### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DDX53) # 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}}" "DDX53" "DEAD (Asp-Glu-Ala-Asp) box polypeptide 53" "X" "p22.13" "unknown" "NC_000023.10" "UD_134408437486" "" "http://www.LOVD.nl/DDX53" "" "1" "20083" "168400" "301079" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/DDX53_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-03-06 00:00:00" "00006" "2025-01-04 13:17:36" "00000" "2025-02-07 18:57:27" ## 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}}" "00006249" "DDX53" "DEAD (Asp-Glu-Ala-Asp) box polypeptide 53" "001" "NM_182699.3" "" "NP_874358.2" "" "" "" "-97" "2032" "1896" "23018078" "23020206" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00173103" "" "" "" "2" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "Pat?" "00173104" "" "" "" "25" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "Pat?" "00173105" "" "" "" "25" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "Pat?" "00173106" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "Pat?" "00173107" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "Pat?" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00173103" "00187" "00173104" "00187" "00173105" "00187" "00173106" "00187" "00173107" "00187" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187 ## Count = 5 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000137967" "00187" "00173103" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137968" "00187" "00173104" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137969" "00187" "00173105" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137970" "00187" "00173106" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137971" "00187" "00173107" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000173986" "00173103" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000173987" "00173104" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000173988" "00173105" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000173989" "00173106" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173990" "00173107" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000173986" "FRMD7" "0000173987" "FRMD7" "0000173988" "FRMD7" "0000173989" "FRMD7" "0000173990" "FRMD7" ## 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 = 29 "{{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}}" "0000254907" "0" "30" "X" "23019035" "23019035" "subst" "5.74165E-6" "01943" "DDX53_000004" "g.23019035A>G" "" "" "" "DDX53(NM_182699.3):c.861A>G (p.Q287=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23000918A>G" "" "likely benign" "" "0000256431" "0" "50" "X" "22291839" "22291839" "subst" "2.80434E-5" "01943" "ZNF645_000005" "g.22291839A>G" "" "" "" "ZNF645(NM_152577.3):c.731A>G (p.Q244R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22273722A>G" "" "VUS" "" "0000256453" "0" "50" "X" "22291628" "22291628" "subst" "0" "01943" "ZNF645_000003" "g.22291628A>G" "" "" "" "ZNF645(NM_152577.3):c.520A>G (p.R174G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22273511A>G" "" "VUS" "" "0000270690" "0" "10" "X" "23018493" "23018493" "subst" "0.00206981" "02326" "DDX53_000001" "g.23018493G>T" "" "" "" "DDX53(NM_182699.3):c.319G>T (p.(Ala107Ser)), DDX53(NM_182699.4):c.319G>T (p.A107S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23000376G>T" "" "benign" "" "0000274926" "0" "30" "X" "23019368" "23019368" "subst" "0" "01943" "DDX53_000005" "g.23019368C>T" "" "" "" "DDX53(NM_182699.3):c.1194C>T (p.R398=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23001251C>T" "" "likely benign" "" "0000274927" "0" "50" "X" "23019931" "23019931" "subst" "1.11994E-5" "01943" "DDX53_000007" "g.23019931T>C" "" "" "" "DDX53(NM_182699.3):c.1757T>C (p.L586P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23001814T>C" "" "VUS" "" "0000333422" "0" "50" "X" "22291569" "22291569" "subst" "0.000649889" "01804" "ZNF645_000002" "g.22291569G>A" "" "" "" "ZNF645(NM_152577.3):c.461G>A (p.(Arg154His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22273452G>A" "" "VUS" "" "0000333423" "0" "50" "X" "22291647" "22291647" "subst" "0.000858013" "01804" "ZNF645_000004" "g.22291647T>A" "" "" "" "ZNF645(NM_152577.3):c.539T>A (p.(Ile180Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22273530T>A" "" "VUS" "" "0000333424" "0" "30" "X" "22291956" "22291956" "subst" "0.00021825" "01804" "ZNF645_000006" "g.22291956C>T" "" "" "" "ZNF645(NM_152577.3):c.848C>T (p.(Ala283Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22273839C>T" "" "likely benign" "" "0000333425" "0" "30" "X" "23018493" "23018493" "subst" "0.00206981" "01804" "DDX53_000001" "g.23018493G>T" "" "" "" "DDX53(NM_182699.3):c.319G>T (p.(Ala107Ser)), DDX53(NM_182699.4):c.319G>T (p.A107S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23000376G>T" "" "likely benign" "" "0000333427" "0" "30" "X" "23018664" "23018664" "subst" "0.00064156" "01804" "DDX53_000003" "g.23018664G>A" "" "" "" "DDX53(NM_182699.3):c.490G>A (p.(Glu164Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23000547G>A" "" "likely benign" "" "0000333428" "0" "50" "X" "23019580" "23019580" "subst" "0" "01804" "DDX53_000006" "g.23019580A>T" "" "" "" "DDX53(NM_182699.3):c.1406A>T (p.(Lys469Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23001463A>T" "" "VUS" "" "0000394303" "1" "30" "X" "23019248" "23019248" "subst" "0.020338" "00124" "DDX53_000008" "g.23019248C>T" "2/208 cases" "{PMID:Tarpey 2009:19377476}" "" "D358D" "recurrent, found 2 times" "Germline" "" "" "0" "" "" "g.23001131C>T" "" "likely benign" "" "0000394304" "1" "50" "X" "23019317" "23019317" "subst" "0.146519" "00124" "DDX53_000009" "g.23019317G>T" "25/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "recurrent, found 25 times" "Germline" "" "" "0" "" "" "g.23001200G>T" "" "VUS" "" "0000394305" "1" "50" "X" "23019346" "23019346" "subst" "0.194101" "00124" "DDX53_000010" "g.23019346G>T" "25/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "recurrent, found 25 times" "Germline" "" "" "0" "" "" "g.23001229G>T" "" "VUS" "" "0000394306" "1" "50" "X" "23018493" "23018493" "subst" "0.00206981" "00124" "DDX53_000001" "g.23018493G>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.23000376G>T" "" "VUS" "" "0000394307" "1" "50" "X" "23018664" "23018664" "subst" "0.00064156" "00124" "DDX53_000003" "g.23018664G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.23000547G>A" "" "VUS" "" "0000575303" "0" "30" "X" "22291554" "22291554" "subst" "6.72695E-5" "01943" "ZNF645_000011" "g.22291554C>T" "" "" "" "ZNF645(NM_152577.3):c.446C>T (p.S149L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22273437C>T" "" "likely benign" "" "0000575304" "0" "30" "X" "22291983" "22291983" "subst" "4.47678E-5" "01804" "ZNF645_000012" "g.22291983T>G" "" "" "" "ZNF645(NM_152577.3):c.875T>G (p.(Val292Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22273866T>G" "" "likely benign" "" "0000575307" "0" "50" "X" "23019241" "23019241" "subst" "0" "01943" "DDX53_000015" "g.23019241T>A" "" "" "" "DDX53(NM_182699.3):c.1067T>A (p.L356Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23001124T>A" "" "VUS" "" "0000575308" "0" "50" "X" "23019575" "23019575" "subst" "5.62332E-6" "01804" "DDX53_000016" "g.23019575C>G" "" "" "" "DDX53(NM_182699.3):c.1401C>G (p.(Asn467Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23001458C>G" "" "VUS" "" "0000575309" "0" "50" "X" "23020020" "23020020" "subst" "0" "01804" "DDX53_000017" "g.23020020C>T" "" "" "" "DDX53(NM_182699.3):c.1846C>T (p.(Arg616Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23001903C>T" "" "VUS" "" "0000619413" "0" "30" "X" "23018781" "23018781" "subst" "5.61599E-6" "01943" "DDX53_000018" "g.23018781A>G" "" "" "" "DDX53(NM_182699.3):c.607A>G (p.I203V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23000664A>G" "" "likely benign" "" "0000624561" "0" "50" "X" "23019375" "23019375" "subst" "5.62136E-6" "01943" "DDX53_000019" "g.23019375C>G" "" "" "" "DDX53(NM_182699.3):c.1201C>G (p.R401G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23001258C>G" "" "VUS" "" "0000693531" "0" "30" "X" "22291633" "22291633" "subst" "0" "01943" "ZNF645_000013" "g.22291633C>T" "" "" "" "CBLL2(NM_152577.3):c.525C>T (p.D175=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000728775" "0" "30" "X" "23018247" "23018247" "subst" "0" "01943" "DDX53_000021" "g.23018247A>G" "" "" "" "DDX53(NM_182699.3):c.73A>G (p.R25G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867278" "0" "50" "X" "22292316" "22292316" "subst" "1.11921E-5" "01943" "DDX53_000022" "g.22292316G>A" "" "" "" "CBLL2(NM_152577.3):c.1208G>A (p.R403Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951733" "0" "50" "X" "22292378" "22292378" "subst" "2.91717E-5" "02325" "DDX53_000023" "g.22292378C>T" "" "" "" "CBLL2(NM_152577.4):c.1270C>T (p.R424W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006655" "0" "30" "X" "23018283" "23018283" "subst" "0" "01804" "DDX53_000024" "g.23018283G>A" "" "" "" "DDX53(NM_182699.3):c.109G>A (p.(Gly37Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes DDX53 ## Count = 29 "{{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}}" "0000254907" "00006249" "30" "861" "0" "861" "0" "c.861A>G" "r.(?)" "p.(Gln287=)" "" "0000256431" "00006249" "50" "-726336" "0" "-726336" "0" "c.-726336A>G" "r.(?)" "p.(=)" "" "0000256453" "00006249" "50" "-726547" "0" "-726547" "0" "c.-726547A>G" "r.(?)" "p.(=)" "" "0000270690" "00006249" "10" "319" "0" "319" "0" "c.319G>T" "r.(?)" "p.(Ala107Ser)" "" "0000274926" "00006249" "30" "1194" "0" "1194" "0" "c.1194C>T" "r.(?)" "p.(Arg398=)" "" "0000274927" "00006249" "50" "1757" "0" "1757" "0" "c.1757T>C" "r.(?)" "p.(Leu586Pro)" "" "0000333422" "00006249" "50" "-726606" "0" "-726606" "0" "c.-726606G>A" "r.(?)" "p.(=)" "" "0000333423" "00006249" "50" "-726528" "0" "-726528" "0" "c.-726528T>A" "r.(?)" "p.(=)" "" "0000333424" "00006249" "30" "-726219" "0" "-726219" "0" "c.-726219C>T" "r.(?)" "p.(=)" "" "0000333425" "00006249" "30" "319" "0" "319" "0" "c.319G>T" "r.(?)" "p.(Ala107Ser)" "" "0000333427" "00006249" "30" "490" "0" "490" "0" "c.490G>A" "r.(?)" "p.(Glu164Lys)" "" "0000333428" "00006249" "50" "1406" "0" "1406" "0" "c.1406A>T" "r.(?)" "p.(Lys469Ile)" "" "0000394303" "00006249" "30" "1074" "0" "1074" "0" "c.1074C>T" "r.(=)" "p.(=)" "" "0000394304" "00006249" "50" "1143" "0" "1143" "0" "c.1143G>T" "r.(?)" "p.(Met381Ile)" "" "0000394305" "00006249" "50" "1172" "0" "1172" "0" "c.1172G>T" "r.(?)" "p.(Arg391Met)" "" "0000394306" "00006249" "50" "319" "0" "319" "0" "c.319G>T" "r.(?)" "p.(Ala107Ser)" "" "0000394307" "00006249" "50" "490" "0" "490" "0" "c.490G>A" "r.(?)" "p.(Glu164Lys)" "" "0000575303" "00006249" "30" "-726621" "0" "-726621" "0" "c.-726621C>T" "r.(?)" "p.(=)" "" "0000575304" "00006249" "30" "-726192" "0" "-726192" "0" "c.-726192T>G" "r.(?)" "p.(=)" "" "0000575307" "00006249" "50" "1067" "0" "1067" "0" "c.1067T>A" "r.(?)" "p.(Leu356Gln)" "" "0000575308" "00006249" "50" "1401" "0" "1401" "0" "c.1401C>G" "r.(?)" "p.(Asn467Lys)" "" "0000575309" "00006249" "50" "1846" "0" "1846" "0" "c.1846C>T" "r.(?)" "p.(Arg616Ter)" "" "0000619413" "00006249" "30" "607" "0" "607" "0" "c.607A>G" "r.(?)" "p.(Ile203Val)" "" "0000624561" "00006249" "50" "1201" "0" "1201" "0" "c.1201C>G" "r.(?)" "p.(Arg401Gly)" "" "0000693531" "00006249" "30" "-726542" "0" "-726542" "0" "c.-726542C>T" "r.(?)" "p.(=)" "" "0000728775" "00006249" "30" "73" "0" "73" "0" "c.73A>G" "r.(?)" "p.(Arg25Gly)" "" "0000867278" "00006249" "50" "-725859" "0" "-725859" "0" "c.-725859G>A" "r.(?)" "p.(=)" "" "0000951733" "00006249" "50" "-725797" "0" "-725797" "0" "c.-725797C>T" "r.(?)" "p.(=)" "" "0001006655" "00006249" "30" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Gly37Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000173986" "0000394303" "0000173987" "0000394304" "0000173988" "0000394305" "0000173989" "0000394306" "0000173990" "0000394307"