### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RFC4) # 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}}" "RFC4" "replication factor C (activator 1) 4, 37kDa" "3" "q27" "unknown" "NC_000003.11" "UD_136022484406" "" "https://www.LOVD.nl/DALRD3RFC4" "" "1" "9972" "5984" "102577" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/RFC4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-09-10 18:57:25" "00000" "2026-01-20 18:57:21" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00017654" "RFC4" "transcript variant 1" "002" "NM_002916.3" "" "NP_002907.1" "" "" "" "-223" "1169" "1092" "186524290" "186507681" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "07129" "MRMNS" "Morimoto-Ryu-Malicdan neuromuscular syndrome" "AR" "621010" "" "" "" "00006" "2024-11-23 09:33:40" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "RFC4" "07129" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00453573" "" "" "" "1" "" "00006" "{PMID:Morimoto 2024:39106866}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "" "" "49y" "0" "" "" "" "Pat1" "00453574" "" "" "" "1" "" "00006" "{PMID:Morimoto 2024:39106866}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "36y" "0" "" "" "" "Pat2" "00453575" "" "" "" "1" "" "00006" "{PMID:Morimoto 2024:39106866}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Guatemala" "" "0" "" "" "" "Pat3" "00453576" "" "" "" "1" "" "00006" "{PMID:Morimoto 2024:39106866}" "2-generation family, 1 affected, unaffected heterozygous carrier father" "M" "" "India" "00y07m" "0" "" "" "" "Pat4" "00453577" "" "" "" "1" "" "00006" "{PMID:Morimoto 2024:39106866}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "" "" "08y06m" "0" "" "" "Europe" "Pat5" "00453578" "" "" "" "1" "" "00006" "{PMID:Morimoto 2024:39106866}" "2-generation family, 1 affected, unaffected parents" "M" "" "Japan" "" "0" "" "" "" "Pat6" "00453579" "" "" "" "1" "" "00006" "{PMID:Morimoto 2024:39106866}" "2-generation family, 1 affected, unaffected parents" "F" "" "Japan" "" "0" "" "" "" "Pat7" "00453580" "" "" "" "2" "" "00006" "{PMID:Morimoto 2024:39106866}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "F" "" "" "7m" "0" "" "" "" "FamPat8" "00453581" "" "" "00453580" "1" "" "00006" "{PMID:Morimoto 2024:39106866}" "brother" "M" "" "" "8m" "0" "" "" "" "FamPat9" "00459423" "" "" "" "1" "" "04545" "Lauerova, submitted 2024" "" "M" "" "Ukraine" "" "" "" "" "white" "" "00459424" "" "" "" "1" "" "04545" "Lauerova, submitted 2024" "" "M" "" "Ukraine" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00453573" "00198" "00453574" "00198" "00453575" "00198" "00453576" "00198" "00453577" "00198" "00453578" "00198" "00453579" "00198" "00453580" "00198" "00453581" "00198" "00459423" "00244" "00459424" "00244" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00244, 07129 ## Count = 11 "{{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}}" "0000342231" "00198" "00453573" "00006" "Familial, autosomal recessive" "47y" "see paper; ..., onset mid-30s; no decreased body weight2.08 SD); no short stature (-1.68 SD); no microcephaly; no hearing impairmen; dyspnea; restrictive ventilatory defect; respiratory insufficiency due to muscle weakness; muscle weakness; myopathy; no hypotonia; diaphragm weakness; incoordination; gait disturbance; poor gross motor coordination; no delayd gross motor development; cerebellar ataxia; dysarthria; nystagmus; saccadic smooth pursuit; no intention tremor; peripheral neuropathy; cerebellar atrophy; cerebral atrophy" "" "" "" "" "" "" "" "" "MRMNS" "multisystemic disorder" "" "0000342232" "00198" "00453574" "00006" "Familial, autosomal recessive" "28y" "see paper; ..., onset childhood; decreased body weight (-8.05 SD); short stature (-2.34 SD); no microcephaly; bilateral sensorineural hearing impairment; no dyspnea; no restrictive ventilatory defect; no respiratory insufficiency due to muscle weakness; muscle weakness; myopathy; no hypotonia; no diaphragm weakness; incoordination; gait disturbance; poor gross motor coordination; no delayd gross motor development; cerebellar ataxia; dysarthria; no nystagmus; no saccadic smooth pursuit; no intention tremor; peripheral neuropathy; cerebellar atrophy; cerebral atrophy" "" "" "" "" "" "" "" "" "MRMNS" "multisystemic disorder" "" "0000342233" "00198" "00453575" "00006" "Familial, autosomal recessive" "3y" "see paper; ..., onset infancy; decreased body weight (-2.20 SD); no short stature (-0.38 SD); no microcephaly (-0.71 SD); hearing impairment; dyspnea; restrictive ventilatory defect; respiratory insufficiency due to muscle weakness; muscle weakness; myopathy; hypotonia; diaphragm weakness; incoordination; not achieved independent ambulation; poor gross motor coordination; delayed gross motor development; no cerebellar ataxia; dysarthria; no nystagmus; no saccadic smooth pursuit; no intention tremor; no cerebellar atrophy; no cerebral atrophy" "" "" "" "" "" "" "" "" "MRMNS" "multisystemic disorder" "" "0000342234" "00198" "00453576" "00006" "Familial, autosomal recessive" "7m" "see paper; ..., onset neonatal; decreased body weight (-5.80 SD); no short stature (-1.91 SD); microcephaly (-2.51 SD); bilateral sensorineural hearing impairment; no dyspnea; muscle weakness; myopathy; hypotonia; diaphragm weakness; incoordination; poor gross motor coordination; delayed gross motor development; no cerebellar ataxia; no nystagmus; no saccadic smooth pursuit; no intention tremor; no cerebellar atrophy; no cerebral atrophy" "" "" "" "" "" "" "" "" "MRMNS" "multisystemic disorder" "" "0000342235" "00198" "00453577" "00006" "Familial, autosomal recessive" "7y10m" "see paper; ..., onset infancy; decreased body weight (-3.23 SD); short stature (-3.10 SD); microcephaly; bilateral sensorineural hearing impairment; no dyspnea; no restrictive ventilatory defect; no respiratory insufficiency due to muscle weakness; muscle weakness; hypotonia; no diaphragm weakness; incoordination; not achieved independent ambulation; delayed gross motor development; cerebellar ataxia; dysarthria; no nystagmus; no saccadic smooth pursuit; intention tremor; cerebellar atrophy; no cerebral atrophy" "" "" "" "" "" "" "" "" "MRMNS" "multisystemic disorder" "" "0000342236" "00198" "00453578" "00006" "Familial, autosomal recessive" "21y" "see paper; ..., onset childhood; decreased body weight (-2.87 SD); no short stature (-1.37 SD); no hearing impairmen; dyspnea; restrictive ventilatory defect; respiratory insufficiency due to muscle weakness; muscle weakness; myopathy; no hypotonia; no diaphragm weakness; incoordination; gait disturbance; no poor gross motor coordination; no delayd gross motor development; cerebellar ataxia; dysarthria; no nystagmus; no saccadic smooth pursuit; no intention tremor; peripheral neuropathy; cerebellar atrophy; no cerebral atrophy" "" "" "" "" "" "" "" "" "MRMNS" "multisystemic disorder" "" "0000342237" "00198" "00453579" "00006" "Familial, autosomal recessive" "2y" "see paper; ..., onset infancy; decreased body weight (-6.22 SD); short stature (-2.64 SD); no microcephaly (-0.69 SD); no hearing impairmen; no dyspnea; no restrictive ventilatory defect; respiratory insufficiency due to muscle weakness; muscle weakness; myopathy; hypotonia; no diaphragm weakness; incoordination; not achieved independent ambulation; poor gross motor coordination; delayed gross motor development; no cerebellar ataxia; no nystagmus; no saccadic smooth pursuit; no intention tremor; no cerebellar atrophy; no cerebral atrophy" "" "" "" "" "" "" "" "" "MRMNS" "multisystemic disorder" "" "0000342238" "00198" "00453580" "00006" "Familial, autosomal recessive" "6m" "see paper; ..., onset neonatal; decreased body weight (-4.51 SD); short stature (-2.39 SD); microcephaly (-3.84 SD); bilateral sensorineural hearing impairment; respiratory insufficiency due to muscle weakness; muscle weakness; myopathy; hypotonia; diaphragm weakness; poor coordination when fatigued; poor gross motor coordination; delayed gross motor development; no cerebellar ataxia; no nystagmus; no saccadic smooth pursuit; no intention tremor; no cerebellar atrophy; no cerebral atrophy" "" "" "" "" "" "" "" "" "MRMNS" "multisystemic disorder" "" "0000342239" "00198" "00453581" "00006" "Familial, autosomal recessive" "6m" "see paper; ..., onset neonatal; decreased body weight (-2.83 SD); short stature (-2.39 SD); microcephaly (-2.37 SD); bilateral sensorineural hearing impairment; respiratory insufficiency due to muscle weakness; muscle weakness; myopathy; hypotonia; diaphragm weakness; no incoordination; no poor gross motor coordination; delayed gross motor development; no cerebellar ataxia; no nystagmus; no saccadic smooth pursuit; no intention tremor; no cerebellar atrophy; no cerebral atrophy" "" "" "" "" "" "" "" "" "MRMNS" "multisystemic disorder" "" "0000347499" "00244" "00459423" "04545" "Familial, autosomal recessive" "7" "rapidly progressive congenital myopathy characterized by severe hypotonia and axial muscle weakness" "00y" "8" "delay of psychomotor development" "" "" "" "" "" "" "" "" "0000347500" "00244" "00459424" "04545" "Familial, autosomal recessive" "2" "rapidly progressive congenital myopathy characterized by severe hypotonia and axial muscle weakness" "00y" "3" "hypotonia" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000455187" "00453573" "1" "00006" "00006" "2024-09-10 19:59:05" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "trio WES" "0000455188" "00453574" "1" "00006" "00006" "2024-09-10 19:59:05" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "trio WES" "0000455189" "00453575" "1" "00006" "00006" "2024-09-10 19:59:05" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000455190" "00453576" "1" "00006" "00006" "2024-09-10 19:59:05" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000455191" "00453577" "1" "00006" "00006" "2024-09-10 19:59:05" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000455192" "00453578" "1" "00006" "00006" "2024-09-10 19:59:05" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000455193" "00453579" "1" "00006" "00006" "2024-09-10 19:59:05" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000455194" "00453580" "1" "00006" "00006" "2024-09-10 19:59:05" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000455195" "00453581" "1" "00006" "00006" "2024-09-10 19:59:05" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000461048" "00459423" "1" "04545" "04545" "2024-12-27 19:00:36" "" "" "SEQ-NG" "DNA" "" "" "0000461049" "00459424" "1" "04545" "04545" "2024-12-27 19:09:10" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000461048" "RFC4" "0000461049" "RFC4" ## 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 = 30 "{{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}}" "0000349383" "0" "50" "3" "186504391" "186504391" "subst" "0" "02327" "EIF4A2_000001" "g.186504391C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.186786602C>T" "" "VUS" "" "0000688994" "0" "50" "3" "186507009" "186507009" "subst" "0" "01943" "EIF4A2_000002" "g.186507009A>C" "" "" "" "EIF4A2(NM_001967.4):c.1175A>C (p.Y392S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000962574" "0" "50" "3" "186504967" "186504967" "subst" "0" "02327" "EIF4A2_000017" "g.186504967C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975702" "0" "50" "3" "186502386" "186502386" "subst" "0" "01804" "EIF4A2_000018" "g.186502386G>T" "" "" "" "EIF4A2(NM_001967.4):c.109G>T (p.(Asp37Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993488" "0" "50" "3" "186509567" "186509567" "subst" "4.06184E-6" "01804" "RFC4_000001" "g.186509567G>A" "" "" "" "RFC4(NM_002916.3):c.748C>T (p.(Arg250*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001007207" "11" "70" "3" "186507820" "186507820" "subst" "0" "00006" "RFC4_000003" "g.186507820C>T" "" "{PMID:Morimoto 2024:39106866}" "" "" "" "Germline" "" "" "0" "" "" "g.186790031C>T" "" "likely pathogenic (recessive)" "" "0001007208" "11" "70" "3" "186507946" "186507948" "dup" "0" "00006" "RFC4_000005" "g.186507946_186507948dup" "" "{PMID:Morimoto 2024:39106866}" "" "" "" "Germline" "" "" "0" "" "" "g.186790157_186790159dup" "" "likely pathogenic (recessive)" "" "0001007209" "3" "70" "3" "186508156" "186508156" "subst" "4.06194E-6" "00006" "RFC4_000008" "g.186508156A>G" "" "{PMID:Morimoto 2024:39106866}" "" "" "" "Germline" "" "" "0" "" "" "g.186790367A>G" "" "likely pathogenic (recessive)" "" "0001007210" "11" "70" "3" "186507787" "186507788" "del" "0" "00006" "RFC4_000002" "g.186507787_186507788del" "" "{PMID:Morimoto 2024:39106866}" "" "" "" "Germline" "" "" "0" "" "" "g.186789998_186789999del" "" "likely pathogenic (recessive)" "" "0001007211" "11" "70" "3" "186508173" "186508175" "del" "0" "00006" "RFC4_000009" "g.186508173_186508175del" "" "{PMID:Morimoto 2024:39106866}" "" "" "" "Germline" "" "" "0" "" "" "g.186790384_186790386del" "" "likely pathogenic (recessive)" "" "0001007212" "1" "70" "3" "186509531" "186509531" "del" "4.06164E-6" "00006" "RFC4_000010" "g.186509531del" "" "{PMID:Morimoto 2024:39106866}" "" "" "" "Germline" "" "" "0" "" "" "g.186791742del" "" "likely pathogenic (recessive)" "" "0001007213" "3" "70" "3" "186508173" "186508175" "del" "0" "00006" "RFC4_000009" "g.186508173_186508175del" "" "{PMID:Morimoto 2024:39106866}" "" "" "" "Germline" "" "" "0" "" "" "g.186790384_186790386del" "" "likely pathogenic (recessive)" "" "0001007214" "11" "70" "3" "186507787" "186507788" "del" "0" "00006" "RFC4_000002" "g.186507787_186507788del" "" "{PMID:Morimoto 2024:39106866}" "" "" "" "Germline" "yes" "" "0" "" "" "g.186789998_186789999del" "" "likely pathogenic (recessive)" "" "0001007215" "11" "70" "3" "186507787" "186507788" "del" "0" "00006" "RFC4_000002" "g.186507787_186507788del" "" "{PMID:Morimoto 2024:39106866}" "" "" "" "Germline" "yes" "" "0" "" "" "g.186789998_186789999del" "" "likely pathogenic (recessive)" "" "0001007216" "21" "70" "3" "186507929" "186507929" "dup" "0" "00006" "RFC4_000004" "g.186507929dup" "" "{PMID:Morimoto 2024:39106866}" "" "" "" "Germline" "" "" "0" "" "" "g.186790140dup" "" "likely pathogenic (recessive)" "" "0001007217" "21" "70" "3" "186515319" "186515319" "subst" "0" "00006" "RFC4_000011" "g.186515319C>A" "" "{PMID:Morimoto 2024:39106866}" "" "" "" "Germline" "" "" "0" "" "" "g.186797530C>A" "" "likely pathogenic (recessive)" "" "0001007218" "20" "70" "3" "186507977" "186507980" "del" "0" "00006" "RFC4_000006" "g.186507977_186507980del" "" "{PMID:Morimoto 2024:39106866}" "" "" "" "De novo" "" "" "0" "" "" "g.186790188_186790191del" "" "likely pathogenic (recessive)" "" "0001007219" "21" "70" "3" "186507929" "186507929" "dup" "0" "00006" "RFC4_000004" "g.186507929dup" "" "{PMID:Morimoto 2024:39106866}" "" "" "" "Germline" "" "" "0" "" "" "g.186790140dup" "" "likely pathogenic (recessive)" "" "0001007220" "2" "70" "3" "186508021" "186508023" "del" "0" "00006" "RFC4_000007" "g.186508021_186508023del" "" "{PMID:Morimoto 2024:39106866}" "" "" "" "Germline" "" "" "0" "" "" "g.186790232_186790234del" "" "likely pathogenic (recessive)" "" "0001007221" "21" "70" "3" "186507929" "186507929" "dup" "0" "00006" "RFC4_000004" "g.186507929dup" "" "{PMID:Morimoto 2024:39106866}" "" "" "" "Germline" "yes" "" "0" "" "" "g.186790140dup" "" "likely pathogenic (recessive)" "" "0001007222" "21" "70" "3" "186507929" "186507929" "dup" "0" "00006" "RFC4_000004" "g.186507929dup" "" "{PMID:Morimoto 2024:39106866}" "" "" "" "Germline" "yes" "" "0" "" "" "g.186790140dup" "" "likely pathogenic (recessive)" "" "0001020137" "11" "90" "3" "186507831" "186507832" "ins" "0" "04545" "RFC4_000012" "g.186507831_186507832insTTGT" "" "Lauerova, submitted 2024" "" "" "" "Germline" "yes" "" "0" "" "" "g.186790042_186790043insTTGT" "" "pathogenic (recessive)" "" "0001020138" "21" "90" "3" "186507944" "186507945" "ins" "0" "04545" "RFC4_000013" "g.186507944_186507945insAGT" "" "Lauerova, submitted 2024" "" "" "" "Germline" "yes" "" "0" "" "" "g.186790155_186790156insAGT" "" "pathogenic (recessive)" "" "0001020139" "11" "90" "3" "186507831" "186507832" "ins" "0" "04545" "RFC4_000012" "g.186507831_186507832insTTGT" "" "Lauerova, submitted 2024" "" "" "" "Germline" "yes" "" "0" "" "" "g.186790042_186790043insTTGT" "" "pathogenic (recessive)" "" "0001020140" "21" "90" "3" "186507944" "186507945" "ins" "0" "04545" "RFC4_000013" "g.186507944_186507945insAGT" "" "Lauerova, submitted 2024" "" "" "" "Germline" "" "" "0" "" "" "g.186790155_186790156insAGT" "" "pathogenic (recessive)" "" "0001033850" "0" "30" "3" "186504439" "186504439" "subst" "0.00101988" "01804" "EIF4A2_000019" "g.186504439C>T" "" "" "" "EIF4A2(NM_001967.4):c.771+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033851" "0" "30" "3" "186504908" "186504908" "subst" "0.0021469" "01804" "EIF4A2_000020" "g.186504908C>T" "" "" "" "EIF4A2(NM_001967.4):c.772-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001064133" "0" "50" "3" "186502831" "186502831" "subst" "1.62463E-5" "02325" "EIF4A2_000021" "g.186502831A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064134" "0" "70" "3" "186504406" "186504409" "del" "0" "02325" "EIF4A2_000022" "g.186504406_186504409del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001064135" "0" "90" "3" "186504933" "186504934" "del" "0" "02325" "EIF4A2_000023" "g.186504933_186504934del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 RFC4 ## Count = 30 "{{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}}" "0000349383" "00017654" "50" "4459" "0" "4459" "0" "c.*3367G>A" "r.(=)" "p.(=)" "" "0000688994" "00017654" "50" "1841" "0" "1841" "0" "c.*749T>G" "r.(=)" "p.(=)" "" "0000962574" "00017654" "50" "3883" "0" "3883" "0" "c.*2791G>C" "r.(=)" "p.(=)" "" "0000975702" "00017654" "50" "6464" "0" "6464" "0" "c.*5372C>A" "r.(=)" "p.(=)" "" "0000993488" "00017654" "50" "748" "0" "748" "0" "c.748C>T" "r.(?)" "p.(Arg250*)" "" "0001007207" "00017654" "70" "1030" "0" "1030" "0" "c.1030G>A" "r.(?)" "p.(Glu344Lys)" "" "0001007208" "00017654" "70" "980" "0" "982" "0" "c.980_982dup" "r.(?)" "p.(Ile327dup)" "" "0001007209" "00017654" "70" "841" "0" "841" "0" "c.841T>C" "r.(?)" "p.(Cys281Arg)" "" "0001007210" "00017654" "70" "1064" "0" "1065" "0" "c.1064_1065del" "r.(?)" "p.(Val355AspfsTer11)" "" "0001007211" "00017654" "70" "824" "0" "826" "0" "c.824_826del" "r.(?)" "p.(Asp275del)" "" "0001007212" "00017654" "70" "784" "0" "784" "0" "c.784del" "r.(?)" "p.(Ile262LeufsTer7)" "" "0001007213" "00017654" "70" "824" "0" "826" "0" "c.824_826del" "r.(?)" "p.(Asp275del)" "" "0001007214" "00017654" "70" "1064" "0" "1065" "0" "c.1064_1065del" "r.(?)" "p.(Val355AspfsTer11)" "" "0001007215" "00017654" "70" "1064" "0" "1065" "0" "c.1064_1065del" "r.(?)" "p.(Val355AspfsTer11)" "" "0001007216" "00017654" "70" "996" "2" "996" "2" "c.996+2dup" "r.[802_882del,883_996del,802_996del]" "p.[Val268_Lys294del,Asp295_Ala332del,Val268_Ala332del]" "10i" "0001007217" "00017654" "70" "290" "5" "290" "5" "c.290+5G>T" "r.211_290del" "p.Leu71AlafsTer2" "4i" "0001007218" "00017654" "70" "947" "0" "950" "0" "c.947_950del" "r.(?)" "p.(Glu316ValfsTer22)" "" "0001007219" "00017654" "70" "996" "2" "996" "2" "c.996+2dup" "r.[(802_882del,883_996del,802_996del)]" "p.[(Val268_Lys294del,Asp295_Ala332del,Val268_Ala332del)]" "10i" "0001007220" "00017654" "70" "907" "0" "909" "0" "c.907_909del" "r.(?)" "p.(Ala303del)" "" "0001007221" "00017654" "70" "996" "2" "996" "2" "c.996+2dup" "r.[(802_882del,883_996del,802_996del)]" "p.[(Val268_Lys294del,Asp295_Ala332del,Val268_Ala332del)]" "10i" "0001007222" "00017654" "70" "996" "2" "996" "2" "c.996+2dup" "r.[(802_882del,883_996del,802_996del)]" "p.[(Val268_Lys294del,Asp295_Ala332del,Val268_Ala332del)]" "10i" "0001020137" "00017654" "90" "1019" "0" "1020" "0" "c.1019_1020insCAAA" "r.(?)" "p.(Gly341Lysfs*4)" "" "0001020138" "00017654" "90" "982" "0" "983" "0" "c.982_983insACT" "r.(?)" "p.(Thr328delinsAsnSer)" "" "0001020139" "00017654" "90" "1019" "0" "1020" "0" "c.1019_1020insCAAA" "r.(?)" "p.(Gly341Lysfs*4)" "" "0001020140" "00017654" "90" "982" "0" "983" "0" "c.982_983insACT" "r.(?)" "p.(Thr328delinsAsnSer)" "" "0001033850" "00017654" "30" "4411" "0" "4411" "0" "c.*3319G>A" "r.(=)" "p.(=)" "" "0001033851" "00017654" "30" "3942" "0" "3942" "0" "c.*2850G>A" "r.(=)" "p.(=)" "" "0001064133" "00017654" "50" "6019" "0" "6019" "0" "c.*4927T>C" "r.(=)" "p.(=)" "" "0001064134" "00017654" "70" "4443" "0" "4446" "0" "c.*3351_*3354del" "r.(=)" "p.(=)" "" "0001064135" "00017654" "90" "3918" "0" "3919" "0" "c.*2826_*2827del" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{variantid}}" "0000455187" "0001007207" "0000455187" "0001007216" "0000455188" "0001007208" "0000455188" "0001007217" "0000455189" "0001007209" "0000455190" "0001007210" "0000455190" "0001007218" "0000455191" "0001007211" "0000455191" "0001007219" "0000455192" "0001007212" "0000455192" "0001007220" "0000455193" "0001007213" "0000455194" "0001007214" "0000455194" "0001007221" "0000455195" "0001007215" "0000455195" "0001007222" "0000461048" "0001020137" "0000461048" "0001020138" "0000461049" "0001020139" "0000461049" "0001020140"