### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PBX1) # 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}}" "PBX1" "pre-B-cell leukemia homeobox 1" "1" "q23.3" "unknown" "NG_028246.2" "UD_132084415417" "" "https://www.LOVD.nl/PBX1" "" "1" "8632" "5087" "176310" "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/PBX1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-10-25 12:17:14" "00000" "2025-05-05 21:14:00" ## 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}}" "00015717" "PBX1" "transcript variant 1" "001" "NM_002585.3" "" "NP_002576.1" "" "" "" "-463" "6447" "1293" "164528597" "164821067" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04607" "CAKUTHED" "anomalies, congenital, kidney and urinary tract syndrome with/without hearing loss, abnormal ears, or developmental delay (CAKUTHED)" "" "176310" "" "autosomal dominant" "" "00000" "2015-09-23 10:25:23" "00006" "2019-01-21 13:18:35" "05340" "SRXY" "46,XY sex reversal (SRXY)" "" "" "" "" "" "00006" "2017-11-05 11:48:12" "" "" "05342" "CAKUT" "kidney and urinary tract, anomalies, congenital (CAKUT)" "" "" "" "" "" "00006" "2017-11-10 19:49:59" "00006" "2017-11-10 19:51:20" "06021" "CAKUTHED" "Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay" "AD" "617641" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PBX1" "04607" "PBX1" "06021" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00217302" "" "" "" "1" "" "03177" "" "" "rF" "-" "" "" "0" "" "" "" "" "00316100" "" "" "" "2" "" "00006" "{PMID:Heidet 2017:28566479}" "affected patient and 1st degree relative" "" "" "France" "" "0" "" "" "" "K136" "00316122" "" "" "" "1" "" "00006" "{PMID:Heidet 2017:28566479}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "France" "" "0" "" "" "" "K175" "00316124" "" "" "" "1" "" "00006" "{PMID:Heidet 2017:28566479}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "France" "" "0" "" "" "" "K179" "00316126" "" "" "" "1" "" "00006" "{PMID:Heidet 2017:28566479}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "France" "" "0" "" "" "" "K181" "00316131" "" "" "" "1" "" "00006" "{PMID:Heidet 2017:28566479}" "2-generation family, affected fetus, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "K186" "00433666" "" "" "" "1" "" "03544" "" "" "" "" "" "" "" "" "" "" "" "00451676" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00217302" "05340" "00316100" "05342" "00316122" "05342" "00316124" "05342" "00316126" "05342" "00316131" "05342" "00433666" "06021" "00451676" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04607, 05340, 05342, 06021 ## Count = 8 "{{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}}" "0000166517" "05340" "00217302" "03177" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "sex reversal" "" "0000239847" "05342" "00316100" "00006" "Unknown" "" "renal dysplasia; unilateral kidney agenesis; dysmorphic features, intellectual disability, microcephaly" "" "" "" "" "" "" "" "" "" "unilateral kidney agenesis" "" "0000239869" "05342" "00316122" "00006" "Unknown" "" "renal hypoplasia; deafness, scoliosis" "" "" "" "" "" "" "" "" "" "renal hypoplasia" "" "0000239871" "05342" "00316124" "00006" "Unknown" "" "renal hypoplasia; renal dysplasia; cysts; dysmorphic features, intellectual disability" "" "" "" "" "" "" "" "" "" "renal hypoplasia" "" "0000239873" "05342" "00316126" "00006" "Unknown" "" "renal hypoplasia; renal dysplasia; renal ectopy; deafness" "" "" "" "" "" "" "" "" "" "renal hypoplasia" "" "0000239878" "05342" "00316131" "00006" "Unknown" "" "renal hypoplasia" "" "" "" "" "" "" "" "" "" "renal hypoplasia" "" "0000324089" "06021" "00433666" "03544" "Familial, autosomal dominant" "" "intellectual disability, autism, outer ear abnormality" "" "" "" "" "" "" "" "" "" "" "" "0000340337" "00198" "00451676" "03544" "Isolated (sporadic)" "" "HP:0000256, HP:0001510, HP:0031878, HP:0011913, HP:0002857, HP:0001763, HP:0000357, HP:0000358, HP:0000377, HP:0000664, HP:0000490, HP:0006483, HP:0001800, HP:0011342, HP:0002015, HP:0008915, HP:0000750, HP:0000545, HP:0000483" "" "" "" "" "" "" "" "" "CAKUTHED" "developmental delay" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000218372" "00217302" "1" "03177" "03177" "2019-01-16 12:37:31" "" "" "SEQ" "DNA" "blood" "" "0000317282" "00316100" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000317304" "00316122" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000317306" "00316124" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000317308" "00316126" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000317313" "00316131" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000435124" "00433666" "1" "03544" "03544" "2023-03-12 20:36:24" "" "" "SEQ-NG-I" "DNA" "" "" "0000453280" "00451676" "1" "03544" "03544" "2024-06-28 08:21:56" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000218372" "PBX1" "0000317282" "PBX1" "0000317304" "HOXD11" "0000317304" "PBX1" "0000317306" "PBX1" "0000317308" "PBX1" "0000317313" "PBX1" ## 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 = 26 "{{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}}" "0000339022" "0" "50" "1" "164781251" "164781251" "subst" "0" "02327" "PBX1_000001" "g.164781251C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.164812014C>T" "" "VUS" "" "0000453016" "0" "90" "1" "164776781" "164776781" "subst" "0" "03177" "PBX1_000002" "g.164776781G>T" "" "" "" "" "de novo mutation" "De novo" "" "" "0" "" "" "g.164807544G>T" "" "pathogenic" "" "0000504088" "0" "70" "1" "164761818" "164761819" "del" "0" "01943" "PBX1_000003" "g.164761818_164761819del" "" "" "" "PBX1(NM_002585.3):c.353_354delCG (p.A118Gfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.164792581_164792582del" "" "likely pathogenic" "" "0000504089" "0" "30" "1" "164769118" "164769118" "subst" "0" "01943" "PBX1_000004" "g.164769118G>C" "" "" "" "PBX1(NM_002585.3):c.693G>C (p.L231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.164799881G>C" "" "likely benign" "" "0000653802" "0" "50" "1" "164776864" "164776864" "subst" "0" "02327" "PBX1_000005" "g.164776864G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.164807627G>A" "" "VUS" "" "0000687936" "0" "30" "1" "164768959" "164768959" "subst" "3.65845E-5" "01943" "PBX1_000006" "g.164768959C>T" "" "" "" "PBX1(NM_002585.3):c.534C>T (p.H178=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000699806" "0" "90" "1" "164529030" "164816133" "del" "0" "00006" "NPHS2_000000" "g.(?_164529030)_(164816133_?)del" "" "{PMID:Heidet 2017:28566479}" "" "" "" "De novo" "" "" "0" "" "" "g.(?_164559793)_(164846896_?)del" "" "pathogenic" "" "0000699828" "0" "90" "1" "164761893" "164761893" "del" "0" "00006" "PBX1_000007" "g.164761893del" "" "{PMID:Heidet 2017:28566479}" "" "428delA" "" "De novo" "" "" "0" "" "" "g.164792656del" "" "pathogenic" "" "0000699830" "0" "70" "1" "164768975" "164768975" "subst" "0" "00006" "PBX1_000008" "g.164768975C>T" "" "{PMID:Heidet 2017:28566479}" "" "" "" "De novo" "" "" "0" "" "" "g.164799738C>T" "" "VUS" "" "0000699832" "0" "90" "1" "164529030" "164816133" "del" "0" "00006" "NPHS2_000000" "g.(?_164529030)_(164816133_?)del" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "g.(?_164559793)_(164846896_?)del" "" "pathogenic" "" "0000699837" "0" "90" "1" "164768934" "164768934" "subst" "0" "00006" "PBX1_000009" "g.164768934A>G" "" "{PMID:Heidet 2017:28566479}" "" "" "" "De novo" "" "" "0" "" "" "g.164799697A>G" "" "pathogenic" "" "0000716966" "0" "30" "1" "164768917" "164768917" "subst" "4.1179E-5" "02326" "PBX1_000010" "g.164768917G>T" "" "" "" "PBX1(NM_002585.3):c.511-19G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716967" "0" "30" "1" "164776848" "164776848" "subst" "0" "02325" "PBX1_000011" "g.164776848C>T" "" "" "" "PBX1(NM_002585.4):c.771C>T (p.S257=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848374" "0" "30" "1" "164761879" "164761879" "subst" "0" "01943" "PBX1_000013" "g.164761879G>C" "" "" "" "PBX1(NM_002585.3):c.414G>C (p.G138=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848375" "0" "50" "1" "164789319" "164789319" "subst" "0" "01943" "PBX1_000014" "g.164789319T>G" "" "" "" "PBX1(NM_002585.3):c.1008T>G (p.S336R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857124" "0" "30" "1" "164532475" "164532475" "subst" "0.00010226" "02326" "PBX1_000012" "g.164532475A>G" "" "" "" "PBX1(NM_002585.3):c.192A>G (p.R64=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882902" "0" "30" "1" "164532463" "164532463" "dup" "0" "02326" "PBX1_000015" "g.164532463dup" "" "" "" "PBX1(NM_002585.3):c.192-12dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882905" "0" "30" "1" "164769139" "164769139" "subst" "0.00362753" "02326" "PBX1_000016" "g.164769139T>G" "" "" "" "PBX1(NM_002585.3):c.701+13T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000921062" "21" "90" "1" "164769074" "164769074" "subst" "0" "03544" "PBX1_000017" "g.164769074C>T" "" "" "" "" "inherited from mother with childhood-limited intellectual impairment, outer ear abnormality (persistent)" "Germline" "yes" "" "0" "" "" "g.164799837C>T" "" "pathogenic (maternal)" "ACMG" "0000922998" "0" "50" "1" "164790786" "164790786" "subst" "0" "02325" "PBX1_000018" "g.164790786C>T" "" "" "" "PBX1(NM_002585.4):c.1123C>T (p.R375C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973447" "0" "50" "1" "164789357" "164789357" "subst" "0" "01804" "PBX1_000019" "g.164789357G>A" "" "" "" "PBX1(NM_002585.4):c.1046G>A (p.(Ser349Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000987858" "0" "70" "1" "164529251" "164529251" "subst" "0" "03544" "PBX1_000020" "g.164529251G>A" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.164560014G>A" "{CV:3374741}" "likely pathogenic" "ACMG" "0000990530" "0" "50" "1" "164761858" "164761866" "dup" "0" "02325" "PBX1_000021" "g.164761858_164761866dup" "" "" "" "PBX1(NM_002585.4):c.393_401dupAGCGGCGGC (p.A133_A135dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990531" "0" "50" "1" "164769126" "164769126" "subst" "0" "01804" "PBX1_000022" "g.164769126G>T" "" "" "" "PBX1(NM_001204961.1):c.701G>T (p.(Arg234Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024059" "0" "50" "1" "164776835" "164776835" "subst" "0" "02329" "PBX1_000023" "g.164776835A>G" "" "" "" "PBX1(NM_002585.4):c.758A>G (p.Y253C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031447" "0" "30" "1" "164761983" "164761983" "subst" "0" "01804" "PBX1_000024" "g.164761983G>T" "" "" "" "PBX1(NM_002585.4):c.510+8G>T" "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 PBX1 ## Count = 26 "{{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}}" "0000339022" "00015717" "50" "862" "0" "862" "0" "c.862C>T" "r.(?)" "p.(Arg288Ter)" "" "0000453016" "00015717" "90" "704" "0" "704" "0" "c.704G>T" "r.(?)" "p.(Arg235Leu)" "" "0000504088" "00015717" "70" "353" "0" "354" "0" "c.353_354del" "r.(?)" "p.(Ala118GlyfsTer3)" "" "0000504089" "00015717" "30" "693" "0" "693" "0" "c.693G>C" "r.(?)" "p.(Leu231=)" "" "0000653802" "00015717" "50" "787" "0" "787" "0" "c.787G>A" "r.(?)" "p.(Glu263Lys)" "" "0000687936" "00015717" "30" "534" "0" "534" "0" "c.534C>T" "r.(?)" "p.(His178=)" "" "0000699806" "00015717" "90" "-30" "0" "1513" "0" "c.(?_-30)_(*220_?)del" "r.0?" "p.0?" "" "0000699828" "00015717" "90" "428" "0" "428" "0" "c.428del" "r.(?)" "p.(Asn143Thrfs*37)" "" "0000699830" "00015717" "70" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Arg184*)" "" "0000699832" "00015717" "90" "-30" "0" "1513" "0" "c.(?_-30)_(*220_?)del" "r.0?" "p.0?" "" "0000699837" "00015717" "90" "511" "-2" "511" "-2" "c.511-2A>G" "r.spl" "p.?" "" "0000716966" "00015717" "30" "511" "-19" "511" "-19" "c.511-19G>T" "r.(=)" "p.(=)" "" "0000716967" "00015717" "30" "771" "0" "771" "0" "c.771C>T" "r.(?)" "p.(Ser257=)" "" "0000848374" "00015717" "30" "414" "0" "414" "0" "c.414G>C" "r.(?)" "p.(Gly138=)" "" "0000848375" "00015717" "50" "1008" "0" "1008" "0" "c.1008T>G" "r.(?)" "p.(Ser336Arg)" "" "0000857124" "00015717" "30" "192" "0" "192" "0" "c.192A>G" "r.(?)" "p.(Arg64=)" "" "0000882902" "00015717" "30" "192" "-12" "192" "-12" "c.192-12dup" "r.(=)" "p.(=)" "" "0000882905" "00015717" "30" "701" "13" "701" "13" "c.701+13T>G" "r.(=)" "p.(=)" "" "0000921062" "00015717" "90" "649" "0" "649" "0" "c.649C>T" "r.(?)" "p.(Gln217*)" "" "0000922998" "00015717" "50" "1123" "0" "1123" "0" "c.1123C>T" "r.(?)" "p.(Arg375Cys)" "" "0000973447" "00015717" "50" "1046" "0" "1046" "0" "c.1046G>A" "r.(?)" "p.(Ser349Asn)" "" "0000987858" "00015717" "70" "191" "1" "191" "1" "c.191+1G>A" "r.spl" "p.?" "" "0000990530" "00015717" "50" "393" "0" "401" "0" "c.393_401dup" "r.(?)" "p.(Ala133_Ala135dup)" "" "0000990531" "00015717" "50" "701" "0" "701" "0" "c.701G>T" "r.(?)" "p.(Arg234Leu)" "" "0001024059" "00015717" "50" "758" "0" "758" "0" "c.758A>G" "r.(?)" "p.(Tyr253Cys)" "" "0001031447" "00015717" "30" "510" "8" "510" "8" "c.510+8G>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000218372" "0000453016" "0000317282" "0000699806" "0000317304" "0000699828" "0000317306" "0000699830" "0000317308" "0000699832" "0000317313" "0000699837" "0000435124" "0000921062" "0000453280" "0000987858"