):c.349_351delGAG (p.E117del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976147" "0" "30" "4" "153271212" "153271212" "subst" "0" "01804" "FBXW7_000012" "g.153271212T>C" "" "" "" "FBXW7(NM_001349798.2):c.566A>G (p.(Lys189Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994122" "0" "50" "4" "153244235" "153244235" "subst" "0" "01804" "FBXW7_000013" "g.153244235G>C" "" "" "" "FBXW7(NM_033632.3):c.1922C>G (p.(Ser641*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994123" "0" "70" "4" "153249399" "153249399" "subst" "0" "02329" "FBXW7_000014" "g.153249399T>C" "" "" "" "FBXW7(NM_001349798.2):c.1379A>G (p.H460R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000994124" "0" "30" "4" "153273882" "153273882" "subst" "4.0857E-6" "01804" "FBXW7_000015" "g.153273882T>A" "" "" "" "FBXW7(NM_018315.4):c.1A>T (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994125" "0" "50" "4" "153332894" "153332894" "subst" "2.85058E-5" "01804" "FBXW7_000016" "g.153332894C>T" "" "" "" "FBXW7(NM_033632.3):c.62G>A (p.(Gly21Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994126" "0" "50" "4" "153332918" "153332918" "subst" "0" "01804" "FBXW7_000017" "g.153332918C>A" "" "" "" "FBXW7(NM_033632.3):c.38G>T (p.(Arg13Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024895" "0" "90" "4" "153244136" "153244136" "subst" "0" "02327" "FBXW7_000018" "g.153244136C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001034382" "0" "50" "4" "153249481" "153249481" "subst" "1.75744E-5" "01804" "FBXW7_000019" "g.153249481T>A" "" "" "" "FBXW7(NM_001349798.2):c.1297A>T (p.(Ile433Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051859" "0" "50" "4" "153271242" "153271242" "subst" "0" "01804" "FBXW7_000020" "g.153271242C>T" "" "" "" "FBXW7(NM_001349798.2):c.536G>A (p.(Arg179His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064265" "0" "70" "4" "153244137" "153244137" "subst" "0" "02325" "FBXW7_000021" "g.153244137G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001064266" "0" "30" "4" "153244137" "153244137" "subst" "0.000578105" "02325" "FBXW7_000009" "g.153244137G>T" "" "" "" "FBXW7(NM_033632.3):c.2020C>A (p.R674=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001064267" "0" "50" "4" "153247187" "153247187" "subst" "0" "02325" "FBXW7_000022" "g.153247187C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064268" "0" "30" "4" "153332496" "153332496" "subst" "5.73423E-5" "01804" "FBXW7_000023" "g.153332496C>T" "" "" "" "FBXW7(NM_001349798.2):c.460G>A (p.(Val154Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001064269" "0" "30" "4" "153332525" "153332525" "subst" "2.85272E-5" "02325" "FBXW7_000024" "g.153332525G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001064270" "0" "50" "4" "153332648" "153332648" "subst" "8.15807E-6" "02325" "FBXW7_000025" "g.153332648T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001068412" "0" "70" "4" "153250902" "153250904" "del" "0" "03779" "FBXW7_000027" "g.153250902_153250904del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001068413" "0" "90" "4" "153244092" "153244092" "subst" "0" "03779" "FBXW7_000002" "g.153244092G>A" "" "" "" "" "" "Unknown" "" "rs2126459661" "0" "" "" "" "" "pathogenic" "" "0001068414" "0" "90" "4" "153249393" "153249393" "subst" "0" "03779" "FBXW7_000026" "g.153249393G>T" "" "" "" "" "" "Unknown" "" "rs2126513281" "0" "" "" "" "" "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 FBXW7 ## Count = 72 "{{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}}" "0000343269" "00025447" "50" "2065" "0" "2065" "0" "c.2065C>T" "r.(?)" "p.(Arg689Trp)" "" "0000343269" "00007828" "50" "1711" "0" "1711" "0" "c.1711C>T" "r.(?)" "p.(Arg571Trp)" "" "0000343269" "00025830" "50" "2065" "0" "2065" "0" "c.2065C>T" "r.(?)" "p.(Arg689Trp)" "" "0000521834" "00025447" "30" "501" "29101" "501" "29101" "c.501+29101T>G" "r.(=)" "p.(=)" "" "0000521834" "00007828" "30" "134" "0" "134" "0" "c.134T>G" "r.(?)" "p.(Phe45Cys)" "" "0000521834" "00025830" "30" "501" "29101" "501" "29101" "c.501+29101T>G" "r.(=)" "p.(=)" "" "0000578134" "00025447" "70" "310" "0" "310" "0" "c.310del" "r.(?)" "p.(His104Metfs*65)" "" "0000578134" "00007828" "70" "-29159" "0" "-29159" "0" "c.-29159del" "r.(?)" "p.(?)" "" "0000719780" "00025447" "30" "502" "-2595" "502" "-2595" "c.502-2595G>A" "r.(=)" "p.(=)" "" "0000719780" "00007828" "30" "148" "-2595" "148" "-2595" "c.148-2595G>A" "r.(=)" "p.(=)" "" "0000719780" "00025830" "30" "502" "-2595" "502" "-2595" "c.502-2595G>A" "r.(=)" "p.(=)" "" "0000801535" "00025447" "70" "1236" "2" "1236" "2" "c.1236+2T>A" "r.spl?" "p.?" "" "0000801535" "00007828" "70" "882" "2" "882" "2" "c.882+2T>A" "r.spl?" "p.?" "" "0000801535" "00025830" "70" "1236" "2" "1236" "2" "c.1236+2T>A" "r.spl?" "p.?" "" "0000859262" "00025447" "50" "298" "0" "298" "0" "c.298G>T" "r.(?)" "p.(Glu100*)" "" "0000859262" "00007828" "50" "-29171" "0" "-29171" "0" "c.-29171G>T" "r.(?)" "p.(=)" "" "0000859262" "00025830" "50" "298" "0" "298" "0" "c.298G>T" "r.(?)" "p.(Glu100*)" "" "0000912071" "00025447" "30" "2020" "0" "2020" "0" "c.2020C>A" "r.(?)" "p.(Arg674=)" "" "0000912071" "00007828" "30" "1666" "0" "1666" "0" "c.1666C>A" "r.(?)" "p.(Arg556=)" "" "0000912071" "00025830" "30" "2020" "0" "2020" "0" "c.2020C>A" "r.(?)" "p.(Arg674=)" "" "0000922685" "00007828" "90" "1566" "0" "1566" "0" "c.1566C>A" "r.(?)" "p.(Ser522Arg)" "" "0000928873" "00025447" "50" "349" "0" "351" "0" "c.349_351del" "r.(?)" "p.(Glu117del)" "" "0000928873" "00007828" "50" "-29120" "0" "-29118" "0" "c.-29120_-29118del" "r.(?)" "p.(=)" "" "0000928873" "00025830" "50" "349" "0" "351" "0" "c.349_351del" "r.(?)" "p.(Glu117del)" "" "0000976147" "00025447" "30" "566" "0" "566" "0" "c.566A>G" "r.(?)" "p.(Lys189Arg)" "" "0000976147" "00007828" "30" "212" "0" "212" "0" "c.212A>G" "r.(?)" "p.(Lys71Arg)" "" "0000976147" "00025830" "30" "566" "0" "566" "0" "c.566A>G" "r.(?)" "p.(Lys189Arg)" "" "0000994122" "00025447" "50" "1922" "0" "1922" "0" "c.1922C>G" "r.(?)" "p.(Ser641*)" "" "0000994122" "00007828" "50" "1568" "0" "1568" "0" "c.1568C>G" "r.(?)" "p.(Ser523*)" "" "0000994122" "00025830" "50" "1922" "0" "1922" "0" "c.1922C>G" "r.(?)" "p.(Ser641*)" "" "0000994123" "00025447" "70" "1379" "0" "1379" "0" "c.1379A>G" "r.(?)" "p.(His460Arg)" "" "0000994123" "00007828" "70" "1025" "0" "1025" "0" "c.1025A>G" "r.(?)" "p.(His342Arg)" "" "0000994123" "00025830" "70" "1379" "0" "1379" "0" "c.1379A>G" "r.(?)" "p.(His460Arg)" "" "0000994124" "00025447" "30" "502" "-2606" "502" "-2606" "c.502-2606A>T" "r.(=)" "p.(=)" "" "0000994124" "00007828" "30" "148" "-2606" "148" "-2606" "c.148-2606A>T" "r.(=)" "p.(=)" "" "0000994124" "00025830" "30" "502" "-2606" "502" "-2606" "c.502-2606A>T" "r.(=)" "p.(=)" "" "0000994125" "00025447" "50" "62" "0" "62" "0" "c.62G>A" "r.(?)" "p.(Gly21Asp)" "" "0000994125" "00007828" "50" "-29407" "0" "-29407" "0" "c.-29407G>A" "r.(?)" "p.(=)" "" "0000994125" "00025830" "50" "62" "0" "62" "0" "c.62G>A" "r.(?)" "p.(Gly21Asp)" "" "0000994126" "00025447" "50" "38" "0" "38" "0" "c.38G>T" "r.(?)" "p.(Arg13Leu)" "" "0000994126" "00007828" "50" "-29431" "0" "-29431" "0" "c.-29431G>T" "r.(?)" "p.(=)" "" "0000994126" "00025830" "50" "38" "0" "38" "0" "c.38G>T" "r.(?)" "p.(Arg13Leu)" "" "0001024895" "00025447" "90" "2021" "0" "2021" "0" "c.2021G>C" "r.(?)" "p.(Arg674Pro)" "" "0001024895" "00007828" "90" "1667" "0" "1667" "0" "c.1667G>C" "r.(?)" "p.(Arg556Pro)" "" "0001024895" "00025830" "90" "2021" "0" "2021" "0" "c.2021G>C" "r.(?)" "p.(Arg674Pro)" "" "0001034382" "00025447" "50" "1297" "0" "1297" "0" "c.1297A>T" "r.(?)" "p.(Ile433Phe)" "" "0001034382" "00007828" "50" "943" "0" "943" "0" "c.943A>T" "r.(?)" "p.(Ile315Phe)" "" "0001034382" "00025830" "50" "1297" "0" "1297" "0" "c.1297A>T" "r.(?)" "p.(Ile433Phe)" "" "0001051859" "00025447" "50" "536" "0" "536" "0" "c.536G>A" "r.(?)" "p.(Arg179His)" "" "0001051859" "00007828" "50" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Arg61His)" "" "0001051859" "00025830" "50" "536" "0" "536" "0" "c.536G>A" "r.(?)" "p.(Arg179His)" "" "0001064265" "00025447" "70" "2020" "0" "2020" "0" "c.2020C>T" "r.(?)" "p.(Arg674Trp)" "" "0001064265" "00007828" "70" "1666" "0" "1666" "0" "c.1666C>T" "r.(?)" "p.(Arg556Trp)" "" "0001064265" "00025830" "70" "2020" "0" "2020" "0" "c.2020C>T" "r.(?)" "p.(Arg674Trp)" "" "0001064266" "00025447" "30" "2020" "0" "2020" "0" "c.2020C>A" "r.(?)" "p.(Arg674=)" "" "0001064266" "00007828" "30" "1666" "0" "1666" "0" "c.1666C>A" "r.(?)" "p.(Arg556=)" "" "0001064266" "00025830" "30" "2020" "0" "2020" "0" "c.2020C>A" "r.(?)" "p.(Arg674=)" "" "0001064267" "00025447" "50" "1615" "0" "1615" "0" "c.1615G>A" "r.(?)" "p.(Gly539Arg)" "" "0001064267" "00007828" "50" "1261" "0" "1261" "0" "c.1261G>A" "r.(?)" "p.(Gly421Arg)" "" "0001064267" "00025830" "50" "1615" "0" "1615" "0" "c.1615G>A" "r.(?)" "p.(Gly539Arg)" "" "0001064268" "00025447" "30" "460" "0" "460" "0" "c.460G>A" "r.(?)" "p.(Val154Ile)" "" "0001064268" "00007828" "30" "-29009" "0" "-29009" "0" "c.-29009G>A" "r.(?)" "p.(=)" "" "0001064268" "00025830" "30" "460" "0" "460" "0" "c.460G>A" "r.(?)" "p.(Val154Ile)" "" "0001064269" "00025447" "30" "431" "0" "431" "0" "c.431C>T" "r.(?)" "p.(Thr144Met)" "" "0001064269" "00007828" "30" "-29038" "0" "-29038" "0" "c.-29038C>T" "r.(?)" "p.(=)" "" "0001064269" "00025830" "30" "431" "0" "431" "0" "c.431C>T" "r.(?)" "p.(Thr144Met)" "" "0001064270" "00025447" "50" "308" "0" "308" "0" "c.308A>C" "r.(?)" "p.(Glu103Ala)" "" "0001064270" "00007828" "50" "-29161" "0" "-29161" "0" "c.-29161A>C" "r.(?)" "p.(=)" "" "0001064270" "00025830" "50" "308" "0" "308" "0" "c.308A>C" "r.(?)" "p.(Glu103Ala)" "" "0001068412" "00025830" "70" "1157" "0" "1159" "0" "c.1157_1159del" "r.(?)" "p.(Cys386del)" "" "0001068413" "00025830" "90" "2065" "0" "2065" "0" "c.2065C>T" "r.(?)" "p.(Arg689Trp)" "" "0001068414" "00025830" "90" "1385" "0" "1385" "0" "c.1385C>A" "r.(?)" "p.(Ser462Tyr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000249369" "0000578134" "0000436323" "0000922685"